#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	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_Start_position_hg18	i_TranscriptID	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_refseq_mrna_id	i_secondary_variant_classification
HPSE2	60495	broad.mit.edu	37	10	100992180	100992180	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:100992180A>G	ENST00000370552.3	-	2	432	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L	HPSE2_ENST00000404542.1_Missense_Mutation_p.F125L|HPSE2_ENST00000370549.1_Missense_Mutation_p.F125L|HPSE2_ENST00000370546.1_Missense_Mutation_p.F125L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	125					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.F125L(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AGGTTCTGGAACTGCAGGAAG	0.567																																					p.F125L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T373C	10						.						11.0	13.0	12.0					10																	100992180		2135	4164	6299	100982170	SO:0001583	missense	60495	exon2			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.373T>C	10.37:g.100992180A>G	ENSP00000359583:p.Phe125Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100982170	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405255	0.62288	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.27	5.27	0.74061	Glycoside hydrolase, superfamily (1);	0.061151	0.64402	D	0.000003	T	0.60586	0.2280	M	0.77486	2.375	0.33896	D	0.63787	B;D;D;P	0.67145	0.0;0.996;0.99;0.956	B;D;D;D	0.73380	0.004;0.98;0.979;0.931	T	0.73817	-0.3863	10	0.51188	T	0.08	-6.2585	14.8544	0.70326	1.0:0.0:0.0:0.0	.	125;125;125;125	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	L	125	ENSP00000359583:F125L;ENSP00000359580:F125L;ENSP00000359577:F125L;ENSP00000384384:F125L	ENSP00000359577:F125L	F	-	1	0	HPSE2	100982170	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	8.111000	0.89564	1.999000	0.58509	0.533000	0.62120	TTC		0.567	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
HPSE2	60495	broad.mit.edu	37	10	100995348	100995348	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:100995348A>G	ENST00000370552.3	-	1	271	c.212T>C	c.(211-213)gTc>gCc	p.V71A	HPSE2_ENST00000404542.1_Missense_Mutation_p.V71A|HPSE2_ENST00000370549.1_Missense_Mutation_p.V71A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V71A	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	71					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.V71A(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GACTGTCCTGACTGGGTTCTT	0.517																																					p.V71A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T212C	10						.						184.0	181.0	182.0					10																	100995348		2203	4300	6503	100985338	SO:0001583	missense	60495	exon1			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.212T>C	10.37:g.100995348A>G	ENSP00000359583:p.Val71Ala	Somatic		Capture	Illumina HiSeq	Phase_I	100985338	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616698	0.46736	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00473	7.18;7.18;7.18;7.18	5.8	5.8	0.92144	.	0.136651	0.49305	D	0.000148	T	0.00468	0.0015	L	0.53249	1.67	0.26911	N	0.966901	B;B;P;B	0.36837	0.058;0.058;0.571;0.01	B;B;B;B	0.33392	0.037;0.022;0.163;0.01	T	0.52866	-0.8518	10	0.51188	T	0.08	-8.1231	12.6403	0.56707	0.8622:0.1378:0.0:0.0	.	71;71;71;71	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	A	71	ENSP00000359583:V71A;ENSP00000359580:V71A;ENSP00000359577:V71A;ENSP00000384384:V71A	ENSP00000359577:V71A	V	-	2	0	HPSE2	100985338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.904000	0.75708	2.226000	0.72624	0.459000	0.35465	GTC		0.517	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
SLC25A28	81894	broad.mit.edu	37	10	101373517	101373517	+	Silent	SNP	G	G	A	rs534198117		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:101373517G>A	ENST00000370495.4	-	2	484	c.456C>T	c.(454-456)taC>taT	p.Y152Y	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	152					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Y152Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTAACTTTTCGTAGCAGGCAA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19883	0.0		0.0	False		,,,				2504	0.001				p.Y152Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	10						.						63.0	68.0	66.0					10																	101373517		1910	4114	6024	101363507	SO:0001819	synonymous_variant	81894	exon2			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.456C>T	10.37:g.101373517G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101363507	NM_031212	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	De_novo_Start_InFrame	SNP	ENST00000370495.4	37	CCDS41559.1																																																																																				0.527	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212	
ABCC2	1244	broad.mit.edu	37	10	101556953	101556953	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:101556953G>A	ENST00000370449.4	+	7	845	c.732G>A	c.(730-732)acG>acA	p.T244T	ABCC2_ENST00000370434.1_Silent_p.T244T	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	244					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.T244T(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGTTTGAAACGCACATGAAGA	0.522																																					p.T244T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	10						.						72.0	71.0	72.0					10																	101556953		2203	4300	6503	101546943	SO:0001819	synonymous_variant	1244	exon7			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.732G>A	10.37:g.101556953G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101546943	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																				0.522	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
ABCC2	1244	broad.mit.edu	37	10	101577088	101577088	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:101577088G>A	ENST00000370449.4	+	17	2231	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	706	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.Q706Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGTCCCACAGCAGTCCTGGA	0.502																																					p.Q706Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2118A	10						.						84.0	70.0	75.0					10																	101577088		2203	4300	6503	101567078	SO:0001819	synonymous_variant	1244	exon17			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2118G>A	10.37:g.101577088G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101567078	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																				0.502	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
DNMBP	23268	broad.mit.edu	37	10	101639996	101639996	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:101639996A>G	ENST00000324109.4	-	16	4211	c.4120T>C	c.(4120-4122)Ttc>Ctc	p.F1374L	DNMBP_ENST00000342239.3_Missense_Mutation_p.F1398L|DNMBP_ENST00000540316.1_Missense_Mutation_p.F310L|DNMBP_ENST00000543621.1_Missense_Mutation_p.F620L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1374	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1374L(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGCGTGGGAACCTGGGGGAG	0.607																																					p.F1374L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4120C	10						.						69.0	63.0	65.0					10																	101639996		2203	4300	6503	101629986	SO:0001583	missense	23268	exon16			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4120T>C	10.37:g.101639996A>G	ENSP00000315659:p.Phe1374Leu	Somatic		Capture	Illumina HiSeq	Phase_I	101629986	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983968	0.35036	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.33654	2.81;2.77;2.46;1.4	5.42	3.03	0.35002	.	0.761571	0.11618	N	0.546064	T	0.31702	0.0805	L	0.57536	1.79	0.34357	D	0.690536	B;B;B	0.27068	0.104;0.167;0.129	B;B;B	0.23716	0.035;0.032;0.048	T	0.31586	-0.9938	10	0.09843	T	0.71	-0.8304	10.9735	0.47452	0.6819:0.3181:0.0:0.0	.	1374;620;1398	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1398;1374;620;620;310	ENSP00000344914:F1398L;ENSP00000315659:F1374L;ENSP00000443657:F620L;ENSP00000443573:F310L	ENSP00000315659:F1374L	F	-	1	0	DNMBP	101629986	0.392000	0.25229	0.190000	0.23270	0.943000	0.58893	1.080000	0.30779	0.337000	0.23665	0.459000	0.35465	TTC		0.607	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
DNMBP	23268	broad.mit.edu	37	10	101716420	101716420	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:101716420G>T	ENST00000324109.4	-	4	902	c.811C>A	c.(811-813)Cga>Aga	p.R271R	DNMBP_ENST00000342239.3_Silent_p.R271R|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	271	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R271R(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCCAGAATTCGGATTTTATCC	0.542																																					p.R271R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C811A	10						.						75.0	72.0	73.0					10																	101716420		2203	4300	6503	101706410	SO:0001819	synonymous_variant	23268	exon4			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.811C>A	10.37:g.101716420G>T		Somatic		Capture	Illumina HiSeq	Phase_I	101706410	NM_015221	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.542	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
SEC31B	25956	broad.mit.edu	37	10	102256018	102256018	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:102256018A>C	ENST00000370345.3	-	18	2404	c.2307T>G	c.(2305-2307)gcT>gcG	p.A769A	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	769					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.A769A(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACTTACCTGAGCACAGTCCC	0.537																																					p.A769A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2307G	10						.						86.0	73.0	77.0					10																	102256018		2203	4300	6503	102246008	SO:0001819	synonymous_variant	25956	exon18			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2307T>G	10.37:g.102256018A>C		Somatic		Capture	Illumina HiSeq	Phase_I	102246008	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	CCDS7495.1																																																																																				0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490	
SEMA4G	57715	broad.mit.edu	37	10	102740949	102740949	+	Silent	SNP	G	G	A	rs190201835		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:102740949G>A	ENST00000370250.4	+	13	2026	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Silent_p.E556E|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Silent_p.E556E	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	551	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E556E(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGACATAGAGAGAGGAAATC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		23505	0.001		0.0	False		,,,				2504	0.0				p.E556E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1668A	10						.						140.0	114.0	123.0					10																	102740949		2203	4300	6503	102730939	SO:0001819	synonymous_variant	57715	exon13			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1653G>A	10.37:g.102740949G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102730939	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37																																																																																					0.483	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
LBX1	10660	broad.mit.edu	37	10	102987347	102987347	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:102987347G>A	ENST00000370193.2	-	2	1504	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	176					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R176W(2)		large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TTAGCGCGCCGATTCTGGAAC	0.627																																					p.R176W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C526T	10						.						74.0	75.0	75.0					10																	102987347		2203	4300	6503	102977337	SO:0001583	missense	10660	exon2			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.526C>T	10.37:g.102987347G>A	ENSP00000359212:p.Arg176Trp	Somatic		Capture	Illumina HiSeq	Phase_I	102977337	NM_006562	B9EGA2|Q05BB2	Missense_Mutation	SNP	ENST00000370193.2	37	CCDS31270.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071438	0.93950	.	.	ENSG00000138136	ENST00000370193	D	0.97831	-4.56	5.61	5.61	0.85477	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98350	1.0543	10	0.87932	D	0	.	19.2382	0.93871	0.0:0.0:1.0:0.0	.	176	P52954	LBX1_HUMAN	W	176	ENSP00000359212:R176W	ENSP00000359212:R176W	R	-	1	2	LBX1	102977337	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.777000	0.85628	2.646000	0.89796	0.561000	0.74099	CGG		0.627	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562	
BTRC	8945	broad.mit.edu	37	10	103291074	103291074	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:103291074T>G	ENST00000370187.3	+	7	942	c.824T>G	c.(823-825)aTt>aGt	p.I275S	BTRC_ENST00000408038.2_Missense_Mutation_p.I239S|BTRC_ENST00000393441.4_Missense_Mutation_p.I234S	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	275					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I275S(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TATCCTAAAATTATACAAGAC	0.368																																					p.I239S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T716G	10						.						76.0	83.0	81.0					10																	103291074		2203	4300	6503	103281064	SO:0001583	missense	8945	exon6			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.824T>G	10.37:g.103291074T>G	ENSP00000359206:p.Ile275Ser	Somatic		Capture	Illumina HiSeq	Phase_I	103281064	NM_003939	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610727	0.66558	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.23552	1.9;1.9;1.9	5.57	5.57	0.84162	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000001	T	0.57695	0.2071	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.992;0.989;1.0	D;D;D	0.97110	0.971;0.974;1.0	T	0.63400	-0.6646	10	0.42905	T	0.14	-11.3167	15.717	0.77674	0.0:0.0:0.0:1.0	.	249;239;275	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	S	275;234;239	ENSP00000359206:I275S;ENSP00000377088:I234S;ENSP00000385339:I239S	ENSP00000359206:I275S	I	+	2	0	BTRC	103281064	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	8.040000	0.89188	2.110000	0.64415	0.528000	0.53228	ATT		0.368	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
SFXN2	118980	broad.mit.edu	37	10	104492647	104492647	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:104492647G>T	ENST00000369893.5	+	9	920	c.753G>T	c.(751-753)gaG>gaT	p.E251D		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	251					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.E251D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AAAGGCTTGAGAAATTGCACT	0.557																																					p.E251D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G753T	10						.						174.0	145.0	155.0					10																	104492647		2203	4300	6503	104482637	SO:0001583	missense	118980	exon9			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.753G>T	10.37:g.104492647G>T	ENSP00000358909:p.Glu251Asp	Somatic		Capture	Illumina HiSeq	Phase_I	104482637	NM_178858	Q5JSM6	Missense_Mutation	SNP	ENST00000369893.5	37	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516547	0.64634	.	.	ENSG00000156398	ENST00000369893	T	0.32988	1.43	5.7	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.55990	1.75	0.58432	D	0.999996	P	0.38455	0.632	P	0.46339	0.513	T	0.10428	-1.0630	10	0.42905	T	0.14	-14.0265	9.1882	0.37182	0.2216:0.0:0.7784:0.0	.	251	Q96NB2	SFXN2_HUMAN	D	251	ENSP00000358909:E251D	ENSP00000358909:E251D	E	+	3	2	SFXN2	104482637	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	1.879000	0.39618	1.435000	0.47434	0.561000	0.74099	GAG		0.557	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359	
INA	9118	broad.mit.edu	37	10	105048365	105048365	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:105048365C>A	ENST00000369849.4	+	3	1488	c.1439C>A	c.(1438-1440)tCt>tAt	p.S480Y		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	480	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.S480Y(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACAGTAATATCTACTAAGAAA	0.363																																					p.S480Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1439A	10						.						42.0	45.0	44.0					10																	105048365		2202	4300	6502	105038355	SO:0001583	missense	9118	exon3			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1439C>A	10.37:g.105048365C>A	ENSP00000358865:p.Ser480Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	105038355	NM_032727	B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093929	0.56075	.	.	ENSG00000148798	ENST00000369849	D	0.85339	-1.97	5.04	4.11	0.48088	.	0.810696	0.11119	N	0.597611	T	0.76564	0.4005	N	0.24115	0.695	0.34230	D	0.676385	P	0.47350	0.894	B	0.38562	0.276	T	0.80111	-0.1519	10	0.72032	D	0.01	.	12.6466	0.56738	0.0:0.8334:0.1666:0.0	.	480	Q16352	AINX_HUMAN	Y	480	ENSP00000358865:S480Y	ENSP00000358865:S480Y	S	+	2	0	INA	105038355	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	3.475000	0.53136	1.305000	0.44909	0.455000	0.32223	TCT		0.363	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727	
SH3PXD2A	9644	broad.mit.edu	37	10	105361771	105361771	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:105361771G>T	ENST00000369774.4	-	15	3480	c.3204C>A	c.(3202-3204)ttC>ttA	p.F1068L	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.F1040L|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.F903L|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.F935L			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1068					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.F1040L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TATTGTGGATGAACTGAGACT	0.597																																					p.F1040L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3120A	10						.						127.0	133.0	131.0					10																	105361771		2203	4300	6503	105351761	SO:0001583	missense	9644	exon14			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3204C>A	10.37:g.105361771G>T	ENSP00000358789:p.Phe1068Leu	Somatic		Capture	Illumina HiSeq	Phase_I	105351761	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.215880|2.215880	0.39201|0.39201	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63|.	5.27|5.27	2.27|2.27	0.28462|0.28462	Src homology-3 domain (1);|.	0.054390|.	0.85682|.	D|.	0.000000|.	T|T	0.48978|0.48978	0.1530|0.1530	L|L	0.33485|0.33485	1.01|1.01	0.42077|0.42077	D|D	0.991239|0.991239	D;D;D;D|.	0.61697|.	0.982;0.982;0.986;0.99|.	D;D;D;D|.	0.72982|.	0.952;0.952;0.968;0.979|.	T|T	0.26503|0.26503	-1.0101|-1.0101	10|5	0.15952|.	T|.	0.53|.	-25.6153|-25.6153	8.9484|8.9484	0.35773|0.35773	0.2534:0.0:0.7466:0.0|0.2534:0.0:0.7466:0.0	.|.	1068;917;913;1040|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	L|N	1068;1040;875;900;935;903|995	ENSP00000358789:F1068L;ENSP00000348215:F1040L;ENSP00000443663:F935L;ENSP00000441514:F903L|.	ENSP00000318135:F875L|.	F|H	-|-	3|1	2|0	SH3PXD2A|SH3PXD2A	105351761|105351761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.465000|1.465000	0.35299|0.35299	0.173000|0.173000	0.19788|0.19788	0.561000|0.561000	0.74099|0.74099	TTC|CAT		0.597	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631	
OBFC1	79991	broad.mit.edu	37	10	105648830	105648830	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:105648830G>A	ENST00000224950.3	-	9	1116	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Splice_Site_p.H317Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	317	Winged helix-turn-helix (wHTH) 2.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.H317Y(2)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.498																																					p.H317Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C949T	10						.						161.0	152.0	155.0					10																	105648830		2203	4300	6503	105638820	SO:0001630	splice_region_variant	79991	exon9			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.949+1C>T	10.37:g.105648830G>A		Somatic		Capture	Illumina HiSeq	Phase_I	105638820	NM_024928	D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287058	0.23478	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.45276	0.9;0.9	5.25	4.34	0.51931	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.477946	0.24901	N	0.034691	T	0.37019	0.0988	L	0.55834	1.745	0.46927	D	0.999255	B	0.19817	0.039	B	0.15484	0.013	T	0.13072	-1.0523	9	.	.	.	-1.636	11.9209	0.52791	0.0861:0.0:0.9139:0.0	.	317	Q9H668	STN1_HUMAN	Y	317	ENSP00000224950:H317Y;ENSP00000358779:H317Y	.	H	-	1	0	OBFC1	105638820	1.000000	0.71417	0.951000	0.38953	0.880000	0.50808	4.332000	0.59279	1.186000	0.42985	0.561000	0.74099	CAC		0.498	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928	Missense_Mutation
OBFC1	79991	broad.mit.edu	37	10	105670312	105670312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:105670312C>A	ENST00000224950.3	-	3	369	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Nonsense_Mutation_p.E68*	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	68					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.E68*(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCATCTCTTTCTCTCACTCCA	0.373																																					p.E68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G202T	10						.						133.0	117.0	123.0					10																	105670312		2202	4300	6502	105660302	SO:0001587	stop_gained	79991	exon3			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.202G>T	10.37:g.105670312C>A	ENSP00000224950:p.Glu68*	Somatic		Capture	Illumina HiSeq	Phase_I	105660302	NM_024928	D3DR99|Q5TCZ0	Nonsense_Mutation	SNP	ENST00000224950.3	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.903927	0.92035	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-21.9757	18.4681	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000224950:E68X	E	-	1	0	OBFC1	105660302	1.000000	0.71417	0.942000	0.38095	0.353000	0.29299	5.851000	0.69481	2.720000	0.93068	0.557000	0.71058	GAA		0.373	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928	
CFAP58	159686	broad.mit.edu	37	10	106153205	106153205	+	Missense_Mutation	SNP	G	G	A	rs61732088	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:106153205G>A	ENST00000369704.3	+	11	1780	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		549						extracellular space (GO:0005615)		p.R549Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAACAGCAGCGAATAGAAAAG	0.453																																					p.R549Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	10						.	G	GLN/ARG	0,4406		0,0,2203	61.0	61.0	61.0		1646	4.5	0.9	10	dbSNP_129	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC147	NM_001008723.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	549/873	106153205	1,13005	2203	4300	6503	106143195	SO:0001583	missense	159686	exon11																														ENST00000369704.3:c.1646G>A	10.37:g.106153205G>A	ENSP00000358718:p.Arg549Gln	Somatic		Capture	Illumina HiSeq	Phase_I	106143195	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324912	0.60634	0.0	1.16E-4	ENSG00000120051	ENST00000369704	T	0.41065	1.01	5.45	4.54	0.55810	.	0.061173	0.64402	D	0.000002	T	0.32041	0.0816	L	0.48362	1.52	0.80722	D	1	B	0.22346	0.068	B	0.19148	0.024	T	0.08371	-1.0725	10	0.13470	T	0.59	-3.3355	9.6523	0.39906	0.1717:0.0:0.8283:0.0	rs61732088	549	Q5T655	CC147_HUMAN	Q	549	ENSP00000358718:R549Q	ENSP00000358718:R549Q	R	+	2	0	CCDC147	106143195	1.000000	0.71417	0.911000	0.35937	0.999000	0.98932	4.619000	0.61218	1.299000	0.44798	0.655000	0.94253	CGA		0.453	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
SORCS3	22986	broad.mit.edu	37	10	107016627	107016627	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:107016627C>T	ENST00000369701.3	+	25	3615	c.3388C>T	c.(3388-3390)Cta>Tta	p.L1130L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1130					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.L1130L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGCTTATGCTATTATCAGT	0.428																																					p.L1130L	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3388T	10						.						175.0	149.0	158.0					10																	107016627		2203	4300	6503	107006617	SO:0001819	synonymous_variant	22986	exon25			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3388C>T	10.37:g.107016627C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107006617	NM_014978	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS1	114815	broad.mit.edu	37	10	108459100	108459100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:108459100C>A	ENST00000263054.6	-	9	1292	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E429*|SORCS1_ENST00000369698.1_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	429					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E429*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGTTCCATTCTTGGACCGCT	0.483																																					p.E429X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1285T	10						.						253.0	194.0	214.0					10																	108459100		2203	4300	6503	108449090	SO:0001587	stop_gained	114815	exon9			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1285G>T	10.37:g.108459100C>A	ENSP00000263054:p.Glu429*	Somatic		Capture	Illumina HiSeq	Phase_I	108449090	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	41	9.159376	0.99085	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	.	.	.	6.06	6.06	0.98353	.	0.054185	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.286	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	429	.	.	E	-	1	0	SORCS1	108449090	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.433000	0.80362	2.880000	0.98712	0.650000	0.86243	GAA		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
XPNPEP1	7511	broad.mit.edu	37	10	111647821	111647821	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:111647821C>T	ENST00000502935.1	-	7	757	c.638G>A	c.(637-639)gGc>gAc	p.G213D	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G170D|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G99D|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G213D					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.G170D(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTAATCCAGGCCCAGTGTGAG	0.572																																					p.G213D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638A	10						.						75.0	64.0	68.0					10																	111647821		2203	4300	6503	111637811	SO:0001583	missense	7511	exon7				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.638G>A	10.37:g.111647821C>T	ENSP00000421566:p.Gly213Asp	Somatic		Capture	Illumina HiSeq	Phase_I	111637811	NM_001167604		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061516	0.19987	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.74	4.83	0.62350	.	0.167053	0.53938	D	0.000043	T	0.18882	0.0453	N	0.03253	-0.375	0.35595	D	0.807404	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.26608	-1.0098	9	0.02654	T	1	-19.2118	8.5037	0.33175	0.0:0.8175:0.0:0.1825	.	213;213;170	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	D	213;99;213;170;170;170	.	ENSP00000324011:G213D	G	-	2	0	XPNPEP1	111637811	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.880000	0.39628	2.702000	0.92279	0.609000	0.83330	GGC		0.572	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		
ACSL5	51703	broad.mit.edu	37	10	114173060	114173060	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:114173060G>T	ENST00000393081.1	+	12	1385	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	ACSL5_ENST00000356116.1_Missense_Mutation_p.D416Y|ACSL5_ENST00000433418.1_Missense_Mutation_p.D360Y|ACSL5_ENST00000354273.4_Missense_Mutation_p.D360Y|ACSL5_ENST00000369410.3_Missense_Mutation_p.D142Y|ACSL5_ENST00000354655.4_Missense_Mutation_p.D360Y|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	360					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.D416Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CAGGATCTACGATAAGGTACT	0.498																																					p.D416Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1246T	10						.						130.0	122.0	125.0					10																	114173060		2203	4300	6503	114163050	SO:0001583	missense	51703	exon12			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1078G>T	10.37:g.114173060G>T	ENSP00000376796:p.Asp360Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	114163050	NM_016234	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430832	0.83776	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.7	4.8	0.61643	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	H	0.96662	3.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.97110	0.997;1.0;0.951;0.967	T	0.69822	-0.5041	10	0.87932	D	0	-16.7788	14.442	0.67323	0.0716:0.0:0.9284:0.0	.	142;360;416;360	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	Y	360;360;416;360;360;142	ENSP00000346680:D360Y;ENSP00000376796:D360Y;ENSP00000348429:D416Y;ENSP00000403647:D360Y;ENSP00000346223:D360Y;ENSP00000358418:D142Y	ENSP00000346223:D360Y	D	+	1	0	ACSL5	114163050	1.000000	0.71417	0.994000	0.49952	0.695000	0.40330	6.393000	0.73217	1.419000	0.47118	0.655000	0.94253	GAT		0.498	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234	
TCF7L2	6934	broad.mit.edu	37	10	114911553	114911553	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:114911553C>A	ENST00000355995.4	+	10	1578	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	TCF7L2_ENST00000542695.1_Missense_Mutation_p.F73L|TCF7L2_ENST00000355717.4_Missense_Mutation_p.F381L|TCF7L2_ENST00000538897.1_Missense_Mutation_p.F357L|TCF7L2_ENST00000369386.1_De_novo_Start_InFrame|TCF7L2_ENST00000543371.1_Missense_Mutation_p.F357L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.F357L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.F357L|TCF7L2_ENST00000369397.4_Missense_Mutation_p.F334L|TCF7L2_ENST00000369389.1_Missense_Mutation_p.F68L|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Missense_Mutation_p.F357L|TCF7L2_ENST00000352065.5_Missense_Mutation_p.F334L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	357	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F334L(1)|p.F357L(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTAATGCATTCATGTTGTATA	0.458			T	VTI1A	colorectal																																p.F330L			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C990A	10						.						72.0	72.0	72.0					10																	114911553		2203	4300	6503	114901543	SO:0001583	missense	6934	exon9			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1071C>A	10.37:g.114911553C>A	ENSP00000348274:p.Phe357Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114901543	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	27.7	4.855306	0.91355	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945	D;D;D;D;D;D;D;D;D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61	5.24	5.24	0.73138	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.048303	0.85682	D	0.000000	D	0.99600	0.9855	H	0.97962	4.115	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;0.999;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999;0.989;0.998;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.994;0.997;0.996;0.997;0.997;0.996;0.997;0.997;0.999;0.999;0.997;0.999;0.996;0.986;0.994;0.995;0.998;0.999	D	0.98166	1.0449	10	0.87932	D	0	-15.792	10.0663	0.42306	0.0:0.8755:0.0:0.1245	.	214;174;256;357;228;272;330;334;334;300;357;334;334;339;381;334;357;330;334	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	357;357;357;357;381;357;357;334;334;73;68;74	ENSP00000348274:F357L;ENSP00000440547:F357L;ENSP00000444972:F357L;ENSP00000446238:F357L;ENSP00000347949:F381L;ENSP00000446172:F357L;ENSP00000443626:F357L;ENSP00000358404:F334L;ENSP00000344823:F334L;ENSP00000443883:F73L;ENSP00000358396:F68L;ENSP00000277945:F74L	ENSP00000277945:F74L	F	+	3	2	TCF7L2	114901543	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.019000	0.49635	2.448000	0.82819	0.655000	0.94253	TTC		0.458	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
TCF7L2	6934	broad.mit.edu	37	10	114912120	114912120	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:114912120C>T	ENST00000355995.4	+	11	1697	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	TCF7L2_ENST00000542695.1_Missense_Mutation_p.A113V|TCF7L2_ENST00000355717.4_Missense_Mutation_p.A421V|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A397V|TCF7L2_ENST00000369386.1_Missense_Mutation_p.A40V|TCF7L2_ENST00000543371.1_Missense_Mutation_p.A397V|TCF7L2_ENST00000534894.1_Missense_Mutation_p.A397V|TCF7L2_ENST00000536810.1_Missense_Mutation_p.A397V|TCF7L2_ENST00000369397.4_Missense_Mutation_p.A374V|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A108V|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Missense_Mutation_p.A397V|TCF7L2_ENST00000352065.5_Missense_Mutation_p.A374V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	397					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A374V(1)|p.A397V(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAAGAGCAAGCGAAATACTAC	0.498			T	VTI1A	colorectal																																p.A370V			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1109T	10						.						186.0	192.0	190.0					10																	114912120		2203	4300	6503	114902110	SO:0001583	missense	6934	exon10			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1190C>T	10.37:g.114912120C>T	ENSP00000348274:p.Ala397Val	Somatic		Capture	Illumina HiSeq	Phase_I	114902110	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	36	5.763076	0.96906	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82	5.66	5.66	0.87406	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.149852	0.64402	D	0.000011	D	0.98934	0.9638	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.998;0.998;0.998;1.0;1.0;0.999;1.0;0.997;0.998;1.0;0.999;1.0;1.0;0.998;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.971;0.93;0.968;0.967;0.967;0.987;0.989;0.964;0.987;0.96;0.978;0.98;0.983;0.999;0.996;0.978;0.92;0.964;0.999	D	0.99827	1.1051	10	0.66056	D	0.02	-19.0335	19.7439	0.96243	0.0:1.0:0.0:0.0	.	254;214;296;397;268;312;370;374;374;340;397;374;374;379;421;374;397;370;374	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	397;397;397;397;421;397;397;374;374;113;108;114;40	ENSP00000348274:A397V;ENSP00000440547:A397V;ENSP00000444972:A397V;ENSP00000446238:A397V;ENSP00000347949:A421V;ENSP00000446172:A397V;ENSP00000443626:A397V;ENSP00000358404:A374V;ENSP00000344823:A374V;ENSP00000443883:A113V;ENSP00000358396:A108V;ENSP00000277945:A114V;ENSP00000358393:A40V	ENSP00000277945:A114V	A	+	2	0	TCF7L2	114902110	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.814000	0.86154	2.669000	0.90835	0.655000	0.94253	GCG		0.498	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
TCF7L2	6934	broad.mit.edu	37	10	114925333	114925333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:114925333C>T	ENST00000355995.4	+	15	1969	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	TCF7L2_ENST00000542695.1_Missense_Mutation_p.R204C|TCF7L2_ENST00000355717.4_Silent_p.F470F|TCF7L2_ENST00000538897.1_Silent_p.F463F|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.R471C|TCF7L2_ENST00000536810.1_Missense_Mutation_p.R471C|TCF7L2_ENST00000369397.4_Missense_Mutation_p.R465C|TCF7L2_ENST00000369389.1_Silent_p.F157F|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Missense_Mutation_p.R488C|TCF7L2_ENST00000352065.5_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	488	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R465C(3)|p.R471C(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAGTGCGTTCGCTACATACA	0.532			T	VTI1A	colorectal																																p.R448C			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	TCF7L2,large_intestine,colon,Substitution - Missense,0 	.	5	Substitution - Missense(5)	large_intestine(5)	c.C1342T	10						.						100.0	107.0	105.0					10																	114925333		2203	4300	6503	114915323	SO:0001583	missense	6934	exon13			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1462C>T	10.37:g.114925333C>T	ENSP00000348274:p.Arg488Cys	Somatic		Capture	Illumina HiSeq	Phase_I	114915323	NM_001146285	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	C	31	5.096063	0.94197	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695;ENST00000277945	D;D;D;D;D;D;D	0.99329	-5.21;-5.21;-5.2;-5.19;-5.21;-5.24;-5.75	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	D	0.99375	0.9780	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.997;0.999;0.999;0.999;0.983	P;D;P;P;P;P;B	0.85130	0.8;0.997;0.634;0.791;0.77;0.857;0.405	D	0.99457	1.0942	10	0.87932	D	0	-33.6256	19.3381	0.94329	0.0:1.0:0.0:0.0	.	488;359;403;448;448;471;465	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.	C	488;488;471;471;465;204;188	ENSP00000348274:R488C;ENSP00000440547:R488C;ENSP00000444972:R471C;ENSP00000446238:R471C;ENSP00000358404:R465C;ENSP00000443883:R204C;ENSP00000277945:R188C	ENSP00000277945:R188C	R	+	1	0	TCF7L2	114915323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.558000	0.86282	0.655000	0.94253	CGC		0.532	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
DCLRE1A	9937	broad.mit.edu	37	10	115594943	115594943	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:115594943A>C	ENST00000361384.2	-	9	4008	c.3091T>G	c.(3091-3093)Ttt>Gtt	p.F1031V	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.F1031V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	1031					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.F1031V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CACTCTCTAAAATATTTCTCC	0.408								Other identified genes with known or suspected DNA repair function																													p.F1031V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3091G	10						.						161.0	157.0	158.0					10																	115594943		2203	4300	6503	115584933	SO:0001583	missense	9937	exon9				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.3091T>G	10.37:g.115594943A>C	ENSP00000355185:p.Phe1031Val	Somatic		Capture	Illumina HiSeq	Phase_I	115584933	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857738	0.91433	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.73789	-0.78;-0.78	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.70108	2.13	0.54753	D	0.999987	P	0.46395	0.877	B	0.43386	0.418	T	0.79999	-0.1566	10	0.72032	D	0.01	-26.5093	14.1468	0.65355	1.0:0.0:0.0:0.0	.	1031	Q6PJP8	DCR1A_HUMAN	V	1031	ENSP00000355185:F1031V;ENSP00000358311:F1031V	ENSP00000355185:F1031V	F	-	1	0	DCLRE1A	115584933	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.840000	0.92125	2.139000	0.66308	0.533000	0.62120	TTT		0.408	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
CCDC186	55088	broad.mit.edu	37	10	115922682	115922682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:115922682T>C	ENST00000369287.3	-	2	612	c.346A>G	c.(346-348)Aca>Gca	p.T116A	C10orf118_ENST00000369285.3_Missense_Mutation_p.T116A|C10orf118_ENST00000369286.1_Missense_Mutation_p.T116A	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		116								p.T116A(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATATTTGTGTTACTTTCTGT	0.328																																					p.T116A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A346G	10						.						106.0	114.0	111.0					10																	115922682		2203	4299	6502	115912672	SO:0001583	missense	55088	exon2																														ENST00000369287.3:c.346A>G	10.37:g.115922682T>C	ENSP00000358293:p.Thr116Ala	Somatic		Capture	Illumina HiSeq	Phase_I	115912672	NM_018017	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733576	0.48939	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.35048	1.81;1.33;1.33	5.44	5.44	0.79542	.	0.195434	0.45126	D	0.000389	T	0.35740	0.0942	L	0.50333	1.59	0.80722	D	1	B	0.28291	0.206	B	0.31101	0.124	T	0.13548	-1.0505	10	0.40728	T	0.16	.	14.1272	0.65228	0.0:0.0:0.0:1.0	.	116	Q7Z3E2	CJ118_HUMAN	A	116;222;116;116	ENSP00000358293:T116A;ENSP00000358292:T116A;ENSP00000358291:T116A	ENSP00000358291:T116A	T	-	1	0	C10orf118	115912672	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.146000	0.64845	2.083000	0.62718	0.529000	0.55759	ACA		0.328	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		
TDRD1	56165	broad.mit.edu	37	10	115977374	115977374	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:115977374C>A	ENST00000369280.1	+	17	2743	c.2283C>A	c.(2281-2283)ttC>ttA	p.F761L	TDRD1_ENST00000251864.2_Missense_Mutation_p.F761L|TDRD1_ENST00000369281.2_Missense_Mutation_p.F704L|TDRD1_ENST00000369282.1_Missense_Mutation_p.F761L|TDRD1_ENST00000422662.1_Missense_Mutation_p.F365L			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	761					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.F761L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTAATGGTTTCAAGGCAGAGA	0.328																																					p.F761L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2283A	10						.						83.0	80.0	81.0					10																	115977374		2203	4300	6503	115967364	SO:0001583	missense	56165	exon17			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2283C>A	10.37:g.115977374C>A	ENSP00000358286:p.Phe761Leu	Somatic		Capture	Illumina HiSeq	Phase_I	115967364	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	C	13.59	2.281439	0.40394	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	5.8	-0.991	0.10235	Maternal tudor protein (1);Tudor domain (1);	0.371644	0.31589	N	0.007398	T	0.07007	0.0178	L	0.35793	1.09	0.39361	D	0.965929	B;B;B;B;B	0.34015	0.159;0.085;0.435;0.137;0.257	B;B;B;B;B	0.40602	0.334;0.075;0.229;0.056;0.147	T	0.40079	-0.9582	10	0.23302	T	0.38	-13.1517	6.794	0.23715	0.1215:0.4237:0.0:0.4548	.	365;761;704;761;704	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	L	761;761;704;365;761	ENSP00000358288:F761L;ENSP00000251864:F761L;ENSP00000358287:F704L;ENSP00000402794:F365L;ENSP00000358286:F761L	ENSP00000251864:F761L	F	+	3	2	TDRD1	115967364	0.937000	0.31787	0.967000	0.41034	0.880000	0.50808	-0.188000	0.09642	-0.109000	0.12044	-0.471000	0.05019	TTC		0.328	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
ATRNL1	26033	broad.mit.edu	37	10	117308997	117308997	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:117308997C>T	ENST00000355044.3	+	26	3872	c.3746C>T	c.(3745-3747)gCt>gTt	p.A1249V	ATRNL1_ENST00000423111.2_Missense_Mutation_p.A300V|ATRNL1_ENST00000303745.7_Missense_Mutation_p.A42V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1249					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A1249V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGGTGGCTGCTGTGGTATGG	0.313																																					p.A1249V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3746T	10						.						126.0	121.0	123.0					10																	117308997		2203	4300	6503	117298987	SO:0001583	missense	26033	exon26			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3746C>T	10.37:g.117308997C>T	ENSP00000347152:p.Ala1249Val	Somatic		Capture	Illumina HiSeq	Phase_I	117298987	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964318	0.74131	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.53857	0.6;0.6;0.6	5.54	5.54	0.83059	.	0.109297	0.64402	D	0.000010	T	0.59998	0.2235	L	0.28192	0.835	0.36899	D	0.890281	P;D	0.63880	0.689;0.993	B;D	0.72625	0.223;0.978	T	0.59815	-0.7383	10	0.25106	T	0.35	-14.0925	17.2741	0.87110	0.0:1.0:0.0:0.0	.	300;1249	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1249;300;42	ENSP00000347152:A1249V;ENSP00000409624:A300V;ENSP00000307660:A42V	ENSP00000307660:A42V	A	+	2	0	ATRNL1	117298987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.179000	0.65043	2.617000	0.88574	0.591000	0.81541	GCT		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
PNLIP	5406	broad.mit.edu	37	10	118327287	118327287	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:118327287C>A	ENST00000369221.2	+	13	1403	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	459	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.L459M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGAGGAAGTTCTGCTCACCCT	0.433																																					p.L459M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375A	10						.						187.0	165.0	172.0					10																	118327287		2203	4300	6503	118317277	SO:0001583	missense	5406	exon13			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1375C>A	10.37:g.118327287C>A	ENSP00000358223:p.Leu459Met	Somatic		Capture	Illumina HiSeq	Phase_I	118317277	NM_000936	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981501	0.34942	.	.	ENSG00000175535	ENST00000369221	T	0.52057	0.68	5.52	3.64	0.41730	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.117687	0.37437	N	0.002091	T	0.70378	0.3217	M	0.89785	3.06	0.37727	D	0.925119	D	0.76494	0.999	D	0.78314	0.991	T	0.75551	-0.3278	10	0.62326	D	0.03	.	9.1755	0.37109	0.0:0.7749:0.146:0.0791	.	459	P16233	LIPP_HUMAN	M	459	ENSP00000358223:L459M	ENSP00000358223:L459M	L	+	1	2	PNLIP	118317277	1.000000	0.71417	0.865000	0.33974	0.003000	0.03518	2.210000	0.42816	0.800000	0.34041	0.655000	0.94253	CTG		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
PNLIPRP1	5407	broad.mit.edu	37	10	118354250	118354250	+	Silent	SNP	C	C	T	rs202053226		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:118354250C>T	ENST00000528052.1	+	5	410	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PNLIPRP1_ENST00000534537.1_Silent_p.F113F|PNLIPRP1_ENST00000358834.4_Silent_p.F113F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	113					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.F113F(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGAAACTGTTCGAGGTGGAGG	0.577																																					p.F113F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339T	10						.						109.0	96.0	100.0					10																	118354250		2203	4300	6503	118344240	SO:0001819	synonymous_variant	5407	exon5			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.339C>T	10.37:g.118354250C>T		Somatic		Capture	Illumina HiSeq	Phase_I	118344240	NM_006229	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	CCDS7595.1																																																																																				0.577	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229	
HSPA12A	259217	broad.mit.edu	37	10	118458191	118458191	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:118458191T>G	ENST00000369209.3	-	5	605	c.501A>C	c.(499-501)gaA>gaC	p.E167D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	167						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E788D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AAGCAAAGATTTCAAGGGCTT	0.522																																					p.E167D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A501C	10						.						144.0	138.0	140.0					10																	118458191		1959	4154	6113	118448181	SO:0001583	missense	259217	exon5			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.501A>C	10.37:g.118458191T>G	ENSP00000358211:p.Glu167Asp	Somatic		Capture	Illumina HiSeq	Phase_I	118448181	NM_025015		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	T	8.386	0.838651	0.16891	.	.	ENSG00000165868	ENST00000369209	T	0.04502	3.61	5.61	-0.845	0.10737	.	0.149816	0.64402	N	0.000018	T	0.01800	0.0057	N	0.13299	0.325	0.39565	D	0.969193	B	0.02656	0.0	B	0.10450	0.005	T	0.48536	-0.9027	10	0.02654	T	1	.	1.7392	0.02948	0.2412:0.3735:0.1354:0.2499	.	167	O43301	HS12A_HUMAN	D	167	ENSP00000358211:E167D	ENSP00000358211:E167D	E	-	3	2	HSPA12A	118448181	0.623000	0.27094	0.967000	0.41034	0.996000	0.88848	-0.227000	0.09126	-0.396000	0.07703	0.533000	0.62120	GAA		0.522	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
EMX2	2018	broad.mit.edu	37	10	119307647	119307647	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:119307647G>A	ENST00000553456.3	+	3	1487	c.663G>A	c.(661-663)tcG>tcA	p.S221S	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Missense_Mutation_p.A160T	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	221					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S221S(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GCTCAGATTCGCAACAAAAGA	0.483																																					p.A160T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G478A	10						.						63.0	59.0	61.0					10																	119307647		2203	4300	6503	119297637	SO:0001819	synonymous_variant	2018	exon2			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.663G>A	10.37:g.119307647G>A		Somatic		Capture	Illumina HiSeq	Phase_I	119297637	NM_001165924	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517658	0.64634	.	.	ENSG00000258614	ENST00000553456	D	0.95885	-3.84	5.24	-4.21	0.03812	.	.	.	.	.	D	0.85864	0.5796	.	.	.	0.20926	N	0.999829	B	0.02656	0.0	B	0.01281	0.0	T	0.73990	-0.3808	7	.	.	.	-9.2654	0.3092	0.00285	0.2454:0.2622:0.2208:0.2716	.	160	G3V305	.	T	160	ENSP00000450962:A160T	.	A	+	1	0	AC005871.1	119297637	0.012000	0.17670	0.990000	0.47175	0.998000	0.95712	-0.879000	0.04188	-0.364000	0.08088	0.643000	0.83706	GCA		0.483	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098	
UPF2	26019	broad.mit.edu	37	10	12071136	12071136	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:12071136C>A	ENST00000356352.2	-	2	1226	c.753G>T	c.(751-753)agG>agT	p.R251S	UPF2_ENST00000357604.5_Missense_Mutation_p.R251S|UPF2_ENST00000397053.2_Missense_Mutation_p.R251S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	251	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R251S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTCCTCTTTCCTTGCTTCAA	0.413																																					p.R251S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G753T	10						.						82.0	85.0	84.0					10																	12071136		2203	4300	6503	12111142	SO:0001583	missense	26019	exon3			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.753G>T	10.37:g.12071136C>A	ENSP00000348708:p.Arg251Ser	Somatic		Capture	Illumina HiSeq	Phase_I	12111142	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136007	0.56936	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.20881	2.04;2.04;2.04	6.17	4.13	0.48395	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.58428	1.81	0.58432	D	0.999999	P;P	0.47545	0.859;0.897	P;P	0.47430	0.547;0.459	T	0.05209	-1.0899	10	0.13470	T	0.59	.	7.783	0.29077	0.0:0.6882:0.1362:0.1756	.	221;251	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	S	251;251;221;251;221	ENSP00000348708:R251S;ENSP00000350221:R251S;ENSP00000380244:R251S	ENSP00000313617:R221S	R	-	3	2	UPF2	12111142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.620000	0.24403	1.630000	0.50440	0.655000	0.94253	AGG		0.413	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
UPF2	26019	broad.mit.edu	37	10	12071479	12071479	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:12071479C>T	ENST00000356352.2	-	2	883	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	UPF2_ENST00000357604.5_Missense_Mutation_p.R137Q|UPF2_ENST00000397053.2_Missense_Mutation_p.R137Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	137					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R137Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAAATGATGTCGTTCCCAAGC	0.368																																					p.R137Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	10						.						86.0	98.0	94.0					10																	12071479		2179	4235	6414	12111485	SO:0001583	missense	26019	exon3			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.410G>A	10.37:g.12071479C>T	ENSP00000348708:p.Arg137Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12111485	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263818	0.80358	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.41758	0.99;0.99;0.99	5.59	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.47190	1.495	0.58432	D	0.999999	B;D	0.89917	0.011;1.0	B;D	0.79108	0.005;0.992	T	0.59762	-0.7393	10	0.56958	D	0.05	.	14.9949	0.71425	0.0:0.9311:0.0:0.0689	.	107;137	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	Q	137;137;107;137;107	ENSP00000348708:R137Q;ENSP00000350221:R137Q;ENSP00000380244:R137Q	ENSP00000313617:R107Q	R	-	2	0	UPF2	12111485	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	7.729000	0.84864	1.502000	0.48669	0.563000	0.77884	CGA		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
FAM204A	63877	broad.mit.edu	37	10	120095149	120095149	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:120095149A>C	ENST00000369183.4	-	4	498	c.239T>G	c.(238-240)tTt>tGt	p.F80C	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.F80C	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	80								p.F80C(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CAATTCTTGAAATTTCTATGT	0.279																																					p.F80C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T239G	10						.						52.0	50.0	51.0					10																	120095149		2201	4299	6500	120085139	SO:0001583	missense	63877	exon3			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.239T>G	10.37:g.120095149A>C	ENSP00000358183:p.Phe80Cys	Somatic		Capture	Illumina HiSeq	Phase_I	120085139	NM_001134672	D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540104	0.65085	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.79475	2.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81858	-0.0739	9	0.87932	D	0	-14.2751	14.3454	0.66658	1.0:0.0:0.0:0.0	.	80	Q9H8W3	F204A_HUMAN	C	80	.	ENSP00000358168:F80C	F	-	2	0	FAM204A	120085139	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.082000	0.64450	2.371000	0.80710	0.533000	0.62120	TTT		0.279	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063	
INPP5F	22876	broad.mit.edu	37	10	121567499	121567499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:121567499G>A	ENST00000361976.2	+	13	1662	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	806	5-phosphatase.		D -> H (in OCRL; dbSNP:rs137853842). {ECO:0000269|PubMed:21031565}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R499H(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AAATGTAATCGCATCTACCAG	0.443																																					p.R499H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496A	10						.						119.0	108.0	112.0					10																	121567499		2203	4300	6503	121557489	SO:0001583	missense	22876	exon13			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1496G>A	10.37:g.121567499G>A	ENSP00000354519:p.Arg499His	Somatic		Capture	Illumina HiSeq	Phase_I	121557489	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639633	0.96693	.	.	ENSG00000198825	ENST00000361976	T	0.20598	2.06	5.55	5.55	0.83447	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.43598	1.365	0.80722	D	1	D	0.71674	0.998	P	0.59221	0.854	T	0.01030	-1.1475	10	0.41790	T	0.15	-21.5326	19.8696	0.96845	0.0:0.0:1.0:0.0	.	499	Q9Y2H2	SAC2_HUMAN	H	499	ENSP00000354519:R499H	ENSP00000354519:R499H	R	+	2	0	INPP5F	121557489	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.747000	0.98863	2.773000	0.95371	0.585000	0.79938	CGC		0.443	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
CDC123	8872	broad.mit.edu	37	10	12280463	12280463	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:12280463C>T	ENST00000281141.4	+	10	976	c.696C>T	c.(694-696)ttC>ttT	p.F232F	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Silent_p.F191F	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	232					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)		p.F232F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CAGTTGTGTTCGATATATACA	0.299																																					p.F232F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C696T	10						.						82.0	85.0	84.0					10																	12280463		2201	4299	6500	12320469	SO:0001819	synonymous_variant	8872	exon10			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.696C>T	10.37:g.12280463C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12320469	NM_006023	A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Silent	SNP	ENST00000281141.4	37	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910721	0.17833	.	.	ENSG00000151465	ENST00000440613	.	.	.	5.7	-6.42	0.01932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.1401	17.3932	0.87439	0.0:0.1429:0.0:0.8571	.	.	.	.	X	86	.	.	R	+	1	2	CDC123	12320469	0.775000	0.28604	0.669000	0.29828	0.952000	0.60782	-0.436000	0.06922	-1.194000	0.02684	-0.194000	0.12790	CGA		0.299	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023	
PPAPDC1A	196051	broad.mit.edu	37	10	122216871	122216871	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:122216871C>T	ENST00000398250.1	+	1	406	c.54C>T	c.(52-54)ttC>ttT	p.F18F	PPAPDC1A_ENST00000439221.1_Silent_p.F18F|PPAPDC1A_ENST00000541332.1_Silent_p.F18F|PPAPDC1A_ENST00000398248.1_Silent_p.F18F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	18					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.F18F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TCGGAGTCTTCGTGTAAGTAG	0.672																																					p.F18F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	10						.						13.0	17.0	16.0					10																	122216871		1859	3852	5711	122206861	SO:0001819	synonymous_variant	196051	exon1			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.54C>T	10.37:g.122216871C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122206861	NM_001030059	A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Silent	SNP	ENST00000398250.1	37	CCDS41573.1																																																																																				0.672	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641	
HTRA1	5654	broad.mit.edu	37	10	124273754	124273754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:124273754C>T	ENST00000368984.3	+	9	1450	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	441	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S441F(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AATGGACAGTCCGTGGTCTCC	0.473																																					p.S441F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1322T	10						.						309.0	274.0	286.0					10																	124273754		2203	4300	6503	124263744	SO:0001583	missense	5654	exon9			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1322C>T	10.37:g.124273754C>T	ENSP00000357980:p.Ser441Phe	Somatic		Capture	Illumina HiSeq	Phase_I	124263744	NM_002775	D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135756	0.77662	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.30714	1.52;1.52	5.38	5.38	0.77491	PDZ/DHR/GLGF (4);	0.316364	0.30695	N	0.009071	T	0.47783	0.1464	L	0.56396	1.775	0.45541	D	0.998498	P	0.45011	0.848	P	0.52881	0.712	T	0.45556	-0.9253	10	0.72032	D	0.01	-11.6172	19.1669	0.93561	0.0:1.0:0.0:0.0	.	441	Q92743	HTRA1_HUMAN	F	441;408;182	ENSP00000357980:S441F;ENSP00000412676:S182F	ENSP00000357980:S441F	S	+	2	0	HTRA1	124263744	0.998000	0.40836	0.912000	0.35992	0.720000	0.41350	3.960000	0.56752	2.515000	0.84797	0.655000	0.94253	TCC		0.473	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775	
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:124797320C>T	ENST00000358776.4	+	3	274	c.260C>T	c.(259-261)tCg>tTg	p.S87L	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GATGAAAATTCGAAAATGGAG	0.313																																					p.S87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C260T	10						.						87.0	99.0	95.0					10																	124797320		2203	4296	6499	124787310	SO:0001583	missense	36	exon3			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.260C>T	10.37:g.124797320C>T	ENSP00000357873:p.Ser87Leu	Somatic		Capture	Illumina HiSeq	Phase_I	124787310	NM_001609	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	CCDS7634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.956020|4.956020	0.92726|0.92726	.|.	.|.	ENSG00000196177|ENSG00000196177	ENST00000411816|ENST00000358776	.|D	.|0.98958	.|-5.27	5.93|5.93	5.01|5.01	0.66863|0.66863	.|Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.|0.132878	.|0.52532	.|D	.|0.000067	.|D	.|0.98283	.|0.9431	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.53151	.|0.958	.|P	.|0.45138	.|0.471	.|D	.|0.98124	.|1.0427	.|10	.|0.72032	.|D	.|0.01	.|.	16.3753|16.3753	0.83383|0.83383	0.133:0.867:0.0:0.0|0.133:0.867:0.0:0.0	.|.	.|87	.|P45954	.|ACDSB_HUMAN	X|L	93|87	.|ENSP00000357873:S87L	.|ENSP00000357873:S87L	R|S	+|+	1|2	2|0	ACADSB|ACADSB	124787310|124787310	0.964000|0.964000	0.33143|0.33143	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	4.641000|4.641000	0.61375|0.61375	1.466000|1.466000	0.48025|0.48025	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.313	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	
ACADSB	36	broad.mit.edu	37	10	124800781	124800781	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:124800781G>T	ENST00000358776.4	+	5	581	c.567G>T	c.(565-567)aaG>aaT	p.K189N	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.K87N	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	189					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.K189N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TTGCTTTGAAGACCAGAGCTG	0.423																																					p.K189N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G567T	10						.						133.0	129.0	130.0					10																	124800781		2203	4300	6503	124790771	SO:0001583	missense	36	exon5			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.567G>T	10.37:g.124800781G>T	ENSP00000357873:p.Lys189Asn	Somatic		Capture	Illumina HiSeq	Phase_I	124790771	NM_001609	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355151	0.61293	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99089	-5.41;-5.41	6.02	2.15	0.27550	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.048151	0.85682	D	0.000000	D	0.98957	0.9645	M	0.81112	2.525	0.54753	D	0.999981	D	0.67145	0.996	D	0.69142	0.962	D	0.98908	1.0779	10	0.87932	D	0	.	9.1723	0.37089	0.3386:0.0:0.6614:0.0	.	189	P45954	ACDSB_HUMAN	N	87;189	ENSP00000357862:K87N;ENSP00000357873:K189N	ENSP00000357873:K189N	K	+	3	2	ACADSB	124790771	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	2.090000	0.41682	0.149000	0.19098	-0.748000	0.03510	AAG		0.423	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	
GPR26	2849	broad.mit.edu	37	10	125426542	125426542	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:125426542G>A	ENST00000284674.1	+	1	672	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	207					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D207N(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CAAGCGCATCGACGTGATCAC	0.642																																					p.D207N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G619A	10						.						26.0	19.0	21.0					10																	125426542		2203	4300	6503	125416532	SO:0001583	missense	2849	exon1				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.619G>A	10.37:g.125426542G>A	ENSP00000284674:p.Asp207Asn	Somatic		Capture	Illumina HiSeq	Phase_I	125416532	NM_153442	Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234914	0.79800	.	.	ENSG00000154478	ENST00000284674	T	0.71698	-0.59	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.86651	2.83	0.80722	D	1	P	0.38711	0.643	B	0.27715	0.082	T	0.77443	-0.2586	10	0.41790	T	0.15	-26.6134	16.6973	0.85339	0.0:0.0:1.0:0.0	.	207	Q8NDV2	GPR26_HUMAN	N	207	ENSP00000284674:D207N	ENSP00000284674:D207N	D	+	1	0	GPR26	125416532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.508000	0.98000	2.152000	0.67230	0.655000	0.94253	GAC		0.642	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1		
CHST15	51363	broad.mit.edu	37	10	125771915	125771915	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:125771915G>A	ENST00000346248.5	-	7	2071	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	CHST15_ENST00000435907.1_Missense_Mutation_p.R477C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	477					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R477C(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTTCCAGGCGAAGAATGAGA	0.502																																					p.R477C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1429T	10						.						150.0	113.0	126.0					10																	125771915		2203	4300	6503	125761905	SO:0001583	missense	51363	exon7			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1429C>T	10.37:g.125771915G>A	ENSP00000333947:p.Arg477Cys	Somatic		Capture	Illumina HiSeq	Phase_I	125761905	NM_015892	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994998	0.74703	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	D;D	0.84070	-1.8;-1.8	5.16	5.16	0.70880	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90653	0.4584	10	0.72032	D	0.01	-29.5448	13.5935	0.61975	0.0:0.0:0.8447:0.1552	.	477	Q7LFX5	CHSTF_HUMAN	C	477	ENSP00000333947:R477C;ENSP00000402394:R477C	ENSP00000333947:R477C	R	-	1	0	CHST15	125761905	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.449000	0.66619	2.402000	0.81655	0.655000	0.94253	CGC		0.502	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
CHST15	51363	broad.mit.edu	37	10	125804180	125804180	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:125804180C>A	ENST00000346248.5	-	3	1444	c.802G>T	c.(802-804)Gac>Tac	p.D268Y	CHST15_ENST00000435907.1_Missense_Mutation_p.D268Y|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.D268Y	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	268					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.D268Y(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCATAGAGGTCTGTGGTCCCG	0.657																																					p.D268Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802T	10						.						40.0	43.0	42.0					10																	125804180		2203	4300	6503	125794170	SO:0001583	missense	51363	exon3			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.802G>T	10.37:g.125804180C>A	ENSP00000333947:p.Asp268Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	125794170	NM_015892	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853660	0.91355	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.54071	0.59;0.59;0.59	5.65	5.65	0.86999	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70594	-0.4829	10	0.66056	D	0.02	-37.8427	17.9025	0.88909	0.0:1.0:0.0:0.0	.	268;268	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	Y	268	ENSP00000333947:D268Y;ENSP00000402394:D268Y;ENSP00000412477:D268Y	ENSP00000333947:D268Y	D	-	1	0	CHST15	125794170	1.000000	0.71417	0.977000	0.42913	0.965000	0.64279	7.496000	0.81526	2.648000	0.89879	0.655000	0.94253	GAC		0.657	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
CHST15	51363	broad.mit.edu	37	10	125805396	125805396	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:125805396G>A	ENST00000346248.5	-	2	975	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CHST15_ENST00000435907.1_Silent_p.F111F|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Silent_p.F111F	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	111					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.F111F(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTCCGTAATGGAAAGGTGATG	0.463																																					p.F111F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	10						.						99.0	109.0	106.0					10																	125805396		2203	4300	6503	125795386	SO:0001819	synonymous_variant	51363	exon2			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.333C>T	10.37:g.125805396G>A		Somatic		Capture	Illumina HiSeq	Phase_I	125795386	NM_015892	O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	CCDS7638.1																																																																																				0.463	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
EDRF1	26098	broad.mit.edu	37	10	127431786	127431786	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:127431786G>T	ENST00000356792.4	+	18	2763	c.2531G>T	c.(2530-2532)aGa>aTa	p.R844I	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.R810I|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		844					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R810I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTAACATTAGAAATGAAATT	0.363																																					p.R810I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2429T	10						.						116.0	117.0	116.0					10																	127431786		2203	4300	6503	127421776	SO:0001583	missense	26098	exon17																														ENST00000356792.4:c.2531G>T	10.37:g.127431786G>T	ENSP00000349244:p.Arg844Ile	Somatic		Capture	Illumina HiSeq	Phase_I	127421776	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283333	0.80803	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.75821	-0.97;-0.97	4.93	4.93	0.64822	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.43152	1.355	0.80722	D	1	D;D;P	0.57571	0.98;0.967;0.852	P;P;P	0.56700	0.804;0.736;0.653	T	0.71421	-0.4598	10	0.22109	T	0.4	.	12.5912	0.56443	0.0796:0.0:0.9204:0.0	.	844;191;810	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	I	844;810	ENSP00000349244:R844I;ENSP00000336727:R810I	ENSP00000336727:R810I	R	+	2	0	C10orf137	127421776	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.534000	0.82004	2.274000	0.75844	0.637000	0.83480	AGA		0.363	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
BCCIP	56647	broad.mit.edu	37	10	127512217	127512217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:127512217G>T	ENST00000278100.6	+	1	103	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	BCCIP_ENST00000429863.2_Nonsense_Mutation_p.E31*|BCCIP_ENST00000299130.3_Nonsense_Mutation_p.E31*|UROS_ENST00000368797.4_5'Flank|UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368774.1_5'Flank|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.E31*	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	31					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)	p.E31*(1)		breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				agaggaaaaagaagtcgaaaa	0.567																																					p.E31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G91T	10						.						169.0	148.0	155.0					10																	127512217		2203	4300	6503	127502207	SO:0001587	stop_gained	56647	exon1			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.91G>T	10.37:g.127512217G>T	ENSP00000278100:p.Glu31*	Somatic		Capture	Illumina HiSeq	Phase_I	127502207	NM_016567	B3KP45|Q8ND15|Q96GC4|Q9P288	Nonsense_Mutation	SNP	ENST00000278100.6	37	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255939	0.80135	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	.	.	.	5.05	4.13	0.48395	.	1.417150	0.04889	N	0.449244	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-18.6926	9.9167	0.41439	0.0974:0.0:0.9025:0.0	.	.	.	.	X	31	.	ENSP00000278100:E31X	E	+	1	0	BCCIP	127502207	0.017000	0.18338	0.008000	0.14137	0.004000	0.04260	1.878000	0.39608	2.352000	0.79861	0.561000	0.74099	GAA		0.567	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1		
DHX32	55760	broad.mit.edu	37	10	127527737	127527737	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:127527737G>A	ENST00000284690.3	-	9	2204	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.R196C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.R491C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	572						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R572C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTAATCACGACACCACTTT	0.453																																					p.R572C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1714T	10						.						106.0	97.0	100.0					10																	127527737		2203	4300	6503	127517727	SO:0001583	missense	55760	exon9				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1714C>T	10.37:g.127527737G>A	ENSP00000284690:p.Arg572Cys	Somatic		Capture	Illumina HiSeq	Phase_I	127517727	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389125	0.42410	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.19938	2.11;3.89;3.6	5.54	3.59	0.41128	.	0.618446	0.17770	N	0.162612	T	0.08846	0.0219	N	0.08118	0	0.19300	N	0.99998	D	0.56968	0.978	B	0.32805	0.153	T	0.21999	-1.0229	10	0.87932	D	0	-9.6028	12.7102	0.57086	0.0:0.1235:0.7493:0.1272	.	572	Q7L7V1	DHX32_HUMAN	C	196;572;491	ENSP00000357710:R196C;ENSP00000284690:R572C;ENSP00000284688:R491C	ENSP00000284688:R491C	R	-	1	0	DHX32	127517727	0.996000	0.38824	0.880000	0.34516	0.938000	0.57974	3.038000	0.49783	2.592000	0.87571	0.650000	0.86243	CGT		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
ADAM12	8038	broad.mit.edu	37	10	128019055	128019055	+	Silent	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:128019055T>G	ENST00000368679.4	-	2	421	c.112A>C	c.(112-114)Aga>Cga	p.R38R	ADAM12_ENST00000368676.4_Silent_p.R38R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	38					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R38R(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCATCAGCTCTTCCTTGGTTC	0.463																																					p.R38R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A112C	10						.						129.0	130.0	130.0					10																	128019055		2203	4300	6503	128009045	SO:0001819	synonymous_variant	8038	exon2			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.112A>C	10.37:g.128019055T>G		Somatic		Capture	Illumina HiSeq	Phase_I	128009045	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	CCDS7653.1																																																																																				0.463	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
MKI67	4288	broad.mit.edu	37	10	129904800	129904800	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:129904800A>C	ENST00000368654.3	-	13	5679	c.5304T>G	c.(5302-5304)ttT>ttG	p.F1768L	MKI67_ENST00000368653.3_Missense_Mutation_p.F1408L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1768	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.F1768L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAAATGCTAAAAATTCTTCTT	0.478																																					p.F1408L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4224G	10						.						180.0	163.0	169.0					10																	129904800		2203	4300	6503	129794790	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5304T>G	10.37:g.129904800A>C	ENSP00000357643:p.Phe1768Leu	Somatic		Capture	Illumina HiSeq	Phase_I	129794790	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	0.350	-0.945586	0.02304	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01804	4.63;4.63	3.12	-2.83	0.05769	.	1.984400	0.02927	N	0.138675	T	0.01661	0.0053	N	0.24115	0.695	0.09310	N	1	B;B;B	0.20052	0.004;0.041;0.019	B;B;B	0.19666	0.001;0.022;0.026	T	0.48422	-0.9037	10	0.19147	T	0.46	.	8.7757	0.34760	0.7863:0.0:0.2137:0.0	.	1767;1408;1768	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1768;1408;1767	ENSP00000357643:F1768L;ENSP00000357642:F1408L	ENSP00000357642:F1408L	F	-	3	2	MKI67	129794790	.	.	0.001000	0.08648	0.034000	0.12701	.	.	-0.404000	0.07610	0.460000	0.39030	TTT		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MCM10	55388	broad.mit.edu	37	10	13230975	13230975	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:13230975G>A	ENST00000484800.2	+	10	1416	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	MCM10_ENST00000378694.1_Missense_Mutation_p.R437Q|MCM10_ENST00000378714.3_Missense_Mutation_p.R437Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	438					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R438Q(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTGGAGGACGAATTCCAAAG	0.537																																					p.R437Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	10						.						127.0	123.0	124.0					10																	13230975		2203	4300	6503	13270981	SO:0001583	missense	55388	exon10			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1313G>A	10.37:g.13230975G>A	ENSP00000418268:p.Arg438Gln	Somatic		Capture	Illumina HiSeq	Phase_I	13270981	NM_018518	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177148	0.57692	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15487	2.43;2.43;2.42	5.62	4.71	0.59529	.	0.351100	0.33477	N	0.004878	T	0.07369	0.0186	N	0.14661	0.345	0.37231	D	0.905699	B;P;P	0.37864	0.293;0.61;0.476	B;B;B	0.25140	0.028;0.058;0.026	T	0.34477	-0.9827	10	0.12766	T	0.61	-23.8259	11.7055	0.51595	0.139:0.0:0.861:0.0	.	437;437;438	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	Q	437;438;438;437	ENSP00000367986:R437Q;ENSP00000418268:R438Q;ENSP00000367966:R437Q	ENSP00000354945:R438Q	R	+	2	0	MCM10	13270981	0.998000	0.40836	0.974000	0.42286	0.996000	0.88848	3.057000	0.49931	2.805000	0.96524	0.655000	0.94253	CGA		0.537	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
MKI67	4288	broad.mit.edu	37	10	129905984	129905984	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:129905984C>T	ENST00000368654.3	-	13	4495	c.4120G>A	c.(4120-4122)Gaa>Aaa	p.E1374K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1014K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1374	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1374K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGAGAAGATTCGCAGGGCATT	0.522																																					p.E1014K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3040A	10						.						142.0	136.0	138.0					10																	129905984		2203	4300	6503	129795974	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4120G>A	10.37:g.129905984C>T	ENSP00000357643:p.Glu1374Lys	Somatic		Capture	Illumina HiSeq	Phase_I	129795974	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042057	0.01997	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01887	4.58;4.58	4.02	0.275	0.15659	.	.	.	.	.	T	0.00695	0.0023	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47686	-0.9098	9	0.18276	T	0.48	.	3.5282	0.07766	0.0:0.2365:0.2163:0.5472	.	1373;1014;1374	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1374;1014;1373	ENSP00000357643:E1374K;ENSP00000357642:E1014K	ENSP00000357642:E1014K	E	-	1	0	MKI67	129795974	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.526000	0.06207	-0.041000	0.13558	-0.415000	0.06103	GAA		0.522	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
PWWP2B	170394	broad.mit.edu	37	10	134219629	134219629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:134219629C>A	ENST00000305233.5	+	2	1684	c.1625C>A	c.(1624-1626)tCa>tAa	p.S542*	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	542	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.							p.S542*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTGTCTATTTCAAAACTCTCC	0.478																																					p.S542X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1625A	10						.						134.0	141.0	138.0					10																	134219629		2202	4300	6502	134069619	SO:0001587	stop_gained	170394	exon2			AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1625C>A	10.37:g.134219629C>A	ENSP00000306324:p.Ser542*	Somatic		Capture	Illumina HiSeq	Phase_I	134069619	NM_138499	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Nonsense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	C	39	7.658123	0.98415	.	.	ENSG00000171813	ENST00000305233	.	.	.	4.28	4.28	0.50868	.	0.095233	0.43579	U	0.000551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2808	0.82678	0.0:1.0:0.0:0.0	.	.	.	.	X	542	.	ENSP00000306324:S542X	S	+	2	0	PWWP2B	134069619	1.000000	0.71417	0.653000	0.29593	0.979000	0.70002	5.333000	0.65917	2.396000	0.81511	0.563000	0.77884	TCA		0.478	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
BEND7	222389	broad.mit.edu	37	10	13481286	13481286	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:13481286T>C	ENST00000396900.2	-	9	1445	c.1446A>G	c.(1444-1446)tcA>tcG	p.S482S	BEND7_ENST00000341083.3_Silent_p.S431S|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	482						extracellular vesicular exosome (GO:0070062)		p.S431S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ttatgagGAATGAATGGTGCT	0.507																																					p.S431S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1293G	10						.						292.0	263.0	273.0					10																	13481286		2203	4300	6503	13521292	SO:0001819	synonymous_variant	222389	exon9			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1446A>G	10.37:g.13481286T>C		Somatic		Capture	Illumina HiSeq	Phase_I	13521292	NM_152751	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37																																																																																					0.507	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751	
ADAM8	101	broad.mit.edu	37	10	135082267	135082267	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:135082267C>T	ENST00000445355.3	-	19	2098	c.2048G>A	c.(2047-2049)aGc>aAc	p.S683N	ADAM8_ENST00000485491.2_Missense_Mutation_p.S618N|ADAM8_ENST00000415217.3_Intron	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	683					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)	p.S683N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CAGGATGCGGCTCCGGGCTTT	0.672																																					p.S683N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2048A	10						.						73.0	55.0	61.0					10																	135082267		2199	4300	6499	134932257	SO:0001583	missense	101	exon19			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.2048G>A	10.37:g.135082267C>T	ENSP00000453302:p.Ser683Asn	Somatic		Capture	Illumina HiSeq	Phase_I	134932257	NM_001109	B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	CCDS31319.2																																																																																				0.672	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109	
DIP2C	22982	broad.mit.edu	37	10	532462	532462	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:532462T>C	ENST00000280886.6	-	2	181	c.94A>G	c.(94-96)Aca>Gca	p.T32A	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	32	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T32A(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCTTTTTGTGTGATGTCACCT	0.443																																					p.T32A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A94G	10						.						241.0	191.0	208.0					10																	532462		2203	4300	6503	522462	SO:0001583	missense	22982	exon2			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.94A>G	10.37:g.532462T>C	ENSP00000280886:p.Thr32Ala	Somatic		Capture	Illumina HiSeq	Phase_I	522462	NM_014974	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.670053	0.88348	.	.	ENSG00000151240	ENST00000280886;ENST00000423550	T;T	0.70869	-0.52;-0.52	5.89	5.89	0.94794	DMAP1-binding (1);	0.058280	0.64402	N	0.000004	T	0.81123	0.4757	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82267	-0.0542	10	0.62326	D	0.03	-17.1044	14.9345	0.70944	0.0:0.0:0.0:1.0	.	32	Q9Y2E4	DIP2C_HUMAN	A	32	ENSP00000280886:T32A;ENSP00000408786:T32A	ENSP00000280886:T32A	T	-	1	0	DIP2C	522462	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.631000	0.74277	2.267000	0.75376	0.529000	0.55759	ACA		0.443	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
LARP4B	23185	broad.mit.edu	37	10	871033	871033	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:871033C>T	ENST00000316157.3	-	12	1496	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	486					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.E486K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGAGAGGATTCGAGACTGCCT	0.428																																					p.E486K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1456A	10						.						79.0	82.0	81.0					10																	871033		2203	4300	6503	861033	SO:0001583	missense	23185	exon12			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1456G>A	10.37:g.871033C>T	ENSP00000326128:p.Glu486Lys	Somatic		Capture	Illumina HiSeq	Phase_I	861033	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007963|2.007963	0.35415|0.35415	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.35789|.	1.29|.	5.68|5.68	4.75|4.75	0.60458|0.60458	.|.	0.182138|.	0.56097|.	D|.	0.000026|.	T|T	0.59985|0.59985	0.2234|0.2234	L|L	0.39898|0.39898	1.24|1.24	0.43593|0.43593	D|D	0.995941|0.995941	D|.	0.54601|.	0.967|.	B|.	0.39840|.	0.311|.	T|T	0.56517|0.56517	-0.7966|-0.7966	10|5	0.32370|.	T|.	0.25|.	-24.6448|-24.6448	16.421|16.421	0.83758|0.83758	0.0:0.8684:0.1316:0.0|0.0:0.8684:0.1316:0.0	.|.	486|.	Q92615|.	LAR4B_HUMAN|.	K|Q	486|51	ENSP00000326128:E486K|.	ENSP00000326128:E486K|.	E|R	-|-	1|2	0|0	LARP4B|LARP4B	861033|861033	1.000000|1.000000	0.71417|0.71417	0.128000|0.128000	0.21923|0.21923	0.051000|0.051000	0.14879|0.14879	6.343000|6.343000	0.72986|0.72986	1.348000|1.348000	0.45733|0.45733	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.428	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
PITRM1	10531	broad.mit.edu	37	10	3212319	3212319	+	Missense_Mutation	SNP	T	T	G	rs377628118		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:3212319T>G	ENST00000224949.4	-	2	170	c.136A>C	c.(136-138)Atc>Ctc	p.I46L	PITRM1_ENST00000380989.2_Missense_Mutation_p.I46L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	46					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.I46L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AATCCATGGATCTTGTCTCCT	0.502																																					p.I46L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A136C	10						.						123.0	125.0	124.0					10																	3212319		1999	4168	6167	3202319	SO:0001583	missense	10531	exon2			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.136A>C	10.37:g.3212319T>G	ENSP00000224949:p.Ile46Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3202319	NM_014889	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	T	9.668	1.145935	0.21288	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989	T;T	0.27890	1.64;1.64	5.6	5.6	0.85130	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.044144	0.85682	D	0.000000	T	0.20820	0.0501	N	0.25890	0.77	0.47308	D	0.999381	B;B;B;B;B	0.14438	0.002;0.01;0.006;0.006;0.002	B;B;B;B;B	0.18871	0.023;0.02;0.009;0.009;0.009	T	0.06320	-1.0833	10	0.02654	T	1	.	15.7771	0.78232	0.0:0.0:0.0:1.0	.	39;46;46;46;39	E9PDX6;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	L	46;39;46	ENSP00000224949:I46L;ENSP00000370377:I46L	ENSP00000224949:I46L	I	-	1	0	PITRM1	3202319	1.000000	0.71417	0.977000	0.42913	0.031000	0.12232	4.051000	0.57412	2.115000	0.64714	0.482000	0.46254	ATC		0.502	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
PRKCQ	5588	broad.mit.edu	37	10	6472834	6472834	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:6472834G>A	ENST00000263125.5	-	17	2002	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R510W|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R572W	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	635	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.R635W(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTGATCTCCCGAAACAAAGGG	0.592																																					p.R635W	Ovarian(50;572 1126 10530 25349 30594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1903T	10						.						111.0	97.0	102.0					10																	6472834		2203	4300	6503	6512840	SO:0001583	missense	5588	exon17			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1903C>T	10.37:g.6472834G>A	ENSP00000263125:p.Arg635Trp	Somatic		Capture	Illumina HiSeq	Phase_I	6512840	NM_006257	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848282	0.71603	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.54479	0.57;0.57;0.57	5.05	4.05	0.47172	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.371449	0.30329	N	0.009872	T	0.67192	0.2867	M	0.90595	3.13	0.47621	D	0.999475	D;D;D;D	0.63880	0.971;0.993;0.972;0.989	B;P;P;B	0.48982	0.294;0.472;0.597;0.239	T	0.77378	-0.2610	10	0.62326	D	0.03	.	14.9464	0.71035	0.0:0.0:0.8473:0.1527	.	510;407;572;635	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	W	635;572;510	ENSP00000263125:R635W;ENSP00000380361:R572W;ENSP00000441752:R510W	ENSP00000263125:R635W	R	-	1	2	PRKCQ	6512840	0.999000	0.42202	0.986000	0.45419	0.937000	0.57800	2.813000	0.48002	2.330000	0.79161	0.650000	0.86243	CGG		0.592	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
SFMBT2	57713	broad.mit.edu	37	10	7217955	7217955	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:7217955A>G	ENST00000361972.4	-	17	2071	c.1981T>C	c.(1981-1983)Tac>Cac	p.Y661H	SFMBT2_ENST00000397167.1_Missense_Mutation_p.Y661H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	661					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.Y661H(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TACTTACTGTATTTGGTTTTG	0.383																																					p.Y661H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1981C	10						.						171.0	170.0	170.0					10																	7217955		2203	4300	6503	7257961	SO:0001583	missense	57713	exon17			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1981T>C	10.37:g.7217955A>G	ENSP00000355109:p.Tyr661His	Somatic		Capture	Illumina HiSeq	Phase_I	7257961	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572587	0.65765	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.19105	2.17;2.17	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.34304	-0.9834	10	0.40728	T	0.16	.	16.2025	0.82095	1.0:0.0:0.0:0.0	.	661	Q5VUG0	SMBT2_HUMAN	H	661	ENSP00000355109:Y661H;ENSP00000380353:Y661H	ENSP00000355109:Y661H	Y	-	1	0	SFMBT2	7257961	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	8.809000	0.91944	2.231000	0.72958	0.459000	0.35465	TAC		0.383	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
ITIH2	3698	broad.mit.edu	37	10	7786831	7786831	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:7786831A>G	ENST00000358415.4	+	19	2652	c.2486A>G	c.(2485-2487)cAt>cGt	p.H829R	ITIH2_ENST00000379587.4_Missense_Mutation_p.H818R	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	829					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H829R(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTTTTACTTCATCGTGTTTGG	0.423																																					p.H829R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2486G	10						.						157.0	145.0	149.0					10																	7786831		2203	4300	6503	7826837	SO:0001583	missense	3698	exon19			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2486A>G	10.37:g.7786831A>G	ENSP00000351190:p.His829Arg	Somatic		Capture	Illumina HiSeq	Phase_I	7826837	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222430	0.79464	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.18960	2.18;2.18	5.79	5.79	0.91817	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67094	-0.5757	10	0.87932	D	0	-26.7298	16.1105	0.81261	1.0:0.0:0.0:0.0	.	829	P19823	ITIH2_HUMAN	R	829;818	ENSP00000351190:H829R;ENSP00000368906:H818R	ENSP00000351190:H829R	H	+	2	0	ITIH2	7826837	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	8.859000	0.92264	2.209000	0.71365	0.482000	0.46254	CAT		0.423	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
TAF3	83860	broad.mit.edu	37	10	7866478	7866478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:7866478G>T	ENST00000344293.5	+	2	570	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	122					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.E122*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGAAAGAAAAGAATACATTCC	0.383																																					p.E122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G364T	10						.						218.0	199.0	205.0					10																	7866478		1885	4117	6002	7906484	SO:0001587	stop_gained	83860	exon2			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.364G>T	10.37:g.7866478G>T	ENSP00000340271:p.Glu122*	Somatic		Capture	Illumina HiSeq	Phase_I	7906484	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	40	7.971340	0.98588	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	.	.	.	5.28	5.28	0.74379	.	0.113417	0.36665	N	0.002479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.1692	18.9356	0.92584	0.0:0.0:1.0:0.0	.	.	.	.	X	122	.	ENSP00000340271:E122X	E	+	1	0	TAF3	7906484	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.790000	0.99075	2.467000	0.83353	0.655000	0.94253	GAA		0.383	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
PRPF18	8559	broad.mit.edu	37	10	13642285	13642285	+	Silent	SNP	G	G	A	rs11540073		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:13642285G>A	ENST00000378572.3	+	3	346	c.186G>A	c.(184-186)tcG>tcA	p.S62S		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	62					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)	p.S62S(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TAACTTCATCGAATCCAGTGT	0.333																																					p.S62S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G186A	10						.						108.0	105.0	106.0					10																	13642285		2203	4300	6503	13682291	SO:0001819	synonymous_variant	8559	exon3			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.186G>A	10.37:g.13642285G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13682291	NM_003675	Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	CCDS7100.1																																																																																				0.333	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1		
CDNF	441549	broad.mit.edu	37	10	14867604	14867604	+	5'UTR	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:14867604C>T	ENST00000378442.1	-	0	456				CDNF_ENST00000378441.2_Intron			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)		p.A87T(1)		breast(2)|large_intestine(2)|lung(1)	5						TCTTTTGTGGCTCCTAGATAA	0.408																																					p.A87T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259A	10						.						155.0	151.0	152.0					10																	14867604		2203	4300	6503	14907610	SO:0001623	5_prime_UTR_variant	441549	exon3			BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.-48G>A	10.37:g.14867604C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14907610	NM_001029954	A2RUU0|B4DVW3	Missense_Mutation	SNP	ENST00000378442.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.481976	0.96307	.	.	ENSG00000185267	ENST00000465530	.	.	.	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.83774	0.5327	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84268	0.0487	9	0.72032	D	0.01	-20.1568	19.5025	0.95103	0.0:1.0:0.0:0.0	.	87	Q49AH0	CDNF_HUMAN	T	87	.	ENSP00000419395:A87T	A	-	1	0	CDNF	14907610	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	7.305000	0.78891	2.907000	0.99374	0.609000	0.83330	GCC		0.408	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954	
SUV39H2	79723	broad.mit.edu	37	10	14939485	14939485	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:14939485G>T	ENST00000354919.6	+	3	818	c.818G>T	c.(817-819)aGa>aTa	p.R273I	DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000313519.5_Missense_Mutation_p.R213I|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	273	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R213I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGATTAAAAGAATGAGTTTT	0.383																																					p.R273I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818T	10						.						73.0	69.0	71.0					10																	14939485		2203	4300	6503	14979491	SO:0001583	missense	79723	exon3			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.818G>T	10.37:g.14939485G>T	ENSP00000346997:p.Arg273Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14979491	NM_001193424	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645649	0.47258	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.89681	-1.51;-1.51;-2.55	5.86	4.96	0.65561	SET domain (3);	0.200646	0.44688	D	0.000427	D	0.84538	0.5494	L	0.53729	1.69	0.80722	D	1	B	0.23249	0.082	B	0.21546	0.035	T	0.81055	-0.1106	10	0.51188	T	0.08	.	6.9776	0.24686	0.1531:0.1541:0.6928:0.0	.	273	Q9H5I1	SUV92_HUMAN	I	273;213;213	ENSP00000346997:R273I;ENSP00000319208:R213I;ENSP00000392201:R213I	ENSP00000319208:R213I	R	+	2	0	SUV39H2	14979491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.691000	0.47010	1.631000	0.50456	0.650000	0.86243	AGA		0.383	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670	
PTER	9317	broad.mit.edu	37	10	16526624	16526624	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:16526624A>C	ENST00000378000.1	+	3	487	c.241A>C	c.(241-243)Aag>Cag	p.K81Q	PTER_ENST00000535784.2_Missense_Mutation_p.K81Q|PTER_ENST00000298942.3_Missense_Mutation_p.K81Q|PTER_ENST00000423462.2_Missense_Mutation_p.K81Q	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	81					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.K81Q(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AGAAGCCATAAAGGAAGAACT	0.398																																					p.K81Q	Ovarian(2;46 150 15648 38137 47908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A241C	10						.						61.0	70.0	67.0					10																	16526624		2203	4300	6503	16566630	SO:0001583	missense	9317	exon3			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.241A>C	10.37:g.16526624A>C	ENSP00000367239:p.Lys81Gln	Somatic		Capture	Illumina HiSeq	Phase_I	16566630	NM_001001484	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	A	8.514	0.867211	0.17250	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.87	4.72	0.59763	.	0.484835	0.24130	N	0.041280	T	0.40979	0.1139	L	0.50333	1.59	0.23010	N	0.998433	B;B	0.22983	0.078;0.047	B;B	0.32583	0.091;0.148	T	0.30001	-0.9993	10	0.25106	T	0.35	-6.5261	13.1574	0.59524	0.8665:0.1335:0.0:0.0	.	81;81	Q96BW5-2;Q96BW5	.;PTER_HUMAN	Q	81	ENSP00000439485:K81Q;ENSP00000389535:K81Q;ENSP00000367239:K81Q;ENSP00000298942:K81Q	ENSP00000298942:K81Q	K	+	1	0	PTER	16566630	1.000000	0.71417	0.006000	0.13384	0.298000	0.27526	4.911000	0.63328	1.027000	0.39758	0.533000	0.62120	AAG		0.398	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	
CUBN	8029	broad.mit.edu	37	10	17146544	17146544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:17146544C>A	ENST00000377833.4	-	12	1356	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	431					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E431*(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGATGTTTTCTGTACAGTTG	0.413																																					p.E431X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1291T	10						.						121.0	88.0	99.0					10																	17146544		2203	4300	6503	17186550	SO:0001587	stop_gained	8029	exon12			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1291G>T	10.37:g.17146544C>A	ENSP00000367064:p.Glu431*	Somatic		Capture	Illumina HiSeq	Phase_I	17186550	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	40	8.029927	0.98619	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.45	5.45	0.79879	.	0.000000	0.47852	D	0.000206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2841	0.94063	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	ENSP00000367064:E431X	E	-	1	0	CUBN	17186550	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.827000	0.62723	2.575000	0.86900	0.655000	0.94253	GAA		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
NEBL	10529	broad.mit.edu	37	10	21098790	21098790	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:21098790G>A	ENST00000377122.4	-	25	2952	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	852	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.F852F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATCAAGGTCGAAGATGGAGC	0.388																																					p.F852F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2556T	10						.						95.0	94.0	94.0					10																	21098790		2203	4300	6503	21138796	SO:0001819	synonymous_variant	10529	exon25			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2556C>T	10.37:g.21098790G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21138796	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.388	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
SKIDA1	387640	broad.mit.edu	37	10	21804434	21804434	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:21804434A>C	ENST00000449193.2	-	4	4570	c.2318T>G	c.(2317-2319)tTt>tGt	p.F773C	SKIDA1_ENST00000444772.3_Missense_Mutation_p.F694C	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	692						nucleus (GO:0005634)		p.F773C(2)									CCTGGCACCAAATTTATATTC	0.448																																					p.F773C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2318G	10						.						118.0	108.0	111.0					10																	21804434		1829	4082	5911	21844440	SO:0001583	missense	387640	exon4			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2318T>G	10.37:g.21804434A>C	ENSP00000410041:p.Phe773Cys	Somatic		Capture	Illumina HiSeq	Phase_I	21844440	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.949795	0.34377	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.75	5.75	0.90469	.	0.415585	0.26804	N	0.022416	T	0.63546	0.2520	L	0.32530	0.975	0.42954	D	0.99438	D	0.76494	0.999	P	0.58820	0.846	T	0.67268	-0.5713	9	0.72032	D	0.01	-0.1593	15.5347	0.75993	1.0:0.0:0.0:0.0	.	773	E9PAX1	.	C	773;694	.	ENSP00000442432:F694C	F	-	2	0	C10orf140	21844440	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.449000	0.60034	2.323000	0.78572	0.533000	0.62120	TTT		0.448	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
MLLT10	8028	broad.mit.edu	37	10	21962529	21962529	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:21962529A>C	ENST00000307729.7	+	11	1480	c.1302A>C	c.(1300-1302)gaA>gaC	p.E434D	MLLT10_ENST00000446906.2_Missense_Mutation_p.E434D|MLLT10_ENST00000377059.3_Missense_Mutation_p.E434D|MLLT10_ENST00000377072.3_Missense_Mutation_p.E434D			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	434	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E434D(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAAGCTTTGAAAATTCACCTG	0.433			T	"""MLL, PICALM, CDK6"""	AL																																p.E434D			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1302C	10						.						158.0	177.0	170.0					10																	21962529		2203	4300	6503	22002535	SO:0001583	missense	8028	exon10			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1302A>C	10.37:g.21962529A>C	ENSP00000307411:p.Glu434Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22002535	NM_001195626	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.20|11.20	1.568819|1.568819	0.28003|0.28003	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059|ENST00000420525	T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43|.	5.65|5.65	1.8|1.8	0.24995|0.24995	.|.	0.526500|.	0.21716|.	N|.	0.070200|.	T|T	0.32224|0.32224	0.0822|0.0822	N|N	0.11201|0.11201	0.11|0.11	0.36730|0.36730	D|D	0.881647|0.881647	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.17410|0.17410	-1.0370|-1.0370	10|5	0.08837|.	T|.	0.75|.	.|.	8.4646|8.4646	0.32949|0.32949	0.5339:0.3881:0.0779:0.0|0.5339:0.3881:0.0779:0.0	.|.	280;434;434;434|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	D|T	434;434;434;280;434|8	ENSP00000366272:E434D;ENSP00000401406:E434D;ENSP00000307411:E434D;ENSP00000366258:E434D|.	ENSP00000307411:E434D|.	E|K	+|+	3|2	2|0	MLLT10|MLLT10	22002535|22002535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.726000|1.726000	0.38085|0.38085	0.423000|0.423000	0.26033|0.26033	0.477000|0.477000	0.44152|0.44152	GAA|AAA		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		
SPAG6	9576	broad.mit.edu	37	10	22657596	22657596	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:22657596G>T	ENST00000376624.3	+	4	603	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.R230I|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.R154I|SPAG6_ENST00000538630.1_Missense_Mutation_p.R129I	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	154					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R154I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TATATTGCAAGACATAATGCA	0.368																																					p.R154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461T	10						.						64.0	64.0	64.0					10																	22657596		2203	4300	6503	22697602	SO:0001583	missense	9576	exon4			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.461G>T	10.37:g.22657596G>T	ENSP00000365811:p.Arg154Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22697602	NM_012443	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807318	0.70797	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.7	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.043185	0.85682	D	0.000000	T	0.71558	0.3354	M	0.70903	2.155	0.80722	D	1	B;B;P;P	0.35894	0.222;0.317;0.47;0.526	B;B;B;B	0.37888	0.213;0.132;0.26;0.213	T	0.73940	-0.3824	10	0.56958	D	0.05	-23.8731	14.5198	0.67842	0.0703:0.0:0.9297:0.0	.	129;230;154;154	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	I	154;230;129;154;230	ENSP00000365811:R154I;ENSP00000365788:R230I;ENSP00000441325:R129I;ENSP00000323599:R154I;ENSP00000406594:R230I	ENSP00000323599:R154I	R	+	2	0	SPAG6	22697602	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.384000	0.73177	1.401000	0.46761	0.655000	0.94253	AGA		0.368	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
PIP4K2A	5305	broad.mit.edu	37	10	22862345	22862345	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:22862345G>T	ENST00000376573.4	-	5	762	c.534C>A	c.(532-534)ttC>ttA	p.F178L	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.F24L|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.F119L|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	178	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.			QF -> HL (in Ref. 3; AAB35041). {ECO:0000305}.	megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.F178L(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						ACATGCCCAAGAACTGGGGAA	0.388																																					p.F178L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C534A	10						.						113.0	95.0	101.0					10																	22862345		2203	4300	6503	22902351	SO:0001583	missense	5305	exon5			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.534C>A	10.37:g.22862345G>T	ENSP00000365757:p.Phe178Leu	Somatic		Capture	Illumina HiSeq	Phase_I	22902351	NM_005028	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227838	0.79576	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335;ENST00000422321;ENST00000376565	T;T;T	0.37915	1.17;1.17;1.17	5.5	4.37	0.52481	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.094982	0.85682	D	0.000000	T	0.53142	0.1778	M	0.84773	2.715	0.80722	D	1	P;P	0.51933	0.874;0.949	P;P	0.56127	0.734;0.792	T	0.58515	-0.7623	10	0.87932	D	0	-25.8854	7.2454	0.26119	0.1914:0.0:0.8086:0.0	.	24;178	B4DH09;P48426	.;PI42A_HUMAN	L	178;24;119;130;137	ENSP00000365757:F178L;ENSP00000326294:F24L;ENSP00000442098:F119L	ENSP00000326294:F24L	F	-	3	2	PIP4K2A	22902351	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.379000	0.44318	2.748000	0.94277	0.655000	0.94253	TTC		0.388	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028	
ARHGAP21	57584	broad.mit.edu	37	10	24909406	24909406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:24909406G>A	ENST00000396432.2	-	9	1904	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P260L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	472					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.P472L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCACTTCTTGGACAATACTT	0.453																																					p.P473L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1418T	10						.						26.0	26.0	26.0					10																	24909406		2198	4274	6472	24949412	SO:0001583	missense	57584	exon9			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1418C>T	10.37:g.24909406G>A	ENSP00000379709:p.Pro473Leu	Somatic		Capture	Illumina HiSeq	Phase_I	24949412	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783755	0.70222	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.64085	2.0;1.79;-0.08;-0.01	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81206	0.4774	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.989	T	0.81647	-0.0838	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	463;472	F8W9U9;Q5T5U3	.;RHG21_HUMAN	L	473;462;260;463;473;308	ENSP00000379709:P473L;ENSP00000365604:P260L;ENSP00000365592:P463L;ENSP00000405018:P473L	ENSP00000365604:P260L	P	-	2	0	ARHGAP21	24949412	1.000000	0.71417	0.767000	0.31495	0.698000	0.40448	8.697000	0.91307	2.937000	0.99478	0.650000	0.86243	CCA		0.453	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ARHGAP21	57584	broad.mit.edu	37	10	24909912	24909912	+	Silent	SNP	G	G	A	rs374016679		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:24909912G>A	ENST00000396432.2	-	9	1398	c.912C>T	c.(910-912)ggC>ggT	p.G304G	ARHGAP21_ENST00000320481.6_Silent_p.G91G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	303					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.G303G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCTCACTCACGCCATACCTCA	0.428																																					p.G304G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912T	10						.	G		1,4405	2.1+/-5.4	0,1,2202	159.0	150.0	153.0		912	-1.0	0.0	10		153	0,8600		0,0,4300	no	coding-synonymous	ARHGAP21	NM_020824.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		304/1959	24909912	1,13005	2203	4300	6503	24949918	SO:0001819	synonymous_variant	57584	exon9			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.912C>T	10.37:g.24909912G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24949918	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	CCDS7144.2																																																																																				0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
GPR158	57512	broad.mit.edu	37	10	25701229	25701229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:25701229G>T	ENST00000376351.3	+	4	1521	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	388					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E388*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTGTCAGAAGAAGCCTATGT	0.473																																					p.E388X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1162T	10						.						198.0	186.0	190.0					10																	25701229		2203	4300	6503	25741235	SO:0001587	stop_gained	57512	exon4			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1162G>T	10.37:g.25701229G>T	ENSP00000365529:p.Glu388*	Somatic		Capture	Illumina HiSeq	Phase_I	25741235	NM_020752	Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	41	9.082834	0.99059	.	.	ENSG00000151025	ENST00000376351	.	.	.	6.16	6.16	0.99307	.	0.133888	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	388	.	ENSP00000365529:E388X	E	+	1	0	GPR158	25741235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.180000	0.58296	2.937000	0.99478	0.650000	0.86243	GAA		0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25887383	25887383	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:25887383G>T	ENST00000376351.3	+	11	3187	c.2828G>T	c.(2827-2829)aGa>aTa	p.R943I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	943					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R943I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGACAAACAGAAATCACTCA	0.438																																					p.R943I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2828T	10						.						109.0	124.0	119.0					10																	25887383		2203	4300	6503	25927389	SO:0001583	missense	57512	exon11			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2828G>T	10.37:g.25887383G>T	ENSP00000365529:p.Arg943Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25927389	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665058	0.29604	.	.	ENSG00000151025	ENST00000376351	T	0.31769	1.48	5.52	5.52	0.82312	.	0.335067	0.29537	N	0.011870	T	0.23846	0.0577	L	0.50333	1.59	0.09310	N	0.999999	P	0.35363	0.497	B	0.28553	0.091	T	0.32903	-0.9889	10	0.54805	T	0.06	.	7.2056	0.25905	0.2049:0.0:0.7951:0.0	.	943	Q5T848	GP158_HUMAN	I	943	ENSP00000365529:R943I	ENSP00000365529:R943I	R	+	2	0	GPR158	25927389	1.000000	0.71417	0.070000	0.20053	0.966000	0.64601	2.349000	0.44054	2.583000	0.87209	0.650000	0.86243	AGA		0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:26446395C>T	ENST00000265944.5	+	26	3116	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	984	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R984*(3)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363																																					p.R984X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C2950T	10						.						113.0	110.0	111.0					10																	26446395		2203	4300	6503	26486401	SO:0001587	stop_gained	53904	exon26			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2950C>T	10.37:g.26446395C>T	ENSP00000265944:p.Arg984*	Somatic		Capture	Illumina HiSeq	Phase_I	26486401	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	42	9.671764	0.99234	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8211	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	984	.	ENSP00000265944:R984X	R	+	1	2	MYO3A	26486401	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.217000	0.51184	2.524000	0.85096	0.655000	0.94253	CGA		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26457684	26457684	+	Missense_Mutation	SNP	G	G	A	rs267602452		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:26457684G>A	ENST00000265944.5	+	28	3321	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1052	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1052Q(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATCTAATGCGAAAGGAAGCT	0.348																																					p.R1052Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3155A	10						.						124.0	120.0	121.0					10																	26457684		2203	4300	6503	26497690	SO:0001583	missense	53904	exon28			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3155G>A	10.37:g.26457684G>A	ENSP00000265944:p.Arg1052Gln	Somatic		Capture	Illumina HiSeq	Phase_I	26497690	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060861	0.55432	.	.	ENSG00000095777	ENST00000265944	T	0.74842	-0.88	5.49	5.49	0.81192	Myosin head, motor domain (1);	0.149412	0.43260	D	0.000592	T	0.73281	0.3567	L	0.56769	1.78	0.80722	D	1	D	0.63046	0.992	P	0.46659	0.523	T	0.70769	-0.4782	10	0.24483	T	0.36	.	14.5571	0.68109	0.0:0.0:0.8537:0.1463	.	1052	Q8NEV4	MYO3A_HUMAN	Q	1052	ENSP00000265944:R1052Q	ENSP00000265944:R1052Q	R	+	2	0	MYO3A	26497690	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.313000	0.72844	2.718000	0.92993	0.655000	0.94253	CGA		0.348	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26465719	26465719	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:26465719T>C	ENST00000265944.5	+	31	4549	c.4383T>C	c.(4381-4383)ggT>ggC	p.G1461G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1461					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G1461G(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTATCTGGGTGTCTCGCACC	0.363																																					p.G1461G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4383C	10						.						93.0	88.0	89.0					10																	26465719		2203	4300	6503	26505725	SO:0001819	synonymous_variant	53904	exon31			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4383T>C	10.37:g.26465719T>C		Somatic		Capture	Illumina HiSeq	Phase_I	26505725	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ABI1	10006	broad.mit.edu	37	10	27040613	27040613	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:27040613T>G	ENST00000376142.2	-	11	1336	c.1265A>C	c.(1264-1266)gAa>gCa	p.E422A	ABI1_ENST00000346832.5_Missense_Mutation_p.E410A|ABI1_ENST00000376138.3_Missense_Mutation_p.E366A|ABI1_ENST00000376166.1_Missense_Mutation_p.E360A|ABI1_ENST00000355394.4_Missense_Mutation_p.E423A|ABI1_ENST00000536334.1_Missense_Mutation_p.E308A|ABI1_ENST00000490841.2_Missense_Mutation_p.E243A|ABI1_ENST00000376140.3_Missense_Mutation_p.E395A|ABI1_ENST00000376137.4_Missense_Mutation_p.E337A|ABI1_ENST00000376160.1_Missense_Mutation_p.E389A|ABI1_ENST00000376134.3_Missense_Mutation_p.E396A|ABI1_ENST00000376170.4_Missense_Mutation_p.E365A|ABI1_ENST00000359188.4_Missense_Mutation_p.E394A|ABI1_ENST00000376139.2_Missense_Mutation_p.E390A	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	422					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.E422A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCCTCATCTTCATAATCCAC	0.498																																					p.E302A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A905C	10						.						98.0	103.0	102.0					10																	27040613		2203	4300	6503	27080619	SO:0001583	missense	10006	exon7			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1265A>C	10.37:g.27040613T>G	ENSP00000365312:p.Glu422Ala	Somatic		Capture	Illumina HiSeq	Phase_I	27080619	NM_001178124	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393257	0.62066	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42513	1.24;1.24;1.25;1.09;1.07;1.08;1.07;1.16;1.23;0.97;1.23;1.18;1.17;1.07	5.31	5.31	0.75309	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.66939	2.045	0.48696	D	0.999695	P;P;D;D;P;P;B;B;P;P;P;B;P	0.63880	0.956;0.956;0.993;0.974;0.774;0.491;0.293;0.391;0.615;0.619;0.768;0.046;0.682	P;P;D;D;B;B;B;B;B;B;P;B;B	0.68192	0.899;0.899;0.956;0.953;0.271;0.271;0.058;0.209;0.206;0.392;0.46;0.033;0.118	T	0.56129	-0.8030	10	0.21014	T	0.42	-15.5157	15.5394	0.76031	0.0:0.0:0.0:1.0	.	307;336;243;302;232;360;390;394;410;366;390;395;422	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	A	366;365;360;389;422;394;390;423;410;396;337;308;243;395	ENSP00000365308:E366A;ENSP00000365340:E365A;ENSP00000365336:E360A;ENSP00000365330:E389A;ENSP00000365312:E422A;ENSP00000352114:E394A;ENSP00000365309:E390A;ENSP00000347555:E423A;ENSP00000279599:E410A;ENSP00000365304:E396A;ENSP00000365307:E337A;ENSP00000439646:E308A;ENSP00000440101:E243A;ENSP00000365310:E395A	ENSP00000279599:E410A	E	-	2	0	ABI1	27080619	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.997000	0.88414	2.132000	0.65825	0.533000	0.62120	GAA		0.498	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	
ANKRD26	22852	broad.mit.edu	37	10	27303444	27303444	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:27303444G>T	ENST00000376087.4	-	31	4868	c.4703C>A	c.(4702-4704)tCt>tAt	p.S1568Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.S1584Y|ANKRD26_ENST00000376070.3_Missense_Mutation_p.S1125Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1567					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.S1568Y(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTTGACAAAGATTTTCTAAC	0.279																																					p.S1568Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4703A	10						.						40.0	38.0	39.0					10																	27303444		1781	4043	5824	27343450	SO:0001583	missense	22852	exon31			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4703C>A	10.37:g.27303444G>T	ENSP00000365255:p.Ser1568Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27343450	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291383	0.23564	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.44881	0.91;0.91;0.91	5.12	3.26	0.37387	.	.	.	.	.	T	0.65091	0.2658	M	0.87547	2.89	0.09310	N	0.999999	D;D;D	0.65815	0.99;0.992;0.995	D;D;D	0.66847	0.912;0.947;0.913	T	0.55915	-0.8065	9	0.87932	D	0	.	9.3429	0.38091	0.1773:0.0:0.8227:0.0	.	1568;1567;1584	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	1125;1568;1584	ENSP00000365238:S1125Y;ENSP00000365255:S1568Y;ENSP00000405112:S1584Y	ENSP00000365238:S1125Y	S	-	2	0	ANKRD26	27343450	0.293000	0.24371	0.001000	0.08648	0.050000	0.14768	2.070000	0.41491	0.565000	0.29255	0.313000	0.20887	TCT		0.279	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	broad.mit.edu	37	10	27323867	27323867	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:27323867A>C	ENST00000376087.4	-	24	3677	c.3512T>G	c.(3511-3513)tTt>tGt	p.F1171C	ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187C|ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1170					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.F1171C(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATAGCATGAAACTGGTCTTG	0.363																																					p.F1171C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3512G	10						.						209.0	196.0	200.0					10																	27323867		1886	4114	6000	27363873	SO:0001583	missense	22852	exon24			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3512T>G	10.37:g.27323867A>C	ENSP00000365255:p.Phe1171Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27363873	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	9.920	1.211979	0.22289	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15952	2.38;2.38;2.38	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000038	T	0.33206	0.0855	L	0.46567	1.45	0.29882	N	0.825916	B;B;D	0.89917	0.234;0.15;1.0	B;B;D	0.68192	0.087;0.04;0.956	T	0.12785	-1.0534	10	0.42905	T	0.14	.	13.7985	0.63186	1.0:0.0:0.0:0.0	.	1171;1170;1187	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	C	728;1171;1187	ENSP00000365238:F728C;ENSP00000365255:F1171C;ENSP00000405112:F1187C	ENSP00000365238:F728C	F	-	2	0	ANKRD26	27363873	1.000000	0.71417	0.005000	0.12908	0.352000	0.29268	7.937000	0.87672	2.147000	0.66899	0.482000	0.46254	TTT		0.363	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:27499923G>A	ENST00000375888.1	-	9	1115	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Missense_Mutation_p.R342C|ACBD5_ENST00000375897.3_Missense_Mutation_p.R165C|ACBD5_ENST00000375905.4_Missense_Mutation_p.R307C|ACBD5_ENST00000375901.1_Missense_Mutation_p.R233C			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	351					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418																																					p.R342C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1024T	10						.						166.0	161.0	163.0					10																	27499923		2203	4300	6503	27539929	SO:0001583	missense	91452	exon9			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1051C>T	10.37:g.27499923G>A	ENSP00000365049:p.Arg351Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27539929	NM_145698	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37		.	.	.	.	.	.	.	.	.	.	G	7.350	0.622747	0.14193	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	D;T;T;T;T	0.84223	-1.82;2.25;1.51;1.51;2.51	5.49	1.56	0.23342	.	1.014580	0.07830	N	0.961245	T	0.64461	0.2600	N	0.02011	-0.69	0.24700	N	0.993265	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.53711	-0.8400	10	0.44086	T	0.13	-1.806	5.5001	0.16825	0.2214:0.0:0.6406:0.138	.	342;165;340;351	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	C	348;342;307;233;165;351	ENSP00000379568:R342C;ENSP00000365070:R307C;ENSP00000365066:R233C;ENSP00000365062:R165C;ENSP00000365049:R351C	ENSP00000365049:R351C	R	-	1	0	ACBD5	27539929	0.999000	0.42202	0.870000	0.34147	0.056000	0.15407	0.401000	0.20948	0.022000	0.15160	-1.049000	0.02347	CGT		0.418	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698	
PTCHD3	374308	broad.mit.edu	37	10	27702556	27702556	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:27702556G>A	ENST00000438700.3	-	1	741	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	208					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.F208F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCGAGACGAAATTGGCTT	0.632																																					p.F208F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C624T	10						.						52.0	55.0	54.0					10																	27702556		2203	4300	6503	27742562	SO:0001819	synonymous_variant	374308	exon1			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.624C>T	10.37:g.27702556G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27742562	NM_001034842	I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
ARMC4	55130	broad.mit.edu	37	10	28196645	28196645	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:28196645C>A	ENST00000305242.5	-	17	2649	c.2557G>T	c.(2557-2559)Gac>Tac	p.D853Y	ARMC4_ENST00000545014.1_Missense_Mutation_p.D378Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.D545Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	853					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D853Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCCTTCACGTCTGGGTGAGGA	0.433																																					p.D853Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2557T	10						.						121.0	106.0	111.0					10																	28196645		2203	4300	6503	28236651	SO:0001583	missense	55130	exon17			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2557G>T	10.37:g.28196645C>A	ENSP00000306410:p.Asp853Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	28236651	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435148	0.62955	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.94184	-3.37;-3.37;-3.37	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.191003	0.53938	D	0.000042	D	0.92496	0.7617	N	0.22421	0.69	0.80722	D	1	D;D	0.60575	0.966;0.988	P;P	0.53146	0.593;0.719	D	0.93533	0.6871	10	0.72032	D	0.01	-34.4011	19.5529	0.95328	0.0:1.0:0.0:0.0	.	378;853	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	Y	545;853;378	ENSP00000443208:D545Y;ENSP00000306410:D853Y;ENSP00000441076:D378Y	ENSP00000306410:D853Y	D	-	1	0	ARMC4	28236651	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	2.506000	0.45433	2.621000	0.88768	0.655000	0.94253	GAC		0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
WAC	51322	broad.mit.edu	37	10	28899729	28899729	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:28899729G>A	ENST00000354911.4	+	9	1428	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	WAC_ENST00000375646.1_Missense_Mutation_p.A271T|WAC_ENST00000347934.4_Missense_Mutation_p.A320T|WAC_ENST00000375664.4_Missense_Mutation_p.A378T|WAC_ENST00000428935.1_Missense_Mutation_p.A378T	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	423					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.A423T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GATTTCTCAAGCTGCTCAGCT	0.378																																					p.A320T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	10						.						172.0	166.0	168.0					10																	28899729		2203	4300	6503	28939735	SO:0001583	missense	51322	exon8			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1267G>A	10.37:g.28899729G>A	ENSP00000346986:p.Ala423Thr	Somatic		Capture	Illumina HiSeq	Phase_I	28939735	NM_100486	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936229	0.92458	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935	T;T;T;T;T	0.40225	1.6;1.69;1.68;1.59;1.04	5.45	4.55	0.56014	.	0.097976	0.64402	N	0.000001	T	0.50411	0.1614	L	0.27053	0.805	0.50467	D	0.999874	B;D;B;D	0.71674	0.019;0.993;0.011;0.998	B;P;B;D	0.78314	0.013;0.879;0.006;0.991	T	0.50145	-0.8862	10	0.41790	T	0.15	-18.7691	14.5228	0.67863	0.0707:0.0:0.9293:0.0	.	378;320;423;378	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	T	378;271;320;423;378	ENSP00000364816:A378T;ENSP00000364797:A271T;ENSP00000311106:A320T;ENSP00000346986:A423T;ENSP00000399706:A378T	ENSP00000311106:A320T	A	+	1	0	WAC	28939735	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.604000	0.82830	1.439000	0.47511	-0.262000	0.10625	GCT		0.378	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
KIAA1462	57608	broad.mit.edu	37	10	30315458	30315458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:30315458C>A	ENST00000375377.1	-	3	3720	c.3619G>T	c.(3619-3621)Gaa>Taa	p.E1207*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1207					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.E1207*(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGTTTTGTTTCCACATCCTTT	0.502																																					p.E1207X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3619T	10						.						155.0	149.0	151.0					10																	30315458		1884	4136	6020	30355464	SO:0001587	stop_gained	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3619G>T	10.37:g.30315458C>A	ENSP00000364526:p.Glu1207*	Somatic		Capture	Illumina HiSeq	Phase_I	30355464	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852164	0.98525	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.06	2.69	0.31865	.	1.894310	0.02019	N	0.047630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-0.9328	4.2556	0.10715	0.1491:0.5926:0.1453:0.1131	.	.	.	.	X	1207	.	ENSP00000364526:E1207X	E	-	1	0	KIAA1462	30355464	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.641000	0.24720	1.192000	0.43071	0.655000	0.94253	GAA		0.502	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
KIAA1462	57608	broad.mit.edu	37	10	30317186	30317186	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:30317186C>T	ENST00000375377.1	-	3	1992	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	631					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.D631N(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCTCCAGGTCGGTGGAAGAC	0.498																																					p.D631N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1891A	10						.						103.0	99.0	101.0					10																	30317186		1939	4144	6083	30357192	SO:0001583	missense	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1891G>A	10.37:g.30317186C>T	ENSP00000364526:p.Asp631Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30357192	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503897	0.85176	.	.	ENSG00000165757	ENST00000375377	T	0.30182	1.54	5.62	5.62	0.85841	.	0.098806	0.64402	D	0.000002	T	0.58221	0.2107	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59600	-0.7424	10	0.72032	D	0.01	-41.3215	19.6415	0.95760	0.0:1.0:0.0:0.0	.	631	Q9P266	K1462_HUMAN	N	631	ENSP00000364526:D631N	ENSP00000364526:D631N	D	-	1	0	KIAA1462	30357192	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.115000	0.77110	2.651000	0.90000	0.561000	0.74099	GAC		0.498	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
MTPAP	55149	broad.mit.edu	37	10	30602650	30602650	+	Missense_Mutation	SNP	C	C	T	rs17855116	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:30602650C>T	ENST00000263063.4	-	9	1680	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	MTPAP_ENST00000358107.4_Missense_Mutation_p.S676N|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	546			S -> N (in dbSNP:rs17855116). {ECO:0000269|PubMed:15489334}.		cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.S676N(1)|p.S546N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAACTTATTGCTTTTCTTCTT	0.388													C|||	4	0.000798722	0.0	0.0	5008	,	,		20047	0.0		0.004	False		,,,				2504	0.0				p.S546N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1637A	10						.	C	ASN/SER	0,4406		0,0,2203	170.0	161.0	164.0		1637	-2.2	0.0	10	dbSNP_123	164	20,8580	14.0+/-48.4	0,20,4280	yes	missense	MTPAP	NM_018109.3	46	0,20,6483	TT,TC,CC		0.2326,0.0,0.1538	benign	546/583	30602650	20,12986	2203	4300	6503	30642656	SO:0001583	missense	55149	exon9			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1637G>A	10.37:g.30602650C>T	ENSP00000263063:p.Ser546Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30642656	NM_018109	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	CCDS7165.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	0.516	-0.864449	0.02590	0.0	0.002326	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.29655	2.26;1.56	5.77	-2.24	0.06909	.	0.772349	0.10620	N	0.653463	T	0.11580	0.0282	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.0	B;B	0.06405	0.002;0.0	T	0.32693	-0.9897	10	0.15499	T	0.54	0.2893	8.1966	0.31400	0.1053:0.3001:0.0:0.5945	rs17855116	676;546	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	N	676;546	ENSP00000350820:S676N;ENSP00000263063:S546N	ENSP00000263063:S546N	S	-	2	0	MTPAP	30642656	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.025000	0.12413	-0.831000	0.04256	-0.961000	0.02630	AGC		0.388	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	
MTPAP	55149	broad.mit.edu	37	10	30602779	30602779	+	Missense_Mutation	SNP	C	C	T	rs570052537		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:30602779C>T	ENST00000263063.4	-	9	1551	c.1508G>A	c.(1507-1509)cGa>cAa	p.R503Q	MTPAP_ENST00000358107.4_Missense_Mutation_p.R633Q|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	503					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.R503Q(2)|p.R633Q(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGCACTTTCTCGGGCCAAATC	0.428																																					p.R503Q												.	.	4	Substitution - Missense(4)	urinary_tract(2)|large_intestine(2)	c.G1508A	10						.						98.0	96.0	97.0					10																	30602779		2203	4300	6503	30642785	SO:0001583	missense	55149	exon9			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1508G>A	10.37:g.30602779C>T	ENSP00000263063:p.Arg503Gln	Somatic		Capture	Illumina HiSeq	Phase_I	30642785	NM_018109	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261366	0.39995	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.56941	0.43;0.43	5.76	3.92	0.45320	.	0.155507	0.56097	N	0.000028	T	0.40886	0.1135	L	0.31371	0.925	0.32584	N	0.528042	B;B	0.30179	0.271;0.007	B;B	0.20384	0.029;0.015	T	0.44375	-0.9332	10	0.35671	T	0.21	-20.4055	17.3515	0.87326	0.0:0.933:0.0:0.067	.	633;503	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	Q	633;503	ENSP00000350820:R633Q;ENSP00000263063:R503Q	ENSP00000263063:R503Q	R	-	2	0	MTPAP	30642785	1.000000	0.71417	0.999000	0.59377	0.585000	0.36419	2.941000	0.49011	0.789000	0.33779	-0.940000	0.02684	CGA		0.428	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	
ZNF438	220929	broad.mit.edu	37	10	31138255	31138255	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:31138255G>A	ENST00000361310.3	-	6	1408	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000413025.1_Missense_Mutation_p.A360V|ZNF438_ENST00000442986.1_Missense_Mutation_p.A360V|ZNF438_ENST00000444692.2_Missense_Mutation_p.A350V|ZNF438_ENST00000538351.2_Missense_Mutation_p.A311V|ZNF438_ENST00000436087.2_Missense_Mutation_p.A360V|ZNF438_ENST00000331737.6_Missense_Mutation_p.A350V|ZNF438_ENST00000452305.1_Missense_Mutation_p.A350V			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	360					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGGACAAAAGGCACTTTCACA	0.463																																					p.A350V												.	.	0			c.C1049T	10						.						106.0	98.0	101.0					10																	31138255		2203	4300	6503	31178261	SO:0001583	missense	220929	exon7			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1079C>T	10.37:g.31138255G>A	ENSP00000354663:p.Ala360Val	None		Capture	Illumina HiSeq	Phase_I	31178261	NM_001143771	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604821	0.87157	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.43	4.51	0.55191	.	0.603639	0.18348	N	0.143972	T	0.34106	0.0886	M	0.72118	2.19	0.26673	N	0.971685	D;D	0.69078	0.997;0.979	P;P	0.61874	0.895;0.675	T	0.15407	-1.0438	10	0.72032	D	0.01	-13.7871	14.4664	0.67488	0.0:0.0:0.8517:0.1482	.	360;350	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	V	350;360;360;360;360;350;350;311	ENSP00000333571:A350V;ENSP00000354663:A360V;ENSP00000406934:A360V;ENSP00000412363:A360V;ENSP00000387546:A360V;ENSP00000413060:A350V;ENSP00000410898:A350V;ENSP00000445461:A311V	ENSP00000333571:A350V	A	-	2	0	ZNF438	31178261	0.999000	0.42202	0.075000	0.20258	0.315000	0.28087	4.533000	0.60615	1.237000	0.43756	0.650000	0.86243	GCC		0.463	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755	
ZEB1	6935	broad.mit.edu	37	10	31809698	31809698	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:31809698C>A	ENST00000320985.10	+	7	1545	c.1435C>A	c.(1435-1437)Ctt>Att	p.L479I	ZEB1_ENST00000446923.2_Missense_Mutation_p.L463I|ZEB1_ENST00000542815.3_Missense_Mutation_p.L412I|ZEB1_ENST00000361642.5_Missense_Mutation_p.L480I|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.L459I			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	479					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L479I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAACTACAGTCTTGAGCAGCC	0.378																																					p.L459I	Ovarian(40;423 959 14296 36701 49589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375A	10						.						65.0	66.0	65.0					10																	31809698		2203	4300	6503	31849704	SO:0001583	missense	6935	exon6			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1435C>A	10.37:g.31809698C>A	ENSP00000319248:p.Leu479Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31849704	NM_001174093	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920059	0.52653	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	D;D;D;D;T;D	0.83335	-1.71;-1.71;-1.71;-1.71;3.07;-1.71	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000085	D	0.87063	0.6084	L	0.57536	1.79	0.48185	D	0.999604	P;D;P;D;D;P;D;D	0.76494	0.867;0.999;0.816;0.998;0.998;0.876;0.998;0.998	P;D;B;D;D;B;D;D	0.85130	0.55;0.997;0.432;0.994;0.994;0.348;0.994;0.994	D	0.85244	0.1040	10	0.38643	T	0.18	-11.9993	7.4164	0.27047	0.0:0.7998:0.0:0.2002	.	412;479;463;479;479;459;480;479	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	I	261;479;480;479;412;479;459;338;370;463	ENSP00000444282:L261I;ENSP00000354487:L480I;ENSP00000444891:L412I;ENSP00000319248:L479I;ENSP00000405958:L459I;ENSP00000391612:L463I	ENSP00000319248:L479I	L	+	1	0	ZEB1	31849704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.318000	0.43779	2.725000	0.93324	0.655000	0.94253	CTT		0.378	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
KIF5B	3799	broad.mit.edu	37	10	32322808	32322808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:32322808C>A	ENST00000302418.4	-	12	1727	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	424					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E424*(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTAGCAATTTCTTCTTCACAC	0.328			T	"""RET, ALK"""	NSCLC																																p.E424X			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1270T	10						.						173.0	165.0	167.0					10																	32322808		2203	4300	6503	32362814	SO:0001587	stop_gained	3799	exon12			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1270G>T	10.37:g.32322808C>A	ENSP00000307078:p.Glu424*	Somatic		Capture	Illumina HiSeq	Phase_I	32362814	NM_004521	A0AVB2|Q5VZ85	Nonsense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	42	9.777025	0.99261	.	.	ENSG00000170759	ENST00000302418	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.9923	0.89172	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000307078:E424X	E	-	1	0	KIF5B	32362814	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.792000	0.85828	2.236000	0.73375	0.460000	0.39030	GAA		0.328	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
CCDC7	79741	broad.mit.edu	37	10	33094001	33094001	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:33094001C>A	ENST00000375028.3	+	9	883	c.813C>A	c.(811-813)ttC>ttA	p.F271L	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Missense_Mutation_p.F331L			Q9H943	CJ068_HUMAN		295								p.F295L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATGATGAATTCAAGACACAGT	0.308																																					p.F295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C885A	10						.						89.0	101.0	97.0					10																	33094001		2201	4298	6499	33134007	SO:0001583	missense	79741	exon11																														ENST00000375028.3:c.813C>A	10.37:g.33094001C>A	ENSP00000364168:p.Phe271Leu	Somatic		Capture	Illumina HiSeq	Phase_I	33134007	NM_024688	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375028.3	37		.	.	.	.	.	.	.	.	.	.	.	10.52	1.374537	0.24857	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T	0.28666	1.63;1.62;1.6	2.1	-4.19	0.03835	.	.	.	.	.	T	0.16599	0.0399	L	0.50333	1.59	0.09310	N	1	B;B;B	0.20988	0.05;0.05;0.05	B;B;B	0.20767	0.031;0.031;0.031	T	0.45175	-0.9279	9	0.02654	T	1	.	1.2702	0.02019	0.1458:0.3809:0.1855:0.2878	.	248;295;271	B4DX58;Q9H943;A2A3B4	.;CJ068_HUMAN;.	L	295;271;331;243	ENSP00000303710:F295L;ENSP00000364168:F271L;ENSP00000364165:F331L	ENSP00000303710:F295L	F	+	3	2	C10orf68	33134007	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-1.086000	0.03386	-1.441000	0.01958	0.467000	0.42956	TTC		0.308	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2		
ANKRD30A	91074	broad.mit.edu	37	10	37422941	37422941	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:37422941G>T	ENST00000602533.1	+	5	646	c.547G>T	c.(547-549)Gta>Tta	p.V183L	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V183L|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V183L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	239					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V183L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATATGTGGAGTAACTGCAGA	0.393																																					p.V183L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547T	10						.						301.0	282.0	288.0					10																	37422941		1901	4121	6022	37462947	SO:0001583	missense	91074	exon5			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.547G>T	10.37:g.37422941G>T	ENSP00000473551:p.Val183Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37462947	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.754101	0.00085	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.70399	-0.48;-0.08	1.43	-2.86	0.05717	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.37100	0.0991	N	0.02721	-0.515	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.05194	-1.0900	9	0.23891	T	0.37	.	2.7792	0.05356	0.491:0.0:0.2129:0.2961	.	239	Q9BXX3	AN30A_HUMAN	L	183	ENSP00000354432:V183L;ENSP00000363792:V183L	ENSP00000354432:V183L	V	+	1	0	ANKRD30A	37462947	0.916000	0.31088	0.001000	0.08648	0.011000	0.07611	-0.206000	0.09398	-2.693000	0.00403	-1.364000	0.01208	GTA		0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ZNF248	57209	broad.mit.edu	37	10	38120580	38120580	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:38120580C>A	ENST00000395867.3	-	6	2253	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Missense_Mutation_p.R568I|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	568					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.R568I(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGTGAATTCTCTGATGTTT	0.423																																					p.R568I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1703T	10						.						96.0	91.0	93.0					10																	38120580		2203	4300	6503	38160586	SO:0001583	missense	57209	exon6			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1703G>T	10.37:g.38120580C>A	ENSP00000379208:p.Arg568Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38160586	NM_021045	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098529	0.56183	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.10005	2.92;2.92	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000048	T	0.26484	0.0647	L	0.61387	1.9	0.54753	D	0.999987	D	0.64830	0.994	P	0.59546	0.859	T	0.00899	-1.1522	10	0.87932	D	0	.	15.1139	0.72384	0.0:1.0:0.0:0.0	.	568	Q8NDW4	ZN248_HUMAN	I	568	ENSP00000379208:R568I;ENSP00000349882:R568I	ENSP00000349882:R568I	R	-	2	0	ZNF248	38160586	0.009000	0.17119	1.000000	0.80357	0.945000	0.59286	0.968000	0.29357	2.509000	0.84616	0.650000	0.86243	AGA		0.423	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
ZNF25	219749	broad.mit.edu	37	10	38241961	38241961	+	Missense_Mutation	SNP	G	G	T	rs141731402	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:38241961G>T	ENST00000302609.7	-	6	677	c.465C>A	c.(463-465)ttC>ttA	p.F155L	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	155					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.F155L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATTTTTAGAGAAAGATTTCC	0.368																																					p.F155L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C465A	10						.						146.0	151.0	149.0					10																	38241961		2203	4300	6503	38281967	SO:0001583	missense	219749	exon6			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.465C>A	10.37:g.38241961G>T	ENSP00000302222:p.Phe155Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38281967	NM_145011	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803396	0.31869	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.73258	-0.73	4.84	0.818	0.18778	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.159445	0.30011	N	0.010640	T	0.61426	0.2346	M	0.68317	2.08	0.23396	N	0.997765	B	0.26258	0.145	B	0.26969	0.075	T	0.57242	-0.7845	10	0.72032	D	0.01	-2.7681	3.0702	0.06227	0.3681:0.0:0.4459:0.186	.	155	P17030	ZNF25_HUMAN	L	155;119	ENSP00000302222:F155L	ENSP00000302222:F155L	F	-	3	2	ZNF25	38281967	0.192000	0.23301	0.007000	0.13788	0.756000	0.42949	0.663000	0.25053	0.318000	0.23185	0.644000	0.83932	TTC		0.368	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	
BMS1	9790	broad.mit.edu	37	10	43292259	43292259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:43292259G>T	ENST00000374518.5	+	10	1630	c.1567G>T	c.(1567-1569)Gaa>Taa	p.E523*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	523					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E523*(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAAGCTGATGAAAGCAGTGA	0.507																																					p.E523X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1567T	10						.						117.0	97.0	104.0					10																	43292259		2203	4300	6503	42612265	SO:0001587	stop_gained	9790	exon10			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1567G>T	10.37:g.43292259G>T	ENSP00000363642:p.Glu523*	Somatic		Capture	Illumina HiSeq	Phase_I	42612265	NM_014753	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	37	6.071887	0.97256	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.93	4.03	0.46877	.	0.226585	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.5648	0.61810	0.076:0.0:0.924:0.0	.	.	.	.	X	523	.	ENSP00000363642:E523X	E	+	1	0	BMS1	42612265	1.000000	0.71417	0.974000	0.42286	0.426000	0.31534	5.228000	0.65310	1.226000	0.43582	0.580000	0.79431	GAA		0.507	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
BMS1	9790	broad.mit.edu	37	10	43292365	43292365	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:43292365G>T	ENST00000374518.5	+	10	1736	c.1673G>T	c.(1672-1674)aGt>aTt	p.S558I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	558					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S558I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATTGCCAGAGTGACCGTGTG	0.498																																					p.S558I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1673T	10						.						93.0	81.0	85.0					10																	43292365		2203	4300	6503	42612371	SO:0001583	missense	9790	exon10			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1673G>T	10.37:g.43292365G>T	ENSP00000363642:p.Ser558Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42612371	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	2.189	-0.385743	0.04966	.	.	ENSG00000165733	ENST00000374518	T	0.27104	1.69	4.15	2.24	0.28232	.	1.154260	0.06018	N	0.650753	T	0.16214	0.0390	N	0.22421	0.69	0.09310	N	1	B	0.31054	0.306	B	0.24541	0.054	T	0.25537	-1.0129	10	0.39692	T	0.17	.	5.6605	0.17667	0.1792:0.1626:0.6582:0.0	.	558	Q14692	BMS1_HUMAN	I	558	ENSP00000363642:S558I	ENSP00000363642:S558I	S	+	2	0	BMS1	42612371	0.001000	0.12720	0.002000	0.10522	0.038000	0.13279	0.382000	0.20635	0.500000	0.27991	0.549000	0.68633	AGT		0.498	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
OR13A1	79290	broad.mit.edu	37	10	45799110	45799110	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:45799110T>C	ENST00000553795.1	-	4	1069	c.761A>G	c.(760-762)aAa>aGa	p.K254R	OR13A1_ENST00000374401.2_Missense_Mutation_p.K254R|OR13A1_ENST00000536058.1_Missense_Mutation_p.K254R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K254R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GGAGAAGGCTTTCTGCCTCCC	0.557																																					p.K254R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A761G	10						.						96.0	94.0	95.0					10																	45799110		2203	4300	6503	45119116	SO:0001583	missense	79290	exon4			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.761A>G	10.37:g.45799110T>C	ENSP00000451950:p.Lys254Arg	Somatic		Capture	Illumina HiSeq	Phase_I	45119116	NM_001004297	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	t	10.49	1.365734	0.24684	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00360	7.86;7.86;7.86	5.78	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.155379	0.30168	N	0.010251	T	0.00271	0.0008	L	0.47190	1.495	0.26687	N	0.971435	B	0.20052	0.041	B	0.33339	0.162	T	0.32079	-0.9920	10	0.66056	D	0.02	-19.4775	7.4729	0.27359	0.0:0.3145:0.0:0.6855	.	254	Q8NGR1	O13A1_HUMAN	R	254	ENSP00000451950:K254R;ENSP00000438657:K254R;ENSP00000363522:K254R	ENSP00000311379:K254R	K	-	2	0	OR13A1	45119116	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	1.507000	0.35758	0.446000	0.26666	-0.296000	0.09543	AAA		0.557	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297	
ALOX5	240	broad.mit.edu	37	10	45919533	45919533	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:45919533C>A	ENST00000374391.2	+	5	652	c.599C>A	c.(598-600)tCt>tAt	p.S200Y	ALOX5_ENST00000542434.1_Missense_Mutation_p.S200Y	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	200	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.S200Y(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	ATGTTCCAGTCTTCTTGGAAT	0.527																																					p.S200Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C599A	10						.						332.0	309.0	316.0					10																	45919533		2203	4300	6503	45239539	SO:0001583	missense	240	exon5			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.599C>A	10.37:g.45919533C>A	ENSP00000363512:p.Ser200Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	45239539	NM_000698	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472556	0.63737	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.77877	-1.13;-1.13	5.27	4.36	0.52297	Lipoxygenase, C-terminal (3);	0.201195	0.44097	D	0.000491	D	0.84316	0.5445	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;P	0.91635	0.976;0.999;0.874	D	0.85536	0.1212	10	0.72032	D	0.01	-22.3233	13.7562	0.62937	0.0:0.8448:0.1551:0.0	.	200;200;200	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	Y	200	ENSP00000437634:S200Y;ENSP00000363512:S200Y	ENSP00000363512:S200Y	S	+	2	0	ALOX5	45239539	1.000000	0.71417	0.929000	0.37066	0.680000	0.39746	7.800000	0.85949	1.213000	0.43380	-0.172000	0.13284	TCT		0.527	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
FAM21C	253725	broad.mit.edu	37	10	46238931	46238931	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:46238931G>A	ENST00000336378.4	+	6	740	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FAM21C_ENST00000537517.1_Splice_Site_p.E208K|FAM21C_ENST00000359860.4_Splice_Site_p.E152K|FAM21C_ENST00000540872.1_Splice_Site_p.E208K|FAM21C_ENST00000374362.2_Splice_Site_p.E208K	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	208	Glu-rich.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.E207K(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GTCCAGTGAAGGTACTTTTCT	0.308																																					p.E208K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	10						.						139.0	121.0	127.0					10																	46238931		1796	4067	5863	45558937	SO:0001630	splice_region_variant	253725	exon6				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.622+1G>A	10.37:g.46238931G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45558937	NM_001169106	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.303180	0.81136	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848;ENST00000436993	.	.	.	3.69	3.69	0.42338	.	0.045321	0.85682	D	0.000000	T	0.76976	0.4063	M	0.80616	2.505	0.80722	D	1	P;D;D;D	0.65815	0.925;0.995;0.995;0.977	P;D;D;P	0.68192	0.54;0.956;0.956;0.883	T	0.77552	-0.2545	9	0.36615	T	0.2	-22.9623	13.2917	0.60274	0.0:0.0:1.0:0.0	.	208;208;208;153	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	K	208;208;208;208;208;152;153;120	.	ENSP00000337541:E208K	E	+	1	0	FAM21C	45558937	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	8.951000	0.93025	2.052000	0.61016	0.557000	0.71058	GAA		0.308	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Missense_Mutation
ARHGAP22	58504	broad.mit.edu	37	10	49654593	49654593	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:49654593C>A	ENST00000249601.4	-	10	2234	c.1938G>T	c.(1936-1938)aaG>aaT	p.K646N	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.K537N|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.K556N|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.K487N|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.K479N|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.K662N|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.K652N	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	646					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.K646N(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTATTTTTTCTTTTCCTGGT	0.488																																					p.K646N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1938T	10						.						155.0	142.0	146.0					10																	49654593		2203	4300	6503	49324599	SO:0001583	missense	58504	exon10			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1938G>T	10.37:g.49654593C>A	ENSP00000249601:p.Lys646Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49324599	NM_021226	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953826	0.53293	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	4.42	4.42	0.53409	.	0.227351	0.43110	D	0.000616	T	0.65709	0.2717	M	0.69823	2.125	0.36128	D	0.845958	P;P;P;P;P;D	0.56035	0.808;0.682;0.634;0.682;0.787;0.974	B;B;B;B;P;P	0.53861	0.348;0.261;0.295;0.261;0.447;0.736	T	0.75654	-0.3243	10	0.72032	D	0.01	.	9.7676	0.40570	0.0:0.8912:0.0:0.1088	.	652;646;662;646;556;479	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	N	646;537;487;479;556;652;662	ENSP00000249601:K646N;ENSP00000363287:K537N;ENSP00000363285:K487N;ENSP00000422868:K479N;ENSP00000410054:K556N;ENSP00000416701:K652N;ENSP00000412461:K662N	ENSP00000249601:K646N	K	-	3	2	ARHGAP22	49324599	1.000000	0.71417	0.138000	0.22173	0.880000	0.50808	4.738000	0.62073	2.010000	0.58986	0.561000	0.74099	AAG		0.488	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
LRRC18	474354	broad.mit.edu	37	10	50121566	50121566	+	Missense_Mutation	SNP	C	C	A	rs532434669		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:50121566C>A	ENST00000374160.3	-	1	711	c.635G>T	c.(634-636)aGa>aTa	p.R212I	LRRC18_ENST00000298124.3_Missense_Mutation_p.R212I|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	212						cytoplasm (GO:0005737)		p.R212I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTGGCATTTTCTCAGGCAAGC	0.488																																					p.R212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635T	10						.						155.0	159.0	158.0					10																	50121566		2203	4300	6503	49791572	SO:0001583	missense	474354	exon1			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.635G>T	10.37:g.50121566C>A	ENSP00000363275:p.Arg212Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49791572	NM_001006939	Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663105	0.29515	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.59224	0.47;0.28	5.87	-1.48	0.08745	.	0.763485	0.13262	N	0.401217	T	0.41949	0.1181	L	0.41492	1.28	0.20403	N	0.999905	P	0.38642	0.641	B	0.32864	0.154	T	0.22347	-1.0219	9	.	.	.	.	12.3027	0.54884	0.0:0.4765:0.0:0.5235	.	212	Q8N456	LRC18_HUMAN	I	212	ENSP00000363275:R212I;ENSP00000298124:R212I	.	R	-	2	0	LRRC18	49791572	0.000000	0.05858	0.696000	0.30242	0.604000	0.37047	-1.565000	0.02150	-0.081000	0.12662	-0.140000	0.14226	AGA		0.488	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939	
DRGX	644168	broad.mit.edu	37	10	50598268	50598268	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:50598268C>T	ENST00000374139.2	-	3	155	c.145G>A	c.(145-147)Gag>Aag	p.E49K	DRGX_ENST00000434016.1_Missense_Mutation_p.E54K			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	49					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E54K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						AAAACGGCCTCGAGAGCTTCC	0.473																																					p.E54K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160A	10						.						66.0	63.0	64.0					10																	50598268		1892	4113	6005	50268274	SO:0001583	missense	644168	exon3				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.145G>A	10.37:g.50598268C>T	ENSP00000363254:p.Glu49Lys	Somatic		Capture	Illumina HiSeq	Phase_I	50268274	NM_001080520		Missense_Mutation	SNP	ENST00000374139.2	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.052372	0.75960	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.97575	-4.44;-4.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99327	1.0908	10	0.87932	D	0	.	19.6204	0.95653	0.0:1.0:0.0:0.0	.	54	C9JW76	.	K	49;54	ENSP00000363254:E49K;ENSP00000401653:E54K	ENSP00000363254:E49K	E	-	1	0	DRGX	50268274	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	7.487000	0.81328	2.636000	0.89361	0.655000	0.94253	GAG		0.473	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970	
ERCC6	2074	broad.mit.edu	37	10	50679126	50679126	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:50679126C>A	ENST00000355832.5	-	17	3043	c.2965G>T	c.(2965-2967)Gac>Tac	p.D989Y	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.D359Y|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	989	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.D989Y(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTTTGGGTCTTTTAGCACT	0.343								Direct reversal of damage;Nucleotide excision repair (NER)																													p.D989Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2965T	10						.						178.0	194.0	188.0					10																	50679126		2203	4300	6503	50349132	SO:0001583	missense	2074	exon17			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2965G>T	10.37:g.50679126C>A	ENSP00000348089:p.Asp989Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	50349132	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030472	0.93575	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.76709	-1.04;-1.04	5.8	5.8	0.92144	Helicase, C-terminal (1);	.	.	.	.	D	0.92031	0.7475	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93479	0.6826	9	0.87932	D	0	-34.9819	20.063	0.97692	0.0:1.0:0.0:0.0	.	989;366	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	989;366;359	ENSP00000348089:D989Y;ENSP00000445134:D359Y	ENSP00000348089:D989Y	D	-	1	0	ERCC6	50349132	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	GAC		0.343	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PGBD3	267004	broad.mit.edu	37	10	50725153	50725153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:50725153C>T	ENST00000374127.3	-	2	209	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	PGBD3_ENST00000508005.2_Missense_Mutation_p.R3Q|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R471Q|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R471Q|PGBD3_ENST00000603152.1_Missense_Mutation_p.R471Q	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	3										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTTAGTGTTCGAGGCATCTT	0.388																																					p.R3Q												.	.	0			c.G8A	10						.						88.0	90.0	89.0					10																	50725153		2202	4299	6501	50395159	SO:0001583	missense	267004	exon2			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.8G>A	10.37:g.50725153C>T	ENSP00000363242:p.Arg3Gln	None		Capture	Illumina HiSeq	Phase_I	50395159	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961707	0.53400	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.15834	2.39;2.39;3.3;3.3	0.468	0.468	0.16732	.	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.20926	N	0.999825	P;B	0.44241	0.829;0.013	B;B	0.36989	0.238;0.001	T	0.31052	-0.9957	8	0.25106	T	0.35	-10.4804	.	.	.	.	471;3	E7EV46;Q8N328	.;PGBD3_HUMAN	Q	3;3;471;471	ENSP00000363242:R3Q;ENSP00000426963:R3Q;ENSP00000423550:R471Q;ENSP00000387966:R471Q	ENSP00000387966:R471Q	R	-	2	0	PGBD3;RP11-123B3.6	50395159	0.174000	0.23070	0.934000	0.37439	0.930000	0.56654	0.180000	0.16860	0.488000	0.27723	0.491000	0.48974	CGA		0.388	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
A1CF	29974	broad.mit.edu	37	10	52566514	52566514	+	Missense_Mutation	SNP	C	C	T	rs530902814		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:52566514C>T	ENST00000373993.1	-	11	1804	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	A1CF_ENST00000374001.2_Missense_Mutation_p.R579Q|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Missense_Mutation_p.R580Q|A1CF_ENST00000282641.2_Missense_Mutation_p.R587Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R579Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R587Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R532Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	587					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R587Q(2)|p.R579Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCCATCCCCTCGGGCAGTCAC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16570	0.0		0.0	False		,,,				2504	0.0				p.R579Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G1736A	10						.						109.0	102.0	104.0					10																	52566514		2203	4300	6503	52236520	SO:0001583	missense	29974	exon14			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1760G>A	10.37:g.52566514C>T	ENSP00000363105:p.Arg587Gln	Somatic		Capture	Illumina HiSeq	Phase_I	52236520	NM_001198818	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966959	0.92855	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.23348	2.31;2.3;2.31;2.25;2.3;1.91;2.29	5.74	4.84	0.62591	.	0.067440	0.64402	D	0.000012	T	0.38026	0.1025	L	0.29908	0.895	0.52501	D	0.999956	D;D;B;D	0.76494	0.999;0.997;0.002;0.998	D;D;B;P	0.77557	0.99;0.968;0.002;0.852	T	0.23226	-1.0194	10	0.72032	D	0.01	-3.1442	12.8299	0.57740	0.0:0.9208:0.0:0.0792	.	580;587;579;587	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	Q	579;587;579;587;587;532;562;580	ENSP00000363113:R579Q;ENSP00000363105:R587Q;ENSP00000363109:R579Q;ENSP00000363107:R587Q;ENSP00000282641:R587Q;ENSP00000378873:R532Q;ENSP00000378868:R580Q	ENSP00000282641:R587Q	R	-	2	0	A1CF	52236520	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.433000	0.59929	1.436000	0.47453	0.650000	0.86243	CGA		0.418	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
A1CF	29974	broad.mit.edu	37	10	52580383	52580383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:52580383G>A	ENST00000373993.1	-	6	840	c.796C>T	c.(796-798)Cga>Tga	p.R266*	A1CF_ENST00000374001.2_Nonsense_Mutation_p.R266*|RP11-449O16.2_ENST00000438919.1_RNA|A1CF_ENST00000395489.2_Nonsense_Mutation_p.R259*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R266*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R266*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R274*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R211*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	266	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R274*(2)|p.R266*(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCATAGTCTCGAATTTTCTTC	0.378																																					p.R266X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C796T	10						.						124.0	113.0	117.0					10																	52580383		2203	4300	6503	52250389	SO:0001587	stop_gained	29974	exon9			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.796C>T	10.37:g.52580383G>A	ENSP00000363105:p.Arg266*	Somatic		Capture	Illumina HiSeq	Phase_I	52250389	NM_001198818	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	37	6.179060	0.97352	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	5.8	2.73	0.32206	.	0.050677	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3845	0.55325	0.0:0.0:0.4296:0.5704	.	.	.	.	X	266;266;266;274;266;211;249;259	.	ENSP00000282641:R266X	R	-	1	2	A1CF	52250389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.486000	0.35530	0.760000	0.33108	0.655000	0.94253	CGA		0.378	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PCDH15	65217	broad.mit.edu	37	10	55582818	55582818	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:55582818T>C	ENST00000320301.6	-	33	5062	c.4668A>G	c.(4666-4668)atA>atG	p.I1556M	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1487M|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1516M|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1553M|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1558M|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1533M	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1556					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.I1556M(1)|p.I1563M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTGGCTTGTATTTTGGGTG	0.428										HNSCC(58;0.16)																											p.I1516M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4548G	10						.						84.0	88.0	87.0					10																	55582818		2203	4299	6502	55252824	SO:0001583	missense	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4668A>G	10.37:g.55582818T>C	ENSP00000322604:p.Ile1556Met	Somatic		Capture	Illumina HiSeq	Phase_I	55252824	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	4.539	0.100014	0.08681	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56611	0.48;0.45;0.49;0.46;0.46;0.48	5.81	0.0693	0.14373	.	.	.	.	.	T	0.25121	0.0610	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.31193	0.312;0.003;0.003;0.003;0.007;0.003;0.004;0.003	B;B;B;B;B;B;B;B	0.35859	0.212;0.011;0.011;0.011;0.011;0.011;0.007;0.011	T	0.25363	-1.0134	9	0.31617	T	0.26	.	5.5343	0.17003	0.0:0.2453:0.2528:0.5019	.	1533;1556;1558;1563;1487;1516;1553;1556	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	M	1516;1558;1533;1556;1553;1563;1487	ENSP00000378820:I1516M;ENSP00000354950:I1558M;ENSP00000378821:I1533M;ENSP00000322604:I1556M;ENSP00000378818:I1553M;ENSP00000412628:I1487M	ENSP00000322604:I1556M	I	-	3	3	PCDH15	55252824	0.894000	0.30519	0.009000	0.14445	0.194000	0.23727	-0.064000	0.11636	0.081000	0.16988	0.528000	0.53228	ATA		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55782812	55782812	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:55782812A>C	ENST00000320301.6	-	19	2760	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G	PCDH15_ENST00000409834.1_Missense_Mutation_p.V400G|PCDH15_ENST00000373955.1_Missense_Mutation_p.V789G|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V718G|PCDH15_ENST00000395445.1_Missense_Mutation_p.V796G|PCDH15_ENST00000395432.2_Missense_Mutation_p.V752G|PCDH15_ENST00000395438.1_Missense_Mutation_p.V789G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V789G|PCDH15_ENST00000414778.1_Missense_Mutation_p.V794G|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V789G|PCDH15_ENST00000373965.2_Missense_Mutation_p.V796G|PCDH15_ENST00000395433.1_Missense_Mutation_p.V767G	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	789	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V794G(1)|p.V789G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTTGCCACAACAACAAGTTC	0.413										HNSCC(58;0.16)																											p.V752G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2255G	10						.						191.0	176.0	181.0					10																	55782812		2203	4300	6503	55452818	SO:0001583	missense	65217	exon18			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2366T>G	10.37:g.55782812A>C	ENSP00000322604:p.Val789Gly	Somatic		Capture	Illumina HiSeq	Phase_I	55452818	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557388	0.86231	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89269	0.6667	H	0.96015	3.755	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.994;1.0;1.0;1.0;1.0;0.999;1.0	D	0.92521	0.6025	9	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	767;789;789;794;718;752;789;789;796;796;789;794;789;789	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	G	796;794;789;789;400;796;752;789;767;789;789;794;718;789	ENSP00000363076:V796G;ENSP00000410304:V794G;ENSP00000378826:V789G;ENSP00000386693:V400G;ENSP00000378832:V796G;ENSP00000378820:V752G;ENSP00000354950:V789G;ENSP00000378821:V767G;ENSP00000322604:V789G;ENSP00000378818:V789G;ENSP00000412628:V718G;ENSP00000363066:V789G	ENSP00000322604:V789G	V	-	2	0	PCDH15	55452818	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.323000	0.78572	0.528000	0.53228	GTT		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
ZWINT	11130	broad.mit.edu	37	10	58118633	58118633	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:58118633C>A	ENST00000373944.3	-	6	594	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	ZWINT_ENST00000395405.1_Missense_Mutation_p.D186Y|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.D66Y|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	186					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AACACCCTGTCAAGCTCCTGC	0.547																																					p.D186Y												.	.	0			c.G556T	10						.						122.0	120.0	121.0					10																	58118633		2203	4300	6503	57788639	SO:0001583	missense	11130	exon6			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.556G>T	10.37:g.58118633C>A	ENSP00000363055:p.Asp186Tyr	None		Capture	Illumina HiSeq	Phase_I	57788639	NM_007057	A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	6.988	0.552471	0.13374	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387	T;T;T	0.46063	0.88;0.88;0.88	4.48	2.59	0.31030	.	0.608001	0.14692	N	0.304083	T	0.33440	0.0863	N	0.14661	0.345	0.19300	N	0.999977	P	0.47191	0.891	P	0.48141	0.568	T	0.15896	-1.0421	10	0.87932	D	0	-4.7298	11.1276	0.48328	0.0:0.6385:0.3615:0.0	.	186	O95229	ZWINT_HUMAN	Y	186;186;66	ENSP00000363055:D186Y;ENSP00000378801:D186Y;ENSP00000322850:D66Y	ENSP00000322850:D66Y	D	-	1	0	ZWINT	57788639	0.979000	0.34478	0.633000	0.29310	0.083000	0.17756	0.561000	0.23515	0.797000	0.33971	0.655000	0.94253	GAC		0.547	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1		
IPMK	253430	broad.mit.edu	37	10	59976067	59976067	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:59976067T>G	ENST00000373935.3	-	4	707	c.385A>C	c.(385-387)Aaa>Caa	p.K129Q		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	129					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.K129Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCTTCCAGTTTTAGGTATAAA	0.313																																					p.K129Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A385C	10						.						49.0	45.0	46.0					10																	59976067		2202	4299	6501	59646073	SO:0001583	missense	253430	exon4			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.385A>C	10.37:g.59976067T>G	ENSP00000363046:p.Lys129Gln	Somatic		Capture	Illumina HiSeq	Phase_I	59646073	NM_152230		Missense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396402	0.83011	.	.	ENSG00000151151	ENST00000373935	T	0.18174	2.23	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	L	0.45470	1.425	0.50467	D	0.999876	P	0.50710	0.938	P	0.56088	0.791	T	0.00792	-1.1564	9	.	.	.	-1.2199	13.9987	0.64419	0.0:0.0:0.0:1.0	.	129	Q8NFU5	IPMK_HUMAN	Q	129	ENSP00000363046:K129Q	.	K	-	1	0	IPMK	59646073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.931000	0.87625	2.182000	0.69389	0.533000	0.62120	AAA		0.313	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230	
PHYHIPL	84457	broad.mit.edu	37	10	61005134	61005134	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:61005134C>A	ENST00000373880.4	+	5	1178	c.914C>A	c.(913-915)tCt>tAt	p.S305Y	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.S279Y	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	305						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.S305Y(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CAACTAAATTCTAAGGATAAT	0.403																																					p.S279Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C836A	10						.						64.0	63.0	63.0					10																	61005134		2203	4300	6503	60675140	SO:0001583	missense	84457	exon5			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.914C>A	10.37:g.61005134C>A	ENSP00000362987:p.Ser305Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	60675140	NM_001143774	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731296	0.30684	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.31510	1.91;1.49	5.72	5.72	0.89469	.	0.239246	0.32884	N	0.005522	T	0.16727	0.0402	N	0.08118	0	0.80722	D	1	B;B	0.28258	0.205;0.13	B;B	0.31245	0.126;0.036	T	0.07424	-1.0773	10	0.56958	D	0.05	-0.0126	7.4811	0.27406	0.0:0.8027:0.0:0.1973	.	279;305	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	Y	305;279	ENSP00000362987:S305Y;ENSP00000362985:S279Y	ENSP00000362985:S279Y	S	+	2	0	PHYHIPL	60675140	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.035000	0.57297	2.685000	0.91497	0.655000	0.94253	TCT		0.403	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439	
FAM13C	220965	broad.mit.edu	37	10	61043169	61043169	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:61043169C>T	ENST00000373868.2	-	6	633	c.546G>A	c.(544-546)gcG>gcA	p.A182A	FAM13C_ENST00000422313.2_Silent_p.A182A|RP11-443O13.3_ENST00000433249.1_RNA|FAM13C_ENST00000277705.6_Silent_p.A203A|FAM13C_ENST00000435852.2_Silent_p.A182A|FAM13C_ENST00000468840.2_Silent_p.A99A|FAM13C_ENST00000373867.3_Silent_p.A99A|FAM13C_ENST00000442566.3_Silent_p.A203A|FAM13C_ENST00000419214.2_Silent_p.A182A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	182								p.A182A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGATGCTGGCGCCGGGTCCT	0.522																																					p.A99A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G297A	10						.						167.0	161.0	163.0					10																	61043169		2203	4300	6503	60713175	SO:0001819	synonymous_variant	220965	exon7			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.546G>A	10.37:g.61043169C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60713175	NM_001143773	B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	CCDS7255.1																																																																																				0.522	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
ANK3	288	broad.mit.edu	37	10	61833737	61833737	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:61833737G>T	ENST00000280772.2	-	37	7093	c.6902C>A	c.(6901-6903)tCt>tAt	p.S2301Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2301					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S2301Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACATCTGGAGACACTGCCGA	0.488																																					p.S2301Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6902A	10						.						111.0	105.0	107.0					10																	61833737		2203	4300	6503	61503743	SO:0001583	missense	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6902C>A	10.37:g.61833737G>T	ENSP00000280772:p.Ser2301Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	61503743	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147780	0.57151	.	.	ENSG00000151150	ENST00000280772	T	0.64991	-0.13	5.94	5.94	0.96194	.	0.580389	0.14380	N	0.323213	T	0.57784	0.2077	L	0.36672	1.1	0.80722	D	1	P	0.39624	0.681	B	0.37833	0.259	T	0.55692	-0.8101	10	0.33940	T	0.23	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	2301	Q12955	ANK3_HUMAN	Y	2301	ENSP00000280772:S2301Y	ENSP00000280772:S2301Y	S	-	2	0	ANK3	61503743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.663000	0.61532	2.816000	0.96949	0.563000	0.77884	TCT		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	broad.mit.edu	37	10	61959955	61959955	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:61959955G>A	ENST00000280772.2	-	13	1614	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C	ANK3_ENST00000373827.2_Missense_Mutation_p.R469C|ANK3_ENST00000503366.1_Missense_Mutation_p.R458C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	475					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R475C(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCCGGAGCGAGCTGCCATG	0.453																																					p.R475C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1423T	10						.						77.0	66.0	70.0					10																	61959955		2203	4300	6503	61629961	SO:0001583	missense	288	exon13			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1423C>T	10.37:g.61959955G>A	ENSP00000280772:p.Arg475Cys	Somatic		Capture	Illumina HiSeq	Phase_I	61629961	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894508	0.72639	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.64618	-0.11;2.34;2.34	5.85	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.000000	0.37304	N	0.002152	T	0.74261	0.3693	L	0.60012	1.86	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.838;0.99;0.932;0.978;0.997	T	0.75772	-0.3200	10	0.87932	D	0	.	12.2432	0.54555	0.0:0.0:0.6737:0.3263	.	458;136;19;469;475	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	C	475;469;458;437;136;136;19	ENSP00000280772:R475C;ENSP00000362933:R469C;ENSP00000425236:R458C	ENSP00000280772:R475C	R	-	1	0	ANK3	61629961	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.850000	0.55918	2.753000	0.94483	0.655000	0.94253	CGC		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
RHOBTB1	9886	broad.mit.edu	37	10	62634791	62634791	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:62634791G>A	ENST00000337910.5	-	9	2073	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.A579V|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	579					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.A579V(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCCTGAACGGCATGCTGTTC	0.537																																					p.A579V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1736T	10						.						80.0	77.0	78.0					10																	62634791		2203	4300	6503	62304797	SO:0001583	missense	9886	exon9			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1736C>T	10.37:g.62634791G>A	ENSP00000338671:p.Ala579Val	Somatic		Capture	Illumina HiSeq	Phase_I	62304797	NM_014836		Missense_Mutation	SNP	ENST00000337910.5	37	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	6.415	0.444669	0.12164	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.155014	0.45126	D	0.000387	T	0.47135	0.1429	N	0.20530	0.585	0.80722	D	1	P	0.35307	0.494	B	0.35899	0.213	T	0.47169	-0.9138	10	0.02654	T	1	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	579	O94844	RHBT1_HUMAN	V	579	ENSP00000350595:A579V;ENSP00000338671:A579V	ENSP00000338671:A579V	A	-	2	0	RHOBTB1	62304797	1.000000	0.71417	0.362000	0.25862	0.117000	0.20001	9.393000	0.97256	2.666000	0.90696	0.563000	0.77884	GCC		0.537	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1		
JMJD1C	221037	broad.mit.edu	37	10	64966729	64966729	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:64966729T>G	ENST00000399262.2	-	10	4918	c.4700A>C	c.(4699-4701)aAa>aCa	p.K1567T	JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1385T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1348T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K1348T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1567					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.K1567T(1)|p.K1348T(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)					ATTTTCCATTTTATTAGTATT	0.358																																					p.K1348T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4043C	10						.						79.0	72.0	74.0					10																	64966729		1802	4071	5873	64636735	SO:0001583	missense	221037	exon7			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.4700A>C	10.37:g.64966729T>G	ENSP00000382204:p.Lys1567Thr	Somatic		Capture	Illumina HiSeq	Phase_I	64636735	NM_004241	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.13|18.13	3.555267|3.555267	0.65425|0.65425	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T|T;T;T;T	0.59364|0.55930	0.27|0.83;0.49;2.39;0.84	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.216483|0.216483	0.48286|0.48286	D|D	0.000189|0.000189	T|T	0.50990|0.50990	0.1648|0.1648	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;B	.|0.32350	.|0.168;0.366;0.168	.|B;B;B	.|0.27170	.|0.045;0.077;0.045	T|T	0.53401|0.53401	-0.8444|-0.8444	8|10	0.29301|0.51188	T|T	0.29|0.08	-19.6858|-19.6858	16.1924|16.1924	0.82000|0.82000	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1108;1567;1385	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	Q|T	253|1567;1348;1348;1385	ENSP00000335929:K253Q|ENSP00000382204:K1567T;ENSP00000384990:K1348T;ENSP00000382195:K1348T;ENSP00000444682:K1385T	ENSP00000335929:K253Q|ENSP00000382195:K1348T	K|K	-|-	1|2	0|0	JMJD1C|JMJD1C	64636735|64636735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.762000|2.762000	0.47597|0.47597	2.287000|2.287000	0.76781|0.76781	0.482000|0.482000	0.46254|0.46254	AAA|AAA		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
CTNNA3	29119	broad.mit.edu	37	10	68040346	68040346	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:68040346G>C	ENST00000433211.2	-	13	1940	c.1766C>G	c.(1765-1767)gCc>gGc	p.A589G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A589G	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.A589G(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGCTTCCAAGGCAACATTCAC	0.318																																					p.A589G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1766G	10						.						112.0	108.0	110.0					10																	68040346		2203	4299	6502	67710352	SO:0001583	missense	29119	exon13			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1766C>G	10.37:g.68040346G>C	ENSP00000389714:p.Ala589Gly	Somatic		Capture	Illumina HiSeq	Phase_I	67710352	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153342	0.78114	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.53857	0.6;0.6	5.63	5.63	0.86233	.	0.000000	0.53938	D	0.000049	T	0.75110	0.3805	M	0.84948	2.725	0.80722	D	1	D	0.56746	0.977	D	0.72338	0.977	T	0.78800	-0.2062	10	0.87932	D	0	-7.1285	15.1938	0.73067	0.0:0.0:1.0:0.0	.	589	Q9UI47	CTNA3_HUMAN	G	589	ENSP00000389714:A589G;ENSP00000362849:A589G	ENSP00000362849:A589G	A	-	2	0	CTNNA3	67710352	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.100000	0.64560	2.665000	0.90641	0.655000	0.94253	GCC		0.318	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
TET1	80312	broad.mit.edu	37	10	70333344	70333344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:70333344G>T	ENST00000373644.4	+	2	1458	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	417					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.E417*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGACCAACAAGAAACTCTTGG	0.483																																					p.E417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1249T	10						.						150.0	148.0	148.0					10																	70333344		2203	4300	6503	70003350	SO:0001587	stop_gained	80312	exon2			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1249G>T	10.37:g.70333344G>T	ENSP00000362748:p.Glu417*	Somatic		Capture	Illumina HiSeq	Phase_I	70003350	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348920	0.82132	.	.	ENSG00000138336	ENST00000373644	.	.	.	3.32	-0.265	0.12946	.	3.523560	0.01187	N	0.007227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	2.1803	0.03873	0.1181:0.373:0.3184:0.1905	.	.	.	.	X	417	.	ENSP00000362748:E417X	E	+	1	0	TET1	70003350	0.000000	0.05858	0.001000	0.08648	0.484000	0.33280	0.307000	0.19296	0.151000	0.19162	0.313000	0.20887	GAA		0.483	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
STOX1	219736	broad.mit.edu	37	10	70646061	70646061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:70646061G>T	ENST00000298596.6	+	3	2592	c.2509G>T	c.(2509-2511)Gaa>Taa	p.E837*	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Nonsense_Mutation_p.E837*|STOX1_ENST00000421961.2_Nonsense_Mutation_p.E727*	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	837						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E837*(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTACGAAGAAGAACCCAGTGT	0.458																																					p.E837X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2509T	10						.						116.0	113.0	114.0					10																	70646061		1876	4113	5989	70316067	SO:0001587	stop_gained	219736	exon3			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2509G>T	10.37:g.70646061G>T	ENSP00000298596:p.Glu837*	Somatic		Capture	Illumina HiSeq	Phase_I	70316067	NM_152709	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Nonsense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002783	0.93287	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	.	.	.	6.17	5.27	0.74061	.	0.581349	0.18823	N	0.130188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.2811	0.54765	0.0646:0.1199:0.8155:0.0	.	.	.	.	X	837;837;727	.	ENSP00000298596:E837X	E	+	1	0	STOX1	70316067	0.001000	0.12720	0.016000	0.15963	0.190000	0.23558	0.780000	0.26760	1.631000	0.50456	0.655000	0.94253	GAA		0.458	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
HKDC1	80201	broad.mit.edu	37	10	71020901	71020901	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:71020901G>T	ENST00000354624.5	+	16	2356	c.2223G>T	c.(2221-2223)gaG>gaT	p.E741D	HKDC1_ENST00000395086.2_Missense_Mutation_p.E741D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	741	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.E741D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGATACGAGAAAATGACCA	0.532																																					p.E741D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2223T	10						.						105.0	84.0	91.0					10																	71020901		2203	4300	6503	70690907	SO:0001583	missense	80201	exon16				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2223G>T	10.37:g.71020901G>T	ENSP00000346643:p.Glu741Asp	Somatic		Capture	Illumina HiSeq	Phase_I	70690907	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572298	0.65765	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.99304	-5.72;-5.72	4.66	3.73	0.42828	Hexokinase, C-terminal (1);	0.051144	0.85682	D	0.000000	D	0.99363	0.9776	M	0.91510	3.215	0.42055	D	0.991136	D	0.65815	0.995	D	0.72338	0.977	D	0.98771	1.0728	10	0.87932	D	0	-32.7992	8.7159	0.34411	0.1918:0.0:0.8082:0.0	.	741	Q2TB90	HKDC1_HUMAN	D	741	ENSP00000346643:E741D;ENSP00000378521:E741D	ENSP00000346643:E741D	E	+	3	2	HKDC1	70690907	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.458000	0.35223	2.407000	0.81776	0.491000	0.48974	GAG		0.532	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
TACR2	6865	broad.mit.edu	37	10	71167028	71167028	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:71167028C>A	ENST00000373306.4	-	4	1293	c.750G>T	c.(748-750)aaG>aaT	p.K250N	TACR2_ENST00000373307.1_Missense_Mutation_p.K38N	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	250					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.K250N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACCATGGTCTTCACAAACT	0.587																																					p.K250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G750T	10						.						152.0	128.0	136.0					10																	71167028		2203	4300	6503	70837034	SO:0001583	missense	6865	exon4				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.750G>T	10.37:g.71167028C>A	ENSP00000362403:p.Lys250Asn	Somatic		Capture	Illumina HiSeq	Phase_I	70837034	NM_001057	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988561	0.74589	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.45276	0.9;0.9	5.11	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.113360	0.64402	D	0.000016	T	0.67711	0.2922	M	0.91196	3.185	0.50171	D	0.999854	D	0.71674	0.998	D	0.68192	0.956	T	0.73408	-0.3992	10	0.87932	D	0	.	10.1293	0.42669	0.0:0.846:0.0:0.154	.	250	P21452	NK2R_HUMAN	N	38;250	ENSP00000362404:K38N;ENSP00000362403:K250N	ENSP00000362403:K250N	K	-	3	2	TACR2	70837034	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.711000	0.47177	1.149000	0.42402	0.555000	0.69702	AAG		0.587	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1		
COL13A1	1305	broad.mit.edu	37	10	71631953	71631953	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:71631953G>T	ENST00000398978.3	+	4	878	c.386G>T	c.(385-387)aGa>aTa	p.R129I	COL13A1_ENST00000398973.3_Missense_Mutation_p.R129I|COL13A1_ENST00000398968.3_Missense_Mutation_p.R129I|COL13A1_ENST00000520133.1_Missense_Mutation_p.R129I|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398964.3_Missense_Mutation_p.R129I|COL13A1_ENST00000522165.1_Missense_Mutation_p.R129I|COL13A1_ENST00000398972.3_Missense_Mutation_p.R129I|COL13A1_ENST00000398974.3_Missense_Mutation_p.R129I|COL13A1_ENST00000517713.1_Missense_Mutation_p.R129I|COL13A1_ENST00000398966.3_Missense_Mutation_p.R129I|COL13A1_ENST00000357811.3_Missense_Mutation_p.R129I|COL13A1_ENST00000354547.3_Missense_Mutation_p.R129I|COL13A1_ENST00000356340.3_Missense_Mutation_p.R129I|COL13A1_ENST00000398971.3_Missense_Mutation_p.R129I|COL13A1_ENST00000520267.1_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.R129I(2)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCCACTGGAAGACCCGGACTC	0.478																																					p.R129I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G386T	10						.						165.0	164.0	164.0					10																	71631953		1920	4131	6051	71301959	SO:0001583	missense	1305	exon4			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.386G>T	10.37:g.71631953G>T	ENSP00000381949:p.Arg129Ile	Somatic		Capture	Illumina HiSeq	Phase_I	71301959	NM_080802		Missense_Mutation	SNP	ENST00000398978.3	37	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639306	0.47153	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93547	-2.95;-2.84;-2.88;-2.92;-3.24;-2.89;-2.77;-2.89;-2.9;-2.85;-2.87;-2.78;-2.84;-3.24	4.93	4.03	0.46877	.	0.085533	0.50627	D	0.000120	D	0.93363	0.7884	L	0.38692	1.165	0.49582	D	0.999804	P;D;P;P;P;P;P;D;P;D;P;D;P;P;P;P;D	0.76494	0.838;0.998;0.899;0.736;0.838;0.838;0.838;0.99;0.838;0.96;0.95;0.999;0.828;0.828;0.899;0.918;0.994	B;D;P;B;B;B;B;D;B;P;P;D;P;P;P;P;D	0.81914	0.282;0.988;0.474;0.282;0.367;0.282;0.282;0.962;0.282;0.827;0.653;0.995;0.474;0.474;0.474;0.609;0.983	D	0.91572	0.5272	10	0.35671	T	0.21	-14.7576	9.105	0.36692	0.0992:0.0:0.9008:0.0	.	129;129;129;129;129;129;129;129;129;129;129;129;129;129;129;129;129	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	129	ENSP00000381946:R129I;ENSP00000381943:R129I;ENSP00000381940:R129I;ENSP00000381938:R129I;ENSP00000381936:R129I;ENSP00000348695:R129I;ENSP00000381944:R129I;ENSP00000381945:R129I;ENSP00000381949:R129I;ENSP00000346553:R129I;ENSP00000350463:R129I;ENSP00000430061:R129I;ENSP00000428342:R129I;ENSP00000430173:R129I	ENSP00000346553:R129I	R	+	2	0	COL13A1	71301959	1.000000	0.71417	0.980000	0.43619	0.971000	0.66376	4.493000	0.60341	1.437000	0.47472	0.655000	0.94253	AGA		0.478	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	
PPA1	5464	broad.mit.edu	37	10	71973273	71973273	+	Missense_Mutation	SNP	C	C	T	rs11538284		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:71973273C>T	ENST00000373232.3	-	6	556	c.457G>A	c.(457-459)Gac>Aac	p.D153N	PPA1_ENST00000608321.1_Missense_Mutation_p.D153N	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	153					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)	p.D153N(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						ACTTTCCAGTCGGTTTCCCCT	0.383																																					p.D153N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G457A	10						.	C	ASN/ASP	0,4406		0,0,2203	95.0	86.0	89.0		457	5.8	1.0	10	dbSNP_120	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPA1	NM_021129.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	153/290	71973273	1,13005	2203	4300	6503	71643279	SO:0001583	missense	5464	exon6			AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.457G>A	10.37:g.71973273C>T	ENSP00000362329:p.Asp153Asn	Somatic		Capture	Illumina HiSeq	Phase_I	71643279	NM_021129	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	37	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777773	0.96929	0.0	1.16E-4	ENSG00000180817	ENST00000373232;ENST00000373230	T;T	0.70869	-0.52;-0.52	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.65233	0.933	D	0.94356	0.7583	10	0.87932	D	0	-4.0609	18.604	0.91259	0.0:1.0:0.0:0.0	rs11538284	153	Q15181	IPYR_HUMAN	N	153	ENSP00000362329:D153N;ENSP00000362327:D153N	ENSP00000362327:D153N	D	-	1	0	PPA1	71643279	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	7.652000	0.83633	2.737000	0.93849	0.585000	0.79938	GAC		0.383	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129	
ADAMTS14	140766	broad.mit.edu	37	10	72489939	72489939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:72489939G>A	ENST00000373207.1	+	6	1036	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.D346N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D346N(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCAGCGCCAGGACCCCAGCCA	0.652																																					p.D346N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	10						.						81.0	70.0	74.0					10																	72489939		2203	4300	6503	72159945	SO:0001583	missense	140766	exon6			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1036G>A	10.37:g.72489939G>A	ENSP00000362303:p.Asp346Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72159945	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893180	0.91889	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.86627	-2.15;-2.15	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.058059	0.64402	D	0.000003	D	0.91788	0.7402	L	0.56769	1.78	0.45554	D	0.998502	D;D	0.76494	0.972;0.999	P;D	0.78314	0.822;0.991	D	0.90470	0.4452	10	0.35671	T	0.21	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	346;346	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	346	ENSP00000362304:D346N;ENSP00000362303:D346N	ENSP00000362303:D346N	D	+	1	0	ADAMTS14	72159945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.460000	0.73518	2.608000	0.88229	0.655000	0.94253	GAC		0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
SGPL1	8879	broad.mit.edu	37	10	72633281	72633281	+	Silent	SNP	C	C	T	rs201201720		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:72633281C>T	ENST00000373202.3	+	12	1433	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	411					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.F411F(1)		large_intestine(4)	4						TGATGCACTTCGGTGAGAACG	0.527																																					p.F411F	Colon(151;1054 2458 6676 40971)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1233T	10						.						140.0	125.0	130.0					10																	72633281		2203	4300	6503	72303287	SO:0001819	synonymous_variant	8879	exon12			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1233C>T	10.37:g.72633281C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72303287	NM_003901	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	CCDS31216.1																																																																																				0.527	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	
CDH23	64072	broad.mit.edu	37	10	73538021	73538021	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:73538021G>T	ENST00000224721.6	+	39	5163	c.5158G>T	c.(5158-5160)Gac>Tac	p.D1720Y		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1715	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.D1720Y(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACTGCCACAGACCAGTGCCC	0.612																																					p.D1715Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5143T	10						.						86.0	93.0	90.0					10																	73538021		2102	4217	6319	73208027	SO:0001583	missense	64072	exon38			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5158G>T	10.37:g.73538021G>T	ENSP00000224721:p.Asp1720Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	73208027	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.932347	0.92389	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94713	0.7894	9	0.87932	D	0	.	19.1919	0.93671	0.0:0.0:1.0:0.0	.	1715	Q9H251	CAD23_HUMAN	Y	1720;1715;1718	.	ENSP00000224721:D1720Y	D	+	1	0	CDH23	73208027	1.000000	0.71417	0.951000	0.38953	0.969000	0.65631	9.714000	0.98744	2.537000	0.85549	0.655000	0.94253	GAC		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
MCU	90550	broad.mit.edu	37	10	74644090	74644090	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:74644090T>C	ENST00000373053.3	+	7	949	c.928T>C	c.(928-930)Tca>Cca	p.S310P	MCU_ENST00000536019.1_Missense_Mutation_p.S261P|MCU_ENST00000357157.6_Missense_Mutation_p.S289P|MCU_ENST00000605416.1_3'UTR	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	310					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.S310P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGCCAAAAAGTCACGTTTTGA	0.338																																					p.S310P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T928C	10						.						92.0	96.0	95.0					10																	74644090		2202	4300	6502	74314096	SO:0001583	missense	90550	exon7			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.928T>C	10.37:g.74644090T>C	ENSP00000362144:p.Ser310Pro	Somatic		Capture	Illumina HiSeq	Phase_I	74314096	NM_138357	B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460940	0.43736	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.31247	1.5;1.5;1.5	6.02	3.57	0.40892	Coiled-coil domain containing protein 109, C-terminal (1);	0.233791	0.41097	D	0.000950	T	0.23611	0.0571	N	0.17082	0.46	0.45227	D	0.998235	P;B;B	0.36599	0.56;0.147;0.355	B;B;B	0.43838	0.395;0.104;0.433	T	0.05022	-1.0911	10	0.33141	T	0.24	-9.1577	10.6544	0.45667	0.4303:0.0:0.0:0.5697	.	289;261;310	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	P	310;289;261	ENSP00000362144:S310P;ENSP00000349680:S289P;ENSP00000440913:S261P	ENSP00000349680:S289P	S	+	1	0	MCU	74314096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.375000	0.59549	1.071000	0.40834	0.533000	0.62120	TCA		0.338	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357	
MYOZ1	58529	broad.mit.edu	37	10	75391779	75391779	+	Missense_Mutation	SNP	C	C	T	rs147643592		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:75391779C>T	ENST00000359322.4	-	6	1173	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1									p.R270Q(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					AATAGGGGTTCGATTGAAAGA	0.542																																					p.R270Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	10						.	C	GLN/ARG	0,4406		0,0,2203	100.0	100.0	100.0		809	5.1	1.0	10	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYOZ1	NM_021245.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	270/300	75391779	2,13004	2203	4300	6503	75061785	SO:0001583	missense	58529	exon6			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.809G>A	10.37:g.75391779C>T	ENSP00000352272:p.Arg270Gln	Somatic		Capture	Illumina HiSeq	Phase_I	75061785	NM_021245		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479902	0.96307	0.0	2.33E-4	ENSG00000177791	ENST00000359322	T	0.73897	-0.79	6.06	5.14	0.70334	.	0.056907	0.64402	D	0.000002	D	0.86205	0.5877	M	0.82823	2.61	0.58432	D	0.999999	D	0.76494	0.999	P	0.62560	0.904	D	0.88563	0.3124	10	0.72032	D	0.01	-7.4441	17.2749	0.87112	0.0:0.8745:0.1255:0.0	.	270	Q9NP98	MYOZ1_HUMAN	Q	270	ENSP00000352272:R270Q	ENSP00000352272:R270Q	R	-	2	0	MYOZ1	75061785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.466000	0.80914	1.527000	0.49086	0.655000	0.94253	CGA		0.542	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		
NDST2	8509	broad.mit.edu	37	10	75567378	75567378	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:75567378G>T	ENST00000309979.6	-	3	1325	c.769C>A	c.(769-771)Ctt>Att	p.L257I	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.L257I|NDST2_ENST00000299641.4_Missense_Mutation_p.L134I			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	257	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.L257I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GCCCGACGAAGAACTGGTCCT	0.567																																					p.L257I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769A	10						.						53.0	53.0	53.0					10																	75567378		2203	4300	6503	75237384	SO:0001583	missense	8509	exon3			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.769C>A	10.37:g.75567378G>T	ENSP00000310657:p.Leu257Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75237384	NM_003635	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	7.435	0.639460	0.14386	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.43294	1.27;0.95	5.75	0.294	0.15747	.	0.455245	0.22713	N	0.056541	T	0.15782	0.0380	N	0.08118	0	0.09310	N	0.999997	B;B	0.22003	0.0;0.063	B;B	0.23852	0.007;0.049	T	0.10337	-1.0634	10	0.19590	T	0.45	.	0.9269	0.01327	0.2433:0.1062:0.2656:0.3849	.	134;257	B4E139;P52849	.;NDST2_HUMAN	I	257;134	ENSP00000310657:L257I;ENSP00000299641:L134I	ENSP00000299641:L134I	L	-	1	0	NDST2	75237384	0.036000	0.19791	0.266000	0.24541	0.845000	0.48019	0.238000	0.18004	0.054000	0.16065	-0.152000	0.13540	CTT		0.567	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635	
DLG5	9231	broad.mit.edu	37	10	79565550	79565550	+	Silent	SNP	C	C	T	rs142141850		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:79565550C>T	ENST00000372391.2	-	27	5042	c.5037G>A	c.(5035-5037)acG>acA	p.T1679T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1339T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1679					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.T1679T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCGCTGACAGCGTCTTTGTGG	0.562																																					p.T1679T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5037A	10						.						123.0	106.0	112.0					10																	79565550		2203	4300	6503	79235556	SO:0001819	synonymous_variant	9231	exon27			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5037G>A	10.37:g.79565550C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79235556	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																				0.562	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
ZMIZ1	57178	broad.mit.edu	37	10	81057402	81057402	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:81057402C>A	ENST00000334512.5	+	14	2018	c.1446C>A	c.(1444-1446)ttC>ttA	p.F482L		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	482	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F482L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATAACACGTTCTCGGGAAGCA	0.433																																					p.F482L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1446A	10						.						101.0	98.0	99.0					10																	81057402		2203	4300	6503	80727408	SO:0001583	missense	57178	exon14			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1446C>A	10.37:g.81057402C>A	ENSP00000334474:p.Phe482Leu	Somatic		Capture	Illumina HiSeq	Phase_I	80727408	NM_020338	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177224	0.57692	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.52295	0.67	5.42	4.51	0.55191	.	0.515737	0.15574	N	0.255270	T	0.43500	0.1250	M	0.66939	2.045	0.80722	D	1	B	0.16396	0.017	B	0.21360	0.034	T	0.36187	-0.9758	10	0.30078	T	0.28	-15.9994	7.3316	0.26586	0.0:0.819:0.0:0.181	.	482	Q9ULJ6	ZMIZ1_HUMAN	L	482;412;389	ENSP00000334474:F482L	ENSP00000334474:F482L	F	+	3	2	ZMIZ1	80727408	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.496000	0.35638	2.543000	0.85770	0.563000	0.77884	TTC		0.433	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
NRG3	10718	broad.mit.edu	37	10	84745232	84745232	+	Silent	SNP	C	C	T	rs200810972		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:84745232C>T	ENST00000404547.1	+	10	2034	c.2034C>T	c.(2032-2034)agC>agT	p.S678S	NRG3_ENST00000404576.2_Silent_p.S458S|NRG3_ENST00000537893.1_Silent_p.S304S|NRG3_ENST00000372142.2_Silent_p.S457S|NRG3_ENST00000556918.1_Silent_p.S484S|NRG3_ENST00000545131.1_Silent_p.S304S|NRG3_ENST00000372141.2_Silent_p.S654S			P56975	NRG3_HUMAN	neuregulin 3	678					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S457S(1)|p.S654S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AACTGGCCAGCGTAGAAACCG	0.473																																					p.S457S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1371T	10						.						74.0	69.0	71.0					10																	84745232		2203	4300	6503	84735212	SO:0001819	synonymous_variant	10718	exon11			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2034C>T	10.37:g.84745232C>T		Somatic		Capture	Illumina HiSeq	Phase_I	84735212	NM_001165973	A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	CCDS31233.1																																																																																				0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
CDHR1	92211	broad.mit.edu	37	10	85971999	85971999	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:85971999G>A	ENST00000372117.3	+	15	1721	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	CDHR1_ENST00000332904.3_Missense_Mutation_p.A540T|CDHR1_ENST00000440770.2_Missense_Mutation_p.A244T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.A540T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGACGCTGAGGCCACTGCCAG	0.567																																					p.A540T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1618A	10						.						128.0	115.0	119.0					10																	85971999		2203	4300	6503	85961979	SO:0001583	missense	92211	exon15			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1618G>A	10.37:g.85971999G>A	ENSP00000361189:p.Ala540Thr	Somatic		Capture	Illumina HiSeq	Phase_I	85961979	NM_001171971	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114534	0.37339	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.51325	0.71;0.71;0.71	4.71	2.79	0.32731	Cadherin (4);Cadherin-like (1);	0.194135	0.44097	D	0.000497	T	0.17109	0.0411	N	0.01417	-0.88	0.27509	N	0.951737	B;B;B	0.15141	0.002;0.012;0.003	B;B;B	0.16289	0.007;0.01;0.015	T	0.20306	-1.0279	10	0.13108	T	0.6	-29.2661	10.0868	0.42423	0.1724:0.0:0.8276:0.0	.	244;540;540	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	T	540;540;244	ENSP00000331063:A540T;ENSP00000361189:A540T;ENSP00000415980:A244T	ENSP00000331063:A540T	A	+	1	0	CDHR1	85961979	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	3.351000	0.52232	1.093000	0.41377	0.655000	0.94253	GCC		0.567	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
CCSER2	54462	broad.mit.edu	37	10	86131904	86131904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:86131904G>T	ENST00000224756.8	+	2	1281	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CCSER2_ENST00000359979.4_Nonsense_Mutation_p.E366*|CCSER2_ENST00000372088.2_Nonsense_Mutation_p.E366*	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	366					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.E366*(1)									TAAGGACCAAGAACTGATTGA	0.373																																					p.E366X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1096T	10						.						97.0	95.0	96.0					10																	86131904		2203	4300	6503	86121884	SO:0001587	stop_gained	54462	exon2				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1096G>T	10.37:g.86131904G>T	ENSP00000224756:p.Glu366*	Somatic		Capture	Illumina HiSeq	Phase_I	86121884	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Nonsense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069033	0.93950	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	.	.	.	5.73	4.83	0.62350	.	0.510841	0.19333	N	0.116845	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-9.2655	8.9592	0.35836	0.1666:0.0:0.8334:0.0	.	.	.	.	X	366	.	ENSP00000224756:E366X	E	+	1	0	FAM190B	86121884	0.997000	0.39634	0.991000	0.47740	0.765000	0.43378	2.680000	0.46918	1.440000	0.47531	-0.150000	0.13652	GAA		0.373	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
MMRN2	79812	broad.mit.edu	37	10	88703125	88703125	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:88703125G>A	ENST00000372027.5	-	6	1737	c.1416C>T	c.(1414-1416)aaC>aaT	p.N472N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	472					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N472N(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCAGCGTGAGGTTGAGCTCCA	0.587																																					p.N472N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T	10						.						50.0	44.0	46.0					10																	88703125		2203	4300	6503	88693105	SO:0001819	synonymous_variant	79812	exon6			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1416C>T	10.37:g.88703125G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88693105	NM_024756	Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	CCDS7379.1																																																																																				0.587	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
GLUD1	2746	broad.mit.edu	37	10	88827869	88827869	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:88827869C>T	ENST00000277865.4	-	5	788	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	GLUD1_ENST00000537649.1_Missense_Mutation_p.R64Q|GLUD1_ENST00000544149.1_Missense_Mutation_p.R98Q	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	231					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.R231Q(1)|p.R231P(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GGACATCTCCCGCTCACCTGT	0.532																																					p.R231Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G692A	10						.						81.0	71.0	74.0					10																	88827869		2203	4300	6503	88817849	SO:0001583	missense	2746	exon5			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.692G>A	10.37:g.88827869C>T	ENSP00000277865:p.Arg231Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88817849	NM_005271	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947727	0.92593	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.97209	-4.29;-4.27;-4.26	5.17	4.27	0.50696	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.61940	0.861;0.896	D	0.95518	0.8592	10	0.21014	T	0.42	.	13.5102	0.61508	0.0:0.9244:0.0:0.0756	.	98;231	B4DGN5;P00367	.;DHE3_HUMAN	Q	231;188;64;163;98	ENSP00000277865:R231Q;ENSP00000439291:R64Q;ENSP00000444732:R98Q	ENSP00000277865:R231Q	R	-	2	0	GLUD1	88817849	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.799000	0.85936	1.199000	0.43173	0.591000	0.81541	CGG		0.532	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271	
NUTM2A	728118	broad.mit.edu	37	10	88992643	88992643	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:88992643C>T	ENST00000381707.2	+	5	2018	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	NUTM2A_ENST00000381689.4_Silent_p.G545G|NUTM2A-AS1_ENST00000456104.1_RNA|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	545								p.G472G(1)|p.G545G(1)									GGGAAGAGGGCGAAGTGAAGC	0.622																																					p.G545G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1635T	10						.						7.0	9.0	8.0					10																	88992643		1548	3120	4668	88982623	SO:0001819	synonymous_variant	728118	exon5				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.1635C>T	10.37:g.88992643C>T		Somatic		Capture	Illumina HiSeq	Phase_I	88982623	NM_001099338	A6NMX5|C9JDI1|Q5VZW1	Silent	SNP	ENST00000381707.2	37	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	c	1.394	-0.579969	0.03854	.	.	ENSG00000184923	ENST00000451286	.	.	.	1.18	-2.37	0.06643	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3699	0.00378	0.2457:0.3061:0.2443:0.2039	.	.	.	.	X	323	.	.	R	+	1	2	FAM22A	88982623	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.742000	0.01835	-1.263000	0.02455	0.374000	0.22700	CGA		0.622	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338	
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.R130Q		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,central_nervous_system,brain,Substitution - Nonsense,+1 	.	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	c.G389A	10	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	.						139.0	129.0	133.0					10																	89692905		2203	4300	6503	89682885	SO:0001583	missense	5728	exon5	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89682885	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	broad.mit.edu	37	10	89720744	89720744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:89720744G>T	ENST00000371953.3	+	8	2252	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	299	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.E299*(6)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGTGATCAAGAAATCGATAG	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.E299X		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,endometrium,NS,Substitution - Nonsense,0 	.	56	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(6)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|large_intestine(2)|urinary_tract(2)|soft_tissue(1)	c.G895T	10						.						94.0	92.0	93.0					10																	89720744		2203	4298	6501	89710724	SO:0001587	stop_gained	5728	exon8	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.895G>T	10.37:g.89720744G>T	ENSP00000361021:p.Glu299*	Somatic		Capture	Illumina HiSeq	Phase_I	89710724	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	48	14.869338	0.99813	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	0.222866	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8198	18.5632	0.91108	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	.	E	+	1	0	PTEN	89710724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.399000	0.81585	0.591000	0.81541	GAA		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
IFIT2	3433	broad.mit.edu	37	10	91065852	91065852	+	Missense_Mutation	SNP	C	C	T	rs369661844		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:91065852C>T	ENST00000371826.3	+	2	308	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	47					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.R47C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTTTCAGAATCGTGAATTCAA	0.438																																					p.R47C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C139T	10						.						68.0	73.0	71.0					10																	91065852		2147	4281	6428	91055832	SO:0001583	missense	3433	exon2			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.139C>T	10.37:g.91065852C>T	ENSP00000360891:p.Arg47Cys	Somatic		Capture	Illumina HiSeq	Phase_I	91055832	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753043	0.31046	.	.	ENSG00000119922	ENST00000371826	T	0.47177	0.85	4.58	0.933	0.19471	.	0.923932	0.09182	N	0.837329	T	0.29355	0.0731	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29088	-1.0023	10	0.66056	D	0.02	-0.8327	2.0652	0.03601	0.4178:0.3409:0.0902:0.1511	.	47	P09913	IFIT2_HUMAN	C	47	ENSP00000360891:R47C	ENSP00000360891:R47C	R	+	1	0	IFIT2	91055832	0.000000	0.05858	0.119000	0.21687	0.853000	0.48598	-0.933000	0.03959	0.143000	0.18926	-0.262000	0.10625	CGT		0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	
IFIT1B	439996	broad.mit.edu	37	10	91143468	91143468	+	Missense_Mutation	SNP	G	G	A	rs148517080	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:91143468G>A	ENST00000371809.3	+	2	478	c.398G>A	c.(397-399)cGc>cAc	p.R133H	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	133								p.R133H(1)		endometrium(2)|large_intestine(3)|lung(8)	13						AATCCTTCCCGCTATAGAATG	0.498													G|||	8	0.00159744	0.0061	0.0	5008	,	,		20699	0.0		0.0	False		,,,				2504	0.0				p.R133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	10						.	G	HIS/ARG	46,4360	46.7+/-81.2	0,46,2157	59.0	59.0	59.0		398	1.2	0.0	10	dbSNP_134	59	0,8600		0,0,4300	yes	missense	IFIT1B	NM_001010987.2	29	0,46,6457	AA,AG,GG		0.0,1.044,0.3537	benign	133/475	91143468	46,12960	2203	4300	6503	91133448	SO:0001583	missense	439996	exon2				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.398G>A	10.37:g.91143468G>A	ENSP00000360874:p.Arg133His	Somatic		Capture	Illumina HiSeq	Phase_I	91133448	NM_001010987	A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	CCDS31242.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	2.542	-0.305987	0.05458	0.01044	0.0	ENSG00000204010	ENST00000371809	T	0.63096	-0.02	4.43	1.2	0.21068	Tetratricopeptide-like helical (1);	0.538573	0.20154	U	0.098100	T	0.38799	0.1054	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23868	-1.0176	10	0.34782	T	0.22	.	3.971	0.09454	0.3918:0.1743:0.434:0.0	.	133	Q5T764	IFT1B_HUMAN	H	133	ENSP00000360874:R133H	ENSP00000360874:R133H	R	+	2	0	IFIT1B	91133448	0.000000	0.05858	0.021000	0.16686	0.088000	0.18126	0.486000	0.22340	0.280000	0.22209	0.557000	0.71058	CGC		0.498	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987	
IFIT1	3434	broad.mit.edu	37	10	91162796	91162796	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:91162796G>A	ENST00000371804.3	+	2	931	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.R224Q	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	255					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.R255Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TATGTCTTTCGATATGCAGCC	0.443																																					p.R255Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	10						.						121.0	123.0	123.0					10																	91162796		2203	4300	6503	91152776	SO:0001583	missense	3434	exon2			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.764G>A	10.37:g.91162796G>A	ENSP00000360869:p.Arg255Gln	Somatic		Capture	Illumina HiSeq	Phase_I	91152776	NM_001548	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131782	0.77662	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73897	-0.79;-0.79	5.49	3.65	0.41850	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.068339	0.56097	D	0.000033	T	0.72334	0.3447	M	0.68728	2.09	0.40735	D	0.982782	P;P	0.46912	0.886;0.886	P;P	0.44477	0.451;0.451	T	0.69771	-0.5055	10	0.26408	T	0.33	.	11.6919	0.51521	0.1299:0.0:0.8701:0.0	.	255;255	Q5T7J1;P09914	.;IFIT1_HUMAN	Q	255;224	ENSP00000360869:R255Q;ENSP00000441968:R224Q	ENSP00000360869:R255Q	R	+	2	0	IFIT1	91152776	0.935000	0.31712	0.095000	0.20976	0.862000	0.49288	5.229000	0.65316	0.794000	0.33899	0.557000	0.71058	CGA		0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548	
IFIT5	24138	broad.mit.edu	37	10	91177764	91177764	+	Missense_Mutation	SNP	G	G	A	rs200178716		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:91177764G>A	ENST00000371795.4	+	2	1021	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	IFIT5_ENST00000416601.1_Missense_Mutation_p.E222K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	270					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)	p.E270K(1)		endometrium(1)|large_intestine(4)|lung(4)	9						CAAAGCTCTCGAACTTTTAAA	0.428																																					p.E270K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	10						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73.0	78.0	77.0		808	0.1	0.9	10		77	0,8596		0,0,4298	yes	missense	IFIT5	NM_012420.2	56	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	270/483	91177764	1,13001	2203	4298	6501	91167744	SO:0001583	missense	24138	exon2			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.808G>A	10.37:g.91177764G>A	ENSP00000360860:p.Glu270Lys	Somatic		Capture	Illumina HiSeq	Phase_I	91167744	NM_012420	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199103	0.38806	2.27E-4	0.0	ENSG00000152778	ENST00000371795;ENST00000416601	T;D	0.88354	0.67;-2.37	5.79	0.114	0.14639	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.409726	0.26496	N	0.024050	D	0.83418	0.5250	L	0.61218	1.895	0.18873	N	0.999989	B;B	0.20671	0.047;0.047	B;B	0.15484	0.008;0.013	T	0.68648	-0.5353	10	0.23302	T	0.38	-8.8019	9.087	0.36587	0.1364:0.469:0.3947:0.0	.	270;222	Q13325;B4DDV1	IFIT5_HUMAN;.	K	270;222	ENSP00000360860:E270K;ENSP00000414042:E222K	ENSP00000360860:E270K	E	+	1	0	IFIT5	91167744	0.049000	0.20398	0.925000	0.36789	0.974000	0.67602	0.806000	0.27126	0.343000	0.23821	0.655000	0.94253	GAA		0.428	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420	
KIF20B	9585	broad.mit.edu	37	10	91498346	91498346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:91498346G>T	ENST00000371728.3	+	20	3813	c.3748G>T	c.(3748-3750)Gaa>Taa	p.E1250*	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E1280*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E1210*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E1250*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1250	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E1210*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAAGAAGAAGAAGAAACCAA	0.269																																					p.E1210X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3628T	10						.						31.0	33.0	33.0					10																	91498346		1997	4183	6180	91488326	SO:0001587	stop_gained	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3748G>T	10.37:g.91498346G>T	ENSP00000360793:p.Glu1250*	Somatic		Capture	Illumina HiSeq	Phase_I	91488326	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	g	38	6.971109	0.97971	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.61	1.92	0.25849	.	1.022920	0.07787	N	0.954399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3043	5.9067	0.19004	0.6479:0.1297:0.2224:0.0	.	.	.	.	X	1210;1280;1250;1250	.	ENSP00000260753:E1210X	E	+	1	0	KIF20B	91488326	0.936000	0.31750	0.975000	0.42487	0.276000	0.26787	0.736000	0.26130	0.073000	0.16731	-0.592000	0.04112	GAA		0.269	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
HTR7	3363	broad.mit.edu	37	10	92508704	92508704	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:92508704C>T	ENST00000336152.3	-	2	1213	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	HTR7_ENST00000371721.3_Missense_Mutation_p.R396H|HTR7_ENST00000371719.2_Missense_Mutation_p.R396H|HTR7_ENST00000277874.6_Missense_Mutation_p.R396H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	396					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R396H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAGCAGGCTGCGATAGGTGGT	0.532																																					p.R396H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187A	10						.						145.0	151.0	149.0					10																	92508704		2203	4300	6503	92498684	SO:0001583	missense	3363	exon2			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1187G>A	10.37:g.92508704C>T	ENSP00000337949:p.Arg396His	Somatic		Capture	Illumina HiSeq	Phase_I	92498684	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129086	0.37533	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.53	4.63	0.57726	.	0.112660	0.64402	D	0.000010	T	0.31918	0.0812	L	0.32530	0.975	0.48571	D	0.999673	B;B	0.26147	0.107;0.143	B;B	0.17098	0.007;0.017	T	0.05971	-1.0853	10	0.30078	T	0.28	.	14.0863	0.64959	0.0:0.9274:0.0:0.0726	.	396;396	P34969;P34969-2	5HT7R_HUMAN;.	H	396	ENSP00000337949:R396H;ENSP00000277874:R396H;ENSP00000360784:R396H;ENSP00000360786:R396H	ENSP00000277874:R396H	R	-	2	0	HTR7	92498684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.065000	0.57513	1.322000	0.45245	0.650000	0.86243	CGC		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
HTR7	3363	broad.mit.edu	37	10	92616951	92616951	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:92616951C>T	ENST00000336152.3	-	1	504	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	HTR7_ENST00000371721.3_Missense_Mutation_p.A160T|HTR7_ENST00000371719.2_Missense_Mutation_p.A160T|HTR7_ENST00000277874.6_Missense_Mutation_p.A160T	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	160					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.A160T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACGTCCATGGCGATGAAGACA	0.612																																					p.A160T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478A	10						.						58.0	44.0	49.0					10																	92616951		2203	4300	6503	92606931	SO:0001583	missense	3363	exon1			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.478G>A	10.37:g.92616951C>T	ENSP00000337949:p.Ala160Thr	Somatic		Capture	Illumina HiSeq	Phase_I	92606931	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566601	0.96540	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.41632	1.29	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.55923	0.787;0.713	T	0.02852	-1.1102	10	0.46703	T	0.11	.	18.2215	0.89903	0.0:1.0:0.0:0.0	.	160;160	P34969;P34969-2	5HT7R_HUMAN;.	T	160	ENSP00000337949:A160T;ENSP00000277874:A160T;ENSP00000360784:A160T;ENSP00000360786:A160T	ENSP00000277874:A160T	A	-	1	0	HTR7	92606931	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.309000	0.77851	0.563000	0.77884	GCC		0.612	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
HTR7	3363	broad.mit.edu	37	10	92617008	92617008	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:92617008T>C	ENST00000336152.3	-	1	447	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	HTR7_ENST00000371721.3_Missense_Mutation_p.T141A|HTR7_ENST00000371719.2_Missense_Mutation_p.T141A|HTR7_ENST00000277874.6_Missense_Mutation_p.T141A	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	141					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T141A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATGAGGTCGGTGACGCTGACG	0.592																																					p.T141A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A421G	10						.						65.0	58.0	60.0					10																	92617008		2203	4300	6503	92606988	SO:0001583	missense	3363	exon1			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.421A>G	10.37:g.92617008T>C	ENSP00000337949:p.Thr141Ala	Somatic		Capture	Illumina HiSeq	Phase_I	92606988	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176103	0.57692	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.46819	1.47	0.48185	D	0.999608	D;D	0.53619	0.961;0.961	P;P	0.60012	0.867;0.721	T	0.03306	-1.1050	10	0.18710	T	0.47	.	14.6436	0.68742	0.0:0.0:0.0:1.0	.	141;141	P34969;P34969-2	5HT7R_HUMAN;.	A	141	ENSP00000337949:T141A;ENSP00000277874:T141A;ENSP00000360784:T141A;ENSP00000360786:T141A	ENSP00000277874:T141A	T	-	1	0	HTR7	92606988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	1.872000	0.54250	0.460000	0.39030	ACC		0.592	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
HTR7	3363	broad.mit.edu	37	10	92617192	92617192	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:92617192G>A	ENST00000336152.3	-	1	263	c.237C>T	c.(235-237)gtC>gtT	p.V79V	HTR7_ENST00000371721.3_Silent_p.V79V|HTR7_ENST00000371719.2_Silent_p.V79V|HTR7_ENST00000277874.6_Silent_p.V79V	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	79					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.V79V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CAACTTTCTCGACTCTGCCGT	0.637																																					p.V79V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	10						.						64.0	54.0	57.0					10																	92617192		2203	4300	6503	92607172	SO:0001819	synonymous_variant	3363	exon1			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.237C>T	10.37:g.92617192G>A		Somatic		Capture	Illumina HiSeq	Phase_I	92607172	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	CCDS7408.1																																																																																				0.637	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
ANKRD1	27063	broad.mit.edu	37	10	92675353	92675353	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:92675353T>C	ENST00000371697.3	-	8	1044	c.796A>G	c.(796-798)Aag>Gag	p.K266E		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	266					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.K266E(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CGGATCATCTTATAGCGGTTC	0.493																																					p.K266E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A796G	10						.						125.0	111.0	116.0					10																	92675353		2203	4300	6503	92665333	SO:0001583	missense	27063	exon8			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.796A>G	10.37:g.92675353T>C	ENSP00000360762:p.Lys266Glu	Somatic		Capture	Illumina HiSeq	Phase_I	92665333	NM_014391	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423590	0.62733	.	.	ENSG00000148677	ENST00000371697	T	0.58940	0.3	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.069471	0.64402	D	0.000017	T	0.44329	0.1288	N	0.01289	-0.905	0.80722	D	1	D	0.60160	0.987	D	0.68483	0.958	T	0.51756	-0.8665	10	0.02654	T	1	.	15.7014	0.77544	0.0:0.0:0.0:1.0	.	266	Q15327	ANKR1_HUMAN	E	266	ENSP00000360762:K266E	ENSP00000360762:K266E	K	-	1	0	ANKRD1	92665333	1.000000	0.71417	0.994000	0.49952	0.139000	0.21198	7.636000	0.83301	2.094000	0.63399	0.528000	0.53228	AAG		0.493	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
TNKS2	80351	broad.mit.edu	37	10	93617204	93617204	+	Missense_Mutation	SNP	A	A	C	rs147361517		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:93617204A>C	ENST00000371627.4	+	24	3390	c.3011A>C	c.(3010-3012)aAa>aCa	p.K1004T		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1004	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K1004T(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGTAACAAGAAACTATGGGAA	0.353																																					p.K1004T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3011C	10						.						81.0	83.0	82.0					10																	93617204		2203	4300	6503	93607184	SO:0001583	missense	80351	exon24			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3011A>C	10.37:g.93617204A>C	ENSP00000360689:p.Lys1004Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93607184	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.042025	0.93685	.	.	ENSG00000107854	ENST00000371627	T	0.14022	2.54	5.38	5.38	0.77491	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.56097	D	0.000024	T	0.22589	0.0545	L	0.31157	0.91	0.80722	D	1	P	0.43412	0.806	P	0.54815	0.761	T	0.01090	-1.1455	10	0.87932	D	0	.	15.6856	0.77409	1.0:0.0:0.0:0.0	.	1004	Q9H2K2	TNKS2_HUMAN	T	1004	ENSP00000360689:K1004T	ENSP00000360689:K1004T	K	+	2	0	TNKS2	93607184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.176000	0.68965	0.455000	0.32223	AAA		0.353	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
BTAF1	9044	broad.mit.edu	37	10	93744052	93744052	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:93744052G>A	ENST00000265990.6	+	19	2626	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	773					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R773Q(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCATTCACACGAATGCAGAAT	0.343																																					p.R773Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2318A	10						.						103.0	91.0	95.0					10																	93744052		2202	4300	6502	93734032	SO:0001583	missense	9044	exon19			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2318G>A	10.37:g.93744052G>A	ENSP00000265990:p.Arg773Gln	Somatic		Capture	Illumina HiSeq	Phase_I	93734032	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885245	0.91814	.	.	ENSG00000095564	ENST00000265990	D	0.90788	-2.73	5.67	5.67	0.87782	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94883	0.8346	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.962	D	0.94080	0.7343	10	0.46703	T	0.11	-1.8078	19.7677	0.96349	0.0:0.0:1.0:0.0	.	773;773	Q2M1V9;O14981	.;BTAF1_HUMAN	Q	773	ENSP00000265990:R773Q	ENSP00000265990:R773Q	R	+	2	0	BTAF1	93734032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.668000	0.90789	0.650000	0.86243	CGA		0.343	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
EXOC6	54536	broad.mit.edu	37	10	94695598	94695598	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:94695598C>T	ENST00000260762.6	+	12	1182	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	EXOC6_ENST00000371552.4_Silent_p.L385L|EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Silent_p.L406L	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	390					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.L390L(1)|p.L385L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TGATCTTGTTCTGGAGCTGAA	0.348																																					p.L385L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1153T	10						.						88.0	91.0	90.0					10																	94695598		2202	4300	6502	94685578	SO:0001819	synonymous_variant	54536	exon12			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1168C>T	10.37:g.94695598C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94685578	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	CCDS7424.2																																																																																				0.348	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
MYOF	26509	broad.mit.edu	37	10	95141020	95141020	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:95141020T>G	ENST00000359263.4	-	20	1831	c.1832A>C	c.(1831-1833)aAg>aCg	p.K611T	MYOF_ENST00000358334.5_Missense_Mutation_p.K598T|MYOF_ENST00000371502.4_Missense_Mutation_p.K611T|MYOF_ENST00000371501.4_Missense_Mutation_p.K611T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	611					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.K611T(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCCAAAGGCTTACAGGTGGT	0.478																																					p.K598T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1793C	10						.						162.0	159.0	160.0					10																	95141020		2085	4225	6310	95131010	SO:0001583	missense	26509	exon19			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1832A>C	10.37:g.95141020T>G	ENSP00000352208:p.Lys611Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95131010	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.194363	0.38806	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.84370	-1.83;-1.83;-1.83;-1.84	5.21	4.05	0.47172	.	0.096155	0.64402	D	0.000001	D	0.88887	0.6559	M	0.64567	1.98	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.91635	0.979;0.999	D	0.85335	0.1092	10	0.12430	T	0.62	-19.9565	11.332	0.49482	0.1362:0.0:0.0:0.8638	.	598;611	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	T	598;611;611;611	ENSP00000351094:K598T;ENSP00000352208:K611T;ENSP00000360556:K611T;ENSP00000360557:K611T	ENSP00000351094:K598T	K	-	2	0	MYOF	95131010	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	5.971000	0.70440	0.963000	0.38082	0.402000	0.26972	AAG		0.478	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
PLCE1	51196	broad.mit.edu	37	10	95791065	95791065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:95791065G>T	ENST00000371380.3	+	1	497	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.E88*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	88					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.E88*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAACAGTAATGAAAAATGTTG	0.393																																					p.E88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G262T	10						.						83.0	76.0	78.0					10																	95791065		1867	4098	5965	95781055	SO:0001587	stop_gained	51196	exon2				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.262G>T	10.37:g.95791065G>T	ENSP00000360431:p.Glu88*	Somatic		Capture	Illumina HiSeq	Phase_I	95781055	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	44	10.614891	0.99438	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	.	.	.	5.02	5.02	0.67125	.	0.447980	0.18802	N	0.130763	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7015	0.88296	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000260766:E88X	E	+	1	0	PLCE1	95781055	1.000000	0.71417	0.949000	0.38748	0.895000	0.52256	3.395000	0.52558	2.487000	0.83934	0.655000	0.94253	GAA		0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
PLCE1	51196	broad.mit.edu	37	10	95931014	95931014	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:95931014G>A	ENST00000371380.3	+	3	1805	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	PLCE1_ENST00000371385.3_Missense_Mutation_p.D216N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D216N|PLCE1_ENST00000260766.3_Missense_Mutation_p.D524N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	524					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D524N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGAGCTGATCGATCTGCAGCC	0.542																																					p.D216N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646A	10						.						132.0	131.0	132.0					10																	95931014		2015	4167	6182	95921004	SO:0001583	missense	51196	exon3				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1570G>A	10.37:g.95931014G>A	ENSP00000360431:p.Asp524Asn	Somatic		Capture	Illumina HiSeq	Phase_I	95921004	NM_001165979	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476158	0.84640	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.71	5.71	0.89125	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.064411	0.64402	D	0.000009	T	0.41627	0.1167	L	0.29908	0.895	0.51767	D	0.999934	D;D;D	0.71674	0.998;0.989;0.994	P;P;P	0.56865	0.808;0.622;0.723	T	0.22243	-1.0222	10	0.62326	D	0.03	.	19.8687	0.96842	0.0:0.0:1.0:0.0	.	524;216;524	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	524;524;216;216	ENSP00000260766:D524N;ENSP00000360431:D524N;ENSP00000360438:D216N;ENSP00000360426:D216N	ENSP00000260766:D524N	D	+	1	0	PLCE1	95921004	1.000000	0.71417	0.998000	0.56505	0.314000	0.28054	7.025000	0.76449	2.689000	0.91719	0.563000	0.77884	GAT		0.542	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
NOC3L	64318	broad.mit.edu	37	10	96106235	96106235	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:96106235T>G	ENST00000371361.3	-	11	1436	c.1336A>C	c.(1336-1338)Aaa>Caa	p.K446Q	NOC3L_ENST00000371350.1_Missense_Mutation_p.K446Q|NOC3L_ENST00000543788.1_Missense_Mutation_p.K184Q|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	446					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K446Q(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GTCATAAATTTTTTTGGTTTA	0.254																																					p.K446Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1336C	10						.						60.0	59.0	59.0					10																	96106235		2185	4273	6458	96096225	SO:0001583	missense	64318	exon11			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1336A>C	10.37:g.96106235T>G	ENSP00000360412:p.Lys446Gln	Somatic		Capture	Illumina HiSeq	Phase_I	96096225	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584104	0.86748	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.16743	2.32;2.44;2.44	5.83	5.83	0.93111	.	0.094115	0.64402	D	0.000001	T	0.30792	0.0776	M	0.73962	2.25	0.47037	D	0.99929	P	0.48589	0.912	P	0.47864	0.559	T	0.03566	-1.1024	10	0.45353	T	0.12	-9.7681	15.8742	0.79148	0.0:0.0:0.0:1.0	.	446	Q8WTT2	NOC3L_HUMAN	Q	184;446;446	ENSP00000437838:K184Q;ENSP00000360412:K446Q;ENSP00000360401:K446Q	ENSP00000360401:K446Q	K	-	1	0	NOC3L	96096225	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.966000	0.76073	2.236000	0.73375	0.533000	0.62120	AAA		0.254	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
HELLS	3070	broad.mit.edu	37	10	96361341	96361341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:96361341G>T	ENST00000348459.5	+	22	2584	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E873*|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E729*	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.E827*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CAAGATATTAGAAAATTCTGA	0.313																																					p.E827X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2479T	10						.						65.0	72.0	70.0					10																	96361341		2202	4297	6499	96351331	SO:0001587	stop_gained	3070	exon22			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2479G>T	10.37:g.96361341G>T	ENSP00000239027:p.Glu827*	Somatic		Capture	Illumina HiSeq	Phase_I	96351331	NM_018063		Nonsense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	38	6.935770	0.97948	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.85	5.85	0.93711	.	0.156225	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.9439	17.3101	0.87207	0.0:0.0:1.0:0.0	.	.	.	.	X	827;729;873;264	.	ENSP00000239027:E827X	E	+	1	0	HELLS	96351331	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.277000	0.72608	2.767000	0.95098	0.563000	0.77884	GAA		0.313	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	
CYP2C19	1557	broad.mit.edu	37	10	96612523	96612523	+	Missense_Mutation	SNP	G	G	A	rs138112316		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:96612523G>A	ENST00000371321.3	+	9	1407	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	442			R -> C (in allele CYP2C19*16; lowered catalytic activity; dbSNP:rs192154563). {ECO:0000269|PubMed:15499191}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R442H(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCCTGGCCCGCATGGAGCTG	0.433																																					p.R442H												.	.	3	Substitution - Missense(3)	lung(1)|large_intestine(1)|prostate(1)	c.G1325A	10						.						136.0	127.0	130.0					10																	96612523		2203	4300	6503	96602513	SO:0001583	missense	1557	exon9			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1325G>A	10.37:g.96612523G>A	ENSP00000360372:p.Arg442His	Somatic		Capture	Illumina HiSeq	Phase_I	96602513	NM_000769	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194038	0.78902	.	.	ENSG00000165841	ENST00000371321	T	0.70516	-0.49	3.19	3.19	0.36642	.	0.000000	0.64402	U	0.000003	T	0.74298	0.3698	M	0.89414	3.03	0.34964	D	0.752479	P	0.44946	0.846	B	0.41036	0.346	D	0.85401	0.1131	10	0.72032	D	0.01	.	12.2643	0.54668	0.0:0.0:1.0:0.0	.	442	P33261	CP2CJ_HUMAN	H	442	ENSP00000360372:R442H	ENSP00000360372:R442H	R	+	2	0	CYP2C19	96602513	0.985000	0.35326	0.998000	0.56505	0.918000	0.54935	5.208000	0.65203	1.492000	0.48499	0.597000	0.82753	CGC		0.433	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	
SORBS1	10580	broad.mit.edu	37	10	97135757	97135757	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:97135757G>T	ENST00000361941.3	-	17	1736	c.1710C>A	c.(1708-1710)ttC>ttA	p.F570L	SORBS1_ENST00000371246.2_Missense_Mutation_p.F592L|SORBS1_ENST00000371227.4_Missense_Mutation_p.F524L|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.F570L|SORBS1_ENST00000354106.3_Missense_Mutation_p.F540L|SORBS1_ENST00000277982.5_Missense_Mutation_p.F592L|SORBS1_ENST00000347291.4_Missense_Mutation_p.F438L|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.F455L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Missense_Mutation_p.F369L|SORBS1_ENST00000371245.3_Missense_Mutation_p.F455L|SORBS1_ENST00000607232.1_Missense_Mutation_p.F359L|SORBS1_ENST00000393949.1_Missense_Mutation_p.F540L|SORBS1_ENST00000474353.2_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.F455L(2)|p.F570L(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATTCCGAAAAGAATTTATACC	0.373																																					p.F570L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1710A	10						.						81.0	84.0	83.0					10																	97135757		2203	4300	6503	97125747	SO:0001583	missense	10580	exon17			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1710C>A	10.37:g.97135757G>T	ENSP00000355136:p.Phe570Leu	Somatic		Capture	Illumina HiSeq	Phase_I	97125747	NM_001034954		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496968	0.96355	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.66	5.66	0.87406	.	0.000000	0.38005	N	0.001855	T	0.53400	0.1794	N	0.25485	0.75	0.47374	D	0.999407	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996;0.989	D;D;D;D;P;P	0.80764	0.957;0.994;0.986;0.967;0.881;0.89	T	0.46857	-0.9161	10	0.32370	T	0.25	-15.3233	19.7499	0.96263	0.0:0.0:1.0:0.0	.	524;455;570;592;438;540	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	L	455;570;524;592;540;455;438;570;592;540;369	ENSP00000360291:F455L;ENSP00000360293:F570L;ENSP00000360271:F524L;ENSP00000360292:F592L;ENSP00000377521:F540L;ENSP00000343998:F455L;ENSP00000277985:F438L;ENSP00000355136:F570L;ENSP00000277982:F592L;ENSP00000277984:F540L;ENSP00000360283:F369L	ENSP00000277982:F592L	F	-	3	2	SORBS1	97125747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.672000	0.90937	0.655000	0.94253	TTC		0.373	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
ENTPD1	953	broad.mit.edu	37	10	97605149	97605149	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:97605149C>T	ENST00000371205.4	+	6	892	c.609C>T	c.(607-609)acC>acT	p.T203T	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.T95T|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Silent_p.T65T|ENTPD1_ENST00000539125.1_Silent_p.T65T|ENTPD1_ENST00000371207.3_Silent_p.T215T|ENTPD1_ENST00000453258.2_Silent_p.T210T			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	203					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.T203T(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CATATGAAACCAATAATCAGG	0.443																																					p.T203T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C609T	10						.						132.0	138.0	136.0					10																	97605149		2203	4300	6503	97595139	SO:0001819	synonymous_variant	953	exon6			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.609C>T	10.37:g.97605149C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97595139	NM_001776	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	CCDS7444.1																																																																																				0.443	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	
TM9SF3	56889	broad.mit.edu	37	10	98321811	98321811	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:98321811C>T	ENST00000371142.4	-	4	722	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	169						integral component of membrane (GO:0016021)		p.R169Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATCAACAATTCGATTTCCATT	0.303																																					p.R169Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	10						.						94.0	88.0	90.0					10																	98321811		2201	4295	6496	98311801	SO:0001583	missense	56889	exon4			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.506G>A	10.37:g.98321811C>T	ENSP00000360184:p.Arg169Gln	Somatic		Capture	Illumina HiSeq	Phase_I	98311801	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498184	0.44455	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.51574	0.7;0.7	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.12920	0.275	0.54753	D	0.999987	B	0.20988	0.05	B	0.12837	0.008	T	0.07177	-1.0786	10	0.33940	T	0.23	-7.0736	18.9055	0.92458	0.0:1.0:0.0:0.0	.	169	Q9HD45	TM9S3_HUMAN	Q	169;125	ENSP00000360184:R169Q;ENSP00000401152:R125Q	ENSP00000360184:R169Q	R	-	2	0	TM9SF3	98311801	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.049000	0.71053	2.707000	0.92482	0.563000	0.77884	CGA		0.303	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	
C10orf12	26148	broad.mit.edu	37	10	98741239	98741239	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:98741239G>T	ENST00000286067.2	+	1	199	c.92G>T	c.(91-93)aGa>aTa	p.R31I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	31								p.R31I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATTCCTCAAAGAAATTTGTTC	0.373																																					p.R31I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92T	10						.						75.0	74.0	74.0					10																	98741239		2203	4300	6503	98731229	SO:0001583	missense	26148	exon1			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.92G>T	10.37:g.98741239G>T	ENSP00000286067:p.Arg31Ile	Somatic		Capture	Illumina HiSeq	Phase_I	98731229	NM_015652	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797690	0.31777	.	.	ENSG00000155640	ENST00000286067	T	0.09630	2.96	5.95	2.69	0.31865	.	0.121018	0.36815	N	0.002389	T	0.06645	0.0170	L	0.27053	0.805	0.46061	D	0.998847	B	0.21071	0.051	B	0.21917	0.037	T	0.29119	-1.0022	10	0.72032	D	0.01	-6.4204	2.1096	0.03699	0.3731:0.0:0.3611:0.2659	.	31	Q8N655	CJ012_HUMAN	I	31	ENSP00000286067:R31I	ENSP00000286067:R31I	R	+	2	0	C10orf12	98731229	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	2.309000	0.43699	0.820000	0.34516	0.655000	0.94253	AGA		0.373	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
C10orf12	26148	broad.mit.edu	37	10	98741971	98741971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:98741971G>A	ENST00000286067.2	+	1	931	c.824G>A	c.(823-825)cGa>cAa	p.R275Q		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	275								p.R275Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTTTCACCTCGAAAAGAACCT	0.527																																					p.R275Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	10						.						77.0	81.0	80.0					10																	98741971		2203	4300	6503	98731961	SO:0001583	missense	26148	exon1			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.824G>A	10.37:g.98741971G>A	ENSP00000286067:p.Arg275Gln	Somatic		Capture	Illumina HiSeq	Phase_I	98731961	NM_015652	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	4.587	0.109157	0.08780	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07021	3.23	6.05	1.14	0.20703	.	1.115670	0.06933	N	0.811417	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B	0.24483	0.104;0.023	B;B	0.16289	0.014;0.015	T	0.45366	-0.9266	10	0.15066	T	0.55	-2.2557	0.0583	0.00014	0.3208:0.1917:0.2257:0.2619	.	109;275	A0PJI9;Q8N655	.;CJ012_HUMAN	Q	275;109	ENSP00000286067:R275Q	ENSP00000286067:R275Q	R	+	2	0	C10orf12	98731961	0.003000	0.15002	0.150000	0.22450	0.342000	0.28953	0.149000	0.16243	0.212000	0.20703	-0.290000	0.09829	CGA		0.527	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
C10orf12	26148	broad.mit.edu	37	10	98744219	98744219	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:98744219C>T	ENST00000286067.2	+	1	3179	c.3072C>T	c.(3070-3072)tgC>tgT	p.C1024C		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1024								p.C1024C(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAATGGAATGCCCAGATGCTC	0.488																																					p.C1024C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3072T	10						.						85.0	85.0	85.0					10																	98744219		2203	4300	6503	98734209	SO:0001819	synonymous_variant	26148	exon1			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3072C>T	10.37:g.98744219C>T		Somatic		Capture	Illumina HiSeq	Phase_I	98734209	NM_015652	Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	CCDS7452.1																																																																																				0.488	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
PGAM1	5223	broad.mit.edu	37	10	99190253	99190253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:99190253G>A	ENST00000334828.5	+	2	405	c.257G>A	c.(256-258)cGc>cAc	p.R86H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	86					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)	p.R86H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		AGGACTTGGCGCCTCAATGAG	0.552																																					p.R86H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	10						.						52.0	57.0	55.0					10																	99190253		2202	4275	6477	99180243	SO:0001583	missense	5223	exon2			BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.257G>A	10.37:g.99190253G>A	ENSP00000359991:p.Arg86His	Somatic		Capture	Illumina HiSeq	Phase_I	99180243	NM_002629	Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282953	0.80692	.	.	ENSG00000171314	ENST00000334828	T	0.74315	-0.83	5.58	5.58	0.84498	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.94306	3.52	0.80722	D	1	P;B;P	0.40000	0.518;0.058;0.698	B;B;B	0.37239	0.244;0.029;0.199	D	0.87473	0.2415	10	0.87932	D	0	-14.0107	19.1388	0.93439	0.0:0.0:1.0:0.0	.	71;86;86	B4DKL5;Q0D2Q6;P18669	.;.;PGAM1_HUMAN	H	86	ENSP00000359991:R86H	ENSP00000359991:R86H	R	+	2	0	PGAM1	99180243	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.579000	0.98204	2.621000	0.88768	0.555000	0.69702	CGC		0.552	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629	
R3HCC1L	27291	broad.mit.edu	37	10	99991407	99991407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:99991407C>T	ENST00000298999.3	+	6	2227	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.H642Y|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.H48Y|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.H58Y	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	656							nucleotide binding (GO:0000166)	p.H642Y(1)									CCAAGAATTTCATACTGAAGA	0.368																																					p.H642Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1924T	10						.						106.0	103.0	104.0					10																	99991407		2203	4300	6503	99981397	SO:0001583	missense	27291	exon5			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1924C>T	10.37:g.99991407C>T	ENSP00000298999:p.His642Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	99981397	NM_014472	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056907	0.55325	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);	0.082256	0.56097	D	0.000022	T	0.11239	0.0274	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22765	-1.0207	9	.	.	.	-6.3259	13.5977	0.62000	0.1556:0.8444:0.0:0.0	.	48;656;642	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	Y	642;642;48;58;49	ENSP00000359616:H642Y;ENSP00000298999:H642Y;ENSP00000359618:H48Y;ENSP00000314018:H58Y	.	H	+	1	0	C10orf28	99981397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.531000	0.53546	2.687000	0.91594	0.655000	0.94253	CAT		0.368	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	
SYCE1	93426	broad.mit.edu	37	10	135372383	135372383	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr10:135372383G>A	ENST00000343131.5	-	4	373	c.269C>T	c.(268-270)tCg>tTg	p.S90L	SYCE1_ENST00000368517.3_Missense_Mutation_p.S54L|SYCE1_ENST00000432597.2_Missense_Mutation_p.S54L|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	90					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.S54L(1)|p.S90L(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTCTTACGCGAGTCCAGTTC	0.527																																					p.S90L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C269T	10						.						67.0	59.0	61.0					10																	135372383		2203	4300	6503	135222373	SO:0001583	missense	93426	exon4			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.269C>T	10.37:g.135372383G>A	ENSP00000341282:p.Ser90Leu	Somatic		Capture	Illumina HiSeq	Phase_I	135222373	NM_001143764	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770054	0.15983	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.38	-0.849	0.10723	.	1.127090	0.06668	N	0.765758	T	0.34135	0.0887	L	0.61218	1.895	0.09310	N	1	B;B	0.14805	0.011;0.009	B;B	0.12156	0.006;0.007	T	0.35624	-0.9781	10	0.22109	T	0.4	-1.7209	9.6836	0.40085	0.3319:0.0:0.6681:0.0	.	90;54	Q8N0S2;Q8N0S2-2	SYCE1_HUMAN;.	L	90;54;54;90	ENSP00000303978:S90L;ENSP00000411779:S54L;ENSP00000357503:S54L;ENSP00000341282:S90L	ENSP00000303978:S90L	S	-	2	0	SYCE1	135222373	0.080000	0.21391	0.015000	0.15790	0.003000	0.03518	0.059000	0.14322	-0.132000	0.11557	-1.916000	0.00518	TCG		0.527	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564	
ADM	133	broad.mit.edu	37	11	10328153	10328154	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:10328153_10328154insC	ENST00000528655.1	+	3	1140_1141	c.523_524insC	c.(523-525)gccfs	p.A175fs	ADM_ENST00000534464.1_Frame_Shift_Ins_p.A128fs|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000530439.1_Frame_Shift_Ins_p.A107fs|ADM_ENST00000525063.1_Frame_Shift_Ins_p.A175fs|ADM_ENST00000278175.5_Frame_Shift_Ins_p.A175fs			P35318	ADML_HUMAN	adrenomedullin	175					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.S178fs*>9(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CGGGGCTCCAGCCCCCCCGAGT	0.678																																					p.A175fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.523_524insC	11						.			15,4077		0,15,2031						0.2	0.0			19	17,7905		0,17,3944	no	frameshift	ADM	NM_001124.1		0,32,5975	A1A1,A1R,RR		0.2146,0.3666,0.2664				32,11982				10284730	SO:0001589	frameshift_variant	133	exon4			D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.530dupC	11.37:g.10328160_10328160dupC	ENSP00000436607:p.Ala175fs	Somatic		Capture	Illumina HiSeq	Phase_I	10284729	NM_001124	B2R793|D3DQV3|Q6FGW2	Frame_Shift_Ins	INS	ENST00000528655.1	37	CCDS7801.1																																																																																				0.678	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124	
TMEM133	83935	broad.mit.edu	37	11	100863283	100863283	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:100863283C>T	ENST00000303130.2	+	1	473	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	82						integral component of membrane (GO:0016021)		p.R82C(1)		kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CCTGTTGATTCGCAGATGTAA	0.408																																					p.R82C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244T	11						.						178.0	168.0	171.0					11																	100863283		2203	4300	6503	100368493	SO:0001583	missense	83935	exon1			AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.244C>T	11.37:g.100863283C>T	ENSP00000303999:p.Arg82Cys	Somatic		Capture	Illumina HiSeq	Phase_I	100368493	NM_032021		Missense_Mutation	SNP	ENST00000303130.2	37	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	C	9.276	1.046828	0.19748	.	.	ENSG00000170647	ENST00000303130	.	.	.	4.59	1.06	0.20224	.	.	.	.	.	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	8	0.87932	D	0	.	7.6267	0.28216	0.0:0.7169:0.0:0.2831	.	82	Q9H2Q1	TM133_HUMAN	C	82	.	ENSP00000303999:R82C	R	+	1	0	TMEM133	100368493	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	0.147000	0.16202	0.179000	0.19938	0.655000	0.94253	CGC		0.408	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021	
ANGPTL5	253935	broad.mit.edu	37	11	101762245	101762245	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:101762245C>T	ENST00000334289.3	-	9	1527	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	311	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.R311H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GCATGCAGGGCGACACCCATC	0.438																																					p.R311H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932A	11						.						165.0	144.0	151.0					11																	101762245		2203	4299	6502	101267455	SO:0001583	missense	253935	exon9			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.932G>A	11.37:g.101762245C>T	ENSP00000335255:p.Arg311His	Somatic		Capture	Illumina HiSeq	Phase_I	101267455	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829714	0.16749	.	.	ENSG00000187151	ENST00000334289	T	0.81163	-1.46	5.2	-4.39	0.03611	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.575313	0.19644	N	0.109363	T	0.64864	0.2637	N	0.25144	0.715	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.43376	-0.9395	10	0.41790	T	0.15	.	14.2517	0.66023	0.0:0.3338:0.0:0.6662	.	311	Q86XS5	ANGL5_HUMAN	H	311	ENSP00000335255:R311H	ENSP00000335255:R311H	R	-	2	0	ANGPTL5	101267455	0.000000	0.05858	0.003000	0.11579	0.931000	0.56810	-1.516000	0.02250	-1.063000	0.03177	-0.320000	0.08662	CGC		0.438	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
KIAA1377	57562	broad.mit.edu	37	11	101833635	101833635	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:101833635T>C	ENST00000263468.8	+	6	2139	c.1869T>C	c.(1867-1869)atT>atC	p.I623I	KIAA1377_ENST00000537689.1_Silent_p.I424I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	623								p.I623I(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GTGCAGAAATTCCAAAGACCA	0.318																																					p.I623I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1869C	11						.						32.0	36.0	35.0					11																	101833635		2200	4295	6495	101338845	SO:0001819	synonymous_variant	57562	exon6			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1869T>C	11.37:g.101833635T>C		Somatic		Capture	Illumina HiSeq	Phase_I	101338845	NM_020802	Q4G0U6	Silent	SNP	ENST00000263468.8	37	CCDS31658.1																																																																																				0.318	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
MMP12	4321	broad.mit.edu	37	11	102742588	102742588	+	RNA	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:102742588A>C	ENST00000532855.1	-	0	541							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F149V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ATCTTGCTGAATTTCAAGGGG	0.413																																					p.F149V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T445G	11						.						82.0	79.0	80.0					11																	102742588		1898	4138	6036	102247798			4321	exon3			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742588A>C		Somatic		Capture	Illumina HiSeq	Phase_I	102247798	NM_002426	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.413	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
MMP12	4321	broad.mit.edu	37	11	102743826	102743826	+	RNA	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:102743826A>C	ENST00000532855.1	-	0	215							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F40C(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AAGGCCATAAAATTTTTCTAA	0.338																																					p.F40C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T119G	11						.						28.0	28.0	28.0					11																	102743826		1800	4064	5864	102249036			4321	exon2			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743826A>C		Somatic		Capture	Illumina HiSeq	Phase_I	102249036	NM_002426	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.338	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
DYNC2H1	79659	broad.mit.edu	37	11	102980358	102980358	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:102980358A>C	ENST00000375735.2	+	1	199	c.55A>C	c.(55-57)Aat>Cat	p.N19H	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.N19H|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N19H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	19	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N19H(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACTACCCAGAATTACTTCGG	0.517																																					p.N19H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A55C	11						.						70.0	67.0	68.0					11																	102980358		1896	4116	6012	102485568	SO:0001583	missense	79659	exon1			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.55A>C	11.37:g.102980358A>C	ENSP00000364887:p.Asn19His	Somatic		Capture	Illumina HiSeq	Phase_I	102485568	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608562	0.87258	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.34667	1.63;1.35;1.63	5.63	4.51	0.55191	.	0.315758	0.19449	U	0.113974	T	0.54919	0.1888	M	0.73598	2.24	0.45962	D	0.998781	D;P;P	0.69078	0.997;0.71;0.813	D;B;B	0.63192	0.912;0.219;0.41	T	0.57370	-0.7823	10	0.56958	D	0.05	.	10.7442	0.46170	0.9253:0.0:0.0747:0.0	.	19;19;19	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	H	19	ENSP00000364887:N19H;ENSP00000334021:N19H;ENSP00000381167:N19H	ENSP00000334021:N19H	N	+	1	0	DYNC2H1	102485568	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.863000	0.69568	2.137000	0.66172	0.482000	0.46254	AAT		0.517	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	102999642	102999642	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:102999642G>A	ENST00000375735.2	+	13	2005	c.1861G>A	c.(1861-1863)Gca>Aca	p.A621T	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.A621T|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A621T	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	621	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A621T(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTGTAGGTGGCACATTTTTA	0.259																																					p.A621T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1861A	11						.						51.0	50.0	51.0					11																	102999642		1795	4036	5831	102504852	SO:0001583	missense	79659	exon13			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1861G>A	11.37:g.102999642G>A	ENSP00000364887:p.Ala621Thr	Somatic		Capture	Illumina HiSeq	Phase_I	102504852	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902448	0.92035	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.56611	0.45;0.45;0.45	5.07	5.07	0.68467	Dynein heavy chain, domain-1 (1);	0.610322	0.14632	U	0.307759	T	0.76601	0.4010	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.87578	0.998;0.982;0.969	T	0.78373	-0.2229	10	0.59425	D	0.04	.	16.9925	0.86357	0.0:0.0:1.0:0.0	.	621;621;621	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	T	621	ENSP00000364887:A621T;ENSP00000334021:A621T;ENSP00000381167:A621T	ENSP00000334021:A621T	A	+	1	0	DYNC2H1	102504852	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.344000	0.97050	2.525000	0.85131	0.655000	0.94253	GCA		0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103070011	103070011	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:103070011G>A	ENST00000375735.2	+	49	8038	c.7894G>A	c.(7894-7896)Gaa>Aaa	p.E2632K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2632K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2632	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E65K(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTTTCCACGAAGTCTTGGA	0.368																																					p.E2632K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7894A	11						.						61.0	58.0	59.0					11																	103070011		1856	4094	5950	102575221	SO:0001583	missense	79659	exon49			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7894G>A	11.37:g.103070011G>A	ENSP00000364887:p.Glu2632Lys	Somatic		Capture	Illumina HiSeq	Phase_I	102575221	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321311	0.95682	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.44083	0.93;0.93	6.07	6.07	0.98685	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000003	T	0.72614	0.3482	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.75465	-0.3308	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2632;2632	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	K	2632	ENSP00000364887:E2632K;ENSP00000381167:E2632K	ENSP00000364887:E2632K	E	+	1	0	DYNC2H1	102575221	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.766000	0.98957	2.885000	0.99019	0.655000	0.94253	GAA		0.368	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DDI1	414301	broad.mit.edu	37	11	103908691	103908691	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:103908691G>T	ENST00000302259.3	+	1	1384	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	381							aspartic-type endopeptidase activity (GO:0004190)	p.D381Y(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGAGTCTTCGGACAAGGAAAT	0.483																																					p.D381Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1141T	11						.						57.0	58.0	57.0					11																	103908691		2202	4299	6501	103413901	SO:0001583	missense	414301	exon1				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1141G>T	11.37:g.103908691G>T	ENSP00000302805:p.Asp381Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	103413901	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	9.459	1.092553	0.20471	.	.	ENSG00000170967	ENST00000302259	T	0.25250	1.81	4.97	-1.26	0.09376	.	0.186877	0.43110	D	0.000614	T	0.40570	0.1122	M	0.79805	2.47	0.09310	N	1	D	0.67145	0.996	P	0.62813	0.907	T	0.19976	-1.0289	10	0.87932	D	0	-18.8234	4.7766	0.13182	0.442:0.1573:0.4007:0.0	.	381	Q8WTU0	DDI1_HUMAN	Y	381	ENSP00000302805:D381Y	ENSP00000302805:D381Y	D	+	1	0	DDI1	103413901	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.861000	0.27885	-0.087000	0.12528	-0.136000	0.14681	GAC		0.483	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
CASP5	838	broad.mit.edu	37	11	104871080	104871080	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:104871080A>C	ENST00000260315.3	-	6	859	c.860T>G	c.(859-861)cTt>cGt	p.L287R	CASP5_ENST00000531367.1_Missense_Mutation_p.L145R|CASP5_ENST00000444749.2_Missense_Mutation_p.L229R|CASP5_ENST00000418434.1_Missense_Mutation_p.L145R|CASP5_ENST00000393141.2_Missense_Mutation_p.L300R|CASP5_ENST00000526056.1_Missense_Mutation_p.L300R|CASP5_ENST00000393139.2_3'UTR			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	287					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.L271R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTGTCATAAAGCAGCACATC	0.488																																					p.L300R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T899G	11						.						222.0	195.0	204.0					11																	104871080		2202	4299	6501	104376290	SO:0001583	missense	838	exon6				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.860T>G	11.37:g.104871080A>C	ENSP00000260315:p.Leu287Arg	Somatic		Capture	Illumina HiSeq	Phase_I	104376290	NM_001136112	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	4.411	0.075962	0.08485	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.21	-4.18	0.03846	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.873109	0.10197	N	0.703870	T	0.07908	0.0198	N	0.11341	0.13	0.09310	N	1	B;B;B;B	0.16603	0.0;0.018;0.014;0.005	B;B;B;B	0.22386	0.007;0.022;0.03;0.039	T	0.37663	-0.9696	10	0.16420	T	0.52	.	3.7	0.08379	0.3808:0.0:0.2438:0.3754	.	145;229;287;300	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	R	300;145;287;229;300;145	ENSP00000376849:L300R;ENSP00000398130:L145R;ENSP00000260315:L287R;ENSP00000388365:L229R;ENSP00000436877:L300R;ENSP00000434471:L145R	ENSP00000260315:L287R	L	-	2	0	CASP5	104376290	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.011000	0.12721	-1.253000	0.02488	0.172000	0.16884	CTT		0.488	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
AMPD3	272	broad.mit.edu	37	11	10506493	10506493	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:10506493A>G	ENST00000396554.3	+	5	1084	c.743A>G	c.(742-744)gAg>gGg	p.E248G	AMPD3_ENST00000444303.2_Missense_Mutation_p.E80G	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	239					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.E248G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGATGCTGGAGCACCAGGAG	0.577																																					p.E239G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A716G	11						.						96.0	84.0	88.0					11																	10506493		2201	4294	6495	10463069	SO:0001583	missense	272	exon5			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.743A>G	11.37:g.10506493A>G	ENSP00000379802:p.Glu248Gly	Somatic		Capture	Illumina HiSeq	Phase_I	10463069	NM_001025389	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562463	0.45694	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.97	5.97	0.96955	.	0.452619	0.28572	N	0.014870	D	0.89068	0.6610	L	0.49126	1.545	0.36875	D	0.889117	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.86816	0.2001	10	0.41790	T	0.15	-28.7196	12.3172	0.54964	0.859:0.1409:0.0:0.0	.	246;239;248	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	G	80;248;239;239;246;239	ENSP00000396000:E80G;ENSP00000379802:E248G;ENSP00000433284:E239G;ENSP00000379801:E239G;ENSP00000436987:E246G;ENSP00000431648:E239G	ENSP00000379801:E239G	E	+	2	0	AMPD3	10463069	0.276000	0.24211	0.999000	0.59377	0.986000	0.74619	1.108000	0.31123	2.288000	0.76882	0.533000	0.62120	GAG		0.577	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480	
CASP1	834	broad.mit.edu	37	11	104900450	104900450	+	Missense_Mutation	SNP	C	C	A	rs202211771		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:104900450C>A	ENST00000533400.1	-	6	839	c.804G>T	c.(802-804)aaG>aaT	p.K268N	CASP1_ENST00000528974.1_Missense_Mutation_p.K229N|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000594519.1_Missense_Mutation_p.K175N|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.K247N|CASP1_ENST00000436863.3_Missense_Mutation_p.K268N|CASP1_ENST00000446369.1_Missense_Mutation_p.K175N|CASP1_ENST00000598974.1_Missense_Mutation_p.K268N|CASP1_ENST00000593315.1_Missense_Mutation_p.K247N|CASP1_ENST00000393136.4_Missense_Mutation_p.K247N|CASP1_ENST00000534497.1_Missense_Mutation_p.K175N|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.K231N|CASP1_ENST00000526568.1_Missense_Mutation_p.K175N	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	268					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.K268N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTGGGCAGTTCTTGGTATTCA	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		19319	0.0		0.001	False		,,,				2504	0.0				p.K268N	NSCLC(41;1246 1743 4934)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G804T	11						.						122.0	106.0	111.0					11																	104900450		2202	4299	6501	104405660	SO:0001583	missense	834	exon6			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.804G>T	11.37:g.104900450C>A	ENSP00000433138:p.Lys268Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104405660	NM_033292	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	10.91	1.485632	0.26686	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	4.69	-2.5	0.06384	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	2.563350	0.01662	N	0.025173	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B;B;P;B;B;B;B	0.35226	0.007;0.078;0.491;0.011;0.024;0.011;0.008	B;B;B;B;B;B;B	0.29524	0.015;0.037;0.103;0.009;0.015;0.009;0.005	T	0.09185	-1.0686	10	0.17832	T	0.49	.	1.4362	0.02344	0.2517:0.226:0.3529:0.1694	.	229;175;268;247;268;231;175	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	N	117;175;231;268;268;175;247;247;175;229	ENSP00000435536:K117N;ENSP00000434250:K175N;ENSP00000432340:K231N;ENSP00000433138:K268N;ENSP00000410076:K268N;ENSP00000403260:K175N;ENSP00000376844:K247N;ENSP00000434779:K247N;ENSP00000436875:K175N;ENSP00000434259:K229N	ENSP00000376844:K247N	K	-	3	2	CASP1	104405660	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	-0.947000	0.03901	-0.210000	0.10140	-0.328000	0.08392	AAG		0.448	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292	
GUCY1A2	2977	broad.mit.edu	37	11	106558280	106558280	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:106558280G>T	ENST00000526355.2	-	8	2662	c.2194C>A	c.(2194-2196)Ctc>Atc	p.L732I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L753I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L763I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	732					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.L732I(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AGGTCTCAGAGGCTTGTCTCC	0.488																																					p.L732I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2194A	11						.						135.0	133.0	133.0					11																	106558280		2201	4298	6499	106063490	SO:0001583	missense	2977	exon8			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2194C>A	11.37:g.106558280G>T	ENSP00000431245:p.Leu732Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106063490	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674111	0.47781	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89050	-2.01;-2.46;-2.02	5.31	5.31	0.75309	.	0.000000	0.39083	U	0.001470	T	0.81479	0.4831	N	0.24115	0.695	0.39900	D	0.973888	P;P;P	0.40431	0.595;0.717;0.595	B;B;B	0.37198	0.123;0.243;0.123	D	0.83465	0.0056	10	0.45353	T	0.12	.	14.0005	0.64431	0.0:0.1514:0.8486:0.0	.	753;763;732	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	I	732;763;753	ENSP00000431245:L732I;ENSP00000282249:L763I;ENSP00000344874:L753I	ENSP00000282249:L763I	L	-	1	0	GUCY1A2	106063490	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.809000	0.47971	2.654000	0.90174	0.305000	0.20034	CTC		0.488	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GUCY1A2	2977	broad.mit.edu	37	11	106680722	106680722	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:106680722A>G	ENST00000526355.2	-	5	2157	c.1689T>C	c.(1687-1689)taT>taC	p.Y563Y	GUCY1A2_ENST00000347596.2_Silent_p.Y584Y|GUCY1A2_ENST00000282249.2_Silent_p.Y563Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	563	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.Y563Y(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCCTTACCTTATAAATATCCA	0.313																																					p.Y563Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1689C	11						.						41.0	43.0	42.0					11																	106680722		2201	4298	6499	106185932	SO:0001819	synonymous_variant	2977	exon5			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1689T>C	11.37:g.106680722A>G		Somatic		Capture	Illumina HiSeq	Phase_I	106185932	NM_000855	A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	CCDS8335.1																																																																																				0.313	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GUCY1A2	2977	broad.mit.edu	37	11	106680926	106680926	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:106680926A>C	ENST00000526355.2	-	5	1953	c.1485T>G	c.(1483-1485)taT>taG	p.Y495*	GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.Y516*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.Y495*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	495					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.Y495*(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGAAAATAGAATATAGAAGAT	0.413																																					p.Y495X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1485G	11						.						114.0	115.0	115.0					11																	106680926		2201	4298	6499	106186136	SO:0001587	stop_gained	2977	exon5			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1485T>G	11.37:g.106680926A>C	ENSP00000431245:p.Tyr495*	Somatic		Capture	Illumina HiSeq	Phase_I	106186136	NM_000855	A1L4C4|B7ZLT5	Nonsense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	A	40	8.317951	0.98757	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.47	0.165	0.14995	.	0.451457	0.15759	U	0.246003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.751	0.34616	0.6513:0.0:0.3487:0.0	.	.	.	.	X	495;495;516	.	ENSP00000282249:Y495X	Y	-	3	2	GUCY1A2	106186136	0.994000	0.37717	0.888000	0.34837	0.985000	0.73830	0.533000	0.23082	-0.228000	0.09869	0.528000	0.53228	TAT		0.413	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GUCY1A2	2977	broad.mit.edu	37	11	106810832	106810832	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:106810832C>A	ENST00000526355.2	-	4	1028	c.560G>T	c.(559-561)aGa>aTa	p.R187I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R187I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R187I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	187					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.R187I(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TCGAAGGACTCTCTCATTCTC	0.383																																					p.R187I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G560T	11						.						57.0	65.0	63.0					11																	106810832		2201	4298	6499	106316042	SO:0001583	missense	2977	exon4			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.560G>T	11.37:g.106810832C>A	ENSP00000431245:p.Arg187Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106316042	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134965	0.77662	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.42513	0.97;0.97;0.97	5.17	5.17	0.71159	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.47455	U	0.000232	T	0.63462	0.2513	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.997;0.981;0.999	D;P;D	0.87578	0.967;0.888;0.998	T	0.66404	-0.5932	10	0.72032	D	0.01	.	17.6474	0.88152	0.0:1.0:0.0:0.0	.	187;187;187	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	I	187	ENSP00000431245:R187I;ENSP00000282249:R187I;ENSP00000344874:R187I	ENSP00000282249:R187I	R	-	2	0	GUCY1A2	106316042	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	7.725000	0.84808	2.400000	0.81607	0.591000	0.81541	AGA		0.383	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
CWF19L2	143884	broad.mit.edu	37	11	107299728	107299728	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:107299728C>A	ENST00000282251.5	-	8	1257	c.1230G>T	c.(1228-1230)aaG>aaT	p.K410N	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K410N	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	410							catalytic activity (GO:0003824)	p.K256N(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTTCACTGTTCTTGGTGGGTT	0.423																																					p.K410N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1230T	11						.						160.0	156.0	158.0					11																	107299728		2201	4298	6499	106804938	SO:0001583	missense	143884	exon8			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1230G>T	11.37:g.107299728C>A	ENSP00000282251:p.Lys410Asn	Somatic		Capture	Illumina HiSeq	Phase_I	106804938	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	5.193	0.221136	0.09863	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.21734	1.99;1.99	5.54	-3.54	0.04653	.	0.662168	0.16444	N	0.214182	T	0.09202	0.0227	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.17107	-1.0380	10	0.46703	T	0.11	-11.5856	6.0271	0.19660	0.0:0.3371:0.2319:0.4311	.	410	Q2TBE0	C19L2_HUMAN	N	410	ENSP00000282251:K410N;ENSP00000387533:K410N	ENSP00000282251:K410N	K	-	3	2	CWF19L2	106804938	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.600000	0.02083	-0.435000	0.07264	0.591000	0.81541	AAG		0.423	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
ATM	472	broad.mit.edu	37	11	108129800	108129800	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:108129800T>G	ENST00000452508.2	+	17	2653	c.2464T>G	c.(2464-2466)Tta>Gta	p.L822V	ATM_ENST00000278616.4_Missense_Mutation_p.L822V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	822					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L822V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGTAAAAGTTTAGTAAGTAT	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L822V		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2464G	11	GRCh37	CD961797	ATM	D		.						121.0	115.0	117.0					11																	108129800		2201	4297	6498	107635010	SO:0001583	missense	472	exon16	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2464T>G	11.37:g.108129800T>G	ENSP00000388058:p.Leu822Val	Somatic		Capture	Illumina HiSeq	Phase_I	107635010	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853530	0.51270	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.77750	-1.12;-1.12;-1.12	5.8	2.19	0.27852	Armadillo-type fold (1);	0.232964	0.35708	N	0.003027	T	0.77025	0.4070	M	0.71581	2.175	0.31863	N	0.620783	D	0.59357	0.985	P	0.48921	0.595	T	0.77236	-0.2662	10	0.40728	T	0.16	.	7.947	0.29993	0.0:0.3391:0.0:0.6609	.	822	Q13315	ATM_HUMAN	V	822	ENSP00000435747:L822V;ENSP00000278616:L822V;ENSP00000388058:L822V	ENSP00000278616:L822V	L	+	1	2	ATM	107635010	1.000000	0.71417	0.949000	0.38748	0.374000	0.29953	1.957000	0.40392	0.432000	0.26286	0.533000	0.62120	TTA		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108205711	108205711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:108205711G>T	ENST00000452508.2	+	56	8215	c.8026G>T	c.(8026-8028)Gaa>Taa	p.E2676*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.E2676*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2676					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2676*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCACACAGGAGAATATGGAAA	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.E2676X		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8026T	11						.						79.0	78.0	79.0					11																	108205711		2201	4298	6499	107710921	SO:0001587	stop_gained	472	exon55	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8026G>T	11.37:g.108205711G>T	ENSP00000388058:p.Glu2676*	Somatic		Capture	Illumina HiSeq	Phase_I	107710921	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	49	15.807250	0.99845	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.67	3.8	0.43715	.	0.457832	0.25668	N	0.029094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	3.5823	0.07958	0.3321:0.1855:0.4824:0.0	.	.	.	.	X	2676	.	ENSP00000278616:E2676X	E	+	1	0	ATM	107710921	0.998000	0.40836	0.994000	0.49952	0.947000	0.59692	1.044000	0.30329	1.403000	0.46800	0.655000	0.94253	GAA		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ZC3H12C	85463	broad.mit.edu	37	11	110023657	110023657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:110023657G>T	ENST00000278590.3	+	3	838	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.E264*|ZC3H12C_ENST00000453089.2_Nonsense_Mutation_p.E232*	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	263							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E263*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGGAAACAAAGAAGTATTTTC	0.328																																					p.E263X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G787T	11						.						55.0	51.0	52.0					11																	110023657		1807	4071	5878	109528867	SO:0001587	stop_gained	85463	exon3				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.787G>T	11.37:g.110023657G>T	ENSP00000278590:p.Glu263*	Somatic		Capture	Illumina HiSeq	Phase_I	109528867	NM_033390	B4DI65|B4DR47	Nonsense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	46	12.662954	0.99686	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-28.9191	20.1864	0.98220	0.0:0.0:1.0:0.0	.	.	.	.	X	263;264;232	.	ENSP00000278590:E263X	E	+	1	0	ZC3H12C	109528867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.781000	0.95711	0.650000	0.86243	GAA		0.328	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
TTC12	54970	broad.mit.edu	37	11	113205735	113205735	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:113205735C>T	ENST00000529221.1	+	8	657	c.552C>T	c.(550-552)aaC>aaT	p.N184N	TTC12_ENST00000393020.1_Silent_p.N184N|TTC12_ENST00000483239.2_Silent_p.N190N|TTC12_ENST00000314756.3_Silent_p.N184N	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	184								p.N184N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAAAGCCAACCTGGCCCTGA	0.398																																					p.N184N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	11						.						110.0	102.0	105.0					11																	113205735		2201	4296	6497	112710945	SO:0001819	synonymous_variant	54970	exon8			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.552C>T	11.37:g.113205735C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112710945	NM_017868	Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	CCDS8360.2																																																																																				0.398	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868	
DRD2	1813	broad.mit.edu	37	11	113283435	113283435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:113283435C>A	ENST00000362072.3	-	7	1325	c.981G>T	c.(979-981)aaG>aaT	p.K327N	DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.K327N|DRD2_ENST00000538967.1_Missense_Mutation_p.K329N|DRD2_ENST00000544518.1_Missense_Mutation_p.K326N|DRD2_ENST00000355319.2_Missense_Mutation_p.K329N|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.K298N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	327	Interaction with PPP1R9B. {ECO:0000250}.		K -> E (in dbSNP:rs71653614). {ECO:0000269|PubMed:21179162}.		activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.K327N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CATGCCCATTCTTCTCTGGTT	0.597																																					p.K327N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G981T	11						.						141.0	119.0	126.0					11																	113283435		2201	4296	6497	112788645	SO:0001583	missense	1813	exon7			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.981G>T	11.37:g.113283435C>A	ENSP00000354859:p.Lys327Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112788645	NM_000795	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971334	0.53614	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.73152	-0.67;-0.72;-0.67;-0.71;-0.67;-0.67	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.081650	0.85682	D	0.000000	T	0.64046	0.2563	L	0.28694	0.88	0.58432	D	0.999999	B;B;B	0.27068	0.079;0.03;0.167	B;B;B	0.30572	0.071;0.02;0.117	T	0.56798	-0.7919	10	0.23302	T	0.38	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	326;298;327	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	N	329;298;327;326;327;329	ENSP00000347474:K329N;ENSP00000278597:K298N;ENSP00000354859:K327N;ENSP00000441068:K326N;ENSP00000442172:K327N;ENSP00000438215:K329N	ENSP00000278597:K298N	K	-	3	2	DRD2	112788645	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.110000	0.50352	2.837000	0.97791	0.655000	0.94253	AAG		0.597	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	
TMPRSS5	80975	broad.mit.edu	37	11	113560558	113560558	+	Missense_Mutation	SNP	C	C	T	rs375329875		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:113560558C>T	ENST00000299882.5	-	12	1436	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.A171T|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.A317T|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.A386T|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.A361T|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.A421T	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	430	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.A430T(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		TTGGGCTCTGCGCAGCCACGC	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		14940	0.001		0.0	False		,,,				2504	0.0				p.A430T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	11						.		THR/ALA	1,4003		0,1,2001	26.0	29.0	28.0		1288	4.2	0.7	11		28	0,8308		0,0,4154	no	missense	TMPRSS5	NM_030770.2	58	0,1,6155	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	430/458	113560558	1,12311	2002	4154	6156	113065768	SO:0001583	missense	80975	exon12			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1288G>A	11.37:g.113560558C>T	ENSP00000299882:p.Ala430Thr	Somatic		Capture	Illumina HiSeq	Phase_I	113065768	NM_030770		Missense_Mutation	SNP	ENST00000299882.5	37	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.130977	0.56828	2.5E-4	0.0	ENSG00000166682	ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T;T	0.62639	0.09;0.01;0.01;0.01;0.09;0.09	4.22	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.089673	0.42548	U	0.000688	T	0.76011	0.3928	M	0.76328	2.33	0.36301	D	0.857039	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.989;0.999	T	0.81990	-0.0679	10	0.87932	D	0	.	10.2241	0.43214	0.0:0.9022:0.0:0.0978	.	361;421;430	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	T	171;430;421;386;361;317	ENSP00000437761:A171T;ENSP00000299882:A430T;ENSP00000441104:A421T;ENSP00000445528:A386T;ENSP00000440783:A361T;ENSP00000445930:A317T	ENSP00000299882:A430T	A	-	1	0	TMPRSS5	113065768	0.999000	0.42202	0.682000	0.30024	0.022000	0.10575	4.616000	0.61197	2.354000	0.79902	0.479000	0.44913	GCA		0.637	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770	
GALNT18	374378	broad.mit.edu	37	11	11400660	11400660	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:11400660G>T	ENST00000227756.4	-	4	1158	c.747C>A	c.(745-747)ctC>ctA	p.L249L		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	249	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L249L(1)									GGGCATCAAAGAGTGCCACCA	0.602																																					p.L249L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C747A	11						.						65.0	56.0	59.0					11																	11400660		2201	4294	6495	11357236	SO:0001819	synonymous_variant	374378	exon4			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.747C>A	11.37:g.11400660G>T		Somatic		Capture	Illumina HiSeq	Phase_I	11357236	NM_198516	O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	CCDS7807.1																																																																																				0.602	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
ZBTB16	7704	broad.mit.edu	37	11	113935122	113935122	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:113935122A>C	ENST00000335953.4	+	2	1480	c.1100A>C	c.(1099-1101)gAc>gCc	p.D367A	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D367A	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	367					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D367A(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTCTCCATGGACTTCAGCACC	0.622																																					p.D367A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1100C	11						.						56.0	58.0	57.0					11																	113935122		2201	4296	6497	113440332	SO:0001583	missense	7704	exon2			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1100A>C	11.37:g.113935122A>C	ENSP00000338157:p.Asp367Ala	Somatic		Capture	Illumina HiSeq	Phase_I	113440332	NM_006006	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046903	0.75846	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.15256	2.44;2.44	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	L	0.27053	0.805	0.80722	D	1	P;D	0.89917	0.884;1.0	B;D	0.80764	0.355;0.994	T	0.05484	-1.0882	10	0.72032	D	0.01	-17.7069	15.2183	0.73288	1.0:0.0:0.0:0.0	.	367;372	Q05516;Q59H43	ZBT16_HUMAN;.	A	367	ENSP00000338157:D367A;ENSP00000376721:D367A	ENSP00000338157:D367A	D	+	2	0	ZBTB16	113440332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.635000	0.91006	2.180000	0.69256	0.460000	0.39030	GAC		0.622	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006	
NXPE4	54827	broad.mit.edu	37	11	114452476	114452476	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:114452476A>C	ENST00000375478.3	-	4	1043	c.863T>G	c.(862-864)tTc>tGc	p.F288C	NXPE4_ENST00000424261.2_Missense_Mutation_p.F4C	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	288						extracellular vesicular exosome (GO:0070062)		p.F288C(1)									AATTGTATTGAATTTTTCCAT	0.378																																					p.F4C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11G	11						.						132.0	126.0	128.0					11																	114452476		1877	4105	5982	113957686	SO:0001583	missense	54827	exon4			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.863T>G	11.37:g.114452476A>C	ENSP00000364627:p.Phe288Cys	Somatic		Capture	Illumina HiSeq	Phase_I	113957686	NM_017678	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008953	0.35415	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.16324	2.35;2.73	4.69	1.09	0.20402	.	0.590181	0.15028	N	0.284648	T	0.30947	0.0781	M	0.68317	2.08	0.09310	N	1	D	0.67145	0.996	D	0.63033	0.91	T	0.08827	-1.0703	10	0.38643	T	0.18	.	7.4356	0.27154	0.7315:0.0:0.2685:0.0	.	288	Q6UWF7	FA55D_HUMAN	C	4;288	ENSP00000401503:F4C;ENSP00000364627:F288C	ENSP00000364627:F288C	F	-	2	0	FAM55D	113957686	0.013000	0.17824	0.017000	0.16124	0.721000	0.41392	1.679000	0.37597	-0.007000	0.14345	0.460000	0.39030	TTC		0.378	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
NXPE4	54827	broad.mit.edu	37	11	114453615	114453615	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:114453615G>T	ENST00000375478.3	-	3	405	c.225C>A	c.(223-225)atC>atA	p.I75I	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	75						extracellular vesicular exosome (GO:0070062)		p.I75I(1)									GTTTCTCTATGATTTCCTTTA	0.473																																					p.I75I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225A	11						.						301.0	290.0	294.0					11																	114453615		2047	4198	6245	113958825	SO:0001819	synonymous_variant	54827	exon3			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.225C>A	11.37:g.114453615G>T		Somatic		Capture	Illumina HiSeq	Phase_I	113958825	NM_001077639	Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	CCDS41718.1																																																																																				0.473	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
DSCAML1	57453	broad.mit.edu	37	11	117308735	117308735	+	Silent	SNP	G	G	A	rs2305824	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:117308735G>A	ENST00000321322.6	-	25	4489	c.4488C>T	c.(4486-4488)agC>agT	p.S1496S	DSCAML1_ENST00000527706.1_Silent_p.S1226S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1436	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S1496S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGAGCGCTCGCTGGAGCTGA	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		17219	0.002		0.0	False		,,,				2504	0.0				p.S1496S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4488T	11						.						109.0	79.0	89.0					11																	117308735		2201	4296	6497	116813945	SO:0001819	synonymous_variant	57453	exon25				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4488C>T	11.37:g.117308735G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116813945	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
DSCAML1	57453	broad.mit.edu	37	11	117387194	117387194	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:117387194C>T	ENST00000321322.6	-	8	1952	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V381I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	591	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V651I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGACGGCTACGTGAACGCTC	0.622																																					p.V651I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1951A	11						.						94.0	76.0	82.0					11																	117387194		2201	4296	6497	116892404	SO:0001583	missense	57453	exon8				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1951G>A	11.37:g.117387194C>T	ENSP00000315465:p.Val651Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116892404	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066570	0.36470	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.79033	-1.23;-1.23	3.95	3.95	0.45737	Immunoglobulin-like fold (1);	.	.	.	.	T	0.75715	0.3887	M	0.64630	1.985	0.58432	D	0.999995	B	0.26002	0.139	B	0.28385	0.089	T	0.73646	-0.3917	9	0.30078	T	0.28	.	16.528	0.84336	0.0:1.0:0.0:0.0	.	591	Q8TD84	DSCL1_HUMAN	I	381;651;358	ENSP00000434335:V381I;ENSP00000315465:V651I	ENSP00000315465:V651I	V	-	1	0	DSCAML1	116892404	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	5.849000	0.69465	2.202000	0.70862	0.462000	0.41574	GTA		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
FXYD6	53826	broad.mit.edu	37	11	117710523	117710523	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:117710523C>A	ENST00000526014.1	-	7	877	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FXYD6_ENST00000530956.1_Missense_Mutation_p.E94D|FXYD6_ENST00000529335.2_Missense_Mutation_p.R85I|FXYD6_ENST00000584394.1_Nonsense_Mutation_p.E78*|FXYD6_ENST00000260282.4_Missense_Mutation_p.E94D|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000583233.1_5'UTR|RP11-728F11.4_ENST00000525260.1_RNA|FXYD6_ENST00000527717.1_Missense_Mutation_p.E94D|FXYD6_ENST00000527429.1_3'UTR|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.R82I|FXYD6_ENST00000540359.1_Missense_Mutation_p.E94D|FXYD6_ENST00000524656.1_Missense_Mutation_p.E94D|RP11-728F11.4_ENST00000534150.1_RNA|FXYD6_ENST00000539526.1_Missense_Mutation_p.E94D	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6	94					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)	p.E94D(1)		central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		CACTTCAGTTCTCTGCTTTCT	0.567																																					p.E94D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G282T	11						.						199.0	171.0	180.0					11																	117710523		2201	4296	6497	117215733	SO:0001583	missense	53826	exon8			BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.282G>T	11.37:g.117710523C>A	ENSP00000433312:p.Glu94Asp	Somatic		Capture	Illumina HiSeq	Phase_I	117215733	NM_001164837	A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Missense_Mutation	SNP	ENST00000526014.1	37	CCDS8387.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.349988|4.349988	0.82132|0.82132	.|.	.|.	ENSG00000137726|ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656|ENST00000529335	T;T;T;T;T;T|T	0.66638|0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22|-0.22	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|T	0.73885|0.73885	0.3644|0.3644	.|.	.|.	.|.	0.51767|0.51767	D|D	0.999932|0.999932	B|.	0.24483|.	0.104|.	B|.	0.22386|.	0.039|.	T|T	0.72334|0.72334	-0.4325|-0.4325	8|6	0.51188|0.37606	T|T	0.08|0.19	.|.	14.4832|14.4832	0.67597|0.67597	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	94|.	Q9H0Q3|.	FXYD6_HUMAN|.	D|I	94|85	ENSP00000444243:E94D;ENSP00000442756:E94D;ENSP00000260282:E94D;ENSP00000431446:E94D;ENSP00000433312:E94D;ENSP00000431427:E94D|ENSP00000436629:R85I	ENSP00000260282:E94D|ENSP00000436629:R85I	E|R	-|-	3|2	2|0	FXYD6|FXYD6	117215733|117215733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	2.581000|2.581000	0.46077|0.46077	2.566000|2.566000	0.86566|0.86566	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.567	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	NM_022003	
KMT2A	4297	broad.mit.edu	37	11	118373666	118373666	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:118373666C>A	ENST00000389506.5	+	27	7050	c.7050C>A	c.(7048-7050)tcC>tcA	p.S2350S	KMT2A_ENST00000534358.1_Silent_p.S2353S|KMT2A_ENST00000354520.4_Silent_p.S2312S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2350					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.S2350S(1)									AAATCGGCTCCTTTGCTGAAC	0.468																																					p.S2350S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7050A	11						.						116.0	124.0	122.0					11																	118373666		2200	4296	6496	117878876	SO:0001819	synonymous_variant	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7050C>A	11.37:g.118373666C>A		Somatic		Capture	Illumina HiSeq	Phase_I	117878876	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
ARCN1	372	broad.mit.edu	37	11	118464370	118464370	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:118464370G>T	ENST00000264028.4	+	8	1293	c.1198G>T	c.(1198-1200)Gat>Tat	p.D400Y	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.D441Y|RNU6-1157P_ENST00000384456.1_RNA|ARCN1_ENST00000392859.3_Missense_Mutation_p.D312Y	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	400	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.D400Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCTACAAGAAGATAATTTAGA	0.433																																					p.D312Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934T	11						.						124.0	105.0	112.0					11																	118464370		2200	4295	6495	117969580	SO:0001583	missense	372	exon7			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1198G>T	11.37:g.118464370G>T	ENSP00000264028:p.Asp400Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	117969580	NM_001142281	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215344	0.79352	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.24723	1.84;1.84;1.84	5.95	5.95	0.96441	Clathrin adaptor, mu subunit, C-terminal (3);	0.280749	0.44902	D	0.000409	T	0.40196	0.1107	M	0.66939	2.045	0.80722	D	1	B;P;B	0.38129	0.083;0.619;0.116	B;B;B	0.43575	0.241;0.424;0.299	T	0.15809	-1.0424	10	0.66056	D	0.02	-6.8658	20.3789	0.98926	0.0:0.0:1.0:0.0	.	312;441;400	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	Y	312;441;400	ENSP00000376599:D312Y;ENSP00000352385:D441Y;ENSP00000264028:D400Y	ENSP00000264028:D400Y	D	+	1	0	ARCN1	117969580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.417000	0.97391	2.826000	0.97356	0.563000	0.77884	GAT		0.433	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1		
PHLDB1	23187	broad.mit.edu	37	11	118486784	118486784	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:118486784A>G	ENST00000361417.2	+	5	624	c.213A>G	c.(211-213)agA>agG	p.R71R	PHLDB1_ENST00000356063.5_Silent_p.R71R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	71	FHA.							p.R71R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGCAGCCAGAGACATCTCAC	0.612																																					p.R71R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A213G	11						.						101.0	92.0	95.0					11																	118486784		2200	4295	6495	117991994	SO:0001819	synonymous_variant	23187	exon4				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.213A>G	11.37:g.118486784A>G		Somatic		Capture	Illumina HiSeq	Phase_I	117991994	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	CCDS8401.1																																																																																				0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
TRAPPC4	51399	broad.mit.edu	37	11	118892543	118892543	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:118892543T>G	ENST00000533632.1	+	4	892	c.528T>G	c.(526-528)atT>atG	p.I176M	TRAPPC4_ENST00000359005.4_Intron|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.I176M|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.I83M|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.I133M|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.I122M|SLC37A4_ENST00000525102.1_5'Flank|TRAPPC4_ENST00000526141.1_3'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	176					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)		p.I176M(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTTATGAGATTTACTCAGACT	0.443																																					p.I176M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T528G	11						.						116.0	117.0	117.0					11																	118892543		2200	4295	6495	118397753	SO:0001583	missense	51399	exon4			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.528T>G	11.37:g.118892543T>G	ENSP00000436005:p.Ile176Met	Somatic		Capture	Illumina HiSeq	Phase_I	118397753	NM_016146	A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317500	0.60524	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000525303;ENST00000434101;ENST00000533058	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.92	2.38	0.29361	Longin-like (1);	0.063557	0.85682	D	0.000000	T	0.47746	0.1462	L	0.58101	1.795	0.58432	D	0.999997	P;P	0.44260	0.752;0.83	P;B	0.48921	0.595;0.38	T	0.43343	-0.9397	10	0.72032	D	0.01	-11.242	5.546	0.17063	0.0:0.2725:0.1349:0.5925	.	122;176	B4DME1;Q9Y296	.;TPPC4_HUMAN	M	176;133;83;122;176	ENSP00000436005:I176M;ENSP00000436827:I133M;ENSP00000435339:I83M;ENSP00000405033:I122M;ENSP00000432920:I176M	ENSP00000405033:I122M	I	+	3	3	TRAPPC4	118397753	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.252000	0.32874	0.492000	0.27815	-0.290000	0.09829	ATT		0.443	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	
HMBS	3145	broad.mit.edu	37	11	118963199	118963199	+	Missense_Mutation	SNP	G	G	A	rs201909197		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:118963199G>A	ENST00000278715.3	+	11	888	c.737G>A	c.(736-738)cGc>cAc	p.R246H	HMBS_ENST00000544387.1_Intron|HMBS_ENST00000537841.1_Missense_Mutation_p.R229H|HMBS_ENST00000542729.1_Intron|HMBS_ENST00000543090.1_Missense_Mutation_p.R215H|HMBS_ENST00000392841.1_Missense_Mutation_p.R229H|HMBS_ENST00000442944.2_Missense_Mutation_p.R229H	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	246					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)	p.R246H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		ACTCTGCTTCGCTGCATCGCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.001		0.0	False		,,,				2504	0.0				p.R246H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G737A	11						.	G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	112.0	107.0	108.0		737,686	5.2	1.0	11		108	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	HMBS	NM_000190.3,NM_001024382.1	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	246/362,229/345	118963199	1,12989	2200	4295	6495	118468409	SO:0001583	missense	3145	exon11			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.737G>A	11.37:g.118963199G>A	ENSP00000278715:p.Arg246His	Somatic		Capture	Illumina HiSeq	Phase_I	118468409	NM_000190	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	CCDS8409.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.720216	0.96839	0.0	1.16E-4	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000543090;ENST00000392841;ENST00000442944	D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81	5.24	5.24	0.73138	Porphobilinogen deaminase, C-terminal (3);	0.217000	0.49305	D	0.000148	D	0.98912	0.9631	M	0.88105	2.93	0.80722	D	1	D;D	0.59767	0.983;0.986	P;P	0.59761	0.685;0.863	D	0.99712	1.1007	10	0.87932	D	0	-0.105	17.9796	0.89137	0.0:0.0:1.0:0.0	.	215;246	F5H345;P08397	.;HEM3_HUMAN	H	246;229;215;229;229	ENSP00000278715:R246H;ENSP00000444730:R229H;ENSP00000445429:R215H;ENSP00000376584:R229H;ENSP00000392041:R229H	ENSP00000392041:R229H	R	+	2	0	CTD-2589C9.4;HMBS	118468409	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.610000	0.98337	2.710000	0.92621	0.655000	0.94253	CGC		0.607	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	
USP47	55031	broad.mit.edu	37	11	11963957	11963957	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:11963957C>T	ENST00000399455.2	+	21	2569	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R797W|USP47_ENST00000339865.5_Missense_Mutation_p.R729W	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	817					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R729W(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ACTCCTGGATCGGCATGCAAA	0.413																																					p.R729W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2185T	11						.						123.0	113.0	116.0					11																	11963957		1844	4079	5923	11920533	SO:0001583	missense	55031	exon19			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2449C>T	11.37:g.11963957C>T	ENSP00000382382:p.Arg817Trp	Somatic		Capture	Illumina HiSeq	Phase_I	11920533	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.643686	0.87859	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000540365	T;T;T	0.04809	3.56;3.56;3.55	5.81	5.81	0.92471	.	0.160627	0.56097	D	0.000022	T	0.14527	0.0351	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.976;0.967;0.985	T	0.00992	-1.1488	10	0.62326	D	0.03	.	19.6863	0.95981	0.0:1.0:0.0:0.0	.	817;797;729	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	W	729;797;817;14	ENSP00000339957:R729W;ENSP00000433146:R797W;ENSP00000382382:R817W	ENSP00000339957:R729W	R	+	1	2	USP47	11920533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	CGG		0.413	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
ABCG4	64137	broad.mit.edu	37	11	119027114	119027114	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:119027114C>A	ENST00000449422.2	+	7	950	c.762C>A	c.(760-762)atC>atA	p.I254I	ABCG4_ENST00000307417.3_Silent_p.I254I|ABCG4_ENST00000531739.1_Silent_p.I254I	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	254	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I254I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTACCATCATCTGCACCATCC	0.577																																					p.I254I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C762A	11						.						154.0	146.0	149.0					11																	119027114		2200	4295	6495	118532324	SO:0001819	synonymous_variant	64137	exon7			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.762C>A	11.37:g.119027114C>A		Somatic		Capture	Illumina HiSeq	Phase_I	118532324	NM_001142505	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	CCDS8415.1																																																																																				0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	
ARHGEF12	23365	broad.mit.edu	37	11	120319003	120319003	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:120319003G>A	ENST00000397843.2	+	20	1849	c.1683G>A	c.(1681-1683)gaG>gaA	p.E561E	ARHGEF12_ENST00000532993.1_Silent_p.E458E|ARHGEF12_ENST00000356641.3_Silent_p.E542E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	561					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E561E(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGTGAAAGAGCCTCGAAATT	0.403			T	MLL	AML																																p.E542E			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1626A	11						.						93.0	92.0	92.0					11																	120319003		1864	4094	5958	119824213	SO:0001819	synonymous_variant	23365	exon19			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1683G>A	11.37:g.120319003G>A		Somatic		Capture	Illumina HiSeq	Phase_I	119824213	NM_001198665	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.403	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
GRIK4	2900	broad.mit.edu	37	11	120776092	120776092	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:120776092G>A	ENST00000527524.2	+	13	1653	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	GRIK4_ENST00000438375.2_Missense_Mutation_p.A456T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	456					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A456T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAAGGAGCTGGCAGAGATCCT	0.582																																					p.A456T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1366A	11						.						170.0	167.0	168.0					11																	120776092		2203	4299	6502	120281302	SO:0001583	missense	2900	exon11			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1366G>A	11.37:g.120776092G>A	ENSP00000435648:p.Ala456Thr	Somatic		Capture	Illumina HiSeq	Phase_I	120281302	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695564	0.88830	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.81659	-1.52;-1.52	5.47	4.47	0.54385	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.052820	0.85682	D	0.000000	D	0.90448	0.7009	M	0.86953	2.85	0.58432	D	0.999995	D;D	0.65815	0.985;0.995	D;D	0.69479	0.938;0.964	D	0.92212	0.5777	10	0.87932	D	0	.	16.9398	0.86215	0.0:0.0:0.8635:0.1365	.	456;456	A6H8K8;Q16099	.;GRIK4_HUMAN	T	456	ENSP00000435648:A456T;ENSP00000404063:A456T	ENSP00000404063:A456T	A	+	1	0	GRIK4	120281302	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.449000	0.66619	2.561000	0.86390	0.655000	0.94253	GCA		0.582	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
GRIK4	2900	broad.mit.edu	37	11	120833230	120833230	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:120833230C>T	ENST00000527524.2	+	18	2393	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	GRIK4_ENST00000438375.2_Silent_p.F702F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	702					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.F702F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCAGCGTGTTCGTGAAGAGCA	0.502																																					p.F702F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2106T	11						.						77.0	69.0	72.0					11																	120833230		2203	4299	6502	120338440	SO:0001819	synonymous_variant	2900	exon16			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2106C>T	11.37:g.120833230C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120338440	NM_014619	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
TECTA	7007	broad.mit.edu	37	11	120996244	120996244	+	Silent	SNP	G	G	A	rs140634094		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:120996244G>A	ENST00000392793.1	+	8	1708	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	TECTA_ENST00000264037.2_Silent_p.P479P			O75443	TECTA_HUMAN	tectorin alpha	479	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P479P(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGCAGGCCGGCCATGTCTG	0.577																																					p.P479P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1437A	11						.	G		2,4404	4.2+/-10.8	0,2,2201	79.0	87.0	84.0		1437	-10.0	0.1	11	dbSNP_134	84	0,8598		0,0,4299	no	coding-synonymous	TECTA	NM_005422.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		479/2156	120996244	2,13002	2203	4299	6502	120501454	SO:0001819	synonymous_variant	7007	exon7			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1437G>A	11.37:g.120996244G>A		Somatic		Capture	Illumina HiSeq	Phase_I	120501454	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SC5D	6309	broad.mit.edu	37	11	121174258	121174258	+	Silent	SNP	C	C	T	rs200792246		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:121174258C>T	ENST00000392789.2	+	2	411	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SC5D_ENST00000534230.1_Silent_p.F58F|SC5D_ENST00000264027.4_Silent_p.F58F	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	58					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.F58F(1)									ATTTTGTCTTCGATCATGCAT	0.294													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.0				p.F58F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174T	11						.						156.0	152.0	154.0					11																	121174258		2203	4299	6502	120679468	SO:0001819	synonymous_variant	6309	exon2				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.174C>T	11.37:g.121174258C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120679468	NM_006918	O00119|Q6GTM5|Q9UK15	Silent	SNP	ENST00000392789.2	37	CCDS8435.1																																																																																				0.294	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956	
SORL1	6653	broad.mit.edu	37	11	121367594	121367594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:121367594G>A	ENST00000260197.7	+	6	904	c.775G>A	c.(775-777)Gac>Aac	p.D259N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	259					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.D259N(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGATCCCTATGACAAACCAAA	0.403																																					p.D259N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	11						.						71.0	66.0	68.0					11																	121367594		2203	4299	6502	120872804	SO:0001583	missense	6653	exon6			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.775G>A	11.37:g.121367594G>A	ENSP00000260197:p.Asp259Asn	Somatic		Capture	Illumina HiSeq	Phase_I	120872804	NM_003105	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205504	0.95033	.	.	ENSG00000137642	ENST00000260197	T	0.35236	1.32	5.78	5.78	0.91487	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54443	-0.8293	10	0.59425	D	0.04	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	259	Q92673	SORL_HUMAN	N	259	ENSP00000260197:D259N	ENSP00000260197:D259N	D	+	1	0	SORL1	120872804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.557000	0.98129	2.724000	0.93272	0.563000	0.77884	GAC		0.403	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
SORL1	6653	broad.mit.edu	37	11	121367733	121367733	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:121367733A>C	ENST00000260197.7	+	6	1043	c.914A>C	c.(913-915)aAg>aCg	p.K305T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	305					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.K305T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTCGGGACAAGTACATGTTT	0.418																																					p.K305T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A914C	11						.						97.0	94.0	95.0					11																	121367733		2203	4299	6502	120872943	SO:0001583	missense	6653	exon6			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.914A>C	11.37:g.121367733A>C	ENSP00000260197:p.Lys305Thr	Somatic		Capture	Illumina HiSeq	Phase_I	120872943	NM_003105	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973393	0.74246	.	.	ENSG00000137642	ENST00000260197	T	0.30182	1.54	5.7	5.7	0.88788	VPS10 (1);	0.052137	0.64402	D	0.000001	T	0.43853	0.1266	L	0.38838	1.175	0.80722	D	1	D	0.71674	0.998	P	0.62089	0.898	T	0.29792	-1.0000	10	0.51188	T	0.08	.	15.9745	0.80049	1.0:0.0:0.0:0.0	.	305	Q92673	SORL_HUMAN	T	305	ENSP00000260197:K305T	ENSP00000260197:K305T	K	+	2	0	SORL1	120872943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.055000	0.71103	2.168000	0.68352	0.533000	0.62120	AAG		0.418	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
UBASH3B	84959	broad.mit.edu	37	11	122669709	122669709	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:122669709C>T	ENST00000284273.5	+	10	1792	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.R473C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCGTCCCTTCGCTGCGTTCA	0.428																																					p.R473C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417T	11						.						140.0	125.0	131.0					11																	122669709		2202	4299	6501	122174919	SO:0001583	missense	84959	exon10			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1417C>T	11.37:g.122669709C>T	ENSP00000284273:p.Arg473Cys	Somatic		Capture	Illumina HiSeq	Phase_I	122174919	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848151	0.91277	.	.	ENSG00000154127	ENST00000284273	T	0.77229	-1.08	6.17	6.17	0.99709	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93419	0.6775	10	0.87932	D	0	-2.7987	20.4745	0.99168	0.0:1.0:0.0:0.0	.	473	Q8TF42	UBS3B_HUMAN	C	473	ENSP00000284273:R473C	ENSP00000284273:R473C	R	+	1	0	UBASH3B	122174919	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	5.511000	0.67024	2.941000	0.99782	0.655000	0.94253	CGC		0.428	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
C11orf63	79864	broad.mit.edu	37	11	122828073	122828073	+	Silent	SNP	G	G	A	rs199645772		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:122828073G>A	ENST00000531316.1	+	7	2105	c.2013G>A	c.(2011-2013)acG>acA	p.T671T	C11orf63_ENST00000227349.2_Silent_p.T671T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	671					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.T671T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTGAACAGACGCAAAAATTAA	0.378																																					p.T671T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2013A	11						.						99.0	88.0	92.0					11																	122828073		2202	4299	6501	122333283	SO:0001819	synonymous_variant	79864	exon8			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.2013G>A	11.37:g.122828073G>A		Somatic		Capture	Illumina HiSeq	Phase_I	122333283	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	CCDS8438.1																																																																																				0.378	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
MICALCL	84953	broad.mit.edu	37	11	12315760	12315760	+	Missense_Mutation	SNP	G	G	A	rs200474609		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:12315760G>A	ENST00000256186.2	+	3	1073	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	261					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.R261Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CAAGGGGAGCGAAACGTGCCT	0.642																																					p.R261Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G782A	11						.	G	GLN/ARG	1,3865		0,1,1932	33.0	36.0	35.0		782	-5.4	0.0	11		35	1,8267		0,1,4133	yes	missense	MICALCL	NM_032867.2	43	0,2,6065	AA,AG,GG		0.0121,0.0259,0.0165	probably-damaging	261/696	12315760	2,12132	1933	4134	6067	12272336	SO:0001583	missense	84953	exon3			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.782G>A	11.37:g.12315760G>A	ENSP00000256186:p.Arg261Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12272336	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698757	0.68501	2.59E-4	1.21E-4	ENSG00000133808	ENST00000256186	T	0.14022	2.54	5.41	-5.41	0.02648	.	1.622640	0.03901	N	0.280350	T	0.16300	0.0392	L	0.53249	1.67	0.09310	N	1	D	0.71674	0.998	P	0.52598	0.703	T	0.40156	-0.9578	10	0.27785	T	0.31	.	1.9207	0.03306	0.3018:0.3408:0.242:0.1155	.	261	Q6ZW33	MICLK_HUMAN	Q	261	ENSP00000256186:R261Q	ENSP00000256186:R261Q	R	+	2	0	MICALCL	12272336	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.225000	0.02956	-0.530000	0.06349	-0.312000	0.09012	CGA		0.642	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	
CLMP	79827	broad.mit.edu	37	11	122954416	122954416	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:122954416A>G	ENST00000448775.2	-	4	868	c.528T>C	c.(526-528)gaT>gaC	p.D176D	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	176	Ig-like C2-type 2.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D176D(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GCAGACGTTCATCCTCTCCCT	0.468																																					p.D176D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T528C	11						.						173.0	135.0	147.0					11																	122954416		2202	4299	6501	122459626	SO:0001819	synonymous_variant	79827	exon4			BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.528T>C	11.37:g.122954416A>G		Somatic		Capture	Illumina HiSeq	Phase_I	122459626	NM_024769		Silent	SNP	ENST00000448775.2	37	CCDS8441.1																																																																																				0.468	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769	
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:123813896G>T	ENST00000321252.2	-	1	684	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S217Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542																																					p.S217Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650A	11						.						82.0	77.0	79.0					11																	123813896		2202	4299	6501	123319106	SO:0001583	missense	219874	exon1			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.650C>A	11.37:g.123813896G>T	ENSP00000325203:p.Ser217Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123319106	NM_001005187	Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914481	0.33815	.	.	ENSG00000181499	ENST00000321252	T	0.46063	0.88	3.7	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74099	0.3672	H	0.96239	3.79	0.21064	N	0.999799	D	0.89917	1.0	D	0.79784	0.993	T	0.67921	-0.5545	9	0.87932	D	0	-11.4192	12.9791	0.58554	0.0:0.0:1.0:0.0	.	217	Q8NGN1	OR6T1_HUMAN	Y	217	ENSP00000325203:S217Y	ENSP00000325203:S217Y	S	-	2	0	OR6T1	123319106	1.000000	0.71417	0.019000	0.16419	0.335000	0.28730	4.553000	0.60753	1.872000	0.54250	0.563000	0.77884	TCC		0.542	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187	
Unknown	0	broad.mit.edu	37	11	124096302	124096302	+	IGR	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:124096302C>A								OR10D3 (39350 upstream) : OR8G1 (24120 downstream)																							AACCCCCAATCTATAGCCTAA	0.418																																					p.S302Y												.	.	0			c.C905A	11						.						67.0	60.0	62.0					11																	124096302		1910	4143	6053	123601512	SO:0001628	intergenic_variant	26492	exon1																															11.37:g.124096302C>A		Somatic		Capture	Illumina HiSeq	Phase_I	123601512	NM_001007249		Missense_Mutation	SNP		37																																																																																				0	0.418								
OR8B3	390271	broad.mit.edu	37	11	124266577	124266577	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:124266577C>A	ENST00000354597.3	-	1	687	c.671G>T	c.(670-672)aGc>aTc	p.S224I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S224I(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAAGAATGCTAGTGACAAT	0.408																																					p.S224I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G671T	11						.						91.0	101.0	97.0					11																	124266577		2201	4297	6498	123771787	SO:0001583	missense	390271	exon1			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.671G>T	11.37:g.124266577C>A	ENSP00000346611:p.Ser224Ile	Somatic		Capture	Illumina HiSeq	Phase_I	123771787	NM_001005467	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	6.708	0.499299	0.12762	.	.	ENSG00000196661	ENST00000354597	T	0.00152	8.66	3.78	0.206	0.15208	GPCR, rhodopsin-like superfamily (1);	0.343302	0.28989	N	0.013488	T	0.00241	0.0007	M	0.83603	2.65	0.24063	N	0.996002	B	0.33448	0.412	B	0.41946	0.371	T	0.31779	-0.9931	10	0.87932	D	0	.	4.8498	0.13531	0.0:0.3149:0.2841:0.401	.	224	Q8NGG8	OR8B3_HUMAN	I	224	ENSP00000346611:S224I	ENSP00000346611:S224I	S	-	2	0	OR8B3	123771787	0.000000	0.05858	0.250000	0.24296	0.022000	0.10575	-1.392000	0.02523	0.041000	0.15688	-0.266000	0.10368	AGC		0.408	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467	
OR8B8	26493	broad.mit.edu	37	11	124310067	124310067	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:124310067C>T	ENST00000328064.2	-	1	987	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	305					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L305L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATTTTTGTTCAAGATTTTCT	0.403																																					p.L305L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G915A	11						.						113.0	101.0	105.0					11																	124310067		2201	4299	6500	123815277	SO:0001819	synonymous_variant	26493	exon1			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.915G>A	11.37:g.124310067C>T		Somatic		Capture	Illumina HiSeq	Phase_I	123815277	NM_012378	A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	CCDS8446.1																																																																																				0.403	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378	
PUS3	83480	broad.mit.edu	37	11	125765878	125765878	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:125765878C>T	ENST00000530811.1	-	1	347	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.R101Q|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	101					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R101Q(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTCTACTAGTCGAGTCTTGGT	0.438																																					p.R101Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	11						.						255.0	233.0	241.0					11																	125765878		2201	4299	6500	125271088	SO:0001583	missense	83480	exon2			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.302G>A	11.37:g.125765878C>T	ENSP00000432386:p.Arg101Gln	Somatic		Capture	Illumina HiSeq	Phase_I	125271088	NM_031307	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057961	0.55325	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158;ENST00000529801	T;T;T;T	0.55052	0.55;0.55;0.55;0.54	6.17	6.17	0.99709	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.122950	0.53938	D	0.000052	T	0.72415	0.3457	M	0.73430	2.235	0.54753	D	0.999988	D	0.71674	0.998	D	0.66084	0.941	T	0.65100	-0.6250	10	0.26408	T	0.33	-13.4586	20.8794	0.99867	0.0:1.0:0.0:0.0	.	101	Q9BZE2	PUS3_HUMAN	Q	101	ENSP00000227474:R101Q;ENSP00000432386:R101Q;ENSP00000432272:R101Q;ENSP00000437077:R101Q	ENSP00000227474:R101Q	R	-	2	0	PUS3	125271088	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.642000	0.67888	2.941000	0.99782	0.655000	0.94253	CGA		0.438	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307	
KIRREL3	84623	broad.mit.edu	37	11	126343242	126343242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:126343242G>A	ENST00000525144.2	-	5	802	c.553C>T	c.(553-555)Cga>Tga	p.R185*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.R185*|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.R185*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	185	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R144*(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCCCTTTCGCAACCAGATG	0.652																																					p.R185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C553T	11						.						43.0	47.0	45.0					11																	126343242		2018	4168	6186	125848452	SO:0001587	stop_gained	84623	exon5			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.553C>T	11.37:g.126343242G>A	ENSP00000435466:p.Arg185*	Somatic		Capture	Illumina HiSeq	Phase_I	125848452	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673453	0.88445	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	.	.	.	4.86	-2.07	0.07276	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6823	0.45821	0.0724:0.0:0.3862:0.5414	.	.	.	.	X	185	.	ENSP00000435466:R185X	R	-	1	2	KIRREL3	125848452	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	1.040000	0.30278	-0.174000	0.10743	0.632000	0.83419	CGA		0.652	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
KCNJ5	3762	broad.mit.edu	37	11	128781607	128781607	+	Missense_Mutation	SNP	G	G	A	rs148355179	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:128781607G>A	ENST00000338350.4	+	3	791	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	KCNJ5_ENST00000533599.1_Missense_Mutation_p.E147K|KCNJ5_ENST00000529694.1_Missense_Mutation_p.E147K			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	147					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.E147K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CATTGAGACCGAAACAACCAT	0.527																																					p.E147K	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	11						.	G	LYS/GLU	0,4402		0,0,2201	152.0	149.0	150.0		439	5.5	0.5	11	dbSNP_134	150	1,8593	1.2+/-3.3	0,1,4296	no	missense	KCNJ5	NM_000890.3	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	147/420	128781607	1,12995	2201	4297	6498	128286817	SO:0001583	missense	3762	exon2			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.439G>A	11.37:g.128781607G>A	ENSP00000339960:p.Glu147Lys	Somatic		Capture	Illumina HiSeq	Phase_I	128286817	NM_000890	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602563	0.66445	0.0	1.16E-4	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95788	-3.81;-3.81;-3.81	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98671	1.0688	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	147	P48544	IRK5_HUMAN	K	147	ENSP00000433295:E147K;ENSP00000339960:E147K;ENSP00000434266:E147K	ENSP00000339960:E147K	E	+	1	0	KCNJ5	128286817	1.000000	0.71417	0.545000	0.28153	0.070000	0.16714	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	GAA		0.527	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890	
BARX2	8538	broad.mit.edu	37	11	129321174	129321174	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:129321174G>A	ENST00000281437.4	+	4	813	c.717G>A	c.(715-717)ggG>ggA	p.G239G	BARX2_ENST00000526127.1_Silent_p.G94G|BARX2_ENST00000531946.1_Silent_p.G117G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	239					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G239G(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCTCTCAGGGGCAGGAGGAGC	0.577																																					p.G239G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G717A	11						.						71.0	65.0	67.0					11																	129321174		2201	4297	6498	128826384	SO:0001819	synonymous_variant	8538	exon4			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.717G>A	11.37:g.129321174G>A		Somatic		Capture	Illumina HiSeq	Phase_I	128826384	NM_003658	O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	CCDS8481.1																																																																																				0.577	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658	
MUC5B	727897	broad.mit.edu	37	11	1266275	1266277	+	In_Frame_Del	DEL	CCG	CCG	-	rs565487559|rs543947285	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	CCG	CCG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:1266275_1266277delCCG	ENST00000529681.1	+	31	8223_8225	c.8165_8167delCCG	c.(8164-8169)accgcc>acc	p.A2723del	MUC5B_ENST00000447027.1_In_Frame_Del_p.A2726del|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2723	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A2702delA(1)		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)		ctgaccaccaccgccaccacacc	0.655																																					p.2722_2723del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.8165_8167del	11						.																																			1222853	SO:0001651	inframe_deletion	727897	exon31			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.8165_8167delCCG	11.37:g.1266275_1266277delCCG	ENSP00000436812:p.Ala2723del	Somatic		Capture	Illumina HiSeq	Phase_I	1222851	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																				0.655	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
STIM1	6786	broad.mit.edu	37	11	3877578	3877578	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:3877578T>C	ENST00000300737.4	+	1	647	c.78T>C	c.(76-78)agT>agC	p.S26S	AC090587.5_ENST00000415809.1_RNA|STIM1_ENST00000527651.1_Silent_p.S26S|MIR4687_ENST00000583618.1_RNA|AC090587.4_ENST00000430222.1_RNA	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	26					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.S26S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCAGCCATAGTCACAGTGAGA	0.607																																					p.S26S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T78C	11						.						94.0	93.0	94.0					11																	3877578		2201	4298	6499	3834154	SO:0001819	synonymous_variant	6786	exon1			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.78T>C	11.37:g.3877578T>C		Somatic		Capture	Illumina HiSeq	Phase_I	3834154	NM_003156	E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	CCDS7749.1																																																																																				0.607	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156	
OR51F1	256892	broad.mit.edu	37	11	4790392	4790392	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:4790392G>T	ENST00000380383.1	-	1	776	c.777C>A	c.(775-777)ttC>ttA	p.F259L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.F252L			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F252L(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGATGTAGAAGAAAGCAACTG	0.478																																					p.F252L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C756A	11						.						100.0	88.0	92.0					11																	4790392		2201	4298	6499	4746968	SO:0001583	missense	256892	exon1			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.777C>A	11.37:g.4790392G>T	ENSP00000369744:p.Phe259Leu	Somatic		Capture	Illumina HiSeq	Phase_I	4746968	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	G	9.670	1.146493	0.21288	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00013	9.23;9.23	5.24	-0.0818	0.13701	GPCR, rhodopsin-like superfamily (1);	0.713317	0.12648	N	0.450651	T	0.00039	0.0001	N	0.01076	-1.035	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.08597	-1.0714	10	0.27082	T	0.32	.	0.5475	0.00657	0.3464:0.1265:0.1632:0.3639	.	259	A6NGY5	O51F1_HUMAN	L	252;259	ENSP00000345163:F252L;ENSP00000369744:F259L	ENSP00000345163:F252L	F	-	3	2	OR51F1	4746968	0.002000	0.14202	0.969000	0.41365	0.764000	0.43329	-0.580000	0.05827	0.104000	0.17725	-0.302000	0.09304	TTC		0.478	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
OR51A7	119687	broad.mit.edu	37	11	4929059	4929059	+	Missense_Mutation	SNP	C	C	A	rs376236015		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:4929059C>A	ENST00000359350.4	+	1	460	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L154I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGGAGCATTCTCTTAGTGAT	0.388																																					p.L154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460A	11						.						100.0	99.0	99.0					11																	4929059		2201	4298	6499	4885635	SO:0001583	missense	119687	exon1			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.460C>A	11.37:g.4929059C>A	ENSP00000352305:p.Leu154Ile	Somatic		Capture	Illumina HiSeq	Phase_I	4885635	NM_001004749	Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	1.790	-0.479720	0.04383	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.43294	0.95	5.02	-0.366	0.12545	GPCR, rhodopsin-like superfamily (1);	0.540328	0.15532	N	0.257433	T	0.28764	0.0713	L	0.54908	1.71	0.09310	N	1	B	0.15141	0.012	B	0.22880	0.042	T	0.22871	-1.0204	10	0.21014	T	0.42	.	0.8434	0.01155	0.2546:0.3775:0.1347:0.2332	.	154	Q8NH64	O51A7_HUMAN	I	154;154;143	ENSP00000352305:L154I	ENSP00000352305:L154I	L	+	1	0	OR51A7	4885635	0.000000	0.05858	0.002000	0.10522	0.750000	0.42670	-3.841000	0.00353	-0.226000	0.09899	0.655000	0.94253	CTC		0.388	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749	
OR51V1	283111	broad.mit.edu	37	11	5221313	5221313	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5221313G>A	ENST00000321255.1	-	1	617	c.618C>T	c.(616-618)taC>taT	p.Y206Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	206					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y206Y(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCATAGTAACTATTGA	0.423																																					p.Y206Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	11						.						61.0	57.0	58.0					11																	5221313		2201	4298	6499	5177889	SO:0001819	synonymous_variant	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.618C>T	11.37:g.5221313G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5177889	NM_001004760		Silent	SNP	ENST00000321255.1	37	CCDS31375.1																																																																																				0.423	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
OR51M1	390059	broad.mit.edu	37	11	5410670	5410670	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5410670A>G	ENST00000328611.3	+	1	64	c.42A>G	c.(40-42)ctA>ctG	p.L14L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	14					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGCTGCTATCCAACATTA	0.393																																					p.L14L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A42G	11						.						182.0	173.0	176.0					11																	5410670		1935	4134	6069	5367246	SO:0001819	synonymous_variant	390059	exon1			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.42A>G	11.37:g.5410670A>G		Somatic		Capture	Illumina HiSeq	Phase_I	5367246	NM_001004756	Q6IF80	Silent	SNP	ENST00000328611.3	37	CCDS53596.1																																																																																				0.393	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
OR51M1	390059	broad.mit.edu	37	11	5411107	5411107	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5411107T>C	ENST00000328611.3	+	1	501	c.479T>C	c.(478-480)gTc>gCc	p.V160A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	160					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V160A(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTAATTGTCATCTTCCGG	0.542																																					p.V160A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T479C	11						.						216.0	209.0	212.0					11																	5411107		2038	4206	6244	5367683	SO:0001583	missense	390059	exon1			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.479T>C	11.37:g.5411107T>C	ENSP00000333196:p.Val160Ala	Somatic		Capture	Illumina HiSeq	Phase_I	5367683	NM_001004756	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353820	0.11182	.	.	ENSG00000184698	ENST00000328611	T	0.38887	1.11	4.93	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.659516	0.11555	U	0.552326	T	0.32645	0.0836	N	0.16567	0.415	0.09310	N	1	B	0.23058	0.079	B	0.39935	0.314	T	0.48364	-0.9042	10	0.29301	T	0.29	.	8.1456	0.31110	0.0:0.2408:0.0:0.7592	.	149	Q9H341	O51M1_HUMAN	A	160	ENSP00000333196:V160A	ENSP00000333196:V160A	V	+	2	0	OR51M1	5367683	0.000000	0.05858	0.037000	0.18230	0.364000	0.29643	0.050000	0.14120	0.064000	0.16427	0.533000	0.62120	GTC		0.542	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
OR51I1	390063	broad.mit.edu	37	11	5462457	5462457	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5462457A>G	ENST00000380211.1	-	1	287	c.288T>C	c.(286-288)ttT>ttC	p.F96F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F96F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAAGCATTAAACGCAACAT	0.458																																					p.F96F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T288C	11						.						138.0	123.0	128.0					11																	5462457		2201	4297	6498	5419033	SO:0001819	synonymous_variant	390063	exon1			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.288T>C	11.37:g.5462457A>G		Somatic		Capture	Illumina HiSeq	Phase_I	5419033	NM_001005288	B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	CCDS31382.1																																																																																				0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288	
OR52D1	390066	broad.mit.edu	37	11	5510858	5510858	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5510858C>A	ENST00000322641.5	+	1	944	c.922C>A	c.(922-924)Cta>Ata	p.L308I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	308					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L308I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGTCGACTTCTAAAACTGCT	0.428																																					p.L308I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C922A	11						.						68.0	65.0	66.0					11																	5510858		2201	4297	6498	5467434	SO:0001583	missense	390066	exon1			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.922C>A	11.37:g.5510858C>A	ENSP00000326232:p.Leu308Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5467434	NM_001005163	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530890	0.13127	.	.	ENSG00000181609	ENST00000322641	T	0.38401	1.14	5.15	1.18	0.20946	.	0.626184	0.14176	N	0.336392	T	0.22781	0.0550	L	0.58669	1.825	0.09310	N	1	B	0.32350	0.366	B	0.28638	0.092	T	0.19844	-1.0293	10	0.06625	T	0.88	.	2.4655	0.04552	0.1336:0.5067:0.1301:0.2296	.	308	Q9H346	O52D1_HUMAN	I	308	ENSP00000326232:L308I	ENSP00000326232:L308I	L	+	1	2	OR52D1	5467434	0.000000	0.05858	0.024000	0.17045	0.134000	0.20937	-0.604000	0.05667	0.417000	0.25871	0.655000	0.94253	CTA		0.428	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
UBQLN3	50613	broad.mit.edu	37	11	5529111	5529111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5529111C>T	ENST00000311659.4	-	2	1825	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	560								p.E560K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCTAGACTCTATACCTCCT	0.557																																					p.E560K	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1678A	11						.						53.0	47.0	49.0					11																	5529111		2201	4297	6498	5485687	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1678G>A	11.37:g.5529111C>T	ENSP00000347997:p.Glu560Lys	Somatic		Capture	Illumina HiSeq	Phase_I	5485687	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.845926	0.00067	.	.	ENSG00000175520	ENST00000311659	T	0.36157	1.27	4.26	1.33	0.21861	.	0.466098	0.17927	N	0.157282	T	0.35451	0.0932	M	0.73217	2.22	0.09310	N	1	P	0.37061	0.58	B	0.32211	0.142	T	0.15578	-1.0432	10	0.44086	T	0.13	-6.4135	14.2526	0.66031	0.0:0.604:0.396:0.0	.	560	Q9H347	UBQL3_HUMAN	K	560	ENSP00000347997:E560K	ENSP00000347997:E560K	E	-	1	0	UBQLN3	5485687	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.143000	0.16115	0.063000	0.16370	-2.259000	0.00280	GAG		0.557	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
UBQLN3	50613	broad.mit.edu	37	11	5530614	5530614	+	Missense_Mutation	SNP	C	C	T	rs556714553	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5530614C>T	ENST00000311659.4	-	2	322	c.175G>A	c.(175-177)Gat>Aat	p.D59N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	59	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.D59N(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAGCTGATCGGGGTGGGCC	0.502													C|||	8	0.00159744	0.0	0.0	5008	,	,		24175	0.0		0.0	False		,,,				2504	0.0082				p.D59N	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G175A	11						.						164.0	159.0	161.0					11																	5530614		2201	4297	6498	5487190	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.175G>A	11.37:g.5530614C>T	ENSP00000347997:p.Asp59Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5487190	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055996	0.55325	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.74315	-0.83;-0.83	5.48	4.56	0.56223	Ubiquitin supergroup (1);Ubiquitin (2);	0.127621	0.35207	N	0.003370	T	0.72070	0.3415	L	0.60904	1.88	0.44619	D	0.997598	B	0.23128	0.08	B	0.31337	0.128	T	0.71048	-0.4705	10	0.56958	D	0.05	-13.3332	11.5191	0.50541	0.0:0.9107:0.0:0.0893	.	59	Q9H347	UBQL3_HUMAN	N	59	ENSP00000347997:D59N;ENSP00000412561:D59N	ENSP00000347997:D59N	D	-	1	0	UBQLN3	5487190	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.880000	0.69698	1.430000	0.47334	0.484000	0.47621	GAT		0.502	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
UBQLNL	143630	broad.mit.edu	37	11	5537083	5537083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5537083C>A	ENST00000380184.1	-	1	852	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	197								p.E197*(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCTAGATGTTCTGAAATGAAC	0.493																																					p.E197X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G589T	11						.						126.0	125.0	125.0					11																	5537083		2201	4297	6498	5493659	SO:0001587	stop_gained	143630	exon1			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.589G>T	11.37:g.5537083C>A	ENSP00000369531:p.Glu197*	Somatic		Capture	Illumina HiSeq	Phase_I	5493659	NM_145053	Q6ZRU1|Q96EK3|Q96MB0	Nonsense_Mutation	SNP	ENST00000380184.1	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168393	0.94768	.	.	ENSG00000175518	ENST00000380184	.	.	.	4.87	4.87	0.63330	.	0.270758	0.26307	N	0.025123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	13.3722	0.60719	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000369531:E197X	E	-	1	0	UBQLNL	5493659	1.000000	0.71417	0.279000	0.24732	0.383000	0.30230	2.362000	0.44169	2.501000	0.84356	0.655000	0.94253	GAA		0.493	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053	
TRIM6	117854	broad.mit.edu	37	11	5632045	5632045	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5632045C>A	ENST00000278302.5	+	8	1080	c.940C>A	c.(940-942)Ctt>Att	p.L314I	TRIM6_ENST00000507320.1_Missense_Mutation_p.L139I|TRIM6_ENST00000515022.1_Missense_Mutation_p.L139I|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000506134.1_Missense_Mutation_p.L139I|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.L342I|TRIM6_ENST00000380107.1_Missense_Mutation_p.L288I|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.L139I	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.L342I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TAATTTAAATCTTGTCCTGGC	0.468																																					p.L342I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1024A	11						.						107.0	96.0	100.0					11																	5632045		2201	4297	6498	5588621	SO:0001583	missense	117854	exon8			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.940C>A	11.37:g.5632045C>A	ENSP00000278302:p.Leu314Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5588621	NM_001003818	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028389	0.35797	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.03496	3.91;3.91;3.91;3.91;3.91;3.91;3.91	4.2	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.12092	0.0294	L	0.50333	1.59	0.80722	D	1	B;D;D	0.89917	0.391;1.0;0.999	B;D;D	0.85130	0.215;0.997;0.994	T	0.20042	-1.0287	9	0.21014	T	0.42	.	14.8442	0.70249	0.0:1.0:0.0:0.0	.	288;342;314	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	I	314;139;288;342;139;221;139;139	ENSP00000278302:L314I;ENSP00000427704:L139I;ENSP00000369450:L288I;ENSP00000369440:L342I;ENSP00000399215:L139I;ENSP00000421802:L139I;ENSP00000421079:L139I	ENSP00000278302:L314I	L	+	1	0	TRIM6	5588621	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	4.240000	0.58701	2.633000	0.89246	0.467000	0.42956	CTT		0.468	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM34	53840	broad.mit.edu	37	11	5664810	5664810	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5664810T>G	ENST00000514226.1	+	8	1675	c.1338T>G	c.(1336-1338)ttT>ttG	p.F446L	HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.F446L|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.F800L|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F446L	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F446L(1)|p.F800L(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCTCATTTTTCAATGTCA	0.463																																					p.F446L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1338G	11						.						140.0	131.0	134.0					11																	5664810		2201	4297	6498	5621386	SO:0001583	missense	445372	exon8			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1338T>G	11.37:g.5664810T>G	ENSP00000422947:p.Phe446Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5621386	NM_001003827	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539982	0.65085	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	2.99	1.86	0.25419	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.33959	N	0.004393	D	0.93976	0.8071	M	0.92970	3.365	0.26782	N	0.969587	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.86116	0.1565	10	0.87932	D	0	.	4.2854	0.10853	0.0:0.1694:0.0:0.8306	.	446;800	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	L	800;446;446;446;800	ENSP00000422947:F446L;ENSP00000402595:F446L;ENSP00000395982:F446L;ENSP00000346916:F800L	ENSP00000402595:F446L	F	+	3	2	TRIM34;TRIM6-TRIM34	5621386	1.000000	0.71417	0.984000	0.44739	0.865000	0.49528	0.783000	0.26802	0.561000	0.29186	0.383000	0.25322	TTT		0.463	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
OR52N2	390077	broad.mit.edu	37	11	5842225	5842225	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5842225C>T	ENST00000317037.2	+	1	682	c.660C>T	c.(658-660)taC>taT	p.Y220Y	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y220Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTATCTTACACTATGATTT	0.443																																					p.Y220Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	11						.						353.0	301.0	319.0					11																	5842225		2201	4296	6497	5798801	SO:0001819	synonymous_variant	390077	exon1			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.660C>T	11.37:g.5842225C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5798801	NM_001005174	Q6IFF9	Silent	SNP	ENST00000317037.2	37	CCDS31399.1																																																																																				0.443	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174	
OR52E8	390079	broad.mit.edu	37	11	5878233	5878233	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5878233G>A	ENST00000537935.1	-	1	731	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P234S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGGAGGGCAGGCAGAAG	0.423																																					p.P234S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C700T	11						.						74.0	82.0	79.0					11																	5878233		2138	4296	6434	5834809	SO:0001583	missense	390079	exon1			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.700C>T	11.37:g.5878233G>A	ENSP00000444054:p.Pro234Ser	Somatic		Capture	Illumina HiSeq	Phase_I	5834809	NM_001005168	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926169	0.34002	.	.	ENSG00000183269	ENST00000537935	T	0.36878	1.23	4.42	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.26085	0.0636	L	0.38175	1.15	0.09310	N	1	B	0.28439	0.212	B	0.31101	0.124	T	0.13629	-1.0502	10	0.32370	T	0.25	.	7.2402	0.26092	0.0922:0.0:0.7351:0.1727	.	234	Q6IFG1	O52E8_HUMAN	S	234	ENSP00000444054:P234S	ENSP00000444054:P234S	P	-	1	0	OR52E8	5834809	0.000000	0.05858	0.008000	0.14137	0.750000	0.42670	-0.275000	0.08525	1.169000	0.42739	0.549000	0.68633	CCC		0.423	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168	
OR56A3	390083	broad.mit.edu	37	11	5969452	5969452	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:5969452C>T	ENST00000329564.6	+	1	883	c.876C>T	c.(874-876)aaC>aaT	p.N292N		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N292N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCCTTAACCCCATCATTT	0.463																																					p.N292N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	11						.						118.0	111.0	113.0					11																	5969452		2042	4217	6259	5926028	SO:0001819	synonymous_variant	390083	exon1				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.876C>T	11.37:g.5969452C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5926028	NM_001003443	A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	CCDS41614.1																																																																																				0.463	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
PRKCDBP	112464	broad.mit.edu	37	11	6340770	6340770	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:6340770C>T	ENST00000303927.3	-	2	579	c.409G>A	c.(409-411)Gct>Act	p.A137T	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.A169T	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	137					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)		p.A137T(1)		large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTGGAAAGCGCTGGCTGGG	0.632																																					p.A137T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	11						.						10.0	10.0	10.0					11																	6340770		2167	4261	6428	6297346	SO:0001583	missense	112464	exon2			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.409G>A	11.37:g.6340770C>T	ENSP00000307292:p.Ala137Thr	Somatic		Capture	Illumina HiSeq	Phase_I	6297346	NM_145040		Missense_Mutation	SNP	ENST00000303927.3	37	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879191	0.72294	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.60424	0.19;0.19	4.93	4.93	0.64822	.	0.064520	0.64402	D	0.000007	T	0.70692	0.3253	L	0.56769	1.78	0.34994	D	0.755348	D	0.89917	1.0	D	0.87578	0.998	T	0.76356	-0.2989	10	0.36615	T	0.2	-14.5325	13.6458	0.62281	0.0:1.0:0.0:0.0	.	137	Q969G5	PRDBP_HUMAN	T	137;169	ENSP00000307292:A137T;ENSP00000432047:A169T	ENSP00000307292:A137T	A	-	1	0	PRKCDBP	6297346	0.995000	0.38212	0.992000	0.48379	0.594000	0.36715	4.167000	0.58209	2.297000	0.77311	0.561000	0.74099	GCT		0.632	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040	
OR10A3	26496	broad.mit.edu	37	11	7960790	7960790	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:7960790G>T	ENST00000360759.3	-	1	351	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	93					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93Y(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCACAAAAGAAATCATAGT	0.448																																					p.S93Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C278A	11						.						109.0	101.0	104.0					11																	7960790		2201	4296	6497	7917366	SO:0001583	missense	26496	exon1			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.278C>A	11.37:g.7960790G>T	ENSP00000353988:p.Ser93Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	7917366	NM_001003745	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575772	0.28092	.	.	ENSG00000170683	ENST00000360759	T	0.00745	5.75	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.370544	0.19071	U	0.123510	T	0.02929	0.0087	M	0.93375	3.41	0.09310	N	1	B	0.32620	0.378	B	0.33042	0.157	T	0.04281	-1.0963	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	93	P58181	O10A3_HUMAN	Y	93	ENSP00000353988:S93Y	ENSP00000353988:S93Y	S	-	2	0	OR10A3	7917366	0.987000	0.35691	0.008000	0.14137	0.158000	0.22134	6.356000	0.73046	2.742000	0.94016	0.650000	0.86243	TCT		0.448	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
ST5	6764	broad.mit.edu	37	11	8739437	8739437	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:8739437C>A	ENST00000534127.1	-	8	1865	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ST5_ENST00000313726.6_Missense_Mutation_p.D494Y|ST5_ENST00000530438.1_Missense_Mutation_p.D74Y|ST5_ENST00000357665.1_Missense_Mutation_p.D494Y|ST5_ENST00000526757.1_Missense_Mutation_p.D74Y|ST5_ENST00000530991.1_5'UTR|ST5_ENST00000526099.1_Missense_Mutation_p.D7Y	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	494					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D494Y(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTGGGCAGATCTCCTGCAGAG	0.473																																					p.D494Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1480T	11						.						106.0	87.0	93.0					11																	8739437		2201	4296	6497	8696013	SO:0001583	missense	6764	exon8			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1480G>T	11.37:g.8739437C>A	ENSP00000433528:p.Asp494Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8696013	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321323	0.60634	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225	T;T;T;T;T;T	0.09538	2.97;3.32;3.32;3.32;2.97;2.97	5.01	5.01	0.66863	.	0.565087	0.17857	N	0.159642	T	0.14013	0.0339	L	0.27053	0.805	0.39868	D	0.973462	P;B;B	0.39157	0.662;0.065;0.335	B;B;P	0.44990	0.424;0.037;0.466	T	0.06409	-1.0828	10	0.72032	D	0.01	-4.3886	16.6838	0.85299	0.0:1.0:0.0:0.0	.	7;74;494	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	Y	74;494;494;494;7;74;104;74;74;74;74;74	ENSP00000435097:D74Y;ENSP00000433528:D494Y;ENSP00000319678:D494Y;ENSP00000350294:D494Y;ENSP00000436808:D7Y;ENSP00000436802:D74Y	ENSP00000319678:D494Y	D	-	1	0	ST5	8696013	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.431000	0.59915	2.606000	0.88127	0.655000	0.94253	GAT		0.473	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
ASCL3	56676	broad.mit.edu	37	11	8959296	8959296	+	Missense_Mutation	SNP	G	G	A	rs141980368	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:8959296G>A	ENST00000531618.1	-	1	462	c.413C>T	c.(412-414)gCg>gTg	p.A138V	ASCL3_ENST00000325884.1_Missense_Mutation_p.A138V			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	137	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.A138V(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTACTTGATCGCAGCTCTGAG	0.493													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17894	0.0		0.0	False		,,,				2504	0.0				p.A138V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	11						.	G	VAL/ALA	16,4386	24.3+/-50.5	0,16,2185	132.0	131.0	132.0		413	6.0	0.9	11	dbSNP_134	132	0,8590		0,0,4295	yes	missense	ASCL3	NM_020646.1	64	0,16,6480	AA,AG,GG		0.0,0.3635,0.1232	probably-damaging	138/182	8959296	16,12976	2201	4295	6496	8915872	SO:0001583	missense	56676	exon2			AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.413C>T	11.37:g.8959296G>A	ENSP00000435770:p.Ala138Val	Somatic		Capture	Illumina HiSeq	Phase_I	8915872	NM_020646	Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	CCDS7795.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	34	5.344884	0.95807	0.003635	0.0	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.99474	-5.97;-5.97	5.96	5.96	0.96718	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95800	0.8832	10	0.87932	D	0	-15.0285	20.4084	0.99013	0.0:0.0:1.0:0.0	.	137	Q9NQ33	ASCL3_HUMAN	V	138	ENSP00000318846:A138V;ENSP00000435770:A138V	ENSP00000318846:A138V	A	-	2	0	ASCL3	8915872	1.000000	0.71417	0.887000	0.34795	0.838000	0.47535	9.864000	0.99589	2.833000	0.97629	0.650000	0.86243	GCG		0.493	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1		
IPO7	10527	broad.mit.edu	37	11	9456557	9456557	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:9456557G>T	ENST00000379719.3	+	19	2293	c.2151G>T	c.(2149-2151)atG>atT	p.M717I	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	717					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.M717I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATCTTGAAATGATATACAGTA	0.323																																					p.M717I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2151T	11						.						108.0	105.0	106.0					11																	9456557		2201	4293	6494	9413133	SO:0001583	missense	10527	exon19			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2151G>T	11.37:g.9456557G>T	ENSP00000369042:p.Met717Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9413133	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	4.228	0.041290	0.08196	.	.	ENSG00000205339	ENST00000379719	T	0.40225	1.04	5.63	5.63	0.86233	Armadillo-type fold (1);	0.076024	0.85682	D	0.000000	T	0.23886	0.0578	N	0.02802	-0.49	0.46749	D	0.99918	B	0.02656	0.0	B	0.01281	0.0	T	0.08472	-1.0720	10	0.25106	T	0.35	.	19.692	0.96007	0.0:0.0:1.0:0.0	.	717	O95373	IPO7_HUMAN	I	717	ENSP00000369042:M717I	ENSP00000369042:M717I	M	+	3	0	IPO7	9413133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.157000	0.50716	2.671000	0.90904	0.455000	0.32223	ATG		0.323	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	
SBF2	81846	broad.mit.edu	37	11	9864205	9864205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:9864205G>A	ENST00000256190.8	-	25	3360	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	RP11-1H15.2_ENST00000533659.1_RNA|RNU7-28P_ENST00000516759.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1075					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1075S(1)|p.R1075C(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATCCAGGACGATTTACTCTT	0.363																																					p.R1075C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C3223T	11						.						162.0	140.0	147.0					11																	9864205		2200	4294	6494	9820781	SO:0001583	missense	81846	exon25			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3223C>T	11.37:g.9864205G>A	ENSP00000256190:p.Arg1075Cys	Somatic		Capture	Illumina HiSeq	Phase_I	9820781	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035953	0.75617	.	.	ENSG00000133812	ENST00000256190	D	0.85955	-2.05	5.48	5.48	0.80851	.	0.048793	0.85682	D	0.000000	D	0.88768	0.6526	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	D	0.89046	0.3452	10	0.56958	D	0.05	.	19.3452	0.94359	0.0:0.0:1.0:0.0	.	1075	Q86WG5	MTMRD_HUMAN	C	1075	ENSP00000256190:R1075C	ENSP00000256190:R1075C	R	-	1	0	SBF2	9820781	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.787000	0.62432	2.579000	0.87056	0.585000	0.79938	CGT		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
BTBD10	84280	broad.mit.edu	37	11	13466610	13466610	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:13466610T>G	ENST00000278174.5	-	2	307	c.62A>C	c.(61-63)aAa>aCa	p.K21T	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	21						nucleus (GO:0005634)		p.K21T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ACTATGCAATTTCCGATCCCA	0.413																																					p.K21T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A62C	11						.						169.0	170.0	170.0					11																	13466610		2200	4294	6494	13423186	SO:0001583	missense	84280	exon2			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.62A>C	11.37:g.13466610T>G	ENSP00000278174:p.Lys21Thr	Somatic		Capture	Illumina HiSeq	Phase_I	13423186	NM_032320	B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398427	0.62177	.	.	ENSG00000148925	ENST00000278174;ENST00000529708;ENST00000526841	T	0.33654	1.4	5.57	5.57	0.84162	.	0.655422	0.15341	N	0.267519	T	0.44307	0.1287	N	0.14661	0.345	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.47407	-0.9120	10	0.56958	D	0.05	-0.8581	15.394	0.74778	0.0:0.0:0.0:1.0	.	21	Q9BSF8	BTBDA_HUMAN	T	21	ENSP00000278174:K21T	ENSP00000278174:K21T	K	-	2	0	BTBD10	13423186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.835000	0.55805	2.111000	0.64477	0.533000	0.62120	AAA		0.413	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	
COPB1	1315	broad.mit.edu	37	11	14497407	14497407	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:14497407A>C	ENST00000249923.3	-	13	1840	c.1540T>G	c.(1540-1542)Ttg>Gtg	p.L514V	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L514V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	514					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.L514V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCAGTAACCAATTTCTGAACT	0.398																																					p.L514V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1540G	11						.						163.0	154.0	157.0					11																	14497407		2200	4294	6494	14453983	SO:0001583	missense	1315	exon13			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1540T>G	11.37:g.14497407A>C	ENSP00000249923:p.Leu514Val	Somatic		Capture	Illumina HiSeq	Phase_I	14453983	NM_016451	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786294	0.49997	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.28069	1.63;1.63	5.78	3.16	0.36331	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.20304	0.555	0.58432	D	0.999999	B	0.17852	0.024	B	0.28305	0.088	T	0.10177	-1.0641	10	0.02654	T	1	-5.0E-4	6.5033	0.22182	0.591:0.0:0.409:0.0	.	514	P53618	COPB_HUMAN	V	514	ENSP00000249923:L514V;ENSP00000397873:L514V	ENSP00000249923:L514V	L	-	1	2	COPB1	14453983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.082000	0.41605	1.111000	0.41721	0.482000	0.46254	TTG		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	
PDE3B	5140	broad.mit.edu	37	11	14839812	14839812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:14839812G>T	ENST00000282096.4	+	6	1959	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.E485*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	536					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.E536*(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	ATCACCCATAGAATTTCCTGA	0.393																																					p.E536X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1606T	11						.						70.0	64.0	66.0					11																	14839812		2200	4294	6494	14796388	SO:0001587	stop_gained	5140	exon6			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1606G>T	11.37:g.14839812G>T	ENSP00000282096:p.Glu536*	Somatic		Capture	Illumina HiSeq	Phase_I	14796388	NM_000922	B7ZM37|O00639|Q14408|Q6SEI4	Nonsense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	38	6.938013	0.97948	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	.	.	.	5.55	5.55	0.83447	.	0.625489	0.15857	N	0.241229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.5152	0.95160	0.0:0.0:1.0:0.0	.	.	.	.	X	536;485	.	ENSP00000282096:E536X	E	+	1	0	PDE3B	14796388	1.000000	0.71417	0.875000	0.34327	0.702000	0.40608	7.159000	0.77483	2.615000	0.88500	0.460000	0.39030	GAA		0.393	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
PIK3C2A	5286	broad.mit.edu	37	11	17190574	17190574	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:17190574T>G	ENST00000265970.7	-	1	714	c.715A>C	c.(715-717)Aat>Cat	p.N239H	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	239					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.N239H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GCTTTCCCATTTTTTAAAAAT	0.363																																					p.N239H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A715C	11						.						50.0	47.0	48.0					11																	17190574		2200	4293	6493	17147150	SO:0001583	missense	5286	exon1			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.715A>C	11.37:g.17190574T>G	ENSP00000265970:p.Asn239His	Somatic		Capture	Illumina HiSeq	Phase_I	17147150	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561626	0.65538	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.70986	-0.53	5.36	5.36	0.76844	.	0.357917	0.32055	N	0.006645	T	0.78052	0.4223	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.79916	-0.1601	10	0.59425	D	0.04	-23.2129	15.348	0.74355	0.0:0.0:0.0:1.0	.	239;239	F5H5W9;O00443	.;P3C2A_HUMAN	H	239	ENSP00000265970:N239H	ENSP00000265970:N239H	N	-	1	0	PIK3C2A	17147150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.636000	0.67848	2.027000	0.59764	0.383000	0.25322	AAT		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
ABCC8	6833	broad.mit.edu	37	11	17419890	17419890	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:17419890C>T	ENST00000389817.3	-	30	3817	c.3749G>A	c.(3748-3750)cGa>cAa	p.R1250Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1251Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1250	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.R1250Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ACTTGCCATTCGGACTTCCAG	0.542																																					p.R1250Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3749A	11						.						190.0	165.0	173.0					11																	17419890		2200	4293	6493	17376466	SO:0001583	missense	6833	exon30			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3749G>A	11.37:g.17419890C>T	ENSP00000374467:p.Arg1250Gln	Somatic		Capture	Illumina HiSeq	Phase_I	17376466	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669229	0.96754	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89810	-2.57;-2.57	5.46	5.46	0.80206	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.62326	D	0.03	.	19.3005	0.94143	0.0:1.0:0.0:0.0	.	1250	Q09428	ABCC8_HUMAN	Q	1250;1251	ENSP00000374467:R1250Q;ENSP00000303960:R1251Q	ENSP00000303960:R1251Q	R	-	2	0	ABCC8	17376466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.576000	0.86940	0.555000	0.69702	CGA		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
ABCC8	6833	broad.mit.edu	37	11	17419957	17419957	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:17419957C>T	ENST00000389817.3	-	30	3750	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	ABCC8_ENST00000302539.4_Missense_Mutation_p.E1229K			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1228	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.E1228K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCTGTGTATTCGAGAAGCTTC	0.542																																					p.E1228K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3682A	11						.						198.0	173.0	181.0					11																	17419957		2200	4293	6493	17376533	SO:0001583	missense	6833	exon30			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3682G>A	11.37:g.17419957C>T	ENSP00000374467:p.Glu1228Lys	Somatic		Capture	Illumina HiSeq	Phase_I	17376533	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.015753|2.015753	0.35606|0.35606	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000389817;ENST00000302539|ENST00000528374	D;D|.	0.88741|.	-2.42;-2.42|.	5.46|5.46	4.54|4.54	0.55810|0.55810	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.060283|.	0.64402|.	D|.	0.000003|.	T|T	0.57621|0.57621	0.2066|0.2066	L|L	0.38733|0.38733	1.17|1.17	0.54753|0.54753	D|D	0.999981|0.999981	B|.	0.12630|.	0.006|.	B|.	0.13407|.	0.009|.	T|T	0.53063|0.53063	-0.8491|-0.8491	10|5	0.16420|.	T|.	0.52|.	.|.	14.6187|14.6187	0.68569|0.68569	0.0:0.9284:0.0:0.0716|0.0:0.9284:0.0:0.0716	.|.	1228|.	Q09428|.	ABCC8_HUMAN|.	K|Q	1228;1229|51	ENSP00000374467:E1228K;ENSP00000303960:E1229K|.	ENSP00000303960:E1229K|.	E|R	-|-	1|2	0|0	ABCC8|ABCC8	17376533|17376533	0.995000|0.995000	0.38212|0.38212	0.954000|0.954000	0.39281|0.39281	0.993000|0.993000	0.82548|0.82548	3.140000|3.140000	0.50585|0.50585	2.576000|2.576000	0.86940|0.86940	0.555000|0.555000	0.69702|0.69702	GAA|CGA		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
ABCC8	6833	broad.mit.edu	37	11	17434216	17434216	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:17434216G>T	ENST00000389817.3	-	21	2621	c.2553C>A	c.(2551-2553)ttC>ttA	p.F851L	ABCC8_ENST00000302539.4_Missense_Mutation_p.F852L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	851	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.F851L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACTCACCAAGAAGACAACGT	0.597																																					p.F851L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2553A	11						.						162.0	97.0	119.0					11																	17434216		2200	4293	6493	17390792	SO:0001583	missense	6833	exon21			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2553C>A	11.37:g.17434216G>T	ENSP00000374467:p.Phe851Leu	Somatic		Capture	Illumina HiSeq	Phase_I	17390792	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063246	0.19987	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.84070	-1.8;-1.8	5.81	4.89	0.63831	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	N	0.00263	-1.745	0.53688	D	0.999972	B	0.02656	0.0	B	0.01281	0.0	T	0.57033	-0.7880	10	0.02654	T	1	.	10.4368	0.44441	0.2061:0.0:0.7939:0.0	.	851	Q09428	ABCC8_HUMAN	L	851;852;855	ENSP00000374467:F851L;ENSP00000303960:F852L	ENSP00000303960:F852L	F	-	3	2	ABCC8	17390792	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.264000	0.51553	1.436000	0.47453	0.557000	0.71058	TTC		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
HPS5	11234	broad.mit.edu	37	11	18313376	18313376	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:18313376C>A	ENST00000349215.3	-	16	2330	c.2053G>T	c.(2053-2055)Gat>Tat	p.D685Y	HPS5_ENST00000396253.3_Missense_Mutation_p.D571Y|HPS5_ENST00000438420.2_Missense_Mutation_p.D571Y|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	685					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.D685Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTATCTTCATCTAATATTCCC	0.358									Hermansky-Pudlak syndrome																												p.D571Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711T	11						.						76.0	70.0	72.0					11																	18313376		2199	4293	6492	18269952	SO:0001583	missense	11234	exon15	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2053G>T	11.37:g.18313376C>A	ENSP00000265967:p.Asp685Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	18269952	NM_181508	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887974	0.33348	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.79141	-1.24;-1.24;-1.24	5.63	3.72	0.42706	.	0.587434	0.18677	N	0.134274	T	0.73210	0.3558	L	0.44542	1.39	0.23089	N	0.998316	P	0.34892	0.474	B	0.36766	0.232	T	0.65565	-0.6137	10	0.72032	D	0.01	.	14.9985	0.71451	0.2597:0.7403:0.0:0.0	.	685	Q9UPZ3	HPS5_HUMAN	Y	571;571;685	ENSP00000379552:D571Y;ENSP00000399590:D571Y;ENSP00000265967:D685Y	ENSP00000265967:D685Y	D	-	1	0	HPS5	18269952	0.013000	0.17824	0.461000	0.27105	0.974000	0.67602	1.169000	0.31871	0.690000	0.31570	0.655000	0.94253	GAT		0.358	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	
GTF2H1	2965	broad.mit.edu	37	11	18373904	18373904	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:18373904T>G	ENST00000265963.4	+	11	1331	c.1171T>G	c.(1171-1173)Tca>Gca	p.S391A	GTF2H1_ENST00000530496.2_Missense_Mutation_p.S79A|GTF2H1_ENST00000526630.2_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S391A|GTF2H1_ENST00000534641.1_Missense_Mutation_p.S275A	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	391					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S391A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TCCAATCCAGTCACTACAGTA	0.363								Nucleotide excision repair (NER)																													p.S391A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1171G	11						.						195.0	184.0	188.0					11																	18373904		2199	4293	6492	18330480	SO:0001583	missense	2965	exon12				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1171T>G	11.37:g.18373904T>G	ENSP00000265963:p.Ser391Ala	Somatic		Capture	Illumina HiSeq	Phase_I	18330480	NM_001142307	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181755	0.57800	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496	T;T;T;T	0.46063	1.87;1.87;1.87;0.88	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.32530	0.975	0.80722	D	1	P	0.37688	0.605	B	0.31442	0.13	T	0.09335	-1.0679	10	0.13470	T	0.59	-15.065	16.6093	0.84858	0.0:0.0:0.0:1.0	.	391	P32780	TF2H1_HUMAN	A	391;275;391;79	ENSP00000393638:S391A;ENSP00000435375:S275A;ENSP00000265963:S391A;ENSP00000433133:S79A	ENSP00000265963:S391A	S	+	1	0	GTF2H1	18330480	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.853000	0.75435	2.324000	0.78689	0.533000	0.62120	TCA		0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	
NAV2	89797	broad.mit.edu	37	11	20136260	20136260	+	Silent	SNP	C	C	T	rs200326474		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:20136260C>T	ENST00000396087.3	+	40	7359	c.7260C>T	c.(7258-7260)gtC>gtT	p.V2420V	NAV2_ENST00000533917.1_Silent_p.V1425V|NAV2_ENST00000349880.4_Silent_p.V2361V|NAV2_ENST00000396085.1_Silent_p.V2364V|NAV2_ENST00000540292.1_Silent_p.V2351V|NAV2_ENST00000360655.4_Silent_p.V2297V|NAV2_ENST00000311043.8_Silent_p.V1425V|NAV2_ENST00000527559.2_Silent_p.V2349V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2420					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.V2420V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGAGGATGTCGGCTTCGACG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17263	0.001		0.0	False		,,,				2504	0.0				p.V2297V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6891T	11						.						75.0	57.0	63.0					11																	20136260		2203	4300	6503	20092836	SO:0001819	synonymous_variant	89797	exon37			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.7260C>T	11.37:g.20136260C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20092836	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.622	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
PRMT3	10196	broad.mit.edu	37	11	20473706	20473706	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:20473706G>T	ENST00000331079.6	+	11	1241	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	PRMT3_ENST00000437750.2_Missense_Mutation_p.D280Y	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	342	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.D342Y(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTCTATGTTAGATTCTGTCCT	0.338																																					p.D342Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024T	11						.																																			20430282	SO:0001583	missense	10196	exon11			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1024G>T	11.37:g.20473706G>T	ENSP00000331879:p.Asp342Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	20430282	NM_005788	B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483845	0.84854	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.23950	1.88;1.88	5.69	5.69	0.88448	.	0.042391	0.85682	N	0.000000	T	0.40171	0.1106	L	0.38175	1.15	0.80722	D	1	P;B	0.50066	0.931;0.129	P;B	0.57324	0.818;0.3	T	0.11891	-1.0569	10	0.87932	D	0	-18.4324	19.4617	0.94920	0.0:0.0:1.0:0.0	.	280;342	O60678-2;O60678	.;ANM3_HUMAN	Y	342;342;280	ENSP00000331879:D342Y;ENSP00000397766:D280Y	ENSP00000331879:D342Y	D	+	1	0	PRMT3	20430282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.731000	0.91529	2.684000	0.91462	0.644000	0.83932	GAT		0.338	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788	
NELL1	4745	broad.mit.edu	37	11	20805297	20805297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:20805297G>T	ENST00000357134.5	+	3	408	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	NELL1_ENST00000532434.1_Nonsense_Mutation_p.E86*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.E86*|NELL1_ENST00000298925.5_Nonsense_Mutation_p.E114*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	86	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.E86*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACAAGAGTGAATTCACCAT	0.443																																					p.E86X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G256T	11						.						117.0	106.0	110.0					11																	20805297		2203	4300	6503	20761873	SO:0001587	stop_gained	4745	exon3			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.256G>T	11.37:g.20805297G>T	ENSP00000349654:p.Glu86*	Somatic		Capture	Illumina HiSeq	Phase_I	20761873	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	41	8.533113	0.98852	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.9	5.9	0.94986	.	0.053221	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3072	20.263	0.98456	0.0:0.0:1.0:0.0	.	.	.	.	X	114;86;86;86	.	ENSP00000298925:E114X	E	+	1	0	NELL1	20761873	1.000000	0.71417	0.994000	0.49952	0.904000	0.53231	9.546000	0.98097	2.788000	0.95919	0.655000	0.94253	GAA		0.443	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
LUZP2	338645	broad.mit.edu	37	11	24753702	24753702	+	Silent	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:24753702T>G	ENST00000336930.6	+	3	285	c.219T>G	c.(217-219)gtT>gtG	p.V73V	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	73						extracellular region (GO:0005576)		p.V73V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAACTGATGTTCAGAAACTTC	0.333																																					p.V73V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T219G	11						.						60.0	61.0	61.0					11																	24753702		2202	4299	6501	24710278	SO:0001819	synonymous_variant	338645	exon3			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.219T>G	11.37:g.24753702T>G		Somatic		Capture	Illumina HiSeq	Phase_I	24710278	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	CCDS31446.1																																																																																				0.333	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
CCDC34	91057	broad.mit.edu	37	11	27371944	27371944	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:27371944G>A	ENST00000328697.6	-	3	1214	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	CCDC34_ENST00000317945.6_Missense_Mutation_p.R181C|CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	181								p.R181C(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CTTTTTTCACGTTCTTCCATT	0.323																																					p.R181C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C541T	11						.						180.0	159.0	166.0					11																	27371944		2202	4298	6500	27328520	SO:0001583	missense	91057	exon3			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.541C>T	11.37:g.27371944G>A	ENSP00000330240:p.Arg181Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27328520	NM_030771	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672094	0.67928	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.23552	1.9;1.9	5.74	4.83	0.62350	.	0.762281	0.12131	N	0.496762	T	0.46927	0.1418	L	0.50333	1.59	0.47778	D	0.999517	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.29671	-1.0004	10	0.66056	D	0.02	-3.3107	13.867	0.63594	0.0744:0.0:0.9256:0.0	.	181;181	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	C	181	ENSP00000330240:R181C;ENSP00000321563:R181C	ENSP00000321563:R181C	R	-	1	0	CCDC34	27328520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.091000	0.50199	1.587000	0.49959	0.586000	0.80456	CGT		0.323	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	
LGR4	55366	broad.mit.edu	37	11	27412666	27412666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:27412666G>A	ENST00000379214.4	-	4	819	c.376C>T	c.(376-378)Cga>Tga	p.R126*	LGR4_ENST00000389858.4_Nonsense_Mutation_p.R102*|LGR4_ENST00000480977.2_Intron	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	126					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.R126*(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTCAGCCCTCGAATGGCTTCA	0.368																																					p.R126X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C376T	11						.						92.0	92.0	92.0					11																	27412666		2202	4299	6501	27369242	SO:0001587	stop_gained	55366	exon4			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.376C>T	11.37:g.27412666G>A	ENSP00000368516:p.Arg126*	Somatic		Capture	Illumina HiSeq	Phase_I	27369242	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Nonsense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	40	8.469507	0.98825	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	.	.	.	6.01	5.05	0.67936	.	0.131335	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5111	0.56005	0.0:0.0:0.6836:0.3164	.	.	.	.	X	126;102	.	ENSP00000368516:R126X	R	-	1	2	LGR4	27369242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.733000	0.55029	2.861000	0.98227	0.650000	0.86243	CGA		0.368	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
KIF18A	81930	broad.mit.edu	37	11	28080609	28080609	+	Silent	SNP	G	G	A	rs200977819	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:28080609G>A	ENST00000263181.6	-	13	2102	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	MIR610_ENST00000385139.1_RNA	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	604					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.I604I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCAAATGTTCGATCTCTTTGA	0.403													G|||	3	0.000599042	0.0	0.0	5008	,	,		17204	0.001		0.001	False		,,,				2504	0.001				p.I604I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1812T	11						.	G		0,4404		0,0,2202	171.0	170.0	170.0		1812	3.2	1.0	11		170	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	KIF18A	NM_031217.3		0,2,6499	AA,AG,GG		0.0233,0.0,0.0154		604/899	28080609	2,13000	2202	4299	6501	28037185	SO:0001819	synonymous_variant	81930	exon13			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1812C>T	11.37:g.28080609G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28037185	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	CCDS7867.1																																																																																				0.403	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
DNAJC24	120526	broad.mit.edu	37	11	31436427	31436427	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:31436427G>A	ENST00000465995.1	+	3	287	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	DNAJC24_ENST00000536040.1_Missense_Mutation_p.E60K	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	60	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)	p.E61K(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GAAGTTCATCGAAATTGATCA	0.448																																					p.E61K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G181A	11						.						91.0	92.0	91.0					11																	31436427		1957	4166	6123	31393003	SO:0001583	missense	120526	exon3			AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"""Heat shock proteins / DNAJ (HSP40)"""	26979	protein-coding gene	gene with protein product		611072	"""zinc finger, CSL-type containing 3"", ""DPH4 homolog (JJJ3, S. cerevisiae)"", ""DPH4, JJJ3 homolog (S. cerevisiae)"""	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000465995.1:c.181G>A	11.37:g.31436427G>A	ENSP00000417548:p.Glu61Lys	Somatic		Capture	Illumina HiSeq	Phase_I	31393003	NM_181706	A8K0V0|B1ALC1|I6L9B4	Missense_Mutation	SNP	ENST00000465995.1	37	CCDS7873.2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577029	0.45902	.	.	ENSG00000170946	ENST00000465995;ENST00000536040	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	Heat shock protein DnaJ, N-terminal (5);	0.043678	0.85682	D	0.000000	T	0.42810	0.1219	L	0.38649	1.16	0.80722	D	1	D;P	0.63880	0.993;0.707	P;B	0.54431	0.752;0.069	T	0.10245	-1.0638	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	60;61	Q6P3W2;D3DQZ6	DJC24_HUMAN;.	K	61;60	ENSP00000417548:E61K;ENSP00000444967:E60K	ENSP00000417548:E61K	E	+	1	0	DNAJC24	31393003	1.000000	0.71417	0.837000	0.33122	0.004000	0.04260	7.842000	0.86851	2.941000	0.99782	0.655000	0.94253	GAA		0.448	DNAJC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258011.3	NM_181706	
RCN1	5954	broad.mit.edu	37	11	32118783	32118783	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:32118783C>A	ENST00000054950.3	+	2	641	c.348C>A	c.(346-348)atC>atA	p.I116I	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Silent_p.I65I	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	116	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.I116I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AAAGATACATCTTTGATAATG	0.423																																					p.I116I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348A	11						.						62.0	57.0	58.0					11																	32118783		2202	4296	6498	32075359	SO:0001819	synonymous_variant	5954	exon2			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.348C>A	11.37:g.32118783C>A		Somatic		Capture	Illumina HiSeq	Phase_I	32075359	NM_002901	B7Z1M1|D3DR00	Silent	SNP	ENST00000054950.3	37	CCDS7876.1																																																																																				0.423	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	
CCDC73	493860	broad.mit.edu	37	11	32635419	32635419	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:32635419C>T	ENST00000335185.5	-	16	2488	c.2445G>A	c.(2443-2445)gaG>gaA	p.E815E	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	815								p.E815E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTACCTGATTCTCATCAATCT	0.338																																					p.E815E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2445A	11						.						122.0	105.0	110.0					11																	32635419		1821	4086	5907	32591995	SO:0001819	synonymous_variant	493860	exon16			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2445G>A	11.37:g.32635419C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32591995	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1																																																																																				0.338	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
DEPDC7	91614	broad.mit.edu	37	11	33054956	33054956	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:33054956C>A	ENST00000241051.3	+	9	1583	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	DEPDC7_ENST00000311388.3_Missense_Mutation_p.F488L	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	497					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.F488L(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAGGTCAATTCTATAAGTGTC	0.308																																					p.F488L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1464A	11						.						83.0	82.0	82.0					11																	33054956		1800	4054	5854	33011532	SO:0001583	missense	91614	exon9				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1491C>A	11.37:g.33054956C>A	ENSP00000241051:p.Phe497Leu	Somatic		Capture	Illumina HiSeq	Phase_I	33011532	NM_139160	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141928	0.37825	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	D;D	0.89050	-2.46;-2.46	5.25	0.519	0.17035	.	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.83012	2.62	0.49483	D	0.999791	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.97	D	0.88716	0.3226	10	0.56958	D	0.05	-21.4193	4.1144	0.10074	0.1622:0.4701:0.0:0.3677	.	488;497	G5E941;Q96QD5	.;DEPD7_HUMAN	L	497;488	ENSP00000241051:F497L;ENSP00000308971:F488L	ENSP00000241051:F497L	F	+	3	2	DEPDC7	33011532	1.000000	0.71417	0.957000	0.39632	0.085000	0.17905	0.827000	0.27421	0.274000	0.22072	-0.319000	0.08680	TTC		0.308	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160	
HIPK3	10114	broad.mit.edu	37	11	33308073	33308073	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:33308073G>T	ENST00000303296.4	+	2	418	c.113G>T	c.(112-114)aGa>aTa	p.R38I	HIPK3_ENST00000456517.1_Missense_Mutation_p.R38I|HIPK3_ENST00000379016.3_Missense_Mutation_p.R38I|HIPK3_ENST00000525975.1_Missense_Mutation_p.R38I	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	38					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R38I(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTCCAGGAAAGAAACTATCCA	0.403																																					p.R38I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113T	11						.						110.0	103.0	105.0					11																	33308073		2202	4298	6500	33264649	SO:0001583	missense	10114	exon2			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.113G>T	11.37:g.33308073G>T	ENSP00000304226:p.Arg38Ile	Somatic		Capture	Illumina HiSeq	Phase_I	33264649	NM_001048200	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387538	0.61956	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000531504;ENST00000456517	T;T;T;T	0.54279	0.6;0.58;0.6;0.6	5.65	4.55	0.56014	.	0.077893	0.56097	D	0.000038	T	0.54382	0.1855	L	0.36672	1.1	0.80722	D	1	P;P	0.50617	0.937;0.916	P;P	0.53809	0.735;0.649	T	0.55205	-0.8177	10	0.54805	T	0.06	.	13.2293	0.59933	0.1308:0.0:0.8692:0.0	.	38;38	Q9H422-2;Q9H422	.;HIPK3_HUMAN	I	38	ENSP00000431710:R38I;ENSP00000304226:R38I;ENSP00000368301:R38I;ENSP00000398241:R38I	ENSP00000304226:R38I	R	+	2	0	HIPK3	33264649	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.714000	0.68422	2.673000	0.90976	0.585000	0.79938	AGA		0.403	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
HIPK3	10114	broad.mit.edu	37	11	33308552	33308552	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:33308552G>A	ENST00000303296.4	+	2	897	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	HIPK3_ENST00000456517.1_Missense_Mutation_p.E198K|HIPK3_ENST00000379016.3_Missense_Mutation_p.E198K|HIPK3_ENST00000525975.1_Missense_Mutation_p.E198K	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E198K(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AAATACTTACGAAGTCCTTGA	0.393																																					p.E198K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592A	11						.						70.0	66.0	67.0					11																	33308552		2202	4298	6500	33265128	SO:0001583	missense	10114	exon2			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.592G>A	11.37:g.33308552G>A	ENSP00000304226:p.Glu198Lys	Somatic		Capture	Illumina HiSeq	Phase_I	33265128	NM_001048200	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998168	0.93227	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.65	5.65	0.86999	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	0.64402	D	0.000003	T	0.34308	0.0893	L	0.35288	1.05	0.80722	D	1	P;P	0.52316	0.85;0.952	P;P	0.51415	0.54;0.669	T	0.04767	-1.0928	10	0.87932	D	0	.	19.7253	0.96161	0.0:0.0:1.0:0.0	.	198;198	Q9H422-2;Q9H422	.;HIPK3_HUMAN	K	198	ENSP00000431710:E198K;ENSP00000304226:E198K;ENSP00000368301:E198K;ENSP00000398241:E198K	ENSP00000304226:E198K	E	+	1	0	HIPK3	33265128	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	9.869000	0.99810	2.673000	0.90976	0.585000	0.79938	GAA		0.393	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
KIAA1549L	25758	broad.mit.edu	37	11	33565775	33565775	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:33565775A>C	ENST00000321505.4	+	1	1955	c.1775A>C	c.(1774-1776)aAc>aCc	p.N592T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.N592T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.N592T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	592						integral component of membrane (GO:0016021)											CCATTCCAGAACATCTTGGGA	0.468																																					p.N592T												.	.	0			c.A1775C	11						.						122.0	120.0	121.0					11																	33565775		1909	4122	6031	33522351	SO:0001583	missense	25758	exon1			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1775A>C	11.37:g.33565775A>C	ENSP00000315295:p.Asn592Thr	None		Capture	Illumina HiSeq	Phase_I	33522351	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	0.412	-0.912826	0.02415	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.56	-1.5	0.08691	.	0.860922	0.10282	N	0.693449	T	0.18551	0.0445	L	0.36672	1.1	0.09310	N	1	B;B	0.28933	0.035;0.228	B;B	0.24394	0.011;0.053	T	0.25082	-1.0142	9	0.11794	T	0.64	0.4303	1.3591	0.02188	0.3153:0.2382:0.3252:0.1213	.	592;592	E9PAT2;Q6ZVL6-2	.;.	T	592;592;592;432	.	ENSP00000265654:N592T	N	+	2	0	C11orf41	33522351	0.000000	0.05858	0.000000	0.03702	0.302000	0.27658	-0.121000	0.10643	-0.230000	0.09840	-0.499000	0.04595	AAC		0.468	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
FBXO3	26273	broad.mit.edu	37	11	33790443	33790443	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:33790443C>A	ENST00000265651.3	-	3	330	c.312G>T	c.(310-312)aaG>aaT	p.K104N	FBXO3_ENST00000530401.1_Missense_Mutation_p.K99N|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000534136.1_Missense_Mutation_p.K104N|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000448981.2_Missense_Mutation_p.K104N	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	104					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.K104N(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CCAAATATTTCTTGAGATCAT	0.403																																					p.K104N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G312T	11						.						175.0	167.0	170.0					11																	33790443		2202	4298	6500	33747019	SO:0001583	missense	26273	exon3			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.312G>T	11.37:g.33790443C>A	ENSP00000265651:p.Lys104Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33747019	NM_033406	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	CCDS7887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.183492|3.183492	0.57800|0.57800	.|.	.|.	ENSG00000110429|ENSG00000110429	ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981|ENST00000321458	T;T;T;T|.	0.35789|.	1.29;1.29;1.29;1.29|.	5.99|5.99	3.11|3.11	0.35812|0.35812	F-box domain, Skp2-like (1);|.	0.095826|.	0.85682|.	D|.	0.000000|.	T|T	0.60996|0.60996	0.2312|0.2312	L|L	0.53249|0.53249	1.67|1.67	0.45883|0.45883	D|D	0.998733|0.998733	B;B;P|.	0.34462|.	0.435;0.435;0.454|.	B;B;B|.	0.32677|.	0.117;0.117;0.15|.	T|T	0.63817|0.63817	-0.6551|-0.6551	10|6	0.72032|0.72032	D|D	0.01|0.01	-21.4807|-21.4807	8.9978|8.9978	0.36063|0.36063	0.0:0.7312:0.0:0.2688|0.0:0.7312:0.0:0.2688	.|.	99;104;104|.	Q9UK99-3;Q9UK99-2;Q9UK99|.	.;.;FBX3_HUMAN|.	N|I	104;99;104;104|101	ENSP00000265651:K104N;ENSP00000433781:K99N;ENSP00000431745:K104N;ENSP00000408836:K104N|.	ENSP00000265651:K104N|ENSP00000315066:R101I	K|R	-|-	3|2	2|0	FBXO3|FBXO3	33747019|33747019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.216000|1.216000	0.32443|0.32443	1.540000|1.540000	0.49301|0.49301	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.403	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175	
CAPRIN1	4076	broad.mit.edu	37	11	34110997	34110997	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:34110997G>A	ENST00000341394.4	+	12	1476	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	CAPRIN1_ENST00000530820.1_Silent_p.A429A|CAPRIN1_ENST00000389645.3_Silent_p.A429A|CAPRIN1_ENST00000532820.1_Silent_p.A429A|CAPRIN1_ENST00000529307.1_Silent_p.A348A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	429					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A429A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AACCAGAAGCGACACAGGTAA	0.398																																					p.A429A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1287A	11						.						91.0	81.0	85.0					11																	34110997		2202	4298	6500	34067573	SO:0001819	synonymous_variant	4076	exon12			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1287G>A	11.37:g.34110997G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34067573	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	ENST00000341394.4	37	CCDS31453.1																																																																																				0.398	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898	
ABTB2	25841	broad.mit.edu	37	11	34181814	34181814	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:34181814C>A	ENST00000435224.2	-	12	2908	c.2484G>T	c.(2482-2484)aaG>aaT	p.K828N	ABTB2_ENST00000298992.2_Missense_Mutation_p.K642N	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	828					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)		p.K642N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCGGCAGGGTCTTCCGGATCT	0.622																																					p.K828N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2484T	11						.						71.0	70.0	70.0					11																	34181814		2202	4298	6500	34138390	SO:0001583	missense	25841	exon12			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2484G>T	11.37:g.34181814C>A	ENSP00000410157:p.Lys828Asn	Somatic		Capture	Illumina HiSeq	Phase_I	34138390	NM_145804	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776471	0.31411	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60548	0.18;0.18	5.09	5.09	0.68999	BTB/POZ fold (2);	0.279785	0.40064	N	0.001198	T	0.44201	0.1282	L	0.40543	1.245	0.34267	D	0.680624	P	0.35656	0.514	B	0.27170	0.077	T	0.56378	-0.7989	10	0.21014	T	0.42	-13.9101	14.1459	0.65351	0.0:0.85:0.1499:0.0	.	642	Q8N961	ABTB2_HUMAN	N	828;642	ENSP00000410157:K828N;ENSP00000298992:K642N	ENSP00000298992:K642N	K	-	3	2	ABTB2	34138390	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.879000	0.48522	2.370000	0.80446	0.561000	0.74099	AAG		0.622	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804	
RAG1	5896	broad.mit.edu	37	11	36596580	36596580	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:36596580G>T	ENST00000299440.5	+	2	1838	c.1726G>T	c.(1726-1728)Gac>Tac	p.D576Y		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	576					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D576Y(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATGGAAGAAGACATCTTGGA	0.483									Familial Hemophagocytic Lymphohistiocytosis																												p.D576Y	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1726T	11						.						115.0	96.0	102.0					11																	36596580		2202	4298	6500	36553156	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1726G>T	11.37:g.36596580G>T	ENSP00000299440:p.Asp576Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36553156	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262418	0.59431	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88741	-2.42;-2.42	5.92	5.0	0.66597	.	0.051842	0.85682	D	0.000000	D	0.95652	0.8586	M	0.92219	3.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96590	0.9437	10	0.87932	D	0	.	15.0178	0.71600	0.0681:0.0:0.9319:0.0	.	576	P15918	RAG1_HUMAN	Y	576	ENSP00000434610:D576Y;ENSP00000299440:D576Y	ENSP00000299440:D576Y	D	+	1	0	RAG1	36553156	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	6.445000	0.73456	1.510000	0.48803	0.644000	0.83932	GAC		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
RAG2	5897	broad.mit.edu	37	11	36615387	36615387	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:36615387G>T	ENST00000311485.3	-	2	493	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	111					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.S111Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GCAAACAATAGACATGACATA	0.393									Familial Hemophagocytic Lymphohistiocytosis																												p.S111Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332A	11						.						160.0	155.0	157.0					11																	36615387		2202	4298	6500	36571963	SO:0001583	missense	5897	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.332C>A	11.37:g.36615387G>T	ENSP00000308620:p.Ser111Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36571963	NM_000536	A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368221	0.42003	.	.	ENSG00000175097	ENST00000311485;ENST00000529083	T;T	0.74632	-0.85;-0.86	5.52	4.56	0.56223	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.407294	0.25848	N	0.027903	D	0.88028	0.6327	M	0.93062	3.375	0.40300	D	0.978599	D	0.65815	0.995	P	0.60541	0.876	D	0.91473	0.5198	10	0.87932	D	0	-4.0345	16.8069	0.85708	0.0:0.1841:0.8159:0.0	.	111	P55895	RAG2_HUMAN	Y	111	ENSP00000308620:S111Y;ENSP00000436327:S111Y	ENSP00000308620:S111Y	S	-	2	0	RAG2	36571963	0.999000	0.42202	1.000000	0.80357	0.847000	0.48162	3.657000	0.54474	2.593000	0.87608	0.650000	0.86243	TCT		0.393	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536	
LRRC4C	57689	broad.mit.edu	37	11	40137192	40137192	+	Silent	SNP	C	C	T	rs370666599		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:40137192C>T	ENST00000278198.2	-	2	2614	c.651G>A	c.(649-651)ccG>ccA	p.P217P	LRRC4C_ENST00000528697.1_Silent_p.P217P|LRRC4C_ENST00000527150.1_Silent_p.P217P|LRRC4C_ENST00000530763.1_Silent_p.P217P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	217					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P217P(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTTTATGAGCGGTGTGAGGT	0.458																																					p.P217P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G651A	11						.	C		1,4405	2.1+/-5.4	0,1,2202	83.0	82.0	82.0		651	-8.0	0.5	11		82	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		217/641	40137192	1,13005	2203	4300	6503	40093768	SO:0001819	synonymous_variant	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.651G>A	11.37:g.40137192C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40093768	NM_020929	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
LRRC4C	57689	broad.mit.edu	37	11	40137423	40137423	+	Silent	SNP	C	C	T	rs142752772	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:40137423C>T	ENST00000278198.2	-	2	2383	c.420G>A	c.(418-420)ccG>ccA	p.P140P	LRRC4C_ENST00000528697.1_Silent_p.P140P|LRRC4C_ENST00000527150.1_Silent_p.P140P|LRRC4C_ENST00000530763.1_Silent_p.P140P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P140P(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTCCATTCGGGATGGTAG	0.423													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.0				p.P140P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G420A	11						.	C		10,4396	16.8+/-37.8	0,10,2193	68.0	70.0	69.0		420	-11.6	0.0	11	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC4C	NM_020929.1		0,11,6492	TT,TC,CC		0.0116,0.227,0.0846		140/641	40137423	11,12995	2203	4300	6503	40093999	SO:0001819	synonymous_variant	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.420G>A	11.37:g.40137423C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40093999	NM_020929	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
TTC17	55761	broad.mit.edu	37	11	43428933	43428933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:43428933G>T	ENST00000039989.4	+	15	1884	c.1870G>T	c.(1870-1872)Gaa>Taa	p.E624*	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Nonsense_Mutation_p.E624*	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	624					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E624*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CATACTCAATGAAGCTGGACT	0.368																																					p.E624X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1870T	11						.						90.0	81.0	84.0					11																	43428933		2203	4300	6503	43385509	SO:0001587	stop_gained	55761	exon15			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1870G>T	11.37:g.43428933G>T	ENSP00000039989:p.Glu624*	Somatic		Capture	Illumina HiSeq	Phase_I	43385509	NM_018259	G3XAB3|Q8NEC0	Nonsense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	39	7.642105	0.98406	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-21.6655	19.9265	0.97104	0.0:0.0:1.0:0.0	.	.	.	.	X	624	.	ENSP00000039989:E624X	E	+	1	0	TTC17	43385509	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.076000	0.94009	2.723000	0.93209	0.591000	0.81541	GAA		0.368	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
MAPK8IP1	9479	broad.mit.edu	37	11	45924650	45924650	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:45924650C>T	ENST00000241014.2	+	5	1502	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Silent_p.S434S	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	444	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.S444S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCTGCCTCTCCGAGGACTCCA	0.617																																					p.S444S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1332T	11						.						28.0	33.0	31.0					11																	45924650		2191	4290	6481	45881226	SO:0001819	synonymous_variant	9479	exon5				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1332C>T	11.37:g.45924650C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45881226	NM_005456	D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	CCDS7916.1																																																																																				0.617	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456	
LRP4	4038	broad.mit.edu	37	11	46895137	46895137	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:46895137C>A	ENST00000378623.1	-	29	4479	c.4237G>T	c.(4237-4239)Gac>Tac	p.D1413Y	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1413					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1413Y(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCGTTCAGGTCTGCTCGCCTT	0.567																																					p.D1413Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4237T	11						.						65.0	60.0	62.0					11																	46895137		2201	4299	6500	46851713	SO:0001583	missense	4038	exon29			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4237G>T	11.37:g.46895137C>A	ENSP00000367888:p.Asp1413Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	46851713	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430560	0.62844	.	.	ENSG00000134569	ENST00000378623	D	0.94046	-3.34	5.75	4.85	0.62838	Six-bladed beta-propeller, TolB-like (1);	0.047702	0.85682	D	0.000000	D	0.89880	0.6843	N	0.10809	0.05	0.58432	D	0.999998	P	0.51057	0.941	P	0.59761	0.863	D	0.86259	0.1654	10	0.02654	T	1	.	14.7527	0.69540	0.0:0.931:0.0:0.069	.	1413	O75096	LRP4_HUMAN	Y	1413	ENSP00000367888:D1413Y	ENSP00000367888:D1413Y	D	-	1	0	LRP4	46851713	0.960000	0.32886	0.999000	0.59377	0.906000	0.53458	2.004000	0.40854	1.444000	0.47605	-0.136000	0.14681	GAC		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
RAPSN	5913	broad.mit.edu	37	11	47469604	47469604	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:47469604G>A	ENST00000298854.2	-	2	504	c.291C>T	c.(289-291)tgC>tgT	p.C97C	RAPSN_ENST00000529341.1_Silent_p.C97C|RAPSN_ENST00000524487.1_Silent_p.C97C|RAPSN_ENST00000352508.3_Silent_p.C97C	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	97					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.C97C(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGTGAAACTCGCACAGCTTCT	0.622																																					p.C97C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	11	GRCh37	CM040100	RAPSN	M		.						99.0	76.0	84.0					11																	47469604		2201	4298	6499	47426180	SO:0001819	synonymous_variant	5913	exon2				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.291C>T	11.37:g.47469604G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47426180	NM_005055	Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	CCDS7936.1																																																																																				0.622	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1		
NUP160	23279	broad.mit.edu	37	11	47820009	47820009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:47820009G>A	ENST00000378460.2	-	24	2948	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	NUP160_ENST00000528071.1_Nonsense_Mutation_p.R854*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R854*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	968					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R968*(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCTAGTAGTCGTAAAACCTAA	0.333																																					p.R968X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2902T	11						.						79.0	77.0	78.0					11																	47820009		2201	4298	6499	47776585	SO:0001587	stop_gained	23279	exon24			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2902C>T	11.37:g.47820009G>A	ENSP00000367721:p.Arg968*	Somatic		Capture	Illumina HiSeq	Phase_I	47776585	NM_015231	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Nonsense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	38	6.875076	0.97901	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.1721	0.89749	0.0:0.0:1.0:0.0	.	.	.	.	X	968;854;854	.	ENSP00000367721:R968X	R	-	1	2	NUP160	47776585	1.000000	0.71417	0.988000	0.46212	0.770000	0.43624	5.314000	0.65804	2.547000	0.85894	0.655000	0.94253	CGA		0.333	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231	
PTPRJ	5795	broad.mit.edu	37	11	48142797	48142797	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:48142797A>G	ENST00000418331.2	+	4	947	c.595A>G	c.(595-597)Aga>Gga	p.R199G	PTPRJ_ENST00000440289.2_Missense_Mutation_p.R199G	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	199	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R199G(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAGATCCCAGAGTCATAAA	0.453																																					p.R199G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A595G	11						.						96.0	92.0	93.0					11																	48142797		2201	4298	6499	48099373	SO:0001583	missense	5795	exon4			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.595A>G	11.37:g.48142797A>G	ENSP00000400010:p.Arg199Gly	Somatic		Capture	Illumina HiSeq	Phase_I	48099373	NM_001098503	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	9.943	1.218031	0.22373	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000534219	T;T;T	0.53423	0.62;0.62;0.8	4.97	-2.78	0.05859	Fibronectin, type III (2);	.	.	.	.	T	0.20861	0.0502	N	0.03154	-0.405	0.09310	N	1	B;B	0.33379	0.03;0.41	B;B	0.26864	0.014;0.074	T	0.14839	-1.0458	9	0.66056	D	0.02	.	10.4464	0.44497	0.4454:0.0:0.5546:0.0	.	199;199	Q12913;Q6P4H4	PTPRJ_HUMAN;.	G	199;199;199;120	ENSP00000400010:R199G;ENSP00000409733:R199G;ENSP00000432686:R120G	ENSP00000278456:R199G	R	+	1	2	PTPRJ	48099373	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.311000	0.08124	-0.279000	0.09167	0.482000	0.46254	AGA		0.453	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
OR4S1	256148	broad.mit.edu	37	11	48328086	48328086	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:48328086C>A	ENST00000319988.1	+	1	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F104L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTGCCCACTTCTTTGGTGGCA	0.507																																					p.F104L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C312A	11						.						121.0	106.0	111.0					11																	48328086		2201	4288	6489	48284662	SO:0001583	missense	256148	exon1			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.312C>A	11.37:g.48328086C>A	ENSP00000321447:p.Phe104Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48284662	NM_001004725	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245127	0.22796	.	.	ENSG00000176555	ENST00000319988	T	0.00408	7.54	5.02	0.885	0.19188	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.20610	0.595	0.32614	N	0.524232	B	0.20052	0.041	B	0.24006	0.05	T	0.07158	-1.0787	9	0.22109	T	0.4	.	5.3524	0.16043	0.2817:0.5589:0.0:0.1594	.	104	Q8NGB4	OR4S1_HUMAN	L	104	ENSP00000321447:F104L	ENSP00000321447:F104L	F	+	3	2	OR4S1	48284662	0.000000	0.05858	0.977000	0.42913	0.355000	0.29361	-1.305000	0.02738	-0.019000	0.14055	-0.136000	0.14681	TTC		0.507	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
FOLH1	2346	broad.mit.edu	37	11	49227673	49227673	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:49227673T>G	ENST00000256999.2	-	2	430	c.170A>C	c.(169-171)aAt>aCt	p.N57T	FOLH1_ENST00000356696.3_Missense_Mutation_p.N57T|FOLH1_ENST00000340334.7_Missense_Mutation_p.N42T|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.N42T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	57					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.N57T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCTTTCATATTATGCTTTGG	0.328																																					p.N42T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A125C	11						.						49.0	53.0	52.0					11																	49227673		2198	4283	6481	49184249	SO:0001583	missense	2346	exon3			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.170A>C	11.37:g.49227673T>G	ENSP00000256999:p.Asn57Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49184249	NM_001193471	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.644460	0.00792	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.37915	1.23;1.26;1.17;1.19	4.29	-2.09	0.07232	.	0.413252	0.22047	N	0.065365	T	0.25531	0.0621	L	0.48362	1.52	0.09310	N	0.999999	B;B;B;B;B	0.29805	0.257;0.148;0.008;0.006;0.007	B;B;B;B;B	0.28916	0.096;0.078;0.01;0.042;0.012	T	0.22277	-1.0221	10	0.22109	T	0.4	.	10.3036	0.43667	0.0:0.6606:0.0:0.3394	.	42;42;42;57;57	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	T	57;57;42;42;57	ENSP00000256999:N57T;ENSP00000349129:N57T;ENSP00000344131:N42T;ENSP00000431463:N42T	ENSP00000256999:N57T	N	-	2	0	FOLH1	49184249	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.775000	0.26689	-0.472000	0.06881	-0.961000	0.02630	AAT		0.328	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4C6	219432	broad.mit.edu	37	11	55433438	55433438	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:55433438G>T	ENST00000314259.3	+	1	825	c.796G>T	c.(796-798)Gac>Tac	p.D266Y		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D266Y(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACCCCATAGACAAGGCAAT	0.473																																					p.D266Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796T	11						.						105.0	102.0	103.0					11																	55433438		2200	4296	6496	55190014	SO:0001583	missense	219432	exon1			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.796G>T	11.37:g.55433438G>T	ENSP00000324769:p.Asp266Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55190014	NM_001004704	B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145055	0.37825	.	.	ENSG00000181903	ENST00000314259	T	0.00256	8.42	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.178185	0.26816	N	0.022353	T	0.00754	0.0025	H	0.97077	3.935	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.26916	-1.0089	10	0.87932	D	0	.	6.5439	0.22394	0.213:0.0:0.787:0.0	.	266	Q8NH72	OR4C6_HUMAN	Y	266	ENSP00000324769:D266Y	ENSP00000324769:D266Y	D	+	1	0	OR4C6	55190014	0.000000	0.05858	0.989000	0.46669	0.546000	0.35178	0.291000	0.18994	1.821000	0.53095	0.543000	0.68304	GAC		0.473	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
OR5D18	219438	broad.mit.edu	37	11	55587639	55587639	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:55587639C>A	ENST00000333976.4	+	1	554	c.534C>A	c.(532-534)ttC>ttA	p.F178L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F178L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAATCACTTCTTCTGTGAGT	0.433																																					p.F178L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C534A	11						.						218.0	200.0	206.0					11																	55587639		2200	4296	6496	55344215	SO:0001583	missense	219438	exon1			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.534C>A	11.37:g.55587639C>A	ENSP00000335025:p.Phe178Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55344215	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	17.82	3.483248	0.63962	.	.	ENSG00000186119	ENST00000333976	T	0.00346	8.01	4.85	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000964	T	0.00724	0.0024	M	0.85542	2.76	0.24291	N	0.995168	D	0.67145	0.996	D	0.80764	0.994	T	0.34900	-0.9810	10	0.87932	D	0	-60.5344	7.373	0.26813	0.0:0.769:0.0:0.231	.	178	Q8NGL1	OR5DI_HUMAN	L	178	ENSP00000335025:F178L	ENSP00000335025:F178L	F	+	3	2	OR5D18	55344215	0.002000	0.14202	0.997000	0.53966	0.938000	0.57974	-0.040000	0.12104	2.462000	0.83206	0.567000	0.79289	TTC		0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
OR5I1	10798	broad.mit.edu	37	11	55703812	55703812	+	Missense_Mutation	SNP	C	C	T	rs575836357		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:55703812C>T	ENST00000301532.3	-	1	64	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	22					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R22H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGTTCAGGGCGAGTTGGAAA	0.368																																					p.R22H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65A	11						.						61.0	58.0	59.0					11																	55703812		2201	4295	6496	55460388	SO:0001583	missense	10798	exon1			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.65G>A	11.37:g.55703812C>T	ENSP00000301532:p.Arg22His	Somatic		Capture	Illumina HiSeq	Phase_I	55460388	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.340191	0.01277	.	.	ENSG00000167825	ENST00000301532	T	0.01084	5.36	5.05	2.13	0.27403	.	0.292228	0.24846	N	0.035138	T	0.00695	0.0023	N	0.05487	-0.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.49153	-0.8969	10	0.19590	T	0.45	.	6.5935	0.22659	0.0:0.6303:0.0:0.3697	.	22	Q13606	OR5I1_HUMAN	H	22	ENSP00000301532:R22H	ENSP00000301532:R22H	R	-	2	0	OR5I1	55460388	0.000000	0.05858	0.087000	0.20705	0.612000	0.37316	-7.433000	0.00036	0.637000	0.30526	0.637000	0.83480	CGC		0.368	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
OR5F1	338674	broad.mit.edu	37	11	55761295	55761295	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:55761295A>G	ENST00000278409.1	-	1	806	c.807T>C	c.(805-807)aaT>aaC	p.N269N		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	269					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N269N(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTTTGTCCTGATTCAGGGAGT	0.473																																					p.N269N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T807C	11						.						91.0	90.0	90.0					11																	55761295		2201	4296	6497	55517871	SO:0001819	synonymous_variant	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.807T>C	11.37:g.55761295A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55517871	NM_003697	Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5J2	282775	broad.mit.edu	37	11	55944917	55944917	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:55944917C>A	ENST00000312298.1	+	1	824	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S275Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAAGTGGTTTCTATGTTCTAT	0.418																																					p.S275Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824A	11						.						108.0	110.0	109.0					11																	55944917		2201	4296	6497	55701493	SO:0001583	missense	282775	exon1			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.824C>A	11.37:g.55944917C>A	ENSP00000310788:p.Ser275Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55701493	NM_001005492	Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350415	0.24512	.	.	ENSG00000174957	ENST00000312298	T	0.00274	8.35	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.389521	0.22014	N	0.065840	T	0.01092	0.0036	H	0.95611	3.695	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.14839	-1.0458	10	0.87932	D	0	.	15.8513	0.78934	0.0:1.0:0.0:0.0	.	275	Q8NH18	OR5J2_HUMAN	Y	275	ENSP00000310788:S275Y	ENSP00000310788:S275Y	S	+	2	0	OR5J2	55701493	0.003000	0.15002	0.057000	0.19452	0.006000	0.05464	1.850000	0.39328	2.124000	0.65301	0.591000	0.81541	TCT		0.418	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492	
OR8H1	219469	broad.mit.edu	37	11	56057616	56057616	+	Missense_Mutation	SNP	T	T	G	rs367566476		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:56057616T>G	ENST00000313022.2	-	1	950	c.923A>C	c.(922-924)cAg>cCg	p.Q308P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q308P(1)|p.Q308L(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CCTGGAGTCCTGTCTTCTCTG	0.328																																					p.Q308P												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A923C	11						.	T	PRO/GLN	0,4402		0,0,2201	85.0	97.0	93.0		923	3.6	0.0	11		93	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR8H1	NM_001005199.1	76	0,1,6495	GG,GT,TT		0.0116,0.0,0.0077	benign	308/312	56057616	1,12991	2201	4295	6496	55814192	SO:0001583	missense	219469	exon1			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.923A>C	11.37:g.56057616T>G	ENSP00000323595:p.Gln308Pro	Somatic		Capture	Illumina HiSeq	Phase_I	55814192	NM_001005199	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	8.380	0.837313	0.16891	0.0	1.16E-4	ENSG00000181693	ENST00000313022	T	0.00487	7.05	3.56	3.56	0.40772	.	1.107970	0.06953	N	0.814946	T	0.00356	0.0011	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44590	-0.9318	10	0.49607	T	0.09	.	9.0723	0.36500	0.0:0.0:0.0:1.0	.	308	Q8NGG4	OR8H1_HUMAN	P	308	ENSP00000323595:Q308P	ENSP00000323595:Q308P	Q	-	2	0	OR8H1	55814192	0.002000	0.14202	0.003000	0.11579	0.023000	0.10783	0.295000	0.19065	1.564000	0.49628	0.366000	0.22137	CAG		0.328	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR8K1	390157	broad.mit.edu	37	11	56113946	56113946	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:56113946G>T	ENST00000279783.2	+	1	526	c.432G>T	c.(430-432)gaG>gaT	p.E144D		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E144D(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCATGGCAGAGAAAGTACTTT	0.398										HNSCC(65;0.19)																											p.E144D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G432T	11						.						204.0	205.0	205.0					11																	56113946		2201	4296	6497	55870522	SO:0001583	missense	390157	exon1			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.432G>T	11.37:g.56113946G>T	ENSP00000279783:p.Glu144Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55870522	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301245	0.23650	.	.	ENSG00000150261	ENST00000279783	T	0.37411	1.2	5.0	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.719532	0.12446	N	0.468191	T	0.13841	0.0335	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22871	-1.0204	10	0.15952	T	0.53	-0.8903	1.3185	0.02112	0.3437:0.1151:0.3604:0.1808	.	144	Q8NGG5	OR8K1_HUMAN	D	144	ENSP00000279783:E144D	ENSP00000279783:E144D	E	+	3	2	OR8K1	55870522	0.000000	0.05858	0.032000	0.17829	0.766000	0.43426	-2.237000	0.01200	0.140000	0.18849	0.549000	0.68633	GAG		0.398	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
OR8J1	219477	broad.mit.edu	37	11	56127899	56127899	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:56127899G>T	ENST00000303039.3	+	1	209	c.177G>T	c.(175-177)atG>atT	p.M59I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M59I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AAACCCCCATGTACTTTTTCC	0.458																																					p.M59I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G177T	11						.						175.0	157.0	163.0					11																	56127899		2201	4296	6497	55884475	SO:0001583	missense	219477	exon1			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.177G>T	11.37:g.56127899G>T	ENSP00000304060:p.Met59Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55884475	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	g	14.56	2.572622	0.45798	.	.	ENSG00000172487	ENST00000303039	T	0.09350	2.99	4.57	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.069816	0.64402	N	0.000010	T	0.25717	0.0626	H	0.96805	3.885	0.23063	N	0.998351	B	0.31989	0.35	B	0.31686	0.134	T	0.33394	-0.9870	10	0.72032	D	0.01	.	11.9565	0.52984	0.0:0.0:0.686:0.314	.	59	Q8NGP2	OR8J1_HUMAN	I	59	ENSP00000304060:M59I	ENSP00000304060:M59I	M	+	3	0	OR8J1	55884475	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	6.110000	0.71535	1.062000	0.40625	-0.132000	0.14878	ATG		0.458	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205	
OR5M3	219482	broad.mit.edu	37	11	56237232	56237232	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:56237232T>G	ENST00000312240.2	-	1	782	c.742A>C	c.(742-744)Ata>Cta	p.I248L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I248L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATAGAATATAATGACAGCT	0.488																																					p.I248L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A742C	11						.						60.0	59.0	59.0					11																	56237232		2201	4295	6496	55993808	SO:0001583	missense	219482	exon1			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.742A>C	11.37:g.56237232T>G	ENSP00000312208:p.Ile248Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55993808	NM_001004742	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	8.196	0.797070	0.16327	.	.	ENSG00000174937	ENST00000312240	T	0.00018	9.07	5.08	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.139638	0.32444	N	0.006100	T	0.00073	0.0002	N	0.05158	-0.105	0.09310	N	1	B	0.09022	0.002	B	0.19666	0.026	T	0.04930	-1.0917	10	0.35671	T	0.21	-19.0595	5.9359	0.19165	0.0:0.0904:0.1662:0.7434	.	248	Q8NGP4	OR5M3_HUMAN	L	248	ENSP00000312208:I248L	ENSP00000312208:I248L	I	-	1	0	OR5M3	55993808	0.000000	0.05858	0.416000	0.26546	0.863000	0.49368	-1.999000	0.01467	0.769000	0.33313	0.448000	0.29417	ATA		0.488	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
SLC43A3	29015	broad.mit.edu	37	11	57188508	57188508	+	Silent	SNP	C	C	T	rs375000008		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:57188508C>T	ENST00000395123.2	-	7	772	c.468G>A	c.(466-468)tcG>tcA	p.S156S	SLC43A3_ENST00000395124.1_Silent_p.S156S|SLC43A3_ENST00000529554.1_Silent_p.S156S|SLC43A3_ENST00000352187.1_Silent_p.S156S|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.S169S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	156					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S156S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TGATGATGGTCGAACGGTGTT	0.443																																					p.S156S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G468A	11						.						158.0	130.0	139.0					11																	57188508		2201	4296	6497	56945084	SO:0001819	synonymous_variant	5553	exon7			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.468G>A	11.37:g.57188508C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56945084	NM_199329	B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	CCDS7956.1																																																																																				0.443	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
OR5B17	219965	broad.mit.edu	37	11	58125668	58125668	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:58125668T>C	ENST00000357377.3	-	1	874	c.875A>G	c.(874-876)aAc>aGc	p.N292S		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N292S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACGTCTTTGTTCCTCAGGGT	0.378																																					p.N292S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A875G	11						.						131.0	127.0	129.0					11																	58125668		2201	4295	6496	57882244	SO:0001583	missense	219965	exon1			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.875A>G	11.37:g.58125668T>C	ENSP00000349945:p.Asn292Ser	Somatic		Capture	Illumina HiSeq	Phase_I	57882244	NM_001005489	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	11.42	1.633342	0.29068	.	.	ENSG00000197786	ENST00000357377	T	0.39997	1.05	2.63	2.63	0.31362	.	.	.	.	.	T	0.55065	0.1897	M	0.81802	2.56	0.23266	N	0.998015	D	0.60160	0.987	P	0.53401	0.725	T	0.47471	-0.9115	9	0.72032	D	0.01	.	9.4738	0.38858	0.0:0.0:0.0:1.0	.	292	Q8NGF7	OR5BH_HUMAN	S	292	ENSP00000349945:N292S	ENSP00000349945:N292S	N	-	2	0	OR5B17	57882244	1.000000	0.71417	0.720000	0.30636	0.010000	0.07245	3.752000	0.55172	1.071000	0.40834	0.254000	0.18369	AAC		0.378	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
OR5B17	219965	broad.mit.edu	37	11	58126055	58126055	+	Missense_Mutation	SNP	C	C	T	rs145972406	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:58126055C>T	ENST00000357377.3	-	1	487	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R163H(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAAGAGAGGCGAAATGTATC	0.413													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		22305	0.0		0.0	False		,,,				2504	0.0				p.R163H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G488A	11						.	C	HIS/ARG	11,4391	824.9+/-416.5	0,11,2190	93.0	86.0	89.0		488	-1.4	0.0	11	dbSNP_134	89	0,8590		0,0,4295	yes	missense	OR5B17	NM_001005489.1	29	0,11,6485	TT,TC,CC		0.0,0.2499,0.0847	benign	163/315	58126055	11,12981	2201	4295	6496	57882631	SO:0001583	missense	219965	exon1			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.488G>A	11.37:g.58126055C>T	ENSP00000349945:p.Arg163His	Somatic		Capture	Illumina HiSeq	Phase_I	57882631	NM_001005489	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	3.831	-0.035758	0.07497	0.002499	0.0	ENSG00000197786	ENST00000357377	T	0.00169	8.63	3.27	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	0.992833	0.08154	U	0.989562	T	0.00109	0.0003	N	0.20881	0.62	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.05225	-1.0898	10	0.39692	T	0.17	-1.4148	4.7076	0.12856	0.0:0.3439:0.2574:0.3987	.	163	Q8NGF7	OR5BH_HUMAN	H	163	ENSP00000349945:R163H	ENSP00000349945:R163H	R	-	2	0	OR5B17	57882631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.980000	0.01492	-0.132000	0.11557	-1.455000	0.01032	CGC		0.413	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
OR5B2	390190	broad.mit.edu	37	11	58190221	58190221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:58190221C>T	ENST00000302581.2	-	1	565	c.514G>A	c.(514-516)Gta>Ata	p.V172I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V172I(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGTGATGTACCAGATTGGAT	0.433																																					p.V172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	11						.						61.0	57.0	58.0					11																	58190221		2201	4295	6496	57946797	SO:0001583	missense	390190	exon1			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.514G>A	11.37:g.58190221C>T	ENSP00000303076:p.Val172Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57946797	NM_001005566	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.685485	0.00101	.	.	ENSG00000172365	ENST00000302581	T	0.00032	8.88	3.73	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.270699	0.19352	U	0.116380	T	0.00039	0.0001	N	0.00355	-1.605	0.09310	N	1	B	0.20459	0.045	B	0.30495	0.116	T	0.35968	-0.9767	10	0.02654	T	1	-5.3623	7.1106	0.25388	0.0:0.6032:0.0:0.3968	.	172	Q96R09	OR5B2_HUMAN	I	172	ENSP00000303076:V172I	ENSP00000303076:V172I	V	-	1	0	OR5B2	57946797	0.000000	0.05858	0.202000	0.23494	0.021000	0.10359	-2.194000	0.01243	0.387000	0.25024	-0.203000	0.12734	GTA		0.433	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
FAM111B	374393	broad.mit.edu	37	11	58892317	58892317	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:58892317T>G	ENST00000343597.3	+	4	938	c.747T>G	c.(745-747)atT>atG	p.I249M	FAM111B_ENST00000529618.1_Missense_Mutation_p.I219M|FAM111B_ENST00000411426.1_Missense_Mutation_p.I219M	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	249							catalytic activity (GO:0003824)	p.I249M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATAAGAAAATTTATGGAAAAC	0.353																																					p.I219M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T657G	11						.						60.0	62.0	61.0					11																	58892317		2201	4294	6495	58648893	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.747T>G	11.37:g.58892317T>G	ENSP00000341565:p.Ile249Met	Somatic		Capture	Illumina HiSeq	Phase_I	58648893	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677290	0.47886	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.35973	1.28;1.28;1.28	4.4	3.29	0.37713	.	0.638626	0.13374	N	0.392676	T	0.43344	0.1243	M	0.71036	2.16	0.09310	N	1	D	0.54772	0.968	P	0.50860	0.652	T	0.39981	-0.9587	10	0.87932	D	0	.	4.942	0.13971	0.0:0.1871:0.0:0.8129	.	249	Q6SJ93	F111B_HUMAN	M	219;219;249	ENSP00000393855:I219M;ENSP00000432875:I219M;ENSP00000341565:I249M	ENSP00000341565:I249M	I	+	3	3	FAM111B	58648893	0.001000	0.12720	0.034000	0.17996	0.022000	0.10575	0.058000	0.14301	1.978000	0.57642	0.533000	0.62120	ATT		0.353	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
GIF	2694	broad.mit.edu	37	11	59610013	59610013	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:59610013C>T	ENST00000257248.2	-	4	461	c.414G>A	c.(412-414)gcG>gcA	p.A138A	GIF_ENST00000541311.1_Silent_p.A113A	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.A138A(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GTGCCAAGATCGCTAGACTGG	0.557																																					p.A138A	NSCLC(53;1139 1245 16872 38474 42853)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G414A	11						.						95.0	80.0	85.0					11																	59610013		2201	4295	6496	59366589	SO:0001819	synonymous_variant	2694	exon4			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.414G>A	11.37:g.59610013C>T		Somatic		Capture	Illumina HiSeq	Phase_I	59366589	NM_005142	B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	CCDS7977.1																																																																																				0.557	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142	
MS4A15	219995	broad.mit.edu	37	11	60531414	60531414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:60531414G>T	ENST00000405633.3	+	2	287	c.208G>T	c.(208-210)Gag>Tag	p.E70*	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Nonsense_Mutation_p.E70*	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	70						integral component of membrane (GO:0016021)		p.E70*(1)		breast(1)|large_intestine(2)|lung(3)	6						CCTGACAGGAGAGCCCAAAGT	0.567																																					p.E70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G208T	11						.						18.0	20.0	20.0					11																	60531414		2001	4155	6156	60287990	SO:0001587	stop_gained	219995	exon2			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.208G>T	11.37:g.60531414G>T	ENSP00000386022:p.Glu70*	Somatic		Capture	Illumina HiSeq	Phase_I	60287990	NM_001098835	A9UJY6|A9UJY7|F2Z2J5	Nonsense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	36	5.964283	0.97151	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.4308	14.2397	0.65950	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000386022:E70X	E	+	1	0	MS4A15	60287990	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.923000	0.48868	2.404000	0.81709	0.462000	0.41574	GAG		0.567	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		
TMEM132A	54972	broad.mit.edu	37	11	60701095	60701095	+	Missense_Mutation	SNP	C	C	T	rs151003082		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:60701095C>T	ENST00000453848.2	+	8	1596	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R481C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	480						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R481C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711																																					p.R481C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1441T	11						.	C	CYS/ARG,CYS/ARG	1,4389		0,1,2194	17.0	22.0	20.0		1441,1438	4.7	1.0	11	dbSNP_134	20	0,8590		0,0,4295	no	missense,missense	TMEM132A	NM_017870.3,NM_178031.2	180,180	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	481/1025,480/1024	60701095	1,12979	2195	4295	6490	60457671	SO:0001583	missense	54972	exon8			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1438C>T	11.37:g.60701095C>T	ENSP00000405823:p.Arg480Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60457671	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.231027|4.231027	0.79688|0.79688	2.28E-4|2.28E-4	0.0|0.0	ENSG00000006118|ENSG00000006118	ENST00000536409|ENST00000444690;ENST00000453848;ENST00000005286	.|T;T	.|0.14022	.|2.54;2.54	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.197247	.|0.36134	.|N	.|0.002780	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.50333|0.50333	1.59|1.59	0.49213|0.49213	D|D	0.999761|0.999761	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74674	.|0.978;0.978;0.984	T|T	0.01537|0.01537	-1.1330|-1.1330	5|10	.|0.87932	.|D	.|0	.|.	13.4949|13.4949	0.61419|0.61419	0.0:0.843:0.157:0.0|0.0:0.843:0.157:0.0	.|.	.|231;480;481	.|Q24JP5-4;Q24JP5;Q24JP5-2	.|.;T132A_HUMAN;.	V|C	71|231;480;481	.|ENSP00000405823:R480C;ENSP00000005286:R481C	.|ENSP00000005286:R481C	A|R	+|+	2|1	0|0	TMEM132A|TMEM132A	60457671|60457671	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.971000|0.971000	0.29396|0.29396	2.343000|2.343000	0.79666|0.79666	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.711	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
DAK	26007	broad.mit.edu	37	11	61113336	61113336	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:61113336C>A	ENST00000394900.3	+	17	1722	c.1493C>A	c.(1492-1494)tCt>tAt	p.S498Y	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	498	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.S498Y(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGCTGGATTCTCTGTGGGCA	0.592																																					p.S498Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1493A	11						.						76.0	80.0	78.0					11																	61113336		2203	4299	6502	60869912	SO:0001583	missense	26007	exon17				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1493C>A	11.37:g.61113336C>A	ENSP00000378360:p.Ser498Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	60869912	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403457	0.96051	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.31247	1.5;1.5	5.91	5.91	0.95273	Dak phosphatase (3);	0.179175	0.50627	D	0.000106	T	0.43897	0.1268	L	0.39245	1.2	0.51767	D	0.999932	P;P	0.49961	0.93;0.779	P;P	0.53988	0.739;0.704	T	0.21314	-1.0249	10	0.87932	D	0	-7.415	20.2963	0.98556	0.0:1.0:0.0:0.0	.	498;498	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	Y	498;497	ENSP00000378360:S498Y;ENSP00000432539:S497Y	ENSP00000378360:S498Y	S	+	2	0	DAK	60869912	0.930000	0.31532	1.000000	0.80357	0.996000	0.88848	6.556000	0.73932	2.813000	0.96785	0.655000	0.94253	TCT		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	
AHNAK	79026	broad.mit.edu	37	11	62286460	62286460	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62286460G>T	ENST00000378024.4	-	5	15703	c.15429C>A	c.(15427-15429)gtC>gtA	p.V5143V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5143					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V5143V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGACCTTGGGAG	0.527																																					p.V5143V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15429A	11						.						95.0	93.0	94.0					11																	62286460		2202	4299	6501	62043036	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15429C>A	11.37:g.62286460G>T		Somatic		Capture	Illumina HiSeq	Phase_I	62043036	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62296324	62296324	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62296324G>T	ENST00000378024.4	-	5	5839	c.5565C>A	c.(5563-5565)atC>atA	p.I1855I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1855					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGCATGGAGATCTTGGGGG	0.527																																					p.I1855I												.	.	0			c.C5565A	11						.						195.0	206.0	202.0					11																	62296324		2202	4297	6499	62052900	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5565C>A	11.37:g.62296324G>T		None		Capture	Illumina HiSeq	Phase_I	62052900	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
EEF1G	1937	broad.mit.edu	37	11	62339344	62339344	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62339344G>T	ENST00000329251.4	-	3	331	c.201C>A	c.(199-201)ttC>ttA	p.F67L	EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.F117L	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	67	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)	p.F67L(1)|p.F67F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAAACACACAGAATCCATCAT	0.448																																					p.F67L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)	c.C201A	11						.						46.0	44.0	45.0					11																	62339344		1930	4132	6062	62095920	SO:0001583	missense	1937	exon3			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.201C>A	11.37:g.62339344G>T	ENSP00000331901:p.Phe67Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62095920	NM_001404	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	De_novo_Start_OutOfFrame	SNP	ENST00000329251.4	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797646	0.31777	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.04917	3.53;3.53	4.85	4.85	0.62838	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.42487	1.325	0.54753	D	0.999988	P;B	0.37038	0.579;0.056	B;B	0.41988	0.372;0.035	T	0.27872	-1.0061	10	0.31617	T	0.26	.	9.4624	0.38792	0.0976:0.0:0.9024:0.0	.	117;67	B4DTG2;P26641	.;EF1G_HUMAN	L	67;117	ENSP00000331901:F67L;ENSP00000367258:F117L	ENSP00000331901:F67L	F	-	3	2	EEF1G	62095920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.525000	0.60559	2.399000	0.81585	0.563000	0.77884	TTC		0.448	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404	
MTA2	9219	broad.mit.edu	37	11	62362459	62362459	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62362459C>A	ENST00000278823.2	-	15	1956	c.1567G>T	c.(1567-1569)Gat>Tat	p.D523Y	MTA2_ENST00000527204.1_Missense_Mutation_p.D350Y|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.D350Y	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	523					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D523Y(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ATACCCAGATCTTTGACGATA	0.527																																					p.D523Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567T	11						.						142.0	144.0	143.0					11																	62362459		2202	4299	6501	62119035	SO:0001583	missense	9219	exon15			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1567G>T	11.37:g.62362459C>A	ENSP00000278823:p.Asp523Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62119035	NM_004739	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	6.744	0.506010	0.12883	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.41400	1.61;1.0;1.0	5.73	5.73	0.89815	.	0.135645	0.64402	D	0.000003	T	0.28366	0.0701	N	0.13235	0.315	0.80722	D	1	P	0.48407	0.91	B	0.44315	0.446	T	0.08576	-1.0715	10	0.02654	T	1	-13.3021	17.3974	0.87450	0.0:1.0:0.0:0.0	.	523	O94776	MTA2_HUMAN	Y	523;350;350	ENSP00000278823:D523Y;ENSP00000431346:D350Y;ENSP00000431797:D350Y	ENSP00000278823:D523Y	D	-	1	0	MTA2	62119035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.290000	0.51755	2.706000	0.92434	0.655000	0.94253	GAT		0.527	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
MTA2	9219	broad.mit.edu	37	11	62367706	62367706	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62367706T>G	ENST00000278823.2	-	3	511	c.122A>C	c.(121-123)aAg>aCg	p.K41T	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	41	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K41T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						acagacaacctttgcctccac	0.433																																					p.K41T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A122C	11						.						114.0	115.0	115.0					11																	62367706		2202	4299	6501	62124282	SO:0001583	missense	9219	exon3			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.122A>C	11.37:g.62367706T>G	ENSP00000278823:p.Lys41Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62124282	NM_004739	Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661379	0.88154	.	.	ENSG00000149480	ENST00000278823	D	0.86562	-2.14	5.56	5.56	0.83823	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.93790	0.7091	10	0.59425	D	0.04	-17.2401	12.1236	0.53905	0.0:0.0:0.0:1.0	.	41	O94776	MTA2_HUMAN	T	41	ENSP00000278823:K41T	ENSP00000278823:K41T	K	-	2	0	MTA2	62124282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.756000	0.62205	2.125000	0.65367	0.533000	0.62120	AAG		0.433	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
ZBTB3	79842	broad.mit.edu	37	11	62519594	62519594	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62519594C>A	ENST00000394807.3	-	2	1818	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	565					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.D565Y(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AATACAAAATCTTTAGGTGGC	0.542																																					p.D565Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693T	11						.						84.0	78.0	80.0					11																	62519594		2202	4299	6501	62276170	SO:0001583	missense	79842	exon2			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1693G>T	11.37:g.62519594C>A	ENSP00000378286:p.Asp565Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62276170	NM_024784		Missense_Mutation	SNP	ENST00000394807.3	37	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484580	0.63962	.	.	ENSG00000185670	ENST00000394807	T	0.13307	2.6	4.3	3.36	0.38483	.	0.630678	0.13227	N	0.403915	T	0.09774	0.0240	N	0.19112	0.55	0.24338	N	0.994973	P	0.47350	0.894	B	0.41813	0.367	T	0.12915	-1.0529	10	0.72032	D	0.01	.	8.7006	0.34323	0.0:0.8855:0.0:0.1145	.	565	Q9H5J0	ZBTB3_HUMAN	Y	565	ENSP00000378286:D565Y	ENSP00000378286:D565Y	D	-	1	0	ZBTB3	62276170	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.984000	0.56923	2.130000	0.65690	0.561000	0.74099	GAT		0.542	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784	
SLC22A6	9356	broad.mit.edu	37	11	62747339	62747339	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62747339G>T	ENST00000377871.3	-	7	1385	c.1119C>A	c.(1117-1119)atC>atA	p.I373I	SLC22A6_ENST00000458333.2_Silent_p.I373I|SLC22A6_ENST00000537349.1_Intron|SLC22A6_ENST00000421062.2_Silent_p.I373I|SLC22A6_ENST00000360421.4_Silent_p.I373I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	373					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.I373I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CAGCACCAAAGATCACCTGGA	0.572																																					p.I373I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119A	11						.						68.0	65.0	66.0					11																	62747339		2201	4298	6499	62503915	SO:0001819	synonymous_variant	9356	exon7			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1119C>A	11.37:g.62747339G>T		Somatic		Capture	Illumina HiSeq	Phase_I	62503915	NM_004790	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	CCDS31591.1																																																																																				0.572	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790	
SLC22A8	9376	broad.mit.edu	37	11	62782286	62782286	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:62782286A>G	ENST00000336232.2	-	2	280	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	SLC22A8_ENST00000430500.2_Missense_Mutation_p.C49R|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.C49R|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	49					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.C49R(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGCGGGCGACAGTGGTGGACA	0.607																																					p.C49R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T145C	11						.						170.0	178.0	176.0					11																	62782286		2201	4298	6499	62538862	SO:0001583	missense	9376	exon2			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.145T>C	11.37:g.62782286A>G	ENSP00000337335:p.Cys49Arg	Somatic		Capture	Illumina HiSeq	Phase_I	62538862	NM_001184732	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942165	0.53079	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.56275	0.47;0.47;0.47	5.04	5.04	0.67666	.	0.099617	0.64402	D	0.000001	T	0.79656	0.4483	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85433	0.1150	10	0.87932	D	0	.	12.7713	0.57423	1.0:0.0:0.0:0.0	.	49;49	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	R	49;35;49;49	ENSP00000337335:C49R;ENSP00000311463:C49R;ENSP00000398548:C49R	ENSP00000311463:C49R	C	-	1	0	SLC22A8	62538862	1.000000	0.71417	0.998000	0.56505	0.203000	0.24098	7.934000	0.87649	2.103000	0.63969	0.533000	0.62120	TGT		0.607	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
SLC22A9	114571	broad.mit.edu	37	11	63149633	63149633	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:63149633T>G	ENST00000279178.3	+	6	1206	c.957T>G	c.(955-957)atT>atG	p.I319M	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	319					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.I319M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGTTGAAGATTTTGAAATCCA	0.413																																					p.I319M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T957G	11						.						143.0	148.0	147.0					11																	63149633		2201	4298	6499	62906209	SO:0001583	missense	114571	exon6			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.957T>G	11.37:g.63149633T>G	ENSP00000279178:p.Ile319Met	Somatic		Capture	Illumina HiSeq	Phase_I	62906209	NM_080866	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157985	0.38119	.	.	ENSG00000149742	ENST00000279178	T	0.65916	-0.18	3.53	1.14	0.20703	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.41442	0.1159	N	0.02802	-0.49	0.58432	D	0.99999	P	0.45283	0.855	P	0.50860	0.652	T	0.25847	-1.0120	9	0.41790	T	0.15	.	4.8722	0.13639	0.0:0.3001:0.0:0.6999	.	319	Q8IVM8	S22A9_HUMAN	M	319	ENSP00000279178:I319M	ENSP00000279178:I319M	I	+	3	3	SLC22A9	62906209	0.001000	0.12720	0.379000	0.26080	0.670000	0.39368	-0.222000	0.09190	0.140000	0.18849	0.113000	0.15668	ATT		0.413	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
HRASLS2	54979	broad.mit.edu	37	11	63327625	63327625	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:63327625G>T	ENST00000255695.1	-	2	108	c.50C>A	c.(49-51)tCt>tAt	p.S17Y		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	17					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)	p.S17Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCCAAAGCGAGAAATCTCAAT	0.517																																					p.S17Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C50A	11						.						224.0	216.0	218.0					11																	63327625		2201	4298	6499	63084201	SO:0001583	missense	54979	exon2				CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.50C>A	11.37:g.63327625G>T	ENSP00000255695:p.Ser17Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	63084201	NM_017878	B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802494	0.50315	.	.	ENSG00000133328	ENST00000255695	T	0.23147	1.92	4.86	-4.9	0.03094	.	1.141490	0.06815	U	0.791059	T	0.13243	0.0321	N	0.10837	0.055	0.09310	N	1	B	0.26002	0.139	B	0.36030	0.216	T	0.41538	-0.9503	10	0.02654	T	1	-2.2185	11.4381	0.50081	0.7467:0.0:0.2533:0.0	.	17	Q9NWW9	HRSL2_HUMAN	Y	17	ENSP00000255695:S17Y	ENSP00000255695:S17Y	S	-	2	0	HRASLS2	63084201	0.000000	0.05858	0.001000	0.08648	0.870000	0.49936	-0.488000	0.06497	-0.958000	0.03622	-1.012000	0.02466	TCT		0.517	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878	
RASGRP2	10235	broad.mit.edu	37	11	64508453	64508453	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:64508453C>T	ENST00000354024.3	-	5	590	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	RASGRP2_ENST00000377489.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377494.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377486.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394430.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377487.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394429.1_3'UTR	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	113	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.R175Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGTGCCGTCGGTTCCCTTC	0.557											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R113Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338A	11						.						75.0	60.0	65.0					11																	64508453		2201	4297	6498	64265029	SO:0001583	missense	10235	exon5			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.338G>A	11.37:g.64508453C>T	ENSP00000338864:p.Arg113Gln	Somatic	1077	Capture	Illumina HiSeq	Phase_I	64265029	NM_001098670	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288320	0.40494	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.17	3.26	0.37387	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.124638	0.52532	D	0.000061	T	0.19927	0.0479	L	0.29908	0.895	0.27386	N	0.955262	B	0.28082	0.2	B	0.18871	0.023	T	0.10894	-1.0610	10	0.28530	T	0.3	-2.0811	11.4556	0.50181	0.1819:0.8181:0.0:0.0	.	113	Q7LDG7	GRP2_HUMAN	Q	113	ENSP00000366714:R113Q;ENSP00000377953:R113Q;ENSP00000366717:R113Q;ENSP00000338864:R113Q;ENSP00000399114:R113Q;ENSP00000366706:R113Q;ENSP00000366707:R113Q;ENSP00000366709:R113Q;ENSP00000377951:R113Q	ENSP00000338864:R113Q	R	-	2	0	RASGRP2	64265029	0.928000	0.31464	0.915000	0.36163	0.781000	0.44180	1.742000	0.38248	0.879000	0.35944	-0.678000	0.03780	CGA		0.557	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
SF1	7536	broad.mit.edu	37	11	64535712	64535712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:64535712C>A	ENST00000377390.3	-	9	1271	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	SF1_ENST00000422298.2_Nonsense_Mutation_p.E197*|SF1_ENST00000433274.2_Nonsense_Mutation_p.E286*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Nonsense_Mutation_p.E312*|SF1_ENST00000334944.5_Nonsense_Mutation_p.E312*|SF1_ENST00000377387.1_Nonsense_Mutation_p.E437*|SF1_ENST00000377394.3_Nonsense_Mutation_p.E312*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	312					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E312*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GACAAATATTCTTTATCCATC	0.557											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E312X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G934T	11						.						97.0	82.0	87.0					11																	64535712		2201	4297	6498	64292288	SO:0001587	stop_gained	7536	exon9			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.934G>T	11.37:g.64535712C>A	ENSP00000366607:p.Glu312*	Somatic	1077	Capture	Illumina HiSeq	Phase_I	64292288	NM_201998	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Nonsense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	40	8.078550	0.98643	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	.	.	.	5.51	5.51	0.81932	.	0.270585	0.37053	N	0.002278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9104	0.86139	0.0:1.0:0.0:0.0	.	.	.	.	X	437;312;312;312;312;197;286;33	.	ENSP00000227503:E312X	E	-	1	0	SF1	64292288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.243000	0.78219	2.598000	0.87819	0.561000	0.74099	GAA		0.557	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
BATF2	116071	broad.mit.edu	37	11	64756783	64756783	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:64756783T>C	ENST00000301887.4	-	3	773	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	BATF2_ENST00000527716.1_Missense_Mutation_p.T191A|BATF2_ENST00000435842.2_Missense_Mutation_p.T130A	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	215					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T215A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TTCCCTCTGGTGGGATGCTCC	0.647																																					p.T215A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A643G	11						.						42.0	42.0	42.0					11																	64756783		2201	4297	6498	64513359	SO:0001583	missense	116071	exon3			AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"""basic leucine zipper proteins"""	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.643A>G	11.37:g.64756783T>C	ENSP00000301887:p.Thr215Ala	Somatic		Capture	Illumina HiSeq	Phase_I	64513359	NM_138456	D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Missense_Mutation	SNP	ENST00000301887.4	37	CCDS8087.1	.	.	.	.	.	.	.	.	.	.	T	8.374	0.836035	0.16891	.	.	ENSG00000168062	ENST00000301887;ENST00000435842;ENST00000527716	T	0.49720	0.77	4.82	-0.393	0.12438	.	1.028750	0.07770	N	0.951628	T	0.26955	0.0660	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18241	-1.0343	10	0.31617	T	0.26	-0.5318	3.56	0.07878	0.1595:0.278:0.0:0.5625	.	215	Q8N1L9	BATF2_HUMAN	A	215;130;191	ENSP00000301887:T215A	ENSP00000301887:T215A	T	-	1	0	BATF2	64513359	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.845000	0.04340	-0.240000	0.09696	-0.421000	0.06004	ACC		0.647	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385478.2	NM_138456	
SIPA1	6494	broad.mit.edu	37	11	65413780	65413780	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:65413780G>A	ENST00000394224.3	+	7	1648	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	SIPA1_ENST00000527525.1_Missense_Mutation_p.R451H|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.R451H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R451H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	451	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)	p.R451H(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACCACCATCCGCTCGCACTTC	0.632																																					p.R451H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1352A	11						.						118.0	106.0	110.0					11																	65413780		2201	4297	6498	65170356	SO:0001583	missense	6494	exon7			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1352G>A	11.37:g.65413780G>A	ENSP00000377771:p.Arg451His	Somatic		Capture	Illumina HiSeq	Phase_I	65170356	NM_006747	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632717	0.87660	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.03	4.03	0.46877	Rap/ran-GAP (2);	0.000000	0.46442	U	0.000292	D	0.97813	0.9282	H	0.94385	3.53	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.81914	0.917;0.995	D	0.98611	1.0663	10	0.87932	D	0	-18.0817	14.0667	0.64834	0.0:0.0:1.0:0.0	.	451;451	F6RY50;Q96FS4	.;SIPA1_HUMAN	H	451	ENSP00000436269:R451H;ENSP00000433686:R451H;ENSP00000377771:R451H;ENSP00000377774:R451H	ENSP00000377771:R451H	R	+	2	0	SIPA1	65170356	1.000000	0.71417	0.995000	0.50966	0.689000	0.40095	6.401000	0.73256	2.260000	0.74910	0.462000	0.41574	CGC		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747	
SYT12	91683	broad.mit.edu	37	11	66813267	66813267	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:66813267G>T	ENST00000393946.2	+	10	2173	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	SYT12_ENST00000527043.1_Missense_Mutation_p.K337N|SYT12_ENST00000525457.1_Missense_Mutation_p.K337N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	337	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.K337N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGAGCAAAAAGAAGACAGCCG	0.592																																					p.K337N	Ovarian(65;2862 3307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1011T	11						.						103.0	85.0	91.0					11																	66813267		2200	4295	6495	66569843	SO:0001583	missense	91683	exon7			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1011G>T	11.37:g.66813267G>T	ENSP00000377520:p.Lys337Asn	Somatic		Capture	Illumina HiSeq	Phase_I	66569843	NM_001177880		Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620577	0.66787	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.70749	-0.51;-0.51;-0.51	5.03	3.06	0.35304	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.86805	2.84	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.83037	-0.0159	10	0.87932	D	0	.	8.8749	0.35339	0.1959:0.0:0.8041:0.0	.	337	Q8IV01	SYT12_HUMAN	N	337	ENSP00000377520:K337N;ENSP00000431400:K337N;ENSP00000435316:K337N	ENSP00000377520:K337N	K	+	3	2	SYT12	66569843	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.491000	0.53252	0.459000	0.27016	-0.367000	0.07326	AAG		0.592	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963	
TCIRG1	10312	broad.mit.edu	37	11	67815433	67815433	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:67815433C>T	ENST00000265686.3	+	13	1656	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000532635.1_Silent_p.I300I	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	516					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.I516I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCTTTGGCATCGATCCTGTGA	0.647																																					p.I516I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1548T	11						.						107.0	84.0	92.0					11																	67815433		2198	4294	6492	67572009	SO:0001819	synonymous_variant	10312	exon13			AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1548C>T	11.37:g.67815433C>T		Somatic		Capture	Illumina HiSeq	Phase_I	67572009	NM_006019	O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	CCDS8177.1																																																																																				0.647	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019	
MRGPRD	116512	broad.mit.edu	37	11	68747840	68747840	+	Missense_Mutation	SNP	G	G	A	rs146025023	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:68747840G>A	ENST00000309106.3	-	1	615	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	206						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R206W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGCTCCTCCGCACCCAGACA	0.622													G|||	20	0.00399361	0.0068	0.0014	5008	,	,		18686	0.0		0.0	False		,,,				2504	0.0102				p.R206W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616T	11						.	G	TRP/ARG	46,4354	47.5+/-82.1	0,46,2154	41.0	39.0	40.0		616	1.9	0.0	11	dbSNP_134	40	0,8588		0,0,4294	yes	missense	MRGPRD	NM_198923.2	101	0,46,6448	AA,AG,GG		0.0,1.0455,0.3542	probably-damaging	206/322	68747840	46,12942	2200	4294	6494	68504416	SO:0001583	missense	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.616C>T	11.37:g.68747840G>A	ENSP00000310631:p.Arg206Trp	Somatic		Capture	Illumina HiSeq	Phase_I	68504416	NM_198923	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	14.71	2.616479	0.46736	0.010455	0.0	ENSG00000172938	ENST00000309106	T	0.41400	1.0	4.85	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.664574	0.12446	U	0.468233	T	0.47266	0.1436	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.39354	-0.9618	10	0.56958	D	0.05	-8.7257	1.9094	0.03284	0.1781:0.1605:0.4956:0.1658	.	206	Q8TDS7	MRGRD_HUMAN	W	206	ENSP00000310631:R206W	ENSP00000310631:R206W	R	-	1	2	MRGPRD	68504416	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.436000	0.06922	0.100000	0.17581	0.446000	0.29264	CGG		0.622	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
PPFIA1	8500	broad.mit.edu	37	11	70189942	70189942	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:70189942G>A	ENST00000253925.7	+	15	2090	c.1875G>A	c.(1873-1875)gcG>gcA	p.A625A	PPFIA1_ENST00000389547.3_Silent_p.A625A|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	625					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.A625A(2)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCCGACGCGCACACACTAG	0.562																																					p.A625A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1875A	11						.						82.0	55.0	64.0					11																	70189942		2200	4294	6494	69867590	SO:0001819	synonymous_variant	8500	exon15			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1875G>A	11.37:g.70189942G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69867590	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	5.441	0.266427	0.10294	.	.	ENSG00000131626	ENST00000528750	.	.	.	5.3	-5.39	0.02664	.	.	.	.	.	T	0.36441	0.0967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33752	-0.9856	4	.	.	.	.	1.3365	0.02145	0.3847:0.2728:0.1559:0.1867	.	.	.	.	H	29	.	.	R	+	2	0	PPFIA1	69867590	0.000000	0.05858	0.446000	0.26920	0.439000	0.31926	-1.996000	0.01471	-1.648000	0.01510	-0.367000	0.07326	CGC		0.562	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
PPFIA1	8500	broad.mit.edu	37	11	70221057	70221057	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:70221057G>A	ENST00000253925.7	+	24	3388	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R1058H|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1058	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R1058H(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGAGTGATTCGCTGGATCCTG	0.408																																					p.R1058H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3173A	11						.						139.0	124.0	129.0					11																	70221057		2200	4294	6494	69898705	SO:0001583	missense	8500	exon24			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3173G>A	11.37:g.70221057G>A	ENSP00000253925:p.Arg1058His	Somatic		Capture	Illumina HiSeq	Phase_I	69898705	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761704	0.31228	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	D;D	0.84944	-1.92;-1.92	5.75	3.89	0.44902	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.683493	0.14346	N	0.325429	T	0.78898	0.4356	L	0.45744	1.44	0.29193	N	0.875758	B;B;B	0.13594	0.001;0.001;0.008	B;B;B	0.06405	0.0;0.001;0.002	T	0.67373	-0.5687	10	0.28530	T	0.3	.	8.8172	0.35002	0.3411:0.0:0.6588:0.0	.	555;1058;1058	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	H	1058;1058;555	ENSP00000253925:R1058H;ENSP00000374198:R1058H	ENSP00000253925:R1058H	R	+	2	0	PPFIA1	69898705	0.055000	0.20627	0.930000	0.37139	0.844000	0.47949	0.573000	0.23699	0.782000	0.33613	0.650000	0.86243	CGC		0.408	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
PDE2A	5138	broad.mit.edu	37	11	72301616	72301616	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:72301616G>A	ENST00000334456.5	-	8	803	c.558C>T	c.(556-558)gtC>gtT	p.V186V	PDE2A_ENST00000444035.2_Silent_p.V177V|PDE2A_ENST00000418754.2_Silent_p.V71V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Silent_p.V179V|PDE2A_ENST00000540345.1_Silent_p.V177V|RP11-169D4.2_ENST00000545254.1_RNA	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	186					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.V186V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TCCGCAGGGCGACCAGGGTCT	0.736																																					p.V186V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	11						.						3.0	4.0	4.0					11																	72301616		1924	3810	5734	71979264	SO:0001819	synonymous_variant	5138	exon8			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.558C>T	11.37:g.72301616G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71979264	NM_002599	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	CCDS8216.1																																																																																				0.736	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599	
ARAP1	116985	broad.mit.edu	37	11	72413967	72413967	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:72413967C>T	ENST00000393609.3	-	15	2352	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q	ARAP1_ENST00000455638.2_Missense_Mutation_p.R717Q|ARAP1_ENST00000429686.1_Missense_Mutation_p.R411Q|ARAP1_ENST00000495878.1_5'Flank|ARAP1_ENST00000359373.5_Missense_Mutation_p.R717Q|ARAP1_ENST00000393605.3_Missense_Mutation_p.R477Q|ARAP1_ENST00000334211.8_Missense_Mutation_p.R472Q|ARAP1_ENST00000426523.1_Missense_Mutation_p.R472Q|ARAP1-AS2_ENST00000500163.2_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	717					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R477Q(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCGGTTGTTCCGAAGGAATTC	0.642																																					p.R717Q	Ovarian(102;1198 1520 13195 17913 37529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2150A	11						.						30.0	27.0	28.0					11																	72413967		2163	4253	6416	72091615	SO:0001583	missense	116985	exon15			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2150G>A	11.37:g.72413967C>T	ENSP00000377233:p.Arg717Gln	Somatic		Capture	Illumina HiSeq	Phase_I	72091615	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086413	0.36855	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	T;T;T;T;T;T;T;T;T	0.54479	2.79;2.79;2.79;2.79;2.79;2.79;2.79;0.57;1.56	4.75	3.84	0.44239	.	0.275715	0.32416	N	0.006132	T	0.34077	0.0885	L	0.40543	1.245	0.19945	N	0.999947	P;P;P;P;P	0.43938	0.513;0.456;0.712;0.513;0.822	B;B;B;B;B	0.34452	0.056;0.028;0.14;0.083;0.183	T	0.19549	-1.0302	10	0.30854	T	0.27	.	5.8672	0.18781	0.2861:0.621:0.0:0.0929	.	472;411;717;717;477	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Q	717;717;477;472;717;472;411;5;5;506	ENSP00000352332:R717Q;ENSP00000390461:R717Q;ENSP00000377230:R477Q;ENSP00000335506:R472Q;ENSP00000377233:R717Q;ENSP00000392264:R472Q;ENSP00000403127:R411Q;ENSP00000411452:R5Q;ENSP00000399118:R5Q	ENSP00000335506:R472Q	R	-	2	0	ARAP1	72091615	0.019000	0.18553	0.997000	0.53966	0.936000	0.57629	1.144000	0.31565	1.203000	0.43233	0.563000	0.77884	CGG		0.642	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
C2CD3	26005	broad.mit.edu	37	11	73785358	73785358	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:73785358A>G	ENST00000334126.7	-	24	5117	c.4891T>C	c.(4891-4893)Ttg>Ctg	p.L1631L	C2CD3_ENST00000313663.7_Silent_p.L1631L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1631	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.L1631L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTTCCATCCAAATCAGCAGGG	0.547																																					p.L1631L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4891C	11						.						111.0	97.0	102.0					11																	73785358		2200	4293	6493	73463006	SO:0001819	synonymous_variant	26005	exon24			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4891T>C	11.37:g.73785358A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73463006	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																					0.547	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
DGAT2	84649	broad.mit.edu	37	11	75507381	75507381	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:75507381G>T	ENST00000228027.7	+	5	698	c.438G>T	c.(436-438)aaG>aaT	p.K146N	DGAT2_ENST00000376262.3_Missense_Mutation_p.K103N	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	146					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.K146N(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGCTGGTGAAGACACACAACC	0.557																																					p.K146N	Melanoma(35;811 1096 8354 24009 39363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	11						.						189.0	190.0	189.0					11																	75507381		2200	4293	6493	75185029	SO:0001583	missense	84649	exon5				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.438G>T	11.37:g.75507381G>T	ENSP00000228027:p.Lys146Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75185029	NM_032564	A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944194	0.73672	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.16743	2.32;2.32	6.07	5.14	0.70334	.	0.079632	0.85682	D	0.000000	T	0.45296	0.1335	M	0.91196	3.185	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.986	T	0.51426	-0.8707	10	0.87932	D	0	-33.8707	6.0387	0.19722	0.1416:0.0:0.6954:0.163	.	103;146	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	N	55;55;146;103;100;55	ENSP00000228027:K146N;ENSP00000365438:K103N	ENSP00000228027:K146N	K	+	3	2	DGAT2	75185029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.225000	0.51246	1.541000	0.49316	0.655000	0.94253	AAG		0.557	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564	
C11orf30	56946	broad.mit.edu	37	11	76260997	76260997	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:76260997C>T	ENST00000529032.1	+	20	3776	c.3776C>T	c.(3775-3777)gCt>gTt	p.A1259V	C11orf30_ENST00000343878.3_Splice_Site_p.A1092V|C11orf30_ENST00000525919.1_Splice_Site_p.A1260V|C11orf30_ENST00000533248.1_Splice_Site_p.A1168V|C11orf30_ENST00000334736.3_Splice_Site_p.A1259V|C11orf30_ENST00000524490.1_Splice_Site_p.A1161V|C11orf30_ENST00000525038.1_Splice_Site_p.A1260V|C11orf30_ENST00000524767.1_Splice_Site_p.A1274V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1259					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A1259V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTCTTCCAGGCTATTCCTCAG	0.408																																					p.A1259V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3776T	11						.						108.0	101.0	103.0					11																	76260997		2200	4292	6492	75938645	SO:0001630	splice_region_variant	56946	exon21			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3775-1C>T	11.37:g.76260997C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75938645	NM_020193	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789644	0.16258	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719;ENST00000531793	.	.	.	5.3	5.3	0.74995	.	0.175935	0.51477	D	0.000094	T	0.19406	0.0466	N	0.02539	-0.55	0.25165	N	0.990328	B;B;B;B;B;B	0.21606	0.058;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.19946	0.027;0.0;0.001;0.001;0.0;0.001	T	0.05517	-1.0880	9	0.02654	T	1	-6.9168	19.1618	0.93535	0.0:1.0:0.0:0.0	.	1168;1260;1274;1260;1161;1259	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	V	1161;1259;1092;941;1274;1168;1260;1260;1259;232;142	.	ENSP00000334130:A1259V	A	+	2	0	C11orf30	75938645	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.393000	0.66279	2.775000	0.95449	0.585000	0.79938	GCT		0.408	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	Missense_Mutation
CAPN5	726	broad.mit.edu	37	11	76830085	76830085	+	Missense_Mutation	SNP	G	G	A	rs369845664		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:76830085G>A	ENST00000278559.3	+	9	1366	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	CAPN5_ENST00000456580.2_Missense_Mutation_p.E433K|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.E393K	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	393	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.E393K(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTACATCTTCGAAGTCAAGAA	0.587																																					p.E393K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1177A	11						.	G	LYS/GLU	0,4400		0,0,2200	68.0	55.0	60.0		1177	4.0	1.0	11		60	1,8583	1.2+/-3.3	0,1,4291	no	missense	CAPN5	NM_004055.4	56	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	benign	393/641	76830085	1,12983	2200	4292	6492	76507733	SO:0001583	missense	726	exon9				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1177G>A	11.37:g.76830085G>A	ENSP00000278559:p.Glu393Lys	Somatic		Capture	Illumina HiSeq	Phase_I	76507733	NM_004055	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519874	0.44866	0.0	1.16E-4	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.86865	-2.18;-2.18;-2.18	4.96	4.02	0.46733	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.235856	0.42682	D	0.000665	T	0.68906	0.3052	N	0.03608	-0.345	0.32119	N	0.588296	P;B;B;B	0.37038	0.579;0.069;0.018;0.148	B;B;B;B	0.31390	0.129;0.029;0.029;0.059	T	0.73726	-0.3892	10	0.25751	T	0.34	.	13.3055	0.60349	0.0813:0.0:0.9187:0.0	.	431;433;433;393	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	K	393;433;393;433;433	ENSP00000278559:E393K;ENSP00000432332:E393K;ENSP00000409996:E433K	ENSP00000278559:E393K	E	+	1	0	CAPN5	76507733	1.000000	0.71417	0.990000	0.47175	0.249000	0.25844	7.530000	0.81962	2.453000	0.82957	0.655000	0.94253	GAA		0.587	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
CLNS1A	1207	broad.mit.edu	37	11	77340861	77340861	+	Missense_Mutation	SNP	C	C	T	rs373008022|rs35303781		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:77340861C>T	ENST00000525428.1	-	2	299	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	CLNS1A_ENST00000263309.3_Missense_Mutation_p.R70Q|CLNS1A_ENST00000525064.1_Missense_Mutation_p.R70Q|CLNS1A_ENST00000532069.1_Missense_Mutation_p.R70Q|CLNS1A_ENST00000528364.1_Missense_Mutation_p.R70Q	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	70					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R70Q(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			ACAGTCACTTCGGTCCCTGGA	0.393																																					p.R70Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209A	11						.	C	GLN/ARG	1,4399	2.1+/-5.4	0,1,2199	111.0	99.0	103.0		209	-0.1	0.6	11		103	0,8584		0,0,4292	no	missense	CLNS1A	NM_001293.2	43	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	benign	70/238	77340861	1,12983	2200	4292	6492	77018509	SO:0001583	missense	1207	exon2			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.209G>A	11.37:g.77340861C>T	ENSP00000433919:p.Arg70Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77018509	NM_001293	B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	ENST00000525428.1	37	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	C	2.277	-0.365665	0.05069	2.27E-4	0.0	ENSG00000074201	ENST00000525428;ENST00000263309;ENST00000525064;ENST00000532069;ENST00000528364	T;T;T;T;T	0.28666	1.62;1.6;1.6;1.6;1.62	4.96	-0.128	0.13506	.	0.703613	0.13992	N	0.348766	T	0.17704	0.0425	N	0.25890	0.77	0.09310	N	1	B;B	0.23591	0.006;0.088	B;B	0.28139	0.001;0.086	T	0.27938	-1.0059	10	0.23302	T	0.38	-5.0009	5.1074	0.14790	0.5213:0.2282:0.2506:0.0	.	70;70	E9PMI6;P54105	.;ICLN_HUMAN	Q	70	ENSP00000433919:R70Q;ENSP00000263309:R70Q;ENSP00000433741:R70Q;ENSP00000434963:R70Q;ENSP00000434311:R70Q	ENSP00000263309:R70Q	R	-	2	0	CLNS1A	77018509	1.000000	0.71417	0.551000	0.28230	0.010000	0.07245	2.660000	0.46749	-0.102000	0.12197	-0.324000	0.08512	CGA		0.393	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293	
RSF1	51773	broad.mit.edu	37	11	77409717	77409717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:77409717G>A	ENST00000308488.6	-	7	2832	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R592*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R813*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	844					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R844*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGTCCATCGAACTTTGCCT	0.368																																					p.R844X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2530T	11						.						111.0	109.0	110.0					11																	77409717		2200	4292	6492	77087365	SO:0001587	stop_gained	51773	exon7			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2530C>T	11.37:g.77409717G>A	ENSP00000311513:p.Arg844*	Somatic		Capture	Illumina HiSeq	Phase_I	77087365	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	44	10.829010	0.99474	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	.	.	.	4.68	4.68	0.58851	.	0.000000	0.40728	N	0.001032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2646	17.7579	0.88455	0.0:0.0:1.0:0.0	.	.	.	.	X	844;592;813;645	.	ENSP00000311513:R844X	R	-	1	2	RSF1	77087365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.470000	0.73558	2.580000	0.87095	0.591000	0.81541	CGA		0.368	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
TENM4	26011	broad.mit.edu	37	11	78387407	78387407	+	Silent	SNP	G	G	A	rs542215743		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:78387407G>A	ENST00000278550.7	-	30	5748	c.5286C>T	c.(5284-5286)atC>atT	p.I1762I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1762					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.I1762I(1)									CATCGGCCCCGATGTAGTAGC	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16590	0.0		0.0	False		,,,				2504	0.0				p.I1762I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5286T	11						.						29.0	34.0	33.0					11																	78387407		2127	4249	6376	78065055	SO:0001819	synonymous_variant	26011	exon30			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5286C>T	11.37:g.78387407G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78065055	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.637	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
ANKRD42	338699	broad.mit.edu	37	11	82935967	82935967	+	Silent	SNP	G	G	A	rs145591736		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:82935967G>A	ENST00000393392.2	+	6	735	c.573G>A	c.(571-573)acG>acA	p.T191T	ANKRD42_ENST00000533342.1_Silent_p.T219T|ANKRD42_ENST00000260047.6_Silent_p.T218T|ANKRD42_ENST00000531895.1_Silent_p.T219T	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	191					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T191T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGTGCGACGCAAGTTTTAA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14204	0.0		0.0	False		,,,				2504	0.0				p.T191T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G573A	11						.	G		1,4405	2.1+/-5.4	0,1,2202	94.0	96.0	96.0		573	0.5	0.6	11	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	ANKRD42	NM_182603.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		191/390	82935967	1,13005	2203	4300	6503	82613615	SO:0001819	synonymous_variant	338699	exon6			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.573G>A	11.37:g.82935967G>A		Somatic		Capture	Illumina HiSeq	Phase_I	82613615	NM_182603	Q49A49	Silent	SNP	ENST00000393392.2	37	CCDS8265.1																																																																																				0.393	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	
CREBZF	58487	broad.mit.edu	37	11	85375578	85375578	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:85375578C>T	ENST00000527447.1	-	1	568	c.342G>A	c.(340-342)agG>agA	p.R114R	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Silent_p.R32R|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	114					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R114R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGTCCGGTTGCCTGGGGTCCA	0.672																																					p.R114R	NSCLC(172;674 2044 9050 18334 41735)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G342A	11						.						44.0	51.0	49.0					11																	85375578		1953	4164	6117	85053226	SO:0001819	synonymous_variant	58487	exon1			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.342G>A	11.37:g.85375578C>T		Somatic		Capture	Illumina HiSeq	Phase_I	85053226	NM_001039618	B2R8Q9|Q0P5U9|Q52LT3	Silent	SNP	ENST00000527447.1	37	CCDS41697.1																																																																																				0.672	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618	
CCDC83	220047	broad.mit.edu	37	11	85597249	85597249	+	Missense_Mutation	SNP	G	G	A	rs553174518		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:85597249G>A	ENST00000342404.3	+	5	566	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CCDC83_ENST00000280245.4_Missense_Mutation_p.R117H|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	117								p.R117H(2)|p.R117L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACAGATATGCGCATGCAAATA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		19021	0.001		0.0	False		,,,				2504	0.0				p.R117H												.	.	3	Substitution - Missense(3)	large_intestine(1)|lung(1)|endometrium(1)	c.G350A	11						.						61.0	56.0	58.0					11																	85597249		2203	4299	6502	85274897	SO:0001583	missense	220047	exon5			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.350G>A	11.37:g.85597249G>A	ENSP00000344512:p.Arg117His	Somatic		Capture	Illumina HiSeq	Phase_I	85274897	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093801	0.07053	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.48201	0.83;0.82	5.26	4.35	0.52113	.	0.261751	0.34110	N	0.004242	T	0.37320	0.0999	L	0.50919	1.6	0.80722	D	1	P;P	0.36048	0.534;0.534	B;B	0.28991	0.067;0.097	T	0.16247	-1.0409	9	.	.	.	-0.2256	11.0699	0.47997	0.088:0.0:0.912:0.0	.	117;117	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	H	117	ENSP00000280245:R117H;ENSP00000344512:R117H	.	R	+	2	0	CCDC83	85274897	0.996000	0.38824	0.891000	0.34965	0.054000	0.15201	1.194000	0.32174	1.200000	0.43188	0.650000	0.86243	CGC		0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	
ME3	10873	broad.mit.edu	37	11	86161372	86161372	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:86161372G>T	ENST00000393324.3	-	8	1241	c.988C>A	c.(988-990)Cac>Aac	p.H330N	ME3_ENST00000543262.1_Missense_Mutation_p.H330N|ME3_ENST00000359636.2_Missense_Mutation_p.H330N|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	330					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.H330N(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				ACAAACACGTGATTGGAAAGC	0.498																																					p.H330N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988A	11						.						108.0	94.0	99.0					11																	86161372		2202	4299	6501	85839020	SO:0001583	missense	10873	exon9			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.988C>A	11.37:g.86161372G>T	ENSP00000376998:p.His330Asn	Somatic		Capture	Illumina HiSeq	Phase_I	85839020	NM_001161586	B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.262000	0.59431	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.83	5.83	0.93111	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	L	0.46947	1.48	0.80722	D	1	B	0.20261	0.043	B	0.28916	0.096	T	0.18461	-1.0336	9	.	.	.	-21.7113	20.1184	0.97949	0.0:0.0:1.0:0.0	.	330	Q16798	MAON_HUMAN	N	330	ENSP00000352657:H330N;ENSP00000440246:H330N;ENSP00000376998:H330N;ENSP00000431182:H330N	.	H	-	1	0	ME3	85839020	1.000000	0.71417	0.996000	0.52242	0.840000	0.47671	9.751000	0.98889	2.769000	0.95229	0.655000	0.94253	CAC		0.498	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2		
PRSS23	11098	broad.mit.edu	37	11	86519362	86519362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:86519362G>A	ENST00000280258.5	+	2	1102	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PRSS23_ENST00000441050.1_Missense_Mutation_p.R194H|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	226						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R226H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGGTGAAACGCACCCATGTG	0.512																																					p.R226H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	11						.						41.0	38.0	39.0					11																	86519362		2201	4299	6500	86197010	SO:0001583	missense	11098	exon2			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.677G>A	11.37:g.86519362G>A	ENSP00000280258:p.Arg226His	Somatic		Capture	Illumina HiSeq	Phase_I	86197010	NM_007173	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479167	0.84747	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.89552	-2.53;-2.53	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91337	0.5094	9	.	.	.	-25.3862	20.6282	0.99521	0.0:0.0:1.0:0.0	.	194;226	B4E2J3;O95084	.;PRS23_HUMAN	H	226;194	ENSP00000280258:R226H;ENSP00000393015:R194H	.	R	+	2	0	PRSS23	86197010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.353000	0.97080	2.871000	0.98454	0.655000	0.94253	CGC		0.512	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173	
FAT3	120114	broad.mit.edu	37	11	92086668	92086668	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:92086668G>T	ENST00000298047.6	+	1	1407	c.1390G>T	c.(1390-1392)Gat>Tat	p.D464Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D314Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D464Y|FAT3_ENST00000541502.1_Missense_Mutation_p.D464Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	464	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D464Y(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCATAGAAGATGCAAATGA	0.438										TCGA Ovarian(4;0.039)																											p.D464Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1390T	11						.						75.0	73.0	74.0					11																	92086668		1950	4150	6100	91726316	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1390G>T	11.37:g.92086668G>T	ENSP00000298047:p.Asp464Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	91726316	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	13.83	2.354046	0.41700	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.93	5.93	0.95920	.	.	.	.	.	D	0.93400	0.7895	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95332	0.8430	9	0.87932	D	0	.	19.3249	0.94258	0.0:0.0:1.0:0.0	.	464	Q8TDW7-3	.	Y	464;464;464;314	ENSP00000298047:D464Y;ENSP00000387040:D464Y;ENSP00000443786:D464Y;ENSP00000432586:D314Y	ENSP00000298047:D464Y	D	+	1	0	FAT3	91726316	1.000000	0.71417	0.924000	0.36721	0.233000	0.25261	9.787000	0.99055	2.805000	0.96524	0.655000	0.94253	GAT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92087811	92087811	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:92087811G>T	ENST00000298047.6	+	1	2550	c.2533G>T	c.(2533-2535)Ggc>Tgc	p.G845C	FAT3_ENST00000525166.1_Missense_Mutation_p.G695C|FAT3_ENST00000409404.2_Missense_Mutation_p.G845C|FAT3_ENST00000541502.1_Missense_Mutation_p.G845C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	845	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G845C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAAGTTCAGGCATTGGTAC	0.408										TCGA Ovarian(4;0.039)																											p.G845C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2533T	11						.						90.0	85.0	86.0					11																	92087811		1927	4144	6071	91727459	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2533G>T	11.37:g.92087811G>T	ENSP00000298047:p.Gly845Cys	Somatic		Capture	Illumina HiSeq	Phase_I	91727459	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	12.86	2.065834	0.36470	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51817	4.62;4.62;0.69;4.62	5.71	-2.53	0.06326	.	.	.	.	.	T	0.43344	0.1243	L	0.42245	1.32	0.19945	N	0.999945	P	0.42123	0.771	P	0.45377	0.478	T	0.46428	-0.9192	9	0.59425	D	0.04	.	11.0857	0.48086	0.583:0.0:0.417:0.0	.	845	Q8TDW7-3	.	C	845;845;845;695	ENSP00000298047:G845C;ENSP00000387040:G845C;ENSP00000443786:G845C;ENSP00000432586:G695C	ENSP00000298047:G845C	G	+	1	0	FAT3	91727459	0.989000	0.36119	0.847000	0.33407	0.983000	0.72400	2.277000	0.43417	-0.396000	0.07703	-0.670000	0.03821	GGC		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92534393	92534393	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:92534393C>A	ENST00000298047.6	+	9	8231	c.8214C>A	c.(8212-8214)gtC>gtA	p.V2738V	FAT3_ENST00000525166.1_Silent_p.V2588V|FAT3_ENST00000409404.2_Silent_p.V2738V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2738	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2738V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCAGAATGTCTGGTTCAGCA	0.463										TCGA Ovarian(4;0.039)																											p.V2738V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C8214A	11						.						57.0	54.0	55.0					11																	92534393		1931	4143	6074	92174041	SO:0001819	synonymous_variant	120114	exon9			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8214C>A	11.37:g.92534393C>A		Somatic		Capture	Illumina HiSeq	Phase_I	92174041	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
SLC36A4	120103	broad.mit.edu	37	11	92901214	92901214	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:92901214G>T	ENST00000326402.4	-	7	794	c.664C>A	c.(664-666)Ctt>Att	p.L222I	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L87I	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	222					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L222I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGACCAAAAGAATTATAAAT	0.333																																					p.L222I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664A	11						.						116.0	115.0	116.0					11																	92901214		2201	4295	6496	92540862	SO:0001583	missense	120103	exon7			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.664C>A	11.37:g.92901214G>T	ENSP00000317382:p.Leu222Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92540862	NM_152313	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753803	0.69648	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02323	4.34;4.34;4.34	5.71	5.71	0.89125	.	0.146447	0.47455	D	0.000229	T	0.13884	0.0336	L	0.60012	1.86	0.40835	D	0.983628	D	0.69078	0.997	D	0.74674	0.984	T	0.00151	-1.1985	10	0.54805	T	0.06	-20.5752	19.8695	0.96845	0.0:0.0:1.0:0.0	.	222	Q6YBV0	S36A4_HUMAN	I	222;87;116	ENSP00000317382:L222I;ENSP00000436570:L87I;ENSP00000432061:L116I	ENSP00000317382:L222I	L	-	1	0	SLC36A4	92540862	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	8.104000	0.89551	2.684000	0.91462	0.650000	0.86243	CTT		0.333	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
HEPHL1	341208	broad.mit.edu	37	11	93815601	93815601	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:93815601G>A	ENST00000315765.9	+	10	1742	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	578	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E582E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAGACAAGGAGTTTTACCTAC	0.358																																					p.E578E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1734A	11						.						78.0	72.0	74.0					11																	93815601		1830	4085	5915	93455249	SO:0001819	synonymous_variant	341208	exon10			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1734G>A	11.37:g.93815601G>A		Somatic		Capture	Illumina HiSeq	Phase_I	93455249	NM_001098672	Q3C1W7	Silent	SNP	ENST00000315765.9	37	CCDS44710.1																																																																																				0.358	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
CEP57	9702	broad.mit.edu	37	11	95561024	95561024	+	Silent	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:95561024T>G	ENST00000325542.5	+	9	1198	c.960T>G	c.(958-960)gcT>gcG	p.A320A	CEP57_ENST00000537677.1_Silent_p.A293A|CEP57_ENST00000325486.5_Silent_p.A294A|CEP57_ENST00000541150.1_Silent_p.A311A	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	320	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.A320A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAGTAAAGCTTTGTGCAATG	0.428									Mosaic Variegated Aneuploidy Syndrome																												p.A320A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T960G	11						.						163.0	151.0	155.0					11																	95561024		2201	4298	6499	95200672	SO:0001819	synonymous_variant	9702	exon9	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.960T>G	11.37:g.95561024T>G		Somatic		Capture	Illumina HiSeq	Phase_I	95200672	NM_014679	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Silent	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	T	4.419	0.077420	0.08485	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.85	-2.03	0.07365	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35301	-0.9794	4	.	.	.	-6.5989	9.5328	0.39205	0.0:0.6386:0.0984:0.263	.	.	.	.	V	110	.	.	F	+	1	0	CEP57	95200672	0.001000	0.12720	0.003000	0.11579	0.511000	0.34104	-0.132000	0.10467	-0.326000	0.08564	0.383000	0.25322	TTT		0.428	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679	
MAML2	84441	broad.mit.edu	37	11	95712130	95712130	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:95712130G>T	ENST00000524717.1	-	5	4737	c.3453C>A	c.(3451-3453)atC>atA	p.I1151I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1151					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.I1151I(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGTTCCCCAAGATTTCATCAA	0.393			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.I1151I			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3453A	11						.						52.0	50.0	51.0					11																	95712130		1841	4102	5943	95351778	SO:0001819	synonymous_variant	84441	exon5			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3453C>A	11.37:g.95712130G>T		Somatic		Capture	Illumina HiSeq	Phase_I	95351778	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.393	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
JRKL	8690	broad.mit.edu	37	11	96124781	96124781	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:96124781T>C	ENST00000332349.4	+	2	1215	c.968T>C	c.(967-969)aTt>aCt	p.I323T	JRKL_ENST00000458427.1_Missense_Mutation_p.I323T|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	323	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I323T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		gcctcattgattcagccttca	0.393																																					p.I323T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T968C	11						.						57.0	52.0	54.0					11																	96124781		2201	4298	6499	95764429	SO:0001583	missense	8690	exon1			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.968T>C	11.37:g.96124781T>C	ENSP00000333350:p.Ile323Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95764429	NM_003772	A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871568	0.51695	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.45276	0.9;0.9	4.44	4.44	0.53790	.	0.181094	0.26432	N	0.024406	T	0.59676	0.2211	M	0.80746	2.51	0.33382	D	0.574979	D	0.69078	0.997	D	0.65233	0.933	T	0.68667	-0.5348	10	0.25106	T	0.35	-5.1137	10.3784	0.44096	0.0:0.0:0.0:1.0	.	323	Q9Y4A0	JERKL_HUMAN	T	323	ENSP00000333350:I323T;ENSP00000389989:I323T	ENSP00000333350:I323T	I	+	2	0	JRKL	95764429	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	1.721000	0.38032	1.766000	0.52107	0.260000	0.18958	ATT		0.393	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772	
CNTN5	53942	broad.mit.edu	37	11	100179143	100179143	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:100179143G>T	ENST00000524871.1	+	21	2963	c.2673G>T	c.(2671-2673)gaG>gaT	p.E891D	CNTN5_ENST00000418526.2_Missense_Mutation_p.E817D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E891D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E891D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E891D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	891	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E891D(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGTGTCAGAGATTCTTGTTG	0.388																																					p.E817D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2451T	11						.						77.0	76.0	76.0					11																	100179143		1881	4114	5995	99684353	SO:0001583	missense	53942	exon20			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2673G>T	11.37:g.100179143G>T	ENSP00000435637:p.Glu891Asp	Somatic		Capture	Illumina HiSeq	Phase_I	99684353	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510741	0.64522	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57752	2.25;0.38;0.38;0.38;0.38	5.69	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	L	0.31804	0.96	0.58432	D	0.999993	D;D	0.76494	0.998;0.999	D;D	0.80764	0.99;0.994	T	0.60444	-0.7262	10	0.40728	T	0.16	.	14.2698	0.66145	0.072:0.0:0.928:0.0	.	817;891	O94779-2;O94779	.;CNTN5_HUMAN	D	891;891;891;817;891	ENSP00000433575:E891D;ENSP00000436185:E891D;ENSP00000435637:E891D;ENSP00000393229:E817D;ENSP00000279463:E891D	ENSP00000279463:E891D	E	+	3	2	CNTN5	99684353	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.578000	0.46051	1.541000	0.49316	0.591000	0.81541	GAG		0.388	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
ELMOD1	55531	broad.mit.edu	37	11	107463144	107463144	+	Intron	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:107463144T>G	ENST00000265840.7	+	1	180				ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000529675.1_3'UTR|AP000889.3_ENST00000600612.1_Missense_Mutation_p.C114W	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCAGGCATTGTTCTGCATCTC	0.473																																					.												.	.	0			.	11						.						129.0	127.0	127.0					11																	107463144		1982	4165	6147	106968354	SO:0001627	intron_variant	643923	.			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+1009T>G	11.37:g.107463144T>G		Somatic		Capture	Illumina HiSeq	Phase_I	106968354	.	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1																																																																																				0.473	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
COLCA1	399948	broad.mit.edu	37	11	111167088	111167088	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:111167088T>C	ENST00000532918.1	-	2	2521	c.116A>G	c.(115-117)gAc>gGc	p.D39G	COLCA1_ENST00000540738.1_Missense_Mutation_p.D39G|COLCA1_ENST00000355430.4_Missense_Mutation_p.D39G|COLCA2_ENST00000398035.2_5'Flank|COLCA1_ENST00000526150.1_5'Flank			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	39						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D39G(1)									TAGCTGATCGTCAGCATCATC	0.562																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	11						.						82.0	60.0	67.0					11																	111167088		2201	4297	6498	110672298	SO:0001583	missense	399948	.			AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.116A>G	11.37:g.111167088T>C	ENSP00000437253:p.Asp39Gly	Somatic		Capture	Illumina HiSeq	Phase_I	110672298	.		Missense_Mutation	SNP	ENST00000532918.1	37		.	.	.	.	.	.	.	.	.	.	T	11.76	1.735628	0.30774	.	.	ENSG00000196167	ENST00000532918;ENST00000355430;ENST00000540738	.	.	.	3.48	-6.96	0.01622	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.30238	-0.9985	7	0.87932	D	0	.	2.6314	0.04946	0.1301:0.4243:0.2621:0.1836	.	39	Q6ZS62	CK092_HUMAN	G	39	.	ENSP00000347601:D39G	D	-	2	0	C11orf92	110672298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.231000	0.02939	-1.527000	0.01758	-0.366000	0.07423	GAC		0.562	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1		
OPCML	4978	broad.mit.edu	37	11	132527054	132527054	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr11:132527054C>T	ENST00000331898.7	-	2	906	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	OPCML_ENST00000524381.1_Missense_Mutation_p.E103K|OPCML_ENST00000541867.1_Missense_Mutation_p.E110K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.E69K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	110	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.E110K(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TACGGACCTTCGTCATACACA	0.512																																					p.E103K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307A	11						.						250.0	194.0	213.0					11																	132527054		2201	4297	6498	132032264	SO:0001583	missense	4978	exon3			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.328G>A	11.37:g.132527054C>T	ENSP00000330862:p.Glu110Lys	Somatic		Capture	Illumina HiSeq	Phase_I	132032264	NM_001012393	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833678	0.97003	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	T	0.57528	-0.7796	10	0.87932	D	0	-18.1468	20.1047	0.97888	0.0:1.0:0.0:0.0	.	110;103;110;110	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	110;103;69;77;110	ENSP00000330862:E110K;ENSP00000434750:E103K;ENSP00000363910:E69K;ENSP00000445496:E110K	ENSP00000330862:E110K	E	-	1	0	OPCML	132032264	1.000000	0.71417	0.958000	0.39756	0.923000	0.55619	7.764000	0.85297	2.762000	0.94881	0.655000	0.94253	GAA		0.512	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
ANO4	121601	broad.mit.edu	37	12	101520787	101520787	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:101520787T>C	ENST00000392977.3	+	27	3017	c.2807T>C	c.(2806-2808)cTc>cCc	p.L936P	ANO4_ENST00000392979.3_Missense_Mutation_p.L901P|ANO4_ENST00000299222.9_Missense_Mutation_p.L456P|ANO4_ENST00000550015.1_Missense_Mutation_p.L456P			Q32M45	ANO4_HUMAN	anoctamin 4	936					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L901P(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGGAACGTCTCCAGAAGGAA	0.483										HNSCC(74;0.22)																											p.L901P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2702C	12						.						125.0	95.0	105.0					12																	101520787		2203	4300	6503	100044918	SO:0001583	missense	121601	exon26			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2807T>C	12.37:g.101520787T>C	ENSP00000376703:p.Leu936Pro	Somatic		Capture	Illumina HiSeq	Phase_I	100044918	NM_178826	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.440491	0.83993	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71817	-0.59;-0.44;-0.6;-0.44	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	T	0.74786	0.3762	N	0.24115	0.695	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.997	D;D;D	0.71414	0.943;0.94;0.973	T	0.77330	-0.2628	10	0.52906	T	0.07	.	16.0416	0.80687	0.0:0.0:0.0:1.0	.	456;936;901	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	P	901;456;936;456	ENSP00000376705:L901P;ENSP00000299222:L456P;ENSP00000376703:L936P;ENSP00000450192:L456P	ENSP00000299222:L456P	L	+	2	0	ANO4	100044918	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.993000	0.88291	2.235000	0.73313	0.533000	0.62120	CTC		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
UTP20	27340	broad.mit.edu	37	12	101689350	101689350	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:101689350G>A	ENST00000261637.4	+	12	1518	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	448					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.K448K(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTCTGGCCAAGCTCATTCTGA	0.438																																					p.K448K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1344A	12						.						72.0	64.0	67.0					12																	101689350		2203	4300	6503	100213481	SO:0001819	synonymous_variant	27340	exon12			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1344G>A	12.37:g.101689350G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100213481	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																				0.438	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101777348	101777348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:101777348G>A	ENST00000261637.4	+	60	8131	c.7957G>A	c.(7957-7959)Gcc>Acc	p.A2653T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2653					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A2653T(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTCCTCGGCGCCGTAGCAAT	0.413																																					p.A2653T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7957A	12						.						119.0	104.0	109.0					12																	101777348		2203	4300	6503	100301479	SO:0001583	missense	27340	exon60			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7957G>A	12.37:g.101777348G>A	ENSP00000261637:p.Ala2653Thr	Somatic		Capture	Illumina HiSeq	Phase_I	100301479	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920192	0.73098	.	.	ENSG00000120800	ENST00000261637	T	0.05649	3.41	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00293	-1.1841	10	0.52906	T	0.07	-15.9189	19.952	0.97200	0.0:0.0:1.0:0.0	.	2653	O75691	UTP20_HUMAN	T	2653	ENSP00000261637:A2653T	ENSP00000261637:A2653T	A	+	1	0	UTP20	100301479	1.000000	0.71417	0.162000	0.22713	0.007000	0.05969	9.386000	0.97228	2.736000	0.93811	0.637000	0.83480	GCC		0.413	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
MYBPC1	4604	broad.mit.edu	37	12	102053463	102053463	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:102053463G>A	ENST00000550270.1	+	17	1706	c.1706G>A	c.(1705-1707)gGc>gAc	p.G569D	MYBPC1_ENST00000541119.1_Missense_Mutation_p.G557D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G569D|MYBPC1_ENST00000549145.1_Missense_Mutation_p.G582D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G555D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G470D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G594D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G569D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G569D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G569D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G594D|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G543D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G569D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G556D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G550D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	569	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.G594D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTATGGAAGGCAGTGGCCGG	0.408																																					p.G594D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1781A	12						.						109.0	99.0	102.0					12																	102053463		2203	4300	6503	100577594	SO:0001583	missense	4604	exon19				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1706G>A	12.37:g.102053463G>A	ENSP00000449702:p.Gly569Asp	Somatic		Capture	Illumina HiSeq	Phase_I	100577594	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	4.087	0.014106	0.07959	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.57	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119620	0.37623	N	0.002008	T	0.19525	0.0469	N	0.02854	-0.475	0.29353	N	0.865202	B;B;B;B;B;B;B;B;B;B	0.10296	0.003;0.003;0.001;0.001;0.001;0.001;0.001;0.003;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.15870	0.008;0.01;0.008;0.01;0.003;0.014;0.006;0.013;0.008;0.006	T	0.07673	-1.0760	10	0.37606	T	0.19	.	10.5834	0.45269	0.0:0.2384:0.6292:0.1324	.	550;557;569;569;556;543;569;569;594;594	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	D	543;569;569;569;556;555;594;582;569;594;569;550;557;594;470;569	ENSP00000448175:G543D;ENSP00000400908:G569D;ENSP00000388989:G569D;ENSP00000353822:G569D;ENSP00000376665:G556D;ENSP00000447362:G555D;ENSP00000354845:G594D;ENSP00000447660:G582D;ENSP00000447900:G569D;ENSP00000440034:G569D;ENSP00000446128:G550D;ENSP00000442847:G557D;ENSP00000354849:G594D;ENSP00000447116:G470D;ENSP00000449702:G569D	ENSP00000353822:G569D	G	+	2	0	MYBPC1	100577594	0.998000	0.40836	1.000000	0.80357	0.533000	0.34776	2.343000	0.44001	2.610000	0.88304	0.655000	0.94253	GGC		0.408	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
GNPTAB	79158	broad.mit.edu	37	12	102155433	102155433	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:102155433G>T	ENST00000299314.7	-	14	3086	c.2824C>A	c.(2824-2826)Cta>Ata	p.L942I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	942					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.L942I(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGCTATTTAGAATTTTATTT	0.383																																					p.L942I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2824A	12						.						157.0	149.0	152.0					12																	102155433		2203	4300	6503	100679564	SO:0001583	missense	79158	exon14			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2824C>A	12.37:g.102155433G>T	ENSP00000299314:p.Leu942Ile	Somatic		Capture	Illumina HiSeq	Phase_I	100679564	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977386	0.74360	.	.	ENSG00000111670	ENST00000299314	D	0.91351	-2.83	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93966	0.7245	10	0.59425	D	0.04	-15.6085	9.5035	0.39033	0.2004:0.0:0.7996:0.0	.	942	Q3T906	GNPTA_HUMAN	I	942	ENSP00000299314:L942I	ENSP00000299314:L942I	L	-	1	2	GNPTAB	100679564	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.346000	0.59367	1.460000	0.47911	0.655000	0.94253	CTA		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
CLEC1A	51267	broad.mit.edu	37	12	10223943	10223943	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:10223943C>T	ENST00000315330.4	-	6	894	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	CLEC1A_ENST00000457018.2_Missense_Mutation_p.E245K|CLEC1A_ENST00000420265.2_Missense_Mutation_p.E186K	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	278					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.E278K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGTCACCTTCGCCTAATGTT	0.502																																					p.E278K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	12						.						132.0	120.0	124.0					12																	10223943		2203	4300	6503	10115210	SO:0001583	missense	51267	exon6			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.832G>A	12.37:g.10223943C>T	ENSP00000326407:p.Glu278Lys	Somatic		Capture	Illumina HiSeq	Phase_I	10115210	NM_016511	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208423	0.58343	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.01369	5.1;5.05;4.97	4.68	0.797	0.18654	.	1.275770	0.05851	N	0.621242	T	0.01092	0.0036	N	0.22421	0.69	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.48468	-0.9033	10	0.07644	T	0.81	.	3.4644	0.07544	0.3322:0.4702:0.0:0.1976	.	186;245;278	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	K	278;245;186	ENSP00000326407:E278K;ENSP00000415048:E245K;ENSP00000417010:E186K	ENSP00000326407:E278K	E	-	1	0	CLEC1A	10115210	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.414000	0.07114	-0.039000	0.13602	0.557000	0.71058	GAA		0.502	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
CLEC7A	64581	broad.mit.edu	37	12	10271167	10271167	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:10271167T>C	ENST00000304084.8	-	6	788	c.634A>G	c.(634-636)Acc>Gcc	p.T212A	CLEC7A_ENST00000353231.5_Missense_Mutation_p.T166A|CLEC7A_ENST00000396484.2_Missense_Mutation_p.T133A|CLEC7A_ENST00000298523.5_Missense_Mutation_p.Y126C|CLEC7A_ENST00000533022.1_Missense_Mutation_p.Y172C	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	212	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)	p.T166A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTTTCTTGGGTAGCTGTGGTT	0.363																																					p.T166A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A496G	12						.						157.0	150.0	152.0					12																	10271167		2203	4300	6503	10162434	SO:0001583	missense	64581	exon5			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.634A>G	12.37:g.10271167T>C	ENSP00000302569:p.Thr212Ala	Somatic		Capture	Illumina HiSeq	Phase_I	10162434	NM_022570	B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	CCDS41753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.68|13.68	2.310521|2.310521	0.40895|0.40895	.|.	.|.	ENSG00000172243|ENSG00000172243	ENST00000353231;ENST00000396484;ENST00000304084|ENST00000298523;ENST00000533022	T;T;T|T;T	0.16743|0.06528	2.32;2.32;2.32|3.3;3.29	4.03|4.03	0.0803|0.0803	0.14420|0.14420	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.859361|.	0.09955|.	N|.	0.734179|.	T|T	0.09598|0.09598	0.0236|0.0236	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|D;D	0.21147|0.60575	0.052;0.034;0.013|0.969;0.988	B;B;B|P;P	0.18561|0.53360	0.016;0.022;0.009|0.639;0.724	T|T	0.26326|0.26326	-1.0106|-1.0106	9|8	0.11485|0.39692	T|T	0.65|0.17	.|.	5.0498|5.0498	0.14503|0.14503	0.1759:0.0:0.3924:0.4317|0.1759:0.0:0.3924:0.4317	.|.	133;212;166|172;126	Q9BXN2-5;Q9BXN2;Q9BXN2-2|Q9BXN2-3;Q9BXN2-7	.;CLC7A_HUMAN;.|.;.	A|C	166;133;212|126;172	ENSP00000266456:T166A;ENSP00000379743:T133A;ENSP00000302569:T212A|ENSP00000298523:Y126C;ENSP00000431461:Y172C	ENSP00000302569:T212A|ENSP00000298523:Y126C	T|Y	-|-	1|2	0|0	CLEC7A|CLEC7A	10162434|10162434	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.833000|0.833000	0.47200|0.47200	0.014000|0.014000	0.13333|0.13333	0.012000|0.012000	0.14892|0.14892	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.363	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954	
GNPTAB	79158	broad.mit.edu	37	12	102161923	102161923	+	Missense_Mutation	SNP	G	G	A	rs143228265		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:102161923G>A	ENST00000299314.7	-	11	1562	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GNPTAB_ENST00000549940.1_Missense_Mutation_p.P434S|RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	434					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.P434S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTGGCACAGGCCATGTCAAA	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17696	0.0		0.0	False		,,,				2504	0.0				p.P434S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1300T	12						.						63.0	60.0	61.0					12																	102161923		2203	4300	6503	100686054	SO:0001583	missense	79158	exon11			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1300C>T	12.37:g.102161923G>A	ENSP00000299314:p.Pro434Ser	Somatic		Capture	Illumina HiSeq	Phase_I	100686054	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.22	3.061855	0.55432	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.91843	-2.92;-2.92	5.72	4.82	0.62117	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.92932	0.7751	L	0.51422	1.61	0.80722	D	1	B;P	0.41420	0.216;0.749	B;P	0.50896	0.17;0.653	D	0.92518	0.6022	10	0.44086	T	0.13	-17.3097	17.1253	0.86712	0.0:0.1266:0.8734:0.0	.	434;434	Q3T906-2;Q3T906	.;GNPTA_HUMAN	S	434	ENSP00000299314:P434S;ENSP00000449150:P434S	ENSP00000299314:P434S	P	-	1	0	GNPTAB	100686054	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.154000	0.94694	1.546000	0.49388	0.655000	0.94253	CCT		0.413	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
STAB2	55576	broad.mit.edu	37	12	104046386	104046386	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:104046386A>G	ENST00000388887.2	+	12	1514	c.1310A>G	c.(1309-1311)cAc>cGc	p.H437R	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.H437R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGAAACTCCACATAATTGCT	0.363																																					p.H437R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1310G	12						.						100.0	93.0	95.0					12																	104046386		2203	4300	6503	102570516	SO:0001583	missense	55576	exon12			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1310A>G	12.37:g.104046386A>G	ENSP00000373539:p.His437Arg	Somatic		Capture	Illumina HiSeq	Phase_I	102570516	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028827	0.75504	.	.	ENSG00000136011	ENST00000388887	D	0.98164	-4.76	5.82	5.82	0.92795	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	M	0.91300	3.195	0.46376	D	0.999019	D	0.89917	1.0	D	0.87578	0.998	D	0.99441	1.0938	10	0.59425	D	0.04	.	15.8573	0.78989	1.0:0.0:0.0:0.0	.	437	Q8WWQ8	STAB2_HUMAN	R	437	ENSP00000373539:H437R	ENSP00000373539:H437R	H	+	2	0	STAB2	102570516	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.515000	0.73751	2.222000	0.72286	0.533000	0.62120	CAC		0.363	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
NFYB	4801	broad.mit.edu	37	12	104517046	104517046	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:104517046A>C	ENST00000240055.3	-	5	614	c.387T>G	c.(385-387)agT>agG	p.S129R	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Missense_Mutation_p.S129R	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	129	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S129R(1)		large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTTCCACATAACTGTCAAAGC	0.333																																					p.S129R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T387G	12						.						103.0	97.0	99.0					12																	104517046		2203	4300	6503	103041176	SO:0001583	missense	4801	exon5				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.387T>G	12.37:g.104517046A>C	ENSP00000240055:p.Ser129Arg	Somatic		Capture	Illumina HiSeq	Phase_I	103041176	NM_006166	A8K7B9|Q96IY8	Missense_Mutation	SNP	ENST00000240055.3	37	CCDS9098.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.870149	0.51588	.	.	ENSG00000120837	ENST00000240055;ENST00000551727;ENST00000551446	T;T	0.22134	1.97;1.97	5.49	0.97	0.19692	Histone-fold (2);	0.076004	0.85682	D	0.000000	T	0.13756	0.0333	L	0.27053	0.805	0.48087	D	0.999582	B	0.17852	0.024	B	0.12156	0.007	T	0.08289	-1.0729	10	0.66056	D	0.02	-24.7369	9.709	0.40233	0.5616:0.0:0.4384:0.0	.	129	P25208	NFYB_HUMAN	R	129;129;130	ENSP00000240055:S129R;ENSP00000447486:S129R	ENSP00000240055:S129R	S	-	3	2	NFYB	103041176	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.901000	0.28445	0.184000	0.20083	0.482000	0.46254	AGT		0.333	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1		
EID3	493861	broad.mit.edu	37	12	104697977	104697977	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:104697977G>A	ENST00000527879.1	+	1	461	c.265G>A	c.(265-267)Gac>Aac	p.D89N	TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3									p.D89N(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGCAGCCCTCGACGCCCGGTT	0.483																																					p.D89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	12						.						70.0	74.0	72.0					12																	104697977		1938	4145	6083	103222107	SO:0001583	missense	493861	exon1			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.265G>A	12.37:g.104697977G>A	ENSP00000435619:p.Asp89Asn	Somatic		Capture	Illumina HiSeq	Phase_I	103222107	NM_001008394		Missense_Mutation	SNP	ENST00000527879.1	37	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083243	0.76642	.	.	ENSG00000255150	ENST00000527879	T	0.74737	-0.87	4.48	4.48	0.54585	.	.	.	.	.	D	0.85164	0.5634	M	0.76170	2.325	0.25071	N	0.990995	D	0.89917	1.0	D	0.97110	1.0	T	0.76107	-0.3080	9	0.87932	D	0	.	12.9194	0.58224	0.0:0.0:1.0:0.0	.	89	Q8N140	EID3_HUMAN	N	89	ENSP00000435619:D89N	ENSP00000435619:D89N	D	+	1	0	EID3	103222107	1.000000	0.71417	0.235000	0.24058	0.761000	0.43186	5.715000	0.68430	2.504000	0.84457	0.555000	0.69702	GAC		0.483	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394	
KLRD1	3824	broad.mit.edu	37	12	10464113	10464113	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:10464113T>C	ENST00000381907.4	+	5	416	c.214T>C	c.(214-216)Tgt>Cgt	p.C72R	KLRD1_ENST00000543420.1_Missense_Mutation_p.C72R|KLRD1_ENST00000543777.1_Missense_Mutation_p.C51R|KLRD1_ENST00000350274.5_Missense_Mutation_p.C41R|KLRD1_ENST00000336164.4_Missense_Mutation_p.C72R|KLRD1_ENST00000381908.3_Missense_Mutation_p.C72R|KLRD1_ENST00000538997.1_3'UTR	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.C72R(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						CCGGTGCAACTGTTACTTCAT	0.428																																					p.C72R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T214C	12						.						129.0	119.0	122.0					12																	10464113		2203	4300	6503	10355380	SO:0001583	missense	3824	exon5			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.214T>C	12.37:g.10464113T>C	ENSP00000371332:p.Cys72Arg	Somatic		Capture	Illumina HiSeq	Phase_I	10355380	NM_001114396	O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	ENST00000381907.4	37	CCDS8621.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660514	0.47572	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.77	5.77	0.91146	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000003	T	0.75982	0.3924	H	0.97707	4.06	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84098	0.0394	10	0.87932	D	0	.	12.7759	0.57448	0.0:0.0:0.0:1.0	.	51;72;41;72	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	R	41;72;72;72;41;72;51	ENSP00000438669:C41R;ENSP00000371332:C72R;ENSP00000371333:C72R;ENSP00000338130:C72R;ENSP00000310929:C41R;ENSP00000441074:C72R;ENSP00000443584:C51R	ENSP00000338130:C72R	C	+	1	0	KLRD1	10355380	0.995000	0.38212	0.910000	0.35882	0.115000	0.19883	3.648000	0.54410	2.326000	0.78906	0.533000	0.62120	TGT		0.428	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2	NM_002262	
TXNRD1	7296	broad.mit.edu	37	12	104713347	104713347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:104713347G>T	ENST00000529546.1	+	6	634	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	TXNRD1_ENST00000526950.1_Nonsense_Mutation_p.E244*|TXNRD1_ENST00000388854.3_Nonsense_Mutation_p.E227*|TXNRD1_ENST00000354940.6_Nonsense_Mutation_p.E175*|TXNRD1_ENST00000525566.1_Nonsense_Mutation_p.E325*|TXNRD1_ENST00000524698.1_Nonsense_Mutation_p.E175*|TXNRD1_ENST00000378070.4_Nonsense_Mutation_p.E274*|TXNRD1_ENST00000542918.1_Nonsense_Mutation_p.E225*|TXNRD1_ENST00000503506.2_Nonsense_Mutation_p.E175*|TXNRD1_ENST00000540716.1_Nonsense_Mutation_p.E137*|TXNRD1_ENST00000429002.2_Nonsense_Mutation_p.E325*|TXNRD1_ENST00000526691.1_Nonsense_Mutation_p.E227*|TXNRD1_ENST00000397736.2_Nonsense_Mutation_p.E219*|TXNRD1_ENST00000526390.1_Nonsense_Mutation_p.E219*|TXNRD1_ENST00000427956.1_Nonsense_Mutation_p.E290*			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	325	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E175*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGGTGACAAAGAATACTGCAT	0.398																																					p.E175X	Ovarian(139;555 1836 9186 9946 10884)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G523T	12						.						29.0	27.0	28.0					12																	104713347		1835	4084	5919	103237477	SO:0001587	stop_gained	7296	exon6				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.409G>T	12.37:g.104713347G>T	ENSP00000434919:p.Glu137*	Somatic		Capture	Illumina HiSeq	Phase_I	103237477	NM_182743	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Nonsense_Mutation	SNP	ENST00000529546.1	37	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	38	7.215779	0.98139	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	.	.	.	5.16	4.26	0.50523	.	0.045452	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-30.0015	13.1206	0.59325	0.077:0.0:0.923:0.0	.	.	.	.	X	325;325;175;227;227;175;219;137;137;175;225;274;175;219;290;244	.	ENSP00000347020:E175X	E	+	1	0	TXNRD1	103237477	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.695000	0.84257	2.425000	0.82216	0.638000	0.83543	GAA		0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	
TCP11L2	255394	broad.mit.edu	37	12	106715429	106715429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:106715429C>T	ENST00000299045.3	+	5	754	c.580C>T	c.(580-582)Cga>Tga	p.R194*	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000546625.1_Nonsense_Mutation_p.R194*|TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.R194*	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	194								p.R194*(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGCTCCCGTGCGAGATAATGA	0.488																																					p.R194X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C580T	12						.						175.0	158.0	163.0					12																	106715429		2203	4300	6503	105239559	SO:0001587	stop_gained	255394	exon5			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.580C>T	12.37:g.106715429C>T	ENSP00000299045:p.Arg194*	Somatic		Capture	Illumina HiSeq	Phase_I	105239559	NM_152772	B2RA65|G3V1Y9	Nonsense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	38	6.982361	0.97979	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	.	.	.	6.07	3.15	0.36227	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4167	15.9116	0.79477	0.5772:0.4228:0.0:0.0	.	.	.	.	X	194	.	ENSP00000299045:R194X	R	+	1	2	TCP11L2	105239559	0.802000	0.28943	0.944000	0.38274	0.978000	0.69477	1.532000	0.36029	0.377000	0.24735	-0.274000	0.10170	CGA		0.488	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772	
BTBD11	121551	broad.mit.edu	37	12	108051289	108051289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:108051289C>A	ENST00000280758.5	+	17	3637	c.3109C>A	c.(3109-3111)Ctt>Att	p.L1037I	BTBD11_ENST00000357167.4_Missense_Mutation_p.L574I|BTBD11_ENST00000494235.2_Missense_Mutation_p.L116I|BTBD11_ENST00000420571.2_Missense_Mutation_p.L918I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1037						integral component of membrane (GO:0016021)		p.L1037I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCACAGTTTCTTGGAGTCAC	0.453																																					p.L574I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1720A	12						.						77.0	73.0	74.0					12																	108051289		2203	4300	6503	106575419	SO:0001583	missense	121551	exon15			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3109C>A	12.37:g.108051289C>A	ENSP00000280758:p.Leu1037Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106575419	NM_001017523	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922498	0.52653	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.39229	1.31;1.43;1.09;1.21	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.69078	0.982;0.997	D;D	0.72625	0.952;0.978	T	0.60089	-0.7331	10	0.49607	T	0.09	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	574;1037	E9PHS4;A6QL63	.;BTBDB_HUMAN	I	1037;918;574;116	ENSP00000280758:L1037I;ENSP00000413889:L918I;ENSP00000349690:L574I;ENSP00000448322:L116I	ENSP00000280758:L1037I	L	+	1	0	BTBD11	106575419	1.000000	0.71417	0.838000	0.33150	0.064000	0.16182	5.676000	0.68131	2.760000	0.94817	0.655000	0.94253	CTT		0.453	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
WSCD2	9671	broad.mit.edu	37	12	108600076	108600076	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:108600076C>T	ENST00000332082.4	+	4	1211	c.393C>T	c.(391-393)atC>atT	p.I131I	WSCD2_ENST00000549903.1_Silent_p.I131I|WSCD2_ENST00000261400.3_Silent_p.I131I|WSCD2_ENST00000547525.1_Silent_p.I131I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	131	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.I131I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCAAGTACATCGGCTGCTACC	0.517																																					p.I131I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	12						.						81.0	80.0	80.0					12																	108600076		1936	4142	6078	107124206	SO:0001819	synonymous_variant	9671	exon3				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.393C>T	12.37:g.108600076C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107124206	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.517	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
WSCD2	9671	broad.mit.edu	37	12	108618620	108618620	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:108618620G>A	ENST00000332082.4	+	6	1605	c.787G>A	c.(787-789)Gac>Aac	p.D263N	WSCD2_ENST00000549903.1_Missense_Mutation_p.D263N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D263N|WSCD2_ENST00000547525.1_Missense_Mutation_p.D263N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	263	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.D263N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAATGCGTGGACTTCTGCAC	0.587																																					p.D263N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	12						.						68.0	66.0	67.0					12																	108618620		2000	4186	6186	107142750	SO:0001583	missense	9671	exon5				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.787G>A	12.37:g.108618620G>A	ENSP00000331933:p.Asp263Asn	Somatic		Capture	Illumina HiSeq	Phase_I	107142750	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281343	0.95489	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.39	5.39	0.77823	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.974;0.996	T	0.62450	-0.6852	10	0.27082	T	0.32	-66.0112	17.8977	0.88893	0.0:0.0:1.0:0.0	.	263;263	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	N	263;263;110;263;263	ENSP00000448047:D263N;ENSP00000261400:D263N;ENSP00000446744:D110N;ENSP00000331933:D263N;ENSP00000447272:D263N	ENSP00000261400:D263N	D	+	1	0	WSCD2	107142750	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.537000	0.98070	2.804000	0.96469	0.655000	0.94253	GAC		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
SELPLG	6404	broad.mit.edu	37	12	109017079	109017079	+	Silent	SNP	G	G	A	rs143398240	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:109017079G>A	ENST00000550948.1	-	2	1229	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	SELPLG_ENST00000388962.3_Silent_p.F325F|SELPLG_ENST00000228463.6_Silent_p.F351F			Q14242	SELPL_HUMAN	selectin P ligand	335					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.F325F(1)|p.F335F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CAGTGCACACGAAGAAGATAG	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		19588	0.0		0.0	False		,,,				2504	0.0				p.F325F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C975T	12						.	G	,	10,4396	16.8+/-37.8	0,10,2193	51.0	48.0	49.0		1053,1005	-8.2	0.3	12	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SELPLG	NM_001206609.1,NM_003006.4	,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,	351/429,335/413	109017079	10,12996	2203	4300	6503	107541208	SO:0001819	synonymous_variant	6404	exon3				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.1005C>T	12.37:g.109017079G>A		Somatic		Capture	Illumina HiSeq	Phase_I	107541208	NM_003006	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	CCDS31895.2																																																																																				0.592	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
ALKBH2	121642	broad.mit.edu	37	12	109530489	109530489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:109530489C>A	ENST00000429722.2	-	2	466	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	ALKBH2_ENST00000440112.2_Nonsense_Mutation_p.E35*|ALKBH2_ENST00000343075.3_Nonsense_Mutation_p.E35*	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	35					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.E35*(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CTTGTGCTTTCTTTGTCTCCT	0.607								Direct reversal of damage																													p.E35X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G103T	12						.						153.0	167.0	162.0					12																	109530489		2203	4300	6503	108014872	SO:0001587	stop_gained	121642	exon2			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.103G>T	12.37:g.109530489C>A	ENSP00000398181:p.Glu35*	Somatic		Capture	Illumina HiSeq	Phase_I	108014872	NM_001145374	A4PET2|Q5XLE3	Nonsense_Mutation	SNP	ENST00000429722.2	37	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404415	0.62288	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	.	.	.	5.39	3.58	0.41010	.	3.189030	0.00904	N	0.002384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.7703	8.2792	0.31889	0.0:0.8173:0.0:0.1827	.	.	.	.	X	35	.	ENSP00000343021:E35X	E	-	1	0	ALKBH2	108014872	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.610000	0.24253	0.652000	0.30806	0.563000	0.77884	GAA		0.607	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655	
ACACB	32	broad.mit.edu	37	12	109631529	109631529	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:109631529C>A	ENST00000338432.7	+	16	2595	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	ACACB_ENST00000377854.5_Missense_Mutation_p.L826I|ACACB_ENST00000377848.3_Missense_Mutation_p.L826I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	826					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L826I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TAAGTACATTCTCAAGGTAAA	0.493																																					p.L826I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2476A	12						.						82.0	81.0	81.0					12																	109631529		2203	4300	6503	108115912	SO:0001583	missense	32	exon15			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2476C>A	12.37:g.109631529C>A	ENSP00000341044:p.Leu826Ile	Somatic		Capture	Illumina HiSeq	Phase_I	108115912	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865227	0.51482	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.95885	-3.79;-3.79;-3.84	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	L	0.42744	1.35	0.80722	D	1	P	0.45078	0.85	P	0.46208	0.507	D	0.94701	0.7883	10	0.54805	T	0.06	.	18.3842	0.90461	0.0:1.0:0.0:0.0	.	826	O00763	ACACB_HUMAN	I	826;826;826;57	ENSP00000341044:L826I;ENSP00000367079:L826I;ENSP00000367085:L826I	ENSP00000341044:L826I	L	+	1	0	ACACB	108115912	0.997000	0.39634	0.987000	0.45799	0.413000	0.31143	3.618000	0.54188	2.584000	0.87258	0.558000	0.71614	CTC		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
TAS2R10	50839	broad.mit.edu	37	12	10978247	10978247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:10978247G>A	ENST00000240619.2	-	1	710	c.622C>T	c.(622-624)Caa>Taa	p.Q208*		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	208					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.Q208*(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACATTCGATTGCATCTGCCTG	0.348																																					p.Q208X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C622T	12						.						98.0	97.0	98.0					12																	10978247		2203	4300	6503	10869514	SO:0001587	stop_gained	50839	exon1			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.622C>T	12.37:g.10978247G>A	ENSP00000240619:p.Gln208*	Somatic		Capture	Illumina HiSeq	Phase_I	10869514	NM_023921	Q3MIM9|Q6NTD9	Nonsense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383482	0.82792	.	.	ENSG00000121318	ENST00000240619	.	.	.	4.82	3.93	0.45458	.	0.393704	0.22638	N	0.057486	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.3806	0.38311	0.1009:0.0:0.8991:0.0	.	.	.	.	X	208	.	ENSP00000240619:Q208X	Q	-	1	0	TAS2R10	10869514	0.001000	0.12720	0.072000	0.20136	0.224000	0.24922	-0.463000	0.06696	1.168000	0.42723	0.591000	0.81541	CAA		0.348	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
MYO1H	283446	broad.mit.edu	37	12	109843732	109843732	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:109843732C>A	ENST00000431443.2	+	7	807	c.807C>A	c.(805-807)ctC>ctA	p.L269L	MYO1H_ENST00000310903.5_Silent_p.L269L|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	269	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L269L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCTAGAATCTCTTTGGAATTA	0.478																																					p.L269L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807A	12						.						79.0	73.0	75.0					12																	109843732		1908	4117	6025	108328115	SO:0001819	synonymous_variant	283446	exon7				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.807C>A	12.37:g.109843732C>A		Somatic		Capture	Illumina HiSeq	Phase_I	108328115	NM_001101421	F5H3C6	Silent	SNP	ENST00000431443.2	37																																																																																					0.478	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
GIT2	9815	broad.mit.edu	37	12	110399090	110399090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:110399090C>T	ENST00000355312.3	-	11	979	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	GIT2_ENST00000360185.4_Missense_Mutation_p.R327Q|GIT2_ENST00000354574.4_Missense_Mutation_p.R329Q|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.R329Q|GIT2_ENST00000320063.9_Missense_Mutation_p.R327Q|GIT2_ENST00000356259.4_Missense_Mutation_p.R327Q|GIT2_ENST00000338373.5_Missense_Mutation_p.R327Q|GIT2_ENST00000553118.1_Missense_Mutation_p.R327Q|GIT2_ENST00000361006.5_Missense_Mutation_p.R327Q|GIT2_ENST00000551209.1_Missense_Mutation_p.R326Q|GIT2_ENST00000343646.5_Missense_Mutation_p.R327Q|GIT2_ENST00000547815.1_Missense_Mutation_p.R327Q	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	327					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R327Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGCCTGATTTCGTGTTGATGA	0.463																																					p.R327Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	12						.						118.0	88.0	98.0					12																	110399090		2203	4300	6503	108883473	SO:0001583	missense	9815	exon11			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.980G>A	12.37:g.110399090C>T	ENSP00000347464:p.Arg327Gln	Somatic		Capture	Illumina HiSeq	Phase_I	108883473	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	36	5.805775	0.96967	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	D;D;D;D;T;D;D;D;D;D;D;D	0.88509	-2.39;-1.83;-1.78;-2.05;-0.82;-1.88;-1.77;-2.31;-1.97;-1.79;-1.94;-1.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.94202	0.8139	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;1.0;1.0;0.996;0.992	D	0.93548	0.6884	10	0.52906	T	0.07	.	19.2123	0.93760	0.0:1.0:0.0:0.0	.	327;327;329;329;327;327;327	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	Q	327;327;329;327;327;327;329;327;327;326;265;327;327	ENSP00000347464:R327Q;ENSP00000353312:R327Q;ENSP00000346585:R329Q;ENSP00000340342:R327Q;ENSP00000340938:R327Q;ENSP00000348595:R327Q;ENSP00000391813:R329Q;ENSP00000354282:R327Q;ENSP00000447465:R327Q;ENSP00000448832:R326Q;ENSP00000450348:R327Q;ENSP00000323833:R327Q	ENSP00000323833:R327Q	R	-	2	0	GIT2	108883473	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.861000	0.98227	0.650000	0.86243	CGA		0.463	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
ANKRD13A	88455	broad.mit.edu	37	12	110449861	110449861	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:110449861T>C	ENST00000261739.4	+	2	314	c.148T>C	c.(148-150)Tcc>Ccc	p.S50P	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	50						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.S50P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TCTTGCTGTTTCCTTGGGACA	0.408																																					p.S50P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T148C	12						.						138.0	123.0	128.0					12																	110449861		2203	4300	6503	108934244	SO:0001583	missense	88455	exon2			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.148T>C	12.37:g.110449861T>C	ENSP00000261739:p.Ser50Pro	Somatic		Capture	Illumina HiSeq	Phase_I	108934244	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	T	31	5.075516	0.94000	.	.	ENSG00000076513	ENST00000261739	T	0.66460	-0.21	6.17	6.17	0.99709	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77070	-0.2724	10	0.36615	T	0.2	-1.1081	16.0034	0.80327	0.0:0.0:0.0:1.0	.	50;50;50	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	P	50	ENSP00000261739:S50P	ENSP00000261739:S50P	S	+	1	0	ANKRD13A	108934244	1.000000	0.71417	0.920000	0.36463	0.987000	0.75469	7.671000	0.83941	2.371000	0.80710	0.533000	0.62120	TCC		0.408	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
ATP2A2	488	broad.mit.edu	37	12	110765727	110765727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:110765727C>T	ENST00000539276.2	+	8	1109	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	ATP2A2_ENST00000395494.2_Nonsense_Mutation_p.R307*|ATP2A2_ENST00000308664.6_Nonsense_Mutation_p.R334*			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	334					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.R334*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCCATTGTTCGAAGCCTCCC	0.512																																					p.R334X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1000T	12						.						73.0	69.0	71.0					12																	110765727		2203	4300	6503	109250110	SO:0001587	stop_gained	488	exon8				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1000C>T	12.37:g.110765727C>T	ENSP00000440045:p.Arg334*	Somatic		Capture	Illumina HiSeq	Phase_I	109250110	NM_170665	A6NDN7|B4DF05|P16614|Q86VJ2	Nonsense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.884926|9.884926	0.99288|0.99288	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	.|.	.|.	.|.	5.48|5.48	4.47|4.47	0.54385|0.54385	.|.	0.051146|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66356	.|0.2781	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69544	.|-0.5117	.|3	0.02654|.	T|.	1|.	.|.	15.7935|15.7935	0.78388|0.78388	0.1798:0.8202:0.0:0.0|0.1798:0.8202:0.0:0.0	.|.	.|.	.|.	.|.	X|L	334;307;334|224	.|.	ENSP00000311186:R334X|.	R|S	+|+	1|2	2|0	ATP2A2|ATP2A2	109250110|109250110	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.576000|2.576000	0.46033|0.46033	2.741000|2.741000	0.93983|0.93983	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.512	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	
CCDC63	160762	broad.mit.edu	37	12	111321933	111321933	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:111321933A>G	ENST00000308208.5	+	8	1195	c.953A>G	c.(952-954)aAc>aGc	p.N318S	CCDC63_ENST00000552694.1_Missense_Mutation_p.N239S|CCDC63_ENST00000545036.1_Missense_Mutation_p.N278S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	318								p.N318S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAGAGTGGGAACCTAAACCAG	0.507																																					p.N318S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A953G	12						.						126.0	125.0	126.0					12																	111321933		2203	4300	6503	109806316	SO:0001583	missense	160762	exon8			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.953A>G	12.37:g.111321933A>G	ENSP00000312399:p.Asn318Ser	Somatic		Capture	Illumina HiSeq	Phase_I	109806316	NM_152591	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529275	0.44969	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.34072	1.38;1.38;1.38	5.68	3.14	0.36123	.	0.352192	0.34088	N	0.004263	T	0.32941	0.0846	M	0.70275	2.135	0.21355	N	0.999718	P	0.38078	0.617	B	0.30855	0.121	T	0.29518	-1.0009	10	0.56958	D	0.05	.	10.4299	0.44400	0.688:0.312:0.0:0.0	.	318	Q8NA47	CCD63_HUMAN	S	278;318;239	ENSP00000445881:N278S;ENSP00000312399:N318S;ENSP00000450217:N239S	ENSP00000312399:N318S	N	+	2	0	CCDC63	109806316	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	3.039000	0.49791	0.954000	0.37851	0.533000	0.62120	AAC		0.507	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	
HECTD4	283450	broad.mit.edu	37	12	112642296	112642296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:112642296G>A	ENST00000430131.2	-	52	8142	c.6997C>T	c.(6997-6999)Cga>Tga	p.R2333*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.R2609*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2583*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2333					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R2583*(1)									AAACCTTTTCGAACTTTATCA	0.393																																					p.R2583X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7747T	12						.						100.0	102.0	102.0					12																	112642296		1925	4109	6034	111126679	SO:0001587	stop_gained	283450	exon52			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6997C>T	12.37:g.112642296G>A	ENSP00000404379:p.Arg2333*	Somatic		Capture	Illumina HiSeq	Phase_I	111126679	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.053339	0.97241	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.02	6.02	0.97574	.	0.188661	0.34906	U	0.003584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	2583;2333;2609	.	ENSP00000366783:R2583X	R	-	1	2	C12orf51	111126679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.865000	0.98341	0.655000	0.94253	CGA		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
PTPN11	5781	broad.mit.edu	37	12	112888191	112888191	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:112888191G>T	ENST00000351677.2	+	3	405	c.207G>T	c.(205-207)gaG>gaT	p.E69D	PTPN11_ENST00000392597.1_Missense_Mutation_p.E69D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		E -> K (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|E -> Q (in NS1). {ECO:0000269|PubMed:12634870}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E69D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGGAGGGGAGAAATTTGCCA	0.423			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																												p.E69D			Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	PTPN11,central_nervous_system,brain,Substitution - Missense,+2 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G207T	12						.						153.0	141.0	145.0					12																	112888191		2203	4300	6503	111372574	SO:0001583	missense	5781	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.207G>T	12.37:g.112888191G>T	ENSP00000340944:p.Glu69Asp	Somatic		Capture	Illumina HiSeq	Phase_I	111372574	NM_002834	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282291	0.59867	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.88741	-2.42;-2.42	5.9	2.63	0.31362	.	0.000000	0.85682	D	0.000000	D	0.86752	0.6008	L	0.58354	1.805	0.53688	D	0.999973	B;B	0.26672	0.073;0.156	B;B	0.33620	0.073;0.167	D	0.83678	0.0170	10	0.49607	T	0.09	.	11.0344	0.47791	0.2801:0.0:0.7199:0.0	.	69;69	Q06124-2;Q06124-3	.;.	D	69	ENSP00000376376:E69D;ENSP00000340944:E69D	ENSP00000340944:E69D	E	+	3	2	PTPN11	111372574	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.546000	0.53656	0.817000	0.34445	0.650000	0.86243	GAG		0.423	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
RPH3A	22895	broad.mit.edu	37	12	113285605	113285605	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:113285605C>A	ENST00000389385.4	+	5	685	c.188C>A	c.(187-189)gCt>gAt	p.A63D	RPH3A_ENST00000415485.3_Missense_Mutation_p.A63D|RPH3A_ENST00000551052.1_Missense_Mutation_p.A59D|RPH3A_ENST00000543106.2_Missense_Mutation_p.A63D|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000420983.2_Missense_Mutation_p.A63D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	63	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.A59D(2)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGGGTGATTGCTCGAGCTGAG	0.577																																					p.A59D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C176A	12						.						92.0	76.0	82.0					12																	113285605		2203	4300	6503	111769988	SO:0001583	missense	22895	exon4			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.188C>A	12.37:g.113285605C>A	ENSP00000374036:p.Ala63Asp	Somatic		Capture	Illumina HiSeq	Phase_I	111769988	NM_014954	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427400	0.62733	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.07	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000010	D	0.84302	0.5442	M	0.70275	2.135	0.80722	D	1	D;D;D	0.57257	0.979;0.979;0.974	P;P;P	0.55345	0.774;0.774;0.665	D	0.84657	0.0704	9	.	.	.	.	17.5808	0.87968	0.0:1.0:0.0:0.0	.	63;63;59	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	D	63;63;63;63;63;63;63;63;63;63;63;63;59;63;63;63	ENSP00000446570:A63D;ENSP00000449705:A63D;ENSP00000440384:A63D;ENSP00000446780:A63D;ENSP00000447306:A63D;ENSP00000446556:A63D;ENSP00000450382:A63D;ENSP00000449613:A63D;ENSP00000447505:A63D;ENSP00000449650:A63D;ENSP00000374036:A63D;ENSP00000447083:A63D;ENSP00000448297:A59D;ENSP00000405357:A63D;ENSP00000450216:A63D;ENSP00000408889:A63D	.	A	+	2	0	RPH3A	111769988	1.000000	0.71417	0.183000	0.23137	0.969000	0.65631	5.157000	0.64911	2.492000	0.84095	0.655000	0.94253	GCT		0.577	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
RBM19	9904	broad.mit.edu	37	12	114385231	114385231	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:114385231T>G	ENST00000545145.2	-	11	1393	c.1315A>C	c.(1315-1317)Acc>Ccc	p.T439P	RBM19_ENST00000392561.3_Missense_Mutation_p.T439P|RBM19_ENST00000261741.5_Missense_Mutation_p.T439P	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	439	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T439P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGTTTCTTGGTCAGGCTGTCG	0.587																																					p.T439P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1315C	12						.						128.0	110.0	116.0					12																	114385231		2203	4300	6503	112869614	SO:0001583	missense	9904	exon11			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1315A>C	12.37:g.114385231T>G	ENSP00000442053:p.Thr439Pro	Somatic		Capture	Illumina HiSeq	Phase_I	112869614	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591099	0.86851	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.22539	1.95;1.95;1.95	5.15	5.15	0.70609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.101182	0.64402	D	0.000002	T	0.50292	0.1607	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57888	-0.7733	10	0.87932	D	0	-16.9483	14.9599	0.71147	0.0:0.0:0.0:1.0	.	439	Q9Y4C8	RBM19_HUMAN	P	439	ENSP00000442053:T439P;ENSP00000376344:T439P;ENSP00000261741:T439P	ENSP00000261741:T439P	T	-	1	0	RBM19	112869614	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.582000	0.82546	1.953000	0.56701	0.533000	0.62120	ACC		0.587	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
RBM19	9904	broad.mit.edu	37	12	114395841	114395841	+	Missense_Mutation	SNP	C	C	T	rs144857109		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:114395841C>T	ENST00000545145.2	-	6	664	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	RBM19_ENST00000392561.3_Missense_Mutation_p.E196K|RBM19_ENST00000261741.5_Missense_Mutation_p.E196K	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	196					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E196K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCCTTTGGTTCGAGGCTTGCC	0.527																																					p.E196K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586A	12						.	C	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	99.0	94.0	96.0		586,586,586	-3.1	0.0	12	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	56,56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	196/961,196/961,196/961	114395841	2,13004	2203	4300	6503	112880224	SO:0001583	missense	9904	exon6			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.586G>A	12.37:g.114395841C>T	ENSP00000442053:p.Glu196Lys	Somatic		Capture	Illumina HiSeq	Phase_I	112880224	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446763	0.25987	4.54E-4	0.0	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05855	3.38;3.38;3.38	5.04	-3.11	0.05299	.	1.022470	0.07760	N	0.949907	T	0.03263	0.0095	N	0.16743	0.435	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48559	-0.9025	10	0.10636	T	0.68	-1.3661	6.1531	0.20322	0.0:0.2645:0.3611:0.3744	.	196	Q9Y4C8	RBM19_HUMAN	K	196	ENSP00000442053:E196K;ENSP00000376344:E196K;ENSP00000261741:E196K	ENSP00000261741:E196K	E	-	1	0	RBM19	112880224	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.019000	0.03622	-0.902000	0.03886	-0.136000	0.14681	GAA		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
TBX5	6910	broad.mit.edu	37	12	114841627	114841627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:114841627G>A	ENST00000310346.4	-	2	743	c.77C>T	c.(76-78)tCg>tTg	p.S26L	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Missense_Mutation_p.S26L|TBX5_ENST00000405440.2_Missense_Mutation_p.S26L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	26				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S26L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCGGGTTTCGAATCGCAGGG	0.697																																					p.S26L	NSCLC(152;1358 1980 4050 23898 40356)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C77T	12						.						34.0	43.0	40.0					12																	114841627		2203	4300	6503	113326010	SO:0001583	missense	6910	exon2			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.77C>T	12.37:g.114841627G>A	ENSP00000309913:p.Ser26Leu	Somatic		Capture	Illumina HiSeq	Phase_I	113326010	NM_000192	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	7.412	0.635018	0.14322	.	.	ENSG00000089225	ENST00000310346;ENST00000405440;ENST00000526441	D;D;D	0.87334	-2.24;-2.24;-2.21	5.41	4.52	0.55395	.	0.662570	0.15302	N	0.269588	T	0.73497	0.3594	N	0.14661	0.345	0.09310	N	1	B;B	0.28933	0.228;0.063	B;B	0.19148	0.024;0.011	T	0.58031	-0.7708	10	0.15499	T	0.54	.	10.9045	0.47071	0.0715:0.1988:0.7298:0.0	.	26;26	Q99593-2;Q99593	.;TBX5_HUMAN	L	26	ENSP00000309913:S26L;ENSP00000384152:S26L;ENSP00000433292:S26L	ENSP00000309913:S26L	S	-	2	0	TBX5	113326010	0.163000	0.22920	0.089000	0.20774	0.867000	0.49689	2.942000	0.49018	1.277000	0.44412	0.655000	0.94253	TCG		0.697	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
MED13L	23389	broad.mit.edu	37	12	116406869	116406869	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:116406869T>C	ENST00000281928.3	-	28	6307	c.6101A>G	c.(6100-6102)gAt>gGt	p.D2034G		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2034						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.D2034G(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATTGTCCATATCATCTGGGAA	0.413																																					p.D2034G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6101G	12						.						77.0	79.0	78.0					12																	116406869		2203	4300	6503	114891252	SO:0001583	missense	23389	exon28			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6101A>G	12.37:g.116406869T>C	ENSP00000281928:p.Asp2034Gly	Somatic		Capture	Illumina HiSeq	Phase_I	114891252	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276423	0.80580	.	.	ENSG00000123066	ENST00000281928	T	0.75367	-0.93	6.06	6.06	0.98353	.	0.047607	0.85682	D	0.000000	T	0.80954	0.4723	L	0.51422	1.61	0.80722	D	1	D	0.64830	0.994	D	0.64506	0.926	T	0.76342	-0.2994	10	0.16420	T	0.52	.	16.6154	0.84909	0.0:0.0:0.0:1.0	.	2034	Q71F56	MD13L_HUMAN	G	2034	ENSP00000281928:D2034G	ENSP00000281928:D2034G	D	-	2	0	MED13L	114891252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	2.315000	0.78130	0.533000	0.62120	GAT		0.413	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
WSB2	55884	broad.mit.edu	37	12	118481134	118481134	+	Silent	SNP	C	C	T	rs199804263	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:118481134C>T	ENST00000315436.3	-	3	372	c.231G>A	c.(229-231)acG>acA	p.T77T	WSB2_ENST00000544233.1_Intron|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Silent_p.T94T|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Silent_p.T79T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	77					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.T77T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCGCCCTTTCGTCTCATTTT	0.522													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19423	0.001		0.0	False		,,,				2504	0.0				p.T77T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	12						.						126.0	134.0	131.0					12																	118481134		2203	4300	6503	116965517	SO:0001819	synonymous_variant	55884	exon3			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.231G>A	12.37:g.118481134C>T		Somatic		Capture	Illumina HiSeq	Phase_I	116965517	NM_018639	B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	CCDS9186.1																																																																																				0.522	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	
TAOK3	51347	broad.mit.edu	37	12	118637061	118637061	+	Splice_Site	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:118637061T>C	ENST00000392533.3	-	13	1479	c.989A>G	c.(988-990)gAc>gGc	p.D330G	TAOK3_ENST00000419821.2_Splice_Site_p.D330G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	330					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.D330G(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTCACTGTCCTGTAAAAA	0.468																																					p.D330G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A989G	12						.						103.0	75.0	85.0					12																	118637061		2203	4300	6503	117121444	SO:0001630	splice_region_variant	51347	exon13			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.988-1A>G	12.37:g.118637061T>C		Somatic		Capture	Illumina HiSeq	Phase_I	117121444	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208396	0.39003	.	.	ENSG00000135090	ENST00000419821;ENST00000392533	D;D	0.83591	-1.74;-1.74	5.02	5.02	0.67125	Protein kinase-like domain (1);	0.229124	0.44285	D	0.000467	T	0.79464	0.4450	L	0.50333	1.59	0.80722	D	1	B	0.11235	0.004	B	0.19946	0.027	T	0.74864	-0.3519	10	0.33141	T	0.24	.	14.9019	0.70687	0.0:0.0:0.0:1.0	.	330	Q9H2K8	TAOK3_HUMAN	G	330	ENSP00000416374:D330G;ENSP00000376317:D330G	ENSP00000376317:D330G	D	-	2	0	TAOK3	117121444	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.453000	0.80700	2.110000	0.64415	0.482000	0.46254	GAC		0.468	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	Missense_Mutation
SRRM4	84530	broad.mit.edu	37	12	119583359	119583359	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:119583359C>T	ENST00000267260.4	+	9	1333	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	315	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.G315G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGTGGGGGCTTGAGCAAGA	0.612																																					p.G315G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	12						.						30.0	37.0	35.0					12																	119583359		1960	4155	6115	118067742	SO:0001819	synonymous_variant	84530	exon9			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.945C>T	12.37:g.119583359C>T		Somatic		Capture	Illumina HiSeq	Phase_I	118067742	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	CCDS44994.1																																																																																				0.612	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
CCDC64	92558	broad.mit.edu	37	12	120502572	120502572	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:120502572G>T	ENST00000397558.2	+	4	798	c.798G>T	c.(796-798)gaG>gaT	p.E266D	CCDC64_ENST00000446727.2_Missense_Mutation_p.E10D	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	266					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.E266D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCTGGAGCATCGTCTCA	0.567																																					p.E266D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G798T	12						.						119.0	122.0	121.0					12																	120502572		1973	4151	6124	118986955	SO:0001583	missense	92558	exon4			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.798G>T	12.37:g.120502572G>T	ENSP00000380690:p.Glu266Asp	Somatic		Capture	Illumina HiSeq	Phase_I	118986955	NM_207311	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411776	0.62399	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.05925	3.37;3.37	5.52	2.69	0.31865	.	0.053387	0.64402	D	0.000001	T	0.19525	0.0469	M	0.69248	2.105	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.75484	0.986;0.98	T	0.00279	-1.1853	10	0.66056	D	0.02	-13.3115	10.011	0.41986	0.2746:0.0:0.7254:0.0	.	10;266	B4DNE7;Q6ZP65	.;BICR1_HUMAN	D	247;266;10	ENSP00000380690:E266D;ENSP00000399658:E10D	ENSP00000349605:E247D	E	+	3	2	CCDC64	118986955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.349000	0.59385	0.703000	0.31848	-0.136000	0.14681	GAG		0.567	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	
MSI1	4440	broad.mit.edu	37	12	120802528	120802528	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:120802528C>T	ENST00000257552.2	-	5	386	c.298G>A	c.(298-300)Gca>Aca	p.A100T		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	100	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.A100T(2)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGGCTGTGCTCGCCGAGGG	0.512																																					p.A100T												MSI1,central_nervous_system,brain,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G298A	12						.						184.0	182.0	182.0					12																	120802528		2203	4300	6503	119286911	SO:0001583	missense	4440	exon5			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.298G>A	12.37:g.120802528C>T	ENSP00000257552:p.Ala100Thr	Somatic		Capture	Illumina HiSeq	Phase_I	119286911	NM_002442	Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777714	0.90195	.	.	ENSG00000135097	ENST00000257552	D	0.85702	-2.02	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	L	0.58354	1.805	0.80722	D	1	B	0.33826	0.427	B	0.30716	0.119	T	0.79642	-0.1718	10	0.18710	T	0.47	.	18.4997	0.90877	0.0:1.0:0.0:0.0	.	100	O43347	MSI1H_HUMAN	T	100	ENSP00000257552:A100T	ENSP00000257552:A100T	A	-	1	0	MSI1	119286911	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.398000	0.79919	2.462000	0.83206	0.455000	0.32223	GCA		0.512	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442	
MLEC	9761	broad.mit.edu	37	12	121134226	121134226	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:121134226C>T	ENST00000228506.3	+	5	1185	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA|MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000412616.2_Silent_p.T174T	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	253					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.R253W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CAATAAGAACCGGGTGCAGTC	0.502																																					p.R253W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C757T	12						.						140.0	138.0	139.0					12																	121134226		2203	4300	6503	119618609	SO:0001583	missense	9761	exon5			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.757C>T	12.37:g.121134226C>T	ENSP00000228506:p.Arg253Trp	Somatic		Capture	Illumina HiSeq	Phase_I	119618609	NM_014730		Missense_Mutation	SNP	ENST00000228506.3	37	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656626	0.67586	.	.	ENSG00000110917	ENST00000228506;ENST00000535656	.	.	.	4.99	4.07	0.47477	.	0.180865	0.48286	D	0.000198	T	0.78426	0.4281	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.81848	-0.0744	9	0.87932	D	0	.	14.5779	0.68262	0.1518:0.8482:0.0:0.0	.	253	Q14165	MLEC_HUMAN	W	253;130	.	ENSP00000228506:R253W	R	+	1	2	MLEC	119618609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.727000	0.54984	1.182000	0.42928	0.563000	0.77884	CGG		0.502	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730	
C12orf43	64897	broad.mit.edu	37	12	121442025	121442025	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:121442025C>T	ENST00000288757.3	-	6	742	c.720G>A	c.(718-720)aaG>aaA	p.K240K	C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000366211.2_Silent_p.K199K|RP11-216P16.2_ENST00000606238.1_RNA|C12orf43_ENST00000537817.1_Silent_p.K241K|C12orf43_ENST00000539736.1_Silent_p.K230K|C12orf43_ENST00000445832.3_Silent_p.K210K	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	240	Lys-rich.							p.K240K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTCTTTGCCTTTTTCTTCT	0.572																																					p.K240K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	12						.						258.0	252.0	254.0					12																	121442025		2203	4300	6503	119926408	SO:0001819	synonymous_variant	64897	exon6			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.720G>A	12.37:g.121442025C>T		Somatic		Capture	Illumina HiSeq	Phase_I	119926408	NM_022895	Q53HF0|Q9H9Z7	Silent	SNP	ENST00000288757.3	37	CCDS9210.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784747	0.49997	.	.	ENSG00000157895	ENST00000546272	.	.	.	5.48	-1.36	0.09085	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.36089	D	0.843306	.	.	.	.	.	.	T	0.41360	-0.9513	4	.	.	.	-31.1475	1.0439	0.01565	0.1525:0.3225:0.1485:0.3765	.	.	.	.	K	194	.	.	R	-	2	0	C12orf43	119926408	0.112000	0.22096	0.530000	0.27963	0.251000	0.25915	-0.080000	0.11339	0.254000	0.21573	0.655000	0.94253	AGG		0.572	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895	
WDR66	144406	broad.mit.edu	37	12	122361780	122361780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:122361780G>T	ENST00000288912.4	+	3	1485	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.E211*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	211							calcium ion binding (GO:0005509)	p.E211*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAGGGACAAGAAAGGAGAGT	0.522																																					p.E211X	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G631T	12						.						108.0	107.0	107.0					12																	122361780		1906	4127	6033	120846163	SO:0001587	stop_gained	144406	exon3			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.631G>T	12.37:g.122361780G>T	ENSP00000288912:p.Glu211*	Somatic		Capture	Illumina HiSeq	Phase_I	120846163	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629149	0.67015	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	3.8	-3.13	0.05266	.	3.159180	0.01928	U	0.041052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	4.541	0.12058	0.4054:0.0:0.4451:0.1495	.	.	.	.	X	211	.	ENSP00000288912:E211X	E	+	1	0	WDR66	120846163	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.040000	0.12104	-0.873000	0.04032	-0.384000	0.06662	GAA		0.522	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
WDR66	144406	broad.mit.edu	37	12	122392187	122392187	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:122392187T>C	ENST00000288912.4	+	10	2336	c.1482T>C	c.(1480-1482)tgT>tgC	p.C494C	WDR66_ENST00000397454.2_Silent_p.C494C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	494							calcium ion binding (GO:0005509)	p.C494C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCAAGCCTTGTAAATTGGTTC	0.393																																					p.C494C	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1482C	12						.						91.0	89.0	90.0					12																	122392187		1876	4106	5982	120876570	SO:0001819	synonymous_variant	144406	exon10			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1482T>C	12.37:g.122392187T>C		Somatic		Capture	Illumina HiSeq	Phase_I	120876570	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																				0.393	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
WDR66	144406	broad.mit.edu	37	12	122437640	122437640	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:122437640G>A	ENST00000288912.4	+	20	3879	c.3025G>A	c.(3025-3027)Gaa>Aaa	p.E1009K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1009							calcium ion binding (GO:0005509)	p.E1009K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TATATTTAACGAAATCAAATT	0.363																																					p.E1009K	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3025A	12						.						44.0	41.0	42.0					12																	122437640		1835	4084	5919	120922023	SO:0001583	missense	144406	exon20			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3025G>A	12.37:g.122437640G>A	ENSP00000288912:p.Glu1009Lys	Somatic		Capture	Illumina HiSeq	Phase_I	120922023	NM_144668	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889232	0.91889	.	.	ENSG00000158023	ENST00000288912	T	0.80304	-1.36	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89818	0.6825	M	0.89095	3.005	0.80722	D	1	D	0.65815	0.995	P	0.58172	0.834	D	0.91959	0.5577	10	0.87932	D	0	.	17.4226	0.87518	0.0:0.0:1.0:0.0	.	1009	Q8TBY9	WDR66_HUMAN	K	1009	ENSP00000288912:E1009K	ENSP00000288912:E1009K	E	+	1	0	WDR66	120922023	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.637000	0.74304	2.409000	0.81822	0.655000	0.94253	GAA		0.363	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
MLXIP	22877	broad.mit.edu	37	12	122619868	122619868	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:122619868C>A	ENST00000319080.7	+	10	1962	c.1830C>A	c.(1828-1830)gtC>gtA	p.V610V	MLXIP_ENST00000538698.1_Silent_p.V217V|MLXIP_ENST00000535996.1_3'UTR					MLX interacting protein									p.V610V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCAACGTGGTCATTGCGCCTG	0.617																																					p.V610V	Esophageal Squamous(105;787 1493 16200 18566 52466)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1830A	12						.						74.0	80.0	78.0					12																	122619868		2141	4232	6373	121185821	SO:0001819	synonymous_variant	22877	exon10			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1830C>A	12.37:g.122619868C>A		Somatic		Capture	Illumina HiSeq	Phase_I	121185821	NM_014938		Silent	SNP	ENST00000319080.7	37																																																																																					0.617	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938	
BCL2L14	79370	broad.mit.edu	37	12	12247481	12247481	+	Intron	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:12247481A>C	ENST00000308721.5	+	5	884				BCL2L14_ENST00000586576.1_Intron|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000266434.4_Missense_Mutation_p.S239R|BCL2L14_ENST00000589718.1_Intron|BCL2L14_ENST00000396367.1_Intron	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)						apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.S239R(1)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGTTGACACCAGCATCCAGGG	0.478																																					p.S239R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A715C	12						.						111.0	91.0	98.0					12																	12247481		2203	4300	6503	12138748	SO:0001627	intron_variant	79370	exon5			AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.679-117A>C	12.37:g.12247481A>C		Somatic		Capture	Illumina HiSeq	Phase_I	12138748	NM_030766	A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895573	0.33442	.	.	ENSG00000121380	ENST00000266434	.	.	.	3.57	1.22	0.21188	.	.	.	.	.	T	0.29524	0.0736	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.26677	-1.0096	7	0.72032	D	0.01	.	6.1879	0.20508	0.7638:0.0:0.2362:0.0	.	239	Q9BZR8-2	.	R	239	.	ENSP00000266434:S239R	S	+	1	0	BCL2L14	12138748	0.000000	0.05858	0.046000	0.18839	0.259000	0.26198	-0.013000	0.12678	0.259000	0.21709	0.533000	0.62120	AGC		0.478	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766	
LRP6	4040	broad.mit.edu	37	12	12312027	12312027	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:12312027C>A	ENST00000261349.4	-	12	2603	c.2527G>T	c.(2527-2529)Gat>Tat	p.D843Y	LRP6_ENST00000543091.1_Missense_Mutation_p.D843Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	843	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D843Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TAGATATAATCTTGGTACTGA	0.483																																					p.D843Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2527T	12						.						115.0	94.0	101.0					12																	12312027		2203	4300	6503	12203294	SO:0001583	missense	4040	exon12			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2527G>T	12.37:g.12312027C>A	ENSP00000261349:p.Asp843Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	12203294	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539564	0.85917	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92099	-2.97;-2.97	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000012	D	0.97558	0.9200	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.963	D	0.98122	1.0426	10	0.87932	D	0	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	843;843	F5H7J9;O75581	.;LRP6_HUMAN	Y	843	ENSP00000261349:D843Y;ENSP00000442472:D843Y	ENSP00000261349:D843Y	D	-	1	0	LRP6	12203294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	GAT		0.483	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
CLIP1	6249	broad.mit.edu	37	12	122763590	122763590	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:122763590C>A	ENST00000540338.1	-	21	3791	c.3750G>T	c.(3748-3750)gaG>gaT	p.E1250D	CLIP1_ENST00000361654.4_Missense_Mutation_p.E1128D|CLIP1_ENST00000537178.1_Missense_Mutation_p.E1204D|CLIP1_ENST00000545889.1_Missense_Mutation_p.E825D|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000358808.2_Missense_Mutation_p.E1239D|CLIP1_ENST00000302528.7_Missense_Mutation_p.E1239D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1250					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1239D(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCTCAGTTTCTCCAGCTCGG	0.463																																					p.E1204D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3612T	12						.						168.0	157.0	161.0					12																	122763590		2203	4300	6503	121329543	SO:0001583	missense	6249	exon20				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3750G>T	12.37:g.122763590C>A	ENSP00000439093:p.Glu1250Asp	Somatic		Capture	Illumina HiSeq	Phase_I	121329543	NM_198240	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597534	0.66332	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.55413	2.59;0.52;0.52;0.53;0.53	6.17	-3.12	0.05282	.	0.230499	0.44483	D	0.000453	T	0.55955	0.1953	L	0.41710	1.295	0.37447	D	0.914642	D;D;B	0.71674	0.998;0.998;0.167	D;D;B	0.68943	0.961;0.923;0.115	T	0.57952	-0.7722	10	0.36615	T	0.2	-22.6574	12.9744	0.58529	0.0:0.2349:0.0:0.7651	.	1204;1239;1250	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	D	825;1239;1239;969;281;1204;1250	ENSP00000438743:E825D;ENSP00000303585:E1239D;ENSP00000351665:E1239D;ENSP00000445531:E1204D;ENSP00000439093:E1250D	ENSP00000303585:E1239D	E	-	3	2	CLIP1	121329543	0.930000	0.31532	0.981000	0.43875	0.986000	0.74619	-0.023000	0.12456	-0.384000	0.07845	-0.345000	0.07892	GAG		0.463	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
DNAH10	196385	broad.mit.edu	37	12	124303702	124303702	+	Missense_Mutation	SNP	G	G	A	rs371005101		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:124303702G>A	ENST00000409039.3	+	22	3576	c.3551G>A	c.(3550-3552)cGa>cAa	p.R1184Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1184	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1184Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTTACTCGAGGCGAAATA	0.378																																					p.R1184Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3551A	12						.						136.0	127.0	130.0					12																	124303702		1886	4119	6005	122869655	SO:0001583	missense	196385	exon22			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3551G>A	12.37:g.124303702G>A	ENSP00000386770:p.Arg1184Gln	Somatic		Capture	Illumina HiSeq	Phase_I	122869655	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	1.795	-0.478576	0.04414	.	.	ENSG00000197653	ENST00000409039	T	0.21932	1.98	5.18	5.18	0.71444	.	.	.	.	.	T	0.12050	0.0293	N	0.13003	0.285	0.09310	N	1	B	0.21071	0.051	B	0.14578	0.011	T	0.21690	-1.0238	9	0.14656	T	0.56	.	10.7964	0.46464	0.0955:0.0:0.9045:0.0	.	1184	Q8IVF4	DYH10_HUMAN	Q	1184	ENSP00000386770:R1184Q	ENSP00000386770:R1184Q	R	+	2	0	DNAH10	122869655	0.345000	0.24835	0.716000	0.30569	0.202000	0.24057	2.845000	0.48254	2.398000	0.81561	0.455000	0.32223	CGA		0.378	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124317763	124317763	+	Missense_Mutation	SNP	G	G	A	rs373563221		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:124317763G>A	ENST00000409039.3	+	26	4319	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1432	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1432K(1)|p.E24K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTGTTGACGAAATTATTCA	0.433																																					p.E1432K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4294A	12						.	G	LYS/GLU	0,3868		0,0,1934	72.0	69.0	70.0		4294	5.8	0.1	12		70	1,8303		0,1,4151	no	missense	DNAH10	NM_207437.3	56	0,1,6085	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	1432/4472	124317763	1,12171	1934	4152	6086	122883716	SO:0001583	missense	196385	exon26			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4294G>A	12.37:g.124317763G>A	ENSP00000386770:p.Glu1432Lys	Somatic		Capture	Illumina HiSeq	Phase_I	122883716	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327240	0.60743	0.0	1.2E-4	ENSG00000197653	ENST00000409039	T	0.64618	-0.11	5.83	5.83	0.93111	Dynein heavy chain, domain-2 (1);	0.304390	0.30302	U	0.009923	D	0.85124	0.5625	H	0.95712	3.71	0.51482	D	0.99992	D	0.64830	0.994	P	0.62382	0.901	D	0.88730	0.3236	10	0.72032	D	0.01	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	1432	Q8IVF4	DYH10_HUMAN	K	1432	ENSP00000386770:E1432K	ENSP00000386770:E1432K	E	+	1	0	DNAH10	122883716	1.000000	0.71417	0.085000	0.20634	0.008000	0.06430	8.010000	0.88615	2.756000	0.94617	0.655000	0.94253	GAA		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
ZNF664	144348	broad.mit.edu	37	12	124497347	124497347	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:124497347G>T	ENST00000539644.1	+	6	2486	c.656G>T	c.(655-657)aGa>aTa	p.R219I	ZNF664_ENST00000538932.2_Missense_Mutation_p.R219I|ZNF664_ENST00000337815.4_Missense_Mutation_p.R219I|ZNF664_ENST00000392404.3_Missense_Mutation_p.R219I|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	219					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.R219K(1)|p.R219I(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ATCCACCAGAGAGTCCACACA	0.522																																					p.R219I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G656T	12						.						100.0	103.0	102.0					12																	124497347		2203	4300	6503	123063300	SO:0001583	missense	144348	exon6				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.656G>T	12.37:g.124497347G>T	ENSP00000441405:p.Arg219Ile	Somatic		Capture	Illumina HiSeq	Phase_I	123063300	NM_152437	B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316166	0.60524	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000789	T	0.42040	0.1185	M	0.70903	2.155	0.46028	D	0.998829	D	0.67145	0.996	P	0.58520	0.84	T	0.28073	-1.0055	10	0.59425	D	0.04	-33.8347	10.4735	0.44650	0.0:0.1971:0.8029:0.0	.	219	Q8N3J9	ZN664_HUMAN	I	219;219;219;219;157	ENSP00000441405:R219I;ENSP00000376205:R219I;ENSP00000440645:R219I;ENSP00000337320:R219I	ENSP00000337320:R219I	R	+	2	0	ZNF664	123063300	1.000000	0.71417	0.982000	0.44146	0.918000	0.54935	3.558000	0.53749	2.651000	0.90000	0.655000	0.94253	AGA		0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437	
UBC	7316	broad.mit.edu	37	12	125398309	125398309	+	Silent	SNP	G	G	T	rs141011497		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:125398309G>T	ENST00000538617.1	-	3	325	c.9C>A	c.(7-9)atC>atA	p.I3I	UBC_ENST00000536769.1_Silent_p.I3I|UBC_ENST00000339647.5_Silent_p.I3I|UBC_ENST00000546120.1_Silent_p.I3I|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'UTR			P0CG48	UBC_HUMAN	ubiquitin C	383	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.I3I(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTCACGAAGATCTGCATTG	0.418																																					p.I3I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9A	12						.						119.0	117.0	118.0					12																	125398309		2203	4300	6503	123964262	SO:0001819	synonymous_variant	7316	exon2				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.9C>A	12.37:g.125398309G>T		Somatic		Capture	Illumina HiSeq	Phase_I	123964262	NM_021009	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																					0.418	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009	
AACS	65985	broad.mit.edu	37	12	125558480	125558480	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:125558480G>T	ENST00000316519.6	+	2	398	c.192G>T	c.(190-192)gaG>gaT	p.E64D	AACS_ENST00000261686.6_Missense_Mutation_p.E64D	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	64					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.E64D(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCTGGGCAGAGTTCTGGAAAT	0.393																																					p.E64D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G192T	12						.						174.0	160.0	165.0					12																	125558480		2203	4300	6503	124124433	SO:0001583	missense	65985	exon2			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.192G>T	12.37:g.125558480G>T	ENSP00000324842:p.Glu64Asp	Somatic		Capture	Illumina HiSeq	Phase_I	124124433	NM_023928	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	9.698	1.153652	0.21371	.	.	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	T;T;T	0.11063	2.81;2.81;2.81	4.56	0.572	0.17357	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.111526	0.64402	D	0.000015	T	0.06826	0.0174	N	0.26092	0.79	0.40508	D	0.980713	B;B	0.22480	0.012;0.07	B;B	0.23419	0.02;0.046	T	0.36986	-0.9725	10	0.21014	T	0.42	.	9.1472	0.36939	0.4171:0.0:0.5829:0.0	.	64;64	Q86V21-2;Q86V21	.;AACS_HUMAN	D	64	ENSP00000324842:E64D;ENSP00000442691:E64D;ENSP00000261686:E64D	ENSP00000261686:E64D	E	+	3	2	AACS	124124433	1.000000	0.71417	0.980000	0.43619	0.964000	0.63967	0.965000	0.29319	0.135000	0.18707	0.491000	0.48974	GAG		0.393	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
DUSP16	80824	broad.mit.edu	37	12	12630251	12630251	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:12630251C>T	ENST00000228862.2	-	7	2145	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	505					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R505Q(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCTCCCACTTCGATGCAGTGG	0.592																																					p.R505Q	Ovarian(158;443 1896 15437 36069 46477)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1514A	12						.						61.0	61.0	61.0					12																	12630251		2203	4300	6503	12521518	SO:0001583	missense	80824	exon7			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1514G>A	12.37:g.12630251C>T	ENSP00000228862:p.Arg505Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12521518	NM_030640	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772742	0.31411	.	.	ENSG00000111266	ENST00000228862	T	0.02158	4.42	5.21	4.32	0.51571	.	0.454840	0.19698	N	0.108116	T	0.03095	0.0091	L	0.46157	1.445	0.80722	D	1	P;P	0.50617	0.921;0.937	B;B	0.40101	0.252;0.319	T	0.60934	-0.7164	10	0.36615	T	0.2	.	13.9899	0.64359	0.0:0.9273:0.0:0.0727	.	505;505	Q9BY84;Q96N49	DUS16_HUMAN;.	Q	505	ENSP00000228862:R505Q	ENSP00000228862:R505Q	R	-	2	0	DUSP16	12521518	1.000000	0.71417	0.071000	0.20095	0.275000	0.26752	5.298000	0.65710	1.423000	0.47198	0.655000	0.94253	CGA		0.592	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640	
TMEM132B	114795	broad.mit.edu	37	12	126138438	126138438	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:126138438A>C	ENST00000299308.3	+	9	2427	c.2419A>C	c.(2419-2421)Aat>Cat	p.N807H	TMEM132B_ENST00000535886.1_Missense_Mutation_p.N319H	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	807						integral component of membrane (GO:0016021)		p.N807H(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGAGGGCATAAATCGGGAATA	0.488																																					p.N807H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2419C	12						.						77.0	77.0	77.0					12																	126138438		2049	4204	6253	124704391	SO:0001583	missense	114795	exon9			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2419A>C	12.37:g.126138438A>C	ENSP00000299308:p.Asn807His	Somatic		Capture	Illumina HiSeq	Phase_I	124704391	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	3.390	-0.124422	0.06795	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13901	2.55;2.55	5.54	0.533	0.17121	.	1.050160	0.07424	N	0.894617	T	0.12561	0.0305	L	0.34521	1.04	0.09310	N	1	B	0.29590	0.25	B	0.37047	0.24	T	0.43798	-0.9369	10	0.51188	T	0.08	.	4.7406	0.13010	0.3987:0.1802:0.421:0.0	.	807	Q14DG7	T132B_HUMAN	H	807;319	ENSP00000299308:N807H;ENSP00000440436:N319H	ENSP00000299308:N807H	N	+	1	0	TMEM132B	124704391	0.966000	0.33281	0.000000	0.03702	0.012000	0.07955	2.857000	0.48349	0.063000	0.16370	0.533000	0.62120	AAT		0.488	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
TMEM132D	121256	broad.mit.edu	37	12	129559274	129559274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:129559274C>T	ENST00000422113.2	-	9	2772	c.2446G>A	c.(2446-2448)Gtt>Att	p.V816I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V354I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	816					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.V816I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCATGTGAACCCCTGCCCCT	0.488																																					p.V816I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2446A	12						.						170.0	138.0	149.0					12																	129559274		2203	4300	6503	128125227	SO:0001583	missense	121256	exon9			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2446G>A	12.37:g.129559274C>T	ENSP00000408581:p.Val816Ile	Somatic		Capture	Illumina HiSeq	Phase_I	128125227	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	2.849	-0.238695	0.05944	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13657	2.57;2.57	4.2	3.28	0.37604	.	1.655420	0.04221	N	0.333552	T	0.16385	0.0394	L	0.43152	1.355	0.09310	N	1	B;B	0.22003	0.034;0.063	B;B	0.20577	0.024;0.03	T	0.39683	-0.9602	9	.	.	.	0.1135	12.6263	0.56632	0.0:0.6666:0.3333:0.0	.	816;354	Q14C87;Q14C87-2	T132D_HUMAN;.	I	354;816	ENSP00000374092:V354I;ENSP00000408581:V816I	.	V	-	1	0	TMEM132D	128125227	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	1.053000	0.30442	0.825000	0.34637	0.462000	0.41574	GTT		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
DDX47	51202	broad.mit.edu	37	12	12975628	12975628	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:12975628C>T	ENST00000358007.3	+	6	617	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DDX47_ENST00000352940.4_Missense_Mutation_p.R199W	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	199	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R199W(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCCTCGAGATCGGAAAACATT	0.378																																					p.R199W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C595T	12						.						157.0	145.0	149.0					12																	12975628		2203	4300	6503	12866895	SO:0001583	missense	51202	exon6			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.595C>T	12.37:g.12975628C>T	ENSP00000350698:p.Arg199Trp	Somatic		Capture	Illumina HiSeq	Phase_I	12866895	NM_201224	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915281	0.73098	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.49720	0.77;3.41;0.77	5.84	4.95	0.65309	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78583	-0.2148	10	0.87932	D	0	-9.1189	9.9749	0.41777	0.168:0.7591:0.0:0.0729	.	199;199;199	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	W	199;199;136	ENSP00000319578:R199W;ENSP00000350698:R199W;ENSP00000444000:R136W	ENSP00000319578:R199W	R	+	1	2	DDX47	12866895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.180000	0.50895	1.468000	0.48064	0.650000	0.86243	CGG		0.378	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355	
TMEM132D	121256	broad.mit.edu	37	12	129563243	129563243	+	Missense_Mutation	SNP	G	G	A	rs368658439		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:129563243G>A	ENST00000422113.2	-	8	2277	c.1951C>T	c.(1951-1953)Ctc>Ttc	p.L651F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.L189F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	651					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.L651F(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTTCAGCGAGGATGGTGTCT	0.572																																					p.L651F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1951T	12						.	G	PHE/LEU	0,4406		0,0,2203	146.0	123.0	131.0		1951	-0.4	1.0	12		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	651/1100	129563243	1,13005	2203	4300	6503	128129196	SO:0001583	missense	121256	exon8			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1951C>T	12.37:g.129563243G>A	ENSP00000408581:p.Leu651Phe	Somatic		Capture	Illumina HiSeq	Phase_I	128129196	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663624	0.67700	0.0	1.16E-4	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.29142	1.58;1.58	5.06	-0.374	0.12512	.	0.000000	0.64402	D	0.000017	T	0.56949	0.2020	M	0.89840	3.065	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60657	-0.7220	9	.	.	.	-25.4808	10.7835	0.46393	0.5084:0.0:0.4916:0.0	.	651;189	Q14C87;Q14C87-2	T132D_HUMAN;.	F	189;651	ENSP00000374092:L189F;ENSP00000408581:L651F	.	L	-	1	0	TMEM132D	128129196	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	0.560000	0.23500	-0.119000	0.11830	0.563000	0.77884	CTC		0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
FZD10	11211	broad.mit.edu	37	12	130648520	130648520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:130648520G>A	ENST00000229030.4	+	1	1517	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R312Q			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	345					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E345K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGGGGCCACGAGGCCATCGA	0.652																																					p.E345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	12						.						51.0	47.0	48.0					12																	130648520		2203	4300	6503	129214473	SO:0001583	missense	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1033G>A	12.37:g.130648520G>A	ENSP00000229030:p.Glu345Lys	Somatic		Capture	Illumina HiSeq	Phase_I	129214473	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.095512|3.095512	0.56075|0.56075	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.84800|.	-1.9|.	5.1|5.1	5.1|5.1	0.69264|0.69264	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.88062|0.88062	0.6336|0.6336	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	D|D	0.92043|0.92043	0.5642|0.5642	10|6	0.87932|0.87932	D|D	0|0	.|.	18.5184|18.5184	0.90943|0.90943	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	345|.	Q9ULW2|.	FZD10_HUMAN|.	K|Q	345|312	ENSP00000229030:E345K|.	ENSP00000229030:E345K|ENSP00000438460:R312Q	E|R	+|+	1|2	0|0	FZD10|FZD10	129214473|129214473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.643000|9.643000	0.98464|0.98464	2.374000|2.374000	0.81015|0.81015	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.652	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PIWIL1	9271	broad.mit.edu	37	12	130830411	130830411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:130830411G>T	ENST00000245255.3	+	4	576	c.304G>T	c.(304-306)Gaa>Taa	p.E102*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	102					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.E102*(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCATGTTAAAGAATCAAAAAC	0.383																																					p.E102X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G304T	12						.						103.0	96.0	98.0					12																	130830411		2203	4300	6503	129396364	SO:0001587	stop_gained	9271	exon4			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.304G>T	12.37:g.130830411G>T	ENSP00000245255:p.Glu102*	Somatic		Capture	Illumina HiSeq	Phase_I	129396364	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	37	6.355711	0.97502	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	.	.	.	5.98	5.98	0.97165	.	0.045355	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-26.7503	19.4463	0.94849	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000245255:E102X	E	+	1	0	PIWIL1	129396364	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.545000	0.82128	2.835000	0.97688	0.650000	0.86243	GAA		0.383	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
GPR133	283383	broad.mit.edu	37	12	131569120	131569120	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:131569120C>T	ENST00000261654.5	+	15	2142	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V	GPR133_ENST00000543617.1_Missense_Mutation_p.A47V|GPR133_ENST00000535015.1_Missense_Mutation_p.A560V|GPR133_ENST00000376682.4_Missense_Mutation_p.A214V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	528	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A528V(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACGGCTGTGCGCTCACGAGA	0.612																																					p.A528V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1583T	12						.						145.0	106.0	119.0					12																	131569120		2203	4300	6503	130135073	SO:0001583	missense	283383	exon15			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1583C>T	12.37:g.131569120C>T	ENSP00000261654:p.Ala528Val	Somatic		Capture	Illumina HiSeq	Phase_I	130135073	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.242|5.242	0.230106|0.230106	0.09969|0.09969	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617|ENST00000335486	T;T;T;T|.	0.68624|.	-0.34;-0.34;-0.34;-0.34|.	4.99|4.99	-5.53|-5.53	0.02552|0.02552	GPS domain (3);|.	0.449907|.	0.21054|.	N|.	0.080944|.	T|T	0.10637|0.10637	0.0260|0.0260	N|N	0.02225|0.02225	-0.63|-0.63	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.09377|.	0.001;0.001;0.004|.	T|T	0.32107|0.32107	-0.9919|-0.9919	10|5	0.21540|.	T|.	0.41|.	.|.	6.2175|6.2175	0.20663|0.20663	0.2434:0.1601:0.0:0.5965|0.2434:0.1601:0.0:0.5965	.|.	560;47;528|.	B7ZLF7;Q6QNK2-3;Q6QNK2|.	.;.;GP133_HUMAN|.	V|C	528;560;214;47|50	ENSP00000261654:A528V;ENSP00000444425:A560V;ENSP00000365872:A214V;ENSP00000438021:A47V|.	ENSP00000261654:A528V|.	A|R	+|+	2|1	0|0	GPR133|GPR133	130135073|130135073	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.025000|-0.025000	0.12413|0.12413	-0.673000|-0.673000	0.05259|0.05259	-0.966000|-0.966000	0.02617|0.02617	GCG|CGC		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
EP400	57634	broad.mit.edu	37	12	132516615	132516615	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:132516615G>T	ENST00000333577.4	+	31	6089	c.5980G>T	c.(5980-5982)Gac>Tac	p.D1994Y	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389561.2_Missense_Mutation_p.D1958Y|EP400_ENST00000389562.2_Missense_Mutation_p.D1957Y|EP400_ENST00000330386.6_Missense_Mutation_p.D1877Y|EP400_ENST00000332482.4_Missense_Mutation_p.D1921Y			Q96L91	EP400_HUMAN	E1A binding protein p400	1994	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D1957Y(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTATGACAATGACCTGAATCC	0.512																																					p.D1957Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5869T	12						.						153.0	150.0	151.0					12																	132516615		2203	4300	6503	131082568	SO:0001583	missense	57634	exon30			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5980G>T	12.37:g.132516615G>T	ENSP00000333602:p.Asp1994Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	131082568	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	14.05	2.421163	0.42918	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.76839	-0.95;-0.95;-0.95;-0.95;-1.05	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	M	0.91510	3.215	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92221	0.5784	10	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1958;1877;1957	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	Y	1994;1958;1957;1921;1877;1958	ENSP00000333602:D1994Y;ENSP00000374212:D1958Y;ENSP00000374213:D1957Y;ENSP00000331737:D1921Y;ENSP00000330620:D1877Y	ENSP00000330620:D1877Y	D	+	1	0	EP400	131082568	1.000000	0.71417	0.975000	0.42487	0.442000	0.32017	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	GAC		0.512	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
EP400	57634	broad.mit.edu	37	12	132547165	132547165	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:132547165G>A	ENST00000333577.4	+	48	8470	c.8361G>A	c.(8359-8361)acG>acA	p.T2787T	EP400_ENST00000332482.4_Silent_p.T2714T|EP400_ENST00000330386.6_Silent_p.T2670T|EP400_ENST00000389562.2_Silent_p.T2750T|EP400_ENST00000389561.2_Silent_p.T2751T			Q96L91	EP400_HUMAN	E1A binding protein p400	2787	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T2750T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agACGACGACGACCTCTCAGG	0.612																																					p.T2750T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8250A	12						.						84.0	66.0	72.0					12																	132547165		2203	4300	6503	131113118	SO:0001819	synonymous_variant	57634	exon47			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8361G>A	12.37:g.132547165G>A		Somatic		Capture	Illumina HiSeq	Phase_I	131113118	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
POLE	5426	broad.mit.edu	37	12	133242025	133242025	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:133242025C>A	ENST00000320574.5	-	21	2374	c.2331G>T	c.(2329-2331)aaG>aaT	p.K777N	POLE_ENST00000535270.1_Missense_Mutation_p.K750N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	777			K -> N (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.K777N(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCGAGAGCTTCTTTTTCCACA	0.512								DNA polymerases (catalytic subunits)																													p.K777N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2331T	12						.						53.0	49.0	50.0					12																	133242025		2203	4300	6503	131752098	SO:0001583	missense	5426	exon21				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2331G>T	12.37:g.133242025C>A	ENSP00000322570:p.Lys777Asn	Somatic		Capture	Illumina HiSeq	Phase_I	131752098	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460369	0.43736	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.65	2.85	0.33270	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.41415	1.275	0.48696	D	0.999698	P;P	0.41524	0.753;0.645	B;P	0.46419	0.288;0.516	T	0.01549	-1.1327	10	0.42905	T	0.14	.	8.7234	0.34454	0.0:0.7128:0.0:0.2872	.	750;777	F5H1D6;Q07864	.;DPOE1_HUMAN	N	777;788;750;557;712	ENSP00000322570:K777N;ENSP00000406383:K788N;ENSP00000445753:K750N;ENSP00000442519:K557N	ENSP00000322570:K777N	K	-	3	2	POLE	131752098	1.000000	0.71417	0.999000	0.59377	0.240000	0.25518	1.140000	0.31516	0.760000	0.33108	0.567000	0.79289	AAG		0.512	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POLE	5426	broad.mit.edu	37	12	133252327	133252327	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:133252327A>G	ENST00000320574.5	-	11	1143	c.1100T>C	c.(1099-1101)tTt>tCt	p.F367S	POLE_ENST00000535270.1_Missense_Mutation_p.F340S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	367			F -> S (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.F367S(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCACCAGTCAAAAAAGTCCCC	0.532								DNA polymerases (catalytic subunits)																													p.F367S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1100C	12						.						123.0	119.0	120.0					12																	133252327		2203	4300	6503	131762400	SO:0001583	missense	5426	exon11				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1100T>C	12.37:g.133252327A>G	ENSP00000322570:p.Phe367Ser	Somatic		Capture	Illumina HiSeq	Phase_I	131762400	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	32	5.106447	0.94292	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.74	5.74	0.90152	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79293	-0.1863	10	0.87932	D	0	.	16.0499	0.80749	1.0:0.0:0.0:0.0	.	340;367	F5H1D6;Q07864	.;DPOE1_HUMAN	S	367;378;340;147;302	ENSP00000322570:F367S;ENSP00000406383:F378S;ENSP00000445753:F340S;ENSP00000442519:F147S	ENSP00000322570:F367S	F	-	2	0	POLE	131762400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.007000	0.93597	2.193000	0.70182	0.533000	0.62120	TTT		0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ZNF84	7637	broad.mit.edu	37	12	133634989	133634989	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:133634989G>T	ENST00000327668.7	+	5	2268	c.1688G>T	c.(1687-1689)aGa>aTa	p.R563I	ZNF84_ENST00000539354.1_Missense_Mutation_p.R563I|ZNF84_ENST00000535439.1_Intron|ZNF84_ENST00000392319.2_Missense_Mutation_p.R563I|ZNF84_ENST00000543758.1_Missense_Mutation_p.R562I			P51523	ZNF84_HUMAN	zinc finger protein 84	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R563I(1)		breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)		ACTCATCAGAGAACTCATACT	0.443																																					p.R563I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688T	12						.																																			132145062	SO:0001583	missense	7637	exon5			M27878	CCDS31940.1	12q24.33	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13159	protein-coding gene	gene with protein product			"""zinc finger protein 84 (HPF2)"""				Standard	XM_005266184		Approved	HPF2	uc009zyz.3	P51523		ENST00000327668.7:c.1688G>T	12.37:g.133634989G>T	ENSP00000331465:p.Arg563Ile	Somatic		Capture	Illumina HiSeq	Phase_I	132145062	NM_001127372	B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18	Missense_Mutation	SNP	ENST00000327668.7	37	CCDS31940.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548966	0.65311	.	.	ENSG00000198040	ENST00000392319;ENST00000543758;ENST00000539354;ENST00000327668	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.8	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42743	0.1216	L	0.51853	1.615	0.47094	D	0.999317	D	0.89917	1.0	D	0.75484	0.986	T	0.41305	-0.9516	9	0.66056	D	0.02	.	12.7582	0.57347	0.0:0.0:1.0:0.0	.	563	P51523	ZNF84_HUMAN	I	563;562;563;563	ENSP00000376133:R563I;ENSP00000437949:R562I;ENSP00000445549:R563I;ENSP00000331465:R563I	ENSP00000331465:R563I	R	+	2	0	ZNF84	132145062	0.000000	0.05858	0.988000	0.46212	0.975000	0.68041	0.073000	0.14640	1.567000	0.49668	0.305000	0.20034	AGA		0.443	ZNF84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397158.1	NM_003428	
ZNF10	7556	broad.mit.edu	37	12	133733162	133733162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:133733162C>T	ENST00000248211.6	+	5	1552	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*	ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.R444*|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.R310*	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	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)	p.R444*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATGTTTTAGTCGAAGCTCTCA	0.403																																					p.R444X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1330T	12						.						102.0	109.0	107.0					12																	133733162		2203	4300	6503	132243235	SO:0001587	stop_gained	7556	exon5			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1330C>T	12.37:g.133733162C>T	ENSP00000248211:p.Arg444*	Somatic		Capture	Illumina HiSeq	Phase_I	132243235	NM_015394	B2RBS1|Q8TC91	Nonsense_Mutation	SNP	ENST00000248211.6	37	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	39	7.358763	0.98235	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	.	.	.	3.87	-1.52	0.08637	.	1.190030	0.06398	N	0.718351	.	.	.	.	.	.	0.23356	N	0.997845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3912	0.11341	0.2682:0.4751:0.0:0.2567	.	.	.	.	X	444;444;310	.	.	R	+	1	2	ZNF10	132243235	0.000000	0.05858	0.990000	0.47175	0.996000	0.88848	-2.998000	0.00654	-0.183000	0.10585	0.655000	0.94253	CGA		0.403	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
SLC6A13	6540	broad.mit.edu	37	12	346366	346366	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:346366G>T	ENST00000343164.4	-	6	706	c.654C>A	c.(652-654)atC>atA	p.I218I	SLC6A13_ENST00000445055.2_Silent_p.I126I	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	218					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.I218I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGAAGTAGCAGATGACCCAGG	0.652																																					p.I126I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378A	12						.						85.0	81.0	82.0					12																	346366		2203	4300	6503	216627	SO:0001819	synonymous_variant	6540	exon4			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.654C>A	12.37:g.346366G>T		Somatic		Capture	Illumina HiSeq	Phase_I	216627	NM_001190997	B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	CCDS8502.1																																																																																				0.652	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	
KDM5A	5927	broad.mit.edu	37	12	416931	416931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:416931C>A	ENST00000399788.2	-	23	3981	c.3619G>T	c.(3619-3621)Gaa>Taa	p.E1207*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.E1207*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1207					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1207*(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATTTTACTTCTTTAGCTTGC	0.463			T	NUP98	AML																																p.E1207X			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3619T	12						.						100.0	98.0	98.0					12																	416931		1898	4103	6001	287192	SO:0001587	stop_gained	5927	exon23				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3619G>T	12.37:g.416931C>A	ENSP00000382688:p.Glu1207*	Somatic		Capture	Illumina HiSeq	Phase_I	287192	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	46	12.922426	0.99706	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	.	.	.	5.66	5.66	0.87406	.	0.226072	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.483	20.0973	0.97856	0.0:1.0:0.0:0.0	.	.	.	.	X	1207	.	ENSP00000372265:E1207X	E	-	1	0	KDM5A	287192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.830000	0.97506	0.585000	0.79938	GAA		0.463	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
KDM5A	5927	broad.mit.edu	37	12	441062	441062	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:441062A>T	ENST00000399788.2	-	13	2058	c.1696T>A	c.(1696-1698)Ttt>Att	p.F566I	KDM5A_ENST00000382815.4_Missense_Mutation_p.F566I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	566	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F566I(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCACGAGGAAATGTCACAACA	0.423			T	NUP98	AML																																p.F566I			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1696A	12						.						71.0	77.0	75.0					12																	441062		2145	4276	6421	311323	SO:0001583	missense	5927	exon13				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1696T>A	12.37:g.441062A>T	ENSP00000382688:p.Phe566Ile	Somatic		Capture	Illumina HiSeq	Phase_I	311323	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	A	32	5.133350	0.94517	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.71341	-0.56;-0.56;-0.56	5.63	5.63	0.86233	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89539	0.6744	H	0.97077	3.935	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	D;D;D;D	0.85130	0.991;0.997;0.997;0.994	D	0.93001	0.6423	10	0.87932	D	0	-19.3033	15.8252	0.78698	1.0:0.0:0.0:0.0	.	185;566;566;566	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	I	185;525;566;566;185	ENSP00000382688:F566I;ENSP00000372265:F566I;ENSP00000440622:F185I	ENSP00000261253:F185I	F	-	1	0	KDM5A	311323	1.000000	0.71417	0.915000	0.36163	0.843000	0.47879	9.297000	0.96120	2.151000	0.67156	0.528000	0.53228	TTT		0.423	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
WNK1	65125	broad.mit.edu	37	12	994655	994655	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:994655C>A	ENST00000315939.6	+	19	5328	c.4685C>A	c.(4684-4686)tCt>tAt	p.S1562Y	WNK1_ENST00000340908.4_Missense_Mutation_p.S1155Y|WNK1_ENST00000535572.1_Missense_Mutation_p.S1315Y|WNK1_ENST00000530271.2_Missense_Mutation_p.S2060Y|WNK1_ENST00000537687.1_Missense_Mutation_p.S1822Y	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1562					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1562Y(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTTATATTTCTCAGCCTGGT	0.473																																					p.S1822Y	Colon(19;451 567 6672 12618 28860)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5465A	12						.						312.0	291.0	298.0					12																	994655		2203	4300	6503	864916	SO:0001583	missense	65125	exon19			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4685C>A	12.37:g.994655C>A	ENSP00000313059:p.Ser1562Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	864916	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051051	0.08243	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.0	3.04	0.35103	.	0.319538	0.26532	N	0.023860	T	0.48259	0.1490	L	0.51422	1.61	0.28209	N	0.927017	P;P;P	0.52692	0.955;0.755;0.641	P;B;B	0.48141	0.568;0.444;0.259	T	0.47289	-0.9129	10	0.62326	D	0.03	-7.0504	5.6239	0.17473	0.1301:0.5573:0.2377:0.0749	.	1315;1315;1562	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Y	1315;1562;1822;735;2060;1155	ENSP00000441972:S1315Y;ENSP00000313059:S1562Y;ENSP00000444465:S1822Y;ENSP00000433548:S2060Y;ENSP00000341292:S1155Y	ENSP00000252477:S735Y	S	+	2	0	WNK1	864916	0.871000	0.30034	0.977000	0.42913	0.021000	0.10359	1.413000	0.34725	1.457000	0.47850	-0.152000	0.13540	TCT		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
CACNA2D4	93589	broad.mit.edu	37	12	1983825	1983825	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:1983825A>C	ENST00000382722.5	-	18	2185	c.1823T>G	c.(1822-1824)aTc>aGc	p.I608S	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.I544S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.I544S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.I583S|CACNA2D4_ENST00000539048.2_5'Flank|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.I608S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	608					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I608S(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTCCCTATTGATCATGGCTGT	0.483																																					p.I608S	Colon(2;101 179 21030 23310 28141)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1823G	12						.						181.0	157.0	165.0					12																	1983825		1968	4186	6154	1854086	SO:0001583	missense	93589	exon18			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1823T>G	12.37:g.1983825A>C	ENSP00000372169:p.Ile608Ser	Somatic		Capture	Illumina HiSeq	Phase_I	1854086	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713898	0.89112	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.10477	2.87	5.35	5.35	0.76521	.	0.050127	0.85682	D	0.000000	T	0.29288	0.0729	M	0.74881	2.28	0.80722	D	1	D	0.63046	0.992	P	0.58970	0.849	T	0.02893	-1.1097	10	0.87932	D	0	.	14.3232	0.66502	1.0:0.0:0.0:0.0	.	608	Q7Z3S7	CA2D4_HUMAN	S	544;608;608	ENSP00000372169:I608S	ENSP00000280663:I608S	I	-	2	0	CACNA2D4	1854086	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.654000	0.91092	2.027000	0.59764	0.454000	0.30748	ATC		0.483	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
CACNA1C	775	broad.mit.edu	37	12	2717812	2717812	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:2717812C>T	ENST00000347598.4	+	28	3552	c.3552C>T	c.(3550-3552)ttC>ttT	p.F1184F	CACNA1C_ENST00000399655.1_Silent_p.F1164F|CACNA1C_ENST00000399638.1_Silent_p.F1164F|CACNA1C_ENST00000399649.1_Silent_p.F1164F|CACNA1C_ENST00000344100.3_Silent_p.F1164F|CACNA1C_ENST00000399637.1_Silent_p.F1164F|CACNA1C_ENST00000399595.1_Silent_p.F1164F|CACNA1C_ENST00000399644.1_Silent_p.F1164F|CACNA1C_ENST00000335762.5_Silent_p.F1189F|CACNA1C_ENST00000399591.1_Silent_p.F1164F|CACNA1C_ENST00000399629.1_Silent_p.F1164F|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000480911.1_Silent_p.F1164F|CACNA1C_ENST00000399601.1_Silent_p.F1164F|CACNA1C_ENST00000402845.3_Silent_p.F1164F|CACNA1C_ENST00000399641.1_Silent_p.F1164F|CACNA1C_ENST00000399617.1_Silent_p.F1164F|CACNA1C_ENST00000399597.1_Silent_p.F1164F|CACNA1C_ENST00000399621.1_Silent_p.F1164F|CACNA1C_ENST00000406454.3_Silent_p.F1164F|CACNA1C_ENST00000399603.1_Silent_p.F1164F|CACNA1C_ENST00000399606.1_Silent_p.F1184F|CACNA1C_ENST00000399634.1_Silent_p.F1164F|CACNA1C_ENST00000327702.7_Silent_p.F1164F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1184	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F1214F(1)|p.F699F(1)|p.F1164F(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	tcgtgggcttcgtcatcgtca	0.522																																					p.F1164F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C3492T	12						.						124.0	111.0	115.0					12																	2717812		2203	4300	6503	2588073	SO:0001819	synonymous_variant	775	exon27			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3552C>T	12.37:g.2717812C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2588073	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.522	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
FOXM1	2305	broad.mit.edu	37	12	2981354	2981354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:2981354G>A	ENST00000359843.3	-	3	630	c.562C>T	c.(562-564)Cga>Tga	p.R188*	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Nonsense_Mutation_p.R188*|FOXM1_ENST00000342628.2_Nonsense_Mutation_p.R188*	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	188					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R188*(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTCATCTTTCGAAGCCACTGG	0.498																																					p.R188X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C562T	12						.						183.0	160.0	168.0					12																	2981354		2203	4300	6503	2851615	SO:0001587	stop_gained	2305	exon3			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.562C>T	12.37:g.2981354G>A	ENSP00000352901:p.Arg188*	Somatic		Capture	Illumina HiSeq	Phase_I	2851615	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Nonsense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824801	0.71143	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	.	.	.	5.7	3.83	0.44106	.	0.160788	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.2014	0.73139	0.0:0.7204:0.2796:0.0	.	.	.	.	X	188	.	ENSP00000342307:R188X	R	-	1	2	FOXM1	2851615	0.560000	0.26570	0.930000	0.37139	0.029000	0.11900	1.754000	0.38369	0.714000	0.32081	-0.165000	0.13383	CGA		0.498	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
PRMT8	56341	broad.mit.edu	37	12	3662819	3662819	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:3662819C>T	ENST00000382622.3	+	4	810	c.420C>T	c.(418-420)atC>atT	p.I140I	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.I131I	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	140	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.I140I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTTTCCAGATCGAATGCTCCA	0.483																																					p.I140I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C420T	12						.						118.0	106.0	110.0					12																	3662819		2203	4300	6503	3533080	SO:0001819	synonymous_variant	56341	exon4			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.420C>T	12.37:g.3662819C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3533080	NM_019854	B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	CCDS8521.2																																																																																				0.483	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
AKAP3	10566	broad.mit.edu	37	12	4736312	4736312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:4736312C>A	ENST00000545990.2	-	5	2280	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Nonsense_Mutation_p.E586*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	586					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.E586*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCTTCTTTTCTGCTTGTTCT	0.483																																					p.E586X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1756T	12						.						76.0	74.0	75.0					12																	4736312		2203	4300	6503	4606573	SO:0001587	stop_gained	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1756G>T	12.37:g.4736312C>A	ENSP00000440994:p.Glu586*	Somatic		Capture	Illumina HiSeq	Phase_I	4606573	NM_006422	O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	43	10.022174	0.99319	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	5.71	5.71	0.89125	.	0.369702	0.26525	N	0.023896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.7767	0.85552	0.0:1.0:0.0:0.0	.	.	.	.	X	586	.	ENSP00000228850:E586X	E	-	1	0	AKAP3	4606573	0.995000	0.38212	0.841000	0.33234	0.962000	0.63368	4.002000	0.57053	2.710000	0.92621	0.655000	0.94253	GAA		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
KCNA5	3741	broad.mit.edu	37	12	5153809	5153809	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:5153809G>A	ENST00000252321.3	+	1	725	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	166					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.D166N(1)|p.D166Y(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GTACTTCTTCGACCGCAACCG	0.667																																					p.D166N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G496A	12						.						38.0	41.0	40.0					12																	5153809		2203	4300	6503	5024070	SO:0001583	missense	3741	exon1			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.496G>A	12.37:g.5153809G>A	ENSP00000252321:p.Asp166Asn	Somatic		Capture	Illumina HiSeq	Phase_I	5024070	NM_002234	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254454	0.80135	.	.	ENSG00000130037	ENST00000252321	D	0.85484	-1.99	4.7	3.8	0.43715	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.92967	0.7762	M	0.90198	3.095	0.58432	D	0.999996	D	0.76494	0.999	D	0.69824	0.966	D	0.94165	0.7418	10	0.87932	D	0	.	13.9798	0.64297	0.0:0.1527:0.8473:0.0	.	166	P22460	KCNA5_HUMAN	N	166	ENSP00000252321:D166N	ENSP00000252321:D166N	D	+	1	0	KCNA5	5024070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.580000	0.98207	1.182000	0.42928	0.511000	0.50034	GAC		0.667	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234	
IFFO1	25900	broad.mit.edu	37	12	6664448	6664448	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:6664448G>T	ENST00000396840.2	-	1	789	c.748C>A	c.(748-750)Cgg>Agg	p.R250R	IFFO1_ENST00000356896.4_Silent_p.R250R|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000336604.4_Silent_p.R250R			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	250						intermediate filament (GO:0005882)		p.R250R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCCGCTCCCGCTTCACTTTG	0.627																																					p.R250R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C748A	12						.						128.0	135.0	132.0					12																	6664448		2202	4298	6500	6534709	SO:0001819	synonymous_variant	25900	exon1			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.748C>A	12.37:g.6664448G>T		Somatic		Capture	Illumina HiSeq	Phase_I	6534709	NM_001193457	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37																																																																																					0.627	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730	
CHD4	1108	broad.mit.edu	37	12	6700692	6700692	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:6700692C>T	ENST00000357008.2	-	22	3443	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	CHD4_ENST00000544040.1_Missense_Mutation_p.E1087K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1091K|CHD4_ENST00000309577.6_Missense_Mutation_p.E1094K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1094	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E1094K(1)		central_nervous_system(2)	2						TCGATGCGTTCGTATTTATAA	0.438																																					p.E1094K	Colon(32;586 792 4568 16848 45314)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3280A	12						.						213.0	184.0	194.0					12																	6700692		2203	4300	6503	6570953	SO:0001583	missense	1108	exon22			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3280G>A	12.37:g.6700692C>T	ENSP00000349508:p.Glu1094Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6570953	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163577	0.78226	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.994;0.999;0.97	D	0.99399	1.0927	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1094;1094;1087	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1091;1087;1094;1094;1068	ENSP00000440392:E1091K;ENSP00000440542:E1087K;ENSP00000312419:E1094K;ENSP00000349508:E1094K	ENSP00000312419:E1094K	E	-	1	0	CHD4	6570953	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	GAA		0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
CD163L1	283316	broad.mit.edu	37	12	7531675	7531675	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:7531675G>T	ENST00000313599.3	-	9	2327	c.2270C>A	c.(2269-2271)tCt>tAt	p.S757Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.S757Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.S767Y|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	757	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S757Y(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGTGCAGCCAGAATTCGACAT	0.458																																					p.S757Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2270A	12						.						86.0	79.0	81.0					12																	7531675		2203	4300	6503	7422942	SO:0001583	missense	283316	exon9			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2270C>A	12.37:g.7531675G>T	ENSP00000315945:p.Ser757Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	7422942	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472319	0.26423	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35048	1.33;1.33;1.33	2.03	-4.06	0.03986	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.721978	0.10714	U	0.642530	T	0.33323	0.0859	N	0.22421	0.69	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.71184	0.972;0.972	T	0.15350	-1.0440	10	0.41790	T	0.15	.	1.9336	0.03332	0.2446:0.4365:0.1684:0.1504	.	767;757	E7EVK4;Q9NR16	.;C163B_HUMAN	Y	757;767;757	ENSP00000315945:S757Y;ENSP00000393474:S767Y;ENSP00000379871:S757Y	ENSP00000315945:S757Y	S	-	2	0	CD163L1	7422942	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.377000	0.07456	-1.621000	0.01562	0.455000	0.32223	TCT		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
CD163	9332	broad.mit.edu	37	12	7655079	7655079	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:7655079G>T	ENST00000359156.4	-	2	330	c.128C>A	c.(127-129)tCt>tAt	p.S43Y	CD163_ENST00000432237.2_Missense_Mutation_p.S43Y|CD163_ENST00000541972.1_Missense_Mutation_p.S31Y|CD163_ENST00000396620.3_Missense_Mutation_p.S43Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	43					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S43Y(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTCACCAAGAGAactggtgac	0.398																																					p.S43Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128A	12						.						80.0	72.0	75.0					12																	7655079		2202	4300	6502	7546346	SO:0001583	missense	9332	exon2			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.128C>A	12.37:g.7655079G>T	ENSP00000352071:p.Ser43Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	7546346	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963095	0.34659	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01287	5.05;5.06;5.06;5.06	3.42	3.42	0.39159	.	1.052470	0.07572	N	0.918710	T	0.05364	0.0142	L	0.61218	1.895	0.80722	D	1	D;D;D	0.64830	0.994;0.969;0.971	P;P;P	0.57371	0.819;0.648;0.548	T	0.47394	-0.9121	10	0.39692	T	0.17	.	10.62	0.45474	0.0:0.0:1.0:0.0	.	43;43;43	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	43;31;43;43	ENSP00000352071:S43Y;ENSP00000444071:S31Y;ENSP00000379863:S43Y;ENSP00000403885:S43Y	ENSP00000352071:S43Y	S	-	2	0	CD163	7546346	0.986000	0.35501	0.876000	0.34364	0.219000	0.24729	1.372000	0.34261	2.163000	0.67991	0.563000	0.77884	TCT		0.398	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
SLC2A14	144195	broad.mit.edu	37	12	7973818	7973818	+	Splice_Site	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:7973818G>T	ENST00000543909.1	-	13	1796	c.1037C>A	c.(1036-1038)tCt>tAt	p.S346Y	SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000539924.1_Splice_Site_p.S361Y|SLC2A14_ENST00000396589.2_Splice_Site_p.S346Y|SLC2A14_ENST00000431042.2_Splice_Site_p.S323Y|SLC2A14_ENST00000340749.5_Splice_Site_p.S323Y|SLC2A14_ENST00000535295.1_Splice_Site_p.S237Y|SLC2A14_ENST00000542546.1_Splice_Site_p.S237Y			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	346					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.S346Y(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCAACTTACAGAAAGTAAAGT	0.418																																					p.S346Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1037A	12						.						107.0	98.0	101.0					12																	7973818		2203	4300	6503	7865085	SO:0001630	splice_region_variant	144195	exon9			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1038+1C>A	12.37:g.7973818G>T		Somatic		Capture	Illumina HiSeq	Phase_I	7865085	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.588082	0.46110	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	2.98	2.98	0.34508	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	H	0.98005	4.125	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.997;0.997	D	0.93282	0.6661	10	0.87932	D	0	.	11.7068	0.51601	0.0:0.0:1.0:0.0	.	361;237;323;346	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	Y	323;346;323;346;237;237;361	ENSP00000340450:S323Y;ENSP00000440480:S346Y;ENSP00000407287:S323Y;ENSP00000379834:S346Y;ENSP00000440492:S237Y;ENSP00000443903:S237Y;ENSP00000445929:S361Y	ENSP00000340450:S323Y	S	-	2	0	SLC2A14	7865085	1.000000	0.71417	0.913000	0.36048	0.359000	0.29487	8.705000	0.91357	1.356000	0.45884	0.305000	0.20034	TCT		0.418	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	Missense_Mutation
CLEC4E	26253	broad.mit.edu	37	12	8689804	8689804	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:8689804G>T	ENST00000299663.3	-	4	444	c.279C>A	c.(277-279)ttC>ttA	p.F93L	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	93	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F93L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CAGTAGAAAAGAAGTAGCAGC	0.468																																					p.F93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C279A	12						.						103.0	99.0	100.0					12																	8689804		2203	4300	6503	8581071	SO:0001583	missense	26253	exon4			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.279C>A	12.37:g.8689804G>T	ENSP00000299663:p.Phe93Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8581071	NM_014358	B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	CCDS8594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.81|12.81	2.048252|2.048252	0.36181|0.36181	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000299663|ENST00000537698	T|.	0.62364|.	0.03|.	5.23|5.23	1.28|1.28	0.21552|0.21552	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);|.	0.313747|.	0.27595|.	N|.	0.018672|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.17248|0.17248	0.465|0.465	0.80722|0.80722	D|D	1|1	B|.	0.17465|.	0.022|.	B|.	0.14578|.	0.011|.	T|T	0.04427|0.04427	-1.0952|-1.0952	10|5	0.45353|.	T|.	0.12|.	.|.	3.9891|3.9891	0.09529|0.09529	0.1786:0.0:0.4926:0.3288|0.1786:0.0:0.4926:0.3288	.|.	93|.	Q9ULY5|.	CLC4E_HUMAN|.	L|Y	93|33	ENSP00000299663:F93L|.	ENSP00000299663:F93L|.	F|S	-|-	3|2	2|0	CLEC4E|CLEC4E	8581071|8581071	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.898000|0.898000	0.52572|0.52572	0.604000|0.604000	0.24164|0.24164	0.135000|0.135000	0.18707|0.18707	0.591000|0.591000	0.81541|0.81541	TTC|TCT		0.468	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358	
A2M	2	broad.mit.edu	37	12	9264788	9264788	+	Silent	SNP	G	G	A	rs368366089		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:9264788G>A	ENST00000318602.7	-	4	757	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	150					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.S150S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTTCATCCATGGAGACAACAC	0.398																																					p.S150S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	12						.	G		0,3650		0,0,1825	69.0	67.0	68.0		450	-2.6	0.9	12		68	1,8149		0,1,4074	no	coding-synonymous	A2M	NM_000014.4		0,1,5899	AA,AG,GG		0.0123,0.0,0.0085		150/1475	9264788	1,11799	1825	4075	5900	9156055	SO:0001819	synonymous_variant	2	exon4			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.450C>T	12.37:g.9264788G>A		Somatic		Capture	Illumina HiSeq	Phase_I	9156055	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.398	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
PZP	5858	broad.mit.edu	37	12	9313659	9313659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:9313659C>A	ENST00000261336.2	-	23	2870	c.2842G>T	c.(2842-2844)Gaa>Taa	p.E948*	PZP_ENST00000381997.2_Nonsense_Mutation_p.E734*|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	948					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E734*(1)|p.E948*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTGGCAGATTCTTTGACCACA	0.428																																					p.E948X	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2842T	12						.						95.0	91.0	93.0					12																	9313659		2203	4300	6503	9204926	SO:0001587	stop_gained	5858	exon23			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2842G>T	12.37:g.9313659C>A	ENSP00000261336:p.Glu948*	Somatic		Capture	Illumina HiSeq	Phase_I	9204926	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898961	0.72754	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.8	2.9	0.33743	.	0.317275	0.23736	U	0.045079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.5524	0.50729	0.0:0.9075:0.0:0.0925	.	.	.	.	X	948;734	.	ENSP00000261336:E948X	E	-	1	0	PZP	9204926	0.595000	0.26857	0.073000	0.20177	0.222000	0.24845	6.562000	0.73960	0.890000	0.36211	0.563000	0.77884	GAA		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
CD69	969	broad.mit.edu	37	12	9908933	9908933	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:9908933G>T	ENST00000228434.3	-	2	227	c.147C>A	c.(145-147)gtC>gtA	p.V49V	CD69_ENST00000536709.1_Silent_p.V49V	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	49					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.V49V(1)		endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TGGTGATGAAGACCACATTCA	0.458																																					p.V49V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147A	12						.						186.0	158.0	167.0					12																	9908933		2203	4300	6503	9800200	SO:0001819	synonymous_variant	969	exon2			Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.147C>A	12.37:g.9908933G>T		Somatic		Capture	Illumina HiSeq	Phase_I	9800200	NM_001781		Silent	SNP	ENST00000228434.3	37	CCDS8604.1																																																																																				0.458	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1		
KLRF1	51348	broad.mit.edu	37	12	9986018	9986018	+	Missense_Mutation	SNP	C	C	A	rs201895572		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:9986018C>A	ENST00000279544.3	+	3	368	c.304C>A	c.(304-306)Ctt>Att	p.L102I	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Intron|KLRF1_ENST00000537723.1_Missense_Mutation_p.L102I	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	102					cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.L102I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						TAATAAGGACCTTTGTGCTTC	0.368																																					p.L102I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304A	12						.						120.0	114.0	116.0					12																	9986018		1861	4103	5964	9877285	SO:0001583	missense	51348	exon3			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.304C>A	12.37:g.9986018C>A	ENSP00000279544:p.Leu102Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9877285	NM_016523	Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.026973	0.08054	.	.	ENSG00000150045	ENST00000279544;ENST00000537723	T;T	0.49139	4.96;0.79	2.75	-0.39	0.12450	.	.	.	.	.	T	0.25901	0.0631	L	0.27053	0.805	0.09310	N	1	B;B	0.22003	0.021;0.063	B;B	0.16289	0.004;0.015	T	0.16928	-1.0386	8	.	.	.	.	1.2075	0.01898	0.2469:0.4062:0.2083:0.1386	.	102;102	Q9NZS2;Q4KN30	KLRF1_HUMAN;.	I	102	ENSP00000279544:L102I;ENSP00000443054:L102I	.	L	+	1	0	KLRF1	9877285	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.236000	0.17967	-0.067000	0.12976	-0.514000	0.04452	CTT		0.368	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523	
GRIN2B	2904	broad.mit.edu	37	12	13724823	13724823	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:13724823G>A	ENST00000609686.1	-	10	2295	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	696					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R696C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGTTATTGCGAATATTTCTC	0.483																																					p.R696C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2086T	12						.						220.0	180.0	194.0					12																	13724823		2203	4300	6503	13616090	SO:0001583	missense	2904	exon10				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2086C>T	12.37:g.13724823G>A	ENSP00000477455:p.Arg696Cys	Somatic		Capture	Illumina HiSeq	Phase_I	13616090	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733751	0.89482	.	.	ENSG00000150086	ENST00000279593	T	0.30714	1.52	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63747	-0.6567	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	696	Q13224	NMDE2_HUMAN	C	696	ENSP00000279593:R696C	ENSP00000279593:R696C	R	-	1	0	GRIN2B	13616090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.765000	0.62271	2.861000	0.98227	0.655000	0.94253	CGC		0.483	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GUCY2C	2984	broad.mit.edu	37	12	14829842	14829842	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:14829842C>T	ENST00000261170.3	-	7	1030	c.894G>A	c.(892-894)acG>acA	p.T298T	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	298					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.T298T(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGGAGACAGCGTCAGAACAA	0.348																																					p.T298T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G894A	12						.						72.0	72.0	72.0					12																	14829842		2203	4300	6503	14721109	SO:0001819	synonymous_variant	2984	exon7				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.894G>A	12.37:g.14829842C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14721109	NM_004963	B2RMY6	Silent	SNP	ENST00000261170.3	37	CCDS8664.1																																																																																				0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
HIST4H4	121504	broad.mit.edu	37	12	14923866	14923866	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:14923866G>T	ENST00000539745.1	-	1	199	c.153C>A	c.(151-153)atC>atA	p.I51I	HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	51					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.I51I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						TCTCCTCGTAGATGAGACCAG	0.612											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I51I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153A	12						.						68.0	61.0	64.0					12																	14923866		2203	4300	6503	14815133	SO:0001819	synonymous_variant	121504	exon1			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.153C>A	12.37:g.14923866G>T		Somatic	698	Capture	Illumina HiSeq	Phase_I	14815133	NM_175054	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000539745.1	37	CCDS8665.1																																																																																				0.612	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054	
PTPRO	5800	broad.mit.edu	37	12	15656996	15656996	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:15656996T>G	ENST00000281171.4	+	6	1590	c.1260T>G	c.(1258-1260)ttT>ttG	p.F420L	PTPRO_ENST00000543886.1_Missense_Mutation_p.F420L|PTPRO_ENST00000348962.2_Missense_Mutation_p.F420L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	420	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.F420L(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CACTCAGCTTTTATATCAGTA	0.368																																					p.F420L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1260G	12						.						66.0	62.0	64.0					12																	15656996		2203	4300	6503	15548263	SO:0001583	missense	5800	exon6			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1260T>G	12.37:g.15656996T>G	ENSP00000281171:p.Phe420Leu	Somatic		Capture	Illumina HiSeq	Phase_I	15548263	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.911935	0.72983	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.05139	3.57;3.49	4.77	2.44	0.29823	.	0.000000	0.53938	D	0.000060	T	0.10508	0.0257	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.985;0.97	T	0.37731	-0.9693	10	0.10377	T	0.69	.	7.3315	0.26586	0.0:0.2492:0.0:0.7508	.	420;420;420	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	L	420	ENSP00000281171:F420L;ENSP00000343434:F420L	ENSP00000281171:F420L	F	+	3	2	PTPRO	15548263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.932000	0.28884	0.428000	0.26173	0.533000	0.62120	TTT		0.368	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
RERGL	79785	broad.mit.edu	37	12	18238611	18238611	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:18238611C>T	ENST00000229002.2	-	4	335	c.129G>A	c.(127-129)aaG>aaA	p.K43K	RERGL_ENST00000538724.1_Silent_p.K42K|RERGL_ENST00000536890.1_Silent_p.K42K|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	43	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.K43K(1)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AACACAAGTGCTTCTTATAGA	0.299																																					p.K43K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G129A	12						.						100.0	103.0	102.0					12																	18238611		2202	4297	6499	18129878	SO:0001819	synonymous_variant	79785	exon4			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.129G>A	12.37:g.18238611C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18129878	NM_024730		Silent	SNP	ENST00000229002.2	37	CCDS8679.1																																																																																				0.299	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730	
PIK3C2G	5288	broad.mit.edu	37	12	18435082	18435082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:18435082G>T	ENST00000266497.5	+	1	105	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.E23*|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	23					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E23*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAACACCAAGAATTTCTCTT	0.388																																					p.E23X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G67T	12						.						63.0	59.0	60.0					12																	18435082		1856	4097	5953	18326349	SO:0001587	stop_gained	5288	exon2			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.67G>T	12.37:g.18435082G>T	ENSP00000266497:p.Glu23*	Somatic		Capture	Illumina HiSeq	Phase_I	18326349	NM_004570	A1L3U0	Nonsense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728127	0.69074	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.37	2.34	0.29019	.	0.855669	0.10069	N	0.719903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.0495	11.1691	0.48560	0.0:0.4828:0.5172:0.0	.	.	.	.	X	23	.	ENSP00000266497:E23X	E	+	1	0	PIK3C2G	18326349	0.027000	0.19231	0.014000	0.15608	0.447000	0.32167	1.490000	0.35573	0.630000	0.30394	0.655000	0.94253	GAA		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PIK3C2G	5288	broad.mit.edu	37	12	18649008	18649008	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:18649008T>G	ENST00000266497.5	+	19	2721	c.2683T>G	c.(2683-2685)Ttt>Gtt	p.F895V	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.F895V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.F936V			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	895					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.F895V(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGTTCATATTTTACATCTAA	0.353																																					p.F895V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2683G	12						.						121.0	104.0	109.0					12																	18649008		1820	4058	5878	18540275	SO:0001583	missense	5288	exon20			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2683T>G	12.37:g.18649008T>G	ENSP00000266497:p.Phe895Val	Somatic		Capture	Illumina HiSeq	Phase_I	18540275	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925414	0.73213	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.81659	-1.52;-1.52;-1.52	4.36	4.36	0.52297	Protein kinase-like domain (1);	0.068026	0.64402	D	0.000010	D	0.89746	0.6804	M	0.86864	2.845	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.68192	0.905;0.956;0.905	D	0.91507	0.5224	10	0.87932	D	0	-15.7239	13.3619	0.60661	0.0:0.0:0.0:1.0	.	935;936;895	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	V	895;895;936	ENSP00000404845:F895V;ENSP00000266497:F895V;ENSP00000445381:F936V	ENSP00000266497:F895V	F	+	1	0	PIK3C2G	18540275	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.430000	0.80321	2.180000	0.69256	0.528000	0.53228	TTT		0.353	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
SLCO1B3	28234	broad.mit.edu	37	12	21036471	21036471	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:21036471A>C	ENST00000381545.3	+	13	1836	c.1617A>C	c.(1615-1617)gcA>gcC	p.A539A	SLCO1B3_ENST00000261196.2_Silent_p.A539A|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.A539A|SLCO1B3_ENST00000553473.1_Silent_p.A539A|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	539					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.A539A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCTATGTTGCAATTCAAGTCA	0.368																																					p.A539A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1617C	12						.						108.0	108.0	108.0					12																	21036471		2203	4300	6503	20927738	SO:0001819	synonymous_variant	28234	exon12				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1617A>C	12.37:g.21036471A>C		Somatic		Capture	Illumina HiSeq	Phase_I	20927738	NM_019844	E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	CCDS8684.1																																																																																				0.368	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
SLCO1B1	10599	broad.mit.edu	37	12	21325721	21325721	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:21325721A>C	ENST00000256958.2	+	3	318	c.222A>C	c.(220-222)gaA>gaC	p.E74D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	74					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.E74D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GAAGCTTTGAAATTGGTAACA	0.303																																					p.E74D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A222C	12						.						86.0	80.0	82.0					12																	21325721		2202	4299	6501	21216988	SO:0001583	missense	10599	exon3				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.222A>C	12.37:g.21325721A>C	ENSP00000256958:p.Glu74Asp	Somatic		Capture	Illumina HiSeq	Phase_I	21216988	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171102	0.57584	.	.	ENSG00000134538	ENST00000256958	T	0.37235	1.21	3.36	3.36	0.38483	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.45137	1.4	0.42046	D	0.991094	D	0.64830	0.994	D	0.70016	0.967	T	0.44143	-0.9347	10	0.72032	D	0.01	.	3.9475	0.09355	0.6766:0.0:0.3234:0.0	.	74	Q9Y6L6	SO1B1_HUMAN	D	74	ENSP00000256958:E74D	ENSP00000256958:E74D	E	+	3	2	SLCO1B1	21216988	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.460000	0.45031	1.526000	0.49068	0.260000	0.18958	GAA		0.303	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
GOLT1B	51026	broad.mit.edu	37	12	21661413	21661413	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:21661413C>A	ENST00000229314.5	+	3	323	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	GOLT1B_ENST00000540141.1_Missense_Mutation_p.L72M|GOLT1B_ENST00000542038.1_Missense_Mutation_p.L8M|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	72	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)	p.L72M(1)		large_intestine(2)|lung(3)	5						AGGTTTTTTTCTGGGTGGTGT	0.343																																					p.L72M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C214A	12						.						100.0	102.0	102.0					12																	21661413		2203	4300	6503	21552680	SO:0001583	missense	51026	exon3			AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.214C>A	12.37:g.21661413C>A	ENSP00000229314:p.Leu72Met	Somatic		Capture	Illumina HiSeq	Phase_I	21552680	NM_016072	B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP	ENST00000229314.5	37	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964465	0.74131	.	.	ENSG00000111711	ENST00000542038;ENST00000540141;ENST00000229314	T;T;T	0.48201	0.82;0.82;0.82	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	M	0.79258	2.445	0.58432	D	0.999999	D	0.61697	0.99	D	0.67725	0.953	T	0.71862	-0.4464	10	0.62326	D	0.03	-3.2274	20.2789	0.98501	0.0:1.0:0.0:0.0	.	72	Q9Y3E0	GOT1B_HUMAN	M	8;72;72	ENSP00000446231:L8M;ENSP00000437351:L72M;ENSP00000229314:L72M	ENSP00000229314:L72M	L	+	1	2	GOLT1B	21552680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.295000	0.51794	2.788000	0.95919	0.650000	0.86243	CTG		0.343	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	NM_016072	
GYS2	2998	broad.mit.edu	37	12	21716187	21716187	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:21716187C>A	ENST00000261195.2	-	6	1170	c.916G>T	c.(916-918)Gat>Tat	p.D306Y		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	306					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.D306Y(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGAACAAAATCTTGGATTCTG	0.338																																					p.D306Y	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916T	12						.						88.0	93.0	91.0					12																	21716187		2203	4300	6503	21607454	SO:0001583	missense	2998	exon6				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.916G>T	12.37:g.21716187C>A	ENSP00000261195:p.Asp306Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21607454	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704535	0.88924	.	.	ENSG00000111713	ENST00000261195	T	0.68479	-0.33	5.11	5.11	0.69529	.	0.173694	0.50627	D	0.000108	T	0.81654	0.4868	M	0.79475	2.455	0.58432	D	0.999997	D	0.53151	0.958	P	0.62649	0.905	D	0.83872	0.0274	10	0.87932	D	0	-21.8102	18.7322	0.91739	0.0:1.0:0.0:0.0	.	306	P54840	GYS2_HUMAN	Y	306	ENSP00000261195:D306Y	ENSP00000261195:D306Y	D	-	1	0	GYS2	21607454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	2.650000	0.89964	0.655000	0.94253	GAT		0.338	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
ABCC9	10060	broad.mit.edu	37	12	22078907	22078907	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:22078907G>A	ENST00000261201.4	-	3	374	c.375C>T	c.(373-375)atC>atT	p.I125I	ABCC9_ENST00000261200.4_Silent_p.I125I|ABCC9_ENST00000345162.2_Silent_p.I125I|ABCC9_ENST00000538350.1_Silent_p.I125I|ABCC9_ENST00000326684.4_Silent_p.I125I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	125					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.I125I(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGATGTTTCGATATTATGAT	0.383																																					p.I125I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C375T	12						.						104.0	103.0	103.0					12																	22078907		2203	4300	6503	21970174	SO:0001819	synonymous_variant	10060	exon3			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.375C>T	12.37:g.22078907G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21970174	NM_020297	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ST8SIA1	6489	broad.mit.edu	37	12	22440150	22440150	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:22440150A>G	ENST00000396037.4	-	2	795	c.314T>C	c.(313-315)aTg>aCg	p.M105T	ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	105					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.M105T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATACCACATGCTCTTCCC	0.433																																					p.M105T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T314C	12						.						100.0	94.0	96.0					12																	22440150		2203	4300	6503	22331417	SO:0001583	missense	6489	exon2			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.314T>C	12.37:g.22440150A>G	ENSP00000379353:p.Met105Thr	Somatic		Capture	Illumina HiSeq	Phase_I	22331417	NM_003034	A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.782058	0.49891	.	.	ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868	T;T;T	0.29397	1.57;1.57;1.57	5.35	5.35	0.76521	.	0.315399	0.35179	N	0.003392	T	0.33585	0.0868	L	0.61036	1.89	0.80722	D	1	B	0.09022	0.002	B	0.24848	0.056	T	0.09618	-1.0666	9	.	.	.	-12.0331	13.9243	0.63952	1.0:0.0:0.0:0.0	.	105	Q92185	SIA8A_HUMAN	T	105;56;82	ENSP00000379353:M105T;ENSP00000441707:M56T;ENSP00000440292:M82T	.	M	-	2	0	ST8SIA1	22331417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.031000	0.59945	0.533000	0.62120	ATG		0.433	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034	
C2CD5	9847	broad.mit.edu	37	12	22606959	22606959	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:22606959A>G	ENST00000333957.4	-	24	2997	c.2742T>C	c.(2740-2742)ggT>ggC	p.G914G	C2CD5_ENST00000542676.1_Silent_p.G965G|C2CD5_ENST00000446597.1_Silent_p.G965G|C2CD5_ENST00000545552.1_Silent_p.G968G|C2CD5_ENST00000536386.1_Silent_p.G967G|C2CD5_ENST00000396028.2_Silent_p.G956G|C2CD5_ENST00000544930.1_Silent_p.G770G	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	914					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.G914G(1)									CATGGAGAAAACCACTGACTC	0.378																																					p.G914G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2742C	12						.						104.0	91.0	95.0					12																	22606959		2203	4300	6503	22498226	SO:0001819	synonymous_variant	9847	exon24			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2742T>C	12.37:g.22606959A>G		Somatic		Capture	Illumina HiSeq	Phase_I	22498226	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	A	9.104	1.004990	0.19199	.	.	ENSG00000111731	ENST00000539615	.	.	.	5.41	-9.71	0.00518	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48885	-0.8995	4	.	.	.	-17.4501	5.4203	0.16396	0.1416:0.1883:0.4849:0.1852	.	.	.	.	A	215	.	.	V	-	2	0	KIAA0528	22498226	0.020000	0.18652	0.674000	0.29902	0.995000	0.86356	-0.877000	0.04197	-1.845000	0.01176	0.459000	0.35465	GTT		0.378	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
C2CD5	9847	broad.mit.edu	37	12	22677465	22677465	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:22677465C>T	ENST00000333957.4	-	6	797	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	C2CD5_ENST00000542676.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000446597.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000545552.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000396028.2_Missense_Mutation_p.R181Q|C2CD5_ENST00000544930.1_5'UTR	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	181					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.R181Q(2)									TGTGCGAATTCGATCAATCCA	0.368																																					p.R181Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G542A	12						.						134.0	120.0	125.0					12																	22677465		2203	4300	6503	22568732	SO:0001583	missense	9847	exon6			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.542G>A	12.37:g.22677465C>T	ENSP00000334229:p.Arg181Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22568732	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939001	0.92526	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.95	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.48484	0.1502	L	0.48642	1.525	0.80722	D	1	D;P;P;D;P	0.69078	0.963;0.827;0.899;0.997;0.719	B;B;B;P;B	0.53722	0.432;0.119;0.17;0.733;0.119	T	0.51340	-0.8718	10	0.54805	T	0.06	-8.7416	14.6419	0.68732	0.146:0.854:0.0:0.0	.	181;181;181;181;181	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	Q	181	ENSP00000334229:R181Q;ENSP00000388756:R181Q;ENSP00000439392:R181Q;ENSP00000379345:R181Q;ENSP00000441951:R181Q;ENSP00000443204:R181Q	ENSP00000334229:R181Q	R	-	2	0	KIAA0528	22568732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	2.306000	0.77630	0.585000	0.79938	CGA		0.368	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
SOX5	6660	broad.mit.edu	37	12	23689427	23689427	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:23689427G>A	ENST00000451604.2	-	14	2049	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	SOX5_ENST00000309359.1_Missense_Mutation_p.R637C|SOX5_ENST00000537393.1_Missense_Mutation_p.R615C|SOX5_ENST00000541536.1_Missense_Mutation_p.R529C|SOX5_ENST00000396007.2_Missense_Mutation_p.R264C|SOX5_ENST00000546136.1_Missense_Mutation_p.R637C|SOX5_ENST00000381381.2_Missense_Mutation_p.R529C|SOX5_ENST00000545921.1_Missense_Mutation_p.R640C			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	650					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R650C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGCCTGTTGCGCATGATTGCC	0.483																																					p.R637C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1909T	12						.						112.0	91.0	98.0					12																	23689427		2203	4300	6503	23580694	SO:0001583	missense	6660	exon17			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1948C>T	12.37:g.23689427G>A	ENSP00000398273:p.Arg650Cys	Somatic		Capture	Illumina HiSeq	Phase_I	23580694	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157924	0.78114	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.5	3.61	0.41365	.	0.053140	0.64402	D	0.000001	T	0.74809	0.3765	M	0.79805	2.47	0.51012	D	0.999907	D;D;D	0.76494	0.999;0.999;0.994	P;D;P	0.65010	0.832;0.931;0.742	T	0.78937	-0.2007	10	0.87932	D	0	.	14.6959	0.69121	0.0:0.0:0.7346:0.2654	.	529;650;264	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	C	637;637;529;650;615;529;264;640	ENSP00000437487:R637C;ENSP00000308927:R637C;ENSP00000370788:R529C;ENSP00000398273:R650C;ENSP00000439832:R615C;ENSP00000441973:R529C;ENSP00000379328:R264C;ENSP00000443520:R640C	ENSP00000308927:R637C	R	-	1	0	SOX5	23580694	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.402000	0.59722	0.739000	0.32628	0.650000	0.86243	CGC		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
CASC1	55259	broad.mit.edu	37	12	25261645	25261645	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:25261645G>T	ENST00000320267.9	-	15	2069	c.1988C>A	c.(1987-1989)tCt>tAt	p.S663Y	CASC1_ENST00000395990.2_Missense_Mutation_p.S623Y|CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.S669Y|CASC1_ENST00000545133.1_Missense_Mutation_p.S604Y|CASC1_ENST00000354189.5_3'UTR	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	663								p.S669Y(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AAGTGCTTCAGAAAATGCCTC	0.398																																					p.S663Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1988A	12						.						105.0	106.0	106.0					12																	25261645		2203	4300	6503	25152912	SO:0001583	missense	55259	exon15			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1988C>A	12.37:g.25261645G>T	ENSP00000313141:p.Ser663Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	25152912	NM_001082973	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.877263|4.877263	0.91664|0.91664	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000395987;ENST00000320267;ENST00000395990;ENST00000545133	.|T;T;T;T	.|0.60171	.|0.78;0.78;0.21;0.21	5.83|5.83	4.93|4.93	0.64822|0.64822	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75744|0.75744	0.3891|0.3891	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.70935	.|0.971;0.936;0.971	T|T	0.79591|0.79591	-0.1740|-0.1740	5|10	.|0.72032	.|D	.|0.01	-18.8149|-18.8149	15.2748|15.2748	0.73734|0.73734	0.0:0.0:0.8587:0.1413|0.0:0.0:0.8587:0.1413	.|.	.|604;663;669	.|F5H6T6;Q6TDU7;F8W8F9	.|.;CASC1_HUMAN;.	L|Y	499|669;663;623;604	.|ENSP00000379310:S669Y;ENSP00000313141:S663Y;ENSP00000379313:S623Y;ENSP00000437373:S604Y	.|ENSP00000313141:S663Y	F|S	-|-	3|2	2|0	CASC1|CASC1	25152912|25152912	1.000000|1.000000	0.71417|0.71417	0.200000|0.200000	0.23457|0.23457	0.719000|0.719000	0.41307|0.41307	8.182000|8.182000	0.89698|0.89698	1.438000|1.438000	0.47492|0.47492	0.637000|0.637000	0.83480|0.83480	TTC|TCT		0.398	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25261725	25261725	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:25261725C>A	ENST00000320267.9	-	15	1989	c.1908G>T	c.(1906-1908)gaG>gaT	p.E636D	CASC1_ENST00000395990.2_Missense_Mutation_p.E596D|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Missense_Mutation_p.E642D|CASC1_ENST00000545133.1_Missense_Mutation_p.E577D|CASC1_ENST00000354189.5_Intron	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	636								p.E642D(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AATTAGGATTCTCAGTACATG	0.358																																					p.E636D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1908T	12						.						64.0	61.0	62.0					12																	25261725		2203	4300	6503	25152992	SO:0001583	missense	55259	exon15			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1908G>T	12.37:g.25261725C>A	ENSP00000313141:p.Glu636Asp	Somatic		Capture	Illumina HiSeq	Phase_I	25152992	NM_001082973	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.68|10.68	1.417915|1.417915	0.25552|0.25552	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000395987;ENST00000320267;ENST00000395990;ENST00000545133|ENST00000556006	T;T;T;T|.	0.51071|.	1.3;1.3;0.72;0.72|.	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	0.719722|0.719722	0.14362|0.14362	N|N	0.324399|0.324399	T|.	0.43077|.	0.1231|.	L|L	0.38531|0.38531	1.155|1.155	0.30739|0.30739	N|N	0.746393|0.746393	B;B;B|.	0.11235|.	0.004;0.001;0.004|.	B;B;B|.	0.11329|.	0.006;0.002;0.006|.	T|.	0.44922|.	-0.9296|.	10|.	0.19147|.	T|.	0.46|.	-0.0988|-0.0988	9.4577|9.4577	0.38764|0.38764	0.0:0.814:0.0:0.186|0.0:0.814:0.0:0.186	.|.	577;636;642|.	F5H6T6;Q6TDU7;F8W8F9|.	.;CASC1_HUMAN;.|.	D|X	642;636;596;577|473	ENSP00000379310:E642D;ENSP00000313141:E636D;ENSP00000379313:E596D;ENSP00000437373:E577D|.	ENSP00000313141:E636D|.	E|E	-|-	3|1	2|0	CASC1|CASC1	25152992|25152992	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.195000|0.195000	0.23768|0.23768	-0.532000|-0.532000	0.06164|0.06164	1.302000|1.302000	0.44855|0.44855	0.637000|0.637000	0.83480|0.83480	GAG|GAA		0.358	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
KRAS	3845	broad.mit.edu	37	12	25378647	25378647	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:25378647T>G	ENST00000256078.4	-	4	414	c.351A>C	c.(349-351)aaA>aaC	p.K117N	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.K117N	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	117			K -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.K117N(9)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCAAATCACATTTATTTCCTA	0.358		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.K117N	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,large_intestine,NS,Substitution - Missense,0 	.	9	Substitution - Missense(9)	large_intestine(8)|haematopoietic_and_lymphoid_tissue(1)	c.A351C	12						.						164.0	149.0	154.0					12																	25378647		2202	4299	6501	25269914	SO:0001583	missense	3845	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.351A>C	12.37:g.25378647T>G	ENSP00000256078:p.Lys117Asn	Somatic		Capture	Illumina HiSeq	Phase_I	25269914	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850395	0.71719	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.94650	-3.48;-2.31	5.52	0.583	0.17417	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.99940	5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.976;0.998	D	0.96017	0.9006	10	0.72032	D	0.01	.	9.1263	0.36816	0.0:0.4112:0.0:0.5888	.	117;117	P01116-2;P01116	.;RASK_HUMAN	N	117	ENSP00000308495:K117N;ENSP00000256078:K117N	ENSP00000256078:K117N	K	-	3	2	KRAS	25269914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.664000	0.25068	0.131000	0.18576	0.477000	0.44152	AAA		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
LMNTD1	160492	broad.mit.edu	37	12	25699346	25699346	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:25699346A>C	ENST00000282881.6	-	3	539	c.390T>G	c.(388-390)ttT>ttG	p.F130L	IFLTD1_ENST00000445693.1_Missense_Mutation_p.F67L|IFLTD1_ENST00000539744.1_Missense_Mutation_p.F33L|IFLTD1_ENST00000458174.2_Missense_Mutation_p.F151L|IFLTD1_ENST00000413632.2_Missense_Mutation_p.F151L	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		130					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)	p.F130L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GAATCATAGAAAAGTATTTTA	0.353																																					p.F67L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T201G	12						.						92.0	91.0	92.0					12																	25699346		2203	4299	6502	25590613	SO:0001583	missense	160492	exon2																														ENST00000282881.6:c.390T>G	12.37:g.25699346A>C	ENSP00000282881:p.Phe130Leu	Somatic		Capture	Illumina HiSeq	Phase_I	25590613	NM_001145727	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	A	6.093	0.385474	0.11524	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.13196	2.81;2.84;2.81;2.79;2.61	4.19	0.615	0.17608	.	.	.	.	.	T	0.05960	0.0155	N	0.11560	0.145	0.21416	N	0.999699	B;B;B;B	0.27229	0.024;0.055;0.172;0.014	B;B;B;B	0.24155	0.02;0.051;0.048;0.009	T	0.44003	-0.9356	9	0.19147	T	0.46	-6.1915	5.9816	0.19411	0.6736:0.0:0.3264:0.0	.	67;151;151;130	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	L	130;33;151;67;151;105;105	ENSP00000282881:F130L;ENSP00000443132:F33L;ENSP00000407353:F151L;ENSP00000407043:F67L;ENSP00000393150:F151L	ENSP00000282881:F130L	F	-	3	2	IFLTD1	25590613	0.919000	0.31177	0.966000	0.40874	0.086000	0.17979	-0.070000	0.11523	0.098000	0.17522	0.533000	0.62120	TTT		0.353	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1		
LMNTD1	160492	broad.mit.edu	37	12	25702432	25702432	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:25702432C>A	ENST00000282881.6	-	2	224	c.75G>T	c.(73-75)aaG>aaT	p.K25N	IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K46N|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K46N	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		25					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)	p.K25N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AACCCAACATCTTTGGGGAAA	0.338																																					p.K46N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	12						.						88.0	79.0	82.0					12																	25702432		2203	4298	6501	25593699	SO:0001583	missense	160492	exon3																														ENST00000282881.6:c.75G>T	12.37:g.25702432C>A	ENSP00000282881:p.Lys25Asn	Somatic		Capture	Illumina HiSeq	Phase_I	25593699	NM_001145728	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267362	0.23136	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632	T;T;T	0.16457	2.56;2.57;2.34	3.79	-0.276	0.12902	.	.	.	.	.	T	0.12050	0.0293	N	0.24115	0.695	0.09310	N	1	P;P;P	0.38020	0.615;0.615;0.48	B;B;B	0.42882	0.401;0.401;0.226	T	0.25187	-1.0139	9	0.66056	D	0.02	-9.8844	3.1405	0.06453	0.3646:0.4255:0.0:0.2099	.	46;46;25	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	N	25;46;46	ENSP00000282881:K25N;ENSP00000407353:K46N;ENSP00000393150:K46N	ENSP00000282881:K25N	K	-	3	2	IFLTD1	25593699	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.648000	0.05391	-0.062000	0.13088	0.591000	0.81541	AAG		0.338	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1		
BHLHE41	79365	broad.mit.edu	37	12	26276576	26276576	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:26276576A>G	ENST00000242728.4	-	4	680	c.333T>C	c.(331-333)atT>atC	p.I111I	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	111					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)	p.I111I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						TCTGTAAAGCAATTATCTTCT	0.507											OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I111I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T333C	12						.						127.0	117.0	120.0					12																	26276576		2202	4300	6502	26167843	SO:0001819	synonymous_variant	79365	exon4			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.333T>C	12.37:g.26276576A>G		Somatic	785	Capture	Illumina HiSeq	Phase_I	26167843	NM_030762	A2I2N8	Silent	SNP	ENST00000242728.4	37	CCDS8706.1																																																																																				0.507	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762	
ITPR2	3709	broad.mit.edu	37	12	26639047	26639047	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:26639047C>T	ENST00000381340.3	-	41	6217	c.5801G>A	c.(5800-5802)cGg>cAg	p.R1934Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1934					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R1934Q(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTGCAATTCCCGGTTGTGATT	0.383																																					p.R1934Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5801A	12						.						159.0	146.0	150.0					12																	26639047		1850	4097	5947	26530314	SO:0001583	missense	3709	exon41			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5801G>A	12.37:g.26639047C>T	ENSP00000370744:p.Arg1934Gln	Somatic		Capture	Illumina HiSeq	Phase_I	26530314	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800408	0.50315	.	.	ENSG00000123104	ENST00000381340	D	0.95035	-3.59	5.06	4.17	0.49024	RyR/IP3R Homology associated domain (1);	0.401211	0.27008	N	0.021383	D	0.91129	0.7207	L	0.39633	1.23	0.80722	D	1	B	0.24483	0.104	B	0.29524	0.103	D	0.87529	0.2451	10	0.27785	T	0.31	.	13.6322	0.62202	0.0:0.9258:0.0:0.0742	.	1934	Q14571	ITPR2_HUMAN	Q	1934	ENSP00000370744:R1934Q	ENSP00000370744:R1934Q	R	-	2	0	ITPR2	26530314	0.968000	0.33430	0.965000	0.40720	0.828000	0.46876	2.048000	0.41278	1.351000	0.45789	-0.140000	0.14226	CGG		0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26647178	26647178	+	Missense_Mutation	SNP	C	C	T	rs532227557		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:26647178C>T	ENST00000381340.3	-	39	5694	c.5278G>A	c.(5278-5280)Gat>Aat	p.D1760N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1760					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.D1760N(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACTATAACATCGATGACAAGT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		13551	0.001		0.0	False		,,,				2504	0.0				p.D1760N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5278A	12						.						107.0	93.0	98.0					12																	26647178		1864	4112	5976	26538445	SO:0001583	missense	3709	exon39			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5278G>A	12.37:g.26647178C>T	ENSP00000370744:p.Asp1760Asn	Somatic		Capture	Illumina HiSeq	Phase_I	26538445	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507034	0.85282	.	.	ENSG00000123104	ENST00000381340	D	0.89746	-2.56	4.53	4.53	0.55603	.	0.054388	0.64402	D	0.000001	D	0.93383	0.7890	M	0.81802	2.56	0.80722	D	1	D	0.69078	0.997	P	0.59357	0.856	D	0.92681	0.6158	10	0.35671	T	0.21	.	17.8354	0.88694	0.0:1.0:0.0:0.0	.	1760	Q14571	ITPR2_HUMAN	N	1760	ENSP00000370744:D1760N	ENSP00000370744:D1760N	D	-	1	0	ITPR2	26538445	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	5.566000	0.67372	2.503000	0.84419	0.591000	0.81541	GAT		0.403	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26703215	26703215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:26703215C>A	ENST00000381340.3	-	37	5454	c.5038G>T	c.(5038-5040)Gaa>Taa	p.E1680*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1680					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E1680*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTAACATTTCTCGTAATGTC	0.289																																					p.E1680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5038T	12						.						89.0	77.0	80.0					12																	26703215		1788	4055	5843	26594482	SO:0001587	stop_gained	3709	exon37			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5038G>T	12.37:g.26703215C>A	ENSP00000370744:p.Glu1680*	Somatic		Capture	Illumina HiSeq	Phase_I	26594482	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	49	15.167706	0.99824	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.14	5.14	0.70334	.	0.093648	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.0083	0.92861	0.0:1.0:0.0:0.0	.	.	.	.	X	1680	.	ENSP00000370744:E1680X	E	-	1	0	ITPR2	26594482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.248000	0.78268	2.567000	0.86603	0.563000	0.77884	GAA		0.289	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26812124	26812124	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:26812124C>A	ENST00000381340.3	-	16	2224	c.1808G>T	c.(1807-1809)aGa>aTa	p.R603I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	603					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R603I(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TAGTAGTTTTCTGTTGTTGTG	0.373																																					p.R603I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1808T	12						.						199.0	175.0	182.0					12																	26812124		1846	4084	5930	26703391	SO:0001583	missense	3709	exon16			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1808G>T	12.37:g.26812124C>A	ENSP00000370744:p.Arg603Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26703391	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980820	0.92982	.	.	ENSG00000123104	ENST00000381340	D	0.95656	-3.77	4.69	4.69	0.59074	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98799	1.0739	10	0.56958	D	0.05	.	17.84	0.88712	0.0:1.0:0.0:0.0	.	603	Q14571	ITPR2_HUMAN	I	603	ENSP00000370744:R603I	ENSP00000370744:R603I	R	-	2	0	ITPR2	26703391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	2.433000	0.82419	0.585000	0.79938	AGA		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
TM7SF3	51768	broad.mit.edu	37	12	27156314	27156314	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:27156314T>G	ENST00000343028.4	-	2	326	c.101A>C	c.(100-102)gAa>gCa	p.E34A	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	34						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E34A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CACAGAAAATTCAATAAGACC	0.323																																					p.E34A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101C	12						.						52.0	50.0	51.0					12																	27156314		2203	4298	6501	27047581	SO:0001583	missense	51768	exon2			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.101A>C	12.37:g.27156314T>G	ENSP00000342322:p.Glu34Ala	Somatic		Capture	Illumina HiSeq	Phase_I	27047581	NM_016551	B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627719	0.66901	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.33438	1.41	5.44	5.44	0.79542	.	0.218062	0.41294	D	0.000911	T	0.52058	0.1711	M	0.68317	2.08	0.41788	D	0.989856	D	0.63880	0.993	D	0.74674	0.984	T	0.51631	-0.8681	10	0.44086	T	0.13	-21.7717	13.3441	0.60561	0.0:0.0:0.0:1.0	.	34	Q9NS93	TM7S3_HUMAN	A	34;13;39	ENSP00000342322:E34A	ENSP00000342322:E34A	E	-	2	0	TM7SF3	27047581	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.403000	0.59729	2.197000	0.70478	0.455000	0.32223	GAA		0.323	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	
ERGIC2	51290	broad.mit.edu	37	12	29494110	29494110	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:29494110A>C	ENST00000360150.4	-	14	1188	c.1113T>G	c.(1111-1113)ctT>ctG	p.L371L		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	371					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.L371L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TATTTTCTAAAAGAGGTAAGT	0.318																																					p.L371L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1113G	12						.						65.0	59.0	61.0					12																	29494110		1813	4086	5899	29385377	SO:0001819	synonymous_variant	51290	exon14			AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.1113T>G	12.37:g.29494110A>C		Somatic		Capture	Illumina HiSeq	Phase_I	29385377	NM_016570	A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	37	CCDS41765.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776145	0.31411	.	.	ENSG00000087502	ENST00000551467	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	T	0.65471	0.2694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64175	-0.6469	4	.	.	.	.	13.0163	0.58759	1.0:0.0:0.0:0.0	.	.	.	.	C	203	.	.	F	-	2	0	ERGIC2	29385377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.845000	0.48254	2.323000	0.78572	0.528000	0.53228	TTT		0.318	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570	
OVCH1	341350	broad.mit.edu	37	12	29597102	29597102	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:29597102C>A	ENST00000318184.5	-	24	2992	c.2993G>T	c.(2992-2994)aGa>aTa	p.R998I	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	998						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R998I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTGAGAATTTCTTGGGATCTG	0.403																																					p.R998I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2993T	12						.						201.0	199.0	200.0					12																	29597102		1828	4090	5918	29488369	SO:0001583	missense	341350	exon24			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2993G>T	12.37:g.29597102C>A	ENSP00000326708:p.Arg998Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29488369	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	11.49	1.653139	0.29425	.	.	ENSG00000187950	ENST00000318184;ENST00000537054	T;T	0.35421	1.31;2.04	2.31	1.4	0.22301	CUB (2);	.	.	.	.	T	0.30947	0.0781	N	0.14661	0.345	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.10245	-1.0638	9	0.66056	D	0.02	.	5.0638	0.14572	0.0:0.8246:0.0:0.1754	.	998	Q7RTY7	OVCH1_HUMAN	I	998;23	ENSP00000326708:R998I;ENSP00000445480:R23I	ENSP00000326708:R998I	R	-	2	0	OVCH1	29488369	0.269000	0.24143	0.003000	0.11579	0.021000	0.10359	0.866000	0.27954	0.528000	0.28580	0.563000	0.77884	AGA		0.403	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	broad.mit.edu	37	12	29604298	29604298	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:29604298T>C	ENST00000318184.5	-	22	2734	c.2735A>G	c.(2734-2736)cAc>cGc	p.H912R	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	912	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.H912R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTCTTACTGTGTCTTTCTTC	0.428																																					p.H912R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2735G	12						.						55.0	53.0	54.0					12																	29604298		1883	4108	5991	29495565	SO:0001583	missense	341350	exon22			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2735A>G	12.37:g.29604298T>C	ENSP00000326708:p.His912Arg	Somatic		Capture	Illumina HiSeq	Phase_I	29495565	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	T	6.093	0.385498	0.11524	.	.	ENSG00000187950	ENST00000318184	T	0.33865	1.39	2.64	1.47	0.22746	CUB (5);	.	.	.	.	T	0.20820	0.0501	N	0.19112	0.55	0.09310	N	1	B	0.27286	0.174	B	0.29176	0.099	T	0.26189	-1.0110	9	0.23891	T	0.37	.	5.8264	0.18556	0.0:0.0:0.2756:0.7244	.	912	Q7RTY7	OVCH1_HUMAN	R	912	ENSP00000326708:H912R	ENSP00000326708:H912R	H	-	2	0	OVCH1	29495565	0.001000	0.12720	0.134000	0.22075	0.072000	0.16883	0.431000	0.21444	0.427000	0.26145	-0.714000	0.03626	CAC		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
TMTC1	83857	broad.mit.edu	37	12	29689208	29689208	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:29689208A>C	ENST00000539277.1	-	11	1777	c.1719T>G	c.(1717-1719)gaT>gaG	p.D573E	TMTC1_ENST00000552618.1_Missense_Mutation_p.D597E|TMTC1_ENST00000381224.2_Missense_Mutation_p.D527E|TMTC1_ENST00000551659.1_Missense_Mutation_p.D635E|TMTC1_ENST00000256062.5_Missense_Mutation_p.D465E|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	573						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.D465E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATTTGATGGAATCCTTCAGTA	0.373																																					p.D573E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1719G	12						.						190.0	178.0	182.0					12																	29689208		2203	4300	6503	29580475	SO:0001583	missense	83857	exon11				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1719T>G	12.37:g.29689208A>C	ENSP00000442046:p.Asp573Glu	Somatic		Capture	Illumina HiSeq	Phase_I	29580475	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601441	0.28534	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.60424	0.19;0.9;0.38;0.9;0.19	5.6	-3.45	0.04781	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.342489	0.30611	N	0.009242	T	0.20292	0.0488	N	0.02960	-0.455	0.27426	N	0.954159	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.002	T	0.12708	-1.0537	9	.	.	.	-7.2933	1.9286	0.03322	0.2454:0.2658:0.3509:0.1378	.	527;573;635	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	E	336;465;635;597;573;527	ENSP00000256062:D465E;ENSP00000448112:D635E;ENSP00000449043:D597E;ENSP00000442046:D573E;ENSP00000370622:D527E	.	D	-	3	2	TMTC1	29580475	0.933000	0.31639	0.988000	0.46212	0.991000	0.79684	-0.043000	0.12043	-0.495000	0.06659	0.533000	0.62120	GAT		0.373	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
IPO8	10526	broad.mit.edu	37	12	30805937	30805937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:30805937C>A	ENST00000256079.4	-	18	2376	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	IPO8_ENST00000544829.1_Nonsense_Mutation_p.E475*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	680					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.E680*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGAAACACTTCATATAGTATA	0.373																																					p.E680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2038T	12						.						66.0	71.0	69.0					12																	30805937		2201	4300	6501	30697204	SO:0001587	stop_gained	10526	exon18			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2038G>T	12.37:g.30805937C>A	ENSP00000256079:p.Glu680*	Somatic		Capture	Illumina HiSeq	Phase_I	30697204	NM_006390	B7Z7M3	Nonsense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	42	9.784900	0.99263	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	.	.	.	4.82	3.93	0.45458	.	0.169570	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.8254	15.4384	0.75165	0.0:0.8603:0.1397:0.0	.	.	.	.	X	680;156;475	.	ENSP00000256079:E680X	E	-	1	0	IPO8	30697204	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	4.705000	0.61838	1.136000	0.42199	-0.150000	0.13652	GAA		0.373	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
IPO8	10526	broad.mit.edu	37	12	30826934	30826934	+	Missense_Mutation	SNP	C	C	T	rs144037040		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:30826934C>T	ENST00000256079.4	-	8	1237	c.899G>A	c.(898-900)gGc>gAc	p.G300D	IPO8_ENST00000544829.1_Missense_Mutation_p.G95D	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	300					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.G300D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGCTGAATGCCCACTGCATA	0.313																																					p.G300D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	12						.	C	ASP/GLY,ASP/GLY	1,4401	2.1+/-5.4	0,1,2200	47.0	50.0	49.0		284,899	4.6	1.0	12	dbSNP_134	49	0,8592		0,0,4296	no	missense,missense	IPO8	NM_001190995.1,NM_006390.3	94,94	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	95/833,300/1038	30826934	1,12993	2201	4296	6497	30718201	SO:0001583	missense	10526	exon8			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.899G>A	12.37:g.30826934C>T	ENSP00000256079:p.Gly300Asp	Somatic		Capture	Illumina HiSeq	Phase_I	30718201	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136304	0.77662	2.27E-4	0.0	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.66099	-0.19;-0.19;-0.19	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.81682	2.555	0.80722	D	1	D;P	0.59767	0.986;0.902	D;P	0.63597	0.916;0.842	T	0.74774	-0.3551	10	0.20046	T	0.44	-21.7216	17.9712	0.89113	0.0:1.0:0.0:0.0	.	95;300	B7Z7M3;O15397	.;IPO8_HUMAN	D	300;95;114	ENSP00000256079:G300D;ENSP00000444520:G95D;ENSP00000439556:G114D	ENSP00000256079:G300D	G	-	2	0	IPO8	30718201	0.989000	0.36119	1.000000	0.80357	0.972000	0.66771	2.852000	0.48310	2.541000	0.85698	0.655000	0.94253	GGC		0.313	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
IPO8	10526	broad.mit.edu	37	12	30833431	30833431	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:30833431A>C	ENST00000256079.4	-	5	962	c.624T>G	c.(622-624)ttT>ttG	p.F208L		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	208					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.F208L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAAGTGCATAAAAGATTTTCA	0.373																																					p.F208L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T624G	12						.						81.0	85.0	84.0					12																	30833431		2203	4300	6503	30724698	SO:0001583	missense	10526	exon5			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.624T>G	12.37:g.30833431A>C	ENSP00000256079:p.Phe208Leu	Somatic		Capture	Illumina HiSeq	Phase_I	30724698	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852303	0.71719	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.56275	0.47;0.47	4.65	-4.56	0.03431	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.52266	1.64	0.80722	D	1	P	0.37141	0.584	P	0.47134	0.539	T	0.58075	-0.7700	10	0.51188	T	0.08	-18.8941	18.402	0.90519	0.153:0.0:0.847:0.0	.	208	O15397	IPO8_HUMAN	L	208;146	ENSP00000256079:F208L;ENSP00000440979:F146L	ENSP00000256079:F208L	F	-	3	2	IPO8	30724698	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	1.312000	0.33574	-0.780000	0.04553	0.477000	0.44152	TTT		0.373	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
SYT10	341359	broad.mit.edu	37	12	33560221	33560221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:33560221C>A	ENST00000228567.3	-	3	876	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Nonsense_Mutation_p.E13*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	194					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.E194*(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACAGGTTCTGTGCCCATG	0.448																																					p.E194X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.G580T	12						.						162.0	150.0	154.0					12																	33560221		2203	4300	6503	33451488	SO:0001587	stop_gained	341359	exon3			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.580G>T	12.37:g.33560221C>A	ENSP00000228567:p.Glu194*	Somatic		Capture	Illumina HiSeq	Phase_I	33451488	NM_198992	Q495U2	Nonsense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	37	6.224620	0.97390	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	.	.	.	4.66	4.66	0.58398	.	0.162759	0.28425	U	0.015386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	15.5979	0.76602	0.0:1.0:0.0:0.0	.	.	.	.	X	194;13	.	ENSP00000228567:E194X	E	-	1	0	SYT10	33451488	0.996000	0.38824	0.860000	0.33809	0.845000	0.48019	3.103000	0.50298	2.524000	0.85096	0.563000	0.77884	GAA		0.448	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
ALG10	84920	broad.mit.edu	37	12	34175693	34175693	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:34175693C>A	ENST00000266483.2	+	1	478	c.159C>A	c.(157-159)ttC>ttA	p.F53L	ALG10_ENST00000538927.1_Missense_Mutation_p.F53L|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	53					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.F53L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGGCCATTTCTCCCTTTCCC	0.642																																					p.F53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C159A	12						.						118.0	125.0	123.0					12																	34175693		2203	4300	6503	34066960	SO:0001583	missense	84920	exon1			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.159C>A	12.37:g.34175693C>A	ENSP00000266483:p.Phe53Leu	Somatic		Capture	Illumina HiSeq	Phase_I	34066960	NM_032834	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120604	0.56613	.	.	ENSG00000139133	ENST00000266483;ENST00000538927	T;T	0.60672	0.17;0.17	3.05	3.05	0.35203	.	0.048793	0.85682	D	0.000000	T	0.75354	0.3838	M	0.91872	3.25	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.77411	-0.2598	10	0.72032	D	0.01	.	6.1891	0.20513	0.0:0.8563:0.0:0.1437	.	53	Q5BKT4	AG10A_HUMAN	L	53	ENSP00000266483:F53L;ENSP00000444084:F53L	ENSP00000266483:F53L	F	+	3	2	ALG10	34066960	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	5.538000	0.67193	1.729000	0.51567	0.184000	0.17185	TTC		0.642	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834	
KIF21A	55605	broad.mit.edu	37	12	39734896	39734896	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:39734896G>A	ENST00000361418.5	-	15	1937	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V	KIF21A_ENST00000541463.2_Splice_Site_p.A628V|KIF21A_ENST00000544797.2_Splice_Site_p.A628V|KIF21A_ENST00000395670.3_Splice_Site_p.A641V|KIF21A_ENST00000361961.3_Splice_Site_p.A628V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	641					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A628V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTGATAATTGGCTATTTATAA	0.338																																					p.A628V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1883T	12						.						43.0	38.0	40.0					12																	39734896		2202	4297	6499	38021163	SO:0001630	splice_region_variant	55605	exon14			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1922-1C>T	12.37:g.39734896G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38021163	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009196	0.35415	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.63	5.63	0.86233	.	0.155218	0.30383	U	0.009759	T	0.64114	0.2569	N	0.11673	0.155	0.33667	D	0.610489	P;D;B;P	0.67145	0.933;0.996;0.008;0.787	P;D;B;B	0.73380	0.542;0.98;0.017;0.397	T	0.66697	-0.5858	10	0.18710	T	0.47	.	13.6578	0.62348	0.0:0.0:0.7418:0.2582	.	628;628;641;628	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	V	628;641;641;628;641;628	ENSP00000354851:A628V;ENSP00000379029:A641V;ENSP00000445606:A628V;ENSP00000354878:A641V;ENSP00000438075:A628V	ENSP00000344501:A641V	A	-	2	0	KIF21A	38021163	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.706000	0.47135	2.632000	0.89209	0.557000	0.71058	GCC		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Missense_Mutation
KIF21A	55605	broad.mit.edu	37	12	39761753	39761753	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:39761753G>T	ENST00000361418.5	-	4	547	c.532C>A	c.(532-534)Cat>Aat	p.H178N	KIF21A_ENST00000541463.2_Missense_Mutation_p.H178N|KIF21A_ENST00000544797.2_Missense_Mutation_p.H178N|KIF21A_ENST00000395670.3_Missense_Mutation_p.H178N|KIF21A_ENST00000361961.3_Missense_Mutation_p.H178N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	178	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H178N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAATCTTCATGAATTCTTATA	0.299																																					p.H178N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532A	12						.						90.0	101.0	97.0					12																	39761753		2202	4291	6493	38048020	SO:0001583	missense	55605	exon4			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.532C>A	12.37:g.39761753G>T	ENSP00000354878:p.His178Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38048020	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887954	0.91814	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000050	D	0.82664	0.5086	L	0.55017	1.72	0.80722	D	1	P;D;P;D;D	0.76494	0.952;0.969;0.952;0.999;0.991	P;D;P;D;P	0.87578	0.859;0.968;0.859;0.998;0.859	T	0.83172	-0.0093	10	0.87932	D	0	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	178;178;178;178;178	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	N	178	ENSP00000354851:H178N;ENSP00000379029:H178N;ENSP00000445606:H178N;ENSP00000354878:H178N;ENSP00000438075:H178N	ENSP00000344501:H178N	H	-	1	0	KIF21A	38048020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.094000	0.94168	2.732000	0.93576	0.650000	0.86243	CAT		0.299	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ABCD2	225	broad.mit.edu	37	12	40010919	40010919	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:40010919T>A	ENST00000308666.3	-	2	1126	c.991A>T	c.(991-993)Aac>Tac	p.N331Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	331	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.N331Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAAATGAGGTTCATCTGATCT	0.343																																					p.N331Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A991T	12						.						149.0	138.0	142.0					12																	40010919		2203	4300	6503	38297186	SO:0001583	missense	225	exon2			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.991A>T	12.37:g.40010919T>A	ENSP00000310688:p.Asn331Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38297186	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944413	0.53079	.	.	ENSG00000173208	ENST00000308666	D	0.91237	-2.81	5.0	5.0	0.66597	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.046062	0.85682	D	0.000000	D	0.91922	0.7442	M	0.87827	2.91	0.42323	D	0.992261	P	0.36837	0.571	B	0.38921	0.285	D	0.92167	0.5740	9	.	.	.	-6.3687	15.0052	0.71507	0.0:0.0:0.0:1.0	.	331	Q9UBJ2	ABCD2_HUMAN	Y	331	ENSP00000310688:N331Y	.	N	-	1	0	ABCD2	38297186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.837000	0.69381	1.999000	0.58509	0.533000	0.62120	AAC		0.343	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
ABCD2	225	broad.mit.edu	37	12	40012717	40012717	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:40012717T>C	ENST00000308666.3	-	1	836	c.701A>G	c.(700-702)gAt>gGt	p.D234G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	234	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.D234G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGCATTACATCTAAAATAGG	0.473																																					p.D234G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A701G	12						.						129.0	124.0	126.0					12																	40012717		2203	4300	6503	38298984	SO:0001583	missense	225	exon1			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.701A>G	12.37:g.40012717T>C	ENSP00000310688:p.Asp234Gly	Somatic		Capture	Illumina HiSeq	Phase_I	38298984	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748290	0.69533	.	.	ENSG00000173208	ENST00000308666	D	0.99755	-6.64	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96461	0.9341	9	.	.	.	-4.8151	14.6449	0.68754	0.0:0.0:0.0:1.0	.	234	Q9UBJ2	ABCD2_HUMAN	G	234	ENSP00000310688:D234G	.	D	-	2	0	ABCD2	38298984	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.553000	0.82203	1.849000	0.53698	0.455000	0.32223	GAT		0.473	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
PLEKHA8P1	51054	broad.mit.edu	37	12	45567506	45567506	+	RNA	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:45567506G>A	ENST00000256692.5	-	0	1179					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.P215S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTTCTGTGGGAATGCCACTG	0.428																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						235.0	210.0	218.0					12																	45567506		2203	4300	6503	43853773			51054	.			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567506G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43853773	.		Missense_Mutation	SNP	ENST00000256692.5	37																																																																																					0.428	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
ARID2	196528	broad.mit.edu	37	12	46242738	46242738	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:46242738T>G	ENST00000334344.6	+	13	1872	c.1700T>G	c.(1699-1701)tTt>tGt	p.F567C	ARID2_ENST00000422737.1_Missense_Mutation_p.F418C|ARID2_ENST00000444670.1_Missense_Mutation_p.F177C|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	567					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.F567C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAACTGGATTTTATAAATGT	0.338			"""N, S, F"""		hepatocellular carcinoma																																p.F567C			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1700G	12						.						85.0	85.0	85.0					12																	46242738		2203	4299	6502	44529005	SO:0001583	missense	196528	exon13				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1700T>G	12.37:g.46242738T>G	ENSP00000335044:p.Phe567Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44529005	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515096	0.64634	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	D;D;D	0.90133	-2.62;-2.62;-2.62	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94850	0.8336	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95318	0.8418	10	0.87932	D	0	-12.7523	16.0821	0.81012	0.0:0.0:0.0:1.0	.	567;567	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	C	567;418;177	ENSP00000335044:F567C;ENSP00000415650:F418C;ENSP00000397307:F177C	ENSP00000335044:F567C	F	+	2	0	ARID2	44529005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.200000	0.70718	0.460000	0.39030	TTT		0.338	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
SCAF11	9169	broad.mit.edu	37	12	46316731	46316731	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:46316731C>T	ENST00000369367.3	-	13	4346	c.4113G>A	c.(4111-4113)tcG>tcA	p.S1371S	SCAF11_ENST00000419565.2_Silent_p.S1371S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Silent_p.S1056S|SCAF11_ENST00000549162.1_Silent_p.S1179S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1371					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1371S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGTCTGTCTTCGAGCTATCTG	0.403																																					p.S1371S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4113A	12						.						175.0	169.0	171.0					12																	46316731		2203	4300	6503	44602998	SO:0001819	synonymous_variant	9169	exon13			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4113G>A	12.37:g.46316731C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44602998	NM_004719	A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																				0.403	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SENP1	29843	broad.mit.edu	37	12	48468320	48468320	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:48468320A>C	ENST00000004980.5	-	8	1205	c.727T>G	c.(727-729)Tct>Gct	p.S243A	SENP1_ENST00000549518.1_Missense_Mutation_p.S243A|SENP1_ENST00000448372.1_Missense_Mutation_p.S243A|SENP1_ENST00000549595.1_Missense_Mutation_p.S243A|SENP1_ENST00000551330.1_Missense_Mutation_p.S243A|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	243					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.S243A(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATGATCTGAGATGCACAAGAG	0.373																																					p.S243A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T727G	12						.						89.0	84.0	86.0					12																	48468320		1878	4112	5990	46754587	SO:0001583	missense	29843	exon8			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.727T>G	12.37:g.48468320A>C	ENSP00000004980:p.Ser243Ala	Somatic		Capture	Illumina HiSeq	Phase_I	46754587	NM_014554	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	A	9.255	1.041704	0.19748	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.84	0.222	0.15288	.	0.408516	0.23666	N	0.045767	T	0.05823	0.0152	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38542	-0.9656	10	0.07644	T	0.81	-3.1007	4.9307	0.13916	0.4599:0.3425:0.0:0.1975	.	243;243	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	A	243	ENSP00000004980:S243A;ENSP00000394791:S243A;ENSP00000446681:S243A;ENSP00000450076:S243A;ENSP00000447328:S243A	ENSP00000004980:S243A	S	-	1	0	SENP1	46754587	0.915000	0.31059	0.997000	0.53966	0.992000	0.81027	-0.223000	0.09177	-0.059000	0.13154	0.533000	0.62120	TCT		0.373	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
PFKM	5213	broad.mit.edu	37	12	48526706	48526706	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:48526706G>A	ENST00000312352.7	+	5	332	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PFKM_ENST00000551804.1_Missense_Mutation_p.R98Q|PFKM_ENST00000547587.1_Missense_Mutation_p.R98Q|PFKM_ENST00000340802.6_Missense_Mutation_p.R169Q|PFKM_ENST00000395233.2_Missense_Mutation_p.R98Q|PFKM_ENST00000359794.5_Missense_Mutation_p.R98Q	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	98	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R98Q(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CGAGAAGGACGACTCCGAGCT	0.577																																					p.R169Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	12						.						102.0	85.0	91.0					12																	48526706		2203	4300	6503	46812973	SO:0001583	missense	5213	exon7			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.293G>A	12.37:g.48526706G>A	ENSP00000309438:p.Arg98Gln	Somatic		Capture	Illumina HiSeq	Phase_I	46812973	NM_001166686	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641408	0.96704	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000549941;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	T;T;T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.54	4.54	0.55810	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.959;0.997;0.986	D	0.89364	0.3670	10	0.66056	D	0.02	-7.3059	17.2572	0.87060	0.0:0.0:1.0:0.0	.	98;98;169	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	Q	98;98;131;169;98;98;98;98;98;98;98;98	ENSP00000450369:R98Q;ENSP00000449835:R98Q;ENSP00000446829:R131Q;ENSP00000345771:R169Q;ENSP00000352842:R98Q;ENSP00000448253:R98Q;ENSP00000378656:R98Q;ENSP00000449269:R98Q;ENSP00000448177:R98Q;ENSP00000446805:R98Q;ENSP00000449426:R98Q;ENSP00000309438:R98Q	ENSP00000309438:R98Q	R	+	2	0	PFKM	46812973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.811000	0.96726	0.555000	0.69702	CGA		0.577	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
C12orf54	121273	broad.mit.edu	37	12	48886743	48886743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:48886743C>A	ENST00000548364.1	+	6	264	c.207C>A	c.(205-207)tgC>tgA	p.C69*	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Nonsense_Mutation_p.C69*			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	69								p.C69*(1)		endometrium(1)|large_intestine(4)	5						TGAGCAACTGCTCCATGACAC	0.527																																					p.C69X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C207A	12						.						159.0	131.0	141.0					12																	48886743		2203	4300	6503	47173010	SO:0001587	stop_gained	121273	exon7			BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.207C>A	12.37:g.48886743C>A	ENSP00000447109:p.Cys69*	Somatic		Capture	Illumina HiSeq	Phase_I	47173010	NM_152319	Q6X4S9|Q8N5S2	Nonsense_Mutation	SNP	ENST00000548364.1	37	CCDS8764.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527067	0.64860	.	.	ENSG00000177627	ENST00000314014;ENST00000548364	.	.	.	4.89	0.0194	0.14120	.	0.169560	0.28712	N	0.014385	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	1.3086	7.4485	0.27225	0.0:0.5603:0.0:0.4397	.	.	.	.	X	69	.	ENSP00000316898:C69X	C	+	3	2	C12orf54	47173010	0.400000	0.25295	0.013000	0.15412	0.294000	0.27393	0.121000	0.15667	0.107000	0.17824	0.457000	0.33378	TGC		0.527	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319	
OR8S1	341568	broad.mit.edu	37	12	48919710	48919710	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:48919710C>T	ENST00000310194.1	+	1	296	c.296C>T	c.(295-297)gCt>gTt	p.A99V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGCTGCCTGGCTCAGGTCTTC	0.517																																					p.A99V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C296T	12						.						98.0	95.0	96.0					12																	48919710		2203	4300	6503	47205977	SO:0001583	missense	341568	exon1				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.296C>T	12.37:g.48919710C>T	ENSP00000310632:p.Ala99Val	Somatic		Capture	Illumina HiSeq	Phase_I	47205977	NM_001005203		Missense_Mutation	SNP	ENST00000310194.1	37	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564850	0.27915	.	.	ENSG00000197376	ENST00000310194	T	0.00940	5.52	5.03	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	1.531070	0.04140	N	0.319481	T	0.01627	0.0052	L	0.52823	1.66	0.09310	N	1	B	0.23490	0.086	B	0.26094	0.066	T	0.51068	-0.8752	10	0.30078	T	0.28	-0.2556	8.4211	0.32700	0.0:0.6577:0.0:0.3423	.	99	Q8NH09	OR8S1_HUMAN	V	99	ENSP00000310632:A99V	ENSP00000310632:A99V	A	+	2	0	OR8S1	47205977	0.000000	0.05858	0.688000	0.30117	0.892000	0.51952	-0.431000	0.06965	0.306000	0.22856	0.655000	0.94253	GCT		0.517	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		
DHH	50846	broad.mit.edu	37	12	49488260	49488260	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:49488260G>A	ENST00000266991.2	-	1	342	c.36C>T	c.(34-36)tgC>tgT	p.C12C	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	12					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.C12C(1)		breast(1)|large_intestine(3)|lung(4)	8						GAAGTGCCAAGCAGCACAGGG	0.647																																					p.C12C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	12						.						4.0	4.0	4.0					12																	49488260		1904	3776	5680	47774527	SO:0001819	synonymous_variant	50846	exon1			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.36C>T	12.37:g.49488260G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47774527	NM_021044	Q15794	Silent	SNP	ENST00000266991.2	37	CCDS8779.1																																																																																				0.647	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044	
KCNH3	23416	broad.mit.edu	37	12	49948266	49948266	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:49948266G>A	ENST00000257981.6	+	11	2325	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	689					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)	p.A689T(1)		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						CCCCGAGTTTGCCCCGCGCTT	0.637																																					p.A689T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2065A	12						.						60.0	58.0	58.0					12																	49948266		2203	4300	6503	48234533	SO:0001583	missense	23416	exon11			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.2065G>A	12.37:g.49948266G>A	ENSP00000257981:p.Ala689Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48234533	NM_012284	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914893	0.72983	.	.	ENSG00000135519	ENST00000257981	D	0.97066	-4.23	4.81	4.81	0.61882	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.46758	D	0.000274	D	0.91626	0.7354	N	0.08118	0	0.44531	D	0.997488	P	0.39551	0.678	B	0.34824	0.19	D	0.93140	0.6540	10	0.72032	D	0.01	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	689	Q9ULD8	KCNH3_HUMAN	T	689	ENSP00000257981:A689T	ENSP00000257981:A689T	A	+	1	0	KCNH3	48234533	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.980000	0.56895	2.628000	0.89032	0.563000	0.77884	GCC		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	
BCDIN3D	144233	broad.mit.edu	37	12	50232575	50232575	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:50232575A>C	ENST00000333924.4	-	2	499	c.458T>G	c.(457-459)tTt>tGt	p.F153C	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	153	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)	p.F153C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TGAACGTCCAAATTGGCTTAA	0.438											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F153C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T458G	12						.						90.0	87.0	88.0					12																	50232575		2203	4300	6503	48518842	SO:0001583	missense	144233	exon2				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.458T>G	12.37:g.50232575A>C	ENSP00000335201:p.Phe153Cys	Somatic	968	Capture	Illumina HiSeq	Phase_I	48518842	NM_181708	A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960677	0.53400	.	.	ENSG00000186666	ENST00000333924	T	0.46819	0.86	5.42	2.82	0.32997	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.313056	0.40385	N	0.001117	T	0.50633	0.1627	M	0.68952	2.095	0.80722	D	1	D	0.60575	0.988	P	0.50231	0.635	T	0.49588	-0.8924	10	0.40728	T	0.16	.	8.8669	0.35291	0.7022:0.0:0.0:0.2977	.	153	Q7Z5W3	BN3D2_HUMAN	C	153	ENSP00000335201:F153C	ENSP00000335201:F153C	F	-	2	0	BCDIN3D	48518842	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.700000	0.54786	0.960000	0.38005	0.482000	0.46254	TTT		0.438	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708	
SMARCD1	6602	broad.mit.edu	37	12	50482348	50482348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:50482348C>A	ENST00000394963.4	+	6	1097	c.699C>A	c.(697-699)ttC>ttA	p.F233L	SMARCD1_ENST00000548573.1_Missense_Mutation_p.F31L|SMARCD1_ENST00000381513.4_Missense_Mutation_p.F233L	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.F194L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AGAGGAAGTTCTCTTCCTTTT	0.418																																					p.F233L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C699A	12						.						132.0	121.0	124.0					12																	50482348		2203	4300	6503	48768615	SO:0001583	missense	6602	exon6			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.699C>A	12.37:g.50482348C>A	ENSP00000378414:p.Phe233Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48768615	NM_139071		Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097112|4.097112	0.76870|0.76870	.|.	.|.	ENSG00000066117|ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000548573|ENST00000542914	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	4.77|4.77	-0.202|-0.202	0.13208|0.13208	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78610|0.78610	0.4310|0.4310	M|M	0.92219|0.92219	3.285|3.285	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.999;0.969;0.978|.	D;D;D;P|.	0.87578|.	0.994;0.998;0.95;0.817|.	T|T	0.79895|0.79895	-0.1610|-0.1610	10|6	0.87932|0.87932	D|D	0|0	-13.0948|-13.0948	10.483|10.483	0.44704|0.44704	0.0:0.5972:0.0:0.4028|0.0:0.5972:0.0:0.4028	.|.	233;31;233;233|.	B4DF50;F8VRQ4;Q96GM5-2;Q96GM5|.	.;.;.;SMRD1_HUMAN|.	L|Y	233;233;192;31|10	ENSP00000378414:F233L;ENSP00000370924:F233L;ENSP00000447386:F192L;ENSP00000448627:F31L|.	ENSP00000370924:F233L|ENSP00000440128:S10Y	F|S	+|+	3|2	2|0	SMARCD1|SMARCD1	48768615|48768615	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	1.230000|1.230000	0.32612|0.32612	-0.130000|-0.130000	0.11599|0.11599	-0.291000|-0.291000	0.09656|0.09656	TTC|TCT		0.418	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	
DIP2B	57609	broad.mit.edu	37	12	51125254	51125254	+	Silent	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:51125254T>G	ENST00000301180.5	+	31	3778	c.3744T>G	c.(3742-3744)acT>acG	p.T1248T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1248						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T1248T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAAGGGACACTTTCTGCTCCT	0.483																																					p.T1248T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3744G	12						.						118.0	112.0	114.0					12																	51125254		2203	4300	6503	49411521	SO:0001819	synonymous_variant	57609	exon31			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3744T>G	12.37:g.51125254T>G		Somatic		Capture	Illumina HiSeq	Phase_I	49411521	NM_173602	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.483	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
TMPRSS12	283471	broad.mit.edu	37	12	51281091	51281091	+	Missense_Mutation	SNP	G	G	T	rs147804767		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:51281091G>T	ENST00000398458.3	+	5	874	c.842G>T	c.(841-843)aGa>aTa	p.R281I	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	281	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.R281I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAATATAAAAGATTTTTTGTA	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16478	0.0		0.0	False		,,,				2504	0.0				p.R281I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842T	12						.						89.0	90.0	89.0					12																	51281091		1849	4092	5941	49567358	SO:0001583	missense	283471	exon5			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.842G>T	12.37:g.51281091G>T	ENSP00000381476:p.Arg281Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49567358	NM_182559	B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	12.41	1.928924	0.34002	.	.	ENSG00000186452	ENST00000398458	T	0.58797	0.31	5.27	-1.28	0.09318	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.600314	0.14391	N	0.322522	T	0.50633	0.1627	N	0.25245	0.725	0.09310	N	1	D	0.58970	0.984	P	0.60541	0.876	T	0.49447	-0.8939	10	0.12103	T	0.63	-1.2189	8.9314	0.35672	0.5672:0.0:0.4328:0.0	.	281	Q86WS5	TMPSC_HUMAN	I	281	ENSP00000381476:R281I	ENSP00000381476:R281I	R	+	2	0	TMPRSS12	49567358	0.011000	0.17503	0.001000	0.08648	0.617000	0.37484	-0.011000	0.12721	-0.321000	0.08627	-1.232000	0.01568	AGA		0.408	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559	
KRT6A	3853	broad.mit.edu	37	12	52884913	52884913	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:52884913A>C	ENST00000330722.6	-	3	867	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	267	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.F267V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGTCACAAATTCATTCTCT	0.468																																					p.F267V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T799G	12						.						74.0	69.0	71.0					12																	52884913		2203	4297	6500	51171180	SO:0001583	missense	3853	exon3			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.799T>G	12.37:g.52884913A>C	ENSP00000369317:p.Phe267Val	Somatic		Capture	Illumina HiSeq	Phase_I	51171180	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	a	25.5	4.641029	0.87859	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.86865	-2.18	5.14	5.14	0.70334	Filament (1);	0.000000	0.64402	D	0.000019	D	0.95242	0.8457	H	0.94264	3.515	0.53005	D	0.999961	D	0.89917	1.0	D	0.87578	0.998	D	0.96550	0.9407	10	0.87932	D	0	.	15.2555	0.73582	1.0:0.0:0.0:0.0	.	267	P02538	K2C6A_HUMAN	V	267;223	ENSP00000369317:F267V	ENSP00000369317:F267V	F	-	1	0	KRT6A	51171180	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.139000	0.94554	2.061000	0.61500	0.454000	0.30748	TTT		0.468	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
KRT3	3850	broad.mit.edu	37	12	53186530	53186530	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:53186530C>A	ENST00000417996.2	-	4	1062	c.988G>T	c.(988-990)Gat>Tat	p.D330Y	KRT3_ENST00000309505.3_Missense_Mutation_p.D330Y	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	330	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.D330Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCGATCTCATCTATCAAGGCA	0.468																																					p.D330Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988T	12						.						190.0	194.0	193.0					12																	53186530		2117	4265	6382	51472797	SO:0001583	missense	3850	exon4				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.988G>T	12.37:g.53186530C>A	ENSP00000413479:p.Asp330Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51472797	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094136	0.56075	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90563	-2.69;-2.69	4.39	4.39	0.52855	Filament (1);	0.000000	0.47455	D	0.000237	D	0.96639	0.8903	H	0.97415	4	0.41211	D	0.986447	D	0.89917	1.0	D	0.80764	0.994	D	0.97093	0.9792	10	0.87932	D	0	.	11.0772	0.48038	0.0:0.9134:0.0:0.0866	.	330	P12035	K2C3_HUMAN	Y	330	ENSP00000413479:D330Y;ENSP00000312206:D330Y	ENSP00000312206:D330Y	D	-	1	0	KRT3	51472797	0.976000	0.34144	0.861000	0.33841	0.428000	0.31595	2.517000	0.45529	2.444000	0.82710	0.491000	0.48974	GAT		0.468	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
SP7	121340	broad.mit.edu	37	12	53721936	53721936	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:53721936C>T	ENST00000536324.2	-	3	1573	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E	SP7_ENST00000537210.2_Silent_p.E412E|SP7_ENST00000303846.3_Silent_p.E430E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	430					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CGGCTCAGATCTCCAGCAAGT	0.622											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E430E												.	.	0			c.G1290A	12						.						11.0	13.0	12.0					12																	53721936		1945	4117	6062	52008203	SO:0001819	synonymous_variant	121340	exon2			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.1290G>A	12.37:g.53721936C>T		None	994	Capture	Illumina HiSeq	Phase_I	52008203	NM_152860	B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	CCDS44897.1																																																																																				0.622	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
SMUG1	23583	broad.mit.edu	37	12	54577528	54577528	+	Missense_Mutation	SNP	C	C	T	rs547497060		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:54577528C>T	ENST00000508394.2	-	2	259	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SMUG1_ENST00000514685.1_Missense_Mutation_p.R66H|SMUG1_ENST00000506595.1_Missense_Mutation_p.R66H|SMUG1_ENST00000513838.1_Missense_Mutation_p.R66H|SMUG1_ENST00000243112.5_Missense_Mutation_p.R66H|SMUG1_ENST00000505128.1_Missense_Mutation_p.R66H|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R66H|SMUG1_ENST00000401977.2_Missense_Mutation_p.R66H|SMUG1_ENST00000514196.1_Missense_Mutation_p.R66H	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	66				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)	p.R66H(1)		kidney(1)|large_intestine(4)|lung(1)	6						CACGTAGTTGCGATGTGGCTC	0.572								Base excision repair (BER), DNA glycosylases					C|||	1	0.000199681	0.0	0.0	5008	,	,		20659	0.001		0.0	False		,,,				2504	0.0				p.R66H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	12						.						82.0	71.0	75.0					12																	54577528		2203	4300	6503	52863795	SO:0001583	missense	23583	exon3			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.197G>A	12.37:g.54577528C>T	ENSP00000424191:p.Arg66His	Somatic		Capture	Illumina HiSeq	Phase_I	52863795	NM_014311	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826686	0.32329	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.49	3.6	0.41247	Uracil-DNA glycosylase-like (2);	0.267345	0.38436	N	0.001695	T	0.30978	0.0782	L	0.48642	1.525	0.35460	D	0.796445	B;B;B	0.29037	0.003;0.054;0.231	B;B;B	0.22601	0.001;0.011;0.04	T	0.37776	-0.9691	10	0.46703	T	0.11	.	6.4056	0.21662	0.0:0.718:0.0:0.282	.	66;66;66	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	H	66	ENSP00000421206:R66H;ENSP00000421139:R66H;ENSP00000421894:R66H;ENSP00000338606:R66H;ENSP00000424191:R66H;ENSP00000423629:R66H;ENSP00000243112:R66H;ENSP00000384828:R66H;ENSP00000425974:R66H;ENSP00000423083:R66H;ENSP00000423457:R66H;ENSP00000421790:R66H;ENSP00000427547:R66H;ENSP00000425426:R66H	ENSP00000243112:R66H	R	-	2	0	SMUG1	52863795	0.187000	0.23238	0.876000	0.34364	0.860000	0.49131	0.601000	0.24119	1.251000	0.43983	0.591000	0.81541	CGC		0.572	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311	
ZNF385A	25946	broad.mit.edu	37	12	54769648	54769648	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:54769648G>T	ENST00000338010.5	-	3	291	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K	ZNF385A_ENST00000546970.1_Missense_Mutation_p.Q60K|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.Q80K|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551771.1_Missense_Mutation_p.Q60K|ZNF385A_ENST00000394313.2_Missense_Mutation_p.Q60K|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.Q60K	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	80					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q60K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						AAGCGGATTTGACAGATATTA	0.577																																					p.Q60K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C178A	12						.						83.0	73.0	77.0					12																	54769648		2203	4300	6503	53055915	SO:0001583	missense	25946	exon2			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.238C>A	12.37:g.54769648G>T	ENSP00000338927:p.Gln80Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53055915	NM_015481	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387978	0.82902	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937;ENST00000547210;ENST00000550774	T;T;T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	3.77	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	L	0.50333	1.59	0.51482	D	0.999928	D;D;D;D;D	0.71674	0.989;0.998;0.998;0.997;0.997	D;D;D;D;D	0.67725	0.953;0.937;0.941;0.95;0.95	T	0.05273	-1.0895	10	0.37606	T	0.19	-11.0078	13.5069	0.61489	0.0:0.0:1.0:0.0	.	60;60;60;60;60	Q96PM9-2;F8VSJ1;F8VRY0;Q96PM9;F1T0F1	.;.;.;Z385A_HUMAN;.	K	60;80;60;80;60;60;60;42;60;60	ENSP00000449161:Q60K;ENSP00000293385:Q80K;ENSP00000377849:Q60K;ENSP00000338927:Q80K;ENSP00000446913:Q60K;ENSP00000447162:Q60K;ENSP00000448466:Q60K;ENSP00000448567:Q42K;ENSP00000448264:Q60K;ENSP00000449462:Q60K	ENSP00000338927:Q80K	Q	-	1	0	ZNF385A	53055915	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.192000	0.94947	2.116000	0.64780	0.561000	0.74099	CAA		0.577	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481	
GTSF1	121355	broad.mit.edu	37	12	54865021	54865021	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:54865021A>C	ENST00000552397.1	-	2	908	c.12T>G	c.(10-12)acT>acG	p.T4T	GTSF1_ENST00000552395.1_5'UTR|GTSF1_ENST00000305879.5_Silent_p.T4T|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	4						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.T4T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				ACATACTGTAAGTTTCTTCCA	0.343																																					p.T4T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T12G	12						.						47.0	49.0	48.0					12																	54865021		2203	4300	6503	53151288	SO:0001819	synonymous_variant	121355	exon2			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.12T>G	12.37:g.54865021A>C		Somatic		Capture	Illumina HiSeq	Phase_I	53151288	NM_144594	B3KQ60|Q0VGM4|Q8N778	Silent	SNP	ENST00000552397.1	37	CCDS8881.1																																																																																				0.343	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594	
OR6C1	390321	broad.mit.edu	37	12	55714575	55714575	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:55714575C>T	ENST00000379668.2	+	1	230	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F64F(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCAGAAATTTCTCCATATTAG	0.408																																					p.F64F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	12						.						59.0	59.0	59.0					12																	55714575		2203	4300	6503	54000842	SO:0001819	synonymous_variant	390321	exon1			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.192C>T	12.37:g.55714575C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54000842	NM_001005182	B2RNM0	Silent	SNP	ENST00000379668.2	37	CCDS31818.1																																																																																				0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
OR6C75	390323	broad.mit.edu	37	12	55759672	55759672	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:55759672A>G	ENST00000343399.3	+	1	778	c.778A>G	c.(778-780)Act>Gct	p.T260A		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T260A(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GTACATTAAGACTTCTGCCAG	0.413																																					p.T260A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A778G	12						.						94.0	83.0	87.0					12																	55759672		2203	4300	6503	54045939	SO:0001583	missense	390323	exon1				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.778A>G	12.37:g.55759672A>G	ENSP00000368987:p.Thr260Ala	Somatic		Capture	Illumina HiSeq	Phase_I	54045939	NM_001005497		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	a	13.24	2.179046	0.38511	.	.	ENSG00000187857	ENST00000343399	T	0.00076	8.76	5.22	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.148942	0.30593	N	0.009295	T	0.00178	0.0005	L	0.38838	1.175	0.21020	N	0.99981	B	0.18741	0.03	B	0.29353	0.101	T	0.37596	-0.9699	10	0.87932	D	0	.	14.1476	0.65360	0.2814:0.7185:0.0:0.0	.	260	A6NL08	O6C75_HUMAN	A	260	ENSP00000368987:T260A	ENSP00000368987:T260A	T	+	1	0	OR6C75	54045939	0.002000	0.14202	1.000000	0.80357	0.985000	0.73830	0.879000	0.28146	0.747000	0.32809	-0.237000	0.12165	ACT		0.413	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
OR6C75	390323	broad.mit.edu	37	12	55759820	55759820	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:55759820C>A	ENST00000343399.3	+	1	926	c.926C>A	c.(925-927)tCt>tAt	p.S309Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S309Y(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATGATTTTTTCTTTAAATAAA	0.373																																					p.S309Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926A	12						.						42.0	44.0	43.0					12																	55759820		2203	4300	6503	54046087	SO:0001583	missense	390323	exon1				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.926C>A	12.37:g.55759820C>A	ENSP00000368987:p.Ser309Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54046087	NM_001005497		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	c	0.307	-0.970005	0.02232	.	.	ENSG00000187857	ENST00000343399	T	0.01304	5.03	5.22	1.23	0.21249	.	0.748699	0.11321	N	0.576008	T	0.01730	0.0055	L	0.50333	1.59	0.09310	N	1	B	0.19935	0.04	B	0.26517	0.07	T	0.47058	-0.9146	10	0.27082	T	0.32	.	4.1749	0.10348	0.1519:0.468:0.0:0.3801	.	309	A6NL08	O6C75_HUMAN	Y	309	ENSP00000368987:S309Y	ENSP00000368987:S309Y	S	+	2	0	OR6C75	54046087	0.000000	0.05858	0.009000	0.14445	0.223000	0.24884	-0.569000	0.05902	0.338000	0.23692	0.632000	0.83419	TCT		0.373	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
OR6C65	403282	broad.mit.edu	37	12	55794646	55794646	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:55794646C>A	ENST00000379665.2	+	1	433	c.334C>A	c.(334-336)Ctt>Att	p.L112I		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112I(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AGAATTTTTTCTTCTGGCTGT	0.363																																					p.L112I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334A	12						.						88.0	94.0	92.0					12																	55794646		2203	4300	6503	54080913	SO:0001583	missense	403282	exon1				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.334C>A	12.37:g.55794646C>A	ENSP00000368986:p.Leu112Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54080913	NM_001005518	B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932773	0.52866	.	.	ENSG00000205328	ENST00000379665	T	0.00585	6.39	3.4	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31507	U	0.007535	T	0.01940	0.0061	M	0.74546	2.27	0.09310	N	0.999999	D	0.65815	0.995	D	0.63283	0.913	T	0.27536	-1.0071	10	0.62326	D	0.03	.	9.934	0.41539	0.0:0.8951:0.0:0.1049	.	112	A6NJZ3	O6C65_HUMAN	I	112	ENSP00000368986:L112I	ENSP00000368986:L112I	L	+	1	0	OR6C65	54080913	0.001000	0.12720	0.230000	0.23976	0.894000	0.52154	-0.131000	0.10482	1.909000	0.55274	0.424000	0.28305	CTT		0.363	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		
OR6C2	341416	broad.mit.edu	37	12	55846462	55846462	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:55846462T>C	ENST00000322678.1	+	1	465	c.465T>C	c.(463-465)gtT>gtC	p.V155V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	155					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V155V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGATCATTGTTCCACCACTTA	0.463																																					p.V155V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T465C	12						.						180.0	146.0	157.0					12																	55846462		2203	4300	6503	54132729	SO:0001819	synonymous_variant	341416	exon1			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.465T>C	12.37:g.55846462T>C		Somatic		Capture	Illumina HiSeq	Phase_I	54132729	NM_054105		Silent	SNP	ENST00000322678.1	37	CCDS31824.1																																																																																				0.463	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
ITGA7	3679	broad.mit.edu	37	12	56090083	56090083	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:56090083C>A	ENST00000555728.1	-	14	2031	c.2003G>T	c.(2002-2004)aGc>aTc	p.S668I	ITGA7_ENST00000257880.7_Missense_Mutation_p.S668I|ITGA7_ENST00000553804.1_Missense_Mutation_p.S628I|ITGA7_ENST00000452168.2_Missense_Mutation_p.S531I|ITGA7_ENST00000394230.2_Missense_Mutation_p.S628I|ITGA7_ENST00000394229.2_Missense_Mutation_p.S624I|ITGA7_ENST00000347027.6_Missense_Mutation_p.S618I|ITGA7_ENST00000257879.6_Missense_Mutation_p.S624I			Q13683	ITA7_HUMAN	integrin, alpha 7	668					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.S624I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCGCTGGGTGCTGGGCTGGTG	0.647																																					p.S531I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1592T	12						.						14.0	15.0	15.0					12																	56090083		2198	4294	6492	54376350	SO:0001583	missense	3679	exon13				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2003G>T	12.37:g.56090083C>A	ENSP00000452387:p.Ser668Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54376350	NM_001144997	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.039209	0.75617	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.31	4.4	0.53042	Integrin alpha-2 (1);	0.124970	0.53938	D	0.000044	T	0.57169	0.2035	L	0.50333	1.59	0.40895	D	0.984105	D;D;D;D	0.69078	0.957;0.965;0.957;0.997	P;D;P;D	0.67231	0.852;0.944;0.906;0.95	T	0.56980	-0.7889	10	0.49607	T	0.09	.	9.2165	0.37351	0.0:0.9026:0.0:0.0974	.	531;668;628;687	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	I	628;624;618;531;668;628;624;668	ENSP00000452120:S628I;ENSP00000257879:S624I;ENSP00000343009:S618I;ENSP00000393844:S531I;ENSP00000257880:S668I;ENSP00000377777:S628I;ENSP00000377776:S624I;ENSP00000452387:S668I	ENSP00000257879:S624I	S	-	2	0	ITGA7	54376350	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	1.338000	0.33873	2.660000	0.90430	0.561000	0.74099	AGC		0.647	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
IKZF4	64375	broad.mit.edu	37	12	56417534	56417534	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:56417534C>A	ENST00000262032.5	+	6	534	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	IKZF4_ENST00000547791.1_Intron|IKZF4_ENST00000547167.1_Missense_Mutation_p.S56Y|IKZF4_ENST00000431367.2_Intron|IKZF4_ENST00000548601.1_Intron			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	56					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S56Y(1)		NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATAATGGAATCTTTATTTTGT	0.438																																					p.S56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C167A	12						.						81.0	79.0	79.0					12																	56417534		1849	4088	5937	54703801	SO:0001583	missense	64375	exon2			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.167C>A	12.37:g.56417534C>A	ENSP00000262032:p.Ser56Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54703801	NM_022465	Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059990	0.76074	.	.	ENSG00000123411	ENST00000262032;ENST00000547167	T;T	0.07688	3.17;3.17	5.55	5.55	0.83447	.	.	.	.	.	T	0.07954	0.0199	N	0.08118	0	0.80722	D	1	P	0.46578	0.88	P	0.49361	0.608	T	0.49031	-0.8981	9	0.27785	T	0.31	-16.2146	14.8729	0.70471	0.0:1.0:0.0:0.0	.	56	Q9H2S9	IKZF4_HUMAN	Y	56	ENSP00000262032:S56Y;ENSP00000448419:S56Y	ENSP00000262032:S56Y	S	+	2	0	IKZF4	54703801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.298000	0.51818	2.885000	0.99019	0.655000	0.94253	TCT		0.438	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465	
PAN2	9924	broad.mit.edu	37	12	56718265	56718265	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:56718265G>T	ENST00000425394.2	-	12	2117	c.1741C>A	c.(1741-1743)Ctt>Att	p.L581I	PAN2_ENST00000548043.1_Missense_Mutation_p.L581I|PAN2_ENST00000440411.3_Missense_Mutation_p.L581I|PAN2_ENST00000257931.5_Missense_Mutation_p.L581I	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.L581I(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AATGCCCGAAGAAAATTATTG	0.498																																					p.L581I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1741A	12						.						65.0	67.0	66.0					12																	56718265		2203	4300	6503	55004532	SO:0001583	missense	9924	exon12			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1741C>A	12.37:g.56718265G>T	ENSP00000401721:p.Leu581Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55004532	NM_001166279		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441077	0.63067	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	M	0.71036	2.16	0.58432	D	0.999996	D;D;D	0.69078	0.992;0.997;0.994	D;D;D	0.68192	0.926;0.955;0.956	T	0.00247	-1.1881	10	0.66056	D	0.02	-16.3265	8.3215	0.32132	0.1698:0.0:0.8302:0.0	.	581;581;581	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	581	ENSP00000401721:L581I;ENSP00000388231:L581I;ENSP00000257931:L581I;ENSP00000449861:L581I	ENSP00000257931:L581I	L	-	1	0	PAN2	55004532	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.444000	0.52914	2.581000	0.87130	0.455000	0.32223	CTT		0.498	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	
STAT2	6773	broad.mit.edu	37	12	56737289	56737289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:56737289C>A	ENST00000314128.4	-	24	2463	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Nonsense_Mutation_p.E810*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	814					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E814*(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGCATGATTTCTTCAATCTTT	0.512																																					p.E810X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2428T	12						.						103.0	81.0	88.0					12																	56737289		2203	4300	6503	55023556	SO:0001587	stop_gained	6773	exon24			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2440G>T	12.37:g.56737289C>A	ENSP00000315768:p.Glu814*	Somatic		Capture	Illumina HiSeq	Phase_I	55023556	NM_198332	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Nonsense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	38	7.126559	0.98081	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	.	.	.	4.36	2.5	0.30297	.	0.823201	0.10906	N	0.621134	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.3517	5.5918	0.17305	0.1935:0.7054:0.0:0.1011	.	.	.	.	X	814;810	.	ENSP00000315768:E814X	E	-	1	0	STAT2	55023556	0.014000	0.17966	0.028000	0.17463	0.965000	0.64279	0.672000	0.25187	0.754000	0.32968	0.655000	0.94253	GAA		0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	
STAT2	6773	broad.mit.edu	37	12	56737635	56737635	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:56737635C>A	ENST00000314128.4	-	23	2410	c.2387G>T	c.(2386-2388)aGa>aTa	p.R796I	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.R792I			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	796					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R796I(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTTCAAATGTCTCAGATCACA	0.488																																					p.R792I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2375T	12						.						228.0	199.0	209.0					12																	56737635		2203	4300	6503	55023902	SO:0001583	missense	6773	exon23			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2387G>T	12.37:g.56737635C>A	ENSP00000315768:p.Arg796Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55023902	NM_198332	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399876	0.62177	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	T;T	0.52295	0.67;0.67	4.24	-3.57	0.04612	Signal transducer and activation of transcription 2, C-terminal (1);	0.522360	0.16461	N	0.213401	T	0.26882	0.0658	N	0.24115	0.695	0.20196	N	0.999926	B;B	0.23990	0.078;0.095	B;B	0.29176	0.06;0.099	T	0.15809	-1.0424	10	0.72032	D	0.01	0.0804	3.537	0.07798	0.4124:0.3106:0.0:0.277	.	792;796	G3V2M6;P52630	.;STAT2_HUMAN	I	796;792	ENSP00000315768:R796I;ENSP00000450751:R792I	ENSP00000315768:R796I	R	-	2	0	STAT2	55023902	0.007000	0.16637	0.007000	0.13788	0.971000	0.66376	-1.200000	0.03029	-0.737000	0.04824	0.561000	0.74099	AGA		0.488	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	
ATP5B	506	broad.mit.edu	37	12	57033796	57033796	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:57033796C>T	ENST00000262030.3	-	8	1305	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	ATP5B_ENST00000552919.1_Missense_Mutation_p.D408N|ATP5B_ENST00000550162.1_5'UTR	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	419					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.D419N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGGCAACATCGTAATGCTCA	0.512																																					p.D419N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1255A	12						.						105.0	88.0	94.0					12																	57033796		2203	4300	6503	55320063	SO:0001583	missense	506	exon8			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1255G>A	12.37:g.57033796C>T	ENSP00000262030:p.Asp419Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55320063	NM_001686	A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.942565|3.942565	0.73672|0.73672	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104|ENST00000552959	T;T;T|.	0.76709|.	-1.04;-1.04;-1.04|.	5.77|5.77	5.77|5.77	0.91146|0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);|.	0.135505|.	0.64402|.	D|.	0.000004|.	T|T	0.45677|0.45677	0.1354|0.1354	N|N	0.05259|0.05259	-0.085|-0.085	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.41822|0.41822	-0.9487|-0.9487	10|5	0.02654|.	T|.	1|.	-10.6336|-10.6336	18.7629|18.7629	0.91860|0.91860	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	419|.	P06576|.	ATPB_HUMAN|.	N|Q	419;408;122|355	ENSP00000262030:D419N;ENSP00000450297:D408N;ENSP00000450233:D122N|.	ENSP00000262030:D419N|.	D|R	-|-	1|2	0|0	ATP5B|ATP5B	55320063|55320063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.581000|7.581000	0.82535|0.82535	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.512	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	
MYO1A	4640	broad.mit.edu	37	12	57442030	57442030	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:57442030C>A	ENST00000442789.2	-	3	365	c.78G>T	c.(76-78)aaG>aaT	p.K26N	MYO1A_ENST00000300119.3_Missense_Mutation_p.K26N|MYO1A_ENST00000544473.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	26	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K26N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCTGAAGATTCTTGAGCAGTG	0.542																																					p.K26N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G78T	12						.						83.0	72.0	76.0					12																	57442030		2203	4300	6503	55728297	SO:0001583	missense	4640	exon2			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.78G>T	12.37:g.57442030C>A	ENSP00000393392:p.Lys26Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55728297	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251435	0.22880	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000433964	D;D;D	0.86956	-2.19;-2.19;-2.19	4.76	3.8	0.43715	Myosin head, motor domain (2);	0.317552	0.28977	N	0.013536	T	0.67078	0.2855	N	0.01668	-0.77	0.80722	D	1	B	0.31413	0.322	B	0.31191	0.125	T	0.67917	-0.5546	10	0.22109	T	0.4	.	12.4003	0.55410	0.0:0.8288:0.1711:0.0	.	26	Q9UBC5	MYO1A_HUMAN	N	26	ENSP00000300119:K26N;ENSP00000393392:K26N;ENSP00000400991:K26N	ENSP00000300119:K26N	K	-	3	2	MYO1A	55728297	0.197000	0.23362	1.000000	0.80357	0.582000	0.36321	-0.021000	0.12504	2.368000	0.80403	0.462000	0.41574	AAG		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
INHBC	3626	broad.mit.edu	37	12	57843154	57843154	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:57843154C>A	ENST00000309668.2	+	2	535	c.408C>A	c.(406-408)ttC>ttA	p.F136L		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	136					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.F136L(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GTCTCATGTTCTTTGTGCAGC	0.517																																					p.F136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C408A	12						.						207.0	183.0	191.0					12																	57843154		2203	4300	6503	56129421	SO:0001583	missense	3626	exon2				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.408C>A	12.37:g.57843154C>A	ENSP00000308716:p.Phe136Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56129421	NM_005538	A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466601	0.12402	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	T;T	0.56611	0.45;0.45	4.81	3.92	0.45320	Transforming growth factor-beta, N-terminal (1);	0.126603	0.56097	D	0.000026	T	0.32406	0.0828	N	0.22421	0.69	0.37375	D	0.911788	B	0.10296	0.003	B	0.10450	0.005	T	0.21690	-1.0238	10	0.02654	T	1	-9.3083	11.1651	0.48539	0.0:0.9099:0.0:0.0901	.	136	P55103	INHBC_HUMAN	L	136	ENSP00000449889:F136L;ENSP00000308716:F136L	ENSP00000308716:F136L	F	+	3	2	INHBC	56129421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.771000	0.26633	1.413000	0.46997	0.650000	0.86243	TTC		0.517	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538	
ARHGAP9	64333	broad.mit.edu	37	12	57869179	57869179	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:57869179G>A	ENST00000356411.2	-	12	1642	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R573W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R299W|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R562W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R483W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R483W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	502	Lipid binding.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R502W(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCGGGCCCCCGAACTGCAGGA	0.697																																					p.R299W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C895T	12						.						20.0	20.0	20.0					12																	57869179		2202	4292	6494	56155446	SO:0001583	missense	64333	exon10			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1504C>T	12.37:g.57869179G>A	ENSP00000348782:p.Arg502Trp	Somatic		Capture	Illumina HiSeq	Phase_I	56155446	NM_001080156	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.468181	0.84533	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041	T;T;T;T;T	0.26660	3.07;3.05;1.72;3.03;2.96	4.97	4.97	0.65823	.	0.353337	0.29579	N	0.011754	T	0.41719	0.1171	L	0.50333	1.59	0.38961	D	0.958552	D;D;D;D;P	0.76494	0.999;0.999;0.999;0.994;0.865	P;P;D;P;P	0.64687	0.893;0.849;0.928;0.834;0.586	T	0.31447	-0.9943	10	0.72032	D	0.01	.	12.3158	0.54955	0.0:0.1711:0.8289:0.0	.	562;502;483;483;299	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	483;502;153;483;573;532;299	ENSP00000377380:R483W;ENSP00000348782:R502W;ENSP00000394307:R483W;ENSP00000377386:R573W;ENSP00000397950:R299W	ENSP00000344852:R532W	R	-	1	2	ARHGAP9	56155446	0.827000	0.29292	0.957000	0.39632	0.039000	0.13416	2.470000	0.45119	2.706000	0.92434	0.555000	0.69702	CGG		0.697	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
KIF5A	3798	broad.mit.edu	37	12	57962790	57962790	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:57962790G>T	ENST00000455537.2	+	9	1033	c.759G>T	c.(757-759)aaG>aaT	p.K253N	KIF5A_ENST00000286452.5_Missense_Mutation_p.K164N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	253	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.		K -> N (in SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover). {ECO:0000269|PubMed:18203753, ECO:0000269|PubMed:18245137}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.K253N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACGAGGCAAAGAATATCAACA	0.562																																					p.K253N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G759T	12	GRCh37	CM082909	KIF5A	M		.						178.0	132.0	148.0					12																	57962790		2203	4300	6503	56249057	SO:0001583	missense	3798	exon9			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.759G>T	12.37:g.57962790G>T	ENSP00000408979:p.Lys253Asn	Somatic		Capture	Illumina HiSeq	Phase_I	56249057	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.702019	0.68501	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.75589	-0.95;-0.95	4.23	3.34	0.38264	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85514	0.1199	10	0.66056	D	0.02	.	11.4785	0.50312	0.0904:0.0:0.9096:0.0	.	164;253	B7Z2M7;Q12840	.;KIF5A_HUMAN	N	253;164	ENSP00000408979:K253N;ENSP00000286452:K164N	ENSP00000286452:K164N	K	+	3	2	KIF5A	56249057	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.563000	0.36364	1.137000	0.42214	0.555000	0.69702	AAG		0.562	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
PIP4K2C	79837	broad.mit.edu	37	12	57992945	57992945	+	Missense_Mutation	SNP	G	G	A	rs140234878		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:57992945G>A	ENST00000354947.5	+	5	627	c.611G>A	c.(610-612)cGc>cAc	p.R204H	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R156H|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R204H|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R186H			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	204	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.R204H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTTGTGATGCGCAATATGTTT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		22546	0.0		0.001	False		,,,				2504	0.0				p.R204H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G611A	12						.						162.0	126.0	138.0					12																	57992945		2203	4300	6503	56279212	SO:0001583	missense	79837	exon5			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.611G>A	12.37:g.57992945G>A	ENSP00000347032:p.Arg204His	Somatic		Capture	Illumina HiSeq	Phase_I	56279212	NM_001146258	B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	CCDS8946.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	32|32	5.168511|5.168511	0.94768|0.94768	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000436866;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.39|5.39	4.48|4.48	0.54585|0.54585	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.83275	.|0.985;0.978;0.996	T|T	0.71968|0.71968	-0.4432|-0.4432	5|10	.|0.72032	.|D	.|0.01	-11.6468|-11.6468	14.547|14.547	0.68038|0.68038	0.0:0.0:0.8521:0.1479|0.0:0.0:0.8521:0.1479	.|.	.|156;186;204	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	T|H	25|156;204;204;186;204	.|ENSP00000412035:R156H;ENSP00000439878:R204H;ENSP00000447390:R186H;ENSP00000347032:R204H	.|ENSP00000347032:R204H	A|R	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56279212|56279212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.386000|9.386000	0.97228|0.97228	1.382000|1.382000	0.46385|0.46385	0.455000|0.455000	0.32223|0.32223	GCA|CGC		0.512	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
ARHGEF25	115557	broad.mit.edu	37	12	58006810	58006810	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:58006810C>T	ENST00000286494.4	+	2	655	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.G104G|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	65						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G65G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						tcagctctggccccTGTTCCC	0.607																																					p.G104G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	12						.						35.0	39.0	38.0					12																	58006810		2203	4300	6503	56293077	SO:0001819	synonymous_variant	115557	exon3				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.195C>T	12.37:g.58006810C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56293077	NM_001111270	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	CCDS8947.1																																																																																				0.607	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	
AGAP2	116986	broad.mit.edu	37	12	58126657	58126657	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:58126657C>T	ENST00000547588.1	-	6	1654	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	AGAP2_ENST00000257897.3_Missense_Mutation_p.G216E	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	552	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.G216E(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CACATTGAGCCCATAGGTTGC	0.567																																					p.G216E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G647A	12						.						297.0	281.0	286.0					12																	58126657		2203	4300	6503	56412924	SO:0001583	missense	116986	exon6			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1655G>A	12.37:g.58126657C>T	ENSP00000449241:p.Gly552Glu	Somatic		Capture	Illumina HiSeq	Phase_I	56412924	NM_014770	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.042711|5.042711	0.93685|0.93685	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.61859|.	0.07;0.07|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75664|.	0.3880|.	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|.	0.75385|.	-0.3336|.	10|.	0.87932|.	D|.	0|.	.|.	17.3795|17.3795	0.87401|0.87401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	216;552;552|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	E|X	216;552|415	ENSP00000257897:G216E;ENSP00000449241:G552E|.	ENSP00000257897:G216E|.	G|W	-|-	2|3	0|0	AGAP2|AGAP2	56412924|56412924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.451000|7.451000	0.80668|0.80668	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
CDK4	1019	broad.mit.edu	37	12	58144812	58144812	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:58144812C>T	ENST00000257904.6	-	4	781	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	CDK4_ENST00000551888.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R19Q|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R139Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCAGATCTCGGTGAACGAT	0.488			Mis			melanoma			Hereditary Melanoma																												p.R139Q		yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	12						.						93.0	88.0	89.0					12																	58144812		2203	4300	6503	56431079	SO:0001583	missense	1019	exon4	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.416G>A	12.37:g.58144812C>T	ENSP00000257904:p.Arg139Gln	Somatic		Capture	Illumina HiSeq	Phase_I	56431079	NM_000075	B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187419	0.94923	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;1.21;1.21	4.56	4.56	0.56223	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	0.64402	D	0.000001	D	0.82692	0.5092	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86713	0.1937	10	0.87932	D	0	.	16.6381	0.85064	0.0:1.0:0.0:0.0	.	139	P11802	CDK4_HUMAN	Q	139;19;65;65;65;139;139	ENSP00000257904:R139Q;ENSP00000439076:R19Q;ENSP00000447779:R65Q;ENSP00000447274:R65Q;ENSP00000449391:R65Q;ENSP00000449179:R139Q;ENSP00000448963:R139Q	ENSP00000257904:R139Q	R	-	2	0	CDK4	56431079	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.429000	0.80309	2.533000	0.85409	0.655000	0.94253	CGA		0.488	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075	
METTL21B	25895	broad.mit.edu	37	12	58164920	58164920	+	5'Flank	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:58164920T>G	ENST00000300209.8	+	0	0				METTL1_ENST00000548681.1_5'UTR|METTL21B_ENST00000548256.1_5'Flank|RP11-571M6.15_ENST00000471530.1_5'Flank|METTL21B_ENST00000333012.5_5'Flank|METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000257848.7_Missense_Mutation_p.Q77H|METTL1_ENST00000324871.7_Missense_Mutation_p.Q77H	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)	p.Q77H(1)		endometrium(1)|lung(1)	2						CAAACTCCACTTGGGCCTGAG	0.512																																					p.Q77H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A231C	12						.						134.0	104.0	114.0					12																	58164920		2203	4300	6503	56451187	SO:0001631	upstream_gene_variant	4234	exon2			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58164920T>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	56451187	NM_005371	Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466418	0.43839	.	.	ENSG00000037897	ENST00000324871;ENST00000257848	T	0.41758	0.99	5.3	4.08	0.47627	.	0.165381	0.46442	D	0.000281	T	0.38026	0.1025	L	0.49571	1.57	0.58432	D	0.999999	B;B	0.30193	0.003;0.272	B;B	0.38106	0.012;0.265	T	0.31641	-0.9936	10	0.41790	T	0.15	-21.385	5.8978	0.18949	0.0:0.0864:0.1689:0.7447	.	77;77	Q9UBP6;Q53FS9	TRMB_HUMAN;.	H	77	ENSP00000257848:Q77H	ENSP00000257848:Q77H	Q	-	3	2	METTL1	56451187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.080000	0.30779	2.018000	0.59344	0.533000	0.62120	CAA		0.512	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	
LRIG3	121227	broad.mit.edu	37	12	59282150	59282150	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:59282150C>T	ENST00000320743.3	-	7	1194	c.908G>A	c.(907-909)aGc>aAc	p.S303N	LRIG3_ENST00000379141.4_Missense_Mutation_p.S243N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	303					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S303N(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GGCATCAGGGCTGATCCTGTT	0.498			T	ROS1	NSCLC																																p.S303N			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908A	12						.						113.0	102.0	106.0					12																	59282150		2203	4300	6503	57568417	SO:0001583	missense	121227	exon7			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.908G>A	12.37:g.59282150C>T	ENSP00000326759:p.Ser303Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57568417	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357538	0.24598	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.25912	1.77;1.77	5.76	5.76	0.90799	.	0.000000	0.44285	D	0.000471	T	0.19446	0.0467	L	0.35723	1.085	0.30127	N	0.805153	B;B	0.13145	0.001;0.007	B;B	0.16289	0.011;0.015	T	0.07028	-1.0794	9	.	.	.	.	10.1086	0.42548	0.0:0.7905:0.138:0.0715	.	243;303	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	243;303	ENSP00000368436:S243N;ENSP00000326759:S303N	.	S	-	2	0	LRIG3	57568417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	2.880000	0.98712	0.650000	0.86243	AGC		0.498	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
FAM19A2	338811	broad.mit.edu	37	12	62147450	62147450	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:62147450G>A	ENST00000416284.3	-	4	1921	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R113W|FAM19A2_ENST00000550003.1_Missense_Mutation_p.R16W	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	113						cytoplasm (GO:0005737)		p.R113W(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CATCCTTTCCGATCCGGAAGA	0.408																																					p.R113W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C337T	12						.						129.0	115.0	120.0					12																	62147450		2203	4300	6503	60433717	SO:0001583	missense	338811	exon4			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.337C>T	12.37:g.62147450G>A	ENSP00000393987:p.Arg113Trp	Somatic		Capture	Illumina HiSeq	Phase_I	60433717	NM_178539	B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171004	0.57584	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003	.	.	.	4.64	3.74	0.42951	.	0.090708	0.47852	D	0.000212	T	0.45054	0.1323	L	0.27053	0.805	0.80722	D	1	D	0.56287	0.975	P	0.47376	0.545	T	0.29366	-1.0014	8	.	.	.	.	14.0391	0.64663	0.0:0.0:0.8476:0.1524	.	113	Q8N3H0	F19A2_HUMAN	W	113;113;16	.	.	R	-	1	2	FAM19A2	60433717	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	6.525000	0.73795	0.947000	0.37659	0.557000	0.71058	CGG		0.408	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539	
MON2	23041	broad.mit.edu	37	12	62949801	62949801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:62949801C>T	ENST00000393632.2	+	25	3629	c.3238C>T	c.(3238-3240)Cga>Tga	p.R1080*	MON2_ENST00000546600.1_Nonsense_Mutation_p.R1080*|MON2_ENST00000393630.3_Nonsense_Mutation_p.R1081*|MON2_ENST00000393629.2_Nonsense_Mutation_p.R1080*|MON2_ENST00000280379.6_Nonsense_Mutation_p.R1081*|MON2_ENST00000552738.1_Nonsense_Mutation_p.R1057*	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1080					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R1080*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGACAGAGTTCGAGAGTCCTC	0.388																																					p.R1080X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3238T	12						.						59.0	55.0	56.0					12																	62949801		2203	4300	6503	61236068	SO:0001587	stop_gained	23041	exon25				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3238C>T	12.37:g.62949801C>T	ENSP00000377252:p.Arg1080*	Somatic		Capture	Illumina HiSeq	Phase_I	61236068	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Nonsense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	44	10.851642	0.99477	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	.	.	.	4.62	3.72	0.42706	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1573	12.2549	0.54619	0.3089:0.6911:0.0:0.0	.	.	.	.	X	1080;1081;1081;1080;1057;1080	.	.	R	+	1	2	MON2	61236068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.487000	0.35540	1.067000	0.40740	0.456000	0.33151	CGA		0.388	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
DPY19L2	283417	broad.mit.edu	37	12	63974529	63974529	+	Missense_Mutation	SNP	G	G	T	rs369446846		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:63974529G>T	ENST00000324472.4	-	19	1996	c.1813C>A	c.(1813-1815)Ctc>Atc	p.L605I	DPY19L2_ENST00000413230.2_Missense_Mutation_p.L52I	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	605					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L605I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGATTACGGAGGTTTGCATAA	0.378																																					p.L605I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1813A	12						.						77.0	73.0	75.0					12																	63974529		2203	4300	6503	62260796	SO:0001583	missense	283417	exon19				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1813C>A	12.37:g.63974529G>T	ENSP00000315988:p.Leu605Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62260796	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125894	0.20959	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.56103	0.48;0.48	3.49	3.49	0.39957	.	0.068266	0.64402	N	0.000011	T	0.52885	0.1762	L	0.54863	1.705	0.47659	D	0.999483	P	0.39737	0.685	P	0.45406	0.479	T	0.53019	-0.8497	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	605	Q6NUT2	D19L2_HUMAN	I	605;52	ENSP00000315988:L605I;ENSP00000439794:L52I	.	L	-	1	0	DPY19L2	62260796	1.000000	0.71417	0.954000	0.39281	0.539000	0.34962	8.128000	0.89595	1.920000	0.55613	0.305000	0.20034	CTC		0.378	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
TMEM5	10329	broad.mit.edu	37	12	64196001	64196001	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:64196001T>G	ENST00000261234.6	+	4	717	c.559T>G	c.(559-561)Tta>Gta	p.L187V	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	187						integral component of plasma membrane (GO:0005887)		p.L187V(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGCACAAAATTTAGTGCAAAT	0.363																																					p.L187V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T559G	12						.						80.0	78.0	79.0					12																	64196001		2203	4300	6503	62482268	SO:0001583	missense	10329	exon4			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.559T>G	12.37:g.64196001T>G	ENSP00000261234:p.Leu187Val	Somatic		Capture	Illumina HiSeq	Phase_I	62482268	NM_014254	A8K017|Q6PKD6	De_novo_Start_OutOfFrame	SNP	ENST00000261234.6	37	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403974	0.42613	.	.	ENSG00000118600	ENST00000261234	T	0.32515	1.45	4.93	1.26	0.21427	.	0.068149	0.64402	D	0.000013	T	0.46927	0.1418	M	0.77103	2.36	0.80722	D	1	D	0.65815	0.995	P	0.59643	0.861	T	0.39563	-0.9608	9	.	.	.	-20.1469	9.511	0.39076	0.0:0.3694:0.0:0.6306	.	187	Q9Y2B1	TMEM5_HUMAN	V	187	ENSP00000261234:L187V	.	L	+	1	2	TMEM5	62482268	0.787000	0.28750	0.999000	0.59377	0.520000	0.34377	1.218000	0.32467	0.109000	0.17891	-0.353000	0.07706	TTA		0.363	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254	
SRGAP1	57522	broad.mit.edu	37	12	64536267	64536267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:64536267C>T	ENST00000355086.3	+	22	3597	c.3073C>T	c.(3073-3075)Cga>Tga	p.R1025*	SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.R962*|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.R1002*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1025					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R1025*(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCTCAGATTCGACGTAGCAC	0.562																																					p.R1025X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3073T	12						.						129.0	105.0	113.0					12																	64536267		2203	4300	6503	62822534	SO:0001587	stop_gained	57522	exon22			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3073C>T	12.37:g.64536267C>T	ENSP00000347198:p.Arg1025*	Somatic		Capture	Illumina HiSeq	Phase_I	62822534	NM_020762	Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	49	15.748010	0.99844	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	.	.	.	6.04	6.04	0.98038	.	0.000000	0.31949	U	0.006805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1002;962	.	.	R	+	1	2	SRGAP1	62822534	0.999000	0.42202	0.984000	0.44739	0.050000	0.14768	7.539000	0.82063	2.873000	0.98535	0.563000	0.77884	CGA		0.562	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
C12orf56	115749	broad.mit.edu	37	12	64746708	64746708	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:64746708A>G	ENST00000543942.2	-	2	1007	c.381T>C	c.(379-381)ttT>ttC	p.F127F	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.F127F|snoU13_ENST00000459220.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	127								p.F127F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GATGAAATGGAAATAGGAATT	0.323																																					p.F127F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T381C	12						.						102.0	98.0	99.0					12																	64746708		1829	4075	5904	63032975	SO:0001819	synonymous_variant	115749	exon2				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.381T>C	12.37:g.64746708A>G		Somatic		Capture	Illumina HiSeq	Phase_I	63032975	NM_001170633		Silent	SNP	ENST00000543942.2	37																																																																																					0.323	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676	
TMBIM4	51643	broad.mit.edu	37	12	66563648	66563648	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:66563648C>T	ENST00000358230.3	-	1	204	c.84G>A	c.(82-84)gtG>gtA	p.V28V	TMBIM4_ENST00000535812.1_5'UTR|TMBIM4_ENST00000398033.4_Silent_p.V28V|TMBIM4_ENST00000286424.7_Silent_p.V28V|TMBIM4_ENST00000539652.1_Silent_p.V28V|TMBIM4_ENST00000544599.1_5'Flank|TMBIM4_ENST00000542724.1_Missense_Mutation_p.C10Y|TMBIM4_ENST00000556010.1_Silent_p.V28V	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	28					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)		p.V28V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TTCGGATGTGCACGGTGGCGG	0.647											OREG0021974	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V28V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	12						.						15.0	24.0	21.0					12																	66563648		1875	3919	5794	64849915	SO:0001819	synonymous_variant	51643	exon1			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.84G>A	12.37:g.66563648C>T		Somatic	1092	Capture	Illumina HiSeq	Phase_I	64849915	NM_016056	Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688874	0.29962	.	.	ENSG00000155957	ENST00000542724	T	0.45668	0.89	4.61	1.42	0.22433	.	.	.	.	.	T	0.21921	0.0528	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07233	-1.0783	7	.	.	.	-4.5432	3.1143	0.06369	0.1671:0.4099:0.326:0.097	.	10	G3V1M2	.	Y	10	ENSP00000441291:C10Y	.	C	-	2	0	TMBIM4	64849915	0.994000	0.37717	1.000000	0.80357	0.913000	0.54294	0.016000	0.13377	0.595000	0.29777	0.563000	0.77884	TGC		0.647	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
DYRK2	8445	broad.mit.edu	37	12	68051773	68051773	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:68051773C>T	ENST00000344096.3	+	3	1499	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.S289S	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.S362S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AGGGTAGAAGCGGTATTAAAG	0.453																																					p.S289S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	12						.						115.0	114.0	114.0					12																	68051773		2203	4300	6503	66338040	SO:0001819	synonymous_variant	8445	exon2			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1086C>T	12.37:g.68051773C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66338040	NM_003583	B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	CCDS8978.1																																																																																				0.453	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1		
IFNG	3458	broad.mit.edu	37	12	68553291	68553291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:68553291C>A	ENST00000229135.3	-	1	236	c.105G>T	c.(103-105)aaG>aaT	p.K35N	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	35					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)	p.K35N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	CAAAATATTTCTTAAGGTTTT	0.363																																					p.K35N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G105T	12						.						41.0	40.0	40.0					12																	68553291		2203	4298	6501	66839558	SO:0001583	missense	3458	exon1				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.105G>T	12.37:g.68553291C>A	ENSP00000229135:p.Lys35Asn	Somatic		Capture	Illumina HiSeq	Phase_I	66839558	NM_000619	B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521552	0.44866	.	.	ENSG00000111537	ENST00000229135	T	0.56941	0.43	5.12	1.21	0.21127	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.263407	0.36167	N	0.002759	T	0.62441	0.2428	M	0.77486	2.375	0.09310	N	1	D	0.58268	0.982	P	0.60473	0.875	T	0.53279	-0.8461	9	.	.	.	-24.0246	4.6526	0.12603	0.1538:0.6:0.0:0.2461	.	35	P01579	IFNG_HUMAN	N	35	ENSP00000229135:K35N	.	K	-	3	2	IFNG	66839558	0.222000	0.23652	0.004000	0.12327	0.098000	0.18820	0.631000	0.24568	0.109000	0.17891	0.491000	0.48974	AAG		0.363	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1		
IL22	50616	broad.mit.edu	37	12	68646579	68646579	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:68646579G>A	ENST00000538666.1	-	3	287	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	IL22_ENST00000328087.4_Missense_Mutation_p.R73C			Q9GZX6	IL22_HUMAN	interleukin 22	73					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)	p.R73C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CCAATGAGACGAACGTCTGTG	0.463																																					p.R73C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C217T	12						.						109.0	101.0	103.0					12																	68646579		2203	4300	6503	66932846	SO:0001583	missense	50616	exon2			AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.217C>T	12.37:g.68646579G>A	ENSP00000442424:p.Arg73Cys	Somatic		Capture	Illumina HiSeq	Phase_I	66932846	NM_020525		Missense_Mutation	SNP	ENST00000538666.1	37	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	g	15.53	2.859638	0.51376	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.58652	0.32;0.32	5.13	2.05	0.26809	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.191237	0.35349	N	0.003273	T	0.63686	0.2532	M	0.75264	2.295	0.40603	D	0.9816	D	0.76494	0.999	P	0.55713	0.782	T	0.63703	-0.6577	9	.	.	.	-4.893	6.0661	0.19864	0.0894:0.0:0.4998:0.4107	.	73	Q9GZX6	IL22_HUMAN	C	73	ENSP00000442424:R73C;ENSP00000329384:R73C	.	R	-	1	0	IL22	66932846	0.989000	0.36119	0.659000	0.29680	0.350000	0.29205	1.135000	0.31454	0.798000	0.33994	0.558000	0.71614	CGT		0.463	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525	
MDM1	56890	broad.mit.edu	37	12	68689055	68689055	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:68689055C>A	ENST00000303145.7	-	14	2210	c.2124G>T	c.(2122-2124)gaG>gaT	p.E708D	MDM1_ENST00000540418.1_Missense_Mutation_p.E428D|MDM1_ENST00000411698.2_Missense_Mutation_p.E673D	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	708					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.E708D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCCAGAAATTCTCCTTCCTTT	0.393																																					p.E708D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2124T	12						.						95.0	99.0	98.0					12																	68689055		2203	4300	6503	66975322	SO:0001583	missense	56890	exon14			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.2124G>T	12.37:g.68689055C>A	ENSP00000302537:p.Glu708Asp	Somatic		Capture	Illumina HiSeq	Phase_I	66975322	NM_017440	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030538	0.19512	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000539972;ENST00000411698	T;T;T	0.26373	1.74;2.11;2.11	5.57	2.64	0.31445	.	0.165151	0.51477	N	0.000090	T	0.42877	0.1222	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.99;0.996	T	0.23119	-1.0197	9	.	.	.	-19.4779	5.4149	0.16368	0.2995:0.5571:0.0:0.1434	.	673;708	E7EPQ3;Q8TC05	.;MDM1_HUMAN	D	428;708;115;673	ENSP00000443815:E428D;ENSP00000302537:E708D;ENSP00000391006:E673D	.	E	-	3	2	MDM1	66975322	0.998000	0.40836	0.999000	0.59377	0.421000	0.31385	0.446000	0.21694	0.781000	0.33589	0.563000	0.77884	GAG		0.393	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
NUP107	57122	broad.mit.edu	37	12	69103822	69103822	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:69103822A>G	ENST00000229179.4	+	10	1171	c.839A>G	c.(838-840)gAa>gGa	p.E280G	NUP107_ENST00000378905.2_Missense_Mutation_p.E129G|NUP107_ENST00000539906.1_Missense_Mutation_p.E251G	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	280					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.E280G(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCAAAGATGAAATTGGAGAA	0.274																																					p.E280G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A839G	12						.						83.0	88.0	86.0					12																	69103822		2203	4299	6502	67390089	SO:0001583	missense	57122	exon10			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.839A>G	12.37:g.69103822A>G	ENSP00000229179:p.Glu280Gly	Somatic		Capture	Illumina HiSeq	Phase_I	67390089	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416619	0.83449	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.22	5.22	0.72569	.	0.211270	0.48767	D	0.000175	T	0.60274	0.2256	L	0.59436	1.845	0.58432	D	0.999998	P;B;P	0.43287	0.772;0.007;0.802	B;B;P	0.45577	0.446;0.016;0.486	T	0.60525	-0.7246	8	.	.	.	-18.5863	15.0759	0.72077	1.0:0.0:0.0:0.0	.	251;129;280	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	G	280;129;251	.	.	E	+	2	0	NUP107	67390089	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	6.719000	0.74718	2.102000	0.63906	0.455000	0.32223	GAA		0.274	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
NUP107	57122	broad.mit.edu	37	12	69127372	69127372	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:69127372T>G	ENST00000229179.4	+	24	2574	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	NUP107_ENST00000378905.2_Missense_Mutation_p.L509V|NUP107_ENST00000401003.3_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.L719V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	748					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.L748V(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CCGAGAACATTTGTGCATCAG	0.393																																					p.L748V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2242G	12						.						129.0	122.0	124.0					12																	69127372		2203	4300	6503	67413639	SO:0001583	missense	57122	exon24			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2242T>G	12.37:g.69127372T>G	ENSP00000229179:p.Leu748Val	Somatic		Capture	Illumina HiSeq	Phase_I	67413639	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066105	0.36470	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.74	0.771	0.18504	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.83384	2.64	0.22762	N	0.998763	P;D;P	0.60575	0.892;0.988;0.749	P;D;P	0.70935	0.736;0.971;0.558	T	0.57831	-0.7743	8	.	.	.	-13.4607	9.7925	0.40715	0.0:0.2548:0.0:0.7452	.	719;509;748	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	V	748;509;719	.	.	L	+	1	2	NUP107	67413639	1.000000	0.71417	0.910000	0.35882	0.017000	0.09413	2.955000	0.49121	-0.033000	0.13736	-0.899000	0.02877	TTG		0.393	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
NUP107	57122	broad.mit.edu	37	12	69135678	69135678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:69135678C>T	ENST00000229179.4	+	27	2920	c.2588C>T	c.(2587-2589)aCg>aTg	p.T863M	NUP107_ENST00000378905.2_Missense_Mutation_p.T624M|NUP107_ENST00000539906.1_Missense_Mutation_p.T834M	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	863					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCTTCATACGATATTGCAC	0.428																																					p.T863M												.	.	0			c.C2588T	12						.						222.0	199.0	207.0					12																	69135678		2203	4300	6503	67421945	SO:0001583	missense	57122	exon27			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2588C>T	12.37:g.69135678C>T	ENSP00000229179:p.Thr863Met	None		Capture	Illumina HiSeq	Phase_I	67421945	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787771	0.49997	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.4	5.4	0.78164	.	0.138322	0.64402	D	0.000005	T	0.66761	0.2822	M	0.70275	2.135	0.26494	N	0.974885	D;D;D	0.89917	0.99;1.0;0.999	P;P;P	0.61658	0.836;0.892;0.753	T	0.61277	-0.7095	8	.	.	.	-1.9342	19.5664	0.95395	0.0:1.0:0.0:0.0	.	834;624;863	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	M	863;624;834	.	.	T	+	2	0	NUP107	67421945	1.000000	0.71417	0.758000	0.31321	0.007000	0.05969	5.156000	0.64905	2.723000	0.93209	0.655000	0.94253	ACG		0.428	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
BEST3	144453	broad.mit.edu	37	12	70070720	70070720	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:70070720G>T	ENST00000330891.5	-	7	1069	c.843C>A	c.(841-843)ttC>ttA	p.F281L	BEST3_ENST00000553096.1_Missense_Mutation_p.F175L|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.F281L|BEST3_ENST00000476098.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	281					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.F281L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATAGAAGAAGAATTGTAGGA	0.478																																					p.F281L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C843A	12						.						125.0	119.0	121.0					12																	70070720		1934	4130	6064	68356987	SO:0001583	missense	144453	exon7			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.843C>A	12.37:g.70070720G>T	ENSP00000332413:p.Phe281Leu	Somatic		Capture	Illumina HiSeq	Phase_I	68356987	NM_032735	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367332	0.82463	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096	D;D;D	0.98901	-5.22;-5.22;-5.22	5.47	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	M	0.92691	3.335	0.80722	D	1	D;D	0.61080	0.989;0.969	D;P	0.73380	0.98;0.828	D	0.99667	1.0995	10	0.66056	D	0.02	-27.522	9.1354	0.36870	0.2196:0.0:0.7804:0.0	.	281;281	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	L	281;281;175	ENSP00000329064:F281L;ENSP00000332413:F281L;ENSP00000449548:F175L	ENSP00000332413:F281L	F	-	3	2	BEST3	68356987	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.944000	0.63561	1.443000	0.47586	0.655000	0.94253	TTC		0.478	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439	
KCNMB4	27345	broad.mit.edu	37	12	70824427	70824427	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:70824427C>A	ENST00000258111.4	+	3	1086	c.627C>A	c.(625-627)ttC>ttA	p.F209L		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	209					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)	p.F209L(2)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	AGCGCAAGTTCTCTTAAAGGG	0.557																																					p.F209L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C627A	12						.						66.0	58.0	61.0					12																	70824427		2203	4300	6503	69110694	SO:0001583	missense	27345	exon3			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.627C>A	12.37:g.70824427C>A	ENSP00000258111:p.Phe209Leu	Somatic		Capture	Illumina HiSeq	Phase_I	69110694	NM_014505	Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096601	0.56075	.	.	ENSG00000135643	ENST00000258111	T	0.11169	2.8	6.06	6.06	0.98353	.	0.347490	0.30528	N	0.009429	T	0.05640	0.0148	N	0.08118	0	0.41397	D	0.987653	B	0.17038	0.02	B	0.17433	0.018	T	0.44267	-0.9339	10	0.11794	T	0.64	-28.0105	11.7861	0.52043	0.0:0.8653:0.0:0.1347	.	209	Q86W47	KCMB4_HUMAN	L	209	ENSP00000258111:F209L	ENSP00000258111:F209L	F	+	3	2	KCNMB4	69110694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.250000	0.32850	2.882000	0.98803	0.655000	0.94253	TTC		0.557	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505	
TBC1D15	64786	broad.mit.edu	37	12	72288124	72288124	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:72288124G>T	ENST00000550746.1	+	7	741	c.677G>T	c.(676-678)aGa>aTa	p.R226I	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000485960.2_Intron|TBC1D15_ENST00000319106.8_Intron	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	226					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R226I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTAGACAGAAGAAAGCTGTTG	0.373																																					p.R226I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677T	12						.						152.0	140.0	144.0					12																	72288124		2203	4300	6503	70574391	SO:0001583	missense	64786	exon7			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.677G>T	12.37:g.72288124G>T	ENSP00000448182:p.Arg226Ile	Somatic		Capture	Illumina HiSeq	Phase_I	70574391	NM_022771	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564444	0.45694	.	.	ENSG00000121749	ENST00000550746	T	0.05649	3.41	5.35	5.35	0.76521	.	0.381478	0.24130	N	0.041275	T	0.04998	0.0134	N	0.08118	0	0.80722	D	1	P	0.44578	0.838	P	0.44990	0.466	T	0.54337	-0.8309	10	0.36615	T	0.2	-2.0097	11.718	0.51666	0.0847:0.0:0.9153:0.0	.	226	Q8TC07	TBC15_HUMAN	I	226	ENSP00000448182:R226I	ENSP00000448182:R226I	R	+	2	0	TBC1D15	70574391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.506000	0.84524	0.591000	0.81541	AGA		0.373	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	
TBC1D15	64786	broad.mit.edu	37	12	72291686	72291686	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:72291686G>T	ENST00000550746.1	+	11	1263	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	TBC1D15_ENST00000393309.3_Missense_Mutation_p.R154I|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R383I|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R391I	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	400	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R400I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAGAGAAAAGAAATTCGAGG	0.323																																					p.R391I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1172T	12						.						80.0	84.0	82.0					12																	72291686		2203	4296	6499	70577953	SO:0001583	missense	64786	exon11			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1199G>T	12.37:g.72291686G>T	ENSP00000448182:p.Arg400Ile	Somatic		Capture	Illumina HiSeq	Phase_I	70577953	NM_001146214	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314884	0.95655	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.58	5.58	0.84498	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	M	0.79805	2.47	0.80722	D	1	P;P;P	0.51240	0.943;0.929;0.773	P;P;P	0.58820	0.846;0.761;0.603	T	0.07046	-1.0793	10	0.87932	D	0	-12.517	19.5625	0.95378	0.0:0.0:1.0:0.0	.	391;383;400	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	I	400;391;383;154	ENSP00000448182:R400I;ENSP00000318262:R391I;ENSP00000420678:R383I;ENSP00000376986:R154I	ENSP00000318262:R391I	R	+	2	0	TBC1D15	70577953	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.517000	0.98020	2.627000	0.88993	0.467000	0.42956	AGA		0.323	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	
TRHDE	29953	broad.mit.edu	37	12	72771778	72771778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:72771778C>T	ENST00000261180.4	+	3	1153	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R353*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						taattaGGTACGATTATATGC	0.308																																					p.R353X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1057T	12						.						30.0	31.0	31.0					12																	72771778		2203	4293	6496	71058045	SO:0001587	stop_gained	29953	exon3			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1057C>T	12.37:g.72771778C>T	ENSP00000261180:p.Arg353*	Somatic		Capture	Illumina HiSeq	Phase_I	71058045	NM_013381	A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	38	6.833730	0.97873	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3917	0.66983	0.1477:0.8523:0.0:0.0	.	.	.	.	X	353	.	ENSP00000261180:R353X	R	+	1	2	TRHDE	71058045	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	4.342000	0.59341	2.645000	0.89757	0.585000	0.79938	CGA		0.308	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
TRHDE	29953	broad.mit.edu	37	12	72969118	72969118	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:72969118G>T	ENST00000261180.4	+	11	2176	c.2080G>T	c.(2080-2082)Gac>Tac	p.D694Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	694					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D694Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTCAACTATGACCTAAGGAA	0.363																																					p.D694Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2080T	12						.						92.0	92.0	92.0					12																	72969118		2203	4300	6503	71255385	SO:0001583	missense	29953	exon11			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2080G>T	12.37:g.72969118G>T	ENSP00000261180:p.Asp694Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	71255385	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374910	0.82573	.	.	ENSG00000072657	ENST00000261180	T	0.66995	-0.24	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.86243	0.5886	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88771	0.3264	10	0.87932	D	0	.	19.6248	0.95674	0.0:0.0:1.0:0.0	.	694	Q9UKU6	TRHDE_HUMAN	Y	694	ENSP00000261180:D694Y	ENSP00000261180:D694Y	D	+	1	0	TRHDE	71255385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.046000	0.93817	2.716000	0.92895	0.563000	0.77884	GAC		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
GLIPR1L1	256710	broad.mit.edu	37	12	75741502	75741502	+	Splice_Site	SNP	C	C	A	rs376918511		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:75741502C>A	ENST00000378695.4	+	3	611	c.521C>A	c.(520-522)gCa>gAa	p.A174E	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Splice_Site_p.A174E			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	174					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)		p.A174E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TACGGACCTGCGTGAGTTATT	0.353																																					p.A174E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C521A	12						.						103.0	100.0	101.0					12																	75741502		2203	4300	6503	74027769	SO:0001630	splice_region_variant	256710	exon3			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.521+1C>A	12.37:g.75741502C>A		Somatic		Capture	Illumina HiSeq	Phase_I	74027769	NM_152779	Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37		.	.	.	.	.	.	.	.	.	.	C	16.61	3.171127	0.57584	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.47869	0.83;0.83	5.13	4.22	0.49857	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (2);	0.623994	0.14473	N	0.317417	T	0.62196	0.2408	L	0.49571	1.57	0.43457	D	0.995655	P;D	0.76494	0.913;0.999	P;D	0.77004	0.769;0.989	T	0.59166	-0.7505	10	0.48119	T	0.1	.	12.9793	0.58554	0.0:0.8368:0.1632:0.0	.	174;174	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	E	174	ENSP00000367967:A174E;ENSP00000310770:A174E	ENSP00000310770:A174E	A	+	2	0	GLIPR1L1	74027769	0.019000	0.18553	0.997000	0.53966	0.529000	0.34654	0.011000	0.13264	1.265000	0.44215	0.591000	0.81541	GCA		0.353	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779	Missense_Mutation
NAP1L1	4673	broad.mit.edu	37	12	76453579	76453579	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:76453579G>A	ENST00000261182.8	-	6	914	c.428C>T	c.(427-429)tCg>tTg	p.S143L	NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000393263.3_Splice_Site_p.S143L|NAP1L1_ENST00000542344.1_Splice_Site_p.S102L|NAP1L1_ENST00000552342.1_Splice_Site_p.S143L|NAP1L1_ENST00000547773.1_Splice_Site_p.S80L|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000549596.1_Splice_Site_p.S143L|NAP1L1_ENST00000535020.2_Splice_Site_p.S143L|NAP1L1_ENST00000548044.1_Splice_Site_p.S102L|NAP1L1_ENST00000547993.1_5'Flank	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	143	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S143L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGTACTAACCGAAATCTCATC	0.274																																					p.S143L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428T	12						.						86.0	83.0	84.0					12																	76453579		2202	4296	6498	74739846	SO:0001630	splice_region_variant	4673	exon6				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.429+1C>T	12.37:g.76453579G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74739846	NM_004537	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413284	0.42817	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000551992;ENST00000548273;ENST00000547704;ENST00000551524	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.49	5.49	0.81192	.	0.247666	0.40469	N	0.001084	T	0.35885	0.0947	L	0.37850	1.14	0.38552	D	0.949486	B;B;B;B;B;B	0.17268	0.01;0.006;0.019;0.021;0.005;0.007	B;B;B;B;B;B	0.18263	0.008;0.009;0.013;0.021;0.005;0.009	T	0.13308	-1.0514	10	0.33141	T	0.24	.	16.0904	0.81088	0.0:0.0:0.8656:0.1344	.	143;102;143;143;80;143	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;F8W543;P55209	.;.;.;.;.;NP1L1_HUMAN	L	143;137;143;80;102;143;143;143;102;143;102;143;102	ENSP00000261182:S143L;ENSP00000450236:S137L;ENSP00000376947:S143L;ENSP00000448167:S80L;ENSP00000444759:S102L;ENSP00000445008:S143L;ENSP00000447793:S143L;ENSP00000447196:S143L;ENSP00000449649:S102L;ENSP00000448764:S143L;ENSP00000446787:S102L;ENSP00000446756:S143L;ENSP00000448661:S102L	ENSP00000261182:S143L	S	-	2	0	NAP1L1	74739846	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	6.513000	0.73742	2.743000	0.94032	0.644000	0.83932	TCG		0.274	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	Missense_Mutation
MYF5	4617	broad.mit.edu	37	12	81110944	81110944	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:81110944G>A	ENST00000228644.3	+	1	254	c.102G>A	c.(100-102)ccG>ccA	p.P34P		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	34					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.P34P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGTTTGTGCCGCGAGTGGCTG	0.622																																					p.P34P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G102A	12						.						42.0	39.0	40.0					12																	81110944		2203	4300	6503	79635075	SO:0001819	synonymous_variant	4617	exon1				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.102G>A	12.37:g.81110944G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79635075	NM_005593	Q6ISR9	Silent	SNP	ENST00000228644.3	37	CCDS9020.1																																																																																				0.622	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
TMTC2	160335	broad.mit.edu	37	12	83251207	83251207	+	Missense_Mutation	SNP	A	A	C	rs191421267		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:83251207A>C	ENST00000321196.3	+	2	1209	c.502A>C	c.(502-504)Acc>Ccc	p.T168P	TMTC2_ENST00000549919.1_Missense_Mutation_p.T162P|TMTC2_ENST00000548305.1_Missense_Mutation_p.T168P	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	168					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T168P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAGCCAGAACCTGGGGCTG	0.527																																					p.T168P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A502C	12						.						88.0	71.0	77.0					12																	83251207		2203	4300	6503	81775338	SO:0001583	missense	160335	exon2			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.502A>C	12.37:g.83251207A>C	ENSP00000322300:p.Thr168Pro	Somatic		Capture	Illumina HiSeq	Phase_I	81775338	NM_152588	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899949	0.17686	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.61274	0.77;0.12;0.67	5.6	5.6	0.85130	.	0.254821	0.40144	N	0.001173	T	0.44052	0.1275	L	0.35793	1.09	0.80722	D	1	B;P	0.38420	0.002;0.63	B;B	0.29353	0.004;0.101	T	0.40905	-0.9538	10	0.30078	T	0.28	-19.9756	14.6569	0.68838	1.0:0.0:0.0:0.0	.	168;168	Q8N394;F8VSH2	TMTC2_HUMAN;.	P	168;168;162	ENSP00000322300:T168P;ENSP00000448292:T168P;ENSP00000447609:T162P	ENSP00000322300:T168P	T	+	1	0	TMTC2	81775338	0.604000	0.26932	0.999000	0.59377	0.673000	0.39480	3.008000	0.49544	2.251000	0.74343	0.528000	0.53228	ACC		0.527	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
TMTC2	160335	broad.mit.edu	37	12	83289948	83289948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:83289948G>T	ENST00000321196.3	+	3	1713	c.1006G>T	c.(1006-1008)Gaa>Taa	p.E336*	TMTC2_ENST00000549919.1_Nonsense_Mutation_p.E330*|TMTC2_ENST00000548305.1_Nonsense_Mutation_p.E336*	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	336					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.E336*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CGTAGACAGAGAATGCAATGG	0.458																																					p.E336X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1006T	12						.						101.0	99.0	100.0					12																	83289948		2203	4300	6503	81814079	SO:0001587	stop_gained	160335	exon3			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1006G>T	12.37:g.83289948G>T	ENSP00000322300:p.Glu336*	Somatic		Capture	Illumina HiSeq	Phase_I	81814079	NM_152588	B2RCU7|Q8N2K8	Nonsense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	44	10.669446	0.99447	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	.	.	.	5.99	5.99	0.97316	.	0.187196	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-10.0859	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	X	336;336;330;91	.	ENSP00000322300:E336X	E	+	1	0	TMTC2	81814079	1.000000	0.71417	0.988000	0.46212	0.584000	0.36387	7.276000	0.78559	2.840000	0.97914	0.655000	0.94253	GAA		0.458	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
LRRIQ1	84125	broad.mit.edu	37	12	85438564	85438564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:85438564G>T	ENST00000393217.2	+	4	374	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	105								p.E105*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAATATGAAGAAAGTTCAGA	0.269																																					p.E105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G313T	12						.						51.0	56.0	54.0					12																	85438564		2187	4256	6443	83962695	SO:0001587	stop_gained	84125	exon4			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.313G>T	12.37:g.85438564G>T	ENSP00000376910:p.Glu105*	Somatic		Capture	Illumina HiSeq	Phase_I	83962695	NM_032165	Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661199|2.661199	0.47572|0.47572	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217|ENST00000533414	.|.	.|.	.|.	4.79|4.79	3.88|3.88	0.44766|0.44766	.|.	0.450029|.	0.18543|.	N|.	0.138136|.	.|T	.|0.54382	.|0.1855	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64076	.|-0.6492	.|3	0.52906|.	T|.	0.07|.	.|.	10.9398|10.9398	0.47266|0.47266	0.0:0.1896:0.8104:0.0|0.0:0.1896:0.8104:0.0	.|.	.|.	.|.	.|.	X|N	105|2	.|.	ENSP00000256007:E105X|.	E|K	+|+	1|3	0|2	LRRIQ1|LRRIQ1	83962695|83962695	0.997000|0.997000	0.39634|0.39634	0.171000|0.171000	0.22900|0.22900	0.117000|0.117000	0.20001|0.20001	2.984000|2.984000	0.49353|0.49353	1.326000|1.326000	0.45319|0.45319	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.269	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85521745	85521745	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:85521745G>T	ENST00000393217.2	+	18	4204	c.4143G>T	c.(4141-4143)aaG>aaT	p.K1381N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1381								p.K1381N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTATTTTAAAGAAAGGAAAAA	0.373																																					p.K1381N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4143T	12						.						128.0	129.0	129.0					12																	85521745		1829	4087	5916	84045876	SO:0001583	missense	84125	exon18			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4143G>T	12.37:g.85521745G>T	ENSP00000376910:p.Lys1381Asn	Somatic		Capture	Illumina HiSeq	Phase_I	84045876	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	3.705	-0.060680	0.07317	.	.	ENSG00000133640	ENST00000393217	T	0.52295	0.67	5.21	2.34	0.29019	.	.	.	.	.	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	P	0.50272	0.933	P	0.44860	0.462	T	0.05099	-1.0906	9	0.40728	T	0.16	.	2.1852	0.03885	0.2122:0.1088:0.4667:0.2123	.	1381	Q96JM4	LRIQ1_HUMAN	N	1381	ENSP00000376910:K1381N	ENSP00000376910:K1381N	K	+	3	2	LRRIQ1	84045876	0.001000	0.12720	0.685000	0.30070	0.263000	0.26337	0.021000	0.13489	0.698000	0.31739	0.591000	0.81541	AAG		0.373	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85623348	85623348	+	Missense_Mutation	SNP	C	C	T	rs1395676	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:85623348C>T	ENST00000393217.2	+	25	4937	c.4876C>T	c.(4876-4878)Cgg>Tgg	p.R1626W	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1626								p.R1626W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAATTAGAACGGAATAGAGA	0.358																																					p.R1626W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4876T	12						.						122.0	117.0	118.0					12																	85623348		1822	4083	5905	84147479	SO:0001583	missense	84125	exon25			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4876C>T	12.37:g.85623348C>T	ENSP00000376910:p.Arg1626Trp	Somatic		Capture	Illumina HiSeq	Phase_I	84147479	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038929	0.07497	.	.	ENSG00000133640	ENST00000393217	T	0.55052	0.54	5.3	-0.326	0.12698	.	.	.	.	.	T	0.32675	0.0837	N	0.24115	0.695	0.09310	N	0.999994	B	0.33777	0.425	B	0.24269	0.052	T	0.15521	-1.0434	9	0.87932	D	0	.	8.6648	0.34114	0.4479:0.4346:0.0:0.1174	.	1626	Q96JM4	LRIQ1_HUMAN	W	1626	ENSP00000376910:R1626W	ENSP00000376910:R1626W	R	+	1	2	LRRIQ1	84147479	0.998000	0.40836	0.452000	0.26994	0.279000	0.26890	0.865000	0.27940	0.065000	0.16485	-0.272000	0.10252	CGG		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
RASSF9	9182	broad.mit.edu	37	12	86198736	86198736	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:86198736T>C	ENST00000361228.3	-	2	1420	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	351					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.Q351R(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTTCATCTGAAGCAATGA	0.383																																					p.Q351R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1052G	12						.						181.0	182.0	181.0					12																	86198736		1843	4091	5934	84722867	SO:0001583	missense	9182	exon2				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1052A>G	12.37:g.86198736T>C	ENSP00000354884:p.Gln351Arg	Somatic		Capture	Illumina HiSeq	Phase_I	84722867	NM_005447	B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458562	0.26248	.	.	ENSG00000198774	ENST00000361228	T	0.46819	0.86	5.2	4.02	0.46733	.	0.421484	0.22417	U	0.060335	T	0.29126	0.0724	L	0.27053	0.805	0.33536	D	0.594276	B	0.34015	0.435	B	0.28139	0.086	T	0.35919	-0.9769	10	0.17369	T	0.5	-12.1258	9.6228	0.39732	0.2791:0.0:0.0:0.7209	.	351	O75901	RASF9_HUMAN	R	351	ENSP00000354884:Q351R	ENSP00000354884:Q351R	Q	-	2	0	RASSF9	84722867	0.996000	0.38824	1.000000	0.80357	0.973000	0.67179	1.881000	0.39638	0.882000	0.36016	0.528000	0.53228	CAG		0.383	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1		
RASSF9	9182	broad.mit.edu	37	12	86199292	86199292	+	Missense_Mutation	SNP	G	G	A	rs187203747		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:86199292G>A	ENST00000361228.3	-	2	864	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	166					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.R166W(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCAGTTTCCGGAAAGTTTTC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19466	0.0		0.001	False		,,,				2504	0.0				p.R166W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	12						.	G	TRP/ARG	0,3684		0,0,1842	166.0	162.0	163.0		496	4.0	1.0	12		163	1,8161		0,1,4080	no	missense	RASSF9	NM_005447.3	101	0,1,5922	AA,AG,GG		0.0123,0.0,0.0084	probably-damaging	166/436	86199292	1,11845	1842	4081	5923	84723423	SO:0001583	missense	9182	exon2				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.496C>T	12.37:g.86199292G>A	ENSP00000354884:p.Arg166Trp	Somatic		Capture	Illumina HiSeq	Phase_I	84723423	NM_005447	B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.41	3.114433	0.56505	0.0	1.23E-4	ENSG00000198774	ENST00000361228	T	0.54279	0.58	4.91	3.96	0.45880	.	0.000000	0.64402	D	0.000001	T	0.72574	0.3477	M	0.78637	2.42	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	T	0.77365	-0.2615	10	0.87932	D	0	-1.1093	15.1016	0.72284	0.0:0.0:0.8026:0.1974	.	166	O75901	RASF9_HUMAN	W	166	ENSP00000354884:R166W	ENSP00000354884:R166W	R	-	1	2	RASSF9	84723423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.882000	0.28186	1.104000	0.41587	0.655000	0.94253	CGG		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1		
NTS	4922	broad.mit.edu	37	12	86276102	86276102	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:86276102G>T	ENST00000256010.6	+	4	569	c.462G>T	c.(460-462)gaG>gaT	p.E154D	NTS_ENST00000551529.1_Missense_Mutation_p.E79D	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	154					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)		p.E154D(1)		large_intestine(2)|lung(6)	8						AGCTGTATGAGAATAAACCCA	0.318																																					p.E154D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G462T	12						.						92.0	105.0	100.0					12																	86276102		2203	4296	6499	84800233	SO:0001583	missense	4922	exon4				CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.462G>T	12.37:g.86276102G>T	ENSP00000256010:p.Glu154Asp	Somatic		Capture	Illumina HiSeq	Phase_I	84800233	NM_006183		Missense_Mutation	SNP	ENST00000256010.6	37	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496541	0.44352	.	.	ENSG00000133636	ENST00000551529;ENST00000256010;ENST00000550879	.	.	.	5.84	0.799	0.18667	.	0.396382	0.27891	N	0.017438	T	0.27524	0.0676	L	0.44542	1.39	0.26619	N	0.972697	B	0.09022	0.002	B	0.09377	0.004	T	0.20273	-1.0280	9	0.62326	D	0.03	-4.7648	1.7288	0.02928	0.3206:0.2167:0.3519:0.1109	.	154	P30990	NEUT_HUMAN	D	79;154;99	.	ENSP00000256010:E154D	E	+	3	2	NTS	84800233	0.580000	0.26733	0.999000	0.59377	0.995000	0.86356	-0.403000	0.07214	0.087000	0.17167	0.591000	0.81541	GAG		0.318	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2		
MGAT4C	25834	broad.mit.edu	37	12	86383212	86383212	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:86383212A>C	ENST00000604798.1	-	6	1317	c.113T>G	c.(112-114)tTt>tGt	p.F38C	MGAT4C_ENST00000552808.2_Missense_Mutation_p.F38C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.F38C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F67C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.F38C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.F38C|MGAT4C_ENST00000552435.2_Missense_Mutation_p.F38C			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	38					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.F38C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CAAGTTCATAAAAAGGAGAAA	0.328																																					p.F38C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T113G	12						.						85.0	75.0	78.0					12																	86383212		2203	4298	6501	84907343	SO:0001583	missense	25834	exon5				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.113T>G	12.37:g.86383212A>C	ENSP00000474896:p.Phe38Cys	Somatic		Capture	Illumina HiSeq	Phase_I	84907343	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281392	0.80692	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.44881	1.5;1.47;1.5;1.5;1.5;0.91	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.34521	1.04	0.58432	D	0.999991	D;P	0.89917	1.0;0.947	D;B	0.83275	0.996;0.436	T	0.53429	-0.8440	10	0.44086	T	0.13	-10.1027	16.2041	0.82108	1.0:0.0:0.0:0.0	.	67;38	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	38;67;38;38;38;38;38;38	ENSP00000331664:F38C;ENSP00000376900:F67C;ENSP00000449022:F38C;ENSP00000446647:F38C;ENSP00000447253:F38C;ENSP00000449172:F38C	ENSP00000331664:F38C	F	-	2	0	MGAT4C	84907343	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.584000	0.90798	2.219000	0.72066	0.533000	0.62120	TTT		0.328	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
CEP290	80184	broad.mit.edu	37	12	88476830	88476830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:88476830C>A	ENST00000552810.1	-	37	5333	c.4990G>T	c.(4990-4992)Gaa>Taa	p.E1664*	CEP290_ENST00000397838.3_Nonsense_Mutation_p.E724*|CEP290_ENST00000309041.7_Nonsense_Mutation_p.E1666*|CEP290_ENST00000547691.2_Nonsense_Mutation_p.E724*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1664					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.E1666*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTCAAATTCTTTTACTTTT	0.299																																					p.E1664X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4990T	12						.						47.0	41.0	43.0					12																	88476830		1767	4003	5770	87000961	SO:0001587	stop_gained	80184	exon37			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4990G>T	12.37:g.88476830C>A	ENSP00000448012:p.Glu1664*	Somatic		Capture	Illumina HiSeq	Phase_I	87000961	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	47	13.708619	0.99758	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	.	.	.	5.55	5.55	0.83447	.	0.169863	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.4933	0.95060	0.0:1.0:0.0:0.0	.	.	.	.	X	724;1664;1666;724	.	ENSP00000308021:E1666X	E	-	1	0	CEP290	87000961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.578000	0.60929	2.602000	0.87976	0.650000	0.86243	GAA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
KERA	11081	broad.mit.edu	37	12	91449349	91449349	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:91449349G>T	ENST00000266719.3	-	2	957	c.710C>A	c.(709-711)cCt>cAt	p.P237H		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	237					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P237H(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GGCCACTTTAGGAATCACATT	0.368																																					p.P237H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C710A	12						.						104.0	102.0	103.0					12																	91449349		2203	4299	6502	89973480	SO:0001583	missense	11081	exon2			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.710C>A	12.37:g.91449349G>T	ENSP00000266719:p.Pro237His	Somatic		Capture	Illumina HiSeq	Phase_I	89973480	NM_007035		Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350866	0.61183	.	.	ENSG00000139330	ENST00000266719	T	0.21031	2.03	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	M	0.63169	1.94	0.80722	D	1	B	0.32620	0.378	B	0.31290	0.127	T	0.01448	-1.1352	10	0.54805	T	0.06	-16.6035	14.7703	0.69671	0.0684:0.0:0.9316:0.0	.	237	O60938	KERA_HUMAN	H	237	ENSP00000266719:P237H	ENSP00000266719:P237H	P	-	2	0	KERA	89973480	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.658000	0.83755	2.894000	0.99253	0.655000	0.94253	CCT		0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035	
CRADD	8738	broad.mit.edu	37	12	94243966	94243966	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:94243966G>A	ENST00000542893.2	+	3	837	c.519G>A	c.(517-519)aaG>aaA	p.K173K	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Silent_p.K173K			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	173	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)	p.K173K(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GCTTCGGGAAGCAGGCCACCT	0.642																																					p.K173K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	12						.						45.0	44.0	44.0					12																	94243966		2203	4300	6503	92768097	SO:0001819	synonymous_variant	8738	exon3			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.519G>A	12.37:g.94243966G>A		Somatic		Capture	Illumina HiSeq	Phase_I	92768097	NM_003805	B7Z2Q5	Silent	SNP	ENST00000542893.2	37	CCDS9048.1																																																																																				0.642	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805	
CEP83	51134	broad.mit.edu	37	12	94763806	94763806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:94763806C>A	ENST00000397809.5	-	9	1489	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	CCDC41_ENST00000397807.2_Nonsense_Mutation_p.E281*|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.E314*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.E314*	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		306					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.E314*(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTTTAAGTTCTTTTACCTGT	0.338																																					p.E314X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G940T	12						.						211.0	191.0	197.0					12																	94763806		1841	4105	5946	93287937	SO:0001587	stop_gained	51134	exon9																														ENST00000397809.5:c.940G>T	12.37:g.94763806C>A	ENSP00000380911:p.Glu314*	Somatic		Capture	Illumina HiSeq	Phase_I	93287937	NM_016122	A4FVB1|Q08AP1	Nonsense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	40	8.181783	0.98693	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.0605	18.979	0.92748	0.0:1.0:0.0:0.0	.	.	.	.	X	314;314;281;314	.	ENSP00000344655:E314X	E	-	1	0	CCDC41	93287937	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.641000	0.61375	2.560000	0.86352	0.585000	0.79938	GAA		0.338	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
CEP83	51134	broad.mit.edu	37	12	94805517	94805517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:94805517C>A	ENST00000397809.5	-	4	829	c.280G>T	c.(280-282)Gaa>Taa	p.E94*	CCDC41_ENST00000397807.2_Nonsense_Mutation_p.E61*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.E94*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.E94*	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		86					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.E94*(2)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCTACTAATTCTCCTCTTAGT	0.338																																					p.E94X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G280T	12						.						107.0	99.0	102.0					12																	94805517		1804	4059	5863	93329648	SO:0001587	stop_gained	51134	exon4																														ENST00000397809.5:c.280G>T	12.37:g.94805517C>A	ENSP00000380911:p.Glu94*	Somatic		Capture	Illumina HiSeq	Phase_I	93329648	NM_016122	A4FVB1|Q08AP1	Nonsense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	38	6.885434	0.97908	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	.	.	.	4.88	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.964	14.4521	0.67392	0.0:0.7204:0.2795:0.0	.	.	.	.	X	94;94;61;94	.	ENSP00000344655:E94X	E	-	1	0	CCDC41	93329648	0.997000	0.39634	0.827000	0.32855	0.294000	0.27393	3.669000	0.54561	1.137000	0.42214	0.655000	0.94253	GAA		0.338	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
USP44	84101	broad.mit.edu	37	12	95927201	95927201	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:95927201A>C	ENST00000258499.3	-	2	1120	c.832T>G	c.(832-834)Ttg>Gtg	p.L278V	USP44_ENST00000537435.2_Missense_Mutation_p.L278V|USP44_ENST00000552440.1_Missense_Mutation_p.L278V|USP44_ENST00000393091.2_Missense_Mutation_p.L278V	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	278	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L278V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTATTTCCCAAATTTCTCAAT	0.363																																					p.L278V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T832G	12						.						95.0	96.0	96.0					12																	95927201		2203	4300	6503	94451332	SO:0001583	missense	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.832T>G	12.37:g.95927201A>C	ENSP00000258499:p.Leu278Val	Somatic		Capture	Illumina HiSeq	Phase_I	94451332	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309316	0.40895	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	4.87	3.73	0.42828	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	M	0.91140	3.18	0.44048	D	0.99678	D	0.63880	0.993	D	0.63381	0.914	T	0.00507	-1.1699	10	0.56958	D	0.05	.	7.1526	0.25618	0.7341:0.0:0.2659:0.0	.	278	Q9H0E7	UBP44_HUMAN	V	278	ENSP00000258499:L278V;ENSP00000376806:L278V;ENSP00000448670:L278V;ENSP00000442629:L278V	ENSP00000258499:L278V	L	-	1	2	USP44	94451332	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.682000	0.37628	0.828000	0.34709	0.402000	0.26972	TTG		0.363	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
TMPO	7112	broad.mit.edu	37	12	98926686	98926686	+	Intron	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:98926686A>G	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Silent_p.G217G|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.G217G(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGTGGTGGATTTTTTCAGG	0.438																																					p.G217G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A651G	12						.						83.0	87.0	85.0					12																	98926686		2203	4300	6503	97450817	SO:0001627	intron_variant	7112	exon4				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1070A>G	12.37:g.98926686A>G		Somatic		Capture	Illumina HiSeq	Phase_I	97450817	NM_003276	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1																																																																																				0.438	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
SLC25A3	5250	broad.mit.edu	37	12	98995045	98995045	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:98995045G>T	ENST00000228318.3	+	7	1034	c.914G>T	c.(913-915)aGa>aTa	p.R305I	SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R304I|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R305I|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R304I|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.R304I|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R304I	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	305					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.R305I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GTCCTCAAGAGACTTGGATTT	0.373																																					p.R304I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911T	12						.						128.0	120.0	123.0					12																	98995045		2203	4300	6503	97519176	SO:0001583	missense	5250	exon7				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.914G>T	12.37:g.98995045G>T	ENSP00000228318:p.Arg305Ile	Somatic		Capture	Illumina HiSeq	Phase_I	97519176	NM_002635	B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187122	0.57909	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.47	5.47	0.80525	Mitochondrial carrier domain (2);	0.042389	0.85682	D	0.000000	D	0.82976	0.5154	M	0.64997	1.995	0.80722	D	1	P;P;B	0.41102	0.738;0.486;0.312	P;B;B	0.48488	0.579;0.14;0.138	D	0.84078	0.0383	10	0.72032	D	0.01	-15.4539	19.6957	0.96023	0.0:0.0:1.0:0.0	.	304;305;304	B2RE88;Q00325;Q00325-2	.;MPCP_HUMAN;.	I	304;304;305;305;304;304	ENSP00000383898:R304I;ENSP00000188376:R304I;ENSP00000228318:R305I;ENSP00000447310:R305I;ENSP00000448708:R304I;ENSP00000447740:R304I	ENSP00000188376:R304I	R	+	2	0	SLC25A3	97519176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.880000	0.75578	2.727000	0.93392	0.650000	0.86243	AGA		0.373	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888	
APAF1	317	broad.mit.edu	37	12	99093220	99093220	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:99093220G>T	ENST00000551964.1	+	17	3075	c.2339G>T	c.(2338-2340)aGc>aTc	p.S780I	APAF1_ENST00000339433.3_Missense_Mutation_p.S780I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.S780I|APAF1_ENST00000549007.1_Missense_Mutation_p.S780I|APAF1_ENST00000547045.1_Missense_Mutation_p.S780I|APAF1_ENST00000550527.1_Missense_Mutation_p.S769I|APAF1_ENST00000359972.2_Missense_Mutation_p.S769I	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	780					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.S780I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAGAGGAAAAGCATTAATGTG	0.353																																					p.S769I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2306T	12						.						95.0	89.0	91.0					12																	99093220		2203	4300	6503	97617351	SO:0001583	missense	317	exon17			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2339G>T	12.37:g.99093220G>T	ENSP00000448165:p.Ser780Ile	Somatic		Capture	Illumina HiSeq	Phase_I	97617351	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418722	0.62622	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.81330	1.56;2.19;4.96;-1.48;1.56;4.96;-1.48	5.74	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.180007	0.64402	D	0.000014	D	0.86293	0.5898	M	0.68317	2.08	0.80722	D	1	B;P;B;B;D	0.89917	0.189;0.954;0.082;0.251;1.0	B;P;B;B;D	0.78314	0.065;0.784;0.036;0.021;0.991	D	0.85181	0.1004	10	0.41790	T	0.15	-4.2718	8.5557	0.33480	0.0802:0.2571:0.6627:0.0	.	780;780;769;780;769	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	I	780;769;780;780;769;780;780	ENSP00000448165:S780I;ENSP00000353059:S769I;ENSP00000349862:S780I;ENSP00000341830:S780I;ENSP00000448449:S769I;ENSP00000449791:S780I;ENSP00000448161:S780I	ENSP00000341830:S780I	S	+	2	0	APAF1	97617351	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.492000	0.45311	1.427000	0.47276	0.655000	0.94253	AGC		0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
APAF1	317	broad.mit.edu	37	12	99097277	99097277	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:99097277G>A	ENST00000551964.1	+	18	3331	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	APAF1_ENST00000550527.1_Splice_Site_p.E854E|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000359972.2_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	865					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.E865E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ACTGTGTAGAGGTGAGTAGTT	0.478																																					p.E854E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2562A	12						.						100.0	89.0	93.0					12																	99097277		2203	4300	6503	97621408	SO:0001630	splice_region_variant	317	exon18			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2595+1G>A	12.37:g.99097277G>A		Somatic		Capture	Illumina HiSeq	Phase_I	97621408	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																				0.478	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Silent
ANKS1B	56899	broad.mit.edu	37	12	99640585	99640585	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:99640585A>C	ENST00000547776.2	-	13	1813	c.1814T>G	c.(1813-1815)tTt>tGt	p.F605C	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.F605C|ANKS1B_ENST00000547010.1_Missense_Mutation_p.F185C	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	605						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.F605C(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGCCTGCAAATTGCCCAGG	0.453																																					p.F605C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1814G	12						.						153.0	146.0	148.0					12																	99640585		1879	4098	5977	98164716	SO:0001583	missense	56899	exon13			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1814T>G	12.37:g.99640585A>C	ENSP00000449629:p.Phe605Cys	Somatic		Capture	Illumina HiSeq	Phase_I	98164716	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	De_novo_Start_OutOfFrame	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.783759	0.70222	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.74002	0.19;-0.8;0.2	5.62	5.62	0.85841	.	0.059780	0.64402	D	0.000002	D	0.83271	0.5218	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.82812	-0.0272	9	.	.	.	-11.4657	14.6881	0.69065	1.0:0.0:0.0:0.0	.	185;605	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	C	605;185;605;184	ENSP00000449629:F605C;ENSP00000448512:F185C;ENSP00000331381:F605C	.	F	-	2	0	ANKS1B	98164716	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.164000	0.89661	2.270000	0.75569	0.459000	0.35465	TTT		0.453	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
UHRF1BP1L	23074	broad.mit.edu	37	12	100453199	100453199	+	Missense_Mutation	SNP	C	C	T	rs374748413		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:100453199C>T	ENST00000279907.7	-	14	2068	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R269Q	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	619								p.R619Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTCAGAATGTCGACAGTTTGG	0.353																																					p.R619Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	12						.	C	GLN/ARG	0,4406		0,0,2203	47.0	50.0	49.0		1856	5.6	1.0	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	UHRF1BP1L	NM_015054.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	619/1465	100453199	1,13005	2203	4300	6503	98977330	SO:0001583	missense	23074	exon14				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1856G>A	12.37:g.100453199C>T	ENSP00000279907:p.Arg619Gln	Somatic		Capture	Illumina HiSeq	Phase_I	98977330	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810483	0.70797	0.0	1.16E-4	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10477	2.88;2.87	5.56	5.56	0.83823	.	0.071690	0.56097	D	0.000028	T	0.22166	0.0534	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	P	0.52598	0.703	T	0.00114	-1.2041	10	0.52906	T	0.07	-7.7813	19.5255	0.95203	0.0:1.0:0.0:0.0	.	619	A0JNW5	UH1BL_HUMAN	Q	619;269	ENSP00000279907:R619Q;ENSP00000444824:R269Q	ENSP00000279907:R619Q	R	-	2	0	UHRF1BP1L	98977330	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	4.740000	0.62087	2.624000	0.88883	0.650000	0.86243	CGA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
DEPDC4	120863	broad.mit.edu	37	12	100656060	100656060	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:100656060G>T	ENST00000416321.1	-	3	684	c.682C>A	c.(682-684)Ctc>Atc	p.L228I		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	228					intracellular signal transduction (GO:0035556)			p.L228I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GAAAGCCGGAGAAAAGGTTTC	0.338																																					p.L228I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682A	12						.						91.0	87.0	88.0					12																	100656060		2203	4300	6503	99180191	SO:0001583	missense	120863	exon3			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.682C>A	12.37:g.100656060G>T	ENSP00000396234:p.Leu228Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99180191	NM_152317	Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	CCDS9075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.462|9.462	1.093347|1.093347	0.20471|0.20471	.|.	.|.	ENSG00000166153|ENSG00000166153	ENST00000548313|ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.|T;T;T;T	.|0.33654	.|1.4;1.41;1.45;1.41	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	.|0.736269	.|0.12534	.|U	.|0.460529	T|T	0.24547|0.24547	0.0595|0.0595	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;P;P	.|0.47762	.|0.244;0.244;0.9;0.652	.|B;B;B;B	.|0.37267	.|0.073;0.073;0.245;0.053	T|T	0.06373|0.06373	-1.0830|-1.0830	6|10	0.19147|0.29301	T|T	0.46|0.29	.|.	8.3908|8.3908	0.32526|0.32526	0.1105:0.0:0.8895:0.0|0.1105:0.0:0.8895:0.0	.|.	.|228;228;161;228	.|E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.|.;.;.;DEPD4_HUMAN	L|I	25|228;161;228;228;161;221	.|ENSP00000396234:L228I;ENSP00000448385:L228I;ENSP00000448338:L161I;ENSP00000449590:L221I	ENSP00000448728:F25L|ENSP00000367490:L228I	F|L	-|-	3|1	2|0	DEPDC4|DEPDC4	99180191|99180191	0.965000|0.965000	0.33210|0.33210	0.322000|0.322000	0.25334|0.25334	0.475000|0.475000	0.33008|0.33008	2.030000|2.030000	0.41108|0.41108	1.973000|1.973000	0.57446|0.57446	0.514000|0.514000	0.50259|0.50259	TTC|CTC		0.338	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317	
SCYL2	55681	broad.mit.edu	37	12	100729427	100729427	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:100729427G>T	ENST00000360820.2	+	15	2324	c.1887G>T	c.(1885-1887)atG>atT	p.M629I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	629					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.M633I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GAAATCAAATGAATGTTTCTG	0.294																																					p.M629I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1887T	12						.						75.0	80.0	78.0					12																	100729427		2201	4298	6499	99253558	SO:0001583	missense	55681	exon15			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1887G>T	12.37:g.100729427G>T	ENSP00000354061:p.Met629Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99253558	NM_017988	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027671	0.19512	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.28255	1.95;1.62	5.27	2.24	0.28232	.	0.572581	0.20813	N	0.085213	T	0.13543	0.0328	N	0.04880	-0.145	0.34367	D	0.69163	B	0.02656	0.0	B	0.01281	0.0	T	0.10520	-1.0626	10	0.35671	T	0.21	.	7.8584	0.29495	0.0745:0.0:0.6406:0.2849	.	629	Q6P3W7	SCYL2_HUMAN	I	629	ENSP00000448366:M629I;ENSP00000354061:M629I	ENSP00000354061:M629I	M	+	3	0	SCYL2	99253558	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	1.908000	0.39907	0.703000	0.31848	-0.152000	0.13540	ATG		0.294	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
ANO4	121601	broad.mit.edu	37	12	101336254	101336254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:101336254G>T	ENST00000392977.3	+	5	607	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	ANO4_ENST00000392979.3_Nonsense_Mutation_p.E98*|ANO4_ENST00000538618.1_Nonsense_Mutation_p.E299*|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	133					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E98*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCCCAGACTGAAAAGAGAGA	0.358										HNSCC(74;0.22)																											p.E98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	12						.						128.0	136.0	133.0					12																	101336254		2203	4300	6503	99860385	SO:0001587	stop_gained	121601	exon4			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.397G>T	12.37:g.101336254G>T	ENSP00000376703:p.Glu133*	Somatic		Capture	Illumina HiSeq	Phase_I	99860385	NM_178826	Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	42	9.264613	0.99118	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.6214	0.95658	0.0:0.0:1.0:0.0	.	.	.	.	X	299;98;133	.	ENSP00000376703:E133X	E	+	1	0	ANO4	99860385	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	8.760000	0.91671	2.644000	0.89710	0.655000	0.94253	GAA		0.358	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
ZNF10	7556	broad.mit.edu	37	12	133733503	133733503	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr12:133733503C>T	ENST00000248211.6	+	5	1893	c.1671C>T	c.(1669-1671)acC>acT	p.T557T	ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Silent_p.T557T|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Silent_p.T423T	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	557					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.T557T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTGTTAATACCTCTAACCTTA	0.348																																					p.T557T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1671T	12						.						68.0	68.0	68.0					12																	133733503		2203	4300	6503	132243576	SO:0001819	synonymous_variant	7556	exon5			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1671C>T	12.37:g.133733503C>T		Somatic		Capture	Illumina HiSeq	Phase_I	132243576	NM_015394	B2RBS1|Q8TC91	Silent	SNP	ENST00000248211.6	37	CCDS9283.1																																																																																				0.348	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
TMTC4	84899	broad.mit.edu	37	13	101257341	101257341	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:101257341G>T	ENST00000376234.3	-	18	2322	c.2133C>A	c.(2131-2133)atC>atA	p.I711I	TMTC4_ENST00000328767.5_Silent_p.I600I|TMTC4_ENST00000342624.5_Silent_p.I730I	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	711						integral component of membrane (GO:0016021)		p.I730I(2)|p.I730M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCAAGGAGATTTCATAGT	0.433																																					p.I730I												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	cervix(1)|large_intestine(1)|lung(1)	c.C2190A	13						.						273.0	241.0	252.0					13																	101257341		2203	4300	6503	100055342	SO:0001819	synonymous_variant	84899	exon19				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2133C>A	13.37:g.101257341G>T		Somatic		Capture	Illumina HiSeq	Phase_I	100055342	NM_032813	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																				0.433	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813	
NALCN	259232	broad.mit.edu	37	13	102029064	102029064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:102029064C>A	ENST00000251127.6	-	6	712	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.D211Y|NALCN_ENST00000376196.3_Missense_Mutation_p.D211Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	211					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.D211Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCTTTGTGTCATTTACAACA	0.294																																					p.D211Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	13						.						100.0	111.0	107.0					13																	102029064		2203	4297	6500	100827065	SO:0001583	missense	259232	exon6			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.631G>T	13.37:g.102029064C>A	ENSP00000251127:p.Asp211Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100827065	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303940	0.40795	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98550	-4.99;-4.99;-4.37	4.77	4.77	0.60923	Ion transport (1);	0.108241	0.64402	D	0.000007	D	0.97297	0.9116	L	0.60067	1.865	0.58432	D	0.999998	P;P	0.44690	0.841;0.539	P;B	0.45681	0.49;0.292	D	0.97424	1.0011	10	0.49607	T	0.09	.	15.0007	0.71469	0.0:0.8574:0.1426:0.0	.	211;211	F2Z323;Q8IZF0	.;NALCN_HUMAN	Y	211	ENSP00000251127:D211Y;ENSP00000365367:D211Y;ENSP00000365373:D211Y	ENSP00000251127:D211Y	D	-	1	0	NALCN	100827065	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.794000	0.55492	2.205000	0.71048	0.650000	0.86243	GAC		0.294	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
FGF14	2259	broad.mit.edu	37	13	102379130	102379130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:102379130C>A	ENST00000376143.4	-	4	438	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	FGF14_ENST00000376131.4_Nonsense_Mutation_p.E152*	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	147					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.E147*(1)|p.E152*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAACAGATTCTTTAAACTTG	0.358																																					p.E152X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G454T	13						.						52.0	52.0	52.0					13																	102379130		2203	4300	6503	101177131	SO:0001587	stop_gained	2259	exon4				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.439G>T	13.37:g.102379130C>A	ENSP00000365313:p.Glu147*	Somatic		Capture	Illumina HiSeq	Phase_I	101177131	NM_175929	Q86YN7|Q96QX6	Nonsense_Mutation	SNP	ENST00000376143.4	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060964	0.93846	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	.	.	.	5.86	5.86	0.93980	.	0.092783	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1854	0.98212	0.0:1.0:0.0:0.0	.	.	.	.	X	152;147	.	ENSP00000365301:E152X	E	-	1	0	FGF14	101177131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.786000	0.95864	0.591000	0.81541	GAA		0.358	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
TPP2	7174	broad.mit.edu	37	13	103289483	103289483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:103289483C>A	ENST00000376065.4	+	14	1766	c.1730C>A	c.(1729-1731)tCa>tAa	p.S577*	TPP2_ENST00000376052.3_Nonsense_Mutation_p.S577*	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	577					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.S577*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTCAAATTCATCTTGGGTT	0.368																																					p.S577X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1730A	13						.						113.0	108.0	110.0					13																	103289483		2203	4300	6503	102087484	SO:0001587	stop_gained	7174	exon14			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1730C>A	13.37:g.103289483C>A	ENSP00000365233:p.Ser577*	Somatic		Capture	Illumina HiSeq	Phase_I	102087484	NM_003291	Q5VZU8	Nonsense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	39	7.631964	0.98399	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.92	5.92	0.95590	.	0.057489	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	.	.	.	X	577	.	ENSP00000365220:S577X	S	+	2	0	TPP2	102087484	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	4.468000	0.60162	2.822000	0.97130	0.650000	0.86243	TCA		0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
TPP2	7174	broad.mit.edu	37	13	103295669	103295669	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:103295669C>A	ENST00000376065.4	+	17	2154	c.2118C>A	c.(2116-2118)ttC>ttA	p.F706L	TPP2_ENST00000376052.3_Missense_Mutation_p.F706L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	706					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.F706L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCATGAATTCTATAAGTTTT	0.373																																					p.F706L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2118A	13						.						99.0	90.0	93.0					13																	103295669		2203	4300	6503	102093670	SO:0001583	missense	7174	exon17			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2118C>A	13.37:g.103295669C>A	ENSP00000365233:p.Phe706Leu	Somatic		Capture	Illumina HiSeq	Phase_I	102093670	NM_003291	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036209	0.54896	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.77	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	L	0.41573	1.285	0.80722	D	1	D	0.53151	0.958	B	0.41202	0.35	T	0.26950	-1.0088	9	0.15499	T	0.54	.	14.2438	0.65975	0.0:0.9274:0.0:0.0726	.	706	P29144	TPP2_HUMAN	L	706	.	ENSP00000365220:F706L	F	+	3	2	TPP2	102093670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.593000	0.61034	1.553000	0.49476	0.585000	0.79938	TTC		0.373	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
MYO16	23026	broad.mit.edu	37	13	109617142	109617142	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:109617142T>C	ENST00000357550.2	+	19	2236	c.2195T>C	c.(2194-2196)aTt>aCt	p.I732T	MYO16_ENST00000251041.5_Missense_Mutation_p.I732T|MYO16_ENST00000356711.2_Missense_Mutation_p.I732T|MYO16_ENST00000457511.2_Missense_Mutation_p.I244T	NM_001198950.1	NP_001185879.1			myosin XVI									p.I732T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCATACAGATTGCTGAGTTT	0.423																																					p.I754T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2261C	13						.						289.0	263.0	272.0					13																	109617142		2203	4300	6503	108415143	SO:0001583	missense	23026	exon20				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2195T>C	13.37:g.109617142T>C	ENSP00000350160:p.Ile732Thr	Somatic		Capture	Illumina HiSeq	Phase_I	108415143	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	6.865	0.528896	0.13127	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.21	1.42	0.22433	Myosin head, motor domain (2);	1.373380	0.05379	U	0.536799	T	0.70753	0.3260	N	0.02960	-0.455	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.003;0.001;0.005	T	0.57665	-0.7772	9	.	.	.	.	8.053	0.30589	0.0:0.317:0.0:0.683	.	244;732;732	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	T	732;732;732;732;520;244	ENSP00000349145:I732T;ENSP00000350160:I732T;ENSP00000251041:I732T;ENSP00000401633:I244T	.	I	+	2	0	MYO16	108415143	0.996000	0.38824	0.006000	0.13384	0.079000	0.17450	2.410000	0.44592	0.315000	0.23110	0.482000	0.46254	ATT		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
MYO16	23026	broad.mit.edu	37	13	109753197	109753197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:109753197C>T	ENST00000357550.2	+	27	3375	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	MYO16_ENST00000356711.2_Nonsense_Mutation_p.R1112*|MYO16-AS2_ENST00000412809.1_RNA|MYO16_ENST00000457511.2_Nonsense_Mutation_p.R624*	NM_001198950.1	NP_001185879.1			myosin XVI									p.R1112*(3)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAGCGATGTCGACTTGTTCT	0.438																																					p.R1134X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3400T	13						.						85.0	75.0	78.0					13																	109753197		2203	4300	6503	108551198	SO:0001587	stop_gained	23026	exon28				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3334C>T	13.37:g.109753197C>T	ENSP00000350160:p.Arg1112*	Somatic		Capture	Illumina HiSeq	Phase_I	108551198	NM_001198950		Nonsense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	38	7.189685	0.98125	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	.	.	.	5.45	5.45	0.79879	.	0.226097	0.21868	U	0.067926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0272	0.80551	0.0:1.0:0.0:0.0	.	.	.	.	X	1112;1112;624	.	.	R	+	1	2	MYO16	108551198	0.800000	0.28916	0.865000	0.33974	0.140000	0.21249	2.984000	0.49353	2.550000	0.86006	0.655000	0.94253	CGA		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
COL4A1	1282	broad.mit.edu	37	13	110864958	110864958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:110864958G>A	ENST00000375820.4	-	5	408	c.287C>T	c.(286-288)cCg>cTg	p.P96L	COL4A1_ENST00000543140.1_Missense_Mutation_p.P96L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	96					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P96L(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGATGCTCCCGGAGGTCCCTG	0.517																																					p.P96L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C287T	13						.						52.0	56.0	55.0					13																	110864958		2203	4300	6503	109662959	SO:0001583	missense	1282	exon5			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.287C>T	13.37:g.110864958G>A	ENSP00000364979:p.Pro96Leu	Somatic		Capture	Illumina HiSeq	Phase_I	109662959	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547900	0.45383	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.96685	-4.09;-4.09	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.76433	2.335	0.80722	D	1	D;D	0.61697	0.988;0.99	P;P	0.52481	0.656;0.7	D	0.96531	0.9393	10	0.40728	T	0.16	.	18.8782	0.92346	0.0:0.0:1.0:0.0	.	96;96	F5H5K0;P02462	.;CO4A1_HUMAN	L	96	ENSP00000364979:P96L;ENSP00000443348:P96L	ENSP00000364973:P96L	P	-	2	0	COL4A1	109662959	1.000000	0.71417	0.907000	0.35723	0.040000	0.13550	8.441000	0.90313	2.526000	0.85167	0.643000	0.83706	CCG		0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
ARHGEF7	8874	broad.mit.edu	37	13	111938574	111938574	+	Silent	SNP	C	C	T	rs137910941	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:111938574C>T	ENST00000375741.2	+	18	2344	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	ARHGEF7_ENST00000375739.2_Silent_p.F648F|ARHGEF7_ENST00000317133.5_Silent_p.F677F|ARHGEF7_ENST00000426073.2_Silent_p.F520F|ARHGEF7_ENST00000375736.4_Silent_p.F520F|ARHGEF7_ENST00000478679.1_Silent_p.F442F|ARHGEF7_ENST00000375737.5_Silent_p.F595F|ARHGEF7_ENST00000375723.1_Silent_p.F520F|ARHGEF7_ENST00000218789.5_Silent_p.F520F|ARHGEF7_ENST00000370623.3_Silent_p.F605F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	698					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F677F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATGAGGAGTTCGCGTCCCGGA	0.547													C|||	19	0.00379393	0.0144	0.0	5008	,	,		16867	0.0		0.0	False		,,,				2504	0.0				p.F648F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1944T	13						.	C	,,,,	20,4386	27.2+/-55.0	0,20,2183	105.0	92.0	96.0		2094,1944,1560,1560,2031	-8.8	0.0	13	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF7	NM_001113511.1,NM_001113512.1,NM_001113513.1,NM_003899.3,NM_145735.2	,,,,	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	,,,,	698/804,648/754,520/647,520/647,677/783	111938574	20,12986	2203	4300	6503	110736575	SO:0001819	synonymous_variant	8874	exon16			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.2094C>T	13.37:g.111938574C>T		Somatic		Capture	Illumina HiSeq	Phase_I	110736575	NM_001113512	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	CCDS45068.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	1.346	-0.592639	0.03799	0.004539	0.0	ENSG00000102606	ENST00000545635	.	.	.	4.6	-8.8	0.00817	.	.	.	.	.	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68157	-0.5483	5	0.72032	D	0.01	.	8.0962	0.30829	0.0:0.4085:0.113:0.4785	.	.	.	.	L	674	.	ENSP00000438673:S674L	S	+	2	0	ARHGEF7	110736575	0.994000	0.37717	0.041000	0.18516	0.028000	0.11728	0.201000	0.17276	-1.961000	0.01016	-1.069000	0.02264	TCG		0.547	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
ATP11A	23250	broad.mit.edu	37	13	113477719	113477719	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:113477719C>A	ENST00000487903.1	+	9	874	c.786C>A	c.(784-786)atC>atA	p.I262I	ATP11A_ENST00000375645.3_Silent_p.I262I|ATP11A_ENST00000283558.8_Silent_p.I262I|ATP11A_ENST00000375630.2_Silent_p.I262I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	262					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I262I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGAGAAAATCTTTGGtaaat	0.418																																					p.I262I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786A	13						.						64.0	65.0	65.0					13																	113477719		2203	4300	6503	112525720	SO:0001819	synonymous_variant	23250	exon9			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.786C>A	13.37:g.113477719C>A		Somatic		Capture	Illumina HiSeq	Phase_I	112525720	NM_015205	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	9.372	1.070679	0.20147	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.35	3.59	0.41128	.	.	.	.	.	T	0.68705	0.3030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65928	-0.6049	4	.	.	.	.	13.7363	0.62819	0.529:0.471:0.0:0.0	.	.	.	.	Y	237	.	.	S	+	2	0	ATP11A	112525720	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	1.603000	0.36794	0.607000	0.29982	0.561000	0.74099	TCT		0.418	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
MCF2L	23263	broad.mit.edu	37	13	113730466	113730466	+	Missense_Mutation	SNP	C	C	A	rs139393934		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:113730466C>A	ENST00000375608.3	+	13	1643	c.1585C>A	c.(1585-1587)Ctc>Atc	p.L529I	MCF2L_ENST00000375604.2_Missense_Mutation_p.L556I|MCF2L_ENST00000442652.2_Missense_Mutation_p.L529I|MCF2L_ENST00000423482.2_Missense_Mutation_p.L497I|MCF2L_ENST00000375601.3_Missense_Mutation_p.L503I|MCF2L_ENST00000375597.4_Missense_Mutation_p.L497I|MCF2L_ENST00000421756.1_Missense_Mutation_p.L503I|MCF2L_ENST00000535094.2_Missense_Mutation_p.L499I|MCF2L_ENST00000397030.1_Missense_Mutation_p.L532I|MCF2L_ENST00000434480.2_Missense_Mutation_p.L505I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	529					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L503I(1)|p.L497I(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAACCAAGATCTCATGGTAAC	0.463																																					p.L503I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1507A	13						.						96.0	81.0	86.0					13																	113730466		2203	4300	6503	112778467	SO:0001583	missense	23263	exon12			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1585C>A	13.37:g.113730466C>A	ENSP00000364758:p.Leu529Ile	Somatic		Capture	Illumina HiSeq	Phase_I	112778467	NM_024979	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.469682|1.469682	0.26423|0.26423	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.36520|.	1.3;1.3;1.25;1.31;1.29;1.31;1.26;1.34;1.3;1.33|.	5.3|5.3	4.46|4.46	0.54185|0.54185	.|.	0.279715|.	0.34725|.	N|.	0.003737|.	T|T	0.54679|0.54679	0.1873|0.1873	M|M	0.65498|0.65498	2.005|2.005	0.26368|0.26368	N|N	0.976931|0.976931	B;B;B;B;D;B|.	0.60575|.	0.429;0.429;0.429;0.046;0.988;0.303|.	B;B;B;B;P;B|.	0.60117|.	0.28;0.28;0.28;0.061;0.869;0.145|.	T|T	0.48399|0.48399	-0.9039|-0.9039	10|5	0.34782|.	T|.	0.22|.	.|.	11.0516|11.0516	0.47894|0.47894	0.0:0.8507:0.0:0.1493|0.0:0.8507:0.0:0.1493	.|.	497;499;556;461;497;529|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	I|Y	529;529;556;532;499;503;503;505;497;497;340|159	ENSP00000364758:L529I;ENSP00000401422:L529I;ENSP00000364754:L556I;ENSP00000380225:L532I;ENSP00000440374:L499I;ENSP00000397285:L503I;ENSP00000364751:L503I;ENSP00000407722:L505I;ENSP00000405639:L497I;ENSP00000364747:L497I|.	ENSP00000364747:L497I|.	L|S	+|+	1|2	0|0	MCF2L|MCF2L	112778467|112778467	1.000000|1.000000	0.71417|0.71417	0.908000|0.908000	0.35775|0.35775	0.236000|0.236000	0.25371|0.25371	2.888000|2.888000	0.48594|0.48594	1.240000|1.240000	0.43803|0.43803	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.463	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
F7	2155	broad.mit.edu	37	13	113768074	113768074	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:113768074C>A	ENST00000375581.3	+	4	335	c.300C>A	c.(298-300)ttC>ttA	p.F100L	F7_ENST00000541084.1_Intron|F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.F78L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	100	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F100L(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGAAGCTGTTCTGGATTTCTT	0.547																																					p.F100L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C300A	13						.						199.0	146.0	164.0					13																	113768074		2203	4300	6503	112816075	SO:0001583	missense	2155	exon4				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.300C>A	13.37:g.113768074C>A	ENSP00000364731:p.Phe100Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112816075	NM_000131	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210782	0.58343	.	.	ENSG00000057593	ENST00000346342;ENST00000375581	D;D	0.99563	-6.17;-6.17	4.58	3.64	0.41730	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.062015	0.64402	D	0.000004	D	0.99612	0.9859	M	0.94063	3.49	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.67725	0.896;0.953	D	0.97750	1.0214	10	0.87932	D	0	.	10.9188	0.47152	0.0:0.8966:0.0:0.1034	.	78;100	P08709-2;P08709	.;FA7_HUMAN	L	78;100	ENSP00000329546:F78L;ENSP00000364731:F100L	ENSP00000329546:F78L	F	+	3	2	F7	112816075	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	0.695000	0.25527	2.363000	0.80096	0.591000	0.81541	TTC		0.547	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131	
F7	2155	broad.mit.edu	37	13	113770002	113770002	+	Silent	SNP	C	C	T	rs139304588		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:113770002C>T	ENST00000375581.3	+	6	494	c.459C>T	c.(457-459)aaC>aaT	p.N153N	F7_ENST00000541084.1_Silent_p.N84N|F7_ENST00000346342.3_Silent_p.N131N	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	153	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.N153N(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TCTGTGTGAACGAGAACGGCG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21038	0.0		0.0	False		,,,				2504	0.0				p.N153N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	13						.	C	,	4,4402	8.1+/-20.4	0,4,2199	51.0	40.0	44.0		459,393	-8.6	0.0	13	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	F7	NM_000131.3,NM_019616.2	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	153/467,131/445	113770002	4,13002	2203	4300	6503	112818003	SO:0001819	synonymous_variant	2155	exon6				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.459C>T	13.37:g.113770002C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112818003	NM_000131	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	CCDS9528.1																																																																																				0.647	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131	
PCID2	55795	broad.mit.edu	37	13	113854748	113854748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:113854748C>T	ENST00000337344.4	-	2	195	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	PCID2_ENST00000375457.2_Missense_Mutation_p.R38Q|PCID2_ENST00000246505.5_Missense_Mutation_p.R40Q|PCID2_ENST00000375479.2_Missense_Mutation_p.R40Q|PCID2_ENST00000375459.1_Missense_Mutation_p.R38Q|PCID2_ENST00000375477.1_Missense_Mutation_p.R40Q	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	40					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.R40Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TACTTGAAGTCGTGGGTTTGC	0.448																																					p.R40Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G119A	13						.						103.0	102.0	102.0					13																	113854748		2203	4300	6503	112902749	SO:0001583	missense	55795	exon2			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.119G>A	13.37:g.113854748C>T	ENSP00000337405:p.Arg40Gln	Somatic		Capture	Illumina HiSeq	Phase_I	112902749	NM_018386	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156245	0.78114	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	5.45	0.79879	.	0.058478	0.64402	D	0.000002	T	0.73063	0.3539	L	0.54323	1.7	0.58432	D	0.999999	D;B	0.76494	0.999;0.449	D;B	0.68943	0.961;0.022	T	0.66069	-0.6015	9	0.10902	T	0.67	-17.9991	18.903	0.92451	0.0:1.0:0.0:0.0	.	40;40	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	Q	40;40;40;40;38;38;40;38;40	.	ENSP00000246505:R40Q	R	-	2	0	PCID2	112902749	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	5.277000	0.65586	2.550000	0.86006	0.655000	0.94253	CGA		0.448	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
DCUN1D2	55208	broad.mit.edu	37	13	114128489	114128489	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:114128489A>C	ENST00000478244.1	-	4	752	c.470T>G	c.(469-471)tTt>tGt	p.F157C	DCUN1D2-AS_ENST00000453584.1_RNA|DCUN1D2_ENST00000332592.3_Missense_Mutation_p.F24C|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.F157C|DCUN1D2-AS_ENST00000414992.1_RNA	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	157	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.							p.F157C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAACTGATAAAAATCTTTAAA	0.443																																					p.F157C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T470G	13						.						165.0	160.0	161.0					13																	114128489		2203	4300	6503	113176490	SO:0001583	missense	55208	exon4			AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.470T>G	13.37:g.114128489A>C	ENSP00000417706:p.Phe157Cys	Somatic		Capture	Illumina HiSeq	Phase_I	113176490	NM_001014283	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410948	0.83340	.	.	ENSG00000150401	ENST00000332592;ENST00000478244;ENST00000375399	T	0.47177	0.85	5.03	5.03	0.67393	Domain of unknown function DUF298 (2);	0.099352	0.64402	D	0.000001	T	0.75759	0.3893	M	0.93939	3.475	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.83223	-0.0067	10	0.87932	D	0	.	14.7635	0.69621	1.0:0.0:0.0:0.0	.	157	Q6PH85	DCNL2_HUMAN	C	24;157;157	ENSP00000417706:F157C	ENSP00000330629:F24C	F	-	2	0	DCUN1D2	113176490	1.000000	0.71417	0.952000	0.39060	0.963000	0.63663	8.458000	0.90364	1.885000	0.54596	0.459000	0.35465	TTT		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																					p.S25S												.	.	0			c.G75A	13						.																																			113644827	SO:0001628	intergenic_variant	348013	exon2																															Unknown.37:g.0C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113644827	NM_182614		Silent	SNP		37																																																																																				0	0								
RASA3	22821	broad.mit.edu	37	13	114795299	114795299	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:114795299T>G	ENST00000334062.7	-	5	558	c.437A>C	c.(436-438)aAg>aCg	p.K146T	RASA3_ENST00000542651.1_Missense_Mutation_p.Q114H|RASA3_ENST00000389544.4_Missense_Mutation_p.K114T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	146	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.K146T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGTGGCGAGCTTGTGGCAGAC	0.612																																					p.K146T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A437C	13						.						127.0	75.0	93.0					13																	114795299		2201	4298	6499	113813401	SO:0001583	missense	22821	exon5				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.437A>C	13.37:g.114795299T>G	ENSP00000335029:p.Lys146Thr	Somatic		Capture	Illumina HiSeq	Phase_I	113813401	NM_007368	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.29|19.29	3.799439|3.799439	0.70567|0.70567	.|.	.|.	ENSG00000185989|ENSG00000185989	ENST00000334062;ENST00000389544|ENST00000542651	T;T|T	0.71103|0.18174	-0.54;-0.54|2.23	4.5|4.5	4.5|4.5	0.54988|0.54988	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.20659|0.20659	0.0497|0.0497	L|L	0.37466|0.37466	1.105|1.105	0.35017|0.35017	D|D	0.75746|0.75746	P|.	0.43352|.	0.804|.	B|.	0.42851|.	0.4|.	T|T	0.24404|0.24404	-1.0161|-1.0161	9|6	.|.	.|.	.|.	.|.	13.0829|13.0829	0.59123|0.59123	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	146|.	Q14644|.	RASA3_HUMAN|.	T|H	146;114|114	ENSP00000335029:K146T;ENSP00000374195:K114T|ENSP00000439008:Q114H	.|.	K|Q	-|-	2|3	0|2	RASA3|RASA3	113813401|113813401	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.919000|0.919000	0.55068|0.55068	6.142000|6.142000	0.71750|0.71750	1.789000|1.789000	0.52484|0.52484	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.612	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
TPTE2	93492	broad.mit.edu	37	13	20039687	20039687	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:20039687C>T	ENST00000400230.2	-	8	574	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	TPTE2_ENST00000390680.2_Missense_Mutation_p.R100Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R66Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R177Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R137Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R66Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R100Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R137Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R100Q(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGTAGAAGTCGAACTAAATG	0.318																																					p.R66Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G197A	13						.						36.0	35.0	35.0					13																	20039687		2200	4299	6499	18937687	SO:0001583	missense	93492	exon7			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.530G>A	13.37:g.20039687C>T	ENSP00000383089:p.Arg177Gln	Somatic		Capture	Illumina HiSeq	Phase_I	18937687	NM_001141968	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.108927	0.37242	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98028	-4.67;-3.61;-4.67;-4.67;-4.67;-4.67;-4.67;-3.61	2.79	0.0431	0.14220	Ion transport (1);	0.072865	0.56097	U	0.000039	D	0.97757	0.9264	M	0.86268	2.805	0.19300	N	0.999972	P;P;D	0.67145	0.493;0.947;0.996	B;B;P	0.60173	0.019;0.268;0.87	D	0.93618	0.6945	9	.	.	.	-5.7066	5.2299	0.15416	0.0:0.5715:0.0:0.4285	.	66;100;177	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	137;66;177;100;100;177;137;66;177;46	ENSP00000372438:R137Q;ENSP00000382974:R66Q;ENSP00000383089:R177Q;ENSP00000255310:R100Q;ENSP00000375098:R100Q;ENSP00000372437:R177Q;ENSP00000372435:R137Q;ENSP00000442218:R66Q	.	R	-	2	0	TPTE2	18937687	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	0.683000	0.25349	-0.044000	0.13491	-0.373000	0.07131	CGA		0.318	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
TPTE2	93492	broad.mit.edu	37	13	20067596	20067596	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:20067596C>T	ENST00000400230.2	-	2	101	c.57G>A	c.(55-57)gcG>gcA	p.A19A	TPTE2_ENST00000390680.2_Silent_p.A19A|TPTE2_ENST00000457266.2_Silent_p.A19A|TPTE2_ENST00000382977.4_Silent_p.A19A|TPTE2_ENST00000382978.1_Silent_p.A19A|TPTE2_ENST00000400103.2_Silent_p.A19A|TPTE2_ENST00000255310.6_Silent_p.A19A|TPTE2_ENST00000382975.4_Silent_p.A19A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	19					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A19A(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCTTTCTTTCGCAGGTGCCT	0.378																																					p.A19A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G57A	13						.						139.0	124.0	129.0					13																	20067596		2203	4300	6503	18965596	SO:0001819	synonymous_variant	93492	exon4			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.57G>A	13.37:g.20067596C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18965596	NM_001141968	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																				0.378	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
XPO4	64328	broad.mit.edu	37	13	21357898	21357898	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:21357898A>C	ENST00000255305.6	-	23	3490	c.3419T>G	c.(3418-3420)tTt>tGt	p.F1140C	XPO4_ENST00000400602.2_Missense_Mutation_p.F1140C			Q9C0E2	XPO4_HUMAN	exportin 4	1140					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F1113C(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATTTGCCATAAATTCTTCTAA	0.408																																					p.F1140C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3419G	13						.						170.0	161.0	164.0					13																	21357898		1913	4136	6049	20255898	SO:0001583	missense	64328	exon23			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3419T>G	13.37:g.21357898A>C	ENSP00000255305:p.Phe1140Cys	Somatic		Capture	Illumina HiSeq	Phase_I	20255898	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157735	0.78114	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.57107	0.42;0.42	5.84	5.84	0.93424	.	0.161113	0.56097	D	0.000029	T	0.73118	0.3546	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76503	-0.2935	10	0.87932	D	0	-10.3463	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1140	Q9C0E2	XPO4_HUMAN	C	1140	ENSP00000383444:F1140C;ENSP00000255305:F1140C	ENSP00000255305:F1140C	F	-	2	0	XPO4	20255898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.954000	0.93051	2.228000	0.72767	0.533000	0.62120	TTT		0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
SACS	26278	broad.mit.edu	37	13	23906348	23906348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:23906348C>A	ENST00000382292.3	-	9	11940	c.11667G>T	c.(11665-11667)caG>caT	p.Q3889H	SACS_ENST00000402364.1_Missense_Mutation_p.Q3139H|SACS_ENST00000382298.3_Missense_Mutation_p.Q3889H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3889					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q3742H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAATCATTCTGTAGACTCC	0.423																																					p.Q3889H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11667T	13						.						171.0	158.0	163.0					13																	23906348		2203	4299	6502	22804348	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11667G>T	13.37:g.23906348C>A	ENSP00000371729:p.Gln3889His	Somatic		Capture	Illumina HiSeq	Phase_I	22804348	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	9.692	1.152249	0.21371	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.13;-2.28;-2.13	5.82	-3.27	0.05048	.	0.055090	0.64402	D	0.000001	T	0.73001	0.3531	N	0.12182	0.205	0.26085	N	0.981036	B	0.18461	0.028	B	0.15052	0.012	T	0.56323	-0.7998	10	0.37606	T	0.19	.	14.9805	0.71309	0.0:0.3656:0.0:0.6344	.	3889	Q9NZJ4	SACS_HUMAN	H	3889;3139;3889	ENSP00000371729:Q3889H;ENSP00000385844:Q3139H;ENSP00000371735:Q3889H	ENSP00000371729:Q3889H	Q	-	3	2	SACS	22804348	0.025000	0.19082	0.678000	0.29963	0.636000	0.38137	-0.870000	0.04228	-0.645000	0.05458	-0.150000	0.13652	CAG		0.423	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23910439	23910439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:23910439C>A	ENST00000382292.3	-	9	7849	c.7576G>T	c.(7576-7578)Gaa>Taa	p.E2526*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1776*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E2526*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2526					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E2379*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTCAATTTTTCTTTCTGCCCA	0.398																																					p.E2526X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7576T	13						.						116.0	113.0	114.0					13																	23910439		2203	4300	6503	22808439	SO:0001587	stop_gained	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7576G>T	13.37:g.23910439C>A	ENSP00000371729:p.Glu2526*	Somatic		Capture	Illumina HiSeq	Phase_I	22808439	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	57	27.678880	0.99972	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8766	0.96875	0.0:1.0:0.0:0.0	.	.	.	.	X	2526;1776;2526	.	ENSP00000371729:E2526X	E	-	1	0	SACS	22808439	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.484000	0.81180	2.698000	0.92095	0.561000	0.74099	GAA		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23912095	23912095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:23912095C>A	ENST00000382292.3	-	9	6193	c.5920G>T	c.(5920-5922)Gaa>Taa	p.E1974*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1224*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E1974*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1974					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGGTCAGTTCTTTCCCTTTT	0.368																																					p.E1974X												.	.	0			c.G5920T	13						.						61.0	63.0	63.0					13																	23912095		2203	4300	6503	22810095	SO:0001587	stop_gained	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5920G>T	13.37:g.23912095C>A	ENSP00000371729:p.Glu1974*	None		Capture	Illumina HiSeq	Phase_I	22810095	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	55	23.830559	0.99957	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.93	5.1	0.69264	.	0.158551	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.1056	0.72319	0.0:0.9324:0.0:0.0676	.	.	.	.	X	1974;1224;1974	.	ENSP00000371729:E1974X	E	-	1	0	SACS	22810095	1.000000	0.71417	0.748000	0.31131	0.113000	0.19764	7.487000	0.81328	1.526000	0.49068	-0.229000	0.12294	GAA		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
ATP12A	479	broad.mit.edu	37	13	25259487	25259487	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:25259487G>T	ENST00000381946.3	+	3	371	c.204G>T	c.(202-204)gaG>gaT	p.E68D	ATP12A_ENST00000218548.6_Missense_Mutation_p.E68D			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	68					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.E68D(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AATTGGAAGAGAAATATGGCA	0.478																																					p.E68D	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G204T	13						.						116.0	113.0	114.0					13																	25259487		2203	4300	6503	24157487	SO:0001583	missense	479	exon3			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.204G>T	13.37:g.25259487G>T	ENSP00000371372:p.Glu68Asp	Somatic		Capture	Illumina HiSeq	Phase_I	24157487	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653318	0.14580	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79749	-1.3;-1.3	5.24	1.08	0.20341	ATPase, P-type cation-transporter, N-terminal (2);	1.616830	0.03275	N	0.185312	T	0.71600	0.3359	L	0.37850	1.14	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.54029	-0.8354	10	0.48119	T	0.1	.	3.6155	0.08075	0.2579:0.0:0.397:0.3451	.	68;68	P54707-2;P54707	.;AT12A_HUMAN	D	68	ENSP00000218548:E68D;ENSP00000371372:E68D	ENSP00000218548:E68D	E	+	3	2	ATP12A	24157487	0.000000	0.05858	0.205000	0.23548	0.052000	0.14988	-0.423000	0.07034	0.226000	0.20979	0.655000	0.94253	GAG		0.478	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	broad.mit.edu	37	13	25283563	25283563	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:25283563G>A	ENST00000381946.3	+	18	2722	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R858H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	852					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R852H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AGGAAGCCTCGCCACAAGAAT	0.562																																					p.R858H	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2573A	13						.						77.0	72.0	74.0					13																	25283563		2203	4300	6503	24181563	SO:0001583	missense	479	exon18			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2555G>A	13.37:g.25283563G>A	ENSP00000371372:p.Arg852His	Somatic		Capture	Illumina HiSeq	Phase_I	24181563	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419302	0.96092	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97161	-4.27;-4.27	5.92	5.92	0.95590	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99297	1.0900	10	0.87932	D	0	.	17.8019	0.88590	0.0:0.0:1.0:0.0	.	858;852	P54707-2;P54707	.;AT12A_HUMAN	H	858;852	ENSP00000218548:R858H;ENSP00000371372:R852H	ENSP00000218548:R858H	R	+	2	0	ATP12A	24181563	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.900000	0.87376	2.795000	0.96236	0.655000	0.94253	CGC		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
RNF17	56163	broad.mit.edu	37	13	25374666	25374666	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:25374666G>T	ENST00000255324.5	+	13	1804	c.1752G>T	c.(1750-1752)caG>caT	p.Q584H	RNF17_ENST00000381921.1_Missense_Mutation_p.Q584H|RNF17_ENST00000255325.6_Missense_Mutation_p.Q584H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	584					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q584H(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGTTCCACAGAATTCAGTAA	0.373																																					p.Q584H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1752T	13						.						119.0	114.0	116.0					13																	25374666		2203	4300	6503	24272666	SO:0001583	missense	56163	exon13			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1752G>T	13.37:g.25374666G>T	ENSP00000255324:p.Gln584His	Somatic		Capture	Illumina HiSeq	Phase_I	24272666	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	7.109	0.575691	0.13623	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.23950	1.88;1.88;1.88	4.44	-0.952	0.10366	.	0.718915	0.12618	N	0.453246	T	0.16128	0.0388	L	0.51422	1.61	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.20240	-1.0281	10	0.15952	T	0.53	.	1.6851	0.02840	0.1679:0.1244:0.3773:0.3305	.	584;584	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	H	584;584;443;585	ENSP00000255324:Q584H;ENSP00000371346:Q584H;ENSP00000255325:Q585H	ENSP00000255324:Q584H	Q	+	3	2	RNF17	24272666	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	0.936000	0.28938	-0.090000	0.12462	0.462000	0.41574	CAG		0.373	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RNF17	56163	broad.mit.edu	37	13	25433165	25433165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:25433165G>T	ENST00000255324.5	+	26	3689	c.3637G>T	c.(3637-3639)Gaa>Taa	p.E1213*	RNF17_ENST00000339524.3_Nonsense_Mutation_p.E265*|RNF17_ENST00000381921.1_Nonsense_Mutation_p.E1213*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1213					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1213*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGACAAATGAAATTCAAAG	0.308																																					p.E1209X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3625T	13						.						41.0	43.0	42.0					13																	25433165		2203	4300	6503	24331165	SO:0001587	stop_gained	56163	exon26			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3637G>T	13.37:g.25433165G>T	ENSP00000255324:p.Glu1213*	Somatic		Capture	Illumina HiSeq	Phase_I	24331165	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Nonsense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	42	9.257956	0.99117	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	.	.	.	5.14	5.14	0.70334	.	0.066937	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-24.504	17.8921	0.88876	0.0:0.0:1.0:0.0	.	.	.	.	X	1213;1213;537;265	.	ENSP00000255324:E1213X	E	+	1	0	RNF17	24331165	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.713000	0.74686	2.832000	0.97577	0.655000	0.94253	GAA		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RPL21	6144	broad.mit.edu	37	13	27827958	27827958	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:27827958C>A	ENST00000311549.6	+	2	334	c.45C>A	c.(43-45)ttC>ttA	p.F15L	RPL21_ENST00000326092.4_Missense_Mutation_p.F15L|SNORA27_ENST00000384323.1_RNA|RPL21_ENST00000272274.4_Missense_Mutation_p.F15L|SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000319826.4_Missense_Mutation_p.F15L	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	15			F -> S (in dbSNP:rs17085349).		cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F15L(1)		large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		GATATATGTTCTCTAGGCCTT	0.413																																					p.F15L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C45A	13						.						83.0	75.0	78.0					13																	27827958		2203	4300	6503	26725958	SO:0001583	missense	6144	exon2			AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"""L ribosomal proteins"""	10313	protein-coding gene	gene with protein product	"""60S ribosomal protein L21"""	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.45C>A	13.37:g.27827958C>A	ENSP00000346027:p.Phe15Leu	Somatic		Capture	Illumina HiSeq	Phase_I	26725958	NM_000982	Q16699	Missense_Mutation	SNP	ENST00000311549.6	37	CCDS9320.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045394	0.55110	.	.	ENSG00000122026	ENST00000311549;ENST00000272274;ENST00000319826;ENST00000326092	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.31	1.41	0.22369	Translation protein SH3-like (1);	0.000000	0.85682	U	0.000000	T	0.50582	0.1624	L	0.55743	1.74	0.58432	D	0.999998	P	0.46578	0.88	B	0.42214	0.38	T	0.52177	-0.8610	10	0.66056	D	0.02	.	9.8876	0.41270	0.0:0.7517:0.0:0.2483	.	15	P46778	RL21_HUMAN	L	15	ENSP00000346027:F15L;ENSP00000351021:F15L;ENSP00000370574:F15L;ENSP00000370569:F15L	ENSP00000351021:F15L	F	+	3	2	RPL21	26725958	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.346000	0.33964	0.332000	0.23536	-0.254000	0.11334	TTC		0.413	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982	
FLT1	2321	broad.mit.edu	37	13	28877417	28877417	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:28877417C>T	ENST00000282397.4	-	30	4155	c.3904G>A	c.(3904-3906)Gaa>Aaa	p.E1302K	FLT1_ENST00000543394.1_Missense_Mutation_p.E325K|FLT1_ENST00000540678.1_Missense_Mutation_p.E520K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1302					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.E1302K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGCTTGCCTTCGCTGACGTGC	0.557																																					p.E1302K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3904A	13						.						90.0	78.0	82.0					13																	28877417		2203	4300	6503	27775417	SO:0001583	missense	2321	exon30			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3904G>A	13.37:g.28877417C>T	ENSP00000282397:p.Glu1302Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27775417	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	6.504	0.461171	0.12342	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.78003	-0.9;-1.13;-1.14	4.41	-7.45	0.01374	.	1.714370	0.02858	N	0.129996	T	0.54919	0.1888	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44298	-0.9337	10	0.26408	T	0.33	.	9.0105	0.36137	0.0:0.5649:0.2704:0.1647	.	1302	P17948	VGFR1_HUMAN	K	1302;325;520	ENSP00000282397:E1302K;ENSP00000437841:E325K;ENSP00000443311:E520K	ENSP00000282397:E1302K	E	-	1	0	FLT1	27775417	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.250000	0.08830	-0.961000	0.03609	-0.484000	0.04775	GAA		0.557	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	broad.mit.edu	37	13	28959071	28959071	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:28959071C>T	ENST00000282397.4	-	14	2318	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	FLT1_ENST00000541932.1_Silent_p.E689E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	689	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.E689E(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATCTGAGGCTCGGGGACAC	0.433																																					p.E689E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2067A	13						.						186.0	174.0	178.0					13																	28959071		2203	4300	6503	27857071	SO:0001819	synonymous_variant	2321	exon14			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2067G>A	13.37:g.28959071C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27857071	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																				0.433	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
USPL1	10208	broad.mit.edu	37	13	31231710	31231710	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:31231710G>T	ENST00000255304.4	+	9	1838	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	499	USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.R499I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATTTGGGAAAGAAAAATATCC	0.388																																					p.R499I	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496T	13						.						101.0	101.0	101.0					13																	31231710		2203	4300	6503	30129710	SO:0001583	missense	10208	exon9			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1496G>T	13.37:g.31231710G>T	ENSP00000255304:p.Arg499Ile	Somatic		Capture	Illumina HiSeq	Phase_I	30129710	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829876	0.71258	.	.	ENSG00000132952	ENST00000255304	T	0.08634	3.07	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.369246	0.35013	N	0.003509	T	0.21509	0.0518	L	0.59436	1.845	0.46096	D	0.998867	D	0.67145	0.996	D	0.65874	0.939	T	0.00094	-1.2078	10	0.87932	D	0	-15.2801	9.8922	0.41296	0.1555:0.0:0.8445:0.0	.	499	Q5W0Q7	USPL1_HUMAN	I	499	ENSP00000255304:R499I	ENSP00000255304:R499I	R	+	2	0	USPL1	30129710	1.000000	0.71417	0.995000	0.50966	0.866000	0.49608	3.423000	0.52756	2.677000	0.91161	0.561000	0.74099	AGA		0.388	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
HSPH1	10808	broad.mit.edu	37	13	31725253	31725253	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:31725253C>A	ENST00000320027.5	-	7	1083	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	HSPH1_ENST00000380406.5_Nonsense_Mutation_p.E206*|HSPH1_ENST00000380405.4_Nonsense_Mutation_p.E247*|HSPH1_ENST00000429785.2_Nonsense_Mutation_p.E66*|HSPH1_ENST00000445273.2_Nonsense_Mutation_p.E249*	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	247					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E247*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GTTTTAAATTCTGCACAAAAA	0.348																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	13						.						108.0	106.0	107.0					13																	31725253		2203	4300	6503	30623253	SO:0001587	stop_gained	10808	exon7			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.739G>T	13.37:g.31725253C>A	ENSP00000318687:p.Glu247*	Somatic		Capture	Illumina HiSeq	Phase_I	30623253	NM_006644	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Nonsense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284687	0.95517	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	.	.	.	5.68	5.68	0.88126	.	0.055173	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-33.0838	20.1554	0.98111	0.0:1.0:0.0:0.0	.	.	.	.	X	247;247;206;249;66;298	.	ENSP00000318687:E247X	E	-	1	0	HSPH1	30623253	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	7.445000	0.80570	2.838000	0.97847	0.591000	0.81541	GAA		0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1		
B3GALTL	145173	broad.mit.edu	37	13	31850891	31850891	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:31850891A>C	ENST00000343307.4	+	10	982	c.833A>C	c.(832-834)aAa>aCa	p.K278T	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	278					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.K278T(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ACATGCAAGAAATTTCATGGT	0.313																																					p.K278T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A833C	13						.						143.0	154.0	150.0					13																	31850891		2203	4300	6503	30748891	SO:0001583	missense	145173	exon10			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.833A>C	13.37:g.31850891A>C	ENSP00000343002:p.Lys278Thr	Somatic		Capture	Illumina HiSeq	Phase_I	30748891	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750566	0.69533	.	.	ENSG00000187676	ENST00000343307	T	0.69926	-0.44	5.93	4.75	0.60458	.	0.092382	0.64402	D	0.000001	D	0.82407	0.5030	M	0.87381	2.88	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.83751	0.0209	10	0.59425	D	0.04	-26.6107	10.974	0.47454	0.9259:0.0:0.0741:0.0	.	278	Q6Y288	B3GLT_HUMAN	T	278	ENSP00000343002:K278T	ENSP00000343002:K278T	K	+	2	0	B3GALTL	30748891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.302000	0.65733	1.063000	0.40649	0.455000	0.32223	AAA		0.313	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	
B3GALTL	145173	broad.mit.edu	37	13	31903690	31903690	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:31903690C>T	ENST00000343307.4	+	15	1531	c.1382C>T	c.(1381-1383)tCg>tTg	p.S461L		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	461					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.S461L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GTTCCCATATCGTTCCACAAA	0.453																																					p.S461L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1382T	13						.						141.0	133.0	135.0					13																	31903690		2203	4300	6503	30801690	SO:0001583	missense	145173	exon15			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1382C>T	13.37:g.31903690C>T	ENSP00000343002:p.Ser461Leu	Somatic		Capture	Illumina HiSeq	Phase_I	30801690	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595822	0.96602	.	.	ENSG00000187676	ENST00000343307	T	0.74632	-0.86	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89866	0.6839	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91044	0.4873	10	0.72032	D	0.01	-22.0952	20.1663	0.98152	0.0:1.0:0.0:0.0	.	461	Q6Y288	B3GLT_HUMAN	L	461	ENSP00000343002:S461L	ENSP00000343002:S461L	S	+	2	0	B3GALTL	30801690	1.000000	0.71417	0.266000	0.24541	0.994000	0.84299	7.506000	0.81665	2.773000	0.95371	0.585000	0.79938	TCG		0.453	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	
RXFP2	122042	broad.mit.edu	37	13	32376345	32376345	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:32376345C>A	ENST00000298386.2	+	18	2139	c.2068C>A	c.(2068-2070)Ctc>Atc	p.L690I	RXFP2_ENST00000380314.1_Missense_Mutation_p.L666I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	690					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.L690I(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GAATCCAATCCTCTATACTCT	0.333																																					p.L666I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1996A	13						.						89.0	89.0	89.0					13																	32376345		2203	4300	6503	31274345	SO:0001583	missense	122042	exon17			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2068C>A	13.37:g.32376345C>A	ENSP00000298386:p.Leu690Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31274345	NM_001166058	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119598	0.77323	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.26067	1.76;1.76	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.55743	1.74	0.53688	D	0.999971	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.37820	-0.9689	10	0.62326	D	0.03	.	18.3561	0.90357	0.0:1.0:0.0:0.0	.	666;690	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	I	666;690	ENSP00000369670:L666I;ENSP00000298386:L690I	ENSP00000298386:L690I	L	+	1	0	RXFP2	31274345	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.354000	0.59417	2.693000	0.91896	0.655000	0.94253	CTC		0.333	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
FRY	10129	broad.mit.edu	37	13	32691601	32691601	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:32691601A>C	ENST00000380250.3	+	4	951	c.455A>C	c.(454-456)aAa>aCa	p.K152T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	152						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K152T(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAAGCAATAAATCAAAAAGG	0.333																																					p.K152T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A455C	13						.						158.0	150.0	153.0					13																	32691601		1888	4116	6004	31589601	SO:0001583	missense	10129	exon4			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.455A>C	13.37:g.32691601A>C	ENSP00000369600:p.Lys152Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31589601	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390504	0.82902	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.25085	1.82	5.13	5.13	0.70059	.	0.052893	0.85682	D	0.000000	T	0.41627	0.1167	M	0.62016	1.91	0.80722	D	1	D	0.58620	0.983	P	0.58130	0.833	T	0.15925	-1.0420	10	0.21540	T	0.41	.	15.2363	0.73432	1.0:0.0:0.0:0.0	.	152	Q5TBA9	FRY_HUMAN	T	152;149	ENSP00000369600:K152T	ENSP00000369600:K152T	K	+	2	0	FRY	31589601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.807000	0.91935	2.050000	0.60909	0.533000	0.62120	AAA		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32745193	32745193	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:32745193A>C	ENST00000380250.3	+	18	2433	c.1937A>C	c.(1936-1938)aAt>aCt	p.N646T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	646						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.N646T(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGCACAAAATTCTCTTCAG	0.363																																					p.N646T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1937C	13						.						145.0	136.0	139.0					13																	32745193		1860	4099	5959	31643193	SO:0001583	missense	10129	exon18			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1937A>C	13.37:g.32745193A>C	ENSP00000369600:p.Asn646Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31643193	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636360	0.47049	.	.	ENSG00000073910	ENST00000380250	T	0.64438	-0.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	N	0.21194	0.64	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.41395	-0.9511	10	0.20519	T	0.43	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	646	Q5TBA9	FRY_HUMAN	T	646	ENSP00000369600:N646T	ENSP00000369600:N646T	N	+	2	0	FRY	31643193	1.000000	0.71417	0.611000	0.29010	0.814000	0.46013	8.844000	0.92147	2.266000	0.75297	0.528000	0.53228	AAT		0.363	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
PDS5B	23047	broad.mit.edu	37	13	33306319	33306319	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:33306319G>A	ENST00000315596.10	+	20	2391	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	735					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A735A(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GTATCCATGCGATATTTTCTA	0.313																																					p.A735A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2205A	13						.						73.0	69.0	70.0					13																	33306319		1802	4065	5867	32204319	SO:0001819	synonymous_variant	23047	exon20			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2205G>A	13.37:g.33306319G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32204319	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																				0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
KL	9365	broad.mit.edu	37	13	33629245	33629245	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:33629245C>T	ENST00000380099.3	+	3	1400	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.F157F	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	464	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.F464F(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGGATGGTTTCGAGTGGCACA	0.512																																					p.F464F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1392T	13						.						193.0	155.0	168.0					13																	33629245		2203	4300	6503	32527245	SO:0001819	synonymous_variant	9365	exon3			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1392C>T	13.37:g.33629245C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32527245	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																				0.512	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
NBEA	26960	broad.mit.edu	37	13	35644979	35644979	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:35644979A>G	ENST00000400445.3	+	10	2095	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	NBEA_ENST00000379939.2_Missense_Mutation_p.T521A|NBEA_ENST00000310336.4_Missense_Mutation_p.T521A|NBEA_ENST00000540320.1_Missense_Mutation_p.T521A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	521					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.T521A(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCAAGTGGAAACAACTGTCTG	0.363																																					p.T521A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1561G	13						.						127.0	119.0	122.0					13																	35644979		2203	4300	6503	34542979	SO:0001583	missense	26960	exon10			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1561A>G	13.37:g.35644979A>G	ENSP00000383295:p.Thr521Ala	Somatic		Capture	Illumina HiSeq	Phase_I	34542979	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051105	0.19827	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.36	5.36	0.76844	.	0.296711	0.32372	N	0.006191	T	0.26629	0.0651	N	0.17474	0.49	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.09684	-1.0663	10	0.08599	T	0.76	.	15.6526	0.77110	1.0:0.0:0.0:0.0	.	521	Q5T321	.	A	521	ENSP00000440951:T521A;ENSP00000383295:T521A;ENSP00000369271:T521A;ENSP00000308534:T521A	ENSP00000308534:T521A	T	+	1	0	NBEA	34542979	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.170000	0.58229	2.169000	0.68431	0.374000	0.22700	ACA		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	36241662	36241662	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:36241662T>G	ENST00000400445.3	+	56	9087	c.8553T>G	c.(8551-8553)atT>atG	p.I2851M	NBEA_ENST00000537702.1_Missense_Mutation_p.I644M|NBEA_ENST00000379939.2_Missense_Mutation_p.I2848M|NBEA_ENST00000310336.4_Missense_Mutation_p.I2851M|NBEA_ENST00000540320.1_Missense_Mutation_p.I2851M|NBEA_ENST00000379922.3_Missense_Mutation_p.I429M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2851					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.I2851M(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTCAGCATTAATGGGAAAC	0.413																																					p.I2851M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8553G	13						.						187.0	182.0	183.0					13																	36241662		1872	4113	5985	35139662	SO:0001583	missense	26960	exon56			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8553T>G	13.37:g.36241662T>G	ENSP00000383295:p.Ile2851Met	Somatic		Capture	Illumina HiSeq	Phase_I	35139662	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352435	0.41700	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.73	-0.842	0.10748	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.42245	1.32	0.58432	D	0.99999	P;B;B	0.37061	0.58;0.171;0.406	B;B;B	0.31495	0.131;0.124;0.108	T	0.02813	-1.1107	10	0.56958	D	0.05	.	6.5369	0.22359	0.1312:0.464:0.0:0.4047	.	2851;429;2848	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	M	2851;2851;2848;2851;1480;429;644;429	ENSP00000440951:I2851M;ENSP00000383295:I2851M;ENSP00000369271:I2848M;ENSP00000308534:I2851M;ENSP00000440233:I644M;ENSP00000369254:I429M	ENSP00000308534:I2851M	I	+	3	3	NBEA	35139662	0.988000	0.35896	0.997000	0.53966	0.995000	0.86356	0.163000	0.16520	-0.082000	0.12640	-0.250000	0.11733	ATT		0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
SOHLH2	54937	broad.mit.edu	37	13	36743178	36743178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:36743178G>A	ENST00000379881.3	-	11	1359	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.A501V|SOHLH2_ENST00000554962.1_Missense_Mutation_p.A501V	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	424					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A424V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTTTTAATACGCCCAAAACTG	0.383																																					p.A424V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1271T	13						.						143.0	140.0	141.0					13																	36743178		2203	4300	6503	35641178	SO:0001583	missense	54937	exon11			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1271C>T	13.37:g.36743178G>A	ENSP00000369210:p.Ala424Val	Somatic		Capture	Illumina HiSeq	Phase_I	35641178	NM_017826	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246239	0.80024	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.37915	1.17;1.17;1.17	4.5	4.5	0.54988	.	0.482752	0.17514	N	0.171484	T	0.51702	0.1690	L	0.51422	1.61	0.28282	N	0.923954	D;D	0.89917	0.999;1.0	D;D	0.67548	0.92;0.952	T	0.44498	-0.9324	10	0.72032	D	0.01	-6.1207	12.8846	0.58036	0.0:0.0:1.0:0.0	.	501;424	B4DX90;Q9NX45	.;SOLH2_HUMAN	V	424;501;501	ENSP00000369210:A424V;ENSP00000451542:A501V;ENSP00000421868:A501V	ENSP00000421868:A501V	A	-	2	0	CCDC169-SOHLH2;SOHLH2	35641178	0.989000	0.36119	1.000000	0.80357	0.901000	0.52897	2.387000	0.44389	2.491000	0.84063	0.563000	0.77884	GCG		0.383	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SOHLH2	54937	broad.mit.edu	37	13	36748698	36748698	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:36748698C>T	ENST00000379881.3	-	8	884	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.E343K|SOHLH2_ENST00000554962.1_Missense_Mutation_p.E343K	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	266					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E266K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGAAGTGCTTCTGTAATCTAA	0.358																																					p.E266K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796A	13						.						170.0	168.0	169.0					13																	36748698		2203	4300	6503	35646698	SO:0001583	missense	54937	exon8			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.796G>A	13.37:g.36748698C>T	ENSP00000369210:p.Glu266Lys	Somatic		Capture	Illumina HiSeq	Phase_I	35646698	NM_017826	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228622	0.39399	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.30714	1.52;1.52;1.52	5.41	4.44	0.53790	Helix-loop-helix DNA-binding (1);	0.203502	0.34932	N	0.003578	T	0.22781	0.0550	L	0.45581	1.43	0.28473	N	0.915302	B;B	0.25235	0.121;0.046	B;B	0.17722	0.019;0.011	T	0.06643	-1.0815	10	0.36615	T	0.2	-18.9079	6.0934	0.20007	0.0:0.8413:0.0:0.1587	.	343;266	B4DX90;Q9NX45	.;SOLH2_HUMAN	K	266;343;343	ENSP00000369210:E266K;ENSP00000451542:E343K;ENSP00000421868:E343K	ENSP00000421868:E343K	E	-	1	0	CCDC169-SOHLH2;SOHLH2	35646698	0.442000	0.25633	0.993000	0.49108	0.715000	0.41141	0.961000	0.29267	2.549000	0.85964	0.650000	0.86243	GAA		0.358	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SOHLH2	54937	broad.mit.edu	37	13	36764118	36764118	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:36764118G>T	ENST00000379881.3	-	6	694	c.606C>A	c.(604-606)atC>atA	p.I202I	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I279I|SOHLH2_ENST00000317764.6_Silent_p.I202I|SOHLH2_ENST00000554962.1_Silent_p.I279I	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	202	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I202I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAAGAAGAGAGATCTTTTTGT	0.313																																					p.I202I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606A	13						.						104.0	105.0	105.0					13																	36764118		2202	4300	6502	35662118	SO:0001819	synonymous_variant	54937	exon6			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.606C>A	13.37:g.36764118G>T		Somatic		Capture	Illumina HiSeq	Phase_I	35662118	NM_017826	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	CCDS9355.1																																																																																				0.313	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SERTM1	400120	broad.mit.edu	37	13	37269237	37269237	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:37269237T>A	ENST00000315190.3	+	2	468	c.22T>A	c.(22-24)Tca>Aca	p.S8T		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	8						integral component of membrane (GO:0016021)		p.S8T(1)									TGACACTTCCTCAGGATTTTC	0.478																																					p.S8T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T22A	13						.						110.0	106.0	107.0					13																	37269237		2203	4300	6503	36167237	SO:0001583	missense	400120	exon2				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.22T>A	13.37:g.37269237T>A	ENSP00000325776:p.Ser8Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36167237	NM_203451	Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	T	8.829	0.939339	0.18281	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.1	3.88	0.44766	.	0.356855	0.28595	N	0.014785	T	0.26159	0.0638	N	0.14661	0.345	0.25491	N	0.987642	B	0.02656	0.0	B	0.01281	0.0	T	0.20739	-1.0266	9	0.66056	D	0.02	-10.2729	10.2438	0.43328	0.0:0.0:0.3206:0.6794	.	8	A2A2V5	SRTM1_HUMAN	T	8	.	ENSP00000325776:S8T	S	+	1	0	SERTM1	36167237	0.998000	0.40836	0.058000	0.19502	0.006000	0.05464	3.108000	0.50337	0.735000	0.32537	0.460000	0.39030	TCA		0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451	
SUPT20H	55578	broad.mit.edu	37	13	37593528	37593528	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:37593528G>T	ENST00000350612.6	-	22	2043	c.1823C>A	c.(1822-1824)cCa>cAa	p.P608Q	SUPT20H_ENST00000475892.1_Missense_Mutation_p.P687Q|SUPT20H_ENST00000356185.3_Missense_Mutation_p.P609Q|SUPT20H_ENST00000464744.1_Missense_Mutation_p.P609Q|SUPT20H_ENST00000360252.4_Missense_Mutation_p.P609Q	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	608					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.P608Q(1)									TAAACCAAATGGAACACCTGT	0.249																																					p.P609Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1826A	13						.						74.0	85.0	82.0					13																	37593528		2201	4294	6495	36491528	SO:0001583	missense	55578	exon22			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1823C>A	13.37:g.37593528G>T	ENSP00000218894:p.Pro608Gln	Somatic		Capture	Illumina HiSeq	Phase_I	36491528	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.976|7.976	0.750051|0.750051	0.15778|0.15778	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000469488|ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	.|T;T;T;T;T	.|0.42900	.|0.96;0.99;1.54;0.96;0.96	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.193205	.|0.45606	.|D	.|0.000345	T|T	0.44286|0.44286	0.1286|0.1286	N|N	0.25286|0.25286	0.73|0.73	0.80722|0.80722	D|D	1|1	.|D;B;B;B;B	.|0.62365	.|0.991;0.035;0.122;0.035;0.122	.|P;B;B;B;B	.|0.60949	.|0.881;0.014;0.032;0.014;0.032	T|T	0.15378|0.15378	-1.0439|-1.0439	5|10	.|0.02654	.|T	.|1	-2.583|-2.583	19.1051|19.1051	0.93291|0.93291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|687;609;609;608;608	.|E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.|.;.;.;FA48A_HUMAN;.	N|Q	163|609;687;608;609;608;609	.|ENSP00000353388:P609Q;ENSP00000417510:P687Q;ENSP00000218894:P608Q;ENSP00000348512:P609Q;ENSP00000419754:P609Q	.|ENSP00000218894:P608Q	H|P	-|-	1|2	0|0	FAM48A|FAM48A	36491528|36491528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.059000|6.059000	0.71133|0.71133	2.529000|2.529000	0.85273|0.85273	0.585000|0.585000	0.79938|0.79938	CAT|CCA		0.249	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
CSNK1A1L	122011	broad.mit.edu	37	13	37679085	37679085	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:37679085G>T	ENST00000379800.3	-	1	718	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F103L(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTCTTGAACAGAAATTAAAGA	0.448																																					p.F103L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C309A	13						.						115.0	111.0	112.0					13																	37679085		2203	4300	6503	36577085	SO:0001583	missense	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.309C>A	13.37:g.37679085G>T	ENSP00000369126:p.Phe103Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36577085	NM_145203	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297548	0.23650	.	.	ENSG00000180138	ENST00000379800	T	0.63417	-0.04	1.01	0.108	0.14548	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095373	0.64402	D	0.000001	T	0.43344	0.1243	L	0.31294	0.92	0.40291	D	0.978501	B	0.15473	0.013	B	0.22386	0.039	T	0.20940	-1.0260	10	0.87932	D	0	.	3.7768	0.08663	0.4986:0.0:0.5014:0.0	.	103	Q8N752	KC1AL_HUMAN	L	103	ENSP00000369126:F103L	ENSP00000369126:F103L	F	-	3	2	CSNK1A1L	36577085	1.000000	0.71417	0.352000	0.25734	0.878000	0.50629	1.320000	0.33666	-0.008000	0.14320	-0.258000	0.10820	TTC		0.448	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
POSTN	10631	broad.mit.edu	37	13	38143945	38143945	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:38143945T>G	ENST00000379747.4	-	20	2400	c.2283A>C	c.(2281-2283)aaA>aaC	p.K761N	POSTN_ENST00000379743.4_Missense_Mutation_p.K734N|POSTN_ENST00000379749.4_Missense_Mutation_p.K761N|POSTN_ENST00000541179.1_Missense_Mutation_p.K734N|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.K704N|POSTN_ENST00000541481.1_Missense_Mutation_p.K674N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	761					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.K761N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TCCTAGTGTATTTTATTTCAG	0.358																																					p.K704N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2112C	13						.						89.0	91.0	90.0					13																	38143945		2203	4299	6502	37041945	SO:0001583	missense	10631	exon18			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2283A>C	13.37:g.38143945T>G	ENSP00000369071:p.Lys761Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37041945	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643496	0.67244	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.93133	-2.92;-3.03;-3.01;-3.13;-3.17;-2.99	5.32	2.9	0.33743	.	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	L	0.54323	1.7	0.09310	N	0.999992	P;P;P;P;D;D;P	0.71674	0.734;0.915;0.82;0.915;0.996;0.998;0.907	B;P;B;P;D;D;P	0.81914	0.398;0.648;0.218;0.648;0.99;0.995;0.65	D	0.86878	0.2040	10	0.41790	T	0.15	.	8.5495	0.33442	0.0:0.2181:0.0:0.7819	.	674;674;734;734;704;704;761	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	N	734;761;761;734;704;674	ENSP00000437959:K734N;ENSP00000369073:K761N;ENSP00000369071:K761N;ENSP00000369067:K734N;ENSP00000369066:K704N;ENSP00000437953:K674N	ENSP00000369066:K704N	K	-	3	2	POSTN	37041945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.887000	0.39698	0.970000	0.38263	0.524000	0.50904	AAA		0.358	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
FREM2	341640	broad.mit.edu	37	13	39264954	39264954	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:39264954C>A	ENST00000280481.7	+	1	3689	c.3473C>A	c.(3472-3474)cCt>cAt	p.P1158H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1158					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1158H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGGTGGAACCTGTGGAGGAC	0.443																																					p.P1158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3473A	13						.						95.0	98.0	97.0					13																	39264954		2203	4300	6503	38162954	SO:0001583	missense	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3473C>A	13.37:g.39264954C>A	ENSP00000280481:p.Pro1158His	Somatic		Capture	Illumina HiSeq	Phase_I	38162954	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885128	0.72410	.	.	ENSG00000150893	ENST00000280481	T	0.54071	0.59	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82293	-0.0529	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1158	Q5SZK8	FREM2_HUMAN	H	1158	ENSP00000280481:P1158H	ENSP00000280481:P1158H	P	+	2	0	FREM2	38162954	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.814000	0.86154	2.890000	0.99128	0.650000	0.86243	CCT		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
NHLRC3	387921	broad.mit.edu	37	13	39621980	39621980	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:39621980G>A	ENST00000379600.3	+	7	1283	c.961G>A	c.(961-963)Gca>Aca	p.A321T	NHLRC3_ENST00000470258.1_Missense_Mutation_p.A124T|NHLRC3_ENST00000379599.2_Missense_Mutation_p.A254T	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	321						extracellular vesicular exosome (GO:0070062)		p.A321T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AAAGACTGGAGCAGTCTATGT	0.423																																					p.A254T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760A	13						.						83.0	76.0	78.0					13																	39621980		2203	4300	6503	38519980	SO:0001583	missense	387921	exon6				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.961G>A	13.37:g.39621980G>A	ENSP00000368920:p.Ala321Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38519980	NM_001017370	B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281539	0.80692	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	D;D;D	0.89343	-2.5;-2.5;-2.5	4.95	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.050141	0.85682	D	0.000000	D	0.92215	0.7531	M	0.66939	2.045	0.40303	D	0.978637	D;D	0.69078	0.997;0.992	D;P	0.63113	0.911;0.885	D	0.92043	0.5642	9	.	.	.	-19.7317	12.6504	0.56757	0.0:0.0:0.835:0.165	.	254;321	B4DTL0;Q5JS37	.;NHLC3_HUMAN	T	124;321;254	ENSP00000418127:A124T;ENSP00000368920:A321T;ENSP00000368919:A254T	.	A	+	1	0	NHLRC3	38519980	1.000000	0.71417	0.986000	0.45419	0.917000	0.54804	6.906000	0.75719	2.446000	0.82766	0.563000	0.77884	GCA		0.423	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754	
KBTBD6	89890	broad.mit.edu	37	13	41705574	41705574	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:41705574G>A	ENST00000379485.1	-	1	1308	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	KBTBD6_ENST00000499385.2_Silent_p.C292C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	358								p.C358C(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATGGATCACAGCAGAGAAAGG	0.507																																					p.C358C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	13						.						95.0	96.0	96.0					13																	41705574		2203	4300	6503	40603574	SO:0001819	synonymous_variant	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1074C>T	13.37:g.41705574G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40603574	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	CCDS9376.1																																																																																				0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
VWA8	23078	broad.mit.edu	37	13	42293845	42293845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:42293845G>A	ENST00000379310.3	-	26	3066	c.2998C>T	c.(2998-3000)Cga>Tga	p.R1000*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.R1000*	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1000						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1000*(2)									AACACATTTCGAACTACACTG	0.333																																					p.R1000X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C2998T	13						.						128.0	113.0	118.0					13																	42293845		2203	4300	6503	41191845	SO:0001587	stop_gained	23078	exon26			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2998C>T	13.37:g.42293845G>A	ENSP00000368612:p.Arg1000*	Somatic		Capture	Illumina HiSeq	Phase_I	41191845	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	40	7.930866	0.98568	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	.	.	.	5.41	1.89	0.25635	.	0.125473	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4972	0.75662	0.0:0.0:0.677:0.323	.	.	.	.	X	904;1000;1000	.	ENSP00000251030:R904X	R	-	1	2	KIAA0564	41191845	0.926000	0.31397	0.996000	0.52242	0.968000	0.65278	1.159000	0.31749	0.561000	0.29186	0.585000	0.79938	CGA		0.333	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42385401	42385401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:42385401C>A	ENST00000379310.3	-	17	2091	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.E675*	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	675						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E675*(1)									TGAAGATTTTCATTAGGATAC	0.388																																					p.E675X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2023T	13						.						120.0	125.0	123.0					13																	42385401		2203	4300	6503	41283401	SO:0001587	stop_gained	23078	exon17			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2023G>T	13.37:g.42385401C>A	ENSP00000368612:p.Glu675*	Somatic		Capture	Illumina HiSeq	Phase_I	41283401	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	41	8.758458	0.98943	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.6984	0.91611	0.0:1.0:0.0:0.0	.	.	.	.	X	579;675;675	.	ENSP00000251030:E579X	E	-	1	0	KIAA0564	41283401	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.600000	0.74132	2.514000	0.84764	0.585000	0.79938	GAA		0.388	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
DGKH	160851	broad.mit.edu	37	13	42772653	42772653	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:42772653C>T	ENST00000337343.4	+	18	2228	c.2207C>T	c.(2206-2208)tCg>tTg	p.S736L	DGKH_ENST00000540693.1_Missense_Mutation_p.S736L|DGKH_ENST00000379274.2_Missense_Mutation_p.S600L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.S491L|DGKH_ENST00000261491.5_Missense_Mutation_p.S736L|DGKH_ENST00000536612.1_Missense_Mutation_p.S600L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	736					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S736L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTGGGAGTTCGATTATCAAC	0.413																																					p.S736L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2207T	13						.						145.0	134.0	138.0					13																	42772653		2203	4300	6503	41670653	SO:0001583	missense	160851	exon18			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2207C>T	13.37:g.42772653C>T	ENSP00000337572:p.Ser736Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41670653	NM_178009	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421710	0.96111	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;D;D;T	0.81908	-1.55;-1.37;-1.55;-1.53;-1.53;1.68	5.42	5.42	0.78866	.	0.111043	0.64402	D	0.000005	D	0.90800	0.7111	M	0.71581	2.175	0.80722	D	1	D;P;D;P	0.89917	1.0;0.941;1.0;0.898	D;P;D;B	0.76575	0.973;0.541;0.988;0.177	D	0.90435	0.4427	10	0.52906	T	0.07	.	19.5786	0.95455	0.0:1.0:0.0:0.0	.	491;600;736;736	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	L	736;736;736;600;600;491	ENSP00000440823:S736L;ENSP00000337572:S736L;ENSP00000261491:S736L;ENSP00000368576:S600L;ENSP00000445114:S600L;ENSP00000441308:S491L	ENSP00000261491:S736L	S	+	2	0	DGKH	41670653	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.986000	0.76200	2.711000	0.92665	0.655000	0.94253	TCG		0.413	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
DGKH	160851	broad.mit.edu	37	13	42793871	42793871	+	Missense_Mutation	SNP	G	G	A	rs200276004		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:42793871G>A	ENST00000337343.4	+	28	3404	c.3383G>A	c.(3382-3384)cGa>cAa	p.R1128Q	DGKH_ENST00000540693.1_Missense_Mutation_p.R1128Q|DGKH_ENST00000379274.2_Missense_Mutation_p.R992Q|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.R883Q|DGKH_ENST00000261491.5_Missense_Mutation_p.R1128Q|DGKH_ENST00000536612.1_Missense_Mutation_p.R992Q	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1128					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R1128Q(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACCGTATTTCGAATAGTGCCA	0.378																																					p.R1128Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3383A	13						.						65.0	58.0	60.0					13																	42793871		2203	4300	6503	41691871	SO:0001583	missense	160851	exon28			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3383G>A	13.37:g.42793871G>A	ENSP00000337572:p.Arg1128Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41691871	NM_178009	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200646	0.94997	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;T;T;T	0.82344	-1.6;-1.33;-1.6;-1.46;-1.48;1.63	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91199	0.7227	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;P	0.78314	0.991;0.939;0.983;0.801	D	0.91447	0.5178	10	0.66056	D	0.02	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	883;992;1128;1128	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	Q	1128;1128;1128;992;992;883	ENSP00000440823:R1128Q;ENSP00000337572:R1128Q;ENSP00000261491:R1128Q;ENSP00000368576:R992Q;ENSP00000445114:R992Q;ENSP00000441308:R883Q	ENSP00000261491:R1128Q	R	+	2	0	DGKH	41691871	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	8.794000	0.91867	2.703000	0.92315	0.655000	0.94253	CGA		0.378	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
EPSTI1	94240	broad.mit.edu	37	13	43544765	43544765	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:43544765C>A	ENST00000398762.3	-	2	229	c.230G>T	c.(229-231)aGa>aTa	p.R77I	EPSTI1_ENST00000313640.7_Missense_Mutation_p.R77I|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.R77I			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	77								p.R77I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TATCTCATTTCTCCGGTTTAT	0.308																																					p.R77I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G230T	13						.						215.0	209.0	211.0					13																	43544765		2203	4299	6502	42442765	SO:0001583	missense	94240	exon2			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.230G>T	13.37:g.43544765C>A	ENSP00000381746:p.Arg77Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42442765	NM_033255	Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178783	0.57692	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.21543	2.0	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.71581	2.175	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34004	-0.9846	10	0.66056	D	0.02	-16.0631	14.7802	0.69760	0.0:1.0:0.0:0.0	.	77;77	Q96J88-2;Q96J88-3	.;.	I	77	ENSP00000318982:R77I	ENSP00000318643:R77I	R	-	2	0	EPSTI1	42442765	0.994000	0.37717	0.710000	0.30468	0.328000	0.28507	3.847000	0.55895	2.854000	0.98071	0.655000	0.94253	AGA		0.308	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264	
ZC3H13	23091	broad.mit.edu	37	13	46616330	46616330	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:46616330C>T	ENST00000242848.4	-	4	656	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R103Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	103							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R103Q(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTGTATTTCGTTTCTGGGG	0.403																																					p.R103Q	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G308A	13						.						195.0	177.0	183.0					13																	46616330		2203	4300	6503	45514331	SO:0001583	missense	23091	exon4			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.308G>A	13.37:g.46616330C>T	ENSP00000242848:p.Arg103Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45514331	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	16.91	3.252122	0.59212	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.33865	2.39;1.39	5.43	5.43	0.79202	.	0.000000	0.47455	D	0.000236	T	0.35480	0.0933	N	0.17082	0.46	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.56398	0.632;0.797	T	0.05162	-1.0902	10	0.24483	T	0.36	.	13.5327	0.61631	0.0:0.9253:0.0:0.0746	.	103;103	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	103	ENSP00000242848:R103Q;ENSP00000282007:R103Q	ENSP00000242848:R103Q	R	-	2	0	ZC3H13	45514331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.399000	0.66314	2.557000	0.86248	0.467000	0.42956	CGA		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
KIAA0226L	80183	broad.mit.edu	37	13	46942916	46942916	+	Silent	SNP	C	C	T	rs143042360	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:46942916C>T	ENST00000429979.1	-	4	1174	c.570G>A	c.(568-570)tcG>tcA	p.S190S	KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000534925.1_Silent_p.S55S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000378781.3_Silent_p.S190S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343													C|||	3	0.000599042	0.0	0.0	5008	,	,		16557	0.0		0.0	False		,,,				2504	0.0031				p.S190S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G570A	13						.	C		4,4402	8.1+/-20.4	0,4,2199	129.0	132.0	131.0		570	3.3	1.0	13	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	KIAA0226L	NM_025113.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		190/663	46942916	4,13002	2203	4300	6503	45840917	SO:0001819	synonymous_variant	80183	exon4			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.570G>A	13.37:g.46942916C>T		Somatic		Capture	Illumina HiSeq	Phase_I	45840917	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	CCDS31970.2																																																																																				0.343	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
CAB39L	81617	broad.mit.edu	37	13	49951199	49951199	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:49951199T>C	ENST00000355854.4	-	3	677	c.180A>G	c.(178-180)gaA>gaG	p.E60E	CAB39L_ENST00000347776.5_Silent_p.E60E|CAB39L_ENST00000409308.1_Silent_p.E60E|CAB39L_ENST00000410043.1_Silent_p.E60E	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	60					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.E60E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTGTTGGGGGTTCTTTCTCGT	0.448																																					p.E60E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A180G	13						.						126.0	121.0	123.0					13																	49951199		2203	4300	6503	48849200	SO:0001819	synonymous_variant	81617	exon3			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.180A>G	13.37:g.49951199T>C		Somatic		Capture	Illumina HiSeq	Phase_I	48849200	NM_030925	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	ENST00000355854.4	37	CCDS9416.2																																																																																				0.448	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925	
PHF11	51131	broad.mit.edu	37	13	50092282	50092282	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:50092282T>G	ENST00000378319.3	+	4	494	c.453T>G	c.(451-453)atT>atG	p.I151M	PHF11_ENST00000488958.1_Missense_Mutation_p.I112M|PHF11_ENST00000357596.3_Missense_Mutation_p.I112M	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I151M(1)		large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		TTCGAGGAATTTATAAGTATT	0.363																																					p.I151M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T453G	13						.						55.0	58.0	57.0					13																	50092282		2203	4300	6503	48990283	SO:0001583	missense	51131	exon4			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.453T>G	13.37:g.50092282T>G	ENSP00000367570:p.Ile151Met	Somatic		Capture	Illumina HiSeq	Phase_I	48990283	NM_001040443	Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	CCDS31975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.029821|3.029821	0.54790|0.54790	.|.	.|.	ENSG00000136147|ENSG00000136147	ENST00000426879|ENST00000378319;ENST00000496612;ENST00000357596;ENST00000442195;ENST00000488958	.|T;T;T;T;T	.|0.70631	.|-0.5;-0.5;-0.5;-0.5;-0.5	3.89|3.89	1.33|1.33	0.21861|0.21861	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	.|0.561883	.|0.15994	.|N	.|0.234694	T|T	0.72985|0.72985	0.3529|0.3529	L|L	0.49126|0.49126	1.545|1.545	0.23598|0.23598	N|N	0.997322|0.997322	.|D;D	.|0.71674	.|0.996;0.998	.|P;D	.|0.66196	.|0.897;0.942	T|T	0.59695|0.59695	-0.7406|-0.7406	5|10	.|0.44086	.|T	.|0.13	-1.0709|-1.0709	4.063|4.063	0.09847|0.09847	0.181:0.1028:0.0:0.7162|0.181:0.1028:0.0:0.7162	.|.	.|151;151	.|B4DTX8;Q9UIL8	.|.;PHF11_HUMAN	C|M	106|151;83;112;112;112	.|ENSP00000367570:I151M;ENSP00000419229:I83M;ENSP00000350209:I112M;ENSP00000405227:I112M;ENSP00000417539:I112M	.|ENSP00000350209:I112M	F|I	+|+	2|3	0|3	PHF11|PHF11	48990283|48990283	1.000000|1.000000	0.71417|0.71417	0.772000|0.772000	0.31596|0.31596	0.258000|0.258000	0.26162|0.26162	1.154000|1.154000	0.31688|0.31688	0.164000|0.164000	0.19529|0.19529	-0.256000|-0.256000	0.11100|0.11100	TTT|ATT		0.363	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119	
RCBTB1	55213	broad.mit.edu	37	13	50115897	50115897	+	Silent	SNP	G	G	A	rs368866477		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:50115897G>A	ENST00000378302.2	-	11	1499	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	RCBTB1_ENST00000471984.1_5'Flank|RCBTB1_ENST00000258646.3_Silent_p.I413I	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	413	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I413I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AAAACTGATCGATTTCTATCA	0.433																																					p.I413I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1239T	13						.	G		0,4406		0,0,2203	153.0	117.0	129.0		1239	3.3	1.0	13		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RCBTB1	NM_018191.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		413/532	50115897	1,13005	2203	4300	6503	49013898	SO:0001819	synonymous_variant	55213	exon11			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1239C>T	13.37:g.50115897G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49013898	NM_018191	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	CCDS9418.1																																																																																				0.433	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191	
TRIM13	10206	broad.mit.edu	37	13	50586913	50586913	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:50586913G>T	ENST00000378182.3	+	2	1575	c.837G>T	c.(835-837)aaG>aaT	p.K279N	TRIM13_ENST00000420995.2_Missense_Mutation_p.K279N|TRIM13_ENST00000457662.2_Missense_Mutation_p.K279N|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_5'Flank|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.K282N|TRIM13_ENST00000356017.4_Missense_Mutation_p.K282N	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	279					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K279N(1)		large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTTAATGAAGAACTTTGATA	0.398																																					p.K279N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G837T	13						.						140.0	147.0	145.0					13																	50586913		2203	4300	6503	49484914	SO:0001583	missense	10206	exon3			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.837G>T	13.37:g.50586913G>T	ENSP00000367424:p.Lys279Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49484914	NM_005798	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262463	0.23051	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.26373	1.74;1.74;2.27;1.74;2.27	5.75	3.99	0.46301	.	0.171377	0.52532	D	0.000075	T	0.21267	0.0512	N	0.24115	0.695	0.34592	D	0.715551	P;D	0.53885	0.938;0.963	B;P	0.48270	0.368;0.572	T	0.09314	-1.0680	9	.	.	.	-6.6303	11.491	0.50381	0.1668:0.0:0.8332:0.0	.	279;282	O60858;O60858-3	TRI13_HUMAN;.	N	279;279;282;279;282	ENSP00000412943:K279N;ENSP00000367424:K279N;ENSP00000348299:K282N;ENSP00000399206:K279N;ENSP00000298772:K282N	.	K	+	3	2	TRIM13	49484914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.520000	0.22878	2.711000	0.92665	0.655000	0.94253	AAG		0.398	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	
NEK3	4752	broad.mit.edu	37	13	52707880	52707880	+	Missense_Mutation	SNP	C	C	T	rs34076988	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:52707880C>T	ENST00000400357.2	-	13	2623	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	NEK3_ENST00000452082.2_Missense_Mutation_p.D465N|NEK3_ENST00000339406.3_Missense_Mutation_p.D461N|NEK3_ENST00000378101.2_Missense_Mutation_p.D461N			P51956	NEK3_HUMAN	NIMA-related kinase 3	461					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D461N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		ATGACAGAATCGTGACCTCCA	0.483													C|||	5	0.000998403	0.0	0.0	5008	,	,		15295	0.005		0.0	False		,,,				2504	0.0				p.D444N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1330A	13						.	C	ASN/ASP,ASN/ASP	0,3956		0,0,1978	58.0	56.0	57.0		1330,1380	4.2	0.7	13	dbSNP_126	57	1,8311		0,1,4155	yes	missense,missense	NEK3	NM_001146099.1,NM_152720.2	23,23	0,1,6133	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging,possibly-damaging	444/490,461/507	52707880	1,12267	1978	4156	6134	51605881	SO:0001583	missense	4752	exon14			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1330G>A	13.37:g.52707880C>T	ENSP00000383210:p.Asp444Asn	Somatic		Capture	Illumina HiSeq	Phase_I	51605881	NM_001146099	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.28	2.190256	0.38707	0.0	1.2E-4	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	4.99	4.15	0.48705	.	0.731136	0.13874	N	0.356796	T	0.40743	0.1129	L	0.56769	1.78	0.09310	N	1	P;D;D	0.57899	0.931;0.967;0.981	B;B;P	0.48063	0.286;0.361;0.565	T	0.28038	-1.0056	10	0.66056	D	0.02	.	9.0669	0.36469	0.0:0.8271:0.0:0.1729	rs34076988	461;465;438	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	N	461;461;444;465;438	ENSP00000339429:D461N;ENSP00000367341:D461N;ENSP00000383210:D444N;ENSP00000404197:D465N;ENSP00000448716:D438N	ENSP00000339429:D461N	D	-	1	0	NEK3	51605881	0.978000	0.34361	0.698000	0.30274	0.147000	0.21601	2.970000	0.49240	1.214000	0.43395	0.467000	0.42956	GAT		0.483	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		
PCDH17	27253	broad.mit.edu	37	13	58240887	58240887	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:58240887A>C	ENST00000377918.3	+	3	2743	c.2717A>C	c.(2716-2718)aAa>aCa	p.K906T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	906					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K906T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACACTAACAAAGGCTCCTGC	0.483																																					p.K906T	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2717C	13						.						102.0	93.0	96.0					13																	58240887		2203	4300	6503	57138888	SO:0001583	missense	27253	exon3			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2717A>C	13.37:g.58240887A>C	ENSP00000367151:p.Lys906Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57138888	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622522	0.66787	.	.	ENSG00000118946	ENST00000377918	T	0.52295	0.67	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	L	0.43152	1.355	0.58432	D	0.999996	P	0.52316	0.952	P	0.53649	0.731	T	0.49716	-0.8910	9	.	.	.	.	16.1946	0.82018	1.0:0.0:0.0:0.0	.	906	O14917	PCD17_HUMAN	T	906	ENSP00000367151:K906T	.	K	+	2	0	PCDH17	57138888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.228000	0.72767	0.528000	0.53228	AAA		0.483	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
DIAPH3	81624	broad.mit.edu	37	13	60348346	60348346	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:60348346G>T	ENST00000400324.4	-	27	3516	c.3296C>A	c.(3295-3297)cCt>cAt	p.P1099H	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P1029H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P1099H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P1053H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P1088H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P1099H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1099					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1099H(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTCAGAACAGGCCTCTGAGA	0.338																																					p.P836H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2507A	13						.						80.0	77.0	78.0					13																	60348346		1819	4078	5897	59246347	SO:0001583	missense	81624	exon21			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3296C>A	13.37:g.60348346G>T	ENSP00000383178:p.Pro1099His	Somatic		Capture	Illumina HiSeq	Phase_I	59246347	NM_030932	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389750	0.61956	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214	D;D;D;D;D;D	0.82803	-1.64;-1.65;-1.65;-1.61;-1.6;-1.57	5.59	4.74	0.60224	.	0.081242	0.52532	D	0.000064	D	0.84808	0.5554	L	0.29908	0.895	0.33937	D	0.642796	D;D	0.76494	0.997;0.999	P;D	0.63488	0.864;0.915	D	0.89761	0.3947	10	0.72032	D	0.01	.	14.3028	0.66364	0.0714:0.0:0.9286:0.0	.	836;1099	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	H	1099;1099;1088;1053;1029;1088;1029;1053;1099;836	ENSP00000383178:P1099H;ENSP00000383184:P1099H;ENSP00000367141:P1088H;ENSP00000383173:P1029H;ENSP00000383174:P1053H;ENSP00000267215:P1099H	ENSP00000267214:P836H	P	-	2	0	DIAPH3	59246347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.447000	0.66606	1.374000	0.46228	0.655000	0.94253	CCT		0.338	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
PCDH20	64881	broad.mit.edu	37	13	61986053	61986053	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:61986053T>G	ENST00000409186.1	-	5	4284	c.2179A>C	c.(2179-2181)Aaa>Caa	p.K727Q	PCDH20_ENST00000409204.4_Missense_Mutation_p.K727Q			Q8N6Y1	PCD20_HUMAN	protocadherin 20	727	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K700Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATTGTGATTTTTGCTGTAGAG	0.453																																					p.K727Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2179C	13						.						110.0	116.0	114.0					13																	61986053		2203	4300	6503	60884054	SO:0001583	missense	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2179A>C	13.37:g.61986053T>G	ENSP00000386653:p.Lys727Gln	Somatic		Capture	Illumina HiSeq	Phase_I	60884054	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164722	0.57476	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01745	4.66;4.66	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.06005	0.0156	L	0.44542	1.39	0.52099	D	0.99994	D	0.64830	0.994	P	0.61658	0.892	T	0.54695	-0.8255	10	0.31617	T	0.26	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	727	A8K1K9	.	Q	727;727;473	ENSP00000387250:K727Q;ENSP00000386653:K727Q	ENSP00000351500:K473Q	K	-	1	0	PCDH20	60884054	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.965000	0.87945	2.269000	0.75478	0.455000	0.32223	AAA		0.453	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDH9	5101	broad.mit.edu	37	13	67799571	67799571	+	Missense_Mutation	SNP	C	C	T	rs576798095		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:67799571C>T	ENST00000377865.2	-	1	3136	c.3002G>A	c.(3001-3003)gGc>gAc	p.G1001D	PCDH9_ENST00000544246.1_Missense_Mutation_p.G1001D|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1001D|PCDH9_ENST00000377861.3_Missense_Mutation_p.G1001D|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1001D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1001					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1001D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTCTTGAAGCCTCCTTGGGA	0.478																																					p.G1001D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3002A	13						.						114.0	103.0	107.0					13																	67799571		2203	4300	6503	66697572	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3002G>A	13.37:g.67799571C>T	ENSP00000367096:p.Gly1001Asp	Somatic		Capture	Illumina HiSeq	Phase_I	66697572	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211434	0.58343	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.33	5.33	0.75918	Protocadherin (1);	0.051622	0.85682	D	0.000000	T	0.46908	0.1417	L	0.44542	1.39	0.80722	D	1	D;P;D;D	0.56746	0.977;0.929;0.972;0.977	P;P;P;P	0.62560	0.904;0.864;0.844;0.904	T	0.16778	-1.0391	10	0.35671	T	0.21	.	19.3681	0.94473	0.0:1.0:0.0:0.0	.	1001;1001;1001;1001	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	D	1001	ENSP00000442186:G1001D;ENSP00000367096:G1001D;ENSP00000401699:G1001D;ENSP00000332060:G1001D;ENSP00000367092:G1001D	ENSP00000332060:G1001D	G	-	2	0	PCDH9	66697572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.986000	0.70563	2.651000	0.90000	0.655000	0.94253	GGC		0.478	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
DIS3	22894	broad.mit.edu	37	13	73346314	73346314	+	Missense_Mutation	SNP	C	C	T	rs575448022	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:73346314C>T	ENST00000377767.4	-	10	1586	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	DIS3_ENST00000545453.1_Missense_Mutation_p.E334K|DIS3_ENST00000377780.4_Missense_Mutation_p.E466K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	496					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.E496K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTTCCATTTTCGAGTTCTCGA	0.368										Multiple Myeloma(4;0.011)			C|||	3	0.000599042	0.0023	0.0	5008	,	,		18150	0.0		0.0	False		,,,				2504	0.0				p.E466K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1396A	13						.						93.0	94.0	93.0					13																	73346314		2203	4300	6503	72244315	SO:0001583	missense	22894	exon10			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1486G>A	13.37:g.73346314C>T	ENSP00000366997:p.Glu496Lys	Somatic		Capture	Illumina HiSeq	Phase_I	72244315	NM_001128226	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.114011	0.56398	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.44881	0.91;0.91;0.91	5.48	3.61	0.41365	Ribonuclease II/R (2);	0.303324	0.40064	N	0.001186	T	0.27278	0.0669	N	0.21324	0.655	0.46260	D	0.998954	B;B	0.10296	0.003;0.002	B;B	0.13407	0.008;0.009	T	0.04440	-1.0951	10	0.35671	T	0.21	.	8.9888	0.36010	0.0:0.7236:0.0:0.2764	.	466;496	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	496;466;334	ENSP00000366997:E496K;ENSP00000367011:E466K;ENSP00000440058:E334K	ENSP00000366997:E496K	E	-	1	0	DIS3	72244315	0.996000	0.38824	0.272000	0.24630	0.968000	0.65278	3.293000	0.51779	0.645000	0.30675	0.563000	0.77884	GAA		0.368	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
LMO7	4008	broad.mit.edu	37	13	76287329	76287329	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:76287329G>T	ENST00000341547.4	+	3	1497	c.237G>T	c.(235-237)gaG>gaT	p.E79D	LMO7_ENST00000357063.3_Missense_Mutation_p.E79D|LMO7_ENST00000377534.3_Missense_Mutation_p.E79D|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	79	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E79D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGTAACAGAGAAGAATTTTG	0.303																																					p.E79D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	13						.						53.0	56.0	55.0					13																	76287329		2202	4300	6502	75185330	SO:0001583	missense	4008	exon3			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.237G>T	13.37:g.76287329G>T	ENSP00000342112:p.Glu79Asp	Somatic		Capture	Illumina HiSeq	Phase_I	75185330	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031184	0.54790	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.59	5.59	0.84812	.	0.893968	0.09490	N	0.795107	T	0.48995	0.1531	N	0.12471	0.22	0.30375	N	0.782521	P;P	0.47604	0.898;0.827	P;B	0.46718	0.525;0.442	T	0.44205	-0.9343	10	0.27785	T	0.31	.	15.4504	0.75268	0.0:0.0:1.0:0.0	.	79;27	Q8WWI1-3;F8J2B5	.;.	D	79;79;79;27	ENSP00000342112:E79D;ENSP00000349571:E79D;ENSP00000366757:E79D;ENSP00000366719:E27D	ENSP00000342112:E79D	E	+	3	2	LMO7	75185330	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	3.096000	0.50243	2.793000	0.96121	0.561000	0.74099	GAG		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
LMO7	4008	broad.mit.edu	37	13	76409474	76409474	+	Splice_Site	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:76409474C>A	ENST00000321797.8	+	16	3354	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	LMO7_ENST00000357063.3_Splice_Site_p.S1163Y|LMO7_ENST00000377534.3_Splice_Site_p.S1163Y|LMO7_ENST00000465261.2_Splice_Site_p.S878Y|LMO7_ENST00000526202.1_Splice_Site_p.S755Y|LMO7_ENST00000341547.4_Splice_Site_p.S829Y			Q8WWI1	LMO7_HUMAN	LIM domain 7	1163					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S829Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTCAGAGTTCTGTGAGTATT	0.348																																					p.S878Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2633A	13						.						63.0	65.0	64.0					13																	76409474		2203	4300	6503	75307475	SO:0001630	splice_region_variant	4008	exon15			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2634+1C>A	13.37:g.76409474C>A		Somatic		Capture	Illumina HiSeq	Phase_I	75307475	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.12|17.12|17.12	3.307005|3.307005|3.307005	0.60305|0.60305|0.60305	.|.|.	.|.|.	ENSG00000136153|ENSG00000136153|ENSG00000136153	ENST00000447038;ENST00000525914|ENST00000524651;ENST00000525107|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|.|T;T;T;T;T;T;T	.|.|0.50001	.|.|1.34;1.34;1.35;0.76;0.78;0.85;0.76	5.78|5.78|5.78	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	.|.|1.166090	.|.|0.06324	.|.|N	.|.|0.705007	T|T|T	0.57902|0.57902|0.57902	0.2085|0.2085|0.2085	L|L|L	0.49350|0.49350|0.49350	1.555|1.555|1.555	0.32937|0.32937|0.32937	D|D|D	0.517846|0.517846|0.517846	.|.|B;B;D;B;B	.|.|0.61080	.|.|0.007;0.023;0.989;0.007;0.049	.|.|B;B;P;B;B	.|.|0.53450	.|.|0.005;0.01;0.726;0.005;0.122	T|T|T	0.50890|0.50890|0.50890	-0.8774|-0.8774|-0.8774	5|5|10	.|.|0.28530	.|.|T	.|.|0.3	-1.5257|-1.5257|-1.5257	13.6045|13.6045|13.6045	0.62039|0.62039|0.62039	0.3995:0.6005:0.0:0.0|0.3995:0.6005:0.0:0.0|0.3995:0.6005:0.0:0.0	.|.|.	.|.|755;829;1163;878;1111	.|.|E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.|.|.;.;LMO7_HUMAN;.;.	L|I|Y	786;65|210;117|829;1163;1163;777;878;755;878	.|.|ENSP00000342112:S829Y;ENSP00000349571:S1163Y;ENSP00000366757:S1163Y;ENSP00000366719:S777Y;ENSP00000317802:S878Y;ENSP00000431129:S755Y;ENSP00000433352:S878Y	.|.|ENSP00000317802:S878Y	F|L|S	+|+|+	3|1|2	2|2|0	LMO7|LMO7|LMO7	75307475|75307475|75307475	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.615000|0.615000|0.615000	0.37417|0.37417|0.37417	0.913000|0.913000|0.913000	0.28611|0.28611|0.28611	1.542000|1.542000|1.542000	0.49330|0.49330|0.49330	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	TTC|CTA|TCT		0.348	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	Missense_Mutation
LMO7	4008	broad.mit.edu	37	13	76410563	76410563	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:76410563C>T	ENST00000321797.8	+	17	3386	c.2665C>T	c.(2665-2667)Cat>Tat	p.H889Y	LMO7_ENST00000357063.3_Missense_Mutation_p.H1174Y|LMO7_ENST00000377534.3_Missense_Mutation_p.H1174Y|LMO7_ENST00000465261.2_Missense_Mutation_p.H889Y|LMO7_ENST00000526202.1_Missense_Mutation_p.H766Y|LMO7_ENST00000341547.4_Missense_Mutation_p.H840Y			Q8WWI1	LMO7_HUMAN	LIM domain 7	1174					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H840Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAATGGAATTCATGATGAAAG	0.313																																					p.H889Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2665T	13						.						43.0	39.0	40.0					13																	76410563		2178	4266	6444	75308564	SO:0001583	missense	4008	exon16			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2665C>T	13.37:g.76410563C>T	ENSP00000317802:p.His889Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	75308564	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.63|11.63	1.695348|1.695348	0.30052|0.30052	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	T;T;T;T;T;T;T|.	0.44482|.	1.5;1.5;1.5;0.92;0.93;0.96;0.92|.	5.87|5.87	1.02|1.02	0.19986|0.19986	.|.	0.809980|.	0.12353|.	N|.	0.476344|.	T|T	0.25419|0.25419	0.0618|0.0618	L|L	0.29908|0.29908	0.895|0.895	0.22710|0.22710	N|N	0.998828|0.998828	B;B;B;B;B|.	0.33171|.	0.068;0.184;0.4;0.068;0.04|.	B;B;B;B;B|.	0.31614|.	0.025;0.055;0.062;0.025;0.133|.	T|T	0.23619|0.23619	-1.0183|-1.0183	10|5	0.45353|.	T|.	0.12|.	-0.2627|-0.2627	5.7024|5.7024	0.17889|0.17889	0.1273:0.5875:0.0:0.2852|0.1273:0.5875:0.0:0.2852	.|.	766;840;1174;889;1122|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	Y|L	840;1174;1174;788;889;766;889|797;76	ENSP00000342112:H840Y;ENSP00000349571:H1174Y;ENSP00000366757:H1174Y;ENSP00000366719:H788Y;ENSP00000317802:H889Y;ENSP00000431129:H766Y;ENSP00000433352:H889Y|.	ENSP00000317802:H889Y|.	H|S	+|+	1|2	0|0	LMO7|LMO7	75308564|75308564	0.799000|0.799000	0.28903|0.28903	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	0.338000|0.338000	0.19858|0.19858	0.493000|0.493000	0.27837|0.27837	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.313	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
CLN5	1203	broad.mit.edu	37	13	77569310	77569310	+	Nonsense_Mutation	SNP	C	C	T	rs386833971		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:77569310C>T	ENST00000377453.3	+	2	1725	c.433C>T	c.(433-435)Cga>Tga	p.R145*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	96					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)	p.R145*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TGAAGTTTTTCGATTACAAGC	0.408																																					p.R145X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C433T	13						.						162.0	161.0	161.0					13																	77569310		2203	4300	6503	76467311	SO:0001587	stop_gained	1203	exon2				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.433C>T	13.37:g.77569310C>T	ENSP00000366673:p.Arg145*	Somatic		Capture	Illumina HiSeq	Phase_I	76467311	NM_006493	B3KQK7	Nonsense_Mutation	SNP	ENST00000377453.3	37	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	C	48	13.915676	0.99770	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	.	.	.	5.84	3.05	0.35203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0927	15.0069	0.71519	0.3708:0.6292:0.0:0.0	.	.	.	.	X	145;96;11	.	ENSP00000366673:R145X	R	+	1	2	CLN5	76467311	0.982000	0.34865	0.877000	0.34402	0.988000	0.76386	0.839000	0.27586	0.319000	0.23209	0.655000	0.94253	CGA		0.408	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493	
MYCBP2	23077	broad.mit.edu	37	13	77755924	77755924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:77755924G>T	ENST00000544440.2	-	33	4756	c.4739C>A	c.(4738-4740)tCa>tAa	p.S1580*	MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.S1618*|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.S1580*					MYC binding protein 2, E3 ubiquitin protein ligase									p.S1580*(1)|p.S1618*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTAACAATTGATCGTAGTAA	0.443																																					p.S1618X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4853A	13						.						165.0	144.0	151.0					13																	77755924		2203	4300	6503	76653925	SO:0001587	stop_gained	23077	exon33			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4739C>A	13.37:g.77755924G>T	ENSP00000444596:p.Ser1580*	Somatic		Capture	Illumina HiSeq	Phase_I	76653925	NM_015057		Nonsense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	44	11.249549	0.99537	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	1580;1618;1580	.	ENSP00000349892:S1580X	S	-	2	0	MYCBP2	76653925	1.000000	0.71417	0.996000	0.52242	0.578000	0.36192	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCA		0.443	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
MYCBP2	23077	broad.mit.edu	37	13	77853004	77853004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:77853004C>A	ENST00000544440.2	-	4	540	c.523G>T	c.(523-525)Gag>Tag	p.E175*	MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E213*|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E175*					MYC binding protein 2, E3 ubiquitin protein ligase									p.E213*(1)|p.E175*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATCGTGTCTCTTTGATCAAT	0.428																																					p.E213X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G637T	13						.						47.0	48.0	48.0					13																	77853004		2203	4300	6503	76751005	SO:0001587	stop_gained	23077	exon4			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.523G>T	13.37:g.77853004C>A	ENSP00000444596:p.Glu175*	Somatic		Capture	Illumina HiSeq	Phase_I	76751005	NM_015057		Nonsense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	38	6.701844	0.97772	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	.	.	.	X	175;213;175	.	ENSP00000349892:E175X	E	-	1	0	MYCBP2	76751005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.707000	0.92482	0.655000	0.94253	GAG		0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
SCEL	8796	broad.mit.edu	37	13	78133971	78133971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:78133971G>A	ENST00000349847.3	+	4	278	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	SCEL_ENST00000377246.3_Missense_Mutation_p.R65Q|SCEL_ENST00000535157.1_Missense_Mutation_p.R65Q	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	65					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.R65Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTGCTCAACCGACATAATTCC	0.393																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	13						.						251.0	222.0	232.0					13																	78133971		2203	4300	6503	77031972	SO:0001583	missense	8796	exon4			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.194G>A	13.37:g.78133971G>A	ENSP00000302579:p.Arg65Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77031972	NM_001160706	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150924	0.78001	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.20881	2.04;2.04;2.04	5.71	4.86	0.63082	.	0.000000	0.46145	D	0.000311	T	0.35566	0.0936	M	0.71581	2.175	0.33062	D	0.534229	P;D;D	0.57899	0.955;0.981;0.978	P;P;P	0.60236	0.661;0.871;0.748	T	0.41805	-0.9488	10	0.27082	T	0.32	-12.8208	7.8192	0.29278	0.1613:0.0:0.8387:0.0	.	65;65;65	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	Q	65	ENSP00000437895:R65Q;ENSP00000366454:R65Q;ENSP00000302579:R65Q	ENSP00000315127:R65Q	R	+	2	0	SCEL	77031972	0.997000	0.39634	0.661000	0.29709	0.919000	0.55068	3.421000	0.52742	2.701000	0.92244	0.591000	0.81541	CGA		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	
SCEL	8796	broad.mit.edu	37	13	78177261	78177261	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:78177261A>C	ENST00000349847.3	+	18	1172	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.N343T|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.N341T|SCEL-AS1_ENST00000456280.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	363	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.N363T(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGACATGAAAATACCACTGGG	0.274																																					p.N341T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1022C	13						.						49.0	55.0	53.0					13																	78177261		2202	4298	6500	77075262	SO:0001583	missense	8796	exon17			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1088A>C	13.37:g.78177261A>C	ENSP00000302579:p.Asn363Thr	Somatic		Capture	Illumina HiSeq	Phase_I	77075262	NM_001160706	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	6.000	0.368459	0.11352	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.26373	1.74;1.74;1.74	4.37	1.94	0.25998	.	0.174171	0.27240	N	0.020274	T	0.25494	0.0620	M	0.62723	1.935	0.09310	N	1	P;P;P	0.46952	0.705;0.86;0.887	B;P;P	0.47044	0.359;0.453;0.535	T	0.12941	-1.0528	10	0.14656	T	0.56	-10.7395	5.6094	0.17396	0.7612:0.0:0.2388:0.0	.	341;343;363	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	T	341;343;363	ENSP00000437895:N341T;ENSP00000366454:N343T;ENSP00000302579:N363T	ENSP00000302579:N363T	N	+	2	0	SCEL	77075262	0.005000	0.15991	0.212000	0.23672	0.124000	0.20399	0.953000	0.29162	0.196000	0.20367	0.533000	0.62120	AAT		0.274	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	
EDNRB	1910	broad.mit.edu	37	13	78475213	78475213	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:78475213A>G	ENST00000334286.5	-	4	1167	c.931T>C	c.(931-933)Tta>Cta	p.L311L	EDNRB_ENST00000446573.1_Silent_p.L311L|EDNRB_ENST00000377211.4_Silent_p.L401L	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	311					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L311L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGATCATTTAAAGCAATCTGC	0.303																																					p.L311L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T931C	13						.						93.0	97.0	96.0					13																	78475213		2203	4300	6503	77373214	SO:0001819	synonymous_variant	1910	exon4			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.931T>C	13.37:g.78475213A>G		Somatic		Capture	Illumina HiSeq	Phase_I	77373214	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	CCDS9461.1																																																																																				0.303	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
RBM26	64062	broad.mit.edu	37	13	79929465	79929465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:79929465C>A	ENST00000438737.2	-	12	2184	c.1744G>T	c.(1744-1746)Gaa>Taa	p.E582*	RBM26_ENST00000438724.1_Nonsense_Mutation_p.E582*|RBM26_ENST00000267229.7_Nonsense_Mutation_p.E582*			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	582	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E582*(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCTTTGCTTCTTCGTATGTT	0.358																																					p.E582X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1744T	13						.						212.0	195.0	201.0					13																	79929465		2203	4300	6503	78827466	SO:0001587	stop_gained	64062	exon12			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1744G>T	13.37:g.79929465C>A	ENSP00000387531:p.Glu582*	Somatic		Capture	Illumina HiSeq	Phase_I	78827466	NM_022118	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Nonsense_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	C	44	10.674356	0.99448	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2455	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	582;583;582;582	.	.	E	-	1	0	RBM26	78827466	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.111000	0.77077	2.941000	0.99782	0.655000	0.94253	GAA		0.358	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118	
SLITRK1	114798	broad.mit.edu	37	13	84455338	84455338	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:84455338A>C	ENST00000377084.2	-	1	1190	c.305T>G	c.(304-306)tTt>tGt	p.F102C		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	102					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.F102C(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGCCCCAGAAAAGCCCCCGG	0.458																																					p.F102C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T305G	13						.						65.0	69.0	67.0					13																	84455338		2203	4300	6503	83353339	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.305T>G	13.37:g.84455338A>C	ENSP00000366288:p.Phe102Cys	Somatic		Capture	Illumina HiSeq	Phase_I	83353339	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857615	0.51376	.	.	ENSG00000178235	ENST00000377084	T	0.58940	0.3	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	H	0.95917	3.74	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.87668	0.2539	10	0.87932	D	0	-7.5873	12.8751	0.57986	1.0:0.0:0.0:0.0	.	102	Q96PX8	SLIK1_HUMAN	C	102	ENSP00000366288:F102C	ENSP00000366288:F102C	F	-	2	0	SLITRK1	83353339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	1.913000	0.55393	0.459000	0.35465	TTT		0.458	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK6	84189	broad.mit.edu	37	13	86368775	86368775	+	Missense_Mutation	SNP	G	G	T	rs78591979		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:86368775G>T	ENST00000400286.2	-	2	2467	c.1869C>A	c.(1867-1869)ttC>ttA	p.F623L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	623					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.F623L(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)		CTGCAGCACAGAAAACAATAG	0.413																																					p.F623L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1869A	13						.						124.0	118.0	120.0					13																	86368775		1958	4155	6113	85266776	SO:0001583	missense	84189	exon2			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.1869C>A	13.37:g.86368775G>T	ENSP00000383143:p.Phe623Leu	Somatic		Capture	Illumina HiSeq	Phase_I	85266776	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787339	0.31593	.	.	ENSG00000184564	ENST00000400286	T	0.61510	0.1	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000001	T	0.45397	0.1340	L	0.43923	1.385	0.42940	D	0.994344	B	0.26445	0.149	B	0.23716	0.048	T	0.42327	-0.9458	10	0.33141	T	0.24	-10.621	7.2166	0.25963	0.0856:0.0:0.7438:0.1707	.	623	Q9H5Y7	SLIK6_HUMAN	L	623	ENSP00000383143:F623L	ENSP00000383143:F623L	F	-	3	2	SLITRK6	85266776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.182000	0.50910	2.507000	0.84556	0.655000	0.94253	TTC		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SLITRK6	84189	broad.mit.edu	37	13	86370276	86370276	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:86370276G>T	ENST00000400286.2	-	2	966	c.368C>A	c.(367-369)tCt>tAt	p.S123Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	123					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.S123Y(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)		AATTTCTAAAGAATTGTGATT	0.358																																					p.S123Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C368A	13						.						106.0	99.0	101.0					13																	86370276		1829	4080	5909	85268277	SO:0001583	missense	84189	exon2			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.368C>A	13.37:g.86370276G>T	ENSP00000383143:p.Ser123Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	85268277	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887382	0.33348	.	.	ENSG00000184564	ENST00000400286	T	0.53640	0.61	6.17	6.17	0.99709	.	0.055012	0.85682	D	0.000000	T	0.48677	0.1513	L	0.41573	1.285	0.48452	D	0.999651	P	0.49185	0.92	P	0.45071	0.468	T	0.48352	-0.9043	10	0.72032	D	0.01	-16.8921	19.4432	0.94831	0.0:0.0:1.0:0.0	.	123	Q9H5Y7	SLIK6_HUMAN	Y	123	ENSP00000383143:S123Y	ENSP00000383143:S123Y	S	-	2	0	SLITRK6	85268277	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.547000	0.60712	2.941000	0.99782	0.655000	0.94253	TCT		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
DZIP1	22873	broad.mit.edu	37	13	96241451	96241451	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:96241451T>G	ENST00000376829.2	-	19	2835	c.1984A>C	c.(1984-1986)Aat>Cat	p.N662H	DZIP1_ENST00000361156.3_Missense_Mutation_p.N643H|DZIP1_ENST00000347108.3_Missense_Mutation_p.N662H|DZIP1_ENST00000361396.2_Missense_Mutation_p.N643H	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	662					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.N643H(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCATGACATTTTTCTTAATT	0.284																																					p.N643H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1927C	13						.						51.0	53.0	52.0					13																	96241451		2203	4297	6500	95039452	SO:0001583	missense	22873	exon18			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1984A>C	13.37:g.96241451T>G	ENSP00000366025:p.Asn662His	Somatic		Capture	Illumina HiSeq	Phase_I	95039452	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	T	7.196	0.592426	0.13812	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.68	3.23	0.37069	.	0.557226	0.20124	N	0.098735	T	0.22742	0.0549	L	0.41824	1.3	0.23751	N	0.996947	B;B	0.15473	0.012;0.013	B;B	0.14023	0.01;0.005	T	0.14448	-1.0472	10	0.37606	T	0.19	-6.5754	7.52	0.27622	0.0:0.1748:0.0:0.8252	.	643;662	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	H	662;643;643;662	ENSP00000257312:N662H;ENSP00000355018:N643H;ENSP00000355175:N643H;ENSP00000366025:N662H	ENSP00000257312:N662H	N	-	1	0	DZIP1	95039452	0.839000	0.29477	0.464000	0.27143	0.248000	0.25809	0.876000	0.28092	0.991000	0.38814	0.528000	0.53228	AAT		0.284	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96263741	96263741	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:96263741C>A	ENST00000376829.2	-	12	2172	c.1321G>T	c.(1321-1323)Gac>Tac	p.D441Y	DZIP1_ENST00000361156.3_Missense_Mutation_p.D441Y|DZIP1_ENST00000347108.3_Missense_Mutation_p.D441Y|DZIP1_ENST00000361396.2_Missense_Mutation_p.D441Y	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	441					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D441Y(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAGGTAAAGTCTTTAATCTGC	0.413																																					p.D441Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321T	13						.						130.0	130.0	130.0					13																	96263741		2203	4300	6503	95061742	SO:0001583	missense	22873	exon12			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1321G>T	13.37:g.96263741C>A	ENSP00000366025:p.Asp441Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	95061742	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605441	0.28623	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.26	5.26	0.73747	.	0.486749	0.23943	N	0.043024	T	0.25382	0.0617	N	0.08118	0	0.26781	N	0.969593	B;B	0.24576	0.106;0.064	B;B	0.13407	0.009;0.004	T	0.23619	-1.0183	10	0.62326	D	0.03	-19.2043	14.7307	0.69379	0.0:1.0:0.0:0.0	.	441;441	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	Y	441	ENSP00000257312:D441Y;ENSP00000355018:D441Y;ENSP00000355175:D441Y;ENSP00000366025:D441Y	ENSP00000257312:D441Y	D	-	1	0	DZIP1	95061742	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	3.440000	0.52886	2.610000	0.88304	0.557000	0.71058	GAC		0.413	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
UGGT2	55757	broad.mit.edu	37	13	96540199	96540199	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:96540199C>A	ENST00000376747.3	-	26	3055	c.2985G>T	c.(2983-2985)aaG>aaT	p.K995N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	995					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.K995N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ACAACTTTATCTTCATGTTGA	0.289																																					p.K995N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2985T	13						.						50.0	56.0	54.0					13																	96540199		2203	4299	6502	95338200	SO:0001583	missense	55757	exon26			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2985G>T	13.37:g.96540199C>A	ENSP00000365938:p.Lys995Asn	Somatic		Capture	Illumina HiSeq	Phase_I	95338200	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	0.199	-1.046570	0.01997	.	.	ENSG00000102595	ENST00000376747	T	0.30448	1.53	5.37	3.6	0.41247	.	0.270358	0.42294	D	0.000736	T	0.32071	0.0817	L	0.39085	1.19	0.27104	N	0.962552	D;B	0.71674	0.998;0.003	D;B	0.68353	0.957;0.006	T	0.24764	-1.0151	10	0.02654	T	1	-7.3803	5.143	0.14969	0.1498:0.616:0.0:0.2342	.	995;995	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	N	995	ENSP00000365938:K995N	ENSP00000365938:K995N	K	-	3	2	UGGT2	95338200	0.187000	0.23238	0.363000	0.25875	0.998000	0.95712	-0.014000	0.12656	0.597000	0.29811	0.655000	0.94253	AAG		0.289	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
IPO5	3843	broad.mit.edu	37	13	98637734	98637734	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:98637734C>A	ENST00000490680.1	+	3	296	c.231C>A	c.(229-231)gtC>gtA	p.V77V	IPO5_ENST00000261574.5_Silent_p.V95V|IPO5_ENST00000539640.1_Silent_p.V77V			O00410	IPO5_HUMAN	importin 5	77	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.V95V(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGATGAAGTCTATCCAGCAC	0.413																																					p.V95V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285A	13						.						152.0	138.0	143.0					13																	98637734		2203	4300	6503	97435735	SO:0001819	synonymous_variant	3843	exon6			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.231C>A	13.37:g.98637734C>A		Somatic		Capture	Illumina HiSeq	Phase_I	97435735	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	C	8.606	0.888083	0.17540	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.63	0.428	0.16499	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48692	-0.9013	4	.	.	.	-12.9704	8.9398	0.35722	0.0:0.3522:0.0:0.6478	.	.	.	.	Y	79	.	.	S	+	2	0	IPO5	97435735	0.980000	0.34600	1.000000	0.80357	0.964000	0.63967	0.223000	0.17719	0.198000	0.20407	-0.244000	0.11960	TCT		0.413	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
DOCK9	23348	broad.mit.edu	37	13	99554689	99554689	+	Missense_Mutation	SNP	A	A	C	rs200221640		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:99554689A>C	ENST00000376460.1	-	12	1313	c.1233T>G	c.(1231-1233)atT>atG	p.I411M	DOCK9_ENST00000448493.2_Missense_Mutation_p.I423M|DOCK9_ENST00000442173.1_Missense_Mutation_p.I411M|DOCK9_ENST00000339416.2_Missense_Mutation_p.I412M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	412					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I412M(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATCGGCAGAAATCTTCCGGT	0.473																																					p.I411M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1233G	13						.						76.0	76.0	76.0					13																	99554689		2013	4186	6199	98352690	SO:0001583	missense	23348	exon12			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1233T>G	13.37:g.99554689A>C	ENSP00000365643:p.Ile411Met	Somatic		Capture	Illumina HiSeq	Phase_I	98352690	NM_001130050	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557098	0.65425	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.36	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	M	0.88979	2.995	0.49051	D	0.999748	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.999;0.98;0.991;0.999	T	0.61816	-0.6985	9	.	.	.	-21.1667	4.9134	0.13833	0.7188:0.0:0.1454:0.1359	.	412;411;411;411;412	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	M	411;412;412;412;411;412;423;411	ENSP00000365643:I411M;ENSP00000341086:I412M;ENSP00000401958:I423M;ENSP00000406883:I411M	.	I	-	3	3	DOCK9	98352690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.252000	0.51461	0.445000	0.26639	0.528000	0.53228	ATT		0.473	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
GPR183	1880	broad.mit.edu	37	13	99948119	99948119	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:99948119C>T	ENST00000376414.4	-	2	364	c.281G>A	c.(280-282)gGc>gAc	p.G94D	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	94					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.G94D(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CCAGTCAAAGCCCATTGCATA	0.403																																					p.G94D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	13						.						148.0	128.0	134.0					13																	99948119		2203	4300	6503	98746120	SO:0001583	missense	1880	exon2			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.281G>A	13.37:g.99948119C>T	ENSP00000365596:p.Gly94Asp	Somatic		Capture	Illumina HiSeq	Phase_I	98746120	NM_004951	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189271	0.57909	.	.	ENSG00000169508	ENST00000376414	T	0.26373	1.74	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.55743	1.74	0.80722	D	1	P	0.40211	0.707	B	0.40038	0.317	T	0.01561	-1.1324	9	.	.	.	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	94	P32249	GP183_HUMAN	D	94	ENSP00000365596:G94D	.	G	-	2	0	GPR183	98746120	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.958000	0.63660	2.736000	0.93811	0.655000	0.94253	GGC		0.403	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
UPF3A	65110	broad.mit.edu	37	13	115064359	115064359	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr13:115064359A>T	ENST00000375299.3	+	8	947	c.891A>T	c.(889-891)aaA>aaT	p.K297N	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.K264N	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	297					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K297N(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CCACAGAGAAACCAAAAGAAA	0.463																																					p.K297N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A891T	13						.						39.0	38.0	38.0					13																	115064359		2202	4297	6499	114082461	SO:0001583	missense	65110	exon8			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.891A>T	13.37:g.115064359A>T	ENSP00000364448:p.Lys297Asn	Somatic		Capture	Illumina HiSeq	Phase_I	114082461	NM_023011	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035343	0.35893	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.31247	1.5;1.5	5.41	-1.47	0.08772	.	0.143554	0.64402	D	0.000013	T	0.21186	0.0510	L	0.45581	1.43	0.44579	D	0.997547	B;B	0.22003	0.063;0.017	B;B	0.27887	0.084;0.007	T	0.05131	-1.0904	9	.	.	.	-34.616	6.2193	0.20673	0.3713:0.0:0.4897:0.139	.	264;297	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	N	297;264;96	ENSP00000364448:K297N;ENSP00000329592:K264N	.	K	+	3	2	UPF3A	114082461	0.005000	0.15991	0.684000	0.30055	0.628000	0.37860	-0.543000	0.06084	-0.127000	0.11661	-0.301000	0.09380	AAA		0.463	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
DYNC1H1	1778	broad.mit.edu	37	14	102466731	102466731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:102466731C>T	ENST00000360184.4	+	18	4233	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1357	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R1357*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGTACAGCCTCGAAAGGTATA	0.403																																					p.R1357X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4069T	14						.						105.0	105.0	105.0					14																	102466731		2203	4300	6503	101536484	SO:0001587	stop_gained	1778	exon18			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4069C>T	14.37:g.102466731C>T	ENSP00000348965:p.Arg1357*	Somatic		Capture	Illumina HiSeq	Phase_I	101536484	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	46	12.346791	0.99659	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	.	.	.	X	1357	.	ENSP00000348965:R1357X	R	+	1	2	DYNC1H1	101536484	1.000000	0.71417	0.913000	0.36048	0.961000	0.63080	7.770000	0.85390	2.820000	0.97059	0.650000	0.86243	CGA		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
OR4K2	390431	broad.mit.edu	37	14	20344666	20344666	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20344666G>T	ENST00000298642.2	+	1	276	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACCCCAAAGATGATTACAG	0.413																																					p.K80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	14						.						264.0	259.0	260.0					14																	20344666		2203	4300	6503	19414506	SO:0001583	missense	390431	exon1				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.240G>T	14.37:g.20344666G>T	ENSP00000298642:p.Lys80Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19414506	NM_001005501	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.610661	0.46527	.	.	ENSG00000165762	ENST00000298642	T	0.00469	7.21	5.27	-0.188	0.13264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.00608	0.0020	M	0.80332	2.49	0.28282	N	0.923912	D	0.55800	0.973	P	0.48770	0.589	T	0.47799	-0.9089	10	0.66056	D	0.02	.	4.4496	0.11614	0.4768:0.0:0.3676:0.1556	.	80	Q8NGD2	OR4K2_HUMAN	N	80	ENSP00000298642:K80N	ENSP00000298642:K80N	K	+	3	2	OR4K2	19414506	0.001000	0.12720	0.993000	0.49108	0.905000	0.53344	-0.463000	0.06696	-0.212000	0.10109	-0.251000	0.11542	AAG		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
OR11H6	122748	broad.mit.edu	37	14	20691874	20691874	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20691874C>A	ENST00000315519.2	+	1	84	c.6C>A	c.(4-6)ttC>ttA	p.F2L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F2L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		tccaaatgttctttattattC	0.378																																					p.F2L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6A	14						.						57.0	63.0	61.0					14																	20691874		2202	4298	6500	19761714	SO:0001583	missense	122748	exon1				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.6C>A	14.37:g.20691874C>A	ENSP00000319071:p.Phe2Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19761714	NM_001004480	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	c	7.254	0.603753	0.14002	.	.	ENSG00000176219	ENST00000315519	T	0.00526	6.8	4.64	0.489	0.16854	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	9	0.29301	T	0.29	.	4.993	0.14224	0.0:0.5488:0.1573:0.2939	.	2	Q8NGC7	O11H6_HUMAN	L	2	ENSP00000319071:F2L	ENSP00000319071:F2L	F	+	3	2	OR11H6	19761714	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.153000	0.10144	0.195000	0.20347	-0.417000	0.06048	TTC		0.378	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
OR11H6	122748	broad.mit.edu	37	14	20692382	20692382	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20692382C>A	ENST00000315519.2	+	1	592	c.514C>A	c.(514-516)Ctc>Atc	p.L172I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L172I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AGGCGGATTTCTCTGCTATCC	0.498																																					p.L172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514A	14						.						94.0	92.0	93.0					14																	20692382		2203	4300	6503	19762222	SO:0001583	missense	122748	exon1				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.514C>A	14.37:g.20692382C>A	ENSP00000319071:p.Leu172Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19762222	NM_001004480	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073451	0.36566	.	.	ENSG00000176219	ENST00000315519	T	0.43294	0.95	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000262	T	0.45054	0.1323	L	0.44542	1.39	0.19575	N	0.999966	P	0.45902	0.868	P	0.52758	0.708	T	0.33624	-0.9861	10	0.41790	T	0.15	.	9.1953	0.37224	0.0:0.9031:0.0:0.0969	.	172	Q8NGC7	O11H6_HUMAN	I	172	ENSP00000319071:L172I	ENSP00000319071:L172I	L	+	1	0	OR11H6	19762222	0.000000	0.05858	1.000000	0.80357	0.423000	0.31445	0.052000	0.14163	2.570000	0.86706	0.442000	0.29010	CTC		0.498	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
OR11H4	390442	broad.mit.edu	37	14	20711064	20711064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20711064C>A	ENST00000315409.2	+	1	167	c.114C>A	c.(112-114)ttC>ttA	p.F38L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F38L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTTTCCTCTTCTCATTGTTTT	0.443																																					p.F38L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C114A	14						.						84.0	73.0	77.0					14																	20711064		2203	4300	6503	19780904	SO:0001583	missense	390442	exon1				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.114C>A	14.37:g.20711064C>A	ENSP00000318997:p.Phe38Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19780904	NM_001004479	B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150966	0.57151	.	.	ENSG00000176198	ENST00000315409	T	0.04454	3.62	4.52	0.641	0.17759	.	0.000000	0.53938	D	0.000058	T	0.11836	0.0288	M	0.86178	2.8	0.23010	N	0.998434	D	0.57571	0.98	P	0.49752	0.621	T	0.08066	-1.0740	10	0.87932	D	0	-18.2545	7.9014	0.29736	0.0:0.6363:0.0:0.3637	.	38	Q8NGC9	O11H4_HUMAN	L	38	ENSP00000318997:F38L	ENSP00000318997:F38L	F	+	3	2	OR11H4	19780904	0.000000	0.05858	0.490000	0.27465	0.992000	0.81027	-0.530000	0.06179	-0.052000	0.13311	0.655000	0.94253	TTC		0.443	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1		
OR11H4	390442	broad.mit.edu	37	14	20711160	20711160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20711160C>A	ENST00000315409.2	+	1	263	c.210C>A	c.(208-210)taC>taA	p.Y70*		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y70*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CCCCCATGTACTTTCTGCTGG	0.443																																					p.Y70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C210A	14						.						155.0	146.0	149.0					14																	20711160		2203	4300	6503	19781000	SO:0001587	stop_gained	390442	exon1				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.210C>A	14.37:g.20711160C>A	ENSP00000318997:p.Tyr70*	Somatic		Capture	Illumina HiSeq	Phase_I	19781000	NM_001004479	B2RNQ4|Q6IF07	Nonsense_Mutation	SNP	ENST00000315409.2	37	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635090	0.87760	.	.	ENSG00000176198	ENST00000315409	.	.	.	4.62	1.78	0.24846	.	0.000000	0.47455	D	0.000237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.243	8.1631	0.31211	0.0:0.7369:0.0:0.2631	.	.	.	.	X	70	.	ENSP00000318997:Y70X	Y	+	3	2	OR11H4	19781000	0.000000	0.05858	0.978000	0.43139	0.987000	0.75469	-0.400000	0.07241	0.188000	0.20168	0.655000	0.94253	TAC		0.443	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1		
PARP2	10038	broad.mit.edu	37	14	20813195	20813195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20813195C>T	ENST00000250416.5	+	2	178	c.151C>T	c.(151-153)Cct>Tct	p.P51S	PARP2_ENST00000429687.3_Missense_Mutation_p.P51S|RPPH1_ENST00000554988.1_RNA|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000527915.1_Missense_Mutation_p.P51S	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	51					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.P2S(1)|p.P51S(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GAAAAAGATGCCTGTGGCTGG	0.483								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.P51S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C151T	14						.						98.0	104.0	102.0					14																	20813195		1947	4138	6085	19883035	SO:0001583	missense	10038	exon2			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.151C>T	14.37:g.20813195C>T	ENSP00000250416:p.Pro51Ser	Somatic		Capture	Illumina HiSeq	Phase_I	19883035	NM_001042618	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452677	0.43531	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.04917	3.56;3.54;3.53	5.59	1.4	0.22301	.	2.020920	0.02114	N	0.055024	T	0.08537	0.0212	M	0.66939	2.045	0.20074	N	0.999932	B;P	0.35328	0.372;0.495	B;B	0.33750	0.053;0.169	T	0.33803	-0.9854	10	0.26408	T	0.33	-2.2096	1.7966	0.03062	0.1679:0.491:0.1627:0.1784	.	51;51	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	S	51	ENSP00000392972:P51S;ENSP00000250416:P51S;ENSP00000432283:P51S	ENSP00000250416:P51S	P	+	1	0	PARP2	19883035	0.005000	0.15991	0.285000	0.24819	0.330000	0.28571	0.317000	0.19487	0.370000	0.24538	0.557000	0.71058	CCT		0.483	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2		
TEP1	7011	broad.mit.edu	37	14	20863728	20863728	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20863728C>A	ENST00000262715.5	-	12	1849	c.1809G>T	c.(1807-1809)aaG>aaT	p.K603N	TEP1_ENST00000556935.1_Missense_Mutation_p.K495N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	603	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.K603N(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGACGGTTCTTTTCATTTC	0.473																																					p.K603N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1809T	14						.						102.0	99.0	100.0					14																	20863728		2203	4300	6503	19933568	SO:0001583	missense	7011	exon12				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1809G>T	14.37:g.20863728C>A	ENSP00000262715:p.Lys603Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19933568	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481345	0.44147	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.53206	0.65;0.63	5.48	-2.0	0.07433	TROVE (2);	1.233150	0.05525	N	0.562825	T	0.53769	0.1817	M	0.76328	2.33	0.09310	N	1	P;P	0.45634	0.835;0.863	P;P	0.49387	0.474;0.609	T	0.52283	-0.8596	10	0.51188	T	0.08	1.4386	5.6383	0.17548	0.0:0.3913:0.1508:0.4579	.	495;603	G3V5X7;Q99973	.;TEP1_HUMAN	N	603;603;495	ENSP00000262715:K603N;ENSP00000452574:K495N	ENSP00000262715:K603N	K	-	3	2	TEP1	19933568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.143000	0.10296	0.012000	0.14892	-0.345000	0.07892	AAG		0.473	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
RNASE10	338879	broad.mit.edu	37	14	20979072	20979072	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:20979072G>T	ENST00000328444.5	+	1	461	c.442G>T	c.(442-444)Gtc>Ttc	p.V148F	RNASE10_ENST00000430083.1_Missense_Mutation_p.V176F	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	148					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.V148F(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TCTAAACACAGTCAAAGCTGT	0.463																																					p.V148F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442T	14						.						137.0	99.0	112.0					14																	20979072		2203	4300	6503	20048912	SO:0001583	missense	338879	exon1				CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.442G>T	14.37:g.20979072G>T	ENSP00000333358:p.Val148Phe	Somatic		Capture	Illumina HiSeq	Phase_I	20048912	NM_001012975	A2RUQ3|B4DKY4	Missense_Mutation	SNP	ENST00000328444.5	37	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701091	0.48307	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.80909	-1.43;-1.43	4.82	3.9	0.45041	Ribonuclease A, domain (3);	0.260739	0.29722	N	0.011378	D	0.85301	0.5665	M	0.86502	2.82	0.36756	D	0.883039	P;P	0.46020	0.613;0.871	P;P	0.48921	0.458;0.595	D	0.89286	0.3615	10	0.87932	D	0	-4.002	10.3312	0.43823	0.0:0.0:0.804:0.196	.	148;176	Q5GAN6;B4DKY4	RNS10_HUMAN;.	F	176;148	ENSP00000392996:V176F;ENSP00000333358:V148F	ENSP00000333358:V148F	V	+	1	0	RNASE10	20048912	0.833000	0.29383	0.854000	0.33618	0.470000	0.32858	1.224000	0.32539	1.333000	0.45449	0.655000	0.94253	GTC		0.463	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225	
RNASE11	122651	broad.mit.edu	37	14	21052501	21052501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:21052501C>A	ENST00000610205.1	-	3	316	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	RNASE11_ENST00000553849.1_Nonsense_Mutation_p.E45*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.E45*|RNASE11_ENST00000398009.2_Nonsense_Mutation_p.E45*|RNASE11_ENST00000555283.1_Nonsense_Mutation_p.E96*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.E45*|RNASE11_ENST00000432835.2_Nonsense_Mutation_p.E45*	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	45						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.E45*(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTCTGTTTTTCTTGGCCACTT	0.388																																					p.E45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G133T	14						.						218.0	204.0	209.0					14																	21052501		2203	4300	6503	20122341	SO:0001587	stop_gained	122651	exon3			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.133G>T	14.37:g.21052501C>A	ENSP00000476537:p.Glu45*	Somatic		Capture	Illumina HiSeq	Phase_I	20122341	NM_145250		Nonsense_Mutation	SNP	ENST00000610205.1	37	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	8.649	0.897896	0.17686	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	.	.	.	3.52	2.59	0.31030	.	0.830597	0.10085	N	0.717973	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-13.3826	8.0476	0.30559	0.2422:0.7578:0.0:0.0	.	.	.	.	X	45	.	ENSP00000338288:E45X	E	-	1	0	RNASE11	20122341	0.007000	0.16637	0.004000	0.12327	0.090000	0.18270	1.192000	0.32150	1.007000	0.39238	0.511000	0.50034	GAA		0.388	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250	
EDDM3A	10876	broad.mit.edu	37	14	21215911	21215911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:21215911G>T	ENST00000326842.2	+	2	299	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	58					sperm displacement (GO:0007321)	extracellular space (GO:0005615)		p.E58*(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GAGAGAAAAAGAGGCTCTGAA	0.378																																					p.E58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T	14						.						108.0	108.0	108.0					14																	21215911		2203	4300	6503	20285751	SO:0001587	stop_gained	10876	exon2			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.172G>T	14.37:g.21215911G>T	ENSP00000315098:p.Glu58*	Somatic		Capture	Illumina HiSeq	Phase_I	20285751	NM_006683	Q4KN33	Nonsense_Mutation	SNP	ENST00000326842.2	37	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691576	0.48097	.	.	ENSG00000181562	ENST00000326842	.	.	.	2.07	1.05	0.20165	.	0.867132	0.09562	N	0.785457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	6.1334	0.20217	0.0:0.3238:0.6762:0.0	.	.	.	.	X	58	.	ENSP00000315098:E58X	E	+	1	0	EDDM3A	20285751	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	0.007000	0.13174	0.140000	0.18849	0.313000	0.20887	GAG		0.378	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3		
SLC39A2	29986	broad.mit.edu	37	14	21469250	21469250	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:21469250G>A	ENST00000298681.4	+	4	599	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	148					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.E148K(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TCATATCTTCGAACTCCACAG	0.542																																					p.E148K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	14						.						144.0	124.0	131.0					14																	21469250		2203	4300	6503	20539090	SO:0001583	missense	29986	exon4			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.442G>A	14.37:g.21469250G>A	ENSP00000298681:p.Glu148Lys	Somatic		Capture	Illumina HiSeq	Phase_I	20539090	NM_014579	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302284	0.05495	.	.	ENSG00000165794	ENST00000298681	T	0.48522	0.81	5.7	1.72	0.24424	.	1.368040	0.04422	N	0.367732	T	0.37972	0.1023	L	0.50333	1.59	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.20273	-1.0280	10	0.07644	T	0.81	5.5736	4.9717	0.14119	0.2287:0.3044:0.4669:0.0	.	148	Q9NP94	S39A2_HUMAN	K	148	ENSP00000298681:E148K	ENSP00000298681:E148K	E	+	1	0	SLC39A2	20539090	0.002000	0.14202	0.000000	0.03702	0.384000	0.30261	1.218000	0.32467	0.715000	0.32103	0.655000	0.94253	GAA		0.542	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579	
RPGRIP1	57096	broad.mit.edu	37	14	21793439	21793439	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:21793439G>A	ENST00000400017.2	+	15	2264	c.2264G>A	c.(2263-2265)cGt>cAt	p.R755H	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R755H|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R114H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R717H	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	755					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.R371H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATGAGGCTGCGTTTCCCCATA	0.542																																					p.R755H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2264A	14						.						46.0	46.0	46.0					14																	21793439		1891	4108	5999	20863279	SO:0001583	missense	57096	exon15			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2264G>A	14.37:g.21793439G>A	ENSP00000382895:p.Arg755His	Somatic		Capture	Illumina HiSeq	Phase_I	20863279	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927393	0.34002	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.41	-1.62	0.08372	.	0.660669	0.16041	N	0.232427	T	0.82148	0.4974	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.22276	0.054;0.067;0.03;0.067;0.066	B;B;B;B;B	0.14578	0.004;0.009;0.004;0.006;0.011	T	0.70687	-0.4803	10	0.51188	T	0.08	1.8425	10.8395	0.46706	0.6421:0.0:0.3579:0.0	.	138;114;230;371;755	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	H	717;755;755;230;114	ENSP00000451219:R717H;ENSP00000382895:R755H;ENSP00000206660:R755H;ENSP00000451262:R230H;ENSP00000309721:R114H	ENSP00000206660:R755H	R	+	2	0	RPGRIP1	20863279	0.000000	0.05858	0.734000	0.30879	0.998000	0.95712	0.092000	0.15066	-0.193000	0.10415	0.655000	0.94253	CGT		0.542	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
SALL2	6297	broad.mit.edu	37	14	21992045	21992045	+	Missense_Mutation	SNP	G	G	A	rs376577664		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:21992045G>A	ENST00000327430.3	-	2	2111	c.1817C>T	c.(1816-1818)gCg>gTg	p.A606V	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.A469V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	606					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.A606V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGAGGTCACCGCCACAGCTCC	0.587																																					p.A606V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1817T	14						.	G	VAL/ALA	0,4406		0,0,2203	43.0	45.0	44.0		1817	3.8	0.4	14		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	SALL2	NM_005407.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	606/1008	21992045	1,13005	2203	4300	6503	21061885	SO:0001583	missense	6297	exon2			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1817C>T	14.37:g.21992045G>A	ENSP00000333537:p.Ala606Val	Somatic		Capture	Illumina HiSeq	Phase_I	21061885	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.709|7.709	0.694808|0.694808	0.15039|0.15039	0.0|0.0	1.16E-4|1.16E-4	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.04360|.	3.69;3.64|.	4.76|4.76	3.83|3.83	0.44106|0.44106	.|.	0.218854|.	0.23146|.	N|.	0.051404|.	T|T	0.32346|0.32346	0.0826|0.0826	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	P;P;P|.	0.46912|.	0.886;0.886;0.702|.	B;B;B|.	0.38194|.	0.198;0.267;0.073|.	T|T	0.12734|0.12734	-1.0536|-1.0536	10|5	0.33141|.	T|.	0.24|.	-19.2707|-19.2707	10.0333|10.0333	0.42114|0.42114	0.0:0.2229:0.7771:0.0|0.0:0.2229:0.7771:0.0	.|.	469;469;606|.	B4DK65;E7EW59;Q9Y467|.	.;.;SALL2_HUMAN|.	V|W	606;469|465	ENSP00000333537:A606V;ENSP00000396773:A469V|.	ENSP00000333537:A606V|.	A|R	-|-	2|1	0|2	SALL2|SALL2	21061885|21061885	0.304000|0.304000	0.24472|0.24472	0.390000|0.390000	0.26220|0.26220	0.281000|0.281000	0.26958|0.26958	3.242000|3.242000	0.51384|0.51384	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.587	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
MMP14	4323	broad.mit.edu	37	14	23311671	23311671	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:23311671C>T	ENST00000311852.6	+	4	694	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	145					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R145C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CGAGGCCATTCGCAAGGCGTT	0.592																																					p.R145C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C433T	14						.						77.0	53.0	61.0					14																	23311671		2203	4300	6503	22381511	SO:0001583	missense	4323	exon4				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.433C>T	14.37:g.23311671C>T	ENSP00000308208:p.Arg145Cys	Somatic		Capture	Illumina HiSeq	Phase_I	22381511	NM_004995	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631368	0.87660	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	T;T	0.24908	1.83;1.83	5.53	5.53	0.82687	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76583	-0.2906	10	0.87932	D	0	.	18.2247	0.89913	0.0:1.0:0.0:0.0	.	145	P50281	MMP14_HUMAN	C	145;151	ENSP00000308208:R145C;ENSP00000446989:R151C	ENSP00000308208:R145C	R	+	1	0	MMP14	22381511	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.182000	0.42556	2.617000	0.88574	0.561000	0.74099	CGC		0.592	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
LRP10	26020	broad.mit.edu	37	14	23346378	23346378	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:23346378G>A	ENST00000359591.4	+	7	2475	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	595					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G595D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTAGATGGTGGCACAGGTCCA	0.672																																					p.G595D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1784A	14						.						31.0	38.0	36.0					14																	23346378		2200	4296	6496	22416218	SO:0001583	missense	26020	exon7			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1784G>A	14.37:g.23346378G>A	ENSP00000352601:p.Gly595Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22416218	NM_014045	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.162689	0.00318	.	.	ENSG00000197324	ENST00000359591	D	0.91996	-2.95	4.9	1.89	0.25635	.	0.633854	0.17959	N	0.156251	T	0.76428	0.3986	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.62450	-0.6852	10	0.02654	T	1	-14.7552	4.9901	0.14209	0.1944:0.3288:0.4768:0.0	.	595	Q7Z4F1	LRP10_HUMAN	D	595	ENSP00000352601:G595D	ENSP00000352601:G595D	G	+	2	0	LRP10	22416218	0.000000	0.05858	0.217000	0.23759	0.061000	0.15899	-0.137000	0.10389	0.287000	0.22375	0.462000	0.41574	GGC		0.672	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3		
ACIN1	22985	broad.mit.edu	37	14	23528542	23528542	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:23528542G>A	ENST00000262710.1	-	19	4168	c.3841C>T	c.(3841-3843)Cgg>Tgg	p.R1281W	CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.R554W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R522W|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1241W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1223W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R523W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1268W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R523W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1281	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1281W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGTGCTCCCGACGTTTCTCT	0.617											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R554W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1660T	14						.						106.0	83.0	91.0					14																	23528542		2203	4300	6503	22598382	SO:0001583	missense	22985	exon12			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3841C>T	14.37:g.23528542G>A	ENSP00000262710:p.Arg1281Trp	Somatic	764	Capture	Illumina HiSeq	Phase_I	22598382	NM_001164816	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183356	0.38511	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	4.29	1.1	0.20463	.	0.000000	0.37261	N	0.002163	T	0.51295	0.1666	N	0.14661	0.345	0.30455	N	0.774822	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;P;P	0.72075	0.976;0.948;0.948;0.798;0.798	T	0.56353	-0.7993	10	0.87932	D	0	-7.138	10.6726	0.45768	0.0:0.0:0.4787:0.5213	.	1268;1281;1241;554;523	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	522;554;523;1281;1241;523;1268	ENSP00000451138:R522W;ENSP00000345541:R554W;ENSP00000350073:R523W;ENSP00000262710:R1281W;ENSP00000405677:R1241W;ENSP00000380502:R523W;ENSP00000451328:R1268W	ENSP00000262710:R1281W	R	-	1	2	ACIN1	22598382	0.975000	0.34042	0.109000	0.21407	0.719000	0.41307	2.839000	0.48207	0.102000	0.17638	0.563000	0.77884	CGG		0.617	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
CMTM5	116173	broad.mit.edu	37	14	23848249	23848249	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:23848249C>T	ENST00000339180.4	+	4	706	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	CMTM5_ENST00000397227.3_Missense_Mutation_p.R46C|CMTM5_ENST00000555731.1_Missense_Mutation_p.R59C|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.R97C			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	164	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GGACTTCCTGCGCTGTGTCAG	0.602																																					p.R97C												.	.	0			c.C289T	14						.						105.0	88.0	94.0					14																	23848249		2203	4300	6503	22918089	SO:0001583	missense	116173	exon3			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.490C>T	14.37:g.23848249C>T	ENSP00000344819:p.Arg164Cys	None		Capture	Illumina HiSeq	Phase_I	22918089	NM_138460	E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37		.	.	.	.	.	.	.	.	.	.	C	24.4	4.524829	0.85600	.	.	ENSG00000166091	ENST00000359320;ENST00000339180;ENST00000397227;ENST00000555731	T;T;T	0.64991	1.8;-0.13;0.51	5.75	5.75	0.90469	Marvel (1);	0.235256	0.31199	N	0.008071	T	0.81288	0.4791	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.997;0.994;0.998	T	0.83011	-0.0172	9	0.87932	D	0	-20.5471	18.7135	0.91667	0.0:1.0:0.0:0.0	.	59;164;46;97	C9JAI6;Q96DZ9;Q96DZ9-5;Q96DZ9-2	.;CKLF5_HUMAN;.;.	C	97;164;46;59	ENSP00000352270:R97C;ENSP00000344819:R164C;ENSP00000451514:R59C	ENSP00000344819:R164C	R	+	1	0	CMTM5	22918089	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	2.157000	0.42320	2.714000	0.92807	0.561000	0.74099	CGC		0.602	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2		
MYH7	4625	broad.mit.edu	37	14	23886790	23886790	+	Silent	SNP	G	G	A	rs57680382		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:23886790G>A	ENST00000355349.3	-	31	4437	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1425					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.I1425I(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAAGTCCTCGATCTCATTCT	0.617																																					p.I1425I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4275T	14						.	G		0,4406		0,0,2203	131.0	124.0	126.0		4275	-1.5	1.0	14	dbSNP_129	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH7	NM_000257.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1425/1936	23886790	1,13005	2203	4300	6503	22956630	SO:0001819	synonymous_variant	4625	exon31			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4275C>T	14.37:g.23886790G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22956630	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
AP1G2	8906	broad.mit.edu	37	14	24029546	24029546	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:24029546G>A	ENST00000308724.5	-	19	2830	c.2075C>T	c.(2074-2076)gCt>gTt	p.A692V	RP11-66N24.4_ENST00000553985.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A692V|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	692	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.A692V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TAACAGCAAAGCAGGGTTTTC	0.498											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A692V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2075T	14						.						96.0	84.0	88.0					14																	24029546		2203	4300	6503	23099386	SO:0001583	missense	8906	exon20			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.2075C>T	14.37:g.24029546G>A	ENSP00000312442:p.Ala692Val	Somatic	768	Capture	Illumina HiSeq	Phase_I	23099386	NM_003917	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345040	0.41498	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	T;T;T	0.43294	0.95;0.95;0.95	4.97	4.97	0.65823	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.454008	0.20854	N	0.084469	T	0.38453	0.1041	L	0.54323	1.7	0.21967	N	0.999444	B;B	0.29481	0.139;0.245	B;B	0.32465	0.094;0.146	T	0.21042	-1.0257	10	0.22706	T	0.39	0.0086	11.4508	0.50151	0.0:0.1816:0.8184:0.0	.	692;547	O75843;Q86V28	AP1G2_HUMAN;.	V	692;692;461;547;154	ENSP00000312442:A692V;ENSP00000380309:A692V;ENSP00000450805:A154V	ENSP00000312442:A692V	A	-	2	0	AP1G2	23099386	0.314000	0.24563	0.968000	0.41197	0.964000	0.63967	0.960000	0.29253	2.583000	0.87209	0.655000	0.94253	GCT		0.498	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	
MDP1	145553	broad.mit.edu	37	14	24683559	24683559	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:24683559G>T	ENST00000288087.7	-	5	471	c.360C>A	c.(358-360)ttC>ttA	p.F120L	NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F137L|CHMP4A_ENST00000609024.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|MDP1_ENST00000532557.1_Intron|CHMP4A_ENST00000347519.6_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|MDP1_ENST00000396833.2_Intron|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	120						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.F120L(1)		breast(2)|large_intestine(2)|lung(3)	7						CATCATCAAAGAAGATCATCT	0.478																																					p.F120L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C360A	14						.						137.0	130.0	132.0					14																	24683559		2203	4300	6503	23753399	SO:0001583	missense	145553	exon5			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.360C>A	14.37:g.24683559G>T	ENSP00000288087:p.Phe120Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23753399	NM_001199822	Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758557	0.89843	.	.	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97620	-4.46;-4.46	5.0	5.0	0.66597	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.31438	U	0.007650	D	0.97870	0.9300	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97715	1.0193	10	0.52906	T	0.07	-11.885	13.6713	0.62427	0.0:0.0:1.0:0.0	.	120	Q86V88	MGDP1_HUMAN	L	120;137	ENSP00000288087:F120L;ENSP00000431482:F137L	ENSP00000288087:F120L	F	-	3	2	MDP1;NEDD8-MDP1	23753399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.561000	0.53770	2.607000	0.88179	0.655000	0.94253	TTC		0.478	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476	
RIPK3	11035	broad.mit.edu	37	14	24808395	24808395	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:24808395G>A	ENST00000216274.5	-	3	515	c.297C>T	c.(295-297)aaC>aaT	p.N99N	RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.N99N(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ACAAGGAGCCGTTCTCCATGA	0.577																																					p.N99N	Pancreas(58;918 1191 4668 13304 15331)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	14						.						77.0	70.0	72.0					14																	24808395		2203	4300	6503	23878235	SO:0001819	synonymous_variant	11035	exon3			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.297C>T	14.37:g.24808395G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23878235	NM_006871	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	CCDS9628.1																																																																																				0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871	
FOXG1	2290	broad.mit.edu	37	14	29237746	29237746	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:29237746G>A	ENST00000313071.4	+	1	1460	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	FOXG1_ENST00000382535.3_Missense_Mutation_p.V421I	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	421					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V421I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTTCCCCCACGTCCCGCACCC	0.682																																					p.V421I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1261A	14						.						54.0	46.0	49.0					14																	29237746		2203	4300	6503	28307497	SO:0001583	missense	2290	exon1				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1261G>A	14.37:g.29237746G>A	ENSP00000339004:p.Val421Ile	Somatic		Capture	Illumina HiSeq	Phase_I	28307497	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107504	0.56291	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93659	-3.26;-3.26	4.14	4.14	0.48551	.	0.154897	0.41712	U	0.000834	D	0.88837	0.6545	N	0.12182	0.205	0.54753	D	0.999981	D	0.63046	0.992	P	0.47206	0.541	D	0.90723	0.4636	10	0.52906	T	0.07	.	16.7792	0.85559	0.0:0.0:1.0:0.0	.	421	P55316	FOXG1_HUMAN	I	421	ENSP00000371975:V421I;ENSP00000339004:V421I	ENSP00000339004:V421I	V	+	1	0	FOXG1	28307497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.006000	0.58801	0.491000	0.48974	GTC		0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
PRKD1	5587	broad.mit.edu	37	14	30100143	30100143	+	Missense_Mutation	SNP	C	C	T	rs191202207		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:30100143C>T	ENST00000331968.5	-	10	1706	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	PRKD1_ENST00000415220.2_Missense_Mutation_p.E501K	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	493	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E493K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GTAGTGATTTCGAAACAATGA	0.398													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18884	0.0		0.0	False		,,,				2504	0.0				p.E493K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477A	14						.	C	LYS/GLU	0,4406		0,0,2203	133.0	124.0	127.0		1477	5.3	1.0	14		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRKD1	NM_002742.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	493/913	30100143	1,13005	2203	4300	6503	29169894	SO:0001583	missense	5587	exon10				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1477G>A	14.37:g.30100143C>T	ENSP00000333568:p.Glu493Lys	Somatic		Capture	Illumina HiSeq	Phase_I	29169894	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	36	5.609152	0.96637	0.0	1.16E-4	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.26810	1.71;1.71;1.71	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.82823	2.61	0.80722	D	1	D	0.61080	0.989	P	0.57720	0.826	T	0.58148	-0.7687	10	0.66056	D	0.02	-19.3592	19.3637	0.94453	0.0:1.0:0.0:0.0	.	493	Q15139	KPCD1_HUMAN	K	493;501;74	ENSP00000333568:E493K;ENSP00000390535:E501K;ENSP00000447333:E74K	ENSP00000333568:E493K	E	-	1	0	PRKD1	29169894	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.704000	0.84595	2.648000	0.89879	0.655000	0.94253	GAA		0.398	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
HEATR5A	25938	broad.mit.edu	37	14	31785019	31785019	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:31785019G>A	ENST00000389961.3	-	26	4156	c.4157C>T	c.(4156-4158)gCt>gTt	p.A1386V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.A1392V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1386V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1099V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1386								p.A1386V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CATGGTAGAAGCACTTTCATT	0.373																																					p.A1099V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3296T	14						.						73.0	66.0	68.0					14																	31785019		1834	4087	5921	30854770	SO:0001583	missense	25938	exon21			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4157C>T	14.37:g.31785019G>A	ENSP00000374611:p.Ala1386Val	Somatic		Capture	Illumina HiSeq	Phase_I	30854770	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.143405|4.143405	0.77888|0.77888	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.52295|.	0.67;0.67;0.67;0.67|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.051883|.	0.85682|.	D|.	0.000000|.	T|T	0.81664|0.81664	0.4870|0.4870	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	P|.	0.39737|.	0.685|.	P|.	0.46299|.	0.511|.	T|T	0.82321|0.82321	-0.0515|-0.0515	10|5	0.35671|.	T|.	0.21|.	.|.	19.1524|19.1524	0.93495|0.93495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1386|.	Q86XA9-2|.	.|.	V|F	1386;1386;1099;1392|1020	ENSP00000374611:A1386V;ENSP00000405407:A1386V;ENSP00000408681:A1099V;ENSP00000437968:A1392V|.	ENSP00000374611:A1386V|.	A|L	-|-	2|1	0|0	HEATR5A|HEATR5A	30854770|30854770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.667000|9.667000	0.98616|0.98616	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	GCT|CTT		0.373	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
AKAP6	9472	broad.mit.edu	37	14	33046333	33046333	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:33046333T>C	ENST00000280979.4	+	5	2524	c.2354T>C	c.(2353-2355)gTa>gCa	p.V785A	AKAP6_ENST00000557272.1_Missense_Mutation_p.V785A|AKAP6_ENST00000557354.1_Missense_Mutation_p.V785A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	785					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.V785A(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGGGGTTTGTAAACAAACTG	0.358																																					p.V785A	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2354C	14						.						77.0	78.0	78.0					14																	33046333		2203	4300	6503	32116084	SO:0001583	missense	9472	exon5			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2354T>C	14.37:g.33046333T>C	ENSP00000280979:p.Val785Ala	Somatic		Capture	Illumina HiSeq	Phase_I	32116084	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401501	0.62288	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.43688	0.94;0.94;0.94	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000005	T	0.51346	0.1669	N	0.25647	0.755	0.53005	D	0.99996	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.55679	-0.8103	10	0.62326	D	0.03	-9.2927	14.6261	0.68621	0.0:0.0:0.0:1.0	.	785;785	A7E242;Q13023	.;AKAP6_HUMAN	A	785	ENSP00000280979:V785A;ENSP00000450531:V785A;ENSP00000451247:V785A	ENSP00000280979:V785A	V	+	2	0	AKAP6	32116084	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.687000	0.74552	1.842000	0.53543	0.460000	0.39030	GTA		0.358	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33205046	33205046	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:33205046G>T	ENST00000280979.4	+	11	3500	c.3330G>T	c.(3328-3330)aaG>aaT	p.K1110N	AKAP6_ENST00000557272.1_Missense_Mutation_p.K1110N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1110					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.K1110N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACAAGAAAAGGAAGGAACAA	0.363																																					p.K1110N	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3330T	14						.						75.0	83.0	80.0					14																	33205046		2203	4300	6503	32274797	SO:0001583	missense	9472	exon11			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3330G>T	14.37:g.33205046G>T	ENSP00000280979:p.Lys1110Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32274797	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719863	0.30503	.	.	ENSG00000151320	ENST00000280979;ENST00000557272	T;T	0.35048	1.33;1.33	5.7	3.58	0.41010	.	0.139886	0.50627	D	0.000115	T	0.13329	0.0323	N	0.03608	-0.345	0.80722	D	1	B	0.19200	0.034	B	0.14023	0.01	T	0.07309	-1.0779	10	0.30078	T	0.28	-17.9639	3.2335	0.06756	0.2617:0.0:0.3577:0.3807	.	1110	Q13023	AKAP6_HUMAN	N	1110	ENSP00000280979:K1110N;ENSP00000451247:K1110N	ENSP00000280979:K1110N	K	+	3	2	AKAP6	32274797	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.054000	0.30455	1.325000	0.45301	0.585000	0.79938	AAG		0.363	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
KIAA0391	9692	broad.mit.edu	37	14	35593155	35593155	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:35593155A>G	ENST00000557565.1	+	2	1085	c.704A>G	c.(703-705)gAc>gGc	p.D235G	KIAA0391_ENST00000250377.7_Missense_Mutation_p.D140G|KIAA0391_ENST00000321130.10_Missense_Mutation_p.D235G|KIAA0391_ENST00000534898.4_Missense_Mutation_p.D235G|KIAA0391_ENST00000604948.1_Missense_Mutation_p.D140G|KIAA0391_ENST00000603544.1_Missense_Mutation_p.D235G|KIAA0391_ENST00000605870.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	235					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.D235G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTAGAGGACATCAAAAAA	0.383																																					p.D235G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704G	14						.						46.0	45.0	46.0					14																	35593155		2203	4300	6503	34662906	SO:0001583	missense	9692	exon2			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.704A>G	14.37:g.35593155A>G	ENSP00000454657:p.Asp235Gly	Somatic		Capture	Illumina HiSeq	Phase_I	34662906	NM_014672	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	A	5.692	0.312222	0.10789	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	T;T;T	0.47528	0.86;0.85;0.84	5.21	4.04	0.47022	.	0.414358	0.23724	N	0.045186	T	0.45316	0.1336	M	0.70595	2.14	0.22858	N	0.998641	B;B	0.31599	0.33;0.33	B;B	0.30401	0.115;0.086	T	0.31251	-0.9950	10	0.29301	T	0.29	-3.7957	11.1114	0.48235	0.704:0.296:0.0:0.0	.	235;235	O15091-2;O15091	.;MRRP3_HUMAN	G	140;140;235;235;235	ENSP00000250377:D140G;ENSP00000324697:D235G;ENSP00000440915:D235G	ENSP00000250377:D140G	D	+	2	0	KIAA0391	34662906	0.989000	0.36119	0.121000	0.21740	0.207000	0.24258	3.725000	0.54970	0.797000	0.33971	0.455000	0.32223	GAC		0.383	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
RALGAPA1	253959	broad.mit.edu	37	14	36142176	36142176	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:36142176A>C	ENST00000389698.3	-	24	3842	c.3452T>G	c.(3451-3453)cTt>cGt	p.L1151R	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L1151R|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1198R|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1164R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1151					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1151R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTACAAATAAGTTTATATGC	0.259																																					p.L1151R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3452G	14						.						54.0	54.0	54.0					14																	36142176		2187	4267	6454	35211927	SO:0001583	missense	253959	exon24			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3452T>G	14.37:g.36142176A>C	ENSP00000374348:p.Leu1151Arg	Somatic		Capture	Illumina HiSeq	Phase_I	35211927	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283054	0.80803	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.44	5.44	0.79542	.	0.140674	0.50627	D	0.000107	T	0.81437	0.4822	M	0.73598	2.24	0.58432	D	0.999999	P;P;D;D	0.89917	0.671;0.726;0.999;1.0	P;P;D;D	0.78314	0.526;0.628;0.965;0.991	D	0.83910	0.0295	10	0.87932	D	0	-14.484	15.782	0.78267	1.0:0.0:0.0:0.0	.	1198;1164;1151;1151	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	R	1151;1151;1151;1198;1164;1198	ENSP00000374348:L1151R;ENSP00000302647:L1151R;ENSP00000258840:L1198R;ENSP00000371803:L1164R;ENSP00000451877:L1198R	ENSP00000258840:L1198R	L	-	2	0	RALGAPA1	35211927	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.910000	0.92685	2.198000	0.70561	0.477000	0.44152	CTT		0.259	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
RALGAPA1	253959	broad.mit.edu	37	14	36217850	36217850	+	Missense_Mutation	SNP	G	G	A	rs368011492		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:36217850G>A	ENST00000389698.3	-	10	1582	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	398					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R398C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAACTCTGCGAACTATTTCA	0.368																																					p.R398C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1192T	14						.						29.0	29.0	29.0					14																	36217850		2201	4292	6493	35287601	SO:0001583	missense	253959	exon10			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1192C>T	14.37:g.36217850G>A	ENSP00000374348:p.Arg398Cys	Somatic		Capture	Illumina HiSeq	Phase_I	35287601	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332062	0.81801	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	L	0.59436	1.845	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.061;1.0;1.0	D;D;B;D;D	0.91635	0.999;0.997;0.063;0.995;0.965	D	0.87137	0.2200	10	0.72032	D	0.01	-5.7891	20.1162	0.97934	0.0:0.0:1.0:0.0	.	398;398;398;398;398	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	C	398	ENSP00000374348:R398C;ENSP00000302647:R398C;ENSP00000258840:R398C;ENSP00000371803:R398C;ENSP00000451877:R398C	ENSP00000258840:R398C	R	-	1	0	RALGAPA1	35287601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.348000	0.52209	2.756000	0.94617	0.655000	0.94253	CGC		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
PNN	5411	broad.mit.edu	37	14	39650724	39650724	+	Missense_Mutation	SNP	G	G	A	rs143703988		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:39650724G>A	ENST00000216832.4	+	9	1878	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	604	Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R604H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		agtagcagtcgcagtagttcc	0.498																																					p.R604H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1811A	14						.	G	HIS/ARG	0,4402		0,0,2201	67.0	58.0	61.0		1811	6.0	1.0	14	dbSNP_134	61	1,8597		0,1,4298	no	missense	PNN	NM_002687.3	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	604/718	39650724	1,12999	2201	4299	6500	38720475	SO:0001583	missense	5411	exon9			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1811G>A	14.37:g.39650724G>A	ENSP00000216832:p.Arg604His	Somatic		Capture	Illumina HiSeq	Phase_I	38720475	NM_002687	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818920	0.32145	0.0	1.16E-4	ENSG00000100941	ENST00000216832	T	0.50548	0.74	6.01	6.01	0.97437	.	0.429592	0.24518	N	0.037828	T	0.71626	0.3362	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.72814	-0.4179	10	0.66056	D	0.02	-6.0717	20.1315	0.98000	0.0:0.0:1.0:0.0	.	604	Q9H307	PININ_HUMAN	H	604	ENSP00000216832:R604H	ENSP00000216832:R604H	R	+	2	0	PNN	38720475	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.746000	0.62133	2.861000	0.98227	0.650000	0.86243	CGC		0.498	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687	
FSCB	84075	broad.mit.edu	37	14	44975262	44975262	+	Missense_Mutation	SNP	G	G	A	rs147180788		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:44975262G>A	ENST00000340446.4	-	1	1220	c.929C>T	c.(928-930)gCg>gTg	p.A310V	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	310						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A310V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGAATTCTCCGCAACTGCAGT	0.527																																					p.A310V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C929T	14						.	G	VAL/ALA	0,4406		0,0,2203	48.0	50.0	50.0		929	-1.0	0.0	14	dbSNP_134	50	5,8595	4.3+/-15.6	0,5,4295	yes	missense	FSCB	NM_032135.3	64	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	310/826	44975262	5,13001	2203	4300	6503	44045012	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.929C>T	14.37:g.44975262G>A	ENSP00000344579:p.Ala310Val	Somatic		Capture	Illumina HiSeq	Phase_I	44045012	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204455	0.38905	0.0	5.81E-4	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.26660	1.72	2.37	-0.993	0.10228	.	.	.	.	.	T	0.28300	0.0699	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	P	0.53689	0.732	T	0.22103	-1.0226	9	0.37606	T	0.19	.	7.8462	0.29426	0.0:0.0:0.5262:0.4738	.	310	Q5H9T9	FSCB_HUMAN	V	310	ENSP00000344579:A310V	ENSP00000344579:A310V	A	-	2	0	FSCB	44045012	0.003000	0.15002	0.002000	0.10522	0.060000	0.15804	0.702000	0.25631	0.106000	0.17784	0.461000	0.40582	GCG		0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
MDGA2	161357	broad.mit.edu	37	14	47324340	47324340	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:47324340G>T	ENST00000399232.2	-	15	2927	c.2563C>A	c.(2563-2565)Cta>Ata	p.L855I	MDGA2_ENST00000357362.3_Missense_Mutation_p.L626I|MDGA2_ENST00000426342.1_Missense_Mutation_p.L626I|MDGA2_ENST00000399222.3_Missense_Mutation_p.L57I|MDGA2_ENST00000439988.3_Missense_Mutation_p.L924I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	855	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L924I(1)|p.L626I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCAAACGTAGATAAACATTT	0.313																																					p.L626I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1876A	14						.						106.0	96.0	99.0					14																	47324340		1803	4059	5862	46394090	SO:0001583	missense	161357	exon15			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2563C>A	14.37:g.47324340G>T	ENSP00000382178:p.Leu855Ile	Somatic		Capture	Illumina HiSeq	Phase_I	46394090	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	18.82	3.706085	0.68615	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.408428	0.16507	U	0.211381	T	0.06645	0.0170	N	0.21617	0.685	0.48185	D	0.999607	P	0.47604	0.898	P	0.57548	0.823	T	0.50466	-0.8825	10	0.54805	T	0.06	.	15.0148	0.71576	0.0:0.0:1.0:0.0	.	855	Q7Z553	MDGA2_HUMAN	I	855;626;924;57;626	ENSP00000400011:L855I;ENSP00000405456:L626I;ENSP00000382178:L924I;ENSP00000382168:L57I;ENSP00000349925:L626I	ENSP00000349925:L626I	L	-	1	2	MDGA2	46394090	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.086000	0.76885	2.187000	0.69744	0.557000	0.71058	CTA		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
NEMF	9147	broad.mit.edu	37	14	50298979	50298979	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:50298979T>G	ENST00000298310.5	-	9	1201	c.752A>C	c.(751-753)aAa>aCa	p.K251T	NEMF_ENST00000546046.1_Missense_Mutation_p.K251T|NEMF_ENST00000545773.1_Missense_Mutation_p.K209T|NEMF_ENST00000556925.1_5'Flank			O60524	NEMF_HUMAN	nuclear export mediator factor	251					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.K251T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TATTTCTCTTTTCTGAATGAT	0.313																																					p.K251T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A752C	14						.						89.0	84.0	86.0					14																	50298979		2203	4299	6502	49368729	SO:0001583	missense	9147	exon9			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.752A>C	14.37:g.50298979T>G	ENSP00000298310:p.Lys251Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49368729	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753696	0.69648	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.33	5.33	0.75918	Fibronectin-binding A, N-terminal (1);	0.050497	0.85682	N	0.000000	T	0.64778	0.2629	M	0.78801	2.425	0.80722	D	1	P;D;D;P;P	0.89917	0.767;1.0;0.998;0.86;0.804	P;D;D;P;P	0.75484	0.661;0.986;0.962;0.544;0.823	T	0.67309	-0.5703	10	0.48119	T	0.1	-19.3161	14.4603	0.67445	0.0:0.0:0.0:1.0	.	251;22;226;209;251	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	T	251;209;251;22;209	ENSP00000298310:K251T;ENSP00000438309:K209T;ENSP00000441016:K251T;ENSP00000452540:K209T	ENSP00000298310:K251T	K	-	2	0	NEMF	49368729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.262000	0.78410	2.017000	0.59298	0.460000	0.39030	AAA		0.313	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
PYGL	5836	broad.mit.edu	37	14	51378966	51378966	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:51378966T>C	ENST00000216392.7	-	14	2008	c.1676A>G	c.(1675-1677)aAc>aGc	p.N559S	PYGL_ENST00000544180.2_Missense_Mutation_p.N525S|PYGL_ENST00000532462.1_Missense_Mutation_p.N559S|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	559					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.N559S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGAGGATGGGTTGATCTTCAC	0.463																																					p.N559S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1676G	14						.						203.0	189.0	194.0					14																	51378966		2203	4300	6503	50448716	SO:0001583	missense	5836	exon14				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1676A>G	14.37:g.51378966T>C	ENSP00000216392:p.Asn559Ser	Somatic		Capture	Illumina HiSeq	Phase_I	50448716	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802214	0.90538	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94184	-3.37;-3.37;-3.24	5.74	5.74	0.90152	.	0.089029	0.85682	D	0.000000	D	0.95239	0.8456	L	0.52011	1.625	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.824	D;D;B	0.71414	0.953;0.973;0.261	D	0.95304	0.8406	10	0.54805	T	0.06	-2.2555	15.2149	0.73258	0.0:0.0:0.0:1.0	.	525;525;559	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	S	559;525;559	ENSP00000431657:N559S;ENSP00000443787:N525S;ENSP00000216392:N559S	ENSP00000216392:N559S	N	-	2	0	PYGL	50448716	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.188000	0.69820	0.460000	0.39030	AAC		0.463	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
PYGL	5836	broad.mit.edu	37	14	51383729	51383729	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:51383729A>G	ENST00000216392.7	-	8	1282	c.950T>C	c.(949-951)tTt>tCt	p.F317S	PYGL_ENST00000544180.2_Missense_Mutation_p.F283S|PYGL_ENST00000532462.1_Missense_Mutation_p.F317S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	317					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.F317S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTGGAGCCAAACTTGGAGGC	0.488																																					p.F317S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T950C	14						.						107.0	98.0	101.0					14																	51383729		2203	4300	6503	50453479	SO:0001583	missense	5836	exon8				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.950T>C	14.37:g.51383729A>G	ENSP00000216392:p.Phe317Ser	Somatic		Capture	Illumina HiSeq	Phase_I	50453479	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783060	0.31593	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93488	-3.23;-3.02;-3.08	5.72	2.05	0.26809	.	0.590904	0.20609	N	0.089017	D	0.93387	0.7891	M	0.77820	2.39	0.33969	D	0.646648	B;B;B	0.30193	0.272;0.191;0.191	B;B;B	0.41571	0.36;0.237;0.159	D	0.92069	0.5663	10	0.45353	T	0.12	-16.9681	9.1216	0.36791	0.79:0.0:0.21:0.0	.	283;317;317	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	S	317;283;317	ENSP00000431657:F317S;ENSP00000443787:F283S;ENSP00000216392:F317S	ENSP00000216392:F317S	F	-	2	0	PYGL	50453479	0.992000	0.36948	0.875000	0.34327	0.478000	0.33099	3.191000	0.50981	0.168000	0.19655	-0.290000	0.09829	TTT		0.488	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
C14orf166	51637	broad.mit.edu	37	14	52471156	52471156	+	Silent	SNP	C	C	A	rs541879996		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:52471156C>A	ENST00000261700.3	+	8	822	c.657C>A	c.(655-657)atC>atA	p.I219I	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	219					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)	p.I219I(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					AGACAAAAATCAACGAAGCCA	0.423																																					p.I219I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657A	14						.						68.0	70.0	70.0					14																	52471156		2203	4300	6503	51540906	SO:0001819	synonymous_variant	51637	exon8			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.657C>A	14.37:g.52471156C>A		Somatic		Capture	Illumina HiSeq	Phase_I	51540906	NM_016039		Silent	SNP	ENST00000261700.3	37	CCDS9705.1																																																																																				0.423	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039	
NID2	22795	broad.mit.edu	37	14	52496400	52496400	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:52496400C>A	ENST00000216286.5	-	10	2265	c.2266G>T	c.(2266-2268)Gac>Tac	p.D756Y	NID2_ENST00000541773.1_Missense_Mutation_p.D703Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	756	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.D756Y(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGAGTGGGGTCTGAATCCTCT	0.517																																					p.D756Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2266T	14						.						83.0	69.0	73.0					14																	52496400		2203	4300	6503	51566150	SO:0001583	missense	22795	exon10			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2266G>T	14.37:g.52496400C>A	ENSP00000216286:p.Asp756Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51566150	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.063470|3.063470	0.55432|0.55432	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	D;D|.	0.84944|.	-1.92;-1.81|.	5.68|5.68	3.87|3.87	0.44632|0.44632	G2 nidogen/fibulin G2F (2);|.	0.978805|.	0.08437|.	N|.	0.946080|.	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	P;P;D;P|.	0.57571|.	0.944;0.955;0.98;0.901|.	P;P;P;B|.	0.53593|.	0.492;0.641;0.73;0.396|.	T|T	0.23297|0.23297	-1.0192|-1.0192	10|5	0.10111|.	T|.	0.7|.	.|.	12.1412|12.1412	0.53998|0.53998	0.0:0.8604:0.0:0.1396|0.0:0.8604:0.0:0.1396	.|.	350;703;758;756|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	Y|I	756;350;703;758|72	ENSP00000216286:D756Y;ENSP00000443730:D703Y|.	ENSP00000216286:D756Y|.	D|R	-|-	1|2	0|0	NID2|NID2	51566150|51566150	0.008000|0.008000	0.16893|0.16893	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	2.307000|2.307000	0.43682|0.43682	0.765000|0.765000	0.33221|0.33221	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
NID2	22795	broad.mit.edu	37	14	52520942	52520942	+	Missense_Mutation	SNP	C	C	T	rs200644684		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:52520942C>T	ENST00000216286.5	-	4	864	c.865G>A	c.(865-867)Gct>Act	p.A289T	NID2_ENST00000541773.1_Missense_Mutation_p.A236T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	289					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.A289T(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGTGGGCAGCGGAAAGGTCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18469	0.001		0.0	False		,,,				2504	0.0				p.A289T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G865A	14						.						50.0	49.0	49.0					14																	52520942		2203	4300	6503	51590692	SO:0001583	missense	22795	exon4			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.865G>A	14.37:g.52520942C>T	ENSP00000216286:p.Ala289Thr	Somatic		Capture	Illumina HiSeq	Phase_I	51590692	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.518	0.463830	0.12402	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.82803	-1.65;-1.53	4.8	-5.42	0.02640	.	1.086760	0.06888	N	0.803690	T	0.58807	0.2148	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.47262	-0.9131	10	0.14252	T	0.57	.	4.8997	0.13767	0.0963:0.4039:0.0983:0.4015	.	236;291;289	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	T	289;236;291	ENSP00000216286:A289T;ENSP00000443730:A236T	ENSP00000216286:A289T	A	-	1	0	NID2	51590692	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.731000	0.04909	-1.178000	0.02741	-1.631000	0.00782	GCT		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
ERO1L	30001	broad.mit.edu	37	14	53124709	53124709	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:53124709C>A	ENST00000395686.3	-	11	957	c.734G>T	c.(733-735)aGa>aTa	p.R245I		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	245					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.R245I(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GTAGAATGCTCTTTTTTCTAC	0.308																																					p.R245I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G734T	14						.						85.0	83.0	84.0					14																	53124709		2202	4298	6500	52194459	SO:0001583	missense	30001	exon11			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.734G>T	14.37:g.53124709C>A	ENSP00000379042:p.Arg245Ile	Somatic		Capture	Illumina HiSeq	Phase_I	52194459	NM_014584	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839769	0.91117	.	.	ENSG00000197930	ENST00000395686	T	0.49720	0.77	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85097	0.0955	10	0.87932	D	0	-19.8976	20.2576	0.98430	0.0:1.0:0.0:0.0	.	245	Q96HE7	ERO1A_HUMAN	I	245	ENSP00000379042:R245I	ENSP00000379042:R245I	R	-	2	0	ERO1L	52194459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.140000	0.77322	2.783000	0.95769	0.655000	0.94253	AGA		0.308	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584	
FERMT2	10979	broad.mit.edu	37	14	53417181	53417181	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:53417181T>C	ENST00000395631.2	-	2	322	c.106A>G	c.(106-108)Acc>Gcc	p.T36A	FERMT2_ENST00000399304.3_Missense_Mutation_p.T36A|FERMT2_ENST00000343279.4_Missense_Mutation_p.T36A|FERMT2_ENST00000553373.1_Missense_Mutation_p.T36A|FERMT2_ENST00000341590.3_Missense_Mutation_p.T36A			Q96AC1	FERM2_HUMAN	fermitin family member 2	36					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.T36A(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACCTCGCCGGTCACTCTCAGG	0.572																																					p.T36A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A106G	14						.						200.0	169.0	180.0					14																	53417181		2203	4300	6503	52486931	SO:0001583	missense	10979	exon2			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.106A>G	14.37:g.53417181T>C	ENSP00000378993:p.Thr36Ala	Somatic		Capture	Illumina HiSeq	Phase_I	52486931	NM_001134999	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188784	0.57909	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554712	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	M	0.62016	1.91	0.80722	D	1	B;B;B	0.29270	0.24;0.155;0.155	B;B;B	0.36092	0.217;0.037;0.108	T	0.36939	-0.9727	10	0.13108	T	0.6	.	13.673	0.62436	0.0:0.0:0.0:1.0	.	36;36;36	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	A	36	ENSP00000378993:T36A;ENSP00000340391:T36A;ENSP00000342858:T36A;ENSP00000451084:T36A;ENSP00000382243:T36A;ENSP00000450506:T36A	ENSP00000340391:T36A	T	-	1	0	FERMT2	52486931	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.687000	0.84139	1.699000	0.51192	0.379000	0.24179	ACC		0.572	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	
SOCS4	122809	broad.mit.edu	37	14	55510449	55510449	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:55510449C>T	ENST00000395472.2	+	2	1022	c.690C>T	c.(688-690)tcC>tcT	p.S230S	SOCS4_ENST00000555846.1_Silent_p.S230S|SOCS4_ENST00000339298.2_Silent_p.S230S	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	230					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.S230S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ATATGGATTCCGATGATGAAA	0.388																																					p.S230S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C690T	14						.						78.0	73.0	75.0					14																	55510449		2203	4300	6503	54580202	SO:0001819	synonymous_variant	122809	exon2			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.690C>T	14.37:g.55510449C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54580202	NM_080867		Silent	SNP	ENST00000395472.2	37	CCDS9722.1																																																																																				0.388	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1		
FBXO34	55030	broad.mit.edu	37	14	55818104	55818104	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:55818104C>A	ENST00000313833.4	+	2	1241	c.996C>A	c.(994-996)gtC>gtA	p.V332V	FBXO34_ENST00000440021.1_Silent_p.V332V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	332								p.V332V(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGAAAGGCGTCTTGGAGGCAC	0.512																																					p.V332V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996A	14						.						110.0	105.0	106.0					14																	55818104		2203	4300	6503	54887857	SO:0001819	synonymous_variant	55030	exon2			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.996C>A	14.37:g.55818104C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54887857	NM_152231	Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	CCDS32086.1																																																																																				0.512	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1		
AP5M1	55745	broad.mit.edu	37	14	57741290	57741290	+	Missense_Mutation	SNP	C	C	A	rs368987446		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:57741290C>A	ENST00000261558.3	+	2	809	c.403C>A	c.(403-405)Ctt>Att	p.L135I	AP5M1_ENST00000431972.2_Missense_Mutation_p.L149I	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	135					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.L135I(1)									CTTTGAATTTCTTTTTGGGAT	0.413																																					p.L135I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403A	14						.	C	ILE/LEU	1,4405	2.1+/-5.4	0,1,2202	55.0	57.0	56.0		403	5.8	1.0	14		56	0,8600		0,0,4300	no	missense	MUDENG	NM_018229.3	5	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	135/491	57741290	1,13005	2203	4300	6503	56811043	SO:0001583	missense	55745	exon2			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.403C>A	14.37:g.57741290C>A	ENSP00000261558:p.Leu135Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56811043	NM_018229	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916031	0.52546	2.27E-4	0.0	ENSG00000053770	ENST00000261558;ENST00000556995;ENST00000431972	T;T	0.53423	0.67;0.62	5.78	5.78	0.91487	.	0.058810	0.64402	D	0.000002	T	0.50274	0.1606	M	0.66939	2.045	0.50313	D	0.999868	P;P	0.51537	0.836;0.946	B;P	0.46253	0.31;0.509	T	0.54423	-0.8296	10	0.62326	D	0.03	.	10.1326	0.42687	0.0:0.7909:0.1378:0.0713	.	135;135	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	I	135;32;149	ENSP00000261558:L135I;ENSP00000390531:L149I	ENSP00000261558:L135I	L	+	1	0	MUDENG	56811043	0.050000	0.20438	1.000000	0.80357	0.996000	0.88848	0.457000	0.21875	2.894000	0.99253	0.591000	0.81541	CTT		0.413	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229	
C14orf105	55195	broad.mit.edu	37	14	57957714	57957714	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:57957714C>A	ENST00000216445.3	-	2	435	c.299G>T	c.(298-300)aGa>aTa	p.R100I	C14orf105_ENST00000422976.2_Missense_Mutation_p.R100I|C14orf105_ENST00000534126.1_Missense_Mutation_p.R100I|C14orf105_ENST00000526336.1_Missense_Mutation_p.R100I	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	100								p.R100I(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TACTTGAAGTCTTTGGGGTGG	0.353																																					p.R100I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G299T	14						.						169.0	168.0	168.0					14																	57957714		2203	4300	6503	57027467	SO:0001583	missense	55195	exon2			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.299G>T	14.37:g.57957714C>A	ENSP00000216445:p.Arg100Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57027467	NM_018168	Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443690	0.83993	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.79329	0.4427	M	0.72894	2.215	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80231	-0.1468	10	0.87932	D	0	-18.5116	17.8003	0.88585	0.0:1.0:0.0:0.0	.	100;100;100;100	F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.;.;.;CN105_HUMAN	I	100	ENSP00000216445:R100I;ENSP00000392368:R100I;ENSP00000434003:R100I;ENSP00000436517:R100I	ENSP00000216445:R100I	R	-	2	0	C14orf105	57027467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.545000	0.60698	2.809000	0.96659	0.650000	0.86243	AGA		0.353	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168	
SLC35F4	341880	broad.mit.edu	37	14	58036531	58036531	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:58036531G>T	ENST00000339762.6	-	6	1208	c.1209C>A	c.(1207-1209)ctC>ctA	p.L403L	SLC35F4_ENST00000556826.1_Silent_p.L367L|SLC35F4_ENST00000554729.1_Silent_p.L244L			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	403					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L403L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCATCCCACAGAGACAGCCCC	0.478																																					p.L403L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1209A	14						.						36.0	42.0	40.0					14																	58036531		2010	4178	6188	57106284	SO:0001819	synonymous_variant	341880	exon6					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1209C>A	14.37:g.58036531G>T		Somatic		Capture	Illumina HiSeq	Phase_I	57106284	NM_001080455	A6NDQ3	Silent	SNP	ENST00000339762.6	37																																																																																					0.478	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	
C14orf37	145407	broad.mit.edu	37	14	58598432	58598432	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:58598432C>A	ENST00000267485.7	-	4	1823	c.1629G>T	c.(1627-1629)atG>atT	p.M543I	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	543						integral component of membrane (GO:0016021)		p.M543I(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGACTGTGTCCATTTGTTCTG	0.458																																					p.M543I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1629T	14						.						106.0	109.0	108.0					14																	58598432		2203	4300	6503	57668185	SO:0001583	missense	145407	exon4				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1629G>T	14.37:g.58598432C>A	ENSP00000267485:p.Met543Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57668185	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316759	0.10845	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22336	1.96	5.25	2.46	0.29980	.	0.583123	0.17349	N	0.177478	T	0.13157	0.0319	L	0.29908	0.895	0.22156	N	0.999329	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.10450	0.001;0.005;0.001;0.001	T	0.32161	-0.9917	10	0.18710	T	0.47	-0.1955	7.6837	0.28528	0.0:0.7315:0.0:0.2685	.	581;543;543;543	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	I	543;581	ENSP00000267485:M543I	ENSP00000267485:M543I	M	-	3	0	C14orf37	57668185	0.001000	0.12720	0.320000	0.25306	0.243000	0.25628	-0.466000	0.06672	0.441000	0.26529	0.650000	0.86243	ATG		0.458	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
ARID4A	5926	broad.mit.edu	37	14	58795012	58795012	+	Nonsense_Mutation	SNP	C	C	T	rs375498932		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:58795012C>T	ENST00000355431.3	+	9	1013	c.640C>T	c.(640-642)Cga>Tga	p.R214*	ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R214*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R214*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R214*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	214					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R214*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGTTTAGTTCGATCATTTAT	0.338																																					p.R214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C640T	14						.	C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	128.0	123.0	125.0		640,640,640	5.5	1.0	14		125	1,8587		0,1,4293	no	stop-gained,stop-gained,stop-gained	ARID4A	NM_002892.3,NM_023000.2,NM_023001.2	,,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,	214/1258,214/1204,214/1189	58795012	1,12993	2203	4294	6497	57864765	SO:0001587	stop_gained	5926	exon9			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.640C>T	14.37:g.58795012C>T	ENSP00000347602:p.Arg214*	Somatic		Capture	Illumina HiSeq	Phase_I	57864765	NM_023000	Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	39	7.510326	0.98329	0.0	1.16E-4	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	.	.	.	5.52	5.52	0.82312	.	0.108147	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5175	19.5157	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	214;214;214;177;214	.	ENSP00000344556:R214X	R	+	1	2	ARID4A	57864765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.805000	0.55575	2.631000	0.89168	0.644000	0.83932	CGA		0.338	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
JKAMP	51528	broad.mit.edu	37	14	59961835	59961835	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:59961835T>G	ENST00000261247.9	+	4	498	c.351T>G	c.(349-351)atT>atG	p.I117M	JKAMP_ENST00000425728.2_Missense_Mutation_p.I111M|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000556985.1_Missense_Mutation_p.I117M|JKAMP_ENST00000356057.5_Missense_Mutation_p.I125M|JKAMP_ENST00000554271.1_Missense_Mutation_p.I131M|RP11-701B16.2_ENST00000554253.1_RNA	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	132					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.I125M(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTCTTTATATTCGTTCATGTC	0.428																																					p.I111M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T333G	14						.						221.0	198.0	206.0					14																	59961835		1952	4141	6093	59031588	SO:0001583	missense	51528	exon4			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.351T>G	14.37:g.59961835T>G	ENSP00000261247:p.Ile117Met	Somatic		Capture	Illumina HiSeq	Phase_I	59031588	NM_001098625	B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	ENST00000261247.9	37	CCDS45116.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936532	0.52972	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.46	1.54	0.23209	.	0.091794	0.85682	D	0.000000	T	0.56963	0.2021	M	0.66939	2.045	0.49915	D	0.999833	P;P;P;P;P	0.44946	0.846;0.815;0.703;0.815;0.703	P;B;B;B;B	0.48030	0.564;0.428;0.336;0.336;0.336	T	0.55823	-0.8080	9	0.72032	D	0.01	-34.5828	5.7059	0.17909	0.1274:0.5924:0.0:0.2802	.	132;131;111;125;117	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	M	117;111;117;131;125;125	.	ENSP00000261247:I117M	I	+	3	3	JKAMP	59031588	1.000000	0.71417	0.987000	0.45799	0.828000	0.46876	1.244000	0.32778	0.362000	0.24319	-1.390000	0.01156	ATT		0.428	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625	
PCNXL4	64430	broad.mit.edu	37	14	60592389	60592389	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:60592389T>G	ENST00000406854.1	+	10	3669	c.3115T>G	c.(3115-3117)Tta>Gta	p.L1039V	PCNXL4_ENST00000317623.4_Missense_Mutation_p.L805V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L1039V|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L805V|PCNXL4_ENST00000535349.1_Missense_Mutation_p.L246V			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1039						integral component of membrane (GO:0016021)		p.L805V(1)|p.L1039V(1)									TAAAGCAAGTTTAGGTCCAAT	0.323																																					p.L805V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2413G	14						.						50.0	50.0	50.0					14																	60592389		2202	4299	6501	59662142	SO:0001583	missense	64430	exon9			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3115T>G	14.37:g.60592389T>G	ENSP00000384801:p.Leu1039Val	Somatic		Capture	Illumina HiSeq	Phase_I	59662142	NM_022495	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	T	20.8	4.057491	0.76074	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.02	5.02	0.67125	.	0.149849	0.45126	D	0.000382	T	0.53997	0.1831	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.966;1.0	P;D	0.87578	0.863;0.998	T	0.55055	-0.8200	10	0.37606	T	0.19	.	5.458	0.16602	0.0:0.2281:0.0:0.7719	.	1039;805	Q63HM2;B5MC47	CN135_HUMAN;.	V	805;1039;805;1039;246	ENSP00000317396:L805V;ENSP00000384801:L1039V;ENSP00000385201:L805V;ENSP00000385713:L1039V;ENSP00000445644:L246V	ENSP00000317396:L805V	L	+	1	2	C14orf135	59662142	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.418000	0.44662	1.882000	0.54519	0.455000	0.32223	TTA		0.323	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	
C14orf39	317761	broad.mit.edu	37	14	60936271	60936271	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:60936271C>T	ENST00000321731.3	-	8	814	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	219					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.E219K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TAATTAATTTCTATTTCCATT	0.259																																					p.E219K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G655A	14						.						41.0	40.0	40.0					14																	60936271		2193	4268	6461	60006024	SO:0001583	missense	317761	exon8			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.655G>A	14.37:g.60936271C>T	ENSP00000324920:p.Glu219Lys	Somatic		Capture	Illumina HiSeq	Phase_I	60006024	NM_174978	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525400	0.44969	.	.	ENSG00000179008	ENST00000321731	T	0.20463	2.07	4.86	3.7	0.42460	.	0.094508	0.45361	D	0.000366	T	0.16811	0.0404	L	0.41079	1.255	0.32738	N	0.508031	P	0.35507	0.506	B	0.40101	0.319	T	0.08617	-1.0713	10	0.33940	T	0.23	-19.139	4.9748	0.14135	0.0:0.7376:0.0:0.2624	.	219	Q8N1H7	S6OS1_HUMAN	K	219	ENSP00000324920:E219K	ENSP00000324920:E219K	E	-	1	0	C14orf39	60006024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.728000	0.47319	2.401000	0.81631	0.585000	0.79938	GAA		0.259	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
SIX6	4990	broad.mit.edu	37	14	60976201	60976201	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:60976201C>T	ENST00000327720.5	+	1	533	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	29					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.R29C(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CGATGTGGAGCGCCTGGGTCG	0.652																																					p.R29C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85T	14						.						41.0	48.0	45.0					14																	60976201		2203	4300	6503	60045954	SO:0001583	missense	4990	exon1			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.85C>T	14.37:g.60976201C>T	ENSP00000328596:p.Arg29Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60045954	NM_007374	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016862	0.54576	.	.	ENSG00000184302	ENST00000327720	D	0.97378	-4.36	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99679	1.0998	10	0.87932	D	0	.	15.8645	0.79055	0.0:0.8644:0.1356:0.0	.	29	O95475	SIX6_HUMAN	C	29	ENSP00000328596:R29C	ENSP00000328596:R29C	R	+	1	0	SIX6	60045954	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.793000	0.55484	1.608000	0.50180	-0.176000	0.13171	CGC		0.652	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2		
SIX4	51804	broad.mit.edu	37	14	61186924	61186924	+	Missense_Mutation	SNP	G	G	T	rs369624724		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:61186924G>T	ENST00000216513.4	-	2	1162	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	368					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S368Y(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTGAATAAAAGAATTTCCATT	0.393																																					p.S368Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1103A	14						.	G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	81.0	78.0	79.0		1103	5.6	1.0	14		79	0,8600		0,0,4300	no	missense	SIX4	NM_017420.4	144	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	368/782	61186924	1,13005	2203	4300	6503	60256677	SO:0001583	missense	51804	exon2			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1103C>A	14.37:g.61186924G>T	ENSP00000216513:p.Ser368Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	60256677	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890359	0.72524	2.27E-4	0.0	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.93076	-3.16;0.2	5.62	5.62	0.85841	.	0.060458	0.64402	D	0.000002	D	0.94712	0.8294	L	0.29908	0.895	0.58432	D	0.999997	D;P	0.76494	0.999;0.493	D;B	0.73380	0.98;0.154	D	0.95362	0.8456	10	0.87932	D	0	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	360;368	G3V2N2;Q9UIU6	.;SIX4_HUMAN	Y	368;41;360	ENSP00000216513:S368Y;ENSP00000451537:S41Y	ENSP00000216513:S368Y	S	-	2	0	SIX4	60256677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.229000	0.95273	2.660000	0.90430	0.655000	0.94253	TCT		0.393	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
SIX4	51804	broad.mit.edu	37	14	61190736	61190736	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:61190736C>A	ENST00000216513.4	-	1	116	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	19					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E19D(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CCATCCCATTCTCTTGCTTGA	0.632																																					p.E19D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G57T	14						.						76.0	84.0	81.0					14																	61190736		2162	4267	6429	60260489	SO:0001583	missense	51804	exon1			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.57G>T	14.37:g.61190736C>A	ENSP00000216513:p.Glu19Asp	Somatic		Capture	Illumina HiSeq	Phase_I	60260489	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	c	13.12	2.143049	0.37825	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92348	-3.02	2.95	0.988	0.19796	.	2.203000	0.02965	U	0.143651	D	0.85008	0.5599	N	0.19112	0.55	0.27471	N	0.952876	B;B	0.23891	0.093;0.014	B;B	0.17433	0.018;0.004	T	0.74802	-0.3541	10	0.62326	D	0.03	.	3.8518	0.08959	0.0:0.4986:0.2189:0.2825	.	11;19	G3V2N2;Q9UIU6	.;SIX4_HUMAN	D	19;11	ENSP00000216513:E19D	ENSP00000216513:E19D	E	-	3	2	SIX4	60260489	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.716000	0.25836	0.546000	0.28920	0.290000	0.19541	GAG		0.632	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
SLC38A6	145389	broad.mit.edu	37	14	61518520	61518520	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:61518520A>G	ENST00000267488.4	+	14	1182	c.1066A>G	c.(1066-1068)Aca>Gca	p.T356A	SLC38A6_ENST00000354886.2_Missense_Mutation_p.T356A|SLC38A6_ENST00000456840.2_Missense_Mutation_p.T333A	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	356					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.T356A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AAAAGCTGTAACAATGATGTT	0.338																																					p.T356A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1066G	14						.						133.0	127.0	129.0					14																	61518520		2203	4300	6503	60588273	SO:0001583	missense	145389	exon14			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1066A>G	14.37:g.61518520A>G	ENSP00000267488:p.Thr356Ala	Somatic		Capture	Illumina HiSeq	Phase_I	60588273	NM_153811	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	A	6.136	0.393242	0.11638	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41	6.02	6.02	0.97574	.	0.439300	0.28665	N	0.014551	T	0.03095	0.0091	L	0.46157	1.445	0.19300	N	0.999972	P;P;B	0.36086	0.536;0.481;0.033	B;B;B	0.37550	0.253;0.164;0.041	T	0.48305	-0.9047	10	0.16420	T	0.52	.	12.1077	0.53821	0.8714:0.0:0.0:0.1285	.	333;356;356	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	A	356;356;351;333;129	ENSP00000346959:T356A;ENSP00000267488:T356A;ENSP00000395851:T351A;ENSP00000413863:T333A;ENSP00000437190:T129A	ENSP00000267488:T356A	T	+	1	0	SLC38A6	60588273	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	2.740000	0.47418	2.304000	0.77564	0.528000	0.53228	ACA		0.338	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
KCNH5	27133	broad.mit.edu	37	14	63447745	63447745	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:63447745C>T	ENST00000322893.7	-	6	1055	c.787G>A	c.(787-789)Gtt>Att	p.V263I	KCNH5_ENST00000394968.1_Missense_Mutation_p.V205I|KCNH5_ENST00000420622.2_Missense_Mutation_p.V263I|KCNH5_ENST00000394964.2_Missense_Mutation_p.V205I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	263					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V263I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAATTTAAAACGATGTCAACC	0.418																																					p.V205I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	14						.						76.0	77.0	76.0					14																	63447745		2203	4300	6503	62517498	SO:0001583	missense	27133	exon6			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.787G>A	14.37:g.63447745C>T	ENSP00000321427:p.Val263Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62517498	NM_172376	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324607	0.81580	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	L	0.46614	1.455	0.80722	D	1	P;P;P;D	0.64830	0.838;0.956;0.809;0.994	B;P;B;P	0.62184	0.28;0.46;0.178;0.899	D	0.97400	0.9995	10	0.20519	T	0.43	.	19.4888	0.95042	0.0:1.0:0.0:0.0	.	205;205;263;263	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	I	263;263;205;205	ENSP00000321427:V263I;ENSP00000395439:V263I;ENSP00000378419:V205I;ENSP00000378415:V205I	ENSP00000321427:V263I	V	-	1	0	KCNH5	62517498	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.764000	0.85297	2.607000	0.88179	0.585000	0.79938	GTT		0.418	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63468150	63468150	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:63468150A>G	ENST00000322893.7	-	4	600	c.332T>C	c.(331-333)aTt>aCt	p.I111T	KCNH5_ENST00000394968.1_Missense_Mutation_p.I53T|KCNH5_ENST00000420622.2_Missense_Mutation_p.I111T|KCNH5_ENST00000394964.2_Missense_Mutation_p.I53T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	111	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.I111T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TATTGGTGCAATTTGCATATA	0.418																																					p.I53T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T158C	14						.						91.0	82.0	85.0					14																	63468150		2203	4300	6503	62537903	SO:0001583	missense	27133	exon4			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.332T>C	14.37:g.63468150A>G	ENSP00000321427:p.Ile111Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62537903	NM_172376	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837810	0.71373	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36	5.64	5.64	0.86602	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.053652	0.64402	D	0.000001	D	0.99616	0.9860	M	0.89353	3.025	0.58432	D	0.999999	B;P;P;D	0.53885	0.149;0.696;0.696;0.963	B;B;B;P	0.55260	0.093;0.301;0.301;0.772	D	0.97730	1.0202	10	0.87932	D	0	.	15.8619	0.79032	1.0:0.0:0.0:0.0	.	53;53;111;111	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	T	111;111;53;53	ENSP00000321427:I111T;ENSP00000395439:I111T;ENSP00000378419:I53T;ENSP00000378415:I53T	ENSP00000321427:I111T	I	-	2	0	KCNH5	62537903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.160000	0.67779	0.482000	0.46254	ATT		0.418	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63483596	63483596	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:63483596G>T	ENST00000322893.7	-	2	418	c.150C>A	c.(148-150)ctC>ctA	p.L50L	KCNH5_ENST00000394968.1_5'UTR|KCNH5_ENST00000420622.2_Silent_p.L50L|KCNH5_ENST00000394964.2_5'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	50	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L50L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATATCCAGAGAGTTTACAAA	0.373																																					p.L50L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C150A	14						.						102.0	93.0	96.0					14																	63483596		2203	4299	6502	62553349	SO:0001819	synonymous_variant	27133	exon2			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.150C>A	14.37:g.63483596G>T		Somatic		Capture	Illumina HiSeq	Phase_I	62553349	NM_172375	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.373	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
SYNE2	23224	broad.mit.edu	37	14	64596924	64596924	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:64596924C>T	ENST00000344113.4	+	76	14510	c.14298C>T	c.(14296-14298)acC>acT	p.T4766T	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.T1151T|SYNE2_ENST00000394768.2_Silent_p.T1151T|SYNE2_ENST00000554584.1_Silent_p.T4683T|SYNE2_ENST00000555002.1_Silent_p.T1400T|SYNE2_ENST00000358025.3_Silent_p.T4766T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4766					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.T4766T(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAACAAACCAAAAGTAAAG	0.443																																					p.T4766T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14298T	14						.						80.0	71.0	74.0					14																	64596924		2203	4300	6503	63666677	SO:0001819	synonymous_variant	23224	exon76			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14298C>T	14.37:g.64596924C>T		Somatic		Capture	Illumina HiSeq	Phase_I	63666677	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ZBTB1	22890	broad.mit.edu	37	14	64989825	64989825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:64989825C>T	ENST00000554015.1	+	4	2034	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	ZBTB1_ENST00000358738.3_Nonsense_Mutation_p.R535*|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Nonsense_Mutation_p.R535*			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	535					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R535*(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CTGCCCTTTTCGATGTCCTAA	0.363																																					p.R535X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1603T	14						.						168.0	172.0	170.0					14																	64989825		2203	4300	6503	64059578	SO:0001587	stop_gained	22890	exon2			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1603C>T	14.37:g.64989825C>T	ENSP00000451000:p.Arg535*	Somatic		Capture	Illumina HiSeq	Phase_I	64059578	NM_014950	A8K6S8|Q86SW8	Nonsense_Mutation	SNP	ENST00000554015.1	37	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	38	7.054066	0.98032	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	.	.	.	5.93	5.04	0.67666	.	1.606370	0.03407	N	0.204248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-11.958	16.4823	0.84161	0.1322:0.8678:0.0:0.0	.	.	.	.	X	535	.	ENSP00000351587:R535X	R	+	1	2	ZBTB1	64059578	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	5.359000	0.66074	1.498000	0.48600	-0.181000	0.13052	CGA		0.363	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1		
SPTB	6710	broad.mit.edu	37	14	65260399	65260399	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:65260399G>T	ENST00000389721.5	-	13	2014	c.1982C>A	c.(1981-1983)tCt>tAt	p.S661Y	SPTB_ENST00000389720.3_Missense_Mutation_p.S661Y|SPTB_ENST00000556626.1_Missense_Mutation_p.S661Y|SPTB_ENST00000542895.1_Missense_Mutation_p.S661Y|SPTB_ENST00000389722.3_Missense_Mutation_p.S661Y	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	661					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.S661Y(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCCAGGGAAGAATAGATCTG	0.552																																					p.S661Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1982A	14						.						123.0	91.0	102.0					14																	65260399		2203	4300	6503	64330152	SO:0001583	missense	6710	exon13				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1982C>A	14.37:g.65260399G>T	ENSP00000374371:p.Ser661Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64330152	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130459	0.77549	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	M	0.87547	2.89	0.58432	D	0.999998	D;D	0.76494	0.995;0.999	D;D	0.77557	0.974;0.99	T	0.81441	-0.0931	10	0.87932	D	0	.	17.7517	0.88436	0.0:0.0:1.0:0.0	.	661;665	P11277;Q59FP5	SPTB1_HUMAN;.	Y	665;661;661;661;661;661	ENSP00000374372:S661Y;ENSP00000451752:S661Y;ENSP00000374371:S661Y;ENSP00000443882:S661Y;ENSP00000374370:S661Y	ENSP00000374370:S661Y	S	-	2	0	SPTB	64330152	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.589000	0.98235	2.494000	0.84150	0.561000	0.74099	TCT		0.552	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
GPHN	10243	broad.mit.edu	37	14	67626169	67626169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:67626169C>T	ENST00000315266.5	+	18	2896	c.1775C>T	c.(1774-1776)gCt>gTt	p.A592V	GPHN_ENST00000305960.9_Missense_Mutation_p.A561V|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.A638V|GPHN_ENST00000478722.1_Missense_Mutation_p.A625V	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	592	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.A625V(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GATCTTCATGCTCAGATCCAT	0.333			T	MLL	AL																																p.A592V			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1775T	14						.						176.0	176.0	176.0					14																	67626169		2203	4300	6503	66695922	SO:0001583	missense	10243	exon18			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1775C>T	14.37:g.67626169C>T	ENSP00000312771:p.Ala592Val	Somatic		Capture	Illumina HiSeq	Phase_I	66695922	NM_001024218	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320930	0.95682	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.66	5.66	0.87406	Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.41906	1.305	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;0.996;0.999	D;D;D;D	0.76575	0.953;0.988;0.941;0.988	D	0.83511	0.0080	10	0.87932	D	0	-8.9495	18.5075	0.90902	0.0:1.0:0.0:0.0	.	561;638;592;625	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	V	592;625;638;561;117	ENSP00000312771:A592V;ENSP00000417901:A625V;ENSP00000438404:A638V;ENSP00000303019:A561V;ENSP00000452009:A117V	ENSP00000303019:A561V	A	+	2	0	GPHN	66695922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.669000	0.90835	0.591000	0.81541	GCT		0.333	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
TMEM229B	161145	broad.mit.edu	37	14	67940542	67940542	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:67940542G>A	ENST00000557006.1	-	4	381	c.99C>T	c.(97-99)ttC>ttT	p.F33F	TMEM229B_ENST00000357461.2_Silent_p.F33F			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	33						integral component of membrane (GO:0016021)		p.F33F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGTTCACCACGAACTCCCAGG	0.622																																					p.F33F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	14						.						51.0	31.0	38.0					14																	67940542		2203	4300	6503	67010295	SO:0001819	synonymous_variant	161145	exon3			AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.99C>T	14.37:g.67940542G>A		Somatic		Capture	Illumina HiSeq	Phase_I	67010295	NM_182526		Silent	SNP	ENST00000557006.1	37	CCDS9783.1																																																																																				0.622	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526	
ZFYVE26	23503	broad.mit.edu	37	14	68249518	68249518	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:68249518G>T	ENST00000347230.4	-	21	4489	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1451M	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1451					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L1451M(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCACAGCTCAGGACTGCATCC	0.483																																					p.L1451M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4351A	14						.						196.0	196.0	196.0					14																	68249518		2203	4300	6503	67319271	SO:0001583	missense	23503	exon21			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4351C>A	14.37:g.68249518G>T	ENSP00000251119:p.Leu1451Met	Somatic		Capture	Illumina HiSeq	Phase_I	67319271	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601687	0.66445	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.54071	0.73;0.59	5.5	3.69	0.42338	.	0.000000	0.64402	D	0.000001	T	0.69269	0.3092	M	0.69823	2.125	0.45056	D	0.998074	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71813	-0.4479	10	0.87932	D	0	-8.854	11.8711	0.52520	0.1393:0.0:0.8607:0.0	.	1451;1451	G3V2D8;Q68DK2	.;ZFY26_HUMAN	M	1451;1430;1451	ENSP00000251119:L1451M;ENSP00000450603:L1451M	ENSP00000251119:L1451M	L	-	1	2	ZFYVE26	67319271	1.000000	0.71417	0.979000	0.43373	0.904000	0.53231	4.289000	0.59013	0.896000	0.36366	0.655000	0.94253	CTG		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
SMOC1	64093	broad.mit.edu	37	14	70490067	70490067	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:70490067G>T	ENST00000381280.4	+	11	1447	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N	SMOC1_ENST00000361956.3_Missense_Mutation_p.K398N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	398	EF-hand 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.K398N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAAGCCCAAGAAATGTGCCC	0.512																																					p.K398N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1194T	14						.						176.0	162.0	167.0					14																	70490067		2203	4300	6503	69559820	SO:0001583	missense	64093	exon11			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1194G>T	14.37:g.70490067G>T	ENSP00000370680:p.Lys398Asn	Somatic		Capture	Illumina HiSeq	Phase_I	69559820	NM_001034852	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301318	0.81136	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.60171	0.21;0.21	5.34	4.45	0.53987	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.951	T	0.74959	-0.3486	10	0.87932	D	0	-23.6812	11.5325	0.50618	0.1456:0.0:0.8544:0.0	.	398;398	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	N	398	ENSP00000355110:K398N;ENSP00000370680:K398N	ENSP00000355110:K398N	K	+	3	2	SMOC1	69559820	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.895000	0.87343	1.372000	0.46190	0.655000	0.94253	AAG		0.512	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1		
ADAM21	8747	broad.mit.edu	37	14	70925406	70925406	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:70925406C>A	ENST00000603540.1	+	2	1448	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.P397H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	397	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P397H(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTGCATAATCCTCCAAGATTG	0.433																																					p.P397H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1190A	14						.						113.0	105.0	108.0					14																	70925406		2203	4300	6503	69995159	SO:0001583	missense	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1190C>A	14.37:g.70925406C>A	ENSP00000474385:p.Pro397His	Somatic		Capture	Illumina HiSeq	Phase_I	69995159	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438919	0.01098	.	.	ENSG00000139985	ENST00000267499	T	0.62788	0.0	4.2	-8.4	0.00965	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.891360	0.01632	N	0.023575	T	0.47563	0.1452	L	0.33668	1.02	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.30822	-0.9965	10	0.30854	T	0.27	.	9.1813	0.37143	0.1141:0.2864:0.0:0.5995	.	397	Q9UKJ8	ADA21_HUMAN	H	397	ENSP00000267499:P397H	ENSP00000267499:P397H	P	+	2	0	ADAM21	69995159	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.785000	0.01767	-2.199000	0.00748	-0.262000	0.10625	CCT		0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAM21	8747	broad.mit.edu	37	14	70925689	70925689	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:70925689G>T	ENST00000603540.1	+	2	1731	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.Q491H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	491	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GATATGTGCAGGACGGGATCC	0.453																																					p.Q491H												.	.	0			c.G1473T	14						.						91.0	84.0	87.0					14																	70925689		2203	4300	6503	69995442	SO:0001583	missense	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1473G>T	14.37:g.70925689G>T	ENSP00000474385:p.Gln491His	None		Capture	Illumina HiSeq	Phase_I	69995442	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020760	0.35606	.	.	ENSG00000139985	ENST00000267499	T	0.01221	5.15	4.35	1.4	0.22301	ADAM, cysteine-rich (1);Blood coagulation inhibitor, Disintegrin (3);	0.186497	0.26163	N	0.025964	T	0.04998	0.0134	M	0.77103	2.36	0.32173	N	0.58138	D	0.58268	0.982	P	0.60345	0.873	T	0.09228	-1.0684	10	0.40728	T	0.16	.	7.4553	0.27264	0.3969:0.0:0.6031:0.0	.	491	Q9UKJ8	ADA21_HUMAN	H	491	ENSP00000267499:Q491H	ENSP00000267499:Q491H	Q	+	3	2	ADAM21	69995442	0.999000	0.42202	1.000000	0.80357	0.746000	0.42486	0.469000	0.22067	0.537000	0.28751	0.460000	0.39030	CAG		0.453	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAM21	8747	broad.mit.edu	37	14	70926006	70926006	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:70926006T>C	ENST00000603540.1	+	2	2048	c.1790T>C	c.(1789-1791)tTa>tCa	p.L597S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L597S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	597	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L597S(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GACTATCATTTAAGGATGAAC	0.423																																					p.L597S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1790C	14						.						148.0	135.0	139.0					14																	70926006		2203	4300	6503	69995759	SO:0001583	missense	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1790T>C	14.37:g.70926006T>C	ENSP00000474385:p.Leu597Ser	Somatic		Capture	Illumina HiSeq	Phase_I	69995759	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	5.644	0.303558	0.10678	.	.	ENSG00000139985	ENST00000267499	T	0.21932	1.98	4.49	3.34	0.38264	ADAM, cysteine-rich (2);	0.521289	0.14242	U	0.331986	T	0.23330	0.0564	M	0.69358	2.11	0.09310	N	1	B	0.28636	0.218	B	0.32090	0.14	T	0.23297	-1.0192	10	0.56958	D	0.05	.	6.1778	0.20453	0.1426:0.0796:0.0:0.7778	.	597	Q9UKJ8	ADA21_HUMAN	S	597	ENSP00000267499:L597S	ENSP00000267499:L597S	L	+	2	0	ADAM21	69995759	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.238000	0.18004	0.865000	0.35603	0.460000	0.39030	TTA		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
PCNX	22990	broad.mit.edu	37	14	71435782	71435782	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:71435782C>T	ENST00000304743.2	+	5	1005	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	PCNX_ENST00000238570.5_Silent_p.L187L|PCNX_ENST00000439984.3_Silent_p.L187L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	187						integral component of membrane (GO:0016021)		p.L187L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGTTTAAGTCTGGGCCAAAG	0.378																																					p.L187L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C559T	14						.						177.0	177.0	177.0					14																	71435782		2203	4300	6503	70505535	SO:0001819	synonymous_variant	22990	exon5			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.559C>T	14.37:g.71435782C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70505535	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1																																																																																				0.378	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
PCNX	22990	broad.mit.edu	37	14	71511895	71511895	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:71511895T>G	ENST00000304743.2	+	20	4359	c.3913T>G	c.(3913-3915)Ttt>Gtt	p.F1305V	PCNX_ENST00000238570.5_Missense_Mutation_p.F1305V|PCNX_ENST00000439984.3_Missense_Mutation_p.F1194V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1305						integral component of membrane (GO:0016021)		p.F1305V(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTGTGGGTTTTGTAACCCA	0.373																																					p.F1305V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3913G	14						.						186.0	164.0	171.0					14																	71511895		2203	4300	6503	70581648	SO:0001583	missense	22990	exon20			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3913T>G	14.37:g.71511895T>G	ENSP00000304192:p.Phe1305Val	Somatic		Capture	Illumina HiSeq	Phase_I	70581648	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438826	0.43326	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.10668	3.24;3.27;2.85	5.72	4.58	0.56647	.	0.123300	0.64402	D	0.000007	T	0.09862	0.0242	L	0.41236	1.265	0.33211	D	0.553455	B;B;B	0.14012	0.004;0.003;0.009	B;B;B	0.15870	0.014;0.005;0.006	T	0.04664	-1.0935	10	0.59425	D	0.04	.	8.4933	0.33112	0.0:0.1508:0.0:0.8492	.	1305;1194;1305	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	V	1305;1305;1194	ENSP00000304192:F1305V;ENSP00000238570:F1305V;ENSP00000396617:F1194V	ENSP00000238570:F1305V	F	+	1	0	PCNX	70581648	0.785000	0.28726	0.988000	0.46212	0.993000	0.82548	1.116000	0.31221	1.118000	0.41863	0.533000	0.62120	TTT		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
RGS6	9628	broad.mit.edu	37	14	72939655	72939655	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:72939655G>A	ENST00000553530.1	+	9	819	c.612G>A	c.(610-612)agG>agA	p.R204R	RGS6_ENST00000556437.1_Silent_p.R204R|RGS6_ENST00000404301.2_Silent_p.R204R|RGS6_ENST00000555571.1_Silent_p.R204R|RGS6_ENST00000406236.4_Silent_p.R204R|RGS6_ENST00000434263.2_Silent_p.R135R|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000343854.6_Silent_p.R204R|RGS6_ENST00000407322.4_Silent_p.R204R|RGS6_ENST00000355512.6_Silent_p.R204R|RGS6_ENST00000553525.1_Silent_p.R204R|RGS6_ENST00000402788.2_Silent_p.R204R|RGS6_ENST00000554782.1_Silent_p.R65R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	204					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R204R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGTCCACAGGCCTGTGGTGA	0.388																																					p.R204R	Ovarian(143;1926 2468 21071 48641)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G612A	14						.						132.0	149.0	143.0					14																	72939655		2203	4300	6503	72009408	SO:0001819	synonymous_variant	9628	exon9			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.612G>A	14.37:g.72939655G>A		Somatic		Capture	Illumina HiSeq	Phase_I	72009408	NM_004296	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	CCDS9808.1																																																																																				0.388	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2		
RBM25	58517	broad.mit.edu	37	14	73538421	73538421	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:73538421G>A	ENST00000261973.7	+	2	357	c.72G>A	c.(70-72)ccG>ccA	p.P24P	RBM25_ENST00000526754.1_Silent_p.P24P|RBM25_ENST00000525321.1_Silent_p.P24P|RBM25_ENST00000527432.1_Silent_p.P24P|RBM25_ENST00000540173.1_Silent_p.P24P	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	24					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P24P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCCACCCCCGCAGTTTCCAG	0.453																																					p.P24P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	14						.						94.0	94.0	94.0					14																	73538421		2203	4300	6503	72608174	SO:0001819	synonymous_variant	58517	exon2			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.72G>A	14.37:g.73538421G>A		Somatic		Capture	Illumina HiSeq	Phase_I	72608174	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	CCDS32113.1																																																																																				0.453	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
PAPLN	89932	broad.mit.edu	37	14	73720621	73720621	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:73720621C>A	ENST00000554301.1	+	11	1417	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	PAPLN_ENST00000340738.5_Silent_p.A391A|PAPLN_ENST00000555445.1_Silent_p.A418A|PAPLN_ENST00000381166.3_Silent_p.A418A|PAPLN_ENST00000427855.1_Silent_p.A418A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	418	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.A391A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCATTCAGGCCTGTAACCTGC	0.701																																					p.A391A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173A	14						.						24.0	25.0	25.0					14																	73720621		2200	4292	6492	72790374	SO:0001819	synonymous_variant	89932	exon11			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1254C>A	14.37:g.73720621C>A		Somatic		Capture	Illumina HiSeq	Phase_I	72790374	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																					0.701	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
ACOT4	122970	broad.mit.edu	37	14	74061989	74061989	+	Silent	SNP	C	C	T	rs530136265		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:74061989C>T	ENST00000326303.4	+	3	1151	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	299					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)	p.L299L(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGAATGCTCTCGTAGGAGGGT	0.493																																					p.L299L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897T	14						.						82.0	80.0	81.0					14																	74061989		2203	4300	6503	73131742	SO:0001819	synonymous_variant	122970	exon3			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.897C>T	14.37:g.74061989C>T		Somatic		Capture	Illumina HiSeq	Phase_I	73131742	NM_152331	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	CCDS9817.1																																																																																				0.493	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331	
NPC2	10577	broad.mit.edu	37	14	74947434	74947434	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:74947434G>T	ENST00000555619.1	-	4	649	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	NPC2_ENST00000434013.2_Missense_Mutation_p.L138I|NPC2_ENST00000541064.1_Intron|MIR4709_ENST00000577272.1_RNA|NPC2_ENST00000557510.1_Missense_Mutation_p.L138I|NPC2_ENST00000238633.2_Missense_Mutation_p.L138I	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	138					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)	p.L138I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		CAGCAGAAGAGACTTTGGTTT	0.428																																					p.L138I	Pancreas(93;260 1497 8575 30964 48133)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412A	14						.						296.0	323.0	314.0					14																	74947434		2203	4300	6503	74017187	SO:0001583	missense	10577	exon4			X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"""epididymal protein 1"""	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.412C>A	14.37:g.74947434G>T	ENSP00000451112:p.Leu138Ile	Somatic		Capture	Illumina HiSeq	Phase_I	74017187	NM_006432	B4DQV7|Q15668|Q29413	Missense_Mutation	SNP	ENST00000555619.1	37	CCDS32121.1	.	.	.	.	.	.	.	.	.	.	G	3.737	-0.054273	0.07362	.	.	ENSG00000119655	ENST00000434013;ENST00000555619;ENST00000238633;ENST00000553490;ENST00000557510	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	6.17	1.22	0.21188	MD-2-related lipid-recognition (3);Immunoglobulin E-set (1);	0.191075	0.45126	D	0.000381	T	0.64080	0.2566	L	0.38175	1.15	0.37909	D	0.9313	B	0.26577	0.153	B	0.33392	0.163	T	0.49113	-0.8973	10	0.15499	T	0.54	-15.6818	6.3084	0.21151	0.3353:0.1189:0.5459:0.0	.	138	P61916	NPC2_HUMAN	I	138	ENSP00000412103:L138I;ENSP00000451112:L138I;ENSP00000238633:L138I;ENSP00000451180:L138I;ENSP00000451206:L138I	ENSP00000238633:L138I	L	-	1	0	NPC2	74017187	0.213000	0.23551	0.083000	0.20561	0.161000	0.22273	0.499000	0.22546	-0.032000	0.13758	0.655000	0.94253	CTC		0.428	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432	
GPATCH2L	55668	broad.mit.edu	37	14	76662251	76662251	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:76662251T>C	ENST00000261530.7	+	9	1290	c.1224T>C	c.(1222-1224)tgT>tgC	p.C408C	GPATCH2L_ENST00000553588.1_Missense_Mutation_p.V29A|GPATCH2L_ENST00000312858.5_Silent_p.C403C|GPATCH2L_ENST00000556675.1_3'UTR	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	408								p.C408C(1)									GACCACCATGTTCACGTGACA	0.423																																					p.C408C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1224C	14						.						204.0	191.0	196.0					14																	76662251		2203	4300	6503	75732004	SO:0001819	synonymous_variant	55668	exon9			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1224T>C	14.37:g.76662251T>C		Somatic		Capture	Illumina HiSeq	Phase_I	75732004	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.212544	0.39102	.	.	ENSG00000089916	ENST00000336993;ENST00000554799;ENST00000553588	.	.	.	5.87	-1.43	0.08884	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.24819	N	0.992592	.	.	.	.	.	.	T	0.55023	-0.8205	5	0.87932	D	0	-29.505	13.0568	0.58984	0.0:0.5129:0.0:0.4871	.	.	.	.	A	402;29;29	.	ENSP00000337200:V402A	V	+	2	0	C14orf118	75732004	0.588000	0.26799	0.968000	0.41197	0.986000	0.74619	-0.654000	0.05354	-0.485000	0.06754	0.482000	0.46254	GTT		0.423	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
TMEM63C	57156	broad.mit.edu	37	14	77712961	77712961	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:77712961C>A	ENST00000298351.4	+	18	1689	c.1545C>A	c.(1543-1545)gtC>gtA	p.V515V		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	515					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.V515V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GTTTGGATGTCTTTCTCCGCT	0.493																																					p.V515V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1545A	14						.						128.0	120.0	123.0					14																	77712961		1943	4142	6085	76782714	SO:0001819	synonymous_variant	57156	exon18				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1545C>A	14.37:g.77712961C>A		Somatic		Capture	Illumina HiSeq	Phase_I	76782714	NM_020431	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	CCDS45141.1																																																																																				0.493	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		
TMEM63C	57156	broad.mit.edu	37	14	77715644	77715644	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:77715644C>T	ENST00000298351.4	+	21	2025	c.1881C>T	c.(1879-1881)taC>taT	p.Y627Y		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	627					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.Y627Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGTTGCTCTACCTGTGCATGA	0.542																																					p.Y627Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1881T	14						.						142.0	141.0	141.0					14																	77715644		2057	4201	6258	76785397	SO:0001819	synonymous_variant	57156	exon21				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1881C>T	14.37:g.77715644C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76785397	NM_020431	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	CCDS45141.1																																																																																				0.542	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		
SAMD15	161394	broad.mit.edu	37	14	77844008	77844008	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:77844008T>C	ENST00000216471.4	+	1	533	c.247T>C	c.(247-249)Tcc>Ccc	p.S83P	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	83								p.S83P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGCGGGACGTCCCAGGAAGG	0.532																																					p.S83P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T247C	14						.						111.0	110.0	111.0					14																	77844008		2203	4300	6503	76913761	SO:0001583	missense	161394	exon1			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.247T>C	14.37:g.77844008T>C	ENSP00000216471:p.Ser83Pro	Somatic		Capture	Illumina HiSeq	Phase_I	76913761	NM_001010860	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311082	0.23821	.	.	ENSG00000100583	ENST00000216471	T	0.27256	1.68	5.15	-10.3	0.00346	.	1.367040	0.05300	N	0.522829	T	0.10465	0.0256	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13899	-1.0492	10	0.19590	T	0.45	1.7345	3.1377	0.06444	0.1848:0.4319:0.1855:0.1978	.	83	Q9P1V8	SAM15_HUMAN	P	83	ENSP00000216471:S83P	ENSP00000216471:S83P	S	+	1	0	SAMD15	76913761	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.912000	0.01582	-2.334000	0.00630	-1.249000	0.01516	TCC		0.532	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
CEP128	145508	broad.mit.edu	37	14	81244280	81244280	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:81244280C>T	ENST00000555265.1	-	16	2697	c.2322G>A	c.(2320-2322)gaG>gaA	p.E774E	CEP128_ENST00000281129.3_Silent_p.E774E			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	774						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.E774E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTTTTTGTTCTCATTTTCAT	0.318																																					p.E774E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2322A	14						.						90.0	91.0	91.0					14																	81244280		2203	4300	6503	80314033	SO:0001819	synonymous_variant	145508	exon15			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2322G>A	14.37:g.81244280C>T		Somatic		Capture	Illumina HiSeq	Phase_I	80314033	NM_152446	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1																																																																																				0.318	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
CEP128	145508	broad.mit.edu	37	14	81251822	81251822	+	Missense_Mutation	SNP	C	C	T	rs573572660		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:81251822C>T	ENST00000555265.1	-	15	2003	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	CEP128_ENST00000281129.3_Missense_Mutation_p.R543Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	543						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R543Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CAATTCCTTTCGAAGATTCTC	0.378																																					p.R543Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1628A	14						.						40.0	36.0	37.0					14																	81251822		2203	4299	6502	80321575	SO:0001583	missense	145508	exon14			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1628G>A	14.37:g.81251822C>T	ENSP00000451162:p.Arg543Gln	Somatic		Capture	Illumina HiSeq	Phase_I	80321575	NM_152446	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.006059	0.35415	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.38887	1.11;1.11	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.41926	0.1180	M	0.62723	1.935	0.80722	D	1	D	0.61697	0.99	P	0.46718	0.525	T	0.30268	-0.9984	10	0.06891	T	0.86	.	13.0972	0.59200	0.0:0.8863:0.0:0.1137	.	543	Q6ZU80	CE128_HUMAN	Q	543	ENSP00000281129:R543Q;ENSP00000451162:R543Q	ENSP00000281129:R543Q	R	-	2	0	CEP128	80321575	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.163000	0.42377	2.876000	0.98609	0.643000	0.83706	CGA		0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
PTPN21	11099	broad.mit.edu	37	14	88938674	88938674	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:88938674C>A	ENST00000556564.1	-	15	3069	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	PTPN21_ENST00000328736.3_Missense_Mutation_p.D929Y	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	929	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.D929Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAAGAACATCTTGGAATCGA	0.418																																					p.D929Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2785T	14						.						200.0	175.0	183.0					14																	88938674		2203	4300	6503	88008427	SO:0001583	missense	11099	exon15			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2785G>T	14.37:g.88938674C>A	ENSP00000452414:p.Asp929Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	88008427	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019334	0.93462	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.18810	2.19;2.19	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62849	-0.6767	10	0.87932	D	0	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	929	Q16825	PTN21_HUMAN	Y	929	ENSP00000330276:D929Y;ENSP00000452414:D929Y	ENSP00000330276:D929Y	D	-	1	0	PTPN21	88008427	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.818000	0.86416	2.776000	0.95493	0.655000	0.94253	GAT		0.418	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
PTPN21	11099	broad.mit.edu	37	14	88945273	88945273	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:88945273C>T	ENST00000556564.1	-	13	2786	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	PTPN21_ENST00000328736.3_Silent_p.P834P	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	834					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.P834P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCCCTAGAGGCGGGAGCCCTT	0.637																																					p.P834P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2502A	14						.						38.0	46.0	44.0					14																	88945273		2201	4297	6498	88015026	SO:0001819	synonymous_variant	11099	exon13			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2502G>A	14.37:g.88945273C>T		Somatic		Capture	Illumina HiSeq	Phase_I	88015026	NM_007039		Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.637	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
TDP1	55775	broad.mit.edu	37	14	90429971	90429971	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:90429971C>A	ENST00000335725.4	+	3	763	c.513C>A	c.(511-513)gtC>gtA	p.V171V	TDP1_ENST00000393452.3_Silent_p.V171V|TDP1_ENST00000555880.1_Silent_p.V171V|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Silent_p.V171V|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	171					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.V171V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCACTAGAGTCTCTGGAGTTA	0.502								Repair of DNA-protein crosslinks																													p.V171V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C513A	14						.						56.0	56.0	56.0					14																	90429971		2203	4300	6503	89499724	SO:0001819	synonymous_variant	55775	exon2			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.513C>A	14.37:g.90429971C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89499724	NM_001008744	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	CCDS9888.1																																																																																				0.502	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319	
CATSPERB	79820	broad.mit.edu	37	14	92136189	92136189	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:92136189C>T	ENST00000256343.3	-	14	1412	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	419					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.R419Q(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAAGTGGCTTCGGGGATGAAA	0.408																																					p.R419Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1256A	14						.						133.0	122.0	126.0					14																	92136189		2203	4300	6503	91205942	SO:0001583	missense	79820	exon14			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1256G>A	14.37:g.92136189C>T	ENSP00000256343:p.Arg419Gln	Somatic		Capture	Illumina HiSeq	Phase_I	91205942	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695766	0.68386	.	.	ENSG00000133962	ENST00000256343	T	0.46451	0.87	5.58	5.58	0.84498	.	0.000000	0.49305	D	0.000147	T	0.60431	0.2268	L	0.58101	1.795	0.33870	D	0.634893	D	0.89917	1.0	D	0.87578	0.998	T	0.68228	-0.5464	10	0.42905	T	0.14	-16.045	15.073	0.72053	0.0:1.0:0.0:0.0	.	419	Q9H7T0	CTSRB_HUMAN	Q	419	ENSP00000256343:R419Q	ENSP00000256343:R419Q	R	-	2	0	CATSPERB	91205942	0.999000	0.42202	1.000000	0.80357	0.859000	0.49053	1.565000	0.36386	2.630000	0.89119	0.462000	0.41574	CGA		0.408	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
TRIP11	9321	broad.mit.edu	37	14	92471873	92471873	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:92471873A>C	ENST00000267622.4	-	11	2820	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	816					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.F816C(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTTCAATAAAAATTTCTTT	0.323			T	PDGFRB	AML																																p.F816C	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2447G	14						.						63.0	69.0	67.0					14																	92471873		2200	4297	6497	91541626	SO:0001583	missense	9321	exon11			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2447T>G	14.37:g.92471873A>C	ENSP00000267622:p.Phe816Cys	Somatic		Capture	Illumina HiSeq	Phase_I	91541626	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.309|6.309	0.425088|0.425088	0.11987|0.11987	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05382|.	3.45|.	5.77|5.77	0.301|0.301	0.15781|0.15781	.|.	0.210803|0.210803	0.50627|0.50627	N|N	0.000117|0.000117	T|T	0.44350|0.44350	0.1289|0.1289	L|L	0.39147|0.39147	1.195|1.195	0.31478|0.31478	N|N	0.667567|0.667567	B;B|.	0.22414|.	0.015;0.069|.	B;B|.	0.22386|.	0.027;0.039|.	T|T	0.50591|0.50591	-0.8810|-0.8810	10|6	0.48119|.	T|.	0.1|.	.|.	14.6387|14.6387	0.68708|0.68708	0.5031:0.4968:0.0:0.0|0.5031:0.4968:0.0:0.0	.|.	552;816|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	C|L	816;552|531	ENSP00000267622:F816C|.	ENSP00000267622:F816C|.	F|F	-|-	2|3	0|2	TRIP11|TRIP11	91541626|91541626	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.696000|0.696000	0.40369|0.40369	2.686000|2.686000	0.46968|0.46968	-0.170000|-0.170000	0.10816|0.10816	0.254000|0.254000	0.18369|0.18369	TTT|TTT		0.323	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
GOLGA5	9950	broad.mit.edu	37	14	93286101	93286101	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:93286101T>C	ENST00000163416.2	+	8	1796	c.1540T>C	c.(1540-1542)Tta>Cta	p.L514L	GOLGA5_ENST00000355976.2_Silent_p.L514L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	514					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.L514L(2)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AAGAGAACAGTTACAGGATCT	0.403			T	RET	papillary thyroid																																p.L514L			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1540C	14						.						126.0	127.0	127.0					14																	93286101		2203	4300	6503	92355854	SO:0001819	synonymous_variant	9950	exon8			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1540T>C	14.37:g.93286101T>C		Somatic		Capture	Illumina HiSeq	Phase_I	92355854	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	ENST00000163416.2	37	CCDS9905.1																																																																																				0.403	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
GOLGA5	9950	broad.mit.edu	37	14	93299614	93299614	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:93299614G>A	ENST00000163416.2	+	10	2123	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	GOLGA5_ENST00000355976.2_Missense_Mutation_p.E623K	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	623					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.E623K(2)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGAGCGCCTCGAACAGCAGAT	0.453			T	RET	papillary thyroid																																p.E623K			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1867A	14						.						135.0	135.0	135.0					14																	93299614		2203	4300	6503	92369367	SO:0001583	missense	9950	exon10			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1867G>A	14.37:g.93299614G>A	ENSP00000163416:p.Glu623Lys	Somatic		Capture	Illumina HiSeq	Phase_I	92369367	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040955	0.75732	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.48522	0.81;0.81	5.18	4.26	0.50523	.	0.000000	0.47852	D	0.000212	T	0.65626	0.2709	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.64158	-0.6473	10	0.20046	T	0.44	-13.7051	15.4854	0.75560	0.0:0.1391:0.8609:0.0	.	623	Q8TBA6	GOGA5_HUMAN	K	623;623;532	ENSP00000163416:E623K;ENSP00000348252:E623K	ENSP00000163416:E623K	E	+	1	0	GOLGA5	92369367	1.000000	0.71417	0.761000	0.31378	0.375000	0.29983	6.605000	0.74155	1.141000	0.42275	0.585000	0.79938	GAA		0.453	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
UNC79	57578	broad.mit.edu	37	14	94084700	94084700	+	Splice_Site	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:94084700G>T	ENST00000393151.2	+	29	4387	c.4387G>T	c.(4387-4389)Ggt>Tgt	p.G1463C	UNC79_ENST00000555664.1_Splice_Site_p.G1463C|UNC79_ENST00000553484.1_Splice_Site_p.G1485C|UNC79_ENST00000256339.4_Splice_Site_p.G1286C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1463					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1286C(1)|p.G1485C(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAAAGAAAAAGGTACATATCT	0.393																																					p.G1286C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3856T	14						.						69.0	63.0	65.0					14																	94084700		2203	4300	6503	93154453	SO:0001630	splice_region_variant	57578	exon29			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4387+1G>T	14.37:g.94084700G>T		Somatic		Capture	Illumina HiSeq	Phase_I	93154453	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.788094	0.90367	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.02	6.02	0.97574	.	.	.	.	.	T	0.33235	0.0856	L	0.29908	0.895	0.58432	D	0.999996	D	0.54772	0.968	P	0.56700	0.804	T	0.01367	-1.1373	9	0.72032	D	0.01	0.0284	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1485	C9JQL1	.	C	1286;1463;1485;1463;1485	ENSP00000256339:G1286C;ENSP00000450868:G1463C;ENSP00000451360:G1485C;ENSP00000376858:G1463C	ENSP00000256339:G1286C	G	+	1	0	KIAA1409	93154453	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.888000	0.92464	2.865000	0.98341	0.655000	0.94253	GGT		0.393	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	Missense_Mutation
UNC79	57578	broad.mit.edu	37	14	94103566	94103566	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:94103566G>T	ENST00000393151.2	+	33	5838	c.5838G>T	c.(5836-5838)caG>caT	p.Q1946H	UNC79_ENST00000555664.1_Missense_Mutation_p.Q1907H|UNC79_ENST00000553484.1_Missense_Mutation_p.Q1968H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q1769H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1946					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1769H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ccacagaacagatacagcctg	0.458																																					p.Q1769H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5307T	14						.						143.0	111.0	122.0					14																	94103566		2203	4300	6503	93173319	SO:0001583	missense	57578	exon33			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5838G>T	14.37:g.94103566G>T	ENSP00000376858:p.Gln1946His	Somatic		Capture	Illumina HiSeq	Phase_I	93173319	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	13.70	2.315585	0.40996	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20598	2.21;2.06;2.21;2.21	5.34	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.14614	0.0353	N	0.19112	0.55	0.31561	N	0.657577	B	0.22541	0.071	B	0.27608	0.081	T	0.07947	-1.0746	10	0.46703	T	0.11	-15.9096	10.2509	0.43368	0.0895:0.0:0.9105:0.0	.	1968	C9JQL1	.	H	1769;1907;1968;1946;1968	ENSP00000256339:Q1769H;ENSP00000450868:Q1907H;ENSP00000451360:Q1968H;ENSP00000376858:Q1946H	ENSP00000256339:Q1769H	Q	+	3	2	KIAA1409	93173319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.306000	0.59117	1.622000	0.50330	0.650000	0.86243	CAG		0.458	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94156470	94156470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:94156470G>A	ENST00000393151.2	+	46	7210	c.7210G>A	c.(7210-7212)Gaa>Aaa	p.E2404K	UNC79_ENST00000555664.1_Missense_Mutation_p.E2365K|UNC79_ENST00000553484.1_Missense_Mutation_p.E2426K|UNC79_ENST00000256339.4_Missense_Mutation_p.E2227K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2404					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2227K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGACCTAAAGAATTCATTGA	0.438																																					p.E2227K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6679A	14						.						154.0	140.0	145.0					14																	94156470		2203	4300	6503	93226223	SO:0001583	missense	57578	exon46			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7210G>A	14.37:g.94156470G>A	ENSP00000376858:p.Glu2404Lys	Somatic		Capture	Illumina HiSeq	Phase_I	93226223	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.900917	0.92035	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.22743	1.94;1.97;1.94;1.94	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.71036	2.16	0.80722	D	1	D	0.61697	0.99	D	0.69307	0.963	T	0.39761	-0.9598	10	0.87932	D	0	-21.3144	20.5632	0.99335	0.0:0.0:1.0:0.0	.	2426	C9JQL1	.	K	2227;2365;2426;2404;2426	ENSP00000256339:E2227K;ENSP00000450868:E2365K;ENSP00000451360:E2426K;ENSP00000376858:E2404K	ENSP00000256339:E2227K	E	+	1	0	KIAA1409	93226223	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GAA		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
PPP4R4	57718	broad.mit.edu	37	14	94708736	94708736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:94708736C>A	ENST00000304338.3	+	11	1411	c.1257C>A	c.(1255-1257)tgC>tgA	p.C419*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	419					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.C419*(1)|p.C419C(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGCTATTTGCTTTTATGAAG	0.323																																					p.C419X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1257A	14						.						191.0	186.0	187.0					14																	94708736		2203	4300	6503	93778489	SO:0001587	stop_gained	57718	exon11			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1257C>A	14.37:g.94708736C>A	ENSP00000305924:p.Cys419*	Somatic		Capture	Illumina HiSeq	Phase_I	93778489	NM_058237	Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	37	6.473271	0.97594	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.27	3.44	0.39384	.	0.222853	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.4445	10.5305	0.44973	0.0:0.7859:0.0:0.2141	.	.	.	.	X	419	.	ENSP00000305924:C419X	C	+	3	2	PPP4R4	93778489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.550000	0.36223	1.217000	0.43442	0.655000	0.94253	TGC		0.323	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PPP4R4	57718	broad.mit.edu	37	14	94733343	94733343	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:94733343A>C	ENST00000304338.3	+	23	2580	c.2426A>C	c.(2425-2427)aAg>aCg	p.K809T		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	809					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.K809T(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GGGTTAGGAAAGACTTCTGTG	0.294																																					p.K809T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2426C	14						.						83.0	82.0	82.0					14																	94733343		2201	4294	6495	93803096	SO:0001583	missense	57718	exon23			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2426A>C	14.37:g.94733343A>C	ENSP00000305924:p.Lys809Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93803096	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976643	0.34848	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.83	4.69	0.59074	.	0.338661	0.31031	N	0.008384	T	0.43500	0.1250	L	0.29908	0.895	0.80722	D	1	P	0.44478	0.836	P	0.45406	0.479	T	0.19647	-1.0299	9	0.27785	T	0.31	-3.7922	10.2185	0.43184	0.9253:0.0:0.0747:0.0	.	809	Q6NUP7	PP4R4_HUMAN	T	809	.	ENSP00000305924:K809T	K	+	2	0	PPP4R4	93803096	1.000000	0.71417	0.928000	0.36995	0.441000	0.31987	3.982000	0.56909	1.044000	0.40200	0.383000	0.25322	AAG		0.294	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
DICER1	23405	broad.mit.edu	37	14	95582972	95582972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:95582972C>A	ENST00000526495.1	-	12	1861	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*	DICER1_ENST00000393063.1_Nonsense_Mutation_p.E524*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E524*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E524*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E524*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	524	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.E524*(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCAACACCCTCTTCTACAATA	0.388			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																												p.E524X		yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1570T	14						.						187.0	206.0	200.0					14																	95582972		2203	4300	6503	94652725	SO:0001587	stop_gained	23405	exon9	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1570G>T	14.37:g.95582972C>A	ENSP00000437256:p.Glu524*	Somatic		Capture	Illumina HiSeq	Phase_I	94652725	NM_001195573	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683864	0.96774	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.06	4.17	0.49024	.	0.101166	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.3547	13.4802	0.61332	0.0:0.9239:0.0:0.0761	.	.	.	.	X	524	.	ENSP00000343745:E524X	E	-	1	0	DICER1	94652725	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.786000	0.85741	1.126000	0.42016	-0.258000	0.10820	GAG		0.388	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
C14orf177	283598	broad.mit.edu	37	14	99183529	99183529	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:99183529C>T	ENST00000325812.2	+	4	715	c.296C>T	c.(295-297)gCt>gTt	p.A99V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	99								p.A99G(1)|p.A99V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ATAATGTCTGCTTCGACCATC	0.413																																					p.A99V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C296T	14						.						136.0	108.0	117.0					14																	99183529		2203	4300	6503	98253282	SO:0001583	missense	283598	exon4			AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.296C>T	14.37:g.99183529C>T	ENSP00000321360:p.Ala99Val	Somatic		Capture	Illumina HiSeq	Phase_I	98253282	NM_182560	Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524595	0.27299	.	.	ENSG00000176605	ENST00000325812	T	0.38722	1.12	3.23	-2.13	0.07144	.	.	.	.	.	T	0.21186	0.0510	N	0.08118	0	0.09310	N	1	P	0.52316	0.952	B	0.44315	0.446	T	0.14924	-1.0455	9	0.87932	D	0	.	4.1663	0.10308	0.3682:0.3969:0.2349:0.0	.	99	Q52M58	CN177_HUMAN	V	99	ENSP00000321360:A99V	ENSP00000321360:A99V	A	+	2	0	C14orf177	98253282	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.535000	0.02210	-0.451000	0.07097	-0.262000	0.10625	GCT		0.413	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560	
BCL11B	64919	broad.mit.edu	37	14	99640499	99640499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:99640499C>T	ENST00000357195.3	-	4	2683	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	BCL11B_ENST00000443726.2_Missense_Mutation_p.E698K|BCL11B_ENST00000345514.2_Missense_Mutation_p.E821K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	892					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E892K(1)|p.E892*(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TAGCTCCTCTCGGCCTGCTCG	0.607			T	TLX3	T-ALL																																p.E892K			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G2674A	14						.						63.0	54.0	57.0					14																	99640499		2203	4300	6503	98710252	SO:0001583	missense	64919	exon4			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2674G>A	14.37:g.99640499C>T	ENSP00000349723:p.Glu892Lys	Somatic		Capture	Illumina HiSeq	Phase_I	98710252	NM_138576	Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205324	0.79127	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13089	2.62;2.65;2.63	4.76	4.76	0.60689	.	0.000000	0.53938	D	0.000050	T	0.09949	0.0244	N	0.08118	0	0.48830	D	0.999717	P;P	0.51653	0.947;0.912	B;B	0.43052	0.406;0.229	T	0.23297	-1.0192	10	0.52906	T	0.07	-5.0509	17.7383	0.88400	0.0:1.0:0.0:0.0	.	821;892	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	K	892;821;698	ENSP00000349723:E892K;ENSP00000280435:E821K;ENSP00000387419:E698K	ENSP00000280435:E821K	E	-	1	0	BCL11B	98710252	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.500000	0.66943	2.194000	0.70268	0.313000	0.20887	GAG		0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
SETD3	84193	broad.mit.edu	37	14	99865106	99865106	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:99865106G>T	ENST00000331768.5	-	13	1854	c.1695C>A	c.(1693-1695)tcC>tcA	p.S565S		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	565					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.S565S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTCATTTTCGGACCTGGTCC	0.463																																					p.S565S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1695A	14						.						229.0	206.0	214.0					14																	99865106		2203	4300	6503	98934859	SO:0001819	synonymous_variant	84193	exon13			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1695C>A	14.37:g.99865106G>T		Somatic		Capture	Illumina HiSeq	Phase_I	98934859	NM_032233	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	37	CCDS9951.1																																																																																				0.463	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	
AHNAK2	113146	broad.mit.edu	37	14	105410997	105410997	+	Silent	SNP	G	G	A	rs546099744		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr14:105410997G>A	ENST00000333244.5	-	7	10910	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3597						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V3597V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACACCTCGACATCGGGGA	0.622													.|||	1	0.000199681	0.0	0.0	5008	,	,		17614	0.001		0.0	False		,,,				2504	0.0				p.V3597V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10791T	14						.						107.0	117.0	114.0					14																	105410997		1983	4148	6131	104482042	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10791C>T	14.37:g.105410997G>A		Somatic		Capture	Illumina HiSeq	Phase_I	104482042	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																					p.D50N												.	.	0			c.G148A	15						.																																			19336153	SO:0001628	intergenic_variant	339010	exon1																															Unknown.37:g.0C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19336153	NM_207355		Missense_Mutation	SNP		37																																																																																				0	0								
NIPA2	81614	broad.mit.edu	37	15	23006370	23006370	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:23006370A>G	ENST00000337451.3	-	8	1546	c.934T>C	c.(934-936)Tct>Cct	p.S312P	NIPA2_ENST00000359727.4_Missense_Mutation_p.S293P|NIPA2_ENST00000398014.2_Missense_Mutation_p.S312P|NIPA2_ENST00000398013.3_Missense_Mutation_p.S312P|NIPA2_ENST00000539711.2_Missense_Mutation_p.S293P	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	312						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.S293P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TTTCGAAAAGACACAGGCAGA	0.373																																					p.S312P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T934C	15						.						62.0	60.0	60.0					15																	23006370		2203	4300	6503	20557811	SO:0001583	missense	81614	exon7			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.934T>C	15.37:g.23006370A>G	ENSP00000337618:p.Ser312Pro	Somatic		Capture	Illumina HiSeq	Phase_I	20557811	NM_001008860	F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.743121	0.49151	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.90844	-2.74;-2.74;-2.73	5.76	4.62	0.57501	.	0.091321	0.85682	D	0.000000	T	0.81302	0.4794	N	0.08118	0	0.58432	D	0.999999	B;B	0.24920	0.114;0.011	B;B	0.28305	0.088;0.019	T	0.75772	-0.3200	10	0.35671	T	0.21	-17.9739	12.6624	0.56822	0.8763:0.0:0.0:0.1237	.	293;312	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	P	312;312;293;312;293	ENSP00000337618:S312P;ENSP00000381096:S312P;ENSP00000352762:S293P	ENSP00000337618:S312P	S	-	1	0	NIPA2	20557811	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.701000	0.68325	1.078000	0.41014	0.533000	0.62120	TCT		0.373	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
MAGEL2	54551	broad.mit.edu	37	15	23889664	23889664	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:23889664G>T	ENST00000532292.1	-	1	1511	c.1417C>A	c.(1417-1419)Caa>Aaa	p.Q473K		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	356	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCTTTCAATTGATAACCAAAG	0.433																																					p.Q1076K												.	.	0			c.C3226A	15						.						81.0	76.0	78.0					15																	23889664		1895	4132	6027	21440757	SO:0001583	missense	54551	exon1			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1417C>A	15.37:g.23889664G>T	ENSP00000433433:p.Gln473Lys	Somatic		Capture	Illumina HiSeq	Phase_I	21440757	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	37																																																																																					0.433	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
NPAP1	23742	broad.mit.edu	37	15	24921668	24921668	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:24921668A>C	ENST00000329468.2	+	1	1128	c.654A>C	c.(652-654)gaA>gaC	p.E218D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	218					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E218D(1)									AGTTCTCAGAAAACAGCATGA	0.622																																					p.E218D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A654C	15						.						37.0	37.0	37.0					15																	24921668		2203	4300	6503	22472761	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.654A>C	15.37:g.24921668A>C	ENSP00000333735:p.Glu218Asp	Somatic		Capture	Illumina HiSeq	Phase_I	22472761	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.955639	0.34471	.	.	ENSG00000185823	ENST00000329468	T	0.11385	2.78	1.9	-0.719	0.11201	.	2.169050	0.02879	N	0.132585	T	0.17662	0.0424	L	0.38175	1.15	0.09310	N	1	D	0.61697	0.99	D	0.72982	0.979	T	0.34675	-0.9819	10	0.14252	T	0.57	.	2.4523	0.04521	0.5163:0.2955:0.1881:0.0	.	218	Q9NZP6	CO002_HUMAN	D	218	ENSP00000333735:E218D	ENSP00000333735:E218D	E	+	3	2	C15orf2	22472761	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.345000	0.19979	-0.189000	0.10482	-0.782000	0.03352	GAA		0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
UBE3A	7337	broad.mit.edu	37	15	25615832	25615832	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:25615832G>A	ENST00000397954.2	-	4	1497	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C|UBE3A_ENST00000232165.3_Missense_Mutation_p.R497C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	500	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R500C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGTACATGCGAATTCTATTG	0.343																																					p.R497C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1489T	15						.						77.0	72.0	74.0					15																	25615832		2203	4298	6501	23166925	SO:0001583	missense	7337	exon6			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1498C>T	15.37:g.25615832G>A	ENSP00000381045:p.Arg500Cys	Somatic		Capture	Illumina HiSeq	Phase_I	23166925	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286829	0.59867	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.966;0.996	D	0.91061	0.4885	10	0.87932	D	0	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	497;500	Q05086-3;Q05086	.;UBE3A_HUMAN	C	497;497;500;477;477	ENSP00000232165:R497C;ENSP00000381045:R500C;ENSP00000411258:R477C;ENSP00000401265:R477C	ENSP00000232165:R497C	R	-	1	0	UBE3A	23166925	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.573000	0.74009	2.553000	0.86117	0.591000	0.81541	CGC		0.343	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
ATP10A	57194	broad.mit.edu	37	15	25932873	25932873	+	Silent	SNP	G	G	A	rs569239006	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:25932873G>A	ENST00000356865.6	-	16	3379	c.3268C>T	c.(3268-3270)Ctg>Ttg	p.L1090L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1090					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L1090L(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGAAGTACAGCACCATGTTG	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		20900	0.002		0.0	False		,,,				2504	0.0				p.L1090L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3268T	15						.						159.0	148.0	152.0					15																	25932873		2203	4300	6503	23483966	SO:0001819	synonymous_variant	57194	exon16			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3268C>T	15.37:g.25932873G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23483966	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.493	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ATP10A	57194	broad.mit.edu	37	15	25958939	25958939	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:25958939G>A	ENST00000356865.6	-	10	2337	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	742					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F742F(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACGGAATCGAAACCCAGTG	0.602																																					p.F742F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2226T	15						.						85.0	79.0	81.0					15																	25958939		2203	4300	6503	23510032	SO:0001819	synonymous_variant	57194	exon10			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2226C>T	15.37:g.25958939G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23510032	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
OCA2	4948	broad.mit.edu	37	15	28267660	28267660	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:28267660C>T	ENST00000354638.3	-	6	788	c.633G>A	c.(631-633)ccG>ccA	p.P211P	OCA2_ENST00000353809.5_Silent_p.P211P|OCA2_ENST00000382996.2_Silent_p.P211P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	211			Missing (in OCA2; severe).|P -> L (in OCA2). {ECO:0000269|PubMed:12713581}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.P211P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGTTCTCCAGCGGTGATAAGG	0.488									Oculocutaneous Albinism																												p.P211P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G633A	15						.						100.0	92.0	95.0					15																	28267660		2203	4300	6503	25941255	SO:0001819	synonymous_variant	4948	exon6	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.633G>A	15.37:g.28267660C>T		Somatic		Capture	Illumina HiSeq	Phase_I	25941255	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	CCDS10020.1																																																																																				0.488	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
TJP1	7082	broad.mit.edu	37	15	30019012	30019012	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:30019012G>A	ENST00000346128.6	-	17	2758	c.2284C>T	c.(2284-2286)Cgt>Tgt	p.R762C	TJP1_ENST00000356107.6_Missense_Mutation_p.R762C|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000545208.2_Missense_Mutation_p.R762C|TJP1_ENST00000400011.2_Missense_Mutation_p.R766C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	762	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.			R -> A (in Ref. 1; AAA02891). {ECO:0000305}.	apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R762C(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTATTTTTACGAAGTTTATGA	0.373																																					p.R762C	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2284T	15						.						119.0	109.0	112.0					15																	30019012		1837	4083	5920	27806304	SO:0001583	missense	7082	exon17				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2284C>T	15.37:g.30019012G>A	ENSP00000281537:p.Arg762Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27806304	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955763	0.73902	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.69	5.69	0.88448	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.998	T	0.39440	-0.9614	9	.	.	.	.	19.8246	0.96612	0.0:0.0:1.0:0.0	.	755;762;762;766	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	C	762;766;762;762;762	ENSP00000281537:R762C;ENSP00000382890:R766C;ENSP00000441202:R762C;ENSP00000348416:R762C	.	R	-	1	0	TJP1	27806304	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.758000	0.62220	2.676000	0.91093	0.563000	0.77884	CGT		0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
TJP1	7082	broad.mit.edu	37	15	30034980	30034980	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:30034980C>T	ENST00000346128.6	-	9	1490	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	TJP1_ENST00000356107.6_Missense_Mutation_p.R339Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R339Q|TJP1_ENST00000400011.2_Missense_Mutation_p.R343Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	339					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R339Q(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCTCTACTCCGGAGACTGTG	0.383																																					p.R339Q	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	15						.						137.0	119.0	124.0					15																	30034980		1848	4103	5951	27822272	SO:0001583	missense	7082	exon9				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1016G>A	15.37:g.30034980C>T	ENSP00000281537:p.Arg339Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27822272	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232672	0.79688	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.07327	3.21;3.41;3.31;3.2	5.6	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80183	2.485	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.392	D;D;D;B	0.70227	0.929;0.968;0.943;0.049	T	0.01452	-1.1351	9	.	.	.	.	12.3501	0.55143	0.0:0.8644:0.0:0.1356	.	332;339;339;343	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Q	339;343;339;339;339	ENSP00000281537:R339Q;ENSP00000382890:R343Q;ENSP00000441202:R339Q;ENSP00000348416:R339Q	.	R	-	2	0	TJP1	27822272	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	7.118000	0.77137	0.733000	0.32492	0.462000	0.41574	CGG		0.383	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
FAN1	22909	broad.mit.edu	37	15	31197239	31197239	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:31197239A>G	ENST00000362065.4	+	2	664	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	FAN1_ENST00000561594.1_Missense_Mutation_p.I125V|FAN1_ENST00000565466.1_Missense_Mutation_p.I125V|FAN1_ENST00000561607.1_Missense_Mutation_p.I125V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	125					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.I125V(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAAGCAGAAGATCAGTCCCTA	0.393								Direct reversal of damage																													p.I125V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373G	15						.						80.0	73.0	75.0					15																	31197239		2202	4300	6502	28984531	SO:0001583	missense	22909	exon2				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.373A>G	15.37:g.31197239A>G	ENSP00000354497:p.Ile125Val	Somatic		Capture	Illumina HiSeq	Phase_I	28984531	NM_001146095	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	3.306	-0.141773	0.06669	.	.	ENSG00000198690	ENST00000362065	T	0.79940	-1.32	5.33	4.19	0.49359	.	0.253870	0.43747	D	0.000535	T	0.61912	0.2385	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.46331	-0.9199	10	0.23302	T	0.38	-8.5903	7.1853	0.25797	0.7948:0.0:0.0731:0.1321	.	125;125	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	V	125	ENSP00000354497:I125V	ENSP00000354497:I125V	I	+	1	0	FAN1	28984531	0.360000	0.24964	0.920000	0.36463	0.084000	0.17831	2.980000	0.49321	0.954000	0.37851	-0.728000	0.03583	ATC		0.393	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
MTMR10	54893	broad.mit.edu	37	15	31240660	31240660	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:31240660C>A	ENST00000435680.1	-	13	1319	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	MTMR10_ENST00000314404.8_Missense_Mutation_p.D160Y|MTMR10_ENST00000563714.1_Missense_Mutation_p.D326Y|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	408	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.D326Y(1)|p.D408Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGCTCAAGTCTCTTCCTTCC	0.373																																					p.D408Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1222T	15						.						63.0	55.0	58.0					15																	31240660		1877	4106	5983	29027952	SO:0001583	missense	54893	exon13			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1222G>T	15.37:g.31240660C>A	ENSP00000402537:p.Asp408Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29027952	NM_017762	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610195	0.87258	.	.	ENSG00000166912	ENST00000435680;ENST00000314404;ENST00000340566	D;D	0.96619	-4.07;-4.07	5.69	5.69	0.88448	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.99177	1.0866	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	177;326;326;408	Q0IJ45;Q9NXD2-2;A6NGL9;Q9NXD2	.;.;.;MTMRA_HUMAN	Y	408;160;326	ENSP00000402537:D408Y;ENSP00000313788:D160Y	ENSP00000313788:D160Y	D	-	1	0	MTMR10	29027952	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.442000	0.80503	2.840000	0.97914	0.655000	0.94253	GAC		0.373	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762	
ARHGAP11A	9824	broad.mit.edu	37	15	32929427	32929427	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:32929427C>A	ENST00000361627.3	+	12	3175	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S629Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S629Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	818					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S818Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AACAAGCTTTCTTTAAATGAA	0.358																																					p.S818Y	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2453A	15						.						85.0	90.0	88.0					15																	32929427		2201	4300	6501	30716719	SO:0001583	missense	9824	exon12			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2453C>A	15.37:g.32929427C>A	ENSP00000355090:p.Ser818Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30716719	NM_014783	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641317	0.67244	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.16196	2.36	5.67	4.74	0.60224	.	0.000000	0.56097	D	0.000026	T	0.39627	0.1085	M	0.77616	2.38	0.35013	D	0.757079	D	0.89917	1.0	D	0.70227	0.968	T	0.53767	-0.8392	10	0.87932	D	0	.	10.5407	0.45031	0.0:0.7982:0.1312:0.0706	.	818	Q6P4F7	RHGBA_HUMAN	Y	818;629	ENSP00000355090:S818Y	ENSP00000355090:S818Y	S	+	2	0	ARHGAP11A	30716719	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.963000	0.49184	2.665000	0.90641	0.591000	0.81541	TCT		0.358	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
FMN1	342184	broad.mit.edu	37	15	33359442	33359442	+	Intron	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:33359442C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.S215N|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.S215N			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S215N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTCCAGTTTGCTGCTCATCTC	0.532																																					p.S215N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	15						.						50.0	52.0	51.0					15																	33359442		1988	4165	6153	31146734	SO:0001627	intron_variant	342184	exon1			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2167G>A	15.37:g.33359442C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31146734	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	6.400	0.441991	0.12164	.	.	ENSG00000248905	ENST00000334528	T	0.46063	0.88	5.23	-0.107	0.13592	.	.	.	.	.	T	0.25005	0.0607	.	.	.	.	.	.	B;B	0.23806	0.091;0.001	B;B	0.19666	0.026;0.007	T	0.24333	-1.0163	7	0.29301	T	0.29	.	6.1806	0.20470	0.0:0.5125:0.2267:0.2608	.	215;215	Q68DA7-3;Q68DA7-5	.;.	N	215	ENSP00000333950:S215N	ENSP00000333950:S215N	S	-	2	0	FMN1	31146734	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.036000	0.12185	0.070000	0.16634	0.655000	0.94253	AGC		0.532	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	broad.mit.edu	37	15	33855113	33855113	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:33855113G>A	ENST00000389232.4	+	11	1118	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	RYR3_ENST00000415757.3_Missense_Mutation_p.D350N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	350	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D350N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGTATGGAGATTCTGTCTG	0.443																																					p.D350N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	15						.						107.0	108.0	108.0					15																	33855113		1895	4118	6013	31642405	SO:0001583	missense	6263	exon11				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1048G>A	15.37:g.33855113G>A	ENSP00000373884:p.Asp350Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31642405	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428784	0.96131	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91521	-2.86;-2.86	5.27	5.27	0.74061	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	M	0.74647	2.275	0.80722	D	1	D;P	0.55385	0.971;0.891	P;B	0.55749	0.783;0.412	D	0.94323	0.7555	10	0.72032	D	0.01	.	18.6774	0.91534	0.0:0.0:1.0:0.0	.	350;350	Q15413-2;Q15413	.;RYR3_HUMAN	N	350	ENSP00000373884:D350N;ENSP00000399610:D350N	ENSP00000354735:D350N	D	+	1	0	RYR3	31642405	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.491000	0.97954	2.748000	0.94277	0.655000	0.94253	GAT		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	33916094	33916094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:33916094C>T	ENST00000389232.4	+	20	2514	c.2444C>T	c.(2443-2445)cCa>cTa	p.P815L	RYR3_ENST00000415757.3_Missense_Mutation_p.P815L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	815					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P815L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTTACTTCCAAAAGAGAAG	0.473																																					p.P815L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2444T	15						.						136.0	134.0	135.0					15																	33916094		1897	4128	6025	31703386	SO:0001583	missense	6263	exon20				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2444C>T	15.37:g.33916094C>T	ENSP00000373884:p.Pro815Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31703386	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039503	0.93630	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96992	-4.2;-4.2	4.86	4.86	0.63082	.	0.142989	0.47852	D	0.000206	D	0.97920	0.9316	M	0.74881	2.28	0.80722	D	1	D;B	0.89917	1.0;0.449	D;B	0.83275	0.996;0.17	D	0.98713	1.0705	10	0.72032	D	0.01	.	18.1617	0.89710	0.0:1.0:0.0:0.0	.	815;815	Q15413-2;Q15413	.;RYR3_HUMAN	L	815	ENSP00000373884:P815L;ENSP00000399610:P815L	ENSP00000354735:P815L	P	+	2	0	RYR3	31703386	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.568000	0.82369	2.521000	0.84997	0.563000	0.77884	CCA		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	33954460	33954460	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:33954460G>A	ENST00000389232.4	+	35	4799	c.4729G>A	c.(4729-4731)Gcc>Acc	p.A1577T	RYR3_ENST00000415757.3_Missense_Mutation_p.A1577T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1577	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A1577T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCCGCGTGGCCTACGCCCT	0.597																																					p.A1577T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4729A	15						.						65.0	63.0	64.0					15																	33954460		2062	4229	6291	31741752	SO:0001583	missense	6263	exon35				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4729G>A	15.37:g.33954460G>A	ENSP00000373884:p.Ala1577Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31741752	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302412	0.95601	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98313	-4.86;-4.86	5.1	5.1	0.69264	.	0.131736	0.50627	D	0.000109	D	0.99058	0.9677	M	0.87180	2.865	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.81914	0.995;0.869	D	0.99683	1.0999	10	0.87932	D	0	.	18.7881	0.91963	0.0:0.0:1.0:0.0	.	1577;1577	Q15413-2;Q15413	.;RYR3_HUMAN	T	1577	ENSP00000373884:A1577T;ENSP00000399610:A1577T	ENSP00000354735:A1577T	A	+	1	0	RYR3	31741752	1.000000	0.71417	0.750000	0.31169	0.900000	0.52787	9.601000	0.98297	2.673000	0.90976	0.650000	0.86243	GCC		0.597	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34015016	34015016	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:34015016C>A	ENST00000389232.4	+	44	6790	c.6720C>A	c.(6718-6720)ctC>ctA	p.L2240L	RYR3_ENST00000415757.3_Silent_p.L2240L|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2240	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L2240L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACGGGCTCTTGGCAGCCA	0.572																																					p.L2240L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6720A	15						.						85.0	93.0	90.0					15																	34015016		1979	4140	6119	31802308	SO:0001819	synonymous_variant	6263	exon44				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6720C>A	15.37:g.34015016C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31802308	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
AQR	9716	broad.mit.edu	37	15	35212553	35212553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:35212553C>A	ENST00000156471.5	-	14	1426	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	401					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.E401*(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)		AGAAGAAATTCTTTATCAAAA	0.348																																					p.E401X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1201T	15						.						67.0	65.0	65.0					15																	35212553		1799	4079	5878	32999845	SO:0001587	stop_gained	9716	exon14			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.1201G>T	15.37:g.35212553C>A	ENSP00000156471:p.Glu401*	Somatic		Capture	Illumina HiSeq	Phase_I	32999845	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	38	6.659862	0.97743	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.16	4.1	0.47936	.	0.199898	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.3754	11.4821	0.50331	0.0:0.8936:0.0:0.1064	.	.	.	.	X	401	.	ENSP00000156471:E401X	E	-	1	0	AQR	32999845	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.635000	0.54309	1.155000	0.42497	0.563000	0.77884	GAA		0.348	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
FAM98B	283742	broad.mit.edu	37	15	38773643	38773643	+	Missense_Mutation	SNP	G	G	A	rs112596936		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:38773643G>A	ENST00000491535.1	+	7	888	c.880G>A	c.(880-882)Gca>Aca	p.A294T	FAM98B_ENST00000397609.2_Missense_Mutation_p.A294T	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	294						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.A294T(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GGAGAAGACCGCATGTGCCAT	0.388																																					p.A294T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	15						.						154.0	143.0	147.0					15																	38773643		2200	4297	6497	36560935	SO:0001583	missense	283742	exon7				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.880G>A	15.37:g.38773643G>A	ENSP00000453166:p.Ala294Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36560935	NM_173611	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665163	0.29604	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.71341	-0.56	4.85	2.96	0.34315	.	0.577343	0.19219	N	0.119708	T	0.50939	0.1645	N	0.16602	0.42	0.09310	N	0.999999	B;B	0.26041	0.14;0.006	B;B	0.19946	0.027;0.017	T	0.44787	-0.9305	10	0.44086	T	0.13	-8.9652	9.1831	0.37154	0.2333:0.0:0.7667:0.0	.	294;294	A8MUW5;Q52LJ0	.;FA98B_HUMAN	T	294	ENSP00000380734:A294T	ENSP00000303412:A294T	A	+	1	0	FAM98B	36560935	0.303000	0.24463	0.046000	0.18839	0.637000	0.38172	3.123000	0.50453	1.388000	0.46506	0.467000	0.42956	GCA		0.388	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
EIF2AK4	440275	broad.mit.edu	37	15	40259920	40259920	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40259920C>T	ENST00000263791.5	+	9	1436	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R465C|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R465C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	465	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.R465C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AACCCGAGTTCGTTTTAGTGA	0.498																																					p.R465C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1393T	15						.						134.0	127.0	129.0					15																	40259920		1970	4157	6127	38047212	SO:0001583	missense	440275	exon9			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1393C>T	15.37:g.40259920C>T	ENSP00000263791:p.Arg465Cys	Somatic		Capture	Illumina HiSeq	Phase_I	38047212	NM_001013703	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863276	0.91511	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.73469	-0.75;-0.75	5.63	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052968	0.85682	D	0.000000	T	0.79028	0.4377	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.995;1.0	P;P	0.59825	0.864;0.839	T	0.78497	-0.2181	10	0.38643	T	0.18	-7.9447	15.9909	0.80206	0.1425:0.8575:0.0:0.0	.	465;465	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	C	465	ENSP00000263791:R465C;ENSP00000372174:R465C	ENSP00000263791:R465C	R	+	1	0	EIF2AK4	38047212	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	6.081000	0.71309	1.464000	0.47987	0.650000	0.86243	CGT		0.498	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
PAK6	56924	broad.mit.edu	37	15	40565612	40565612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40565612C>T	ENST00000542403.2	+	6	1667	c.1556C>T	c.(1555-1557)gCt>gTt	p.A519V	PAK6_ENST00000260404.4_Missense_Mutation_p.A519V|PAK6_ENST00000441369.1_Missense_Mutation_p.A519V|PAK6_ENST00000455577.2_Missense_Mutation_p.A519V|PAK6_ENST00000453867.1_Missense_Mutation_p.A519V|PAK6_ENST00000560346.1_Missense_Mutation_p.A519V|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A519D(1)|p.A519V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TACCTGCATGCTCAGGGTGTC	0.612																																					p.A519V												.	.	2	Substitution - Missense(2)	large_intestine(1)|liver(1)	c.C1556T	15						.						101.0	81.0	88.0					15																	40565612		2203	4300	6503	38352904	SO:0001583	missense	56924	exon7			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1556C>T	15.37:g.40565612C>T	ENSP00000439597:p.Ala519Val	Somatic		Capture	Illumina HiSeq	Phase_I	38352904	NM_001128629	A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027170	0.54683	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.40756	2.51;2.51;1.02;2.51;2.51	5.09	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.325637	0.33534	N	0.004801	T	0.37972	0.1023	L	0.52905	1.665	0.37843	D	0.929133	B;B	0.26258	0.102;0.145	B;B	0.23419	0.038;0.046	T	0.41592	-0.9500	10	0.87932	D	0	.	10.4358	0.44435	0.1516:0.7025:0.146:0.0	.	519;519	Q9NQU5;G5E9R2	PAK6_HUMAN;.	V	519	ENSP00000406873:A519V;ENSP00000401153:A519V;ENSP00000409465:A519V;ENSP00000260404:A519V;ENSP00000439597:A519V	ENSP00000260404:A519V	A	+	2	0	PAK6	38352904	0.999000	0.42202	0.995000	0.50966	0.989000	0.77384	4.879000	0.63100	1.087000	0.41251	0.563000	0.77884	GCT		0.612	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1		
PLCB2	5330	broad.mit.edu	37	15	40582872	40582872	+	Splice_Site	SNP	C	C	T	rs373461445		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40582872C>T	ENST00000260402.3	-	29	3364	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N	PLCB2_ENST00000456256.2_Splice_Site_p.D1024N|PLCB2_ENST00000557821.1_Splice_Site_p.D1035N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1039					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D1035N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTTTGGTGTCGCTGCAGAGA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14741	0.0		0.0	False		,,,				2504	0.0				p.D1039N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3115A	15						.	C	ASN/ASP	2,4084		0,2,2041	168.0	170.0	169.0		3115	3.6	1.0	15		169	0,8420		0,0,4210	no	missense-near-splice	PLCB2	NM_004573.2	23	0,2,6251	TT,TC,CC		0.0,0.0489,0.016	benign	1039/1186	40582872	2,12504	2043	4210	6253	38370164	SO:0001630	splice_region_variant	5330	exon29				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3114-1G>A	15.37:g.40582872C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38370164	NM_004573	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900075	0.52227	4.89E-4	0.0	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.48522	0.81;0.81	4.61	3.61	0.41365	PLC-beta, C-terminal (1);	0.486106	0.21841	N	0.068330	T	0.23965	0.0580	N	0.04880	-0.145	0.80722	D	1	B;B;B	0.24368	0.102;0.037;0.045	B;B;B	0.20577	0.03;0.006;0.011	T	0.09335	-1.0679	10	0.49607	T	0.09	.	7.678	0.28497	0.0:0.8367:0.0:0.1633	.	1024;1035;1039	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	N	1039;1024	ENSP00000260402:D1039N;ENSP00000411991:D1024N	ENSP00000260402:D1039N	D	-	1	0	PLCB2	38370164	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.440000	0.52886	2.349000	0.79799	0.561000	0.74099	GAC		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		Missense_Mutation
DISP2	85455	broad.mit.edu	37	15	40657901	40657901	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40657901C>A	ENST00000267889.3	+	7	1007	c.920C>A	c.(919-921)tCc>tAc	p.S307Y		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	307					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.S307Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCATCCATTCCATGTGTCGC	0.562																																					p.S307Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C920A	15						.						155.0	146.0	149.0					15																	40657901		2203	4300	6503	38445193	SO:0001583	missense	85455	exon7			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.920C>A	15.37:g.40657901C>A	ENSP00000267889:p.Ser307Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38445193	NM_033510	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006668	0.93287	.	.	ENSG00000140323	ENST00000267889	T	0.14640	2.49	4.91	4.91	0.64330	.	0.111526	0.64402	D	0.000007	T	0.38825	0.1055	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.26052	-1.0114	10	0.87932	D	0	-27.0147	18.2893	0.90124	0.0:1.0:0.0:0.0	.	307	A7MBM2	DISP2_HUMAN	Y	307	ENSP00000267889:S307Y	ENSP00000267889:S307Y	S	+	2	0	DISP2	38445193	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.311000	0.78958	2.569000	0.86673	0.591000	0.81541	TCC		0.562	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510	
BAHD1	22893	broad.mit.edu	37	15	40757569	40757569	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40757569G>T	ENST00000416165.1	+	6	2159	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.Q693H|BAHD1_ENST00000561234.1_Missense_Mutation_p.Q695H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	696	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.Q696H(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCGACATCAGGACCAGAACA	0.547																																					p.Q696H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2088T	15						.						228.0	160.0	183.0					15																	40757569		2203	4300	6503	38544861	SO:0001583	missense	22893	exon6			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2088G>T	15.37:g.40757569G>T	ENSP00000396976:p.Gln696His	Somatic		Capture	Illumina HiSeq	Phase_I	38544861	NM_014952	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130880	0.77549	.	.	ENSG00000140320	ENST00000416165	D	0.85955	-2.05	5.75	4.84	0.62591	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.89920	0.4058	10	0.87932	D	0	-18.6841	10.9101	0.47103	0.1429:0.0:0.8571:0.0	.	693;696;695	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	696	ENSP00000396976:Q696H	ENSP00000396976:Q696H	Q	+	3	2	BAHD1	38544861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.866000	0.63005	1.439000	0.47511	0.655000	0.94253	CAG		0.547	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
CASC5	57082	broad.mit.edu	37	15	40913177	40913177	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40913177T>G	ENST00000346991.5	+	11	1183	c.793T>G	c.(793-795)Ttt>Gtt	p.F265V	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.F239V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	265	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F265V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAAAGAAAATTTTGAGATACC	0.308																																					p.F265V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T793G	15						.						38.0	37.0	37.0					15																	40913177		1827	4082	5909	38700469	SO:0001583	missense	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.793T>G	15.37:g.40913177T>G	ENSP00000335463:p.Phe265Val	Somatic		Capture	Illumina HiSeq	Phase_I	38700469	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	8.279	0.815170	0.16607	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.04809	3.56;3.55	6.04	2.15	0.27550	.	1.488060	0.03879	N	0.276808	T	0.06826	0.0174	L	0.56769	1.78	0.09310	N	1	B;B;B	0.17667	0.023;0.023;0.023	B;B;B	0.15870	0.008;0.008;0.014	T	0.41893	-0.9483	10	0.37606	T	0.19	.	2.7311	0.05227	0.2098:0.0676:0.3103:0.4123	.	239;265;239	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	265;239;239	ENSP00000335463:F265V;ENSP00000382576:F239V	ENSP00000260369:F239V	F	+	1	0	CASC5	38700469	0.796000	0.28864	0.225000	0.23894	0.505000	0.33919	0.763000	0.26517	0.471000	0.27319	0.460000	0.39030	TTT		0.308	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40913706	40913706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40913706C>A	ENST00000346991.5	+	11	1712	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S415Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	441	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S441Y(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCCCAGAATCTATATATTCT	0.358																																					p.S441Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1322A	15						.						106.0	105.0	105.0					15																	40913706		1811	4073	5884	38700998	SO:0001583	missense	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1322C>A	15.37:g.40913706C>A	ENSP00000335463:p.Ser441Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38700998	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801896	0.31869	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06528	3.29;3.3	5.7	4.79	0.61399	.	0.110499	0.41097	D	0.000944	T	0.21227	0.0511	M	0.61703	1.905	0.28256	N	0.925033	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.01920	-1.1247	10	0.66056	D	0.02	.	13.0568	0.58984	0.0:0.9255:0.0:0.0745	.	415;441;415	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Y	441;415;415	ENSP00000335463:S441Y;ENSP00000382576:S415Y	ENSP00000260369:S415Y	S	+	2	0	CASC5	38700998	0.982000	0.34865	0.918000	0.36340	0.068000	0.16541	2.623000	0.46435	1.410000	0.46936	0.460000	0.39030	TCT		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40914497	40914497	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40914497C>A	ENST00000346991.5	+	11	2503	c.2113C>A	c.(2113-2115)Ctt>Att	p.L705I	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.L679I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	705	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L705I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGGTGGAGTTCTTGATAAACA	0.343																																					p.L705I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2113A	15						.						75.0	71.0	72.0					15																	40914497		1812	4078	5890	38701789	SO:0001583	missense	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2113C>A	15.37:g.40914497C>A	ENSP00000335463:p.Leu705Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38701789	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	0.169	-1.073385	0.01918	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07567	3.18;3.18	3.88	2.96	0.34315	.	0.000000	0.32785	U	0.005650	T	0.07818	0.0196	L	0.44542	1.39	0.09310	N	1	P;P;P	0.40180	0.562;0.562;0.705	B;B;B	0.41510	0.275;0.275;0.359	T	0.25082	-1.0142	10	0.18276	T	0.48	.	7.6833	0.28526	0.0:0.6607:0.2429:0.0964	.	679;705;679	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	705;679;679	ENSP00000335463:L705I;ENSP00000382576:L679I	ENSP00000260369:L679I	L	+	1	0	CASC5	38701789	0.004000	0.15560	0.180000	0.23079	0.169000	0.22640	-0.364000	0.07583	0.851000	0.35264	-0.252000	0.11476	CTT		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40915756	40915756	+	Silent	SNP	C	C	T	rs372010989		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:40915756C>T	ENST00000346991.5	+	11	3762	c.3372C>T	c.(3370-3372)aaC>aaT	p.N1124N	CASC5_ENST00000399668.2_Silent_p.N1098N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1124	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N1124N(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAATAGATAACGAAAGTGCCC	0.383																																					p.N1124N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3372T	15						.	T	,	0,3676		0,0,1838	61.0	57.0	58.0		3294,3372	-2.3	0.0	15		58	1,8163		0,1,4081	no	coding-synonymous,coding-synonymous	CASC5	NM_144508.3,NM_170589.3	,	0,1,5919	TT,TC,CC		0.0122,0.0,0.0084	,	1098/2317,1124/2343	40915756	1,11839	1838	4082	5920	38703048	SO:0001819	synonymous_variant	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3372C>T	15.37:g.40915756C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38703048	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																				0.383	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
INO80	54617	broad.mit.edu	37	15	41361829	41361829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:41361829G>T	ENST00000361937.3	-	14	2145	c.1721C>A	c.(1720-1722)tCa>tAa	p.S574*	INO80_ENST00000401393.3_Nonsense_Mutation_p.S574*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	574	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S574*(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGACGCAGGTGAAATTATTAA	0.348																																					p.S574X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1721A	15						.						75.0	74.0	74.0					15																	41361829		2203	4300	6503	39149121	SO:0001587	stop_gained	54617	exon14			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1721C>A	15.37:g.41361829G>T	ENSP00000355205:p.Ser574*	Somatic		Capture	Illumina HiSeq	Phase_I	39149121	NM_017553	A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	41	8.771752	0.98948	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.0622	0.93097	0.0:0.0:1.0:0.0	.	.	.	.	X	574	.	ENSP00000355205:S574X	S	-	2	0	INO80	39149121	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.561000	0.86390	0.591000	0.81541	TCA		0.348	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
TTBK2	146057	broad.mit.edu	37	15	43038111	43038111	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43038111T>C	ENST00000267890.6	-	15	3725	c.3617A>G	c.(3616-3618)cAg>cGg	p.Q1206R	CTD-2036P10.3_ENST00000500850.2_lincRNA	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1206					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q1206R(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GCAATGCTCCTGTTGGCAGGA	0.597																																					p.Q1206R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3617G	15						.						116.0	125.0	122.0					15																	43038111		2044	4193	6237	40825403	SO:0001583	missense	146057	exon15			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3617A>G	15.37:g.43038111T>C	ENSP00000267890:p.Gln1206Arg	Somatic		Capture	Illumina HiSeq	Phase_I	40825403	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891306	0.72524	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39592	1.07	5.24	5.24	0.73138	.	0.202855	0.44285	D	0.000461	T	0.50939	0.1645	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.992;0.985	D;P	0.72982	0.979;0.643	T	0.55263	-0.8168	10	0.87932	D	0	.	13.8655	0.63585	0.0:0.0:0.0:1.0	.	1137;1206	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	R	1206;1136;1611	ENSP00000267890:Q1206R	ENSP00000263802:Q1611R	Q	-	2	0	TTBK2	40825403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.997000	0.63921	2.202000	0.70862	0.533000	0.62120	CAG		0.597	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
UBR1	197131	broad.mit.edu	37	15	43252851	43252851	+	Silent	SNP	G	G	A	rs376331294		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43252851G>A	ENST00000290650.4	-	43	4827	c.4749C>T	c.(4747-4749)acC>acT	p.T1583T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1583					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1583T(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCTGACCACGGTGTTTTTTT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20878	0.0		0.0	False		,,,				2504	0.0				p.T1583T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4749T	15						.	G		0,4406		0,0,2203	137.0	109.0	118.0		4749	-4.5	0.1	15		118	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	UBR1	NM_174916.2		0,3,6499	AA,AG,GG		0.0349,0.0,0.0231		1583/1750	43252851	3,13001	2203	4299	6502	41040143	SO:0001819	synonymous_variant	197131	exon43				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4749C>T	15.37:g.43252851G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41040143	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	CCDS10091.1																																																																																				0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
EPB42	2038	broad.mit.edu	37	15	43507463	43507463	+	Missense_Mutation	SNP	C	C	T	rs370209252		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43507463C>T	ENST00000441366.2	-	3	485	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	EPB42_ENST00000300215.3_Missense_Mutation_p.R117Q|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	87					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.R117Q(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCACCACTTTCGGTCCCCCAG	0.557																																					p.R87Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	15						.						149.0	120.0	130.0					15																	43507463		2203	4299	6502	41294755	SO:0001583	missense	2038	exon3			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.260G>A	15.37:g.43507463C>T	ENSP00000396616:p.Arg87Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41294755	NM_001114134	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901324	0.02453	.	.	ENSG00000166947	ENST00000300215;ENST00000441366;ENST00000397027	D;D	0.84442	-1.85;-1.85	5.29	-10.6	0.00265	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	2.651650	0.00728	N	0.000928	T	0.61148	0.2324	N	0.02539	-0.55	0.09310	N	1	B;B	0.17852	0.024;0.014	B;B	0.10450	0.004;0.005	T	0.57568	-0.7789	10	0.10377	T	0.69	5.3269	11.1477	0.48440	0.0:0.1061:0.4114:0.4824	.	117;87	P16452-2;P16452	.;EPB42_HUMAN	Q	117;87;87	ENSP00000300215:R117Q;ENSP00000396616:R87Q	ENSP00000300215:R117Q	R	-	2	0	EPB42	41294755	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.621000	0.00878	-2.463000	0.00535	-1.326000	0.01283	CGA		0.557	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
LCMT2	9836	broad.mit.edu	37	15	43621349	43621349	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43621349G>T	ENST00000305641.5	-	1	1454	c.1339C>A	c.(1339-1341)Ctc>Atc	p.L447I	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Missense_Mutation_p.L26I|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	447					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.L447I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGAAGCTGGAGAACCCCCAAG	0.483																																					p.L447I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1339A	15						.						64.0	72.0	69.0					15																	43621349		2201	4299	6500	41408641	SO:0001583	missense	9836	exon1			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1339C>A	15.37:g.43621349G>T	ENSP00000307214:p.Leu447Ile	Somatic		Capture	Illumina HiSeq	Phase_I	41408641	NM_014793	Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604523	0.03717	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.18502	2.21;2.92	5.11	2.07	0.26955	.	0.400500	0.22641	N	0.057444	T	0.14743	0.0356	L	0.60455	1.87	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.21245	-1.0251	10	0.23891	T	0.37	-26.9104	7.2715	0.26260	0.09:0.3267:0.5833:0.0	.	447	O60294	LCMT2_HUMAN	I	447;26	ENSP00000307214:L447I;ENSP00000442022:L26I	ENSP00000307214:L447I	L	-	1	0	LCMT2	41408641	0.689000	0.27690	0.333000	0.25482	0.116000	0.19942	1.234000	0.32660	0.702000	0.31825	0.655000	0.94253	CTC		0.483	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793	
TP53BP1	7158	broad.mit.edu	37	15	43701888	43701888	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43701888C>T	ENST00000263801.3	-	25	5594	c.5342G>A	c.(5341-5343)cGa>cAa	p.R1781Q	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1784Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1736Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1786Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1781	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1781Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCTCCTGCTCGAAGCTGGGA	0.363								Other conserved DNA damage response genes																													p.R1781Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5342A	15						.						50.0	47.0	48.0					15																	43701888		2201	4298	6499	41489180	SO:0001583	missense	7158	exon25			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5342G>A	15.37:g.43701888C>T	ENSP00000263801:p.Arg1781Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41489180	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.89|12.89	2.073802|2.073802	0.36566|0.36566	.|.	.|.	ENSG00000067369|ENSG00000067369	ENST00000434595|ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.|D;D;D;D	.|0.86297	.|-2.1;-2.1;-2.1;-2.1	5.43|5.43	5.43|5.43	0.79202|0.79202	.|BRCT (3);	.|0.070594	.|0.64402	.|D	.|0.000012	T|T	0.81842|0.81842	0.4908|0.4908	N|N	0.04203|0.04203	-0.255|-0.255	0.45295|0.45295	D|D	0.998291|0.998291	.|P;D;P	.|0.69078	.|0.835;0.997;0.897	.|B;P;B	.|0.61533	.|0.153;0.89;0.292	T|T	0.79087|0.79087	-0.1947|-0.1947	5|10	.|0.18710	.|T	.|0.47	-7.2492|-7.2492	11.9932|11.9932	0.53186|0.53186	0.0:0.9209:0.0:0.079|0.0:0.9209:0.0:0.079	.|.	.|1781;1786;1784	.|Q12888;Q12888-2;F8VY86	.|TP53B_HUMAN;.;.	K|Q	106|1781;1786;1736;1784	.|ENSP00000263801:R1781Q;ENSP00000371475:R1786Q;ENSP00000371470:R1736Q;ENSP00000393497:R1784Q	.|ENSP00000263801:R1781Q	E|R	-|-	1|2	0|0	TP53BP1|TP53BP1	41489180|41489180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.705000|3.705000	0.54823|0.54823	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.363	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43784503	43784503	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43784503C>T	ENST00000263801.3	-	2	408	c.156G>A	c.(154-156)acG>acA	p.T52T	TP53BP1_ENST00000450115.2_Silent_p.T57T|TP53BP1_ENST00000382039.3_Silent_p.T57T|TP53BP1_ENST00000382044.4_Silent_p.T57T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	52					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.T52T(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTCTTTGTGCGTCTGGAGAT	0.388								Other conserved DNA damage response genes																													p.T52T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G156A	15						.						124.0	128.0	127.0					15																	43784503		2201	4298	6499	41571795	SO:0001819	synonymous_variant	7158	exon2			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.156G>A	15.37:g.43784503C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41571795	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	CCDS10096.1																																																																																				0.388	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
MAP1A	4130	broad.mit.edu	37	15	43816024	43816024	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:43816024G>A	ENST00000300231.5	+	4	2803	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1023K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E785K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	785					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E785K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGCCCATTCGAAGCCAGCCA	0.557																																					p.E785K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2353A	15						.						33.0	36.0	35.0					15																	43816024		1966	4160	6126	41603316	SO:0001583	missense	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2353G>A	15.37:g.43816024G>A	ENSP00000300231:p.Glu785Lys	Somatic		Capture	Illumina HiSeq	Phase_I	41603316	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929076	0.52759	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01745	4.66;4.66;4.66	5.06	5.06	0.68205	.	0.000000	0.33075	N	0.005319	T	0.04182	0.0116	M	0.78637	2.42	0.39194	D	0.963028	P	0.52577	0.954	B	0.42422	0.387	T	0.24012	-1.0172	10	0.62326	D	0.03	-11.9497	12.9652	0.58480	0.0776:0.0:0.9224:0.0	.	785	P78559	MAP1A_HUMAN	K	1023;785;785	ENSP00000371462:E1023K;ENSP00000382380:E785K;ENSP00000300231:E785K	ENSP00000300231:E785K	E	+	1	0	MAP1A	41603316	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.450000	0.80656	2.617000	0.88574	0.563000	0.77884	GAA		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
SPG11	80208	broad.mit.edu	37	15	44887518	44887518	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:44887518C>A	ENST00000261866.7	-	26	4590	c.4574G>T	c.(4573-4575)aGa>aTa	p.R1525I	SPG11_ENST00000558319.1_Missense_Mutation_p.R1525I|SPG11_ENST00000427534.2_Missense_Mutation_p.R1525I|SPG11_ENST00000535302.2_Missense_Mutation_p.R1525I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1525					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.R1525I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAATAATGTTCTCCAGATGAC	0.418																																					p.R1525I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4574T	15						.						130.0	124.0	126.0					15																	44887518		2198	4298	6496	42674810	SO:0001583	missense	80208	exon26				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4574G>T	15.37:g.44887518C>A	ENSP00000261866:p.Arg1525Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42674810	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591176	0.66219	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.81247	-1.47;-1.47;-1.47	5.53	2.62	0.31277	.	0.268903	0.40908	D	0.000985	D	0.85423	0.5693	M	0.67953	2.075	0.43603	D	0.995969	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.69824	0.942;0.966;0.916	T	0.82849	-0.0254	10	0.59425	D	0.04	.	7.3351	0.26605	0.0:0.5968:0.0:0.4031	.	1525;1525;1525	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	I	1525	ENSP00000261866:R1525I;ENSP00000445278:R1525I;ENSP00000396110:R1525I	ENSP00000261866:R1525I	R	-	2	0	SPG11	42674810	1.000000	0.71417	0.921000	0.36526	0.983000	0.72400	1.901000	0.39838	0.293000	0.22520	0.655000	0.94253	AGA		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPG11	80208	broad.mit.edu	37	15	44892782	44892782	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:44892782T>G	ENST00000261866.7	-	21	3585	c.3569A>C	c.(3568-3570)aAa>aCa	p.K1190T	SPG11_ENST00000558319.1_Missense_Mutation_p.K1190T|SPG11_ENST00000427534.2_Missense_Mutation_p.K1190T|SPG11_ENST00000535302.2_Missense_Mutation_p.K1190T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1190					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.K1190T(1)|p.K1190R(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TATAGCATATTTATTAACCAG	0.358																																					p.K1190T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3569C	15						.						116.0	127.0	123.0					15																	44892782		2198	4298	6496	42680074	SO:0001583	missense	80208	exon21				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3569A>C	15.37:g.44892782T>G	ENSP00000261866:p.Lys1190Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42680074	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115000	0.77210	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;D;D	0.81908	-1.55;-1.55;-1.55	5.82	4.71	0.59529	.	0.056824	0.64402	D	0.000002	D	0.87450	0.6180	M	0.73598	2.24	0.80722	D	1	D;P;D	0.54601	0.967;0.947;0.967	P;P;P	0.55508	0.777;0.645;0.777	D	0.87310	0.2311	10	0.56958	D	0.05	.	11.3203	0.49417	0.0:0.0713:0.0:0.9287	.	1190;1190;1190	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	T	1190	ENSP00000261866:K1190T;ENSP00000445278:K1190T;ENSP00000396110:K1190T	ENSP00000261866:K1190T	K	-	2	0	SPG11	42680074	1.000000	0.71417	0.982000	0.44146	0.942000	0.58702	3.256000	0.51492	1.037000	0.40024	0.528000	0.53228	AAA		0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPG11	80208	broad.mit.edu	37	15	44925803	44925803	+	Silent	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:44925803T>G	ENST00000261866.7	-	8	1651	c.1635A>C	c.(1633-1635)gtA>gtC	p.V545V	SPG11_ENST00000558319.1_Silent_p.V545V|SPG11_ENST00000427534.2_Silent_p.V545V|SPG11_ENST00000559193.1_Silent_p.V545V|SPG11_ENST00000535302.2_Silent_p.V545V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	545					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.V545V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAAAGAAATTTACTGTGTCCA	0.313																																					p.V545V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1635C	15						.						55.0	58.0	57.0					15																	44925803		2198	4298	6496	42713095	SO:0001819	synonymous_variant	80208	exon8				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1635A>C	15.37:g.44925803T>G		Somatic		Capture	Illumina HiSeq	Phase_I	42713095	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.313	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
DUOXA2	405753	broad.mit.edu	37	15	45408042	45408042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:45408042G>A	ENST00000323030.5	+	2	478	c.193G>A	c.(193-195)Gca>Aca	p.A65T	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	65					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A65T(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTTCATAGGCGCAGAAATTGT	0.592																																					p.A65T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	15						.						178.0	170.0	172.0					15																	45408042		2053	4184	6237	43195334	SO:0001583	missense	405753	exon2			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.193G>A	15.37:g.45408042G>A	ENSP00000319705:p.Ala65Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43195334	NM_207581	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288403	0.80803	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.60797	0.16	5.58	3.69	0.42338	.	0.160633	0.53938	D	0.000042	T	0.51719	0.1691	M	0.75447	2.3	0.09310	N	1	P	0.43662	0.814	B	0.32149	0.141	T	0.56649	-0.7944	10	0.72032	D	0.01	-2.6826	11.978	0.53103	0.143:0.0:0.857:0.0	.	65	Q1HG44	DOXA2_HUMAN	T	65	ENSP00000319705:A65T	ENSP00000319705:A65T	A	+	1	0	DUOXA2	43195334	0.536000	0.26378	0.307000	0.25127	0.953000	0.61014	3.475000	0.53136	1.368000	0.46115	-0.221000	0.12465	GCA		0.592	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
SEMA6D	80031	broad.mit.edu	37	15	48063573	48063573	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:48063573G>T	ENST00000316364.5	+	19	3252	c.2813G>T	c.(2812-2814)aGa>aTa	p.R938I	SEMA6D_ENST00000536845.2_Missense_Mutation_p.R938I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R876I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R876I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R895I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R863I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R876I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R919I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R882I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	938					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R938I(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACTCTCCCCAGAAATAGCCCA	0.517																																					p.R863I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2588T	15						.						117.0	117.0	117.0					15																	48063573		2198	4297	6495	45850865	SO:0001583	missense	80031	exon17			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2813G>T	15.37:g.48063573G>T	ENSP00000324857:p.Arg938Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45850865	NM_153616	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759391	0.69763	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.22743	1.94;2.03;2.03;2.03;1.94;1.94;1.94;1.95	5.8	4.87	0.63330	.	0.105761	0.64402	D	0.000002	T	0.44117	0.1278	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.961;0.999	T	0.42916	-0.9423	10	0.87932	D	0	.	16.0136	0.80420	0.0:0.0:0.8646:0.1354	.	863;882;938;876	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	I	876;938;938;919;895;882;876;863	ENSP00000442040:R876I;ENSP00000446152:R938I;ENSP00000324857:R938I;ENSP00000374084:R919I;ENSP00000374083:R895I;ENSP00000346786:R882I;ENSP00000350770:R876I;ENSP00000374079:R863I	ENSP00000324857:R938I	R	+	2	0	SEMA6D	45850865	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	1.405000	0.46838	0.563000	0.77884	AGA		0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
SLC12A1	6557	broad.mit.edu	37	15	48522600	48522600	+	Missense_Mutation	SNP	C	C	T	rs201820156		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:48522600C>T	ENST00000558405.1	+	6	889	c.875C>T	c.(874-876)tCg>tTg	p.S292L	SLC12A1_ENST00000330289.6_Missense_Mutation_p.S292L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.S292L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.S292L|SLC12A1_ENST00000559723.1_3'UTR			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	292					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.S292L(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAGAGTGATTCGATGATGGTG	0.403																																					p.S292L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C875T	15						.	C	LEU/SER,LEU/SER	0,4396		0,0,2198	75.0	62.0	66.0		875,875	5.7	1.0	15		66	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense	SLC12A1	NM_000338.2,NM_001184832.1	145,145	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	292/1100,292/1100	48522600	2,12988	2198	4297	6495	46309892	SO:0001583	missense	6557	exon7				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.875C>T	15.37:g.48522600C>T	ENSP00000453409:p.Ser292Leu	Somatic		Capture	Illumina HiSeq	Phase_I	46309892	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443730	0.12164	0.0	2.33E-4	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98602	-5.02;-5.02;-5.02	5.66	5.66	0.87406	Amino acid permease domain (1);	0.338906	0.30185	N	0.010219	D	0.94052	0.8094	N	0.04805	-0.155	0.34487	D	0.704511	P;B;B	0.34629	0.46;0.011;0.007	B;B;B	0.32805	0.153;0.011;0.004	D	0.94353	0.7581	10	0.24483	T	0.36	.	19.7502	0.96265	0.0:1.0:0.0:0.0	.	292;292;292	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	L	105;292;292;292	ENSP00000370381:S292L;ENSP00000379822:S292L;ENSP00000331550:S292L	ENSP00000331550:S292L	S	+	2	0	SLC12A1	46309892	0.999000	0.42202	1.000000	0.80357	0.665000	0.39181	5.359000	0.66074	2.654000	0.90174	0.650000	0.86243	TCG		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48561935	48561935	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:48561935G>T	ENST00000558405.1	+	18	2390	c.2376G>T	c.(2374-2376)gaG>gaT	p.E792D	SLC12A1_ENST00000380993.3_Missense_Mutation_p.E792D|SLC12A1_ENST00000396577.3_Missense_Mutation_p.E792D			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	792					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.E792D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCTTGACAGAGATTGAGAACT	0.408																																					p.E792D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2376T	15	GRCh37	CD077435	SLC12A1	D		.						104.0	96.0	98.0					15																	48561935		2198	4297	6495	46349227	SO:0001583	missense	6557	exon19				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2376G>T	15.37:g.48561935G>T	ENSP00000453409:p.Glu792Asp	Somatic		Capture	Illumina HiSeq	Phase_I	46349227	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408757	0.11812	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.91686	-2.89;-2.89	4.97	4.97	0.65823	.	0.464766	0.23870	N	0.043759	T	0.76579	0.4007	N	0.04132	-0.27	0.36392	D	0.862576	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.71182	-0.4668	10	0.07813	T	0.8	.	4.9154	0.13844	0.1234:0.0:0.6665:0.2101	.	792;792	E9PDW4;Q13621	.;S12A1_HUMAN	D	792	ENSP00000370381:E792D;ENSP00000379822:E792D	ENSP00000370381:E792D	E	+	3	2	SLC12A1	46349227	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.392000	0.34486	2.737000	0.93849	0.563000	0.77884	GAG		0.408	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
CEP152	22995	broad.mit.edu	37	15	49031003	49031003	+	Missense_Mutation	SNP	C	C	T	rs577236018		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:49031003C>T	ENST00000380950.2	-	27	4763	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	CEP152_ENST00000399334.3_Missense_Mutation_p.D1470N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1526					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.D1470N(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)		TCATTAGAATCGCGAAAGGTT	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		22496	0.0		0.0	False		,,,				2504	0.001				p.D1526N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4576A	15						.						80.0	77.0	78.0					15																	49031003		1844	4100	5944	46818295	SO:0001583	missense	22995	exon27			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.4576G>A	15.37:g.49031003C>T	ENSP00000370337:p.Asp1526Asn	Somatic		Capture	Illumina HiSeq	Phase_I	46818295	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633674	0.29068	.	.	ENSG00000103995	ENST00000399334	T	0.52057	0.68	5.08	-3.37	0.04898	.	1.456340	0.04265	N	0.341086	T	0.22085	0.0532	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.31806	-0.9930	10	0.02654	T	1	-0.1562	8.3708	0.32415	0.1209:0.2205:0.0:0.6587	.	1470	O94986	CE152_HUMAN	N	1470	ENSP00000382271:D1470N	ENSP00000382271:D1470N	D	-	1	0	CEP152	46818295	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.352000	0.07701	-0.910000	0.03847	0.557000	0.71058	GAT		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49048485	49048485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:49048485C>T	ENST00000380950.2	-	20	3147	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q	CEP152_ENST00000325747.5_Missense_Mutation_p.R894Q|CEP152_ENST00000399334.3_Missense_Mutation_p.R987Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	987					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.R987Q(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)		AATTTTATTTCGGTGATCATC	0.368																																					p.R987Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2960A	15						.						168.0	157.0	161.0					15																	49048485		1826	4082	5908	46835777	SO:0001583	missense	22995	exon20			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.2960G>A	15.37:g.49048485C>T	ENSP00000370337:p.Arg987Gln	Somatic		Capture	Illumina HiSeq	Phase_I	46835777	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506088	0.85282	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.26;0.33;0.33	5.39	5.39	0.77823	.	0.075597	0.53938	D	0.000048	T	0.74038	0.3664	M	0.74881	2.28	0.38032	D	0.935185	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.99;0.975;0.966	T	0.75918	-0.3148	10	0.41790	T	0.15	-13.4333	13.7832	0.63094	0.0:0.926:0.0:0.074	.	894;987;987	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Q	987;894;987	ENSP00000370337:R987Q;ENSP00000321000:R894Q;ENSP00000382271:R987Q	ENSP00000321000:R894Q	R	-	2	0	CEP152	46835777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.019000	0.57181	2.675000	0.91044	0.591000	0.81541	CGA		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
FAM227B	196951	broad.mit.edu	37	15	49663591	49663591	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:49663591C>T	ENST00000299338.6	-	12	1321	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	340								p.D340N(2)									ATATTGAAGTCGATACCTAAA	0.333																																					p.D340N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1018A	15						.						92.0	97.0	95.0					15																	49663591		2196	4289	6485	47450883	SO:0001583	missense	196951	exon12				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.1018G>A	15.37:g.49663591C>T	ENSP00000299338:p.Asp340Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47450883	NM_152647	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784774	0.31593	.	.	ENSG00000166262	ENST00000299338	.	.	.	4.19	2.16	0.27623	.	0.254958	0.28042	N	0.016833	T	0.45955	0.1368	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.57548	0.823	T	0.35251	-0.9796	9	0.16420	T	0.52	-17.2512	10.2254	0.43222	0.0:0.6048:0.3952:0.0	.	340	Q96M60	CO033_HUMAN	N	340	.	ENSP00000299338:D340N	D	-	1	0	C15orf33	47450883	0.937000	0.31787	0.011000	0.14972	0.528000	0.34623	0.542000	0.23222	0.636000	0.30508	0.650000	0.86243	GAC		0.333	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
DTWD1	56986	broad.mit.edu	37	15	49926882	49926882	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:49926882C>A	ENST00000251250.6	+	5	765	c.558C>A	c.(556-558)ttC>ttA	p.F186L	DTWD1_ENST00000403028.3_Missense_Mutation_p.F186L|DTWD1_ENST00000415425.1_Missense_Mutation_p.F99L|DTWD1_ENST00000558653.1_Missense_Mutation_p.F186L|DTWD1_ENST00000559223.1_3'UTR	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	186								p.F186L(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AACAAGAGTTCTGTGATTTGA	0.343																																					p.F186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C558A	15						.						61.0	68.0	66.0					15																	49926882		2196	4295	6491	47714174	SO:0001583	missense	56986	exon4			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.558C>A	15.37:g.49926882C>A	ENSP00000251250:p.Phe186Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47714174	NM_001144955	Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	C	0.660	-0.805904	0.02819	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.21031	2.03;2.03	3.73	1.75	0.24633	DTW (1);	1.610720	0.03075	N	0.157715	T	0.09774	0.0240	N	0.02539	-0.55	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.25847	-1.0120	9	.	.	.	6.2616	8.3776	0.32453	0.0:0.7773:0.0:0.2227	.	99;186	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	L	186;186;99	ENSP00000385399:F186L;ENSP00000251250:F186L	.	F	+	3	2	DTWD1	47714174	0.000000	0.05858	0.205000	0.23548	0.042000	0.13812	-0.197000	0.09518	0.660000	0.30964	0.655000	0.94253	TTC		0.343	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	
ATP8B4	79895	broad.mit.edu	37	15	50226323	50226323	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:50226323G>T	ENST00000284509.6	-	15	1485	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F448L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	448						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F448L(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGTGGTCAAAGAACTGAAATT	0.398																																					p.F448L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1344A	15						.						113.0	112.0	112.0					15																	50226323		2196	4295	6491	48013615	SO:0001583	missense	79895	exon15			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1344C>A	15.37:g.50226323G>T	ENSP00000284509:p.Phe448Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48013615	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667059	0.29604	.	.	ENSG00000104043	ENST00000284509	T	0.66638	-0.22	5.81	0.455	0.16649	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.160853	0.53938	N	0.000044	T	0.72811	0.3507	M	0.69358	2.11	0.33396	D	0.576736	D	0.59767	0.986	D	0.68765	0.96	T	0.73620	-0.3925	10	0.54805	T	0.06	.	4.8928	0.13735	0.3148:0.267:0.4183:0.0	.	448	Q8TF62	AT8B4_HUMAN	L	448	ENSP00000284509:F448L	ENSP00000284509:F448L	F	-	3	2	ATP8B4	48013615	0.954000	0.32549	0.929000	0.37066	0.242000	0.25591	0.382000	0.20635	-0.146000	0.11274	-0.189000	0.12847	TTC		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
TRPM7	54822	broad.mit.edu	37	15	50884435	50884435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:50884435C>A	ENST00000313478.7	-	26	4278	c.3997G>T	c.(3997-3999)Gac>Tac	p.D1333Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.D1333Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1333					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D1333Y(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GCAGGTAAGTCTTGACCAAAT	0.403																																					p.D1333Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3997T	15						.						59.0	55.0	57.0					15																	50884435		1803	4072	5875	48671727	SO:0001583	missense	54822	exon26			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3997G>T	15.37:g.50884435C>A	ENSP00000320239:p.Asp1333Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	48671727	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492338	0.26774	.	.	ENSG00000092439	ENST00000313478	T	0.55588	0.51	5.62	5.62	0.85841	.	1.472650	0.03312	N	0.190666	T	0.46073	0.1374	N	0.14661	0.345	0.39348	D	0.965697	P	0.44090	0.826	B	0.37833	0.259	T	0.52305	-0.8593	10	0.72032	D	0.01	-9.4488	18.7048	0.91633	0.0:1.0:0.0:0.0	.	1333	Q96QT4	TRPM7_HUMAN	Y	1333	ENSP00000320239:D1333Y	ENSP00000320239:D1333Y	D	-	1	0	TRPM7	48671727	1.000000	0.71417	0.989000	0.46669	0.111000	0.19643	4.602000	0.61098	2.647000	0.89833	0.644000	0.83932	GAC		0.403	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
GLDN	342035	broad.mit.edu	37	15	51696718	51696718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:51696718G>A	ENST00000335449.6	+	10	1479	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	GLDN_ENST00000396399.2_Missense_Mutation_p.A351T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	475	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A475T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGCTGGCAACGCCTTCATTGC	0.473																																					p.A475T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1423A	15						.						173.0	151.0	159.0					15																	51696718		2196	4293	6489	49484010	SO:0001583	missense	342035	exon10			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1423G>A	15.37:g.51696718G>A	ENSP00000335196:p.Ala475Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49484010	NM_181789	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	32	5.157675	0.94686	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91843	-2.92;-2.92	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.96131	0.8739	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95923	0.8932	10	0.72032	D	0.01	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	475	Q6ZMI3	GLDN_HUMAN	T	475;351;351	ENSP00000335196:A475T;ENSP00000379681:A351T	ENSP00000335196:A475T	A	+	1	0	GLDN	49484010	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	GCC		0.473	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789	
DMXL2	23312	broad.mit.edu	37	15	51860691	51860691	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:51860691C>A	ENST00000251076.5	-	3	565	c.278G>T	c.(277-279)aGa>aTa	p.R93I	DMXL2_ENST00000543779.2_Missense_Mutation_p.R93I|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Missense_Mutation_p.R93I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	93						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R93I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACACAATTTCTTTTATGAGA	0.289																																					p.R93I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278T	15						.						28.0	28.0	28.0					15																	51860691		2188	4267	6455	49647983	SO:0001583	missense	23312	exon3			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.278G>T	15.37:g.51860691C>A	ENSP00000251076:p.Arg93Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49647983	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519547	0.44866	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.10960	2.82;2.82;2.82	5.11	5.11	0.69529	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.45581	1.43	0.32496	N	0.539582	P;P;D	0.71674	0.955;0.718;0.998	P;B;D	0.79784	0.738;0.178;0.993	T	0.04664	-1.0935	10	0.36615	T	0.2	.	18.8904	0.92399	0.0:1.0:0.0:0.0	.	93;93;93	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	I	93	ENSP00000251076:R93I;ENSP00000441858:R93I;ENSP00000400855:R93I	ENSP00000251076:R93I	R	-	2	0	DMXL2	49647983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.263000	0.51546	2.542000	0.85734	0.650000	0.86243	AGA		0.289	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
MAPK6	5597	broad.mit.edu	37	15	52338757	52338757	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:52338757G>T	ENST00000261845.5	+	2	907	c.100G>T	c.(100-102)Gtt>Ttt	p.V34F		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	34	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.V34F(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CAATGGCTTGGTTTTTTCTGC	0.398																																					p.V34F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100T	15						.						124.0	126.0	125.0					15																	52338757		2195	4293	6488	50126049	SO:0001583	missense	5597	exon2			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.100G>T	15.37:g.52338757G>T	ENSP00000261845:p.Val34Phe	Somatic		Capture	Illumina HiSeq	Phase_I	50126049	NM_002748	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309765	0.60414	.	.	ENSG00000069956	ENST00000261845	T	0.71698	-0.59	5.38	5.38	0.77491	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	D	0.91199	0.7227	H	0.98996	4.395	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.94653	0.7841	10	0.87932	D	0	-24.1553	19.2084	0.93744	0.0:0.0:1.0:0.0	.	34	Q16659	MK06_HUMAN	F	34	ENSP00000261845:V34F	ENSP00000261845:V34F	V	+	1	0	MAPK6	50126049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.556000	0.86216	0.650000	0.86243	GTT		0.398	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748	
MYO5A	4644	broad.mit.edu	37	15	52688564	52688564	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:52688564T>C	ENST00000399231.3	-	11	1593	c.1350A>G	c.(1348-1350)gaA>gaG	p.E450E	MYO5A_ENST00000358212.6_Silent_p.E450E|MYO5A_ENST00000399233.2_Silent_p.E450E|MYO5A_ENST00000356338.6_Silent_p.E450E|MYO5A_ENST00000553916.1_Silent_p.E450E	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	450	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.E450E(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCAAAACTGTTCAAAACTAT	0.254																																					p.E450E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1350G	15						.						53.0	49.0	51.0					15																	52688564		1768	4042	5810	50475856	SO:0001819	synonymous_variant	4644	exon11				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1350A>G	15.37:g.52688564T>C		Somatic		Capture	Illumina HiSeq	Phase_I	50475856	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.254	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
ARPP19	10776	broad.mit.edu	37	15	52849390	52849390	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:52849390C>T	ENST00000566423.1	-	3	208	c.75G>A	c.(73-75)gaG>gaA	p.E25E	ARPP19_ENST00000563277.1_Silent_p.E9E|ARPP19_ENST00000568196.1_Silent_p.E9E|ARPP19_ENST00000569281.2_Silent_p.E25E|ARPP19_ENST00000567669.1_Silent_p.E25E|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000249822.4_Silent_p.E25E|ARPP19_ENST00000563566.1_Silent_p.E9E|ARPP19_ENST00000561971.1_Silent_p.E44E|ARPP19_ENST00000565288.1_5'Flank|ARPP19_ENST00000564163.1_Silent_p.E44E|ARPP19_ENST00000561650.1_Silent_p.E9E			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	25					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)	p.E25E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CTTCTGCTTTCTCTGGACTAG	0.323																																					p.E25E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	15						.						90.0	88.0	89.0					15																	52849390		2194	4293	6487	50636682	SO:0001819	synonymous_variant	10776	exon2			AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"""endosulfine alpha-like"""	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.75G>A	15.37:g.52849390C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50636682	NM_006628	B2R497|Q6IAM2|Q86TA6|Q9UD70	Silent	SNP	ENST00000566423.1	37	CCDS32242.1																																																																																				0.323	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419834.1	NM_006628	
FAM214A	56204	broad.mit.edu	37	15	52901158	52901158	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:52901158A>C	ENST00000261844.7	-	6	2105	c.1953T>G	c.(1951-1953)atT>atG	p.I651M	FAM214A_ENST00000546305.2_Missense_Mutation_p.I658M	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	651								p.I651M(1)									TATTTGTACAAATCTGTTTGT	0.284																																					p.I651M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1953G	15						.						75.0	73.0	73.0					15																	52901158		1789	4058	5847	50688450	SO:0001583	missense	56204	exon6			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1953T>G	15.37:g.52901158A>C	ENSP00000261844:p.Ile651Met	Somatic		Capture	Illumina HiSeq	Phase_I	50688450	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463013	0.26248	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.38887	1.11;1.11	6.17	-3.04	0.05412	.	0.593268	0.17634	N	0.167274	T	0.33030	0.0849	L	0.48642	1.525	0.35387	D	0.790403	P;P	0.43633	0.813;0.716	P;B	0.46975	0.533;0.333	T	0.41822	-0.9487	10	0.62326	D	0.03	.	2.2579	0.04060	0.5217:0.1919:0.1825:0.1039	.	658;651	F5H8G0;Q32MH5	.;K1370_HUMAN	M	651;651;650;658	ENSP00000261844:I651M;ENSP00000443598:I658M	ENSP00000261844:I651M	I	-	3	3	KIAA1370	50688450	1.000000	0.71417	0.010000	0.14722	0.228000	0.25075	1.429000	0.34903	-0.277000	0.09193	0.533000	0.62120	ATT		0.284	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
FAM214A	56204	broad.mit.edu	37	15	52901775	52901775	+	Nonsense_Mutation	SNP	G	G	A	rs200373322		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:52901775G>A	ENST00000261844.7	-	6	1488	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R453*	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	446								p.R446*(1)									GGTTTTAGTCGAATTTTCCCC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		20247	0.001		0.0	False		,,,				2504	0.0				p.R446X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1336T	15						.						81.0	72.0	75.0					15																	52901775		1812	4067	5879	50689067	SO:0001587	stop_gained	56204	exon6			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1336C>T	15.37:g.52901775G>A	ENSP00000261844:p.Arg446*	Somatic		Capture	Illumina HiSeq	Phase_I	50689067	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	37	6.117321	0.97296	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	5.63	2.06	0.26882	.	1.382920	0.04423	N	0.367893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.391	0.38372	0.0:0.108:0.518:0.374	.	.	.	.	X	446;446;445;453	.	ENSP00000261844:R446X	R	-	1	2	KIAA1370	50689067	0.002000	0.14202	0.002000	0.10522	0.943000	0.58893	1.253000	0.32886	0.746000	0.32786	0.655000	0.94253	CGA		0.388	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
ONECUT1	3175	broad.mit.edu	37	15	53081137	53081137	+	Silent	SNP	G	G	A	rs539201961		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:53081137G>A	ENST00000305901.5	-	1	1072	c.945C>T	c.(943-945)ttC>ttT	p.F315F	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	315					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F315F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCCTCTGCGCGAAGATGGCCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18784	0.0		0.0	False		,,,				2504	0.001				p.F315F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	15						.						134.0	119.0	124.0					15																	53081137		2194	4293	6487	50868429	SO:0001819	synonymous_variant	3175	exon1			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.945C>T	15.37:g.53081137G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50868429	NM_004498	B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	CCDS10150.1																																																																																				0.597	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2		
WDR72	256764	broad.mit.edu	37	15	53907944	53907944	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:53907944T>G	ENST00000396328.1	-	15	2698	c.2459A>C	c.(2458-2460)aAt>aCt	p.N820T	WDR72_ENST00000360509.5_Missense_Mutation_p.N820T|WDR72_ENST00000559418.1_Missense_Mutation_p.N830T|WDR72_ENST00000557913.1_Missense_Mutation_p.N817T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	820								p.N820T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTTAAAATATTGAGGTGCTT	0.373																																					p.N820T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2459C	15						.						95.0	98.0	97.0					15																	53907944		2193	4293	6486	51695236	SO:0001583	missense	256764	exon15			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2459A>C	15.37:g.53907944T>G	ENSP00000379619:p.Asn820Thr	Somatic		Capture	Illumina HiSeq	Phase_I	51695236	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657770	0.47467	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35789	1.29;1.29	5.72	4.61	0.57282	.	0.211018	0.43260	D	0.000598	T	0.30916	0.0780	L	0.54323	1.7	0.25771	N	0.984835	P	0.35077	0.483	B	0.28139	0.086	T	0.28902	-1.0029	10	0.72032	D	0.01	.	10.1896	0.43019	0.0:0.0789:0.0:0.9211	.	820	Q3MJ13	WDR72_HUMAN	T	820	ENSP00000379619:N820T;ENSP00000353699:N820T	ENSP00000353699:N820T	N	-	2	0	WDR72	51695236	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.575000	0.36493	1.012000	0.39366	0.533000	0.62120	AAT		0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	53998203	53998203	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:53998203G>T	ENST00000396328.1	-	10	1262	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	WDR72_ENST00000360509.5_Missense_Mutation_p.F341L|WDR72_ENST00000559418.1_Missense_Mutation_p.F351L|WDR72_ENST00000557913.1_Missense_Mutation_p.F338L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	341								p.F341L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCTCCAGAGAAAAGTACCT	0.398																																					p.F341L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1023A	15						.						105.0	106.0	105.0					15																	53998203		2194	4293	6487	51785495	SO:0001583	missense	256764	exon10			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1023C>A	15.37:g.53998203G>T	ENSP00000379619:p.Phe341Leu	Somatic		Capture	Illumina HiSeq	Phase_I	51785495	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915532	0.33815	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.38077	1.16;1.16	5.66	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.065619	0.64402	D	0.000004	T	0.39091	0.1065	M	0.68317	2.08	0.35272	D	0.780569	D	0.56521	0.976	P	0.49922	0.626	T	0.50030	-0.8875	10	0.12103	T	0.63	.	7.3385	0.26623	0.2578:0.0:0.7422:0.0	.	341	Q3MJ13	WDR72_HUMAN	L	341	ENSP00000379619:F341L;ENSP00000353699:F341L	ENSP00000353699:F341L	F	-	3	2	WDR72	51785495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.925000	0.48884	1.383000	0.46405	0.655000	0.94253	TTC		0.398	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
CCPG1	9236	broad.mit.edu	37	15	55651772	55651772	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:55651772G>T	ENST00000310958.6	-	8	2497	c.2199C>A	c.(2197-2199)ttC>ttA	p.F733L	CCPG1_ENST00000425574.3_Missense_Mutation_p.F350L|CCPG1_ENST00000569205.1_Missense_Mutation_p.F733L|CCPG1_ENST00000442196.3_Missense_Mutation_p.F733L|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	733					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.F733L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGTGACCAAAGAAGTGTCTAT	0.323																																					p.F733L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2199A	15						.						63.0	63.0	63.0					15																	55651772		1816	4059	5875	53439064	SO:0001583	missense	9236	exon8			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2199C>A	15.37:g.55651772G>T	ENSP00000311656:p.Phe733Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53439064	NM_004748	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054323	0.75960	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.35048	3.59;3.59;1.33	4.99	4.99	0.66335	.	0.213736	0.49305	D	0.000147	T	0.40815	0.1132	L	0.50333	1.59	0.48762	D	0.999709	D;P;D;P	0.55605	0.972;0.705;0.972;0.89	P;B;P;B	0.45639	0.488;0.269;0.488;0.337	T	0.43686	-0.9376	10	0.72032	D	0.01	.	17.2829	0.87133	0.0:0.0:1.0:0.0	.	733;350;733;589	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	L	733;733;350	ENSP00000311656:F733L;ENSP00000403400:F733L;ENSP00000415128:F350L	ENSP00000311656:F733L	F	-	3	2	DYX1C1	53439064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.336000	0.79503	0.650000	0.86243	TTC		0.323	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
PYGO1	26108	broad.mit.edu	37	15	55838824	55838824	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:55838824A>T	ENST00000302000.6	-	3	751	c.657T>A	c.(655-657)aaT>aaA	p.N219K	PYGO1_ENST00000563719.1_Missense_Mutation_p.N219K	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	219	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N219K(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TAAAAGAATGATTAGATTCTA	0.368																																					p.N219K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T657A	15						.						68.0	74.0	72.0					15																	55838824		2191	4292	6483	53626116	SO:0001583	missense	26108	exon3			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.657T>A	15.37:g.55838824A>T	ENSP00000302327:p.Asn219Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53626116	NM_015617	A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787873	0.31593	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.50813	0.73	4.99	3.86	0.44501	.	0.075309	0.53938	D	0.000041	T	0.19685	0.0473	N	0.08118	0	0.32856	D	0.507308	P;P	0.37781	0.608;0.608	B;B	0.27500	0.08;0.08	T	0.21861	-1.0233	10	0.27082	T	0.32	-13.9828	6.2761	0.20981	0.721:0.0:0.279:0.0	.	219;219	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	K	219	ENSP00000302327:N219K	ENSP00000302327:N219K	N	-	3	2	PYGO1	53626116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.407000	0.44565	0.859000	0.35456	0.477000	0.44152	AAT		0.368	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617	
PYGO1	26108	broad.mit.edu	37	15	55838980	55838980	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:55838980C>A	ENST00000302000.6	-	3	595	c.501G>T	c.(499-501)caG>caT	p.Q167H	PYGO1_ENST00000563719.1_Missense_Mutation_p.Q167H	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	167	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q167H(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGTTGACATTCTGACTTAGTG	0.383																																					p.Q167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G501T	15						.						116.0	117.0	117.0					15																	55838980		2193	4292	6485	53626272	SO:0001583	missense	26108	exon3			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.501G>T	15.37:g.55838980C>A	ENSP00000302327:p.Gln167His	Somatic		Capture	Illumina HiSeq	Phase_I	53626272	NM_015617	A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977154	0.18812	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.52295	0.67	5.23	2.32	0.28847	.	0.000000	0.64402	D	0.000003	T	0.49525	0.1562	L	0.32530	0.975	0.36261	D	0.854544	D;D	0.65815	0.995;0.995	P;P	0.60886	0.88;0.88	T	0.56938	-0.7896	10	0.52906	T	0.07	-4.9316	9.4026	0.38442	0.0:0.7014:0.0:0.2986	.	167;167	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	H	167	ENSP00000302327:Q167H	ENSP00000302327:Q167H	Q	-	3	2	PYGO1	53626272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.774000	0.26675	0.714000	0.32081	-0.237000	0.12165	CAG		0.383	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617	
NEDD4	4734	broad.mit.edu	37	15	56216855	56216855	+	Missense_Mutation	SNP	C	C	T	rs547250575		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:56216855C>T	ENST00000435532.3	-	5	470	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_006154.2	NP_006145.2	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1189	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.E94K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AATCGGTTTTCGTCAAACACT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19972	0.0		0.0	False		,,,				2504	0.001				p.E94K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280A	15						.						56.0	54.0	55.0					15																	56216855		1854	4085	5939	54004147	SO:0001583	missense	4734	exon5			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000435532.3:c.280G>A	15.37:g.56216855C>T	ENSP00000410613:p.Glu94Lys	Somatic		Capture	Illumina HiSeq	Phase_I	54004147	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000435532.3	37	CCDS45265.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899823	0.91962	.	.	ENSG00000069869	ENST00000435532	T	0.69306	-0.39	5.56	5.56	0.83823	.	.	.	.	.	D	0.82917	0.5141	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.84932	0.0860	8	0.87932	D	0	.	18.5333	0.91000	0.0:1.0:0.0:0.0	.	94	P46934-4	.	K	94	ENSP00000410613:E94K	ENSP00000410613:E94K	E	-	1	0	NEDD4	54004147	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.636000	0.74299	2.629000	0.89072	0.655000	0.94253	GAA		0.393	NEDD4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359821.2	NM_198400	
TEX9	374618	broad.mit.edu	37	15	56686926	56686926	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:56686926G>A	ENST00000352903.2	+	9	746	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	TEX9_ENST00000537232.1_Missense_Mutation_p.R166Q|TEX9_ENST00000561221.2_Missense_Mutation_p.R241Q|TEX9_ENST00000560582.1_5'UTR|TEX9_ENST00000558083.2_Missense_Mutation_p.R166Q|RP11-48G14.2_ENST00000564401.1_lincRNA	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	241								p.R241Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		AGACAGCAGCGAACAATTAAT	0.289																																					p.R241Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	15						.						40.0	43.0	42.0					15																	56686926		2192	4279	6471	54474218	SO:0001583	missense	374618	exon9			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.722G>A	15.37:g.56686926G>A	ENSP00000342169:p.Arg241Gln	Somatic		Capture	Illumina HiSeq	Phase_I	54474218	NM_198524	B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432948	0.62844	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	D;D	0.81579	-1.51;-1.51	5.25	4.33	0.51752	.	0.172194	0.49305	D	0.000157	T	0.80808	0.4694	L	0.50333	1.59	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.52672	0.706;0.562	T	0.78879	-0.2030	10	0.33940	T	0.23	-12.3603	12.0017	0.53235	0.0847:0.0:0.9153:0.0	.	166;241	B4DH73;Q8N6V9	.;TEX9_HUMAN	Q	241;166	ENSP00000342169:R241Q;ENSP00000438745:R166Q	ENSP00000342169:R241Q	R	+	2	0	TEX9	54474218	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.771000	0.55318	2.453000	0.82957	0.591000	0.81541	CGA		0.289	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524	
TEX9	374618	broad.mit.edu	37	15	56704616	56704616	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:56704616A>G	ENST00000352903.2	+	10	969	c.945A>G	c.(943-945)aaA>aaG	p.K315K	TEX9_ENST00000537232.1_Silent_p.K240K|TEX9_ENST00000560582.1_Silent_p.K71K|RP11-48G14.1_ENST00000561934.1_lincRNA	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	315								p.K315K(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		AGTTAAGTAAATTAAGGCAAA	0.338																																					p.K315K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A945G	15						.						68.0	74.0	72.0					15																	56704616		2193	4292	6485	54491908	SO:0001819	synonymous_variant	374618	exon10			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.945A>G	15.37:g.56704616A>G		Somatic		Capture	Illumina HiSeq	Phase_I	54491908	NM_198524	B4DH73	Silent	SNP	ENST00000352903.2	37	CCDS10157.1																																																																																				0.338	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524	
MNS1	55329	broad.mit.edu	37	15	56756291	56756291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:56756291C>T	ENST00000260453.3	-	2	322	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	53					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.R53H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AAATTGCTTGCGCTGAACACG	0.323																																					p.R53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	15						.						151.0	152.0	151.0					15																	56756291		2190	4292	6482	54543583	SO:0001583	missense	55329	exon2			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.158G>A	15.37:g.56756291C>T	ENSP00000260453:p.Arg53His	Somatic		Capture	Illumina HiSeq	Phase_I	54543583	NM_018365	Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730226	0.30684	.	.	ENSG00000138587	ENST00000260453	T	0.15834	2.39	5.42	-2.17	0.07059	.	0.602094	0.18580	N	0.137073	T	0.10165	0.0249	N	0.20986	0.625	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.17776	-1.0358	10	0.45353	T	0.12	10.1121	11.058	0.47931	0.0:0.3822:0.0:0.6178	.	53	Q8NEH6	MNS1_HUMAN	H	53	ENSP00000260453:R53H	ENSP00000260453:R53H	R	-	2	0	MNS1	54543583	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.294000	0.02767	-0.647000	0.05444	-0.218000	0.12543	CGC		0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
ZNF280D	54816	broad.mit.edu	37	15	56958663	56958663	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:56958663T>C	ENST00000267807.7	-	16	2140	c.1924A>G	c.(1924-1926)Acg>Gcg	p.T642A	ZNF280D_ENST00000559237.1_Missense_Mutation_p.T629A|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T629A|ZNF280D_ENST00000396245.1_Missense_Mutation_p.T346A	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	642					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.T642A(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGGACGTACGTAGGAAAGTGG	0.353																																					p.T642A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1924G	15						.						105.0	100.0	102.0					15																	56958663		2192	4292	6484	54745955	SO:0001583	missense	54816	exon16			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1924A>G	15.37:g.56958663T>C	ENSP00000267807:p.Thr642Ala	Somatic		Capture	Illumina HiSeq	Phase_I	54745955	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	6.362	0.434820	0.12045	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03358	3.96;4.43	4.96	3.83	0.44106	.	0.508870	0.14513	U	0.314982	T	0.04092	0.0114	L	0.43152	1.355	0.26335	N	0.977453	B;B	0.11235	0.004;0.003	B;B	0.13407	0.003;0.009	T	0.38908	-0.9639	10	0.27785	T	0.31	-5.3292	7.7278	0.28769	0.0:0.1854:0.0:0.8146	.	705;642	B4DHL1;Q6N043	.;Z280D_HUMAN	A	642;629;346	ENSP00000267807:T642A;ENSP00000379545:T346A	ENSP00000267807:T642A	T	-	1	0	ZNF280D	54745955	1.000000	0.71417	0.995000	0.50966	0.861000	0.49209	1.205000	0.32308	0.840000	0.34995	0.383000	0.25322	ACG		0.353	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
TCF12	6938	broad.mit.edu	37	15	57524560	57524560	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:57524560C>A	ENST00000267811.5	+	10	1061	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	TCF12_ENST00000343827.3_Missense_Mutation_p.L83M|TCF12_ENST00000452095.2_Missense_Mutation_p.L249M|TCF12_ENST00000333725.5_Missense_Mutation_p.L253M|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000438423.2_Missense_Mutation_p.L253M|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000543579.1_Missense_Mutation_p.L83M|TCF12_ENST00000557843.1_Missense_Mutation_p.L253M	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	253					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.L249M(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGGTGGAATTCTGGGGACCTC	0.438			T	TEC	extraskeletal myxoid chondrosarcoma																																p.L253M			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C757A	15						.						161.0	151.0	154.0					15																	57524560		2192	4292	6484	55311852	SO:0001583	missense	6938	exon10			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.757C>A	15.37:g.57524560C>A	ENSP00000267811:p.Leu253Met	Somatic		Capture	Illumina HiSeq	Phase_I	55311852	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557753	0.86231	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000343827	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	6.02	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.62088	1.915	0.58432	D	0.999996	D;P;D;D;D;D	0.89917	0.998;0.954;1.0;0.999;0.998;0.999	D;P;D;D;D;D	0.91635	0.99;0.839;0.999;0.997;0.994;0.997	T	0.65047	-0.6263	10	0.33141	T	0.24	-38.8396	12.183	0.54221	0.0:0.8637:0.0:0.1363	.	249;305;83;83;253;253	E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;HTF4_HUMAN;.	M	305;253;253;249;253;83;83	ENSP00000267811:L253M;ENSP00000388940:L253M;ENSP00000396881:L249M;ENSP00000331057:L253M;ENSP00000440017:L83M;ENSP00000342459:L83M	ENSP00000267811:L253M	L	+	1	2	TCF12	55311852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.044000	0.71012	1.554000	0.49487	0.650000	0.86243	CTG		0.438	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
LIPC	3990	broad.mit.edu	37	15	58830636	58830636	+	Nonsense_Mutation	SNP	C	C	T	rs369262181		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:58830636C>T	ENST00000356113.6	+	4	808	c.193C>T	c.(193-195)Cga>Tga	p.R65*	LIPC_ENST00000433326.2_Nonsense_Mutation_p.R65*|LIPC_ENST00000414170.3_Nonsense_Mutation_p.R65*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R65*			P11150	LIPC_HUMAN	lipase, hepatic	65					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.R65*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTGTCAGATTCGAATCAATCA	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19074	0.0		0.0	False		,,,				2504	0.0				p.R65X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C193T	15						.	C	stop/ARG	1,4383	2.1+/-5.4	0,1,2191	197.0	185.0	189.0		193	2.0	0.0	15		189	0,8584		0,0,4292	no	stop-gained	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0,0.0228,0.0077		65/500	58830636	1,12967	2192	4292	6484	56617928	SO:0001587	stop_gained	3990	exon2				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.193C>T	15.37:g.58830636C>T	ENSP00000348425:p.Arg65*	Somatic		Capture	Illumina HiSeq	Phase_I	56617928	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Nonsense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665692	0.67700	2.28E-4	0.0	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	.	.	.	5.08	2.02	0.26589	.	1.063170	0.07265	N	0.868025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	3.7187	0.08448	0.1388:0.5763:0.1274:0.1575	.	.	.	.	X	65	.	ENSP00000299022:R65X	R	+	1	2	LIPC	56617928	0.001000	0.12720	0.029000	0.17559	0.105000	0.19272	0.650000	0.24858	0.253000	0.21552	0.514000	0.50259	CGA		0.488	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
SLTM	79811	broad.mit.edu	37	15	59172205	59172205	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:59172205C>T	ENST00000380516.2	-	21	3185	c.3098G>A	c.(3097-3099)cGa>cAa	p.R1033Q	SLTM_ENST00000536328.1_Missense_Mutation_p.R602Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	1033					apoptotic process (GO:0006915)|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.R1033Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCAGAATCGTCGCGGAGG	0.413																																					p.R1033Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3098A	15						.						58.0	62.0	61.0					15																	59172205		2192	4292	6484	56959497	SO:0001583	missense	79811	exon21			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.3098G>A	15.37:g.59172205C>T	ENSP00000369887:p.Arg1033Gln	Somatic		Capture	Illumina HiSeq	Phase_I	56959497	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563646	0.65651	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.13657	2.57	5.66	5.66	0.87406	.	0.000000	0.46442	D	0.000282	T	0.09555	0.0235	N	0.19112	0.55	0.38963	D	0.958587	P;P	0.44429	0.835;0.772	B;B	0.28991	0.097;0.089	T	0.10870	-1.0611	10	0.87932	D	0	.	19.7554	0.96287	0.0:1.0:0.0:0.0	.	1033;602	Q9NWH9;A8K5V8	SLTM_HUMAN;.	Q	1033;599;602	ENSP00000369887:R1033Q	ENSP00000369887:R1033Q	R	-	2	0	SLTM	56959497	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.652000	0.61454	2.665000	0.90641	0.563000	0.77884	CGA		0.413	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
ANXA2	302	broad.mit.edu	37	15	60649423	60649423	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:60649423C>T	ENST00000396024.3	-	7	529	c.370G>A	c.(370-372)Gac>Aac	p.D124N	ANXA2_ENST00000451270.2_Missense_Mutation_p.D124N|ANXA2_ENST00000421017.2_Missense_Mutation_p.D124N|ANXA2_ENST00000332680.4_Missense_Mutation_p.D142N	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	124					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.D142N(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	GAGTCCTCGTCGGTTCCCAGC	0.478																																					p.D142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	15						.						89.0	79.0	83.0					15																	60649423		2203	4300	6503	58436715	SO:0001583	missense	302	exon6			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.370G>A	15.37:g.60649423C>T	ENSP00000379342:p.Asp124Asn	Somatic		Capture	Illumina HiSeq	Phase_I	58436715	NM_001002858	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567796	0.96540	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.67	5.67	0.87782	Annexin repeat, conserved site (1);	0.000000	0.85682	U	0.000000	T	0.18551	0.0445	M	0.64630	1.985	0.80722	D	1	P;D;D	0.71674	0.934;0.98;0.998	P;P;D	0.64410	0.809;0.493;0.925	T	0.00064	-1.2151	10	0.40728	T	0.16	.	18.5406	0.91025	0.0:1.0:0.0:0.0	.	124;142;124	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	N	124;142;124;124;7	ENSP00000379342:D124N;ENSP00000346032:D142N;ENSP00000411352:D124N;ENSP00000387545:D124N	ENSP00000346032:D142N	D	-	1	0	ANXA2	58436715	1.000000	0.71417	0.138000	0.22173	0.433000	0.31745	7.171000	0.77595	2.689000	0.91719	0.462000	0.41574	GAC		0.478	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857	
TLN2	83660	broad.mit.edu	37	15	63040640	63040640	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:63040640C>T	ENST00000561311.1	+	32	4346	c.4116C>T	c.(4114-4116)ctC>ctT	p.L1372L	TLN2_ENST00000306829.6_Silent_p.L1372L			Q9Y4G6	TLN2_HUMAN	talin 2	1372					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1372L(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCGGGAGCTCGAGGTAGGTC	0.532																																					p.L1372L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4116T	15						.						84.0	81.0	82.0					15																	63040640		2203	4300	6503	60827932	SO:0001819	synonymous_variant	83660	exon30			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4116C>T	15.37:g.63040640C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60827932	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
APH1B	83464	broad.mit.edu	37	15	63597947	63597947	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:63597947G>T	ENST00000261879.5	+	6	811	c.741G>T	c.(739-741)aaG>aaT	p.K247N	APH1B_ENST00000380343.4_Missense_Mutation_p.K206N|APH1B_ENST00000560716.1_3'UTR	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	247					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)	p.K247N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						GCCAAGACAAGAACTTTCTTC	0.512																																					p.K247N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G741T	15						.						61.0	62.0	62.0					15																	63597947		2203	4300	6503	61385000	SO:0001583	missense	83464	exon6			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.741G>T	15.37:g.63597947G>T	ENSP00000261879:p.Lys247Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61385000	NM_031301	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347475	0.61183	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.50548	0.74;0.78	5.33	5.33	0.75918	.	0.111260	0.64402	D	0.000016	T	0.54663	0.1872	L	0.51422	1.61	0.46336	D	0.998994	D;D	0.59767	0.986;0.986	P;P	0.53954	0.738;0.738	T	0.53143	-0.8480	10	0.42905	T	0.14	-3.2474	14.547	0.68038	0.0:0.0:1.0:0.0	.	206;247	Q564N3;Q8WW43	.;APH1B_HUMAN	N	206;247	ENSP00000369700:K206N;ENSP00000261879:K247N	ENSP00000261879:K247N	K	+	3	2	APH1B	61385000	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.619000	0.46401	2.495000	0.84180	0.650000	0.86243	AAG		0.512	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301	
HERC1	8925	broad.mit.edu	37	15	63961826	63961826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:63961826G>T	ENST00000443617.2	-	40	8204	c.8117C>A	c.(8116-8118)tCg>tAg	p.S2706*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2706					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S2706*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTTGGTAACGAAGATATTGG	0.468																																					p.S2706X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C8117A	15						.						152.0	158.0	156.0					15																	63961826		1958	4155	6113	61748879	SO:0001587	stop_gained	8925	exon40			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8117C>A	15.37:g.63961826G>T	ENSP00000390158:p.Ser2706*	Somatic		Capture	Illumina HiSeq	Phase_I	61748879	NM_003922	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	49	15.672473	0.99841	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5944	0.95530	0.0:0.0:1.0:0.0	.	.	.	.	X	2706	.	ENSP00000390158:S2706X	S	-	2	0	HERC1	61748879	1.000000	0.71417	0.641000	0.29422	0.614000	0.37383	9.229000	0.95273	2.627000	0.88993	0.563000	0.77884	TCG		0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	63991067	63991067	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:63991067G>T	ENST00000443617.2	-	26	4852	c.4765C>A	c.(4765-4767)Cac>Aac	p.H1589N	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1589					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H1589N(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCAAAGTGTGAACTCCCAAA	0.453																																					p.H1589N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4765A	15						.						96.0	91.0	93.0					15																	63991067		1860	4103	5963	61778120	SO:0001583	missense	8925	exon26			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4765C>A	15.37:g.63991067G>T	ENSP00000390158:p.His1589Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61778120	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096473	0.56075	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.25749	1.78	5.45	5.45	0.79879	.	0.000000	0.85682	U	0.000000	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	D;P	0.61080	0.989;0.851	D;P	0.70487	0.969;0.838	T	0.23976	-1.0173	10	0.54805	T	0.06	.	19.2871	0.94082	0.0:0.0:1.0:0.0	.	573;1589	B4DKS2;Q15751	.;HERC1_HUMAN	N	1589;573	ENSP00000390158:H1589N	ENSP00000389613:H573N	H	-	1	0	HERC1	61778120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.302000	0.96175	2.550000	0.86006	0.591000	0.81541	CAC		0.453	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	64067336	64067336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:64067336G>A	ENST00000443617.2	-	2	574	c.487C>T	c.(487-489)Cga>Tga	p.R163*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	163					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R163*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGACCAGTTCGAACACCCATT	0.473																																					p.R163X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C487T	15						.						194.0	195.0	195.0					15																	64067336		1958	4143	6101	61854389	SO:0001587	stop_gained	8925	exon2			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.487C>T	15.37:g.64067336G>A	ENSP00000390158:p.Arg163*	Somatic		Capture	Illumina HiSeq	Phase_I	61854389	NM_003922	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485027	0.63962	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	.	.	.	5.64	4.67	0.58626	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2626	0.60113	0.0:0.0:0.7223:0.2777	.	.	.	.	X	163	.	ENSP00000389613:R163X	R	-	1	2	HERC1	61854389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.733000	0.55029	2.659000	0.90383	0.655000	0.94253	CGA		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
ANKDD1A	348094	broad.mit.edu	37	15	65242156	65242156	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:65242156C>T	ENST00000380230.3	+	14	1475	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	ANKDD1A_ENST00000357698.3_Silent_p.F450F|ANKDD1A_ENST00000395723.1_Silent_p.F359F|ANKDD1A_ENST00000395720.1_Silent_p.F482F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	482	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)			p.F482F(2)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AAGCGCTGTTCGAGGGCCTCG	0.632																																					p.F482F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1446T	15						.						85.0	84.0	84.0					15																	65242156		2202	4299	6501	63029209	SO:0001819	synonymous_variant	348094	exon14				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1446C>T	15.37:g.65242156C>T		Somatic		Capture	Illumina HiSeq	Phase_I	63029209	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	CCDS10197.2																																																																																				0.632	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
DPP8	54878	broad.mit.edu	37	15	65793092	65793092	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:65793092G>T	ENST00000341861.5	-	4	2026	c.446C>A	c.(445-447)tCt>tAt	p.S149Y	DPP8_ENST00000300141.6_Missense_Mutation_p.S133Y|DPP8_ENST00000339244.5_Missense_Mutation_p.S149Y|DPP8_ENST00000321118.7_Missense_Mutation_p.S149Y|DPP8_ENST00000559233.1_Missense_Mutation_p.S149Y|DPP8_ENST00000358939.4_Missense_Mutation_p.S133Y|Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000321147.6_Missense_Mutation_p.S149Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	149					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.S133Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTCTCGAGAATACATTCC	0.383																																					p.S133Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398A	15						.						168.0	167.0	168.0					15																	65793092		2201	4299	6500	63580145	SO:0001583	missense	54878	exon4			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.446C>A	15.37:g.65793092G>T	ENSP00000339208:p.Ser149Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	63580145	NM_017743	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672579	0.88348	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.62122	0.2402	M	0.68952	2.095	0.28756	N	0.90118	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.997;0.993	T	0.58544	-0.7618	10	0.87932	D	0	-22.715	20.2885	0.98538	0.0:0.0:1.0:0.0	.	133;133;149;149	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	Y	149;133;133;149;149;149;149	ENSP00000339208:S149Y;ENSP00000351817:S133Y;ENSP00000300141:S133Y;ENSP00000318111:S149Y;ENSP00000316373:S149Y;ENSP00000341230:S149Y;ENSP00000379013:S149Y	ENSP00000300141:S133Y	S	-	2	0	DPP8	63580145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.896000	0.87350	2.791000	0.96007	0.650000	0.86243	TCT		0.383	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
PTPLAD1	51495	broad.mit.edu	37	15	65868652	65868652	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:65868652A>C	ENST00000261875.5	+	11	1190	c.1024A>C	c.(1024-1026)Aat>Cat	p.N342H	PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.N225H|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.N225H|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.N225H|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.N225H|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.N380H|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.N317H|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.N287H	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	342					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)	p.N342H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTATACATAAATTTTCGTCA	0.368																																					p.N342H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1024C	15						.						54.0	47.0	49.0					15																	65868652		1798	4064	5862	63655705	SO:0001583	missense	51495	exon11				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1024A>C	15.37:g.65868652A>C	ENSP00000261875:p.Asn342His	Somatic		Capture	Illumina HiSeq	Phase_I	63655705	NM_016395	A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	ENST00000261875.5	37	CCDS45282.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482422	0.84747	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.29397	1.57;1.57	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.52601	-0.8554	10	0.72032	D	0.01	-19.6627	15.7738	0.78193	1.0:0.0:0.0:0.0	.	287;342	B4DRF4;Q9P035	.;HACD3_HUMAN	H	287;342	ENSP00000392491:N287H;ENSP00000261875:N342H	ENSP00000261875:N342H	N	+	1	0	PTPLAD1	63655705	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.234000	0.89801	2.367000	0.80283	0.528000	0.53228	AAT		0.368	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395	
SLC24A1	9187	broad.mit.edu	37	15	65936767	65936767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:65936767C>T	ENST00000261892.6	+	5	2343	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	SLC24A1_ENST00000339868.6_Missense_Mutation_p.R668C|SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000399033.4_Missense_Mutation_p.R686C|SLC24A1_ENST00000537259.1_Missense_Mutation_p.R668C|SLC24A1_ENST00000546330.1_Missense_Mutation_p.R668C|SLC24A1_ENST00000449142.2_3'UTR	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	686					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R686C(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATTTGCAGTTCGCCTTGCCAA	0.547																																					p.S686L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2057T	15						.						74.0	82.0	79.0					15																	65936767		2043	4198	6241	63723821	SO:0001583	missense	9187	exon5			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2056C>T	15.37:g.65936767C>T	ENSP00000261892:p.Arg686Cys	Somatic		Capture	Illumina HiSeq	Phase_I	63723821	NM_004727	O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	7.008	0.556159	0.13436	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000399033;ENST00000546330	T;T;T;T;T	0.68331	-0.07;-0.31;-0.29;-0.32;-0.29	3.82	-0.758	0.11049	.	.	.	.	.	T	0.57770	0.2076	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B;B	0.18461	0.0;0.001;0.0;0.0;0.028;0.017	B;B;B;B;B;B	0.15870	0.0;0.0;0.0;0.0;0.014;0.006	T	0.52290	-0.8595	9	0.59425	D	0.04	.	3.2745	0.06893	0.2865:0.4778:0.1408:0.0949	.	13;668;686;686;668;668	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	C	668;686;668;686;668	ENSP00000439693:R668C;ENSP00000261892:R686C;ENSP00000341837:R668C;ENSP00000381991:R686C;ENSP00000439190:R668C	ENSP00000261892:R686C	R	+	1	0	SLC24A1	63723821	0.006000	0.16342	0.000000	0.03702	0.012000	0.07955	0.120000	0.15647	-0.359000	0.08150	-1.134000	0.01955	CGC		0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
MEGF11	84465	broad.mit.edu	37	15	66262971	66262971	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:66262971C>A	ENST00000409699.2	-	8	991	c.819G>T	c.(817-819)caG>caT	p.Q273H	MEGF11_ENST00000360698.4_Missense_Mutation_p.Q273H|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q273H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q198H|MEGF11_ENST00000288745.3_Missense_Mutation_p.Q198H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	273	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q198H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						AAGGACAATCCTGGCTGCAGT	0.552																																					p.Q273H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G819T	15						.						123.0	86.0	98.0					15																	66262971		2201	4299	6500	64050025	SO:0001583	missense	84465	exon8			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.819G>T	15.37:g.66262971C>A	ENSP00000386908:p.Gln273His	Somatic		Capture	Illumina HiSeq	Phase_I	64050025	NM_032445	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463986	0.43736	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	4.73	0.356	0.16074	Epidermal growth factor-like, type 3 (1);	0.000000	0.38381	U	0.001701	T	0.81380	0.4810	M	0.75264	2.295	0.34974	D	0.753436	B;B	0.11235	0.0;0.004	B;B	0.15052	0.003;0.012	T	0.77194	-0.2677	10	0.72032	D	0.01	.	6.9786	0.24690	0.0:0.5811:0.2644:0.1545	.	273;198	A6BM72;A6BM72-2	MEG11_HUMAN;.	H	273;198;273;198;273	ENSP00000386908:Q273H;ENSP00000288745:Q198H;ENSP00000414475:Q273H;ENSP00000378987:Q198H;ENSP00000353919:Q273H	ENSP00000288745:Q198H	Q	-	3	2	MEGF11	64050025	0.996000	0.38824	0.995000	0.50966	0.986000	0.74619	0.770000	0.26618	0.162000	0.19483	0.462000	0.41574	CAG		0.552	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	
LCTL	197021	broad.mit.edu	37	15	66845563	66845563	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:66845563G>A	ENST00000341509.5	-	9	1087	c.956C>T	c.(955-957)tCg>tTg	p.S319L	LCTL_ENST00000537670.1_Missense_Mutation_p.S146L	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	319					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S319L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTAACCTCGACATCTCCAG	0.423																																					p.S319L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956T	15						.						165.0	163.0	164.0					15																	66845563		2201	4299	6500	64632617	SO:0001583	missense	197021	exon9			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.956C>T	15.37:g.66845563G>A	ENSP00000343490:p.Ser319Leu	Somatic		Capture	Illumina HiSeq	Phase_I	64632617	NM_207338	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769484	0.90020	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.55413	0.52;1.38	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75961	-0.3133	10	0.87932	D	0	-11.0755	18.9093	0.92475	0.0:0.0:1.0:0.0	.	146;319	B3KQY0;Q6UWM7	.;LCTL_HUMAN	L	146;319	ENSP00000445419:S146L;ENSP00000343490:S319L	ENSP00000343490:S319L	S	-	2	0	LCTL	64632617	1.000000	0.71417	0.094000	0.20943	0.691000	0.40173	7.073000	0.76784	2.785000	0.95823	0.655000	0.94253	TCG		0.423	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338	
MAP2K5	5607	broad.mit.edu	37	15	67835755	67835755	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:67835755G>A	ENST00000178640.5	+	1	709	c.82G>A	c.(82-84)Gcg>Acg	p.A28T	MAP2K5_ENST00000560591.1_3'UTR|RP11-502I4.3_ENST00000604760.1_lincRNA|MAP2K5_ENST00000395476.2_Missense_Mutation_p.A28T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	28	OPR.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A28T(2)|p.S26_A28>R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						AAATAGTGGCGCGGTGGACTG	0.567																																					p.A28T												.	.	4	Substitution - Missense(2)|Complex - deletion inframe(2)	large_intestine(2)|breast(2)	c.G82A	15						.						123.0	106.0	111.0					15																	67835755		2201	4298	6499	65622809	SO:0001583	missense	5607	exon1			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.82G>A	15.37:g.67835755G>A	ENSP00000178640:p.Ala28Thr	Somatic		Capture	Illumina HiSeq	Phase_I	65622809	NM_145160	B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076103	0.76415	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640	T;T	0.22743	1.94;1.94	4.95	4.95	0.65309	Phox/Bem1p (2);	0.054752	0.64402	D	0.000001	T	0.15955	0.0384	N	0.19112	0.55	0.80722	D	1	P;P;P	0.38110	0.564;0.618;0.618	B;B;B	0.34346	0.113;0.18;0.18	T	0.05886	-1.0858	10	0.62326	D	0.03	-11.2021	17.7867	0.88540	0.0:0.0:1.0:0.0	.	28;28;28	Q13163-2;Q13163;B2RD76	.;MP2K5_HUMAN;.	T	28	ENSP00000378859:A28T;ENSP00000178640:A28T	ENSP00000178640:A28T	A	+	1	0	MAP2K5	65622809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.403000	0.73264	2.283000	0.76528	0.655000	0.94253	GCG		0.567	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162	
PIAS1	8554	broad.mit.edu	37	15	68468922	68468922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:68468922G>T	ENST00000249636.6	+	11	1559	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	PIAS1_ENST00000545237.1_Nonsense_Mutation_p.E473*|PIAS1_ENST00000567417.1_3'UTR	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	471	SUMO1-binding. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E471*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ATCTGATGAAGAGGAAGAAGA	0.418																																					p.E471X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1411T	15						.						116.0	113.0	114.0					15																	68468922		1934	4133	6067	66255976	SO:0001587	stop_gained	8554	exon11			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1411G>T	15.37:g.68468922G>T	ENSP00000249636:p.Glu471*	Somatic		Capture	Illumina HiSeq	Phase_I	66255976	NM_016166	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Nonsense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	47	13.279500	0.99732	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	.	.	.	5.93	5.93	0.95920	.	0.093485	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.724	20.3507	0.98813	0.0:0.0:1.0:0.0	.	.	.	.	X	471;473	.	ENSP00000249636:E471X	E	+	1	0	PIAS1	66255976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.096000	0.94182	2.808000	0.96608	0.655000	0.94253	GAG		0.418	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		
ITGA11	22801	broad.mit.edu	37	15	68643696	68643696	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:68643696A>C	ENST00000315757.7	-	8	880	c.794T>G	c.(793-795)gTg>gGg	p.V265G	ITGA11_ENST00000423218.2_Missense_Mutation_p.V265G|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	265	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.V265G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GACAATCATCACCTTCTTGGC	0.552																																					p.V265G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T794G	15						.						125.0	130.0	128.0					15																	68643696		2046	4203	6249	66430750	SO:0001583	missense	22801	exon8			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.794T>G	15.37:g.68643696A>C	ENSP00000327290:p.Val265Gly	Somatic		Capture	Illumina HiSeq	Phase_I	66430750	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707753	0.89018	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	D;D	0.86865	-2.18;-2.18	5.4	5.4	0.78164	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95912	0.8924	10	0.87932	D	0	.	14.5912	0.68365	1.0:0.0:0.0:0.0	.	265;265	A8K8T0;Q9UKX5	.;ITA11_HUMAN	G	265	ENSP00000327290:V265G;ENSP00000403392:V265G	ENSP00000327290:V265G	V	-	2	0	ITGA11	66430750	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.051000	0.93849	2.048000	0.60808	0.459000	0.35465	GTG		0.552	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
SPESP1	246777	broad.mit.edu	37	15	69238790	69238790	+	Missense_Mutation	SNP	C	C	T	rs554895221	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:69238790C>T	ENST00000310673.3	+	2	1071	c.917C>T	c.(916-918)tCt>tTt	p.S306F	NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	306					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.S306F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGTGTAATTCTAGATCTAAA	0.294																																					p.S306F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917T	15						.						53.0	58.0	56.0					15																	69238790		2196	4295	6491	67025844	SO:0001583	missense	246777	exon2			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.917C>T	15.37:g.69238790C>T	ENSP00000312284:p.Ser306Phe	Somatic		Capture	Illumina HiSeq	Phase_I	67025844	NM_145658	Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817922	0.50633	.	.	ENSG00000258484	ENST00000310673	T	0.28666	1.6	5.33	3.32	0.38043	.	0.540328	0.15885	N	0.239858	T	0.37571	0.1008	L	0.34521	1.04	0.09310	N	0.999998	D	0.71674	0.998	D	0.70935	0.971	T	0.09292	-1.0681	10	0.87932	D	0	-6.126	5.5464	0.17065	0.1984:0.7027:0.0:0.0989	.	306	Q6UW49	SPESP_HUMAN	F	306	ENSP00000312284:S306F	ENSP00000312284:S306F	S	+	2	0	SPESP1	67025844	0.374000	0.25081	0.024000	0.17045	0.842000	0.47809	0.998000	0.29744	2.651000	0.90000	0.655000	0.94253	TCT		0.294	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658	
LRRC49	54839	broad.mit.edu	37	15	71188216	71188216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:71188216C>T	ENST00000260382.5	+	3	394	c.134C>T	c.(133-135)tCg>tTg	p.S45L	LRRC49_ENST00000544974.2_Missense_Mutation_p.S35L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.S50L|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S45L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAAGACACATCGTCATTCCCC	0.323																																					p.S45L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C134T	15						.						88.0	84.0	85.0					15																	71188216		2199	4297	6496	68975270	SO:0001583	missense	54839	exon3				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.134C>T	15.37:g.71188216C>T	ENSP00000260382:p.Ser45Leu	Somatic		Capture	Illumina HiSeq	Phase_I	68975270	NM_017691	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279405	0.40294	.	.	ENSG00000137821	ENST00000544974;ENST00000260382	T;T	0.35236	1.34;1.32	5.37	5.37	0.77165	.	0.529047	0.16973	N	0.192014	T	0.22166	0.0534	N	0.14661	0.345	0.80722	D	1	B;B;B	0.32781	0.384;0.147;0.165	B;B;B	0.18871	0.015;0.015;0.023	T	0.07366	-1.0776	10	0.29301	T	0.29	-0.1114	16.9709	0.86298	0.0:1.0:0.0:0.0	.	50;45;35	B7Z366;Q8IUZ0;F5H1J4	.;LRC49_HUMAN;.	L	35;45	ENSP00000439600:S35L;ENSP00000260382:S45L	ENSP00000260382:S45L	S	+	2	0	LRRC49	68975270	0.598000	0.26882	0.219000	0.23793	0.399000	0.30720	3.323000	0.52014	2.667000	0.90743	0.563000	0.77884	TCG		0.323	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	
THSD4	79875	broad.mit.edu	37	15	72037557	72037557	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:72037557C>A	ENST00000355327.3	+	12	2153	c.2019C>A	c.(2017-2019)atC>atA	p.I673I	THSD4_ENST00000357769.4_Silent_p.I313I|THSD4_ENST00000261862.6_Silent_p.I673I|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	673					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.I673I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTGCAACATCTTCCCTTGCC	0.527																																					p.I673I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2019A	15						.						145.0	149.0	147.0					15																	72037557		1960	4144	6104	69824611	SO:0001819	synonymous_variant	79875	exon11			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2019C>A	15.37:g.72037557C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69824611	NM_024817	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817	
MYO9A	4649	broad.mit.edu	37	15	72143639	72143639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:72143639C>T	ENST00000356056.5	-	37	7008	c.6536G>A	c.(6535-6537)cGa>cAa	p.R2179Q	MYO9A_ENST00000444904.1_Missense_Mutation_p.R2160Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2179Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2250Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2179	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R2179Q(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGATGAGTTCGGGAGAGTTG	0.393																																					p.R2179Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6536A	15						.						131.0	118.0	122.0					15																	72143639		2199	4297	6496	69930693	SO:0001583	missense	4649	exon37			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6536G>A	15.37:g.72143639C>T	ENSP00000348349:p.Arg2179Gln	Somatic		Capture	Illumina HiSeq	Phase_I	69930693	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289932	0.95546	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.18810	2.19;2.19;2.19	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.29749	0.0743	N	0.05487	-0.04	0.58432	D	0.999998	D;D	0.89917	0.995;1.0	P;D	0.83275	0.824;0.996	T	0.35400	-0.9790	9	0.45353	T	0.12	.	19.7455	0.96251	0.0:1.0:0.0:0.0	.	2179;1943	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	Q	2179;2250;2160	ENSP00000348349:R2179Q;ENSP00000399162:R2250Q;ENSP00000398250:R2160Q	ENSP00000348349:R2179Q	R	-	2	0	MYO9A	69930693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.004000	0.70709	2.670000	0.90874	0.650000	0.86243	CGA		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72190038	72190038	+	Silent	SNP	G	G	A	rs370462797		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:72190038G>A	ENST00000356056.5	-	25	5278	c.4806C>T	c.(4804-4806)acC>acT	p.T1602T	MYO9A_ENST00000444904.1_Silent_p.T1583T|MYO9A_ENST00000564571.1_Silent_p.T1602T|MYO9A_ENST00000424560.1_Silent_p.T1602T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.T1222T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1602	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.T1602T(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAAGAACACGGTGACAGGTC	0.458																																					p.T1602T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4806T	15						.	G		0,4398		0,0,2199	96.0	89.0	91.0		4806	-4.6	0.0	15		91	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MYO9A	NM_006901.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		1602/2549	72190038	1,12991	2199	4297	6496	69977092	SO:0001819	synonymous_variant	4649	exon25			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4806C>T	15.37:g.72190038G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69977092	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
REC114	283677	broad.mit.edu	37	15	73735533	73735533	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:73735533G>A	ENST00000331090.6	+	1	35	c.7G>A	c.(7-9)Gag>Aag	p.E3K	C15orf60_ENST00000560581.1_Missense_Mutation_p.E3K	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		3					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.E3K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GGACATGGCGGAGGCAGGAAA	0.647																																					p.E3K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7A	15						.						13.0	19.0	17.0					15																	73735533		2114	4219	6333	71522586	SO:0001583	missense	283677	exon1																														ENST00000331090.6:c.7G>A	15.37:g.73735533G>A	ENSP00000328423:p.Glu3Lys	Somatic		Capture	Illumina HiSeq	Phase_I	71522586	NM_001042367		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861652	0.51482	.	.	ENSG00000183324	ENST00000331090	T	0.48201	0.82	3.45	2.51	0.30379	.	0.687008	0.13647	N	0.372590	T	0.60907	0.2305	L	0.60455	1.87	0.23287	N	0.997973	D	0.67145	0.996	D	0.75484	0.986	T	0.45862	-0.9232	10	0.59425	D	0.04	-4.9198	8.7332	0.34512	0.0:0.2332:0.7668:0.0	.	3	Q7Z4M0	CO060_HUMAN	K	3	ENSP00000328423:E3K	ENSP00000328423:E3K	E	+	1	0	C15orf60	71522586	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	2.220000	0.42908	0.995000	0.38917	0.561000	0.74099	GAG		0.647	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		
ISLR	3671	broad.mit.edu	37	15	74467746	74467746	+	Missense_Mutation	SNP	G	G	A	rs376998994		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:74467746G>A	ENST00000249842.3	+	2	904	c.547G>A	c.(547-549)Gac>Aac	p.D183N	ISLR_ENST00000395118.1_Missense_Mutation_p.D183N|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	183	LRRCT.		D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.D183N(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GAACCCCTTCGACTGCACCTG	0.632																																					p.D183N												ISLR,large_intestine,colon,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(2)	c.G547A	15						.	G	ASN/ASP,ASN/ASP	0,4396		0,0,2198	54.0	47.0	50.0		547,547	1.7	1.0	15		50	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ISLR	NM_005545.3,NM_201526.1	23,23	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	183/429,183/429	74467746	1,12989	2198	4297	6495	72254799	SO:0001583	missense	3671	exon2			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.547G>A	15.37:g.74467746G>A	ENSP00000249842:p.Asp183Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72254799	NM_201526		Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	9.109	1.006046	0.19199	0.0	1.16E-4	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.52526	0.66;0.66	4.05	1.71	0.24356	Cysteine-rich flanking region, C-terminal (1);	0.225673	0.28612	U	0.014722	T	0.18718	0.0449	N	0.10618	0.005	0.25561	N	0.986992	B	0.10296	0.003	B	0.01281	0.0	T	0.16541	-1.0399	10	0.08381	T	0.77	.	3.7237	0.08466	0.2199:0.5234:0.2567:0.0	.	183	O14498	ISLR_HUMAN	N	183	ENSP00000249842:D183N;ENSP00000378550:D183N	ENSP00000249842:D183N	D	+	1	0	ISLR	72254799	0.000000	0.05858	0.997000	0.53966	0.587000	0.36485	0.632000	0.24583	0.670000	0.31165	0.313000	0.20887	GAC		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
STRA6	64220	broad.mit.edu	37	15	74494604	74494604	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:74494604G>A	ENST00000323940.5	-	2	250	c.5C>T	c.(4-6)tCg>tTg	p.S2L	STRA6_ENST00000449139.2_Missense_Mutation_p.S2L|RP11-60L3.1_ENST00000558645.1_RNA|STRA6_ENST00000563965.1_Missense_Mutation_p.S41L|RP11-60L3.1_ENST00000561332.1_RNA|STRA6_ENST00000432245.2_Missense_Mutation_p.S2L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Missense_Mutation_p.S39L|RP11-60L3.1_ENST00000560148.1_RNA|STRA6_ENST00000395105.4_Missense_Mutation_p.S2L|STRA6_ENST00000574278.1_Missense_Mutation_p.S17L|STRA6_ENST00000416286.3_Missense_Mutation_p.S2L|STRA6_ENST00000423167.2_Missense_Mutation_p.S2L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	2					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.S2L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TGGCTGGGACGACATTCTCTG	0.537																																					p.S17L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C50T	15						.						52.0	52.0	52.0					15																	74494604		2198	4297	6495	72281657	SO:0001583	missense	64220	exon2			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.5C>T	15.37:g.74494604G>A	ENSP00000326085:p.Ser2Leu	Somatic		Capture	Illumina HiSeq	Phase_I	72281657	NM_001199041	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919815	0.73098	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000432245	D;D;D;D;T	0.82893	-1.58;-1.58;-1.6;-1.66;-1.43	4.37	2.38	0.29361	.	1.767920	0.03185	N	0.172560	D	0.83608	0.5291	M	0.64997	1.995	0.09310	N	0.999993	D;P;D;D;D;P	0.62365	0.975;0.87;0.991;0.975;0.975;0.87	P;B;P;P;P;B	0.47134	0.451;0.154;0.539;0.451;0.451;0.154	T	0.65998	-0.6032	10	0.72032	D	0.01	-2.761	5.2191	0.15358	0.1105:0.0:0.6787:0.2108	.	39;40;2;2;2;41	F5GYI8;B7Z5G7;Q9BX79-2;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;.;STRA6_HUMAN;.	L	2;2;41;2;39;2	ENSP00000378537:S2L;ENSP00000326085:S2L;ENSP00000413012:S2L;ENSP00000440238:S39L;ENSP00000407176:S2L	ENSP00000326085:S2L	S	-	2	0	STRA6	72281657	0.940000	0.31905	0.040000	0.18447	0.575000	0.36095	1.268000	0.33062	0.335000	0.23614	0.462000	0.41574	TCG		0.537	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1		
CYP11A1	1583	broad.mit.edu	37	15	74635462	74635462	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:74635462C>A	ENST00000268053.6	-	5	1000	c.846G>T	c.(844-846)caG>caT	p.Q282H	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.Q124H|CYP11A1_ENST00000419019.2_Missense_Mutation_p.Q124H	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	282					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Q282H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AGTAGAAGTTCTGGGTGTATA	0.527																																					p.Q282H	Esophageal Squamous(87;818 1337 4093 9268 37314)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G846T	15						.						115.0	107.0	109.0					15																	74635462		2197	4296	6493	72422515	SO:0001583	missense	1583	exon5			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.846G>T	15.37:g.74635462C>A	ENSP00000268053:p.Gln282His	Somatic		Capture	Illumina HiSeq	Phase_I	72422515	NM_000781	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817897	0.32145	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.69685	-0.42;-0.42;-0.42	4.46	3.53	0.40419	.	0.311639	0.35096	N	0.003457	T	0.63510	0.2517	M	0.73372	2.23	0.80722	D	1	B;B	0.31153	0.31;0.21	B;B	0.32149	0.141;0.04	T	0.68746	-0.5327	10	0.72032	D	0.01	-13.3551	9.5924	0.39554	0.0:0.8344:0.0:0.1656	.	252;282	B4DTE5;P05108	.;CP11A_HUMAN	H	282;124;124;47	ENSP00000268053:Q282H;ENSP00000351455:Q124H;ENSP00000405488:Q124H	ENSP00000268053:Q282H	Q	-	3	2	CYP11A1	72422515	1.000000	0.71417	0.623000	0.29173	0.020000	0.10135	1.398000	0.34554	2.035000	0.60131	0.442000	0.29010	CAG		0.527	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		
CYP1A1	1543	broad.mit.edu	37	15	75015325	75015325	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:75015325C>A	ENST00000379727.3	-	2	312	c.114G>T	c.(112-114)aaG>aaT	p.K38N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K38N|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K38N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K38N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	38					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.K38N(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CTGGTGGATTCTTCAGGCCTT	0.577									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.K38N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G114T	15						.						44.0	45.0	44.0					15																	75015325		2197	4296	6493	72802378	SO:0001583	missense	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.114G>T	15.37:g.75015325C>A	ENSP00000369050:p.Lys38Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72802378	NM_000499	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392438	0.25118	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.71461	-0.57;-0.57;-0.42	5.64	2.75	0.32379	.	0.162632	0.53938	D	0.000058	T	0.72374	0.3452	L	0.29908	0.895	0.35467	D	0.797022	D;P	0.89917	1.0;0.647	D;B	0.77557	0.99;0.349	T	0.77384	-0.2608	10	0.87932	D	0	.	8.6864	0.34240	0.0:0.7127:0.1074:0.1799	.	38;38	E7EMT5;P04798	.;CP1A1_HUMAN	N	38	ENSP00000369050:K38N;ENSP00000378488:K38N;ENSP00000378489:K38N	ENSP00000268062:K38N	K	-	3	2	CYP1A1	72802378	0.035000	0.19736	0.944000	0.38274	0.003000	0.03518	0.647000	0.24812	0.757000	0.33036	-0.766000	0.03442	AAG		0.577	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499	
UBE2Q2	92912	broad.mit.edu	37	15	76152223	76152223	+	Missense_Mutation	SNP	G	G	A	rs183750720	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:76152223G>A	ENST00000267938.4	+	3	669	c.287G>A	c.(286-288)cGt>cAt	p.R96H	UBE2Q2_ENST00000561851.1_Missense_Mutation_p.R80H|UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.R96H|UBE2Q2_ENST00000569423.1_Intron	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	96					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.R96H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TTGTAGCTTCGTCAGCAATTG	0.383													.|||	3	0.000599042	0.0	0.0	5008	,	,		18841	0.002		0.0	False		,,,				2504	0.001				p.R80H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	15						.						77.0	65.0	69.0					15																	76152223		2197	4294	6491	73939278	SO:0001583	missense	92912	exon3			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.287G>A	15.37:g.76152223G>A	ENSP00000267938:p.Arg96His	Somatic		Capture	Illumina HiSeq	Phase_I	73939278	NM_001145335	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	37	CCDS10286.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.10	2.734060	0.48939	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	T;T	0.44083	0.93;0.93	4.83	3.77	0.43336	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.072954	0.53938	D	0.000051	T	0.24699	0.0599	N	0.14661	0.345	0.24516	N	0.994189	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.11542	-1.0583	10	0.45353	T	0.12	.	9.5235	0.39149	0.0:0.0:0.6498:0.3502	.	80;96	E9PHD0;Q8WVN8	.;UB2Q2_HUMAN	H	96;96;80	ENSP00000340187:R96H;ENSP00000267938:R96H	ENSP00000267938:R96H	R	+	2	0	UBE2Q2	73939278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.637000	0.61346	2.427000	0.82271	0.632000	0.83419	CGT		0.383	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	
MORF4L1	10933	broad.mit.edu	37	15	79183343	79183343	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:79183343G>T	ENST00000331268.5	+	7	657	c.453G>T	c.(451-453)aaG>aaT	p.K151N	MORF4L1_ENST00000426013.2_Missense_Mutation_p.K112N|MORF4L1_ENST00000379535.4_Missense_Mutation_p.K137N|MORF4L1_ENST00000558746.1_Missense_Mutation_p.K85N|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Missense_Mutation_p.K24N|MORF4L1_ENST00000558502.1_Missense_Mutation_p.K24N	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	151	Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.K151N(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AAACGAAAAAGAACAAACAGA	0.289																																					p.K112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G336T	15						.						24.0	25.0	25.0					15																	79183343		2159	4257	6416	76970398	SO:0001583	missense	10933	exon6			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.453G>T	15.37:g.79183343G>T	ENSP00000331310:p.Lys151Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76970398	NM_006791	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558345	0.65538	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.33216	1.42;1.42;1.42	5.05	5.05	0.67936	.	0.051068	0.85682	D	0.000000	T	0.20820	0.0501	L	0.27053	0.805	0.58432	D	0.999995	B;P;B;B	0.38582	0.02;0.638;0.034;0.061	B;B;B;B	0.36666	0.024;0.23;0.079;0.04	T	0.03335	-1.1047	10	0.23891	T	0.37	-8.5785	12.0634	0.53574	0.0:0.1739:0.8261:0.0	.	112;137;112;151	A5D8W6;B3KTM8;Q9UBU8-2;Q9UBU8	.;.;.;MO4L1_HUMAN	N	137;112;151	ENSP00000368850:K137N;ENSP00000408880:K112N;ENSP00000331310:K151N	ENSP00000331310:K151N	K	+	3	2	MORF4L1	76970398	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.044000	0.71012	2.523000	0.85059	0.655000	0.94253	AAG		0.289	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791	
RASGRF1	5923	broad.mit.edu	37	15	79294045	79294045	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:79294045G>T	ENST00000419573.3	-	17	2856	c.2582C>A	c.(2581-2583)tCt>tAt	p.S861Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S845Y|RASGRF1_ENST00000394745.3_Missense_Mutation_p.S77Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	861					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S861Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTTGTTGGAGATTTAGTTGG	0.398																																					p.S861Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2582A	15						.						250.0	227.0	235.0					15																	79294045		2196	4293	6489	77081100	SO:0001583	missense	5923	exon17			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2582C>A	15.37:g.79294045G>T	ENSP00000405963:p.Ser861Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	77081100	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025233	0.75390	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.68331	-0.32;-0.32	4.88	4.88	0.63580	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.79857	0.4518	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.99;0.998;0.996;0.996	D;D;D;P;P	0.69142	0.935;0.962;0.935;0.907;0.898	T	0.82170	-0.0590	10	0.66056	D	0.02	.	13.5072	0.61491	0.0:0.0:1.0:0.0	.	257;861;845;863;845	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	Y	861;845;77	ENSP00000405963:S861Y;ENSP00000378228:S77Y	ENSP00000378224:S845Y	S	-	2	0	RASGRF1	77081100	1.000000	0.71417	0.058000	0.19502	0.992000	0.81027	8.424000	0.90267	2.256000	0.74724	0.491000	0.48974	TCT		0.398	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
CEMIP	57214	broad.mit.edu	37	15	81176580	81176580	+	Missense_Mutation	SNP	G	G	A	rs181470477		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:81176580G>A	ENST00000394685.3	+	7	1101	c.682G>A	c.(682-684)Gat>Aat	p.D228N	KIAA1199_ENST00000220244.3_Missense_Mutation_p.D228N|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D228N			Q8WUJ3	CEMIP_HUMAN		228					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.D228N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGCGGTGCCCGATGGCAGGAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		20525	0.0		0.001	False		,,,				2504	0.0				p.D228N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	15						.						158.0	148.0	151.0					15																	81176580		2203	4300	6503	78963635	SO:0001583	missense	57214	exon6																														ENST00000394685.3:c.682G>A	15.37:g.81176580G>A	ENSP00000378177:p.Asp228Asn	Somatic		Capture	Illumina HiSeq	Phase_I	78963635	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.902	-0.227181	0.06022	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.65916	-0.18;-0.18;-0.18	5.38	2.48	0.30137	.	0.742109	0.12598	N	0.455000	T	0.48519	0.1504	L	0.31926	0.97	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.33940	T	0.23	-4.5982	9.0645	0.36455	0.3528:0.0:0.6472:0.0	.	228	Q8WUJ3	K1199_HUMAN	N	228	ENSP00000220244:D228N;ENSP00000378177:D228N;ENSP00000348583:D228N	ENSP00000220244:D228N	D	+	1	0	KIAA1199	78963635	0.020000	0.18652	0.002000	0.10522	0.022000	0.10575	1.222000	0.32515	0.256000	0.21614	-0.135000	0.14842	GAT		0.463	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
CPEB1	64506	broad.mit.edu	37	15	83222646	83222646	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:83222646G>A	ENST00000562019.1	-	6	1271	c.955C>T	c.(955-957)Cct>Tct	p.P319S	CPEB1_ENST00000568128.1_Missense_Mutation_p.P319S|CPEB1_ENST00000450751.2_Missense_Mutation_p.P244S|CPEB1_ENST00000563800.1_Missense_Mutation_p.P346S|CPEB1_ENST00000261723.6_Missense_Mutation_p.P322S|CPEB1_ENST00000398592.2_Missense_Mutation_p.P93S|CPEB1_ENST00000423133.2_Missense_Mutation_p.P244S|CPEB1_ENST00000564522.1_Missense_Mutation_p.P244S|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.P244S|CPEB1_ENST00000568757.1_Missense_Mutation_p.P244S|RP11-152F13.10_ENST00000562833.1_Silent_p.F53F			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	319	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.P244S(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATATCCCAAGGAACACCTCCT	0.493																																					p.P244S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	15						.						94.0	89.0	91.0					15																	83222646		1892	4119	6011	81019701	SO:0001583	missense	64506	exon4			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.955C>T	15.37:g.83222646G>A	ENSP00000457836:p.Pro319Ser	Somatic		Capture	Illumina HiSeq	Phase_I	81019701	NM_001079535	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.098204	0.94197	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	T	0.28928	0.0718	L	0.57130	1.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	T	0.00043	-1.2225	10	0.56958	D	0.05	-11.4023	20.3789	0.98926	0.0:0.0:1.0:0.0	.	322;319;319;319	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	S	319;319;244;244;322;93	ENSP00000397526:P244S;ENSP00000381591:P244S;ENSP00000261723:P322S;ENSP00000381592:P93S	ENSP00000261723:P322S	P	-	1	0	CPEB1	81019701	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.668000	0.98619	2.826000	0.97356	0.563000	0.77884	CCT		0.493	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	
AP3B2	8120	broad.mit.edu	37	15	83330928	83330928	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:83330928G>A	ENST00000261722.3	-	23	3060	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	AP3B2_ENST00000535348.1_Silent_p.F919F|AP3B2_ENST00000535359.1_Silent_p.F970F|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	951					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.F950F(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACCACAGCTGGAAGTTGGCTG	0.532																																					p.S951F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2852T	15						.						53.0	55.0	54.0					15																	83330928		2007	4170	6177	81127983	SO:0001819	synonymous_variant	8120	exon23			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2853C>T	15.37:g.83330928G>A		Somatic		Capture	Illumina HiSeq	Phase_I	81127983	NM_004644	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																				0.532	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		
TM6SF1	53346	broad.mit.edu	37	15	83791524	83791524	+	Missense_Mutation	SNP	G	G	A	rs142876988		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:83791524G>A	ENST00000322019.9	+	6	771	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	TM6SF1_ENST00000565774.1_Missense_Mutation_p.R166Q|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Missense_Mutation_p.R169Q			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	166						integral component of membrane (GO:0016021)		p.R166Q(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TATGGAACACGAATTTGCCCT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		19053	0.001		0.0	False		,,,				2504	0.0				p.R166Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497A	15						.	G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	117.0	109.0	111.0		497,497	5.3	1.0	15	dbSNP_134	111	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TM6SF1	NM_001144903.1,NM_023003.3	43,43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	166/340,166/371	83791524	1,13001	2202	4299	6501	81582528	SO:0001583	missense	53346	exon6			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.497G>A	15.37:g.83791524G>A	ENSP00000317000:p.Arg166Gln	Somatic		Capture	Illumina HiSeq	Phase_I	81582528	NM_023003	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326252	0.60743	0.0	1.16E-4	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.28895	1.59;1.59	6.17	5.26	0.73747	.	0.309320	0.35179	N	0.003383	T	0.22742	0.0549	L	0.44542	1.39	0.80722	D	1	P;P	0.40398	0.716;0.716	B;B	0.25614	0.062;0.062	T	0.03784	-1.1004	10	0.44086	T	0.13	-5.4162	14.3746	0.66865	0.0713:0.0:0.9287:0.0	.	166;166	E9PD04;Q9BZW5	.;TM6S1_HUMAN	Q	166;169;166	ENSP00000317000:R166Q;ENSP00000368696:R169Q	ENSP00000317000:R166Q	R	+	2	0	TM6SF1	81582528	0.900000	0.30661	0.991000	0.47740	0.999000	0.98932	2.304000	0.43655	1.627000	0.50400	0.655000	0.94253	CGA		0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	
BNC1	646	broad.mit.edu	37	15	83926840	83926840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:83926840C>T	ENST00000345382.2	-	5	2424	c.2339G>A	c.(2338-2340)aGc>aAc	p.S780N	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S773N	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	780					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S780N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGCTTCCTGGCTCAATGCTTT	0.433																																					p.S780N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2339A	15						.						148.0	134.0	139.0					15																	83926840		2203	4300	6503	81717844	SO:0001583	missense	646	exon5			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2339G>A	15.37:g.83926840C>T	ENSP00000307041:p.Ser780Asn	Somatic		Capture	Illumina HiSeq	Phase_I	81717844	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	5.996	0.367746	0.11352	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.45276	0.9	5.73	0.26	0.15588	.	0.397832	0.29653	N	0.011551	T	0.21509	0.0518	N	0.08118	0	0.23023	N	0.998414	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16247	-1.0409	10	0.48119	T	0.1	-5.3769	11.3656	0.49671	0.0:0.2757:0.5597:0.1646	.	773;780	F5GY04;Q01954	.;BNC1_HUMAN	N	780;773	ENSP00000307041:S780N	ENSP00000307041:S780N	S	-	2	0	BNC1	81717844	1.000000	0.71417	0.007000	0.13788	0.052000	0.14988	3.237000	0.51344	-0.218000	0.10018	-1.087000	0.02190	AGC		0.433	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
BNC1	646	broad.mit.edu	37	15	83933074	83933074	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:83933074G>C	ENST00000345382.2	-	4	1014	c.929C>G	c.(928-930)gCt>gGt	p.A310G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A303G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	310					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A310G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTAGTAATAGCATCCGGACA	0.433																																					p.A310G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C929G	15						.						115.0	116.0	115.0					15																	83933074		2203	4300	6503	81724078	SO:0001583	missense	646	exon4			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.929C>G	15.37:g.83933074G>C	ENSP00000307041:p.Ala310Gly	Somatic		Capture	Illumina HiSeq	Phase_I	81724078	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	6.939	0.543105	0.13250	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44881	0.91	5.23	3.15	0.36227	.	1.003580	0.08017	N	0.991337	T	0.27278	0.0669	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25293	-1.0136	10	0.23891	T	0.37	0.0541	1.1439	0.01771	0.1431:0.2133:0.3734:0.2703	.	303;310	F5GY04;Q01954	.;BNC1_HUMAN	G	310;303	ENSP00000307041:A310G	ENSP00000307041:A310G	A	-	2	0	BNC1	81724078	0.000000	0.05858	0.002000	0.10522	0.975000	0.68041	0.909000	0.28558	1.364000	0.46038	0.655000	0.94253	GCT		0.433	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
SH3GL3	6457	broad.mit.edu	37	15	84228059	84228059	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:84228059C>A	ENST00000427482.2	+	2	406	c.100C>A	c.(100-102)Ctt>Att	p.L34I	SH3GL3_ENST00000434347.1_Missense_Mutation_p.L42I|SH3GL3_ENST00000324537.5_Missense_Mutation_p.L42I|SH3GL3_ENST00000535412.1_Missense_Mutation_p.L34I	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	34	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.L42I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CGATGAATTTCTTGACATGGA	0.299											OREG0023396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100A	15						.						78.0	79.0	79.0					15																	84228059		2203	4299	6502	82019063	SO:0001583	missense	6457	exon2			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.100C>A	15.37:g.84228059C>A	ENSP00000391372:p.Leu34Ile	Somatic	1227	Capture	Illumina HiSeq	Phase_I	82019063	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329678	0.24167	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.55	3.63	0.41609	BAR (3);	0.583342	0.17036	N	0.189517	T	0.48554	0.1506	L	0.29908	0.895	0.28544	N	0.911952	B;B;B;B	0.11235	0.001;0.004;0.0;0.001	B;B;B;B	0.16289	0.005;0.01;0.015;0.006	T	0.44159	-0.9346	10	0.41790	T	0.15	-14.8216	10.3149	0.43732	0.0:0.9034:0.0:0.0966	.	34;34;34;42	Q8IVP1;Q99963-4;Q99963;Q99963-3	.;.;SH3G3_HUMAN;.	I	34;34;42;42	ENSP00000391372:L34I;ENSP00000439239:L34I;ENSP00000320092:L42I;ENSP00000397871:L42I	ENSP00000320092:L42I	L	+	1	0	SH3GL3	82019063	0.013000	0.17824	0.996000	0.52242	0.953000	0.61014	0.119000	0.15626	1.131000	0.42111	0.563000	0.77884	CTT		0.299	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
ADAMTSL3	57188	broad.mit.edu	37	15	84553894	84553894	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:84553894C>A	ENST00000286744.5	+	10	1226	c.1002C>A	c.(1000-1002)ttC>ttA	p.F334L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.F334L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	334						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F334L(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGTTCTTCTTTTACCAGC	0.493																																					p.F334L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1002A	15						.						213.0	143.0	167.0					15																	84553894		2203	4300	6503	82344898	SO:0001583	missense	57188	exon10			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1002C>A	15.37:g.84553894C>A	ENSP00000286744:p.Phe334Leu	Somatic		Capture	Illumina HiSeq	Phase_I	82344898	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689069	0.48097	.	.	ENSG00000156218	ENST00000286744	T	0.63096	-0.02	5.18	4.26	0.50523	.	0.595534	0.19042	N	0.124260	T	0.40067	0.1102	N	0.22421	0.69	0.34610	D	0.717502	B;P	0.52463	0.036;0.953	B;B	0.39217	0.034;0.294	T	0.46816	-0.9164	10	0.10636	T	0.68	.	8.5182	0.33259	0.0:0.7117:0.0:0.2883	.	334;334	P82987-2;P82987	.;ATL3_HUMAN	L	334	ENSP00000286744:F334L	ENSP00000286744:F334L	F	+	3	2	ADAMTSL3	82344898	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	0.131000	0.15870	1.318000	0.45170	0.655000	0.94253	TTC		0.493	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ADAMTSL3	57188	broad.mit.edu	37	15	84659917	84659917	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:84659917C>T	ENST00000286744.5	+	23	4148	c.3924C>T	c.(3922-3924)atC>atT	p.I1308I	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Silent_p.I1308I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1308	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I1308I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAGGCATCGTGGAGGCAG	0.488																																					p.I1308I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3924T	15						.						259.0	235.0	243.0					15																	84659917		2203	4300	6503	82450921	SO:0001819	synonymous_variant	57188	exon23			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3924C>T	15.37:g.84659917C>T		Somatic		Capture	Illumina HiSeq	Phase_I	82450921	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.488	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
AGBL1	123624	broad.mit.edu	37	15	86807502	86807502	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:86807502A>C	ENST00000441037.2	+	10	1057	c.962A>C	c.(961-963)aAa>aCa	p.K321T	AGBL1_ENST00000421325.2_Missense_Mutation_p.K321T|AGBL1_ENST00000389298.3_Missense_Mutation_p.K52T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	321					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K321T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGCAGTCCAAACTTGGAGAT	0.453																																					p.K321T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A962C	15						.						37.0	40.0	39.0					15																	86807502		2176	4291	6467	84608506	SO:0001583	missense	123624	exon10			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.962A>C	15.37:g.86807502A>C	ENSP00000413001:p.Lys321Thr	Somatic		Capture	Illumina HiSeq	Phase_I	84608506	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	9.803	1.181145	0.21787	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11169	2.83;2.8	4.92	-2.23	0.06930	Armadillo-type fold (1);	0.956601	0.08676	N	0.910169	T	0.07458	0.0188	L	0.31578	0.945	0.09310	N	1	B;B;B	0.16802	0.019;0.019;0.007	B;B;B	0.12156	0.007;0.007;0.007	T	0.39800	-0.9596	10	0.72032	D	0.01	-1.3507	5.2745	0.15641	0.5403:0.2627:0.197:0.0	.	20;52;321	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	T	350;321;52	ENSP00000397173:K321T;ENSP00000373949:K52T	ENSP00000373949:K52T	K	+	2	0	AGBL1	84608506	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.572000	0.23684	-0.406000	0.07588	0.528000	0.53228	AAA		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AGBL1	123624	broad.mit.edu	37	15	86807809	86807809	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:86807809C>T	ENST00000441037.2	+	10	1364	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	AGBL1_ENST00000421325.2_Silent_p.D423D|AGBL1_ENST00000389298.3_Silent_p.D154D	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	423					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.D423D(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTGGGACGTAGATGCAA	0.438																																					p.D423D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1269T	15						.						97.0	99.0	98.0					15																	86807809		1884	4116	6000	84608813	SO:0001819	synonymous_variant	123624	exon10			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1269C>T	15.37:g.86807809C>T		Somatic		Capture	Illumina HiSeq	Phase_I	84608813	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.438	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
NTRK3	4916	broad.mit.edu	37	15	88472461	88472461	+	Silent	SNP	G	G	A	rs377070065		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:88472461G>A	ENST00000360948.2	-	16	2255	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	NTRK3_ENST00000357724.2_Silent_p.F690F|NTRK3_ENST00000394480.2_Silent_p.F698F|NTRK3_ENST00000355254.2_Silent_p.F698F|NTRK3_ENST00000557856.1_Silent_p.F690F|NTRK3_ENST00000542733.2_Silent_p.F600F|NTRK3_ENST00000558676.1_Silent_p.F690F	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F698F(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGACATGCCGAAGTCCCCAA	0.547			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.F698F			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2094T	15						.	G	,	0,4402		0,0,2201	111.0	103.0	106.0		2094,2094	-4.6	0.9	15		106	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	NTRK3	NM_001012338.2,NM_002530.3	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	698/840,698/826	88472461	1,12999	2201	4299	6500	86273465	SO:0001819	synonymous_variant	4916	exon16			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2094C>T	15.37:g.88472461G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86273465	NM_002530	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
RLBP1	6017	broad.mit.edu	37	15	89753629	89753629	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:89753629C>T	ENST00000268125.5	-	9	1280	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	281	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.D281N(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	ATGTTCTCATCGATCTCCTGG	0.577																																					p.D281N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G841A	15						.						77.0	73.0	74.0					15																	89753629		2200	4299	6499	87554633	SO:0001583	missense	6017	exon9			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.841G>A	15.37:g.89753629C>T	ENSP00000268125:p.Asp281Asn	Somatic		Capture	Illumina HiSeq	Phase_I	87554633	NM_000326	B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519086	0.27211	.	.	ENSG00000140522	ENST00000268125	D	0.86030	-2.06	5.21	4.29	0.51040	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	L	0.52126	1.63	0.80722	D	1	P	0.35208	0.49	B	0.26094	0.066	T	0.76030	-0.3108	10	0.30854	T	0.27	-5.3024	14.0021	0.64439	0.0:0.9267:0.0:0.0733	.	281	P12271	RLBP1_HUMAN	N	281	ENSP00000268125:D281N	ENSP00000268125:D281N	D	-	1	0	RLBP1	87554633	1.000000	0.71417	0.042000	0.18584	0.921000	0.55340	5.751000	0.68720	1.204000	0.43247	0.555000	0.69702	GAT		0.577	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326	
POLG	5428	broad.mit.edu	37	15	89862487	89862487	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:89862487G>A	ENST00000268124.5	-	19	3409	c.3076C>T	c.(3076-3078)Cgc>Tgc	p.R1026C	POLG_ENST00000442287.2_Missense_Mutation_p.R1026C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1026					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.R1026C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGGACCTTGCGCAGATCCTGC	0.567								DNA polymerases (catalytic subunits)																													p.R1026C	Colon(73;648 1203 11348 18386 27782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3076T	15						.						71.0	59.0	63.0					15																	89862487		2200	4299	6499	87663491	SO:0001583	missense	5428	exon19			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3076C>T	15.37:g.89862487G>A	ENSP00000268124:p.Arg1026Cys	Somatic		Capture	Illumina HiSeq	Phase_I	87663491	NM_001126131	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308679	0.81247	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96913	-4.17;-4.17	5.11	3.15	0.36227	DNA-directed DNA polymerase, family A, palm domain (2);	0.054949	0.64402	D	0.000001	D	0.96876	0.8980	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.96597	0.9442	10	0.87932	D	0	-22.8175	10.2255	0.43222	0.0711:0.0:0.7941:0.1348	.	1026	P54098	DPOG1_HUMAN	C	1026	ENSP00000268124:R1026C;ENSP00000399851:R1026C	ENSP00000268124:R1026C	R	-	1	0	POLG	87663491	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.117000	0.57877	1.397000	0.46682	0.555000	0.69702	CGC		0.567	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
TICRR	90381	broad.mit.edu	37	15	90152048	90152048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:90152048C>T	ENST00000268138.7	+	15	2842	c.2737C>T	c.(2737-2739)Cga>Tga	p.R913*	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Nonsense_Mutation_p.R912*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	913					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R913*(1)									GACCAAAGTTCGAAGAAATCT	0.378																																					p.R913X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2737T	15						.						70.0	67.0	68.0					15																	90152048		1809	4087	5896	87953052	SO:0001587	stop_gained	90381	exon15			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2737C>T	15.37:g.90152048C>T	ENSP00000268138:p.Arg913*	Somatic		Capture	Illumina HiSeq	Phase_I	87953052	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	38	6.944254	0.97952	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6488	13.9896	0.64357	0.2519:0.7481:0.0:0.0	.	.	.	.	X	913	.	ENSP00000268138:R913X	R	+	1	2	C15orf42	87953052	0.998000	0.40836	1.000000	0.80357	0.940000	0.58332	1.845000	0.39279	2.767000	0.95098	0.655000	0.94253	CGA		0.378	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
ANPEP	290	broad.mit.edu	37	15	90340831	90340831	+	Missense_Mutation	SNP	C	C	T	rs182672249		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:90340831C>T	ENST00000300060.6	-	15	2445	c.2132G>A	c.(2131-2133)cGc>cAc	p.R711H	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	711	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.R711H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GACCTCGGAGCGGTCAAACAT	0.542																																					p.R711H	NSCLC(30;827 977 2459 19669 26125)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2132A	15						.						149.0	133.0	139.0					15																	90340831		2200	4299	6499	88141835	SO:0001583	missense	290	exon15			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2132G>A	15.37:g.90340831C>T	ENSP00000300060:p.Arg711His	Somatic		Capture	Illumina HiSeq	Phase_I	88141835	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.587270	0.96590	.	.	ENSG00000166825	ENST00000300060	T	0.05580	3.42	5.46	5.46	0.80206	.	0.048554	0.85682	D	0.000000	T	0.16041	0.0386	M	0.82193	2.58	0.58432	D	0.999992	P	0.48998	0.918	P	0.46339	0.513	T	0.10497	-1.0627	10	0.19147	T	0.46	.	18.2369	0.89952	0.0:1.0:0.0:0.0	.	711	P15144	AMPN_HUMAN	H	711	ENSP00000300060:R711H	ENSP00000300060:R711H	R	-	2	0	ANPEP	88141835	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.934000	0.70138	2.728000	0.93425	0.655000	0.94253	CGC		0.542	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
IQGAP1	8826	broad.mit.edu	37	15	90997712	90997712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:90997712G>T	ENST00000268182.5	+	14	1664	c.1540G>T	c.(1540-1542)Gaa>Taa	p.E514*	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	514					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.E514*(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGAGAATAATGAATTCATTAC	0.448																																					p.E514X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1540T	15						.						193.0	168.0	177.0					15																	90997712		2198	4298	6496	88798716	SO:0001587	stop_gained	8826	exon14			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1540G>T	15.37:g.90997712G>T	ENSP00000268182:p.Glu514*	Somatic		Capture	Illumina HiSeq	Phase_I	88798716	NM_003870	A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542931	0.98348	.	.	ENSG00000140575	ENST00000268182	.	.	.	5.08	4.17	0.49024	.	0.482253	0.22492	N	0.059353	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.0749	12.8045	0.57605	0.0784:0.0:0.9216:0.0	.	.	.	.	X	514	.	ENSP00000268182:E514X	E	+	1	0	IQGAP1	88798716	1.000000	0.71417	0.194000	0.23346	0.935000	0.57460	7.270000	0.78493	1.392000	0.46585	0.650000	0.86243	GAA		0.448	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
BLM	641	broad.mit.edu	37	15	91352370	91352370	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:91352370C>T	ENST00000355112.3	+	20	3873	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.S1121F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1252	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.S1252F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCACAGAATCTTTATCTTCT	0.373			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.S1252F		yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3755T	15						.						172.0	169.0	170.0					15																	91352370		2198	4298	6496	89153374	SO:0001583	missense	641	exon20	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3755C>T	15.37:g.91352370C>T	ENSP00000347232:p.Ser1252Phe	Somatic		Capture	Illumina HiSeq	Phase_I	89153374	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457111	0.43634	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.47528	0.84	5.58	5.58	0.84498	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.325700	0.33938	N	0.004414	T	0.63177	0.2489	L	0.58810	1.83	0.46279	D	0.998964	D;P	0.61697	0.99;0.815	D;P	0.64506	0.926;0.786	T	0.55952	-0.8059	10	0.27785	T	0.31	-0.1398	17.4365	0.87554	0.0:1.0:0.0:0.0	.	1252;1252	B2RAN0;P54132	.;BLM_HUMAN	F	1252;882;439	ENSP00000347232:S1252F	ENSP00000347232:S1252F	S	+	2	0	BLM	89153374	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.555000	0.53727	2.774000	0.95407	0.655000	0.94253	TCT		0.373	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
MAN2A2	4122	broad.mit.edu	37	15	91462969	91462969	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:91462969C>A	ENST00000559717.1	+	23	3864	c.3405C>A	c.(3403-3405)gtC>gtA	p.V1135V	MAN2A2_ENST00000360468.3_Silent_p.V1135V|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000431652.2_Silent_p.V643V|MAN2A2_ENST00000430376.2_Silent_p.V325V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1135					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.V1135V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCACTGACGTCTATTTGGAGC	0.537																																					p.V1135V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3405A	15						.						208.0	176.0	187.0					15																	91462969		2198	4298	6496	89263973	SO:0001819	synonymous_variant	4122	exon22			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3405C>A	15.37:g.91462969C>A		Somatic		Capture	Illumina HiSeq	Phase_I	89263973	NM_006122	A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																				0.537	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
MCTP2	55784	broad.mit.edu	37	15	94943151	94943151	+	Splice_Site	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:94943151T>C	ENST00000357742.4	+	15	1892	c.1892T>C	c.(1891-1893)gTg>gCg	p.V631A	MCTP2_ENST00000451018.3_Splice_Site_p.V631A|MCTP2_ENST00000331706.4_Splice_Site_p.V219A|MCTP2_ENST00000557742.1_Splice_Site_p.V219A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	631					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.V631A(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTTTCTAGGTGAAAGCAAGT	0.448																																					p.V631A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1892C	15						.						88.0	90.0	89.0					15																	94943151		2197	4298	6495	92744155	SO:0001630	splice_region_variant	55784	exon15			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1891-1T>C	15.37:g.94943151T>C		Somatic		Capture	Illumina HiSeq	Phase_I	92744155	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055968	0.76074	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.69685	-0.42;-0.23;-0.22	5.34	5.34	0.76211	C2 calcium/lipid-binding domain, CaLB (1);	0.346611	0.33496	N	0.004848	T	0.70254	0.3203	M	0.68317	2.08	0.41177	D	0.986203	B;P;P	0.51057	0.144;0.941;0.502	B;P;B	0.47251	0.087;0.542;0.235	T	0.75883	-0.3160	10	0.87932	D	0	.	13.871	0.63619	0.0:0.0:0.0:1.0	.	631;219;631	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	A	631;219;631	ENSP00000395109:V631A;ENSP00000329646:V219A;ENSP00000350377:V631A	ENSP00000329646:V219A	V	+	2	0	MCTP2	92744155	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.620000	0.67736	2.019000	0.59389	0.460000	0.39030	GTG		0.448	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	Missense_Mutation
MCTP2	55784	broad.mit.edu	37	15	95019952	95019952	+	Missense_Mutation	SNP	G	G	A	rs187187495		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:95019952G>A	ENST00000357742.4	+	21	2498	c.2498G>A	c.(2497-2499)cGa>cAa	p.R833Q	MCTP2_ENST00000451018.3_Missense_Mutation_p.R778Q|MCTP2_ENST00000449432.3_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	833					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.R833Q(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAAGCTTCGAAATCCCTAT	0.363																																					p.R778Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2333A	15						.						99.0	103.0	101.0					15																	95019952		2197	4298	6495	92820956	SO:0001583	missense	55784	exon19			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2498G>A	15.37:g.95019952G>A	ENSP00000350377:p.Arg833Gln	Somatic		Capture	Illumina HiSeq	Phase_I	92820956	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368949	0.82463	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.72942	-0.7;-0.6	5.77	5.77	0.91146	Phosphoribosyltransferase C-terminal (1);	0.116836	0.56097	D	0.000032	D	0.86748	0.6007	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.87759	0.2597	10	0.72032	D	0.01	.	19.9944	0.97379	0.0:0.0:1.0:0.0	.	778;833	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	Q	778;833	ENSP00000395109:R778Q;ENSP00000350377:R833Q	ENSP00000350377:R833Q	R	+	2	0	MCTP2	92820956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.874000	0.87199	2.720000	0.93068	0.557000	0.71058	CGA		0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MCTP2	55784	broad.mit.edu	37	15	95022240	95022240	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:95022240C>T	ENST00000357742.4	+	22	2614	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R817W|MCTP2_ENST00000449432.3_3'UTR|RP11-4F5.2_ENST00000565106.1_lincRNA	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	872					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.R872W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGCCCCCTGCGGAAGAAGCG	0.527																																					p.R817W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2449T	15						.						78.0	72.0	74.0					15																	95022240		2197	4298	6495	92823244	SO:0001583	missense	55784	exon20			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2614C>T	15.37:g.95022240C>T	ENSP00000350377:p.Arg872Trp	Somatic		Capture	Illumina HiSeq	Phase_I	92823244	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803260	0.70682	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.69175	-0.38;-0.36	5.3	1.74	0.24563	.	0.317794	0.30473	N	0.009543	T	0.73606	0.3608	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.75668	-0.3238	10	0.87932	D	0	.	13.2134	0.59839	0.6928:0.3072:0.0:0.0	.	817;872	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	W	817;872	ENSP00000395109:R817W;ENSP00000350377:R872W	ENSP00000350377:R872W	R	+	1	2	MCTP2	92823244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.808000	0.38912	0.664000	0.31047	0.561000	0.74099	CGG		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
FAM169B	283777	broad.mit.edu	37	15	98982944	98982944	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:98982944C>A	ENST00000558256.1	-	7	744	c.495G>T	c.(493-495)aaG>aaT	p.K165N	FAM169B_ENST00000332908.4_Missense_Mutation_p.K165N	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	165								p.K165N(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CTGGATCATCCTTTGTGTCTT	0.542																																					p.K165N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G495T	15						.						98.0	96.0	96.0					15																	98982944		2011	4167	6178	96800467	SO:0001583	missense	283777	exon7				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.495G>T	15.37:g.98982944C>A	ENSP00000453554:p.Lys165Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96800467	NM_182562	B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513980	0.27123	.	.	ENSG00000185087	ENST00000332908	T	0.52295	0.67	5.01	3.05	0.35203	.	0.687257	0.12296	N	0.481617	T	0.31638	0.0803	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.22034	-1.0228	10	0.25751	T	0.34	2.8027	8.2195	0.31532	0.1788:0.6487:0.1725:0.0	.	165	Q8N8A8	F169B_HUMAN	N	165	ENSP00000332615:K165N	ENSP00000332615:K165N	K	-	3	2	FAM169B	96800467	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.604000	0.24164	0.471000	0.27319	-0.188000	0.12872	AAG		0.542	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	
SYNM	23336	broad.mit.edu	37	15	99666943	99666943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:99666943G>T	ENST00000560674.1	+	3	563	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Nonsense_Mutation_p.E317*|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Nonsense_Mutation_p.E317*			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	318	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E317*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATTGGAAGGAGAAAGTAATCC	0.393																																					p.E317D	Pancreas(125;1071 1762 21750 40003 40381)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G951T	15						.						90.0	86.0	88.0					15																	99666943		1851	4100	5951	97484466	SO:0001587	stop_gained	23336	exon3			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.94G>T	15.37:g.99666943G>T	ENSP00000453040:p.Glu32*	Somatic		Capture	Illumina HiSeq	Phase_I	97484466	NM_015286	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	G	38	7.211009	0.98139	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.0104	0.58727	0.0774:0.0:0.9225:0.0	.	.	.	.	X	317	.	ENSP00000330469:E317X	E	+	1	0	SYNM	97484466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.831000	0.69330	2.770000	0.95276	0.655000	0.94253	GAA		0.393	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
CERS3	204219	broad.mit.edu	37	15	101013181	101013181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:101013181C>T	ENST00000394113.1	-	11	1376	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CERS3_ENST00000538112.2_Missense_Mutation_p.R229H|CERS3_ENST00000284382.4_Missense_Mutation_p.R229H|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	229	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R229H(1)									GGTCCCACTGCGAATATAATT	0.433																																					p.R229H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	15						.						116.0	100.0	105.0					15																	101013181		2203	4300	6503	98830704	SO:0001583	missense	204219	exon10				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.686G>A	15.37:g.101013181C>T	ENSP00000377672:p.Arg229His	Somatic		Capture	Illumina HiSeq	Phase_I	98830704	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215021	0.95104	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.86097	-2.07;-2.07	5.92	5.92	0.95590	TRAM/LAG1/CLN8 homology domain (3);	0.097175	0.64402	D	0.000001	D	0.93598	0.7956	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93419	0.6775	10	0.54805	T	0.06	-7.9321	19.0795	0.93177	0.0:1.0:0.0:0.0	.	229	Q8IU89	CERS3_HUMAN	H	229;240;229	ENSP00000284382:R229H;ENSP00000437640:R229H	ENSP00000284382:R229H	R	-	2	0	CERS3	98830704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.620000	0.74224	2.795000	0.96236	0.655000	0.94253	CGC		0.433	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
ALDH1A3	220	broad.mit.edu	37	15	101432745	101432745	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:101432745T>A	ENST00000329841.5	+	4	908	c.376T>A	c.(376-378)Ttt>Att	p.F126I	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	126					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.F126I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AGGGAAGCCATTTCTTCATGC	0.473																																					p.F126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T376A	15						.						164.0	159.0	161.0					15																	101432745		2203	4300	6503	99250268	SO:0001583	missense	220	exon4			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.376T>A	15.37:g.101432745T>A	ENSP00000332256:p.Phe126Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99250268	NM_000693	Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.364070	0.41902	.	.	ENSG00000184254	ENST00000329841;ENST00000415812	T	0.73789	-0.78	5.66	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.044220	0.85682	N	0.000000	T	0.58524	0.2128	N	0.00329	-1.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69731	-0.5066	10	0.32370	T	0.25	.	11.1983	0.48726	0.1378:0.0:0.0:0.8622	.	126	P47895	AL1A3_HUMAN	I	126	ENSP00000332256:F126I	ENSP00000332256:F126I	F	+	1	0	ALDH1A3	99250268	1.000000	0.71417	0.287000	0.24848	0.373000	0.29922	7.288000	0.78691	0.946000	0.37632	0.454000	0.30748	TTT		0.473	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		
PCSK6	5046	broad.mit.edu	37	15	101938736	101938736	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr15:101938736T>G	ENST00000348070.1	-	8	865	c.866A>C	c.(865-867)aAg>aCg	p.K289T	PCSK6_ENST00000331826.7_Missense_Mutation_p.K124T|PCSK6_ENST00000344273.2_Missense_Mutation_p.K289T|PCSK6_ENST00000358417.3_Missense_Mutation_p.K289T|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.K289T	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	290	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.K289T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCAGCGACTTTGCCTCGAC	0.647																																					p.K289N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A867C	15						.						76.0	79.0	78.0					15																	101938736		2107	4258	6365	99756259	SO:0001583	missense	5046	exon7				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.866A>C	15.37:g.101938736T>G	ENSP00000305056:p.Lys289Thr	Somatic		Capture	Illumina HiSeq	Phase_I	99756259	NM_138322	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	T	20.9	4.059531	0.76074	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.19	5.19	0.71726	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	L	0.38733	1.17	0.50632	D	0.999887	D;D;D;D;P;D;D;D;D	0.89917	1.0;0.99;0.974;0.968;0.891;0.974;0.993;0.999;0.999	D;P;P;P;P;P;P;D;D	0.91635	0.999;0.828;0.777;0.669;0.777;0.777;0.88;0.979;0.988	T	0.82327	-0.0512	10	0.29301	T	0.29	-35.1574	14.5228	0.67863	0.0:0.0:0.0:1.0	.	290;195;289;290;289;289;290;290;289	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	T	289;289;194;289;289;124	ENSP00000305056:K289T;ENSP00000351193:K289T;ENSP00000344410:K289T;ENSP00000381243:K289T;ENSP00000332052:K124T	ENSP00000332052:K124T	K	-	2	0	PCSK6	99756259	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	3.102000	0.50291	2.079000	0.62486	0.533000	0.62120	AAG		0.647	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
TEKT5	146279	broad.mit.edu	37	16	10788677	10788677	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:10788677G>A	ENST00000283025.2	-	1	125	c.54C>T	c.(52-54)tgC>tgT	p.C18C	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	18						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.C18C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCAAGCCACAGCATTTCTTGG	0.562																																					p.C18C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	16						.						56.0	51.0	53.0					16																	10788677		2195	4300	6495	10696178	SO:0001819	synonymous_variant	146279	exon1				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.54C>T	16.37:g.10788677G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10696178	NM_144674	A1L3Z3	Silent	SNP	ENST00000283025.2	37	CCDS10542.1																																																																																				0.562	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
ERCC4	2072	broad.mit.edu	37	16	14029072	14029072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:14029072C>T	ENST00000311895.7	+	8	1292	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	428	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.A428V(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACTCTTGGAGCGGAGGCCTTC	0.403			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.A428V		yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1283T	16						.						124.0	119.0	120.0					16																	14029072		2197	4300	6497	13936573	SO:0001583	missense	2072	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1283C>T	16.37:g.14029072C>T	ENSP00000310520:p.Ala428Val	Somatic		Capture	Illumina HiSeq	Phase_I	13936573	NM_005236	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124317	0.56613	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60299	0.2	5.77	4.83	0.62350	.	0.197899	0.53938	D	0.000042	T	0.60894	0.2304	M	0.70275	2.135	0.43263	D	0.995203	D	0.57571	0.98	P	0.45538	0.484	T	0.65738	-0.6095	10	0.49607	T	0.09	-6.1335	14.1324	0.65263	0.0:0.9283:0.0:0.0717	.	428	Q92889	XPF_HUMAN	V	428;417	ENSP00000310520:A428V	ENSP00000310520:A428V	A	+	2	0	ERCC4	13936573	1.000000	0.71417	0.028000	0.17463	0.224000	0.24922	5.775000	0.68915	1.449000	0.47699	-0.143000	0.13931	GCG		0.403	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
PARN	5073	broad.mit.edu	37	16	14530619	14530619	+	Silent	SNP	C	C	T	rs370090572		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:14530619C>T	ENST00000437198.2	-	24	2016	c.1875G>A	c.(1873-1875)tcG>tcA	p.S625S	PARN_ENST00000341484.7_Silent_p.S564S|PARN_ENST00000420015.2_Silent_p.S579S|PARN_ENST00000539279.1_Silent_p.S450S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	625					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.S625S(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGCTGTTCTTCGAGATGCTTC	0.547																																					p.S625S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1875A	16						.						49.0	50.0	49.0					16																	14530619		1977	4182	6159	14438120	SO:0001819	synonymous_variant	5073	exon24			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1875G>A	16.37:g.14530619C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14438120	NM_002582	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	CCDS45419.1																																																																																				0.547	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	
PARN	5073	broad.mit.edu	37	16	14576608	14576608	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:14576608C>A	ENST00000437198.2	-	22	1698	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	PARN_ENST00000341484.7_Missense_Mutation_p.E458D|PARN_ENST00000420015.2_Missense_Mutation_p.E473D|PARN_ENST00000539279.1_Missense_Mutation_p.E344D	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	519					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.E519D(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGATCTGCTTCTCTTCCTGTT	0.418																																					p.E519D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1557T	16						.						185.0	167.0	173.0					16																	14576608		1865	4117	5982	14484109	SO:0001583	missense	5073	exon22			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1557G>T	16.37:g.14576608C>A	ENSP00000387911:p.Glu519Asp	Somatic		Capture	Illumina HiSeq	Phase_I	14484109	NM_002582	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838500	0.32513	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.24	0.141	0.14811	Poly(A)-specific ribonuclease, RNA-binding (1);Nucleotide-binding, alpha-beta plait (1);	0.627824	0.16692	N	0.203487	T	0.22936	0.0554	L	0.36672	1.1	0.35648	D	0.811536	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.16289	0.015;0.006;0.006	T	0.12630	-1.0540	10	0.16420	T	0.52	-4.8599	0.9181	0.01309	0.2789:0.3555:0.1305:0.2351	.	344;473;519	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	D	519;458;473;344	ENSP00000387911:E519D;ENSP00000345456:E458D;ENSP00000410525:E473D;ENSP00000444381:E344D	ENSP00000345456:E458D	E	-	3	2	PARN	14484109	0.994000	0.37717	0.992000	0.48379	0.990000	0.78478	0.212000	0.17497	0.172000	0.19760	0.467000	0.42956	GAG		0.418	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	
C16orf45	89927	broad.mit.edu	37	16	15661870	15661870	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:15661870C>A	ENST00000300006.4	+	3	620	c.261C>A	c.(259-261)atC>atA	p.I87I	C16orf45_ENST00000452191.2_Silent_p.I70I|C16orf45_ENST00000566490.1_Silent_p.I87I|C16orf45_ENST00000561692.1_Silent_p.I39I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	87								p.I87I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCAAGGACATCATGGACTTGA	0.547																																					p.I70I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210A	16						.						113.0	90.0	98.0					16																	15661870		2197	4300	6497	15569371	SO:0001819	synonymous_variant	89927	exon3			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.261C>A	16.37:g.15661870C>A		Somatic		Capture	Illumina HiSeq	Phase_I	15569371	NM_001142469	O00223|O75769|Q8IZ36|Q96H25	Silent	SNP	ENST00000300006.4	37	CCDS10561.1																																																																																				0.547	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201	
MYH11	4629	broad.mit.edu	37	16	15833968	15833968	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:15833968C>A	ENST00000300036.5	-	23	3046	c.2937G>T	c.(2935-2937)aaG>aaT	p.K979N	MYH11_ENST00000576790.2_Missense_Mutation_p.K979N|MYH11_ENST00000452625.2_Missense_Mutation_p.K986N|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	979					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K979N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTTTCTTGATCTTGGCCTCAG	0.507			T	CBFB	AML																																p.K986N			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2958T	16						.						164.0	144.0	151.0					16																	15833968		2197	4300	6497	15741469	SO:0001583	missense	4629	exon24			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2937G>T	16.37:g.15833968C>A	ENSP00000300036:p.Lys979Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15741469	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708064	0.68615	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	4.28	2.27	0.28462	.	0.247105	0.39475	N	0.001359	D	0.96131	0.8739	M	0.78285	2.405	0.58432	D	0.999997	D;D;D;D;D	0.69078	0.997;0.991;0.991;0.991;0.991	D;P;P;P;D	0.67382	0.951;0.881;0.881;0.881;0.938	D	0.95350	0.8446	10	0.87932	D	0	.	9.6071	0.39641	0.0:0.8231:0.0:0.1769	.	986;979;986;979;986	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	979;979;986;986;986	ENSP00000300036:K979N;ENSP00000345136:K979N;ENSP00000379616:K986N;ENSP00000407821:K986N	ENSP00000300036:K979N	K	-	3	2	MYH11	15741469	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.060000	0.41394	0.802000	0.34089	0.486000	0.48141	AAG		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15880564	15880564	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:15880564C>T	ENST00000300036.5	-	5	665	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	MYH11_ENST00000576790.2_Missense_Mutation_p.E186K|MYH11_ENST00000452625.2_Missense_Mutation_p.E186K|MYH11_ENST00000396324.3_Missense_Mutation_p.E186K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	186	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.E186K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGTGTTTTCGGTTTTCCCG	0.542			T	CBFB	AML																																p.E186K			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	16						.						155.0	122.0	133.0					16																	15880564		2197	4300	6497	15788065	SO:0001583	missense	4629	exon5			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.556G>A	16.37:g.15880564C>T	ENSP00000300036:p.Glu186Lys	Somatic		Capture	Illumina HiSeq	Phase_I	15788065	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	35	5.534393	0.96460	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.25	5.25	0.73442	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	H	0.98629	4.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;0.998	D;D;D;D;D	0.81914	0.995;0.925;0.925;0.925;0.925	D	0.96962	0.9702	10	0.35671	T	0.21	.	16.3472	0.83146	0.0:1.0:0.0:0.0	.	186;186;186;186;186	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	186	ENSP00000300036:E186K;ENSP00000345136:E186K;ENSP00000379616:E186K;ENSP00000407821:E186K	ENSP00000300036:E186K	E	-	1	0	MYH11	15788065	1.000000	0.71417	0.779000	0.31741	0.928000	0.56348	7.553000	0.82203	2.474000	0.83562	0.549000	0.68633	GAA		0.542	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MEIOB	254528	broad.mit.edu	37	16	1894875	1894875	+	Nonsense_Mutation	SNP	C	C	A	rs575464897		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:1894875C>A	ENST00000397344.3	-	10	1062	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	MEIOB_ENST00000325962.3_Nonsense_Mutation_p.E290*|MEIOB_ENST00000412554.2_Nonsense_Mutation_p.E290*|MEIOB_ENST00000452149.2_Nonsense_Mutation_p.E290*|MEIOB_ENST00000470044.1_Nonsense_Mutation_p.E83*|LA16c-429E7.1_ENST00000570247.1_RNA	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	290					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)	p.E46*(1)									TTTATGGATTCTTTGAAATAA	0.303																																					p.E290X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G868T	16						.						46.0	46.0	46.0					16																	1894875		2193	4285	6478	1834876	SO:0001587	stop_gained	254528	exon10			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.868G>T	16.37:g.1894875C>A	ENSP00000380504:p.Glu290*	Somatic		Capture	Illumina HiSeq	Phase_I	1834876	NM_152764	B1AK39|C9J0S1|Q96RY0	Nonsense_Mutation	SNP	ENST00000397344.3	37	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862527	0.71949	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	.	.	.	5.74	5.74	0.90152	.	0.381500	0.28748	N	0.014264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.5586	0.91093	0.0:1.0:0.0:0.0	.	.	.	.	X	290	.	ENSP00000314484:E290X	E	-	1	0	C16orf73	1834876	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	4.672000	0.61597	2.736000	0.93811	0.306000	0.20318	GAA		0.303	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764	
XYLT1	64131	broad.mit.edu	37	16	17353188	17353188	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:17353188C>A	ENST00000261381.6	-	3	654	c.570G>T	c.(568-570)aaG>aaT	p.K190N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	190					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.K190N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAAAAGCTCCTTCTGTCTAC	0.542																																					p.K190N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G570T	16						.						127.0	130.0	129.0					16																	17353188		2197	4300	6497	17260689	SO:0001583	missense	64131	exon3			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.570G>T	16.37:g.17353188C>A	ENSP00000261381:p.Lys190Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17260689	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476683	0.63737	.	.	ENSG00000103489	ENST00000261381	T	0.05996	3.36	5.43	4.47	0.54385	.	0.164261	0.56097	D	0.000037	T	0.07818	0.0196	L	0.54323	1.7	0.48236	D	0.999612	P	0.46064	0.872	B	0.40165	0.321	T	0.08827	-1.0703	10	0.72032	D	0.01	-33.258	8.8659	0.35286	0.0:0.8298:0.0:0.1702	.	190	Q86Y38	XYLT1_HUMAN	N	190	ENSP00000261381:K190N	ENSP00000261381:K190N	K	-	3	2	XYLT1	17260689	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	1.307000	0.33516	1.264000	0.44198	0.655000	0.94253	AAG		0.542	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
SMG1	23049	broad.mit.edu	37	16	18908161	18908161	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:18908161C>T	ENST00000446231.2	-	2	622	c.210G>A	c.(208-210)agG>agA	p.R70R	SMG1_ENST00000565224.1_Silent_p.R44R|SMG1_ENST00000389467.3_Silent_p.R70R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	70	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R66R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TATCATCGTGCCTTTGCCGAG	0.413																																					p.R70R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G210A	16						.						12.0	12.0	12.0					16																	18908161		1802	3984	5786	18815662	SO:0001819	synonymous_variant	23049	exon2			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.210G>A	16.37:g.18908161C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18815662	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	G	A	rs140222432		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:20335551G>A	ENST00000381362.4	-	3	198	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.S41L	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	41					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S41L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532																																					p.S41L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C122T	16						.	G	LEU/SER,,,LEU/SER	0,4406		0,0,2203	44.0	42.0	42.0		122,,,122	2.8	0.0	16	dbSNP_134	42	3,8597	3.0+/-9.4	0,3,4297	no	missense,intron,intron,missense	GP2	NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2	145,,,145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,,,possibly-damaging	41/538,,,41/535	20335551	3,13003	2203	4300	6503	20243052	SO:0001583	missense	2813	exon3			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.122C>T	16.37:g.20335551G>A	ENSP00000370767:p.Ser41Leu	Somatic		Capture	Illumina HiSeq	Phase_I	20243052	NM_001502	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.892197	0.33442	0.0	3.49E-4	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99382	-5.8;-5.8	4.78	2.83	0.33086	.	.	.	.	.	D	0.98027	0.9350	L	0.60455	1.87	0.09310	N	0.999995	D;D	0.63046	0.992;0.986	P;B	0.47626	0.552;0.349	D	0.95211	0.8325	9	0.72032	D	0.01	-8.6441	4.2191	0.10549	0.1891:0.0:0.6293:0.1816	.	41;41	P55259-3;P55259	.;GP2_HUMAN	L	41	ENSP00000304044:S41L;ENSP00000370767:S41L	ENSP00000304044:S41L	S	-	2	0	GP2	20243052	0.004000	0.15560	0.016000	0.15963	0.014000	0.08584	0.466000	0.22019	0.626000	0.30322	0.651000	0.88453	TCG		0.532	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
PDILT	204474	broad.mit.edu	37	16	20380898	20380898	+	Silent	SNP	G	G	A	rs150342728		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:20380898G>A	ENST00000302451.4	-	8	1280	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	344					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.D344D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTACCTGGCGTCAGAGCTCA	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20018	0.0		0.0	False		,,,				2504	0.0				p.D344D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	16						.	G		4,4402	8.1+/-20.4	0,4,2199	195.0	190.0	191.0		1032	-3.7	0.0	16	dbSNP_134	191	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous	PDILT	NM_174924.1		0,13,6490	AA,AG,GG		0.1047,0.0908,0.1		344/585	20380898	13,12993	2203	4300	6503	20288399	SO:0001819	synonymous_variant	204474	exon8				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1032C>T	16.37:g.20380898G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20288399	NM_174924	Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																				0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ERI2	112479	broad.mit.edu	37	16	20818343	20818343	+	5'Flank	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:20818343A>C	ENST00000357967.4	-	0	0				ERI2_ENST00000389345.5_5'Flank|ERI2_ENST00000569729.1_5'Flank|AC004381.6_ENST00000567297.1_3'UTR|ERI2_ENST00000300005.3_5'Flank|AC004381.6_ENST00000564274.1_Missense_Mutation_p.N23T|AC004381.6_ENST00000348433.6_Missense_Mutation_p.N23T|ERI2_ENST00000568251.1_5'Flank|AC004381.6_ENST00000261377.6_Missense_Mutation_p.N23T|ERI2_ENST00000563117.1_5'Flank|ERI2_ENST00000564349.1_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2								exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N23T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CAGGCCCCAAATAAGCTGGTC	0.627											OREG0023666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N23T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A68C	16						.						72.0	54.0	60.0					16																	20818343		2197	4297	6494	20725844	SO:0001631	upstream_gene_variant	81691	exon2			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557		16.37:g.20818343A>C	Exception_encountered	Somatic	743	Capture	Illumina HiSeq	Phase_I	20725844	NM_001199053	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968787	0.34754	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33865	1.39;1.79	3.98	-2.25	0.06888	.	0.786555	0.11500	N	0.557836	T	0.29288	0.0729	L	0.46157	1.445	0.09310	N	1	P;B	0.36633	0.562;0.049	B;B	0.41036	0.346;0.026	T	0.25398	-1.0133	10	0.51188	T	0.08	-2.3948	4.2166	0.10537	0.4231:0.0:0.4049:0.172	.	23;23	Q96IC2-2;Q96IC2	.;REXON_HUMAN	T	23	ENSP00000261378:N23T;ENSP00000261377:N23T	ENSP00000261377:N23T	N	+	2	0	AC004381.6	20725844	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.696000	0.05104	-0.516000	0.06470	-0.250000	0.11733	AAT		0.627	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663	
DNAH3	55567	broad.mit.edu	37	16	20974859	20974859	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:20974859G>T	ENST00000261383.3	-	53	10346	c.10347C>A	c.(10345-10347)atC>atA	p.I3449I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3449					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I3449I(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGAGTCATAGATCAGCTTCC	0.532																																					p.I3449I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C10347A	16						.						103.0	83.0	90.0					16																	20974859		2201	4300	6501	20882360	SO:0001819	synonymous_variant	55567	exon53			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10347C>A	16.37:g.20974859G>T		Somatic		Capture	Illumina HiSeq	Phase_I	20882360	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	20986719	20986719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:20986719C>A	ENST00000261383.3	-	51	8094	c.8095G>T	c.(8095-8097)Gaa>Taa	p.E2699*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2699	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E2699*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGTCAGTTCTCTTTGCATA	0.463																																					p.E2699X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G8095T	16						.						130.0	124.0	126.0					16																	20986719		2201	4300	6501	20894220	SO:0001587	stop_gained	55567	exon51			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8095G>T	16.37:g.20986719C>A	ENSP00000261383:p.Glu2699*	Somatic		Capture	Illumina HiSeq	Phase_I	20894220	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	48	14.887459	0.99814	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.4486	0.94859	0.0:1.0:0.0:0.0	.	.	.	.	X	2699	.	ENSP00000261383:E2699X	E	-	1	0	DNAH3	20894220	1.000000	0.71417	0.954000	0.39281	0.459000	0.32528	5.999000	0.70665	2.604000	0.88044	0.609000	0.83330	GAA		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21151886	21151886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:21151886C>A	ENST00000261383.3	-	5	666	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E223*|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	223	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E223*(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCTTCTTTTCTTTACTTTCC	0.483																																					p.E223X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G667T	16						.						265.0	217.0	233.0					16																	21151886		2201	4300	6501	21059387	SO:0001587	stop_gained	55567	exon5			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.667G>T	16.37:g.21151886C>A	ENSP00000261383:p.Glu223*	Somatic		Capture	Illumina HiSeq	Phase_I	21059387	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997595	0.35226	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.07	5.07	0.68467	.	0.067200	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.3961	0.87445	0.0:1.0:0.0:0.0	.	.	.	.	X	223;223;194	.	ENSP00000261383:E223X	E	-	1	0	DNAH3	21059387	0.998000	0.40836	0.170000	0.22879	0.038000	0.13279	3.637000	0.54324	2.627000	0.88993	0.655000	0.94253	GAA		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ZP2	7783	broad.mit.edu	37	16	21216873	21216873	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:21216873C>A	ENST00000574002.1	-	8	1043	c.561G>T	c.(559-561)gaG>gaT	p.E187D	ZP2_ENST00000574091.1_Missense_Mutation_p.E187D|ZP2_ENST00000219593.4_Missense_Mutation_p.E187D|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	187					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.E187D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CATCACCAACCTCAATGCTCC	0.493																																					p.E187D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G561T	16						.						156.0	146.0	149.0					16																	21216873		2199	4300	6499	21124374	SO:0001583	missense	7783	exon7			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.561G>T	16.37:g.21216873C>A	ENSP00000460971:p.Glu187Asp	Somatic		Capture	Illumina HiSeq	Phase_I	21124374	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072513	0.36566	.	.	ENSG00000103310	ENST00000219593	T	0.22134	1.97	5.32	-2.11	0.07187	.	1.484850	0.03653	N	0.241320	T	0.20088	0.0483	M	0.67953	2.075	0.09310	N	1	P;B;B	0.52316	0.952;0.394;0.212	B;B;B	0.40677	0.337;0.079;0.079	T	0.39354	-0.9618	10	0.19147	T	0.46	-0.8915	5.1197	0.14854	0.1687:0.2549:0.0:0.5765	.	187;187;187	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	D	187	ENSP00000219593:E187D	ENSP00000219593:E187D	E	-	3	2	ZP2	21124374	0.000000	0.05858	0.002000	0.10522	0.571000	0.35966	-0.930000	0.03972	-0.011000	0.14247	0.563000	0.77884	GAG		0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
ABCA3	21	broad.mit.edu	37	16	2358523	2358523	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:2358523G>T	ENST00000301732.5	-	11	1913	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	405					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L405I(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGGAGCAGAGCTTCTGGCTC	0.547																																					p.L405I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1213A	16						.						127.0	105.0	112.0					16																	2358523		2198	4300	6498	2298524	SO:0001583	missense	21	exon11			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1213C>A	16.37:g.2358523G>T	ENSP00000301732:p.Leu405Ile	Somatic		Capture	Illumina HiSeq	Phase_I	2298524	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453770	0.12283	.	.	ENSG00000167972	ENST00000301732	D	0.85013	-1.93	5.56	1.92	0.25849	.	.	.	.	.	T	0.71896	0.3394	N	0.25031	0.7	0.80722	D	1	B;B	0.31893	0.198;0.345	B;B	0.35114	0.085;0.196	T	0.59979	-0.7352	9	0.22706	T	0.39	.	4.9085	0.13811	0.081:0.1263:0.5346:0.258	.	405;405	A7MBM9;Q99758	.;ABCA3_HUMAN	I	405	ENSP00000301732:L405I	ENSP00000301732:L405I	L	-	1	0	ABCA3	2298524	1.000000	0.71417	0.622000	0.29159	0.050000	0.14768	4.640000	0.61368	0.643000	0.30638	0.585000	0.79938	CTC		0.547	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
POLR3E	55718	broad.mit.edu	37	16	22335914	22335914	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:22335914G>A	ENST00000299853.5	+	16	1386	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	POLR3E_ENST00000359210.4_Missense_Mutation_p.E407K|POLR3E_ENST00000564209.1_Missense_Mutation_p.E407K|POLR3E_ENST00000418581.2_Missense_Mutation_p.E371K	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	407					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.E407K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTATGATGGGGAGTTCATCAA	0.607																																					p.E407K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	16						.						167.0	169.0	169.0					16																	22335914		2197	4300	6497	22243415	SO:0001583	missense	55718	exon16			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1219G>A	16.37:g.22335914G>A	ENSP00000299853:p.Glu407Lys	Somatic		Capture	Illumina HiSeq	Phase_I	22243415	NM_018119	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496225	0.64186	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.46451	0.87;0.87;0.87	5.34	5.34	0.76211	.	0.138973	0.64402	D	0.000008	T	0.37433	0.1003	L	0.28400	0.85	0.58432	D	0.999999	P;B;B;B;B;P	0.38395	0.629;0.237;0.4;0.348;0.4;0.575	B;B;B;B;B;B	0.37731	0.257;0.174;0.174;0.157;0.174;0.234	T	0.36237	-0.9756	10	0.87932	D	0	-29.5676	19.0392	0.92991	0.0:0.0:1.0:0.0	.	351;371;407;407;407;407	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	K	407;407;371	ENSP00000299853:E407K;ENSP00000352140:E407K;ENSP00000399254:E371K	ENSP00000299853:E407K	E	+	1	0	POLR3E	22243415	1.000000	0.71417	0.988000	0.46212	0.196000	0.23810	7.472000	0.80996	2.485000	0.83878	0.455000	0.32223	GAG		0.607	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119	
USP31	57478	broad.mit.edu	37	16	23080649	23080649	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:23080649C>A	ENST00000219689.7	-	16	2776	c.2777G>T	c.(2776-2778)aGc>aTc	p.S926I	USP31_ENST00000567975.1_Missense_Mutation_p.S219I	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.S926I(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATGACTGTCGCTTGGTTCCTG	0.557																																					p.S926I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2777T	16						.						74.0	74.0	74.0					16																	23080649		2197	4300	6497	22988150	SO:0001583	missense	57478	exon16			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2777G>T	16.37:g.23080649C>A	ENSP00000219689:p.Ser926Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22988150	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	7.409	0.634250	0.14322	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08370	3.1	6.16	5.22	0.72569	.	0.820226	0.11056	N	0.604522	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B;B;B	0.25955	0.138;0.001;0.053	B;B;B	0.18561	0.013;0.001;0.022	T	0.40627	-0.9553	10	0.27785	T	0.31	-1.6749	9.3428	0.38089	0.1437:0.785:0.0:0.0713	.	229;926;219	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	I	926;229	ENSP00000219689:S926I	ENSP00000219689:S926I	S	-	2	0	USP31	22988150	0.001000	0.12720	0.003000	0.11579	0.768000	0.43524	1.074000	0.30703	1.626000	0.50381	0.650000	0.86243	AGC		0.557	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
ITFG3	83986	broad.mit.edu	37	16	304474	304474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:304474C>T	ENST00000399932.3	+	3	513	c.62C>T	c.(61-63)tCg>tTg	p.S21L	ITFG3_ENST00000301678.3_Missense_Mutation_p.S21L|ITFG3_ENST00000442458.2_Missense_Mutation_p.S21L|ITFG3_ENST00000450082.2_Missense_Mutation_p.S21L|ITFG3_ENST00000301679.2_Missense_Mutation_p.S21L|ITFG3_ENST00000600536.1_Missense_Mutation_p.S21L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	21						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S21L(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GAAAGAAAATCGCAGGAAAAT	0.498											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S21L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C62T	16						.						124.0	132.0	130.0					16																	304474		1842	4083	5925	244475	SO:0001583	missense	83986	exon3			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.62C>T	16.37:g.304474C>T	ENSP00000382814:p.Ser21Leu	Somatic	587	Capture	Illumina HiSeq	Phase_I	244475	NM_032039	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401427	0.42613	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000419173;ENST00000426695;ENST00000438220;ENST00000447499;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082;ENST00000420500;ENST00000417499	.	.	.	5.95	2.73	0.32206	.	1.334320	0.04726	N	0.420299	T	0.19565	0.0470	N	0.12471	0.22	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.04013	0.001;0.001	T	0.23976	-1.0173	9	0.08599	T	0.76	-0.4685	5.4898	0.16769	0.1624:0.6269:0.0:0.2107	.	21;21	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	L	21	.	ENSP00000301678:S21L	S	+	2	0	ITFG3	244475	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.261000	0.18442	0.278000	0.22164	0.563000	0.77884	TCG		0.498	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039	
ERN2	10595	broad.mit.edu	37	16	23717692	23717692	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:23717692C>T	ENST00000457008.2	-	7	586	c.548G>A	c.(547-549)cGc>cAc	p.R183H	ERN2_ENST00000256797.4_Missense_Mutation_p.R231H					endoplasmic reticulum to nucleus signaling 2									p.R231H(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGAGTAGCGGCGGTAGGTGGT	0.582																																					p.R231H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692A	16						.						36.0	34.0	35.0					16																	23717692		2195	4299	6494	23625193	SO:0001583	missense	10595	exon7			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.548G>A	16.37:g.23717692C>T	ENSP00000413812:p.Arg183His	Somatic		Capture	Illumina HiSeq	Phase_I	23625193	NM_033266		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	C	12.28	1.890170	0.33348	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.57107	0.42;0.42	5.56	4.61	0.57282	Quinonprotein alcohol dehydrogenase-like (2);	0.107170	0.64402	D	0.000012	T	0.32852	0.0843	N	0.25647	0.755	0.27762	N	0.943782	B;B;B	0.23490	0.016;0.086;0.022	B;B;B	0.11329	0.006;0.005;0.005	T	0.10268	-1.0637	10	0.15499	T	0.54	.	7.5414	0.27740	0.0:0.8231:0.0:0.1769	.	183;183;183	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	H	231;183	ENSP00000256797:R231H;ENSP00000413812:R183H	ENSP00000256797:R231H	R	-	2	0	ERN2	23625193	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.880000	0.39628	2.619000	0.88677	0.462000	0.41574	CGC		0.582	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
RBBP6	5930	broad.mit.edu	37	16	24583384	24583384	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:24583384A>C	ENST00000319715.4	+	18	5429	c.4997A>C	c.(4996-4998)aAa>aCa	p.K1666T	RBBP6_ENST00000348022.2_Missense_Mutation_p.K1632T|RBBP6_ENST00000381039.3_Missense_Mutation_p.K826T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1666					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1666T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGGACCTGAAAGATAAAATA	0.443																																					p.K1632T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4895C	16						.						61.0	69.0	66.0					16																	24583384		2197	4300	6497	24490885	SO:0001583	missense	5930	exon17				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4997A>C	16.37:g.24583384A>C	ENSP00000317872:p.Lys1666Thr	Somatic		Capture	Illumina HiSeq	Phase_I	24490885	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086552	0.36855	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.23754	1.89;2.19;2.18	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.37100	0.0991	L	0.29908	0.895	0.37997	D	0.934109	D;D;D	0.69078	0.997;0.997;0.995	P;P;P	0.59948	0.866;0.866;0.738	T	0.33854	-0.9852	10	0.72032	D	0.01	-19.359	16.3951	0.83601	1.0:0.0:0.0:0.0	.	826;1632;1666	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	T	826;1666;1632	ENSP00000370427:K826T;ENSP00000317872:K1666T;ENSP00000316291:K1632T	ENSP00000317872:K1666T	K	+	2	0	RBBP6	24490885	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	4.533000	0.60615	2.272000	0.75746	0.460000	0.39030	AAA		0.443	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
ZKSCAN2	342357	broad.mit.edu	37	16	25258304	25258304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:25258304G>A	ENST00000328086.7	-	5	2016	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	405					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R405*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCACCTTTCGATAGCTTTTC	0.502																																					p.R405X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1213T	16						.						172.0	151.0	158.0					16																	25258304		2197	4300	6497	25165805	SO:0001587	stop_gained	342357	exon5			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1213C>T	16.37:g.25258304G>A	ENSP00000331626:p.Arg405*	Somatic		Capture	Illumina HiSeq	Phase_I	25165805	NM_001012981	A1L3B4|Q6ZN77	Nonsense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	45	11.665746	0.99589	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	.	.	.	5.76	5.76	0.90799	.	0.000000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3216	15.8146	0.78589	0.0:0.0:1.0:0.0	.	.	.	.	X	405	.	ENSP00000331626:R405X	R	-	1	2	ZKSCAN2	25165805	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	4.489000	0.60309	2.882000	0.98803	0.655000	0.94253	CGA		0.502	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
KIAA0556	23247	broad.mit.edu	37	16	27765555	27765555	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:27765555G>A	ENST00000261588.4	+	18	3633	c.3614G>A	c.(3613-3615)gGc>gAc	p.G1205D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1205						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1205D(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCAGAGCCAGGCATCTACCAC	0.597																																					p.G1205D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3614A	16						.						111.0	97.0	101.0					16																	27765555		2197	4300	6497	27673056	SO:0001583	missense	23247	exon18			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3614G>A	16.37:g.27765555G>A	ENSP00000261588:p.Gly1205Asp	Somatic		Capture	Illumina HiSeq	Phase_I	27673056	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946792	0.73672	.	.	ENSG00000047578	ENST00000261588	T	0.10860	2.83	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.82323	2.585	0.45791	D	0.998673	P	0.49783	0.928	P	0.56088	0.791	T	0.03060	-1.1077	10	0.44086	T	0.13	-16.6282	14.5447	0.68020	0.0:0.0:1.0:0.0	.	1205	O60303	K0556_HUMAN	D	1205	ENSP00000261588:G1205D	ENSP00000261588:G1205D	G	+	2	0	KIAA0556	27673056	0.992000	0.36948	0.958000	0.39756	0.985000	0.73830	4.314000	0.59166	2.458000	0.83093	0.655000	0.94253	GGC		0.597	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
DOC2A	8448	broad.mit.edu	37	16	30018616	30018616	+	Missense_Mutation	SNP	C	C	T	rs371808877		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:30018616C>T	ENST00000350119.4	-	6	722	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	DOC2A_ENST00000564944.1_Missense_Mutation_p.A178T|DOC2A_ENST00000564979.1_Missense_Mutation_p.A178T	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.A178T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TCACAGACGGCGATCCTGGTC	0.592																																					p.A178T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G532A	16						.	C	THR/ALA	0,4394		0,0,2197	53.0	49.0	51.0		532	1.6	0.9	16		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOC2A	NM_003586.2	58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	178/401	30018616	1,12993	2197	4300	6497	29926117	SO:0001583	missense	8448	exon6			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.532G>A	16.37:g.30018616C>T	ENSP00000340017:p.Ala178Thr	Somatic		Capture	Illumina HiSeq	Phase_I	29926117	NM_003586	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	37	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136782	0.37728	0.0	1.16E-4	ENSG00000149927	ENST00000350119	T	0.68025	-0.3	5.34	1.63	0.23807	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.409619	0.20927	N	0.083178	T	0.31670	0.0804	N	0.01188	-0.97	0.33697	D	0.614074	B	0.12013	0.005	B	0.12837	0.008	T	0.18178	-1.0345	10	0.26408	T	0.33	.	6.3686	0.21469	0.5457:0.3031:0.0:0.1512	.	178	Q14183	DOC2A_HUMAN	T	178	ENSP00000340017:A178T	ENSP00000340017:A178T	A	-	1	0	DOC2A	29926117	1.000000	0.71417	0.908000	0.35775	0.126000	0.20510	3.761000	0.55242	0.331000	0.23511	-0.367000	0.07326	GCC		0.592	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586	
SEPHS2	22928	broad.mit.edu	37	16	30455787	30455787	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:30455787C>T	ENST00000478753.2	-	1	1715	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	SEPHS2_ENST00000542752.1_Missense_Mutation_p.R364Q|SEPHS2_ENST00000500504.2_Missense_Mutation_p.R421Q			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	421					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.R421Q(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCAATAACTCGCGGCTTGTC	0.522																																					p.R421Q	Esophageal Squamous(81;1142 1261 11202 24614 35697)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262A	16						.						69.0	74.0	72.0					16																	30455787		2012	4170	6182	30363288	SO:0001583	missense	22928	exon1			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1262G>A	16.37:g.30455787C>T	ENSP00000418669:p.Arg421Gln	Somatic		Capture	Illumina HiSeq	Phase_I	30363288	NM_012248	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	C	13.50	2.256792	0.39896	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.50277	0.75;0.84;0.78	5.28	3.34	0.38264	AIR synthase-related protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	N	0.08118	0	0.80722	D	1	P;B	0.39071	0.658;0.158	B;B	0.23716	0.048;0.011	T	0.07712	-1.0758	10	0.52906	T	0.07	-6.2632	10.0974	0.42484	0.0:0.8377:0.0:0.1623	.	421;364	Q99611;F5H8F9	SPS2_HUMAN;.	Q	421;364;372;421	ENSP00000418669:R421Q;ENSP00000443601:R364Q;ENSP00000426234:R421Q	ENSP00000390233:R372Q	R	-	2	0	SEPHS2	30363288	1.000000	0.71417	0.994000	0.49952	0.561000	0.35649	7.745000	0.85046	0.750000	0.32877	-0.768000	0.03414	CGA		0.522	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248	
ITGAL	3683	broad.mit.edu	37	16	30500671	30500671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:30500671G>T	ENST00000356798.6	+	11	1357	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.E310*|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	393					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.E393*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TATTGGGAATGAACCATTGAC	0.542																																					p.E310X	NSCLC(110;1462 1641 3311 33990 49495)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G928T	16						.						143.0	132.0	136.0					16																	30500671		2197	4300	6497	30408172	SO:0001587	stop_gained	3683	exon9				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1177G>T	16.37:g.30500671G>T	ENSP00000349252:p.Glu393*	Somatic		Capture	Illumina HiSeq	Phase_I	30408172	NM_001114380	O43746|Q45H73|Q96HB1|Q9UBC8	Nonsense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039324	0.75617	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	.	.	.	5.39	0.946	0.19549	.	0.647609	0.14297	N	0.328548	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	5.939	0.19181	0.1861:0.4097:0.4042:0.0	.	.	.	.	X	393;310	.	ENSP00000349252:E393X	E	+	1	0	ITGAL	30408172	0.000000	0.05858	0.053000	0.19242	0.002000	0.02628	0.403000	0.20982	0.662000	0.31006	-0.844000	0.03045	GAA		0.542	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ITGAM	3684	broad.mit.edu	37	16	31340591	31340591	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:31340591G>T	ENST00000287497.8	+	24	2910	c.2835G>T	c.(2833-2835)gaG>gaT	p.E945D	ITGAM_ENST00000544665.3_Missense_Mutation_p.E946D			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	945					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.E945D(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGCCTCAGAGAATACCAGTC	0.532																																					p.E945D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2835T	16						.						70.0	69.0	69.0					16																	31340591		1953	4154	6107	31248092	SO:0001583	missense	3684	exon24			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2835G>T	16.37:g.31340591G>T	ENSP00000287497:p.Glu945Asp	Somatic		Capture	Illumina HiSeq	Phase_I	31248092	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553334	0.45487	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.44083	0.93;0.93	4.96	3.99	0.46301	Integrin alpha-2 (1);	.	.	.	.	T	0.51534	0.1680	M	0.66439	2.03	0.27708	N	0.945564	P;P	0.43885	0.82;0.82	P;P	0.51297	0.665;0.665	T	0.40534	-0.9558	9	0.30854	T	0.27	.	10.9849	0.47516	0.0:0.1886:0.8114:0.0	.	945;945	Q4VAK1;P11215	.;ITAM_HUMAN	D	946;945	ENSP00000441691:E946D;ENSP00000287497:E945D	ENSP00000287497:E945D	E	+	3	2	ITGAM	31248092	0.902000	0.30710	0.844000	0.33320	0.163000	0.22366	0.610000	0.24253	1.267000	0.44247	0.650000	0.86243	GAG		0.532	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ITGAD	3681	broad.mit.edu	37	16	31422797	31422797	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:31422797C>A	ENST00000389202.2	+	14	1715	c.1666C>A	c.(1666-1668)Cac>Aac	p.H556N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	556					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.H556N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTACCTGTTTCACGGAGCCTC	0.597																																					p.H556N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1666A	16						.						92.0	91.0	91.0					16																	31422797		2197	4300	6497	31330298	SO:0001583	missense	3681	exon14			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1666C>A	16.37:g.31422797C>A	ENSP00000373854:p.His556Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31330298	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027239	0.54683	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.06687	3.27	4.49	4.49	0.54785	.	.	.	.	.	T	0.07728	0.0194	N	0.16656	0.425	0.44234	D	0.997076	P;P	0.41978	0.767;0.767	P;P	0.45138	0.471;0.471	T	0.46317	-0.9200	9	0.29301	T	0.29	.	12.6781	0.56906	0.0:1.0:0.0:0.0	.	572;556	Q59H14;Q13349	.;ITAD_HUMAN	N	572;556	ENSP00000373854:H556N	ENSP00000373854:H556N	H	+	1	0	ITGAD	31330298	0.986000	0.35501	0.993000	0.49108	0.528000	0.34623	3.520000	0.53465	2.022000	0.59522	0.407000	0.27541	CAC		0.597	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
ARMC5	79798	broad.mit.edu	37	16	31473312	31473312	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:31473312C>T	ENST00000563544.1	+	3	1091	c.545C>T	c.(544-546)gCc>gTc	p.A182V	ARMC5_ENST00000408912.3_Missense_Mutation_p.A277V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A182V|ARMC5_ENST00000412665.2_Missense_Mutation_p.A18V|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Missense_Mutation_p.A214V|ARMC5_ENST00000457010.2_Missense_Mutation_p.A182V			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	182								p.A277V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGAACTTAGCCATGGAACCT	0.562																																					p.A182V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C545T	16						.						149.0	157.0	154.0					16																	31473312		2084	4205	6289	31380813	SO:0001583	missense	79798	exon2			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.545C>T	16.37:g.31473312C>T	ENSP00000456877:p.Ala182Val	Somatic		Capture	Illumina HiSeq	Phase_I	31380813	NM_001105247	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632909	0.87660	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.53857	0.64;0.64;0.64;0.64;0.6	4.15	4.15	0.48705	Armadillo-like helical (1);Armadillo-type fold (1);	0.061963	0.64402	D	0.000006	T	0.70193	0.3196	M	0.71206	2.165	0.32713	N	0.511355	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.994	T	0.78999	-0.1982	10	0.87932	D	0	-21.5616	14.0017	0.64437	0.0:1.0:0.0:0.0	.	214;214;277;182;182	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	V	277;214;182;182;18	ENSP00000386125:A277V;ENSP00000443995:A214V;ENSP00000268314:A182V;ENSP00000399561:A182V;ENSP00000400183:A18V	ENSP00000268314:A182V	A	+	2	0	ARMC5	31380813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	2.168000	0.68352	0.556000	0.70494	GCC		0.562	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
OR1F1	4992	broad.mit.edu	37	16	3254832	3254832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:3254832G>T	ENST00000304646.2	+	1	586	c.586G>T	c.(586-588)Gag>Tag	p.E196*	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	196					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E196*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACACCTCAATGAGGTCATAAT	0.502																																					p.E196X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G586T	16						.						146.0	130.0	135.0					16																	3254832		2197	4300	6497	3194833	SO:0001587	stop_gained	4992	exon1			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.586G>T	16.37:g.3254832G>T	ENSP00000305424:p.Glu196*	Somatic		Capture	Illumina HiSeq	Phase_I	3194833	NM_012360	O15246|Q6IFL5	Nonsense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365854	0.24684	.	.	ENSG00000168124	ENST00000304646	.	.	.	5.16	3.11	0.35812	.	0.213706	0.32416	N	0.006136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.2206	0.59885	0.0:0.3064:0.6936:0.0	.	.	.	.	X	196	.	ENSP00000305424:E196X	E	+	1	0	OR1F1	3194833	0.001000	0.12720	0.003000	0.11579	0.109000	0.19521	0.749000	0.26320	0.495000	0.27882	0.393000	0.25936	GAG		0.502	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1		
MEFV	4210	broad.mit.edu	37	16	3304656	3304656	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:3304656C>T	ENST00000219596.1	-	2	451	c.412G>A	c.(412-414)Gga>Aga	p.G138R	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	138			G -> A (association with renal amyloidosis). {ECO:0000269|PubMed:11139244}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.G138R(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTGGCAGCTCCGCCCCCGTAC	0.716																																					p.G138R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G412A	16						.						14.0	15.0	15.0					16																	3304656		2157	4226	6383	3244657	SO:0001583	missense	4210	exon2			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.412G>A	16.37:g.3304656C>T	ENSP00000219596:p.Gly138Arg	Somatic		Capture	Illumina HiSeq	Phase_I	3244657	NM_000243	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	6.265	0.417015	0.11870	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.69806	-0.43	4.39	-0.796	0.10912	.	0.866932	0.09837	N	0.749410	T	0.44871	0.1314	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.23726	-1.0180	10	0.41790	T	0.15	-1.2172	5.1548	0.15029	0.1394:0.5243:0.0:0.3363	.	138	O15553	MEFV_HUMAN	R	138	ENSP00000219596:G138R	ENSP00000219596:G138R	G	-	1	0	MEFV	3244657	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.184000	0.09698	-0.321000	0.08627	-1.357000	0.01221	GGA		0.716	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
ZSCAN32	54925	broad.mit.edu	37	16	3432863	3432863	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:3432863C>A	ENST00000396852.4	-	7	2390	c.2083G>T	c.(2083-2085)Gat>Tat	p.D695Y	ZSCAN32_ENST00000396846.3_Missense_Mutation_p.D695Y|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.D483Y|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.D406Y	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	695					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D483Y(1)									CATAACGCATCTCTTCCTTCC	0.478																																					p.D483Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1447T	16						.						188.0	174.0	179.0					16																	3432863		2197	4300	6497	3372864	SO:0001583	missense	54925	exon6			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.2083G>T	16.37:g.3432863C>A	ENSP00000380061:p.Asp695Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3372864	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	C	7.018	0.558073	0.13436	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.09911	2.93;3.04;3.04;2.98	2.14	-0.0761	0.13724	.	.	.	.	.	T	0.06188	0.0160	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.06405	0.002;0.001	T	0.36696	-0.9737	9	0.49607	T	0.09	.	4.1603	0.10280	0.2525:0.455:0.2925:0.0	.	483;695	Q9NX65;Q6WMU8	ZN434_HUMAN;.	Y	483;695;695;406	ENSP00000302502:D483Y;ENSP00000380061:D695Y;ENSP00000380057:D695Y;ENSP00000391787:D406Y	ENSP00000302502:D483Y	D	-	1	0	ZNF434	3372864	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.710000	0.05024	0.018000	0.15052	0.655000	0.94253	GAT		0.478	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810	
ZNF597	146434	broad.mit.edu	37	16	3486862	3486862	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:3486862C>T	ENST00000301744.4	-	4	1072	c.837G>A	c.(835-837)gaG>gaA	p.E279E		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	279					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.E279E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GATTTGGTTTCTCATTAAAAT	0.453																																					p.E279E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	16						.						115.0	113.0	114.0					16																	3486862		2197	4300	6497	3426863	SO:0001819	synonymous_variant	146434	exon4			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.837G>A	16.37:g.3486862C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3426863	NM_152457		Silent	SNP	ENST00000301744.4	37	CCDS10505.1																																																																																				0.453	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457	
CLUAP1	23059	broad.mit.edu	37	16	3569987	3569987	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:3569987T>G	ENST00000576634.1	+	7	808	c.664T>G	c.(664-666)Tta>Gta	p.L222V	CLUAP1_ENST00000571025.1_Missense_Mutation_p.L222V|CLUAP1_ENST00000417763.2_Missense_Mutation_p.L56V|CLUAP1_ENST00000341633.5_Missense_Mutation_p.L222V|CLUAP1_ENST00000445795.2_De_novo_Start_OutOfFrame|CLUAP1_ENST00000572600.1_Missense_Mutation_p.L56V	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	222					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.L222V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AAAGAGAAAATTAGAACTGGA	0.388																																					p.L56V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T166G	16						.						97.0	99.0	98.0					16																	3569987		2197	4300	6497	3509988	SO:0001583	missense	23059	exon3			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.664T>G	16.37:g.3569987T>G	ENSP00000460850:p.Leu222Val	Somatic		Capture	Illumina HiSeq	Phase_I	3509988	NM_024793	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443845	0.25987	.	.	ENSG00000103351	ENST00000341633;ENST00000417763	T;T	0.41758	0.99;0.99	5.24	2.86	0.33363	.	0.218569	0.39615	N	0.001313	T	0.23766	0.0575	N	0.17082	0.46	0.80722	D	1	B;B	0.24132	0.019;0.098	B;B	0.26310	0.031;0.068	T	0.04579	-1.0941	10	0.27785	T	0.31	-10.7909	6.6294	0.22849	0.0:0.3203:0.0:0.6797	.	56;222	Q96AJ1-2;Q96AJ1	.;CLUA1_HUMAN	V	222;56	ENSP00000344392:L222V;ENSP00000388642:L56V	ENSP00000344392:L222V	L	+	1	2	CLUAP1	3509988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.617000	0.36943	0.267000	0.21916	0.528000	0.53228	TTA		0.388	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
ADCY9	115	broad.mit.edu	37	16	4163814	4163814	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:4163814C>T	ENST00000294016.3	-	2	2168	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	544					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E544K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTCCATTTCGTACCGGTCA	0.532																																					p.E544K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1630A	16						.						127.0	119.0	122.0					16																	4163814		2197	4300	6497	4103815	SO:0001583	missense	115	exon2			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1630G>A	16.37:g.4163814C>T	ENSP00000294016:p.Glu544Lys	Somatic		Capture	Illumina HiSeq	Phase_I	4103815	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809171	0.31961	.	.	ENSG00000162104	ENST00000294016	D	0.81499	-1.5	5.19	5.19	0.71726	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.232436	0.37906	N	0.001895	T	0.71668	0.3367	L	0.43554	1.36	0.36295	D	0.856676	B	0.06786	0.001	B	0.06405	0.002	T	0.68375	-0.5425	10	0.10377	T	0.69	.	13.6882	0.62529	0.1544:0.8455:0.0:0.0	.	544	O60503	ADCY9_HUMAN	K	544	ENSP00000294016:E544K	ENSP00000294016:E544K	E	-	1	0	ADCY9	4103815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.134000	0.42102	2.438000	0.82558	0.555000	0.69702	GAA		0.532	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
HMOX2	3163	broad.mit.edu	37	16	4555576	4555576	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:4555576G>T	ENST00000570646.1	+	2	656	c.51G>T	c.(49-51)aaG>aaT	p.K17N	HMOX2_ENST00000398595.3_Missense_Mutation_p.K17N|HMOX2_ENST00000406590.2_Missense_Mutation_p.K17N|HMOX2_ENST00000575120.1_Intron|HMOX2_ENST00000219700.6_Missense_Mutation_p.K17N|HMOX2_ENST00000458134.3_Missense_Mutation_p.K17N|HMOX2_ENST00000414777.1_Missense_Mutation_p.K17N	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	17					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)	p.K17N(1)		endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CAGAAAAAAAGAACTCTGGGG	0.567																																					p.K17N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	16						.						78.0	73.0	75.0					16																	4555576		2197	4297	6494	4495577	SO:0001583	missense	3163	exon2				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.51G>T	16.37:g.4555576G>T	ENSP00000459214:p.Lys17Asn	Somatic		Capture	Illumina HiSeq	Phase_I	4495577	NM_002134	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	5.472	0.272217	0.10349	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.67	-0.397	0.12423	.	0.959677	0.08723	N	0.903174	T	0.12135	0.0295	N	0.12746	0.255	0.22842	N	0.998667	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35351	-0.9792	10	0.21014	T	0.42	-9.8086	6.058	0.19822	0.1848:0.4687:0.3465:0.0	.	17;17	B3KSE0;P30519	.;HMOX2_HUMAN	N	17	ENSP00000385100:K17N;ENSP00000394103:K17N;ENSP00000219700:K17N;ENSP00000391637:K17N;ENSP00000381595:K17N	ENSP00000219700:K17N	K	+	3	2	HMOX2	4495577	0.002000	0.14202	0.200000	0.23457	0.078000	0.17371	0.219000	0.17641	0.319000	0.23209	-0.243000	0.11985	AAG		0.567	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2		
ZNF267	10308	broad.mit.edu	37	16	31926190	31926190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:31926190G>A	ENST00000300870.10	+	4	829	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	207					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R207Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AATAGTTACCGAAATGTTTTT	0.299																																					p.R207Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G620A	16						.						32.0	35.0	34.0					16																	31926190		2197	4290	6487	31833691	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.620G>A	16.37:g.31926190G>A	ENSP00000300870:p.Arg207Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31833691	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.401684	0.01165	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.13538	2.58	0.458	-0.916	0.10489	.	.	.	.	.	T	0.03263	0.0095	N	0.02665	-0.54	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	9	0.02654	T	1	.	1.9746	0.03413	0.4802:0.0:0.2557:0.2641	.	207	Q14586	ZN267_HUMAN	Q	207;174	ENSP00000300870:R207Q	ENSP00000300870:R207Q	R	+	2	0	ZNF267	31833691	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.709000	0.25734	-1.476000	0.01874	-1.512000	0.00943	CGA		0.299	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
ABCC11	85320	broad.mit.edu	37	16	48234330	48234330	+	Missense_Mutation	SNP	C	C	T	rs200323911	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:48234330C>T	ENST00000394747.1	-	14	2288	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	ABCC11_ENST00000394748.1_Missense_Mutation_p.A647T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A647T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A647T|ABCC11_ENST00000537808.1_Missense_Mutation_p.A647T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	647	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.A647T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GAATAGACGGCGCGGGCCAGG	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		18036	0.005		0.0	False		,,,				2504	0.0				p.A647T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1939A	16						.						73.0	60.0	65.0					16																	48234330		2201	4300	6501	46791831	SO:0001583	missense	85320	exon15			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1939G>A	16.37:g.48234330C>T	ENSP00000378230:p.Ala647Thr	Somatic		Capture	Illumina HiSeq	Phase_I	46791831	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	18.82	3.704309	0.68615	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.7	4.73	0.59995	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94656	0.8277	M	0.75447	2.3	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.942;0.992	D	0.94371	0.7596	10	0.87932	D	0	-16.9203	12.8658	0.57937	0.0:0.9199:0.0:0.08	.	647;647	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	647	ENSP00000311326:A647T;ENSP00000349017:A647T;ENSP00000378231:A647T;ENSP00000378230:A647T;ENSP00000438530:A647T	ENSP00000311326:A647T	A	-	1	0	ABCC11	46791831	1.000000	0.71417	0.044000	0.18714	0.097000	0.18754	5.701000	0.68325	1.391000	0.46566	0.655000	0.94253	GCC		0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
C16orf71	146562	broad.mit.edu	37	16	4793054	4793054	+	Missense_Mutation	SNP	C	C	T	rs144417396		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:4793054C>T	ENST00000299320.5	+	5	1272	c.794C>T	c.(793-795)gCg>gTg	p.A265V	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.A279V	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	265								p.A265V(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAACTTGAAGCGTGGGATTTG	0.522																																					p.A265V												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C794T	16						.	C	VAL/ALA	0,4394		0,0,2197	175.0	161.0	165.0		794	2.7	0.9	16	dbSNP_134	165	4,8596	3.7+/-12.6	0,4,4296	yes	missense	C16orf71	NM_139170.2	64	0,4,6493	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging	265/521	4793054	4,12990	2197	4300	6497	4733055	SO:0001583	missense	146562	exon5			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.794C>T	16.37:g.4793054C>T	ENSP00000299320:p.Ala265Val	Somatic		Capture	Illumina HiSeq	Phase_I	4733055	NM_139170	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139663	0.37728	0.0	4.65E-4	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.12984	2.63	4.92	2.67	0.31697	.	0.598237	0.14104	N	0.341194	T	0.07369	0.0186	L	0.36672	1.1	0.22240	N	0.999267	P	0.51791	0.948	B	0.32624	0.149	T	0.31364	-0.9946	10	0.37606	T	0.19	-7.0884	4.6588	0.12632	0.6876:0.2079:0.1045:0.0	.	265	Q8IYS4	CP071_HUMAN	V	265;20	ENSP00000299320:A265V	ENSP00000299320:A265V	A	+	2	0	C16orf71	4733055	1.000000	0.71417	0.864000	0.33941	0.772000	0.43724	1.283000	0.33237	0.473000	0.27368	-0.280000	0.10049	GCG		0.522	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
N4BP1	9683	broad.mit.edu	37	16	48594764	48594764	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:48594764C>T	ENST00000262384.3	-	2	2026	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	597					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.R597Q(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAGAGTATCTCGAAACCTTTG	0.433																																					p.R597Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1790A	16						.						127.0	121.0	122.0					16																	48594764		1851	4088	5939	47152265	SO:0001583	missense	9683	exon2			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1790G>A	16.37:g.48594764C>T	ENSP00000262384:p.Arg597Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47152265	NM_153029	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534725	0.27475	.	.	ENSG00000102921	ENST00000262384	T	0.44482	0.92	5.93	5.93	0.95920	.	0.186444	0.48286	D	0.000182	T	0.19327	0.0464	N	0.12182	0.205	0.30255	N	0.793722	B	0.33612	0.419	B	0.17979	0.02	T	0.12243	-1.0555	10	0.22706	T	0.39	-6.7617	8.2668	0.31819	0.1965:0.7263:0.0:0.0772	.	597	O75113	N4BP1_HUMAN	Q	597	ENSP00000262384:R597Q	ENSP00000262384:R597Q	R	-	2	0	N4BP1	47152265	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.135000	0.50546	2.814000	0.96858	0.591000	0.81541	CGA		0.433	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	
SNX20	124460	broad.mit.edu	37	16	50707907	50707907	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:50707907C>T	ENST00000330943.4	-	4	532	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	121	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.A121T(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGGAGCTTCGCGAAGTCGGAA	0.552																																					p.A121T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	16						.						75.0	69.0	71.0					16																	50707907		2198	4300	6498	49265408	SO:0001583	missense	124460	exon4			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.361G>A	16.37:g.50707907C>T	ENSP00000332062:p.Ala121Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49265408	NM_182854	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235475	0.39498	.	.	ENSG00000167208	ENST00000330943	T	0.39056	1.1	5.53	4.57	0.56435	Phox homologous domain (5);	0.194498	0.46758	D	0.000277	T	0.29093	0.0723	L	0.28649	0.875	0.25839	N	0.984077	P	0.36535	0.557	B	0.28465	0.09	T	0.10064	-1.0646	10	0.36615	T	0.2	-23.0074	14.6838	0.69035	0.0:0.8552:0.1448:0.0	.	121	Q7Z614	SNX20_HUMAN	T	121	ENSP00000332062:A121T	ENSP00000332062:A121T	A	-	1	0	SNX20	49265408	1.000000	0.71417	0.777000	0.31699	0.177000	0.22998	3.451000	0.52964	1.319000	0.45190	0.561000	0.74099	GCG		0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337	
NOD2	64127	broad.mit.edu	37	16	50744943	50744943	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:50744943T>C	ENST00000300589.2	+	4	1226	c.1121T>C	c.(1120-1122)gTc>gCc	p.V374A	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	374	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.V374A(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTGACCGTGTCCTGTTAACC	0.537																																					p.V374A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1121C	16						.						96.0	81.0	86.0					16																	50744943		2198	4300	6498	49302444	SO:0001583	missense	64127	exon4			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1121T>C	16.37:g.50744943T>C	ENSP00000300589:p.Val374Ala	Somatic		Capture	Illumina HiSeq	Phase_I	49302444	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	T	8.651	0.898189	0.17686	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.80123	-1.34	5.58	4.46	0.54185	NACHT nucleoside triphosphatase (1);	0.729884	0.12651	N	0.450435	T	0.80308	0.4599	M	0.64676	1.99	0.34054	D	0.656526	P;P;P	0.45212	0.709;0.853;0.709	B;B;P	0.45099	0.349;0.423;0.469	T	0.80269	-0.1453	10	0.33940	T	0.23	.	10.8933	0.47008	0.0:0.0:0.1578:0.8421	.	158;347;374	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	A	347;374	ENSP00000300589:V374A	ENSP00000300589:V374A	V	+	2	0	NOD2	49302444	0.977000	0.34250	0.038000	0.18304	0.393000	0.30537	3.152000	0.50677	0.912000	0.36772	0.454000	0.30748	GTC		0.537	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
NOD2	64127	broad.mit.edu	37	16	50746018	50746018	+	Silent	SNP	C	C	T	rs6413461	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:50746018C>T	ENST00000300589.2	+	4	2301	c.2196C>T	c.(2194-2196)agC>agT	p.S732S	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	732					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.S732S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGGCCAAGAGCGTGCATGCCA	0.682																																					p.S732S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2196T	16						.						58.0	52.0	54.0					16																	50746018		2198	4300	6498	49303519	SO:0001819	synonymous_variant	64127	exon4			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2196C>T	16.37:g.50746018C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49303519	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	CCDS10746.1																																																																																				0.682	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
SALL1	6299	broad.mit.edu	37	16	51173179	51173179	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:51173179G>T	ENST00000251020.4	-	2	2987	c.2954C>A	c.(2953-2955)tCt>tAt	p.S985Y	SALL1_ENST00000440970.1_Missense_Mutation_p.S888Y|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	985					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S985Y(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATCCCCAAAGAATCTTCTTT	0.448																																					p.S985Y	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2954A	16						.						44.0	43.0	44.0					16																	51173179		2198	4300	6498	49730680	SO:0001583	missense	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2954C>A	16.37:g.51173179G>T	ENSP00000251020:p.Ser985Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	49730680	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381512	0.42207	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.80214	-1.35;-1.35	5.6	5.6	0.85130	.	0.160320	0.64402	D	0.000018	T	0.66607	0.2806	N	0.22421	0.69	0.43936	D	0.996597	P	0.41265	0.744	B	0.30943	0.122	T	0.72551	-0.4259	10	0.59425	D	0.04	.	14.451	0.67385	0.0:0.0:0.8528:0.1472	.	985	Q9NSC2	SALL1_HUMAN	Y	985;888;949	ENSP00000251020:S985Y;ENSP00000407914:S888Y	ENSP00000251020:S985Y	S	-	2	0	SALL1	49730680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.500000	0.81588	2.626000	0.88956	0.557000	0.71058	TCT		0.448	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SALL1	6299	broad.mit.edu	37	16	51173805	51173805	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:51173805C>T	ENST00000251020.4	-	2	2361	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	SALL1_ENST00000440970.1_Silent_p.T679T|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T776T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACAGCGTTCGTGAACTTCT	0.557																																					p.T776T	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2328A	16						.						90.0	93.0	92.0					16																	51173805		2198	4300	6498	49731306	SO:0001819	synonymous_variant	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2328G>A	16.37:g.51173805C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49731306	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SALL1	6299	broad.mit.edu	37	16	51173919	51173919	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:51173919G>T	ENST00000251020.4	-	2	2247	c.2214C>A	c.(2212-2214)atC>atA	p.I738I	SALL1_ENST00000440970.1_Silent_p.I641I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	738					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I738I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCGGCCACAGATCTTACACT	0.552																																					p.I738I	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2214A	16						.						56.0	58.0	57.0					16																	51173919		2198	4300	6498	49731420	SO:0001819	synonymous_variant	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2214C>A	16.37:g.51173919G>T		Somatic		Capture	Illumina HiSeq	Phase_I	49731420	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SALL1	6299	broad.mit.edu	37	16	51175914	51175914	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:51175914G>A	ENST00000251020.4	-	2	252	c.219C>T	c.(217-219)atC>atT	p.I73I	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	73					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I73I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTCATTTACGATTAAAACTA	0.448																																					p.I73I	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	16						.						79.0	86.0	84.0					16																	51175914		2198	4300	6498	49733415	SO:0001819	synonymous_variant	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.219C>T	16.37:g.51175914G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49733415	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.448	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CHD9	80205	broad.mit.edu	37	16	53261310	53261310	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:53261310G>A	ENST00000398510.3	+	5	2133	c.2046G>A	c.(2044-2046)gaG>gaA	p.E682E	CHD9_ENST00000566029.1_Silent_p.E682E|CHD9_ENST00000564845.1_Silent_p.E682E|CHD9_ENST00000447540.1_Silent_p.E682E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	682					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E682E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCCATAGGAGAATCCGAGTG	0.338																																					p.E682E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2046A	16						.						77.0	70.0	72.0					16																	53261310		1842	4086	5928	51818811	SO:0001819	synonymous_variant	80205	exon6			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2046G>A	16.37:g.53261310G>A		Somatic		Capture	Illumina HiSeq	Phase_I	51818811	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.338	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53331027	53331027	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:53331027C>A	ENST00000398510.3	+	29	5757	c.5670C>A	c.(5668-5670)ttC>ttA	p.F1890L	CHD9_ENST00000566029.1_Missense_Mutation_p.F1890L|CHD9_ENST00000564845.1_Missense_Mutation_p.F1890L|CHD9_ENST00000447540.1_Missense_Mutation_p.F1890L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1890					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F1890L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGTACGCATTCATGTCCATGT	0.368																																					p.F1890L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5670A	16						.						181.0	175.0	177.0					16																	53331027		1831	4096	5927	51888528	SO:0001583	missense	80205	exon30			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5670C>A	16.37:g.53331027C>A	ENSP00000381522:p.Phe1890Leu	Somatic		Capture	Illumina HiSeq	Phase_I	51888528	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.117907	0.77323	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.92397	-3.03;-3.03	5.19	0.466	0.16716	.	0.000000	0.56097	D	0.000023	D	0.95310	0.8478	M	0.88105	2.93	0.48087	D	0.999587	D;D;P;D	0.76494	0.993;0.999;0.956;0.974	D;D;D;D	0.87578	0.956;0.998;0.931;0.969	D	0.93253	0.6636	10	0.87932	D	0	-9.2668	7.06	0.25121	0.0:0.3142:0.0:0.6858	.	258;1890;1890;1890	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	1890;1890;258	ENSP00000396345:F1890L;ENSP00000381522:F1890L	ENSP00000381522:F1890L	F	+	3	2	CHD9	51888528	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.623000	0.24447	0.209000	0.20645	0.484000	0.47621	TTC		0.368	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53348739	53348739	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:53348739C>A	ENST00000398510.3	+	35	7454	c.7367C>A	c.(7366-7368)tCt>tAt	p.S2456Y	CHD9_ENST00000566029.1_Missense_Mutation_p.S2440Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2440Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S2441Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2456	Binds A/T-rich DNA.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S2457Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTACAGGTTTCTTTAGGCTTA	0.323																																					p.S2440Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7319A	16						.						89.0	82.0	84.0					16																	53348739		1792	4077	5869	51906240	SO:0001583	missense	80205	exon36			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7367C>A	16.37:g.53348739C>A	ENSP00000381522:p.Ser2456Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51906240	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	13.48	2.249725	0.39797	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86366	-2.11	5.33	4.37	0.52481	.	0.736229	0.11857	N	0.522762	D	0.86871	0.6037	N	0.22421	0.69	0.09310	N	1	D;B;D;D	0.61697	0.981;0.216;0.99;0.986	B;B;P;P	0.62382	0.355;0.081;0.854;0.901	T	0.76539	-0.2922	10	0.72032	D	0.01	-8.0E-4	8.7598	0.34667	0.3173:0.5456:0.1371:0.0	.	522;2441;2456;2440	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2441;2440;522	ENSP00000396345:S2441Y	ENSP00000381522:S2440Y	S	+	2	0	CHD9	51906240	0.135000	0.22499	0.035000	0.18076	0.375000	0.29983	1.390000	0.34464	1.217000	0.43442	0.655000	0.94253	TCT		0.323	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53358283	53358283	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:53358283C>A	ENST00000398510.3	+	38	8257	c.8170C>A	c.(8170-8172)Ctg>Atg	p.L2724M	CHD9_ENST00000566029.1_Missense_Mutation_p.L2708M|CHD9_ENST00000564845.1_Missense_Mutation_p.L2708M|CHD9_ENST00000447540.1_Missense_Mutation_p.L2709M			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2724					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L2725M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATTACCAAATCTGTTGGGCAT	0.493																																					p.L2708M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8122A	16						.						64.0	63.0	63.0					16																	53358283		1927	4141	6068	51915784	SO:0001583	missense	80205	exon39			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8170C>A	16.37:g.53358283C>A	ENSP00000381522:p.Leu2724Met	Somatic		Capture	Illumina HiSeq	Phase_I	51915784	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	0.534	-0.856394	0.02630	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86432	-2.12	5.47	4.5	0.54988	.	0.000000	0.43747	D	0.000527	D	0.85401	0.5688	N	0.17723	0.515	0.47183	D	0.999348	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.87578	0.997;0.998;0.986;0.998	T	0.79152	-0.1921	10	0.06625	T	0.88	-6.4111	12.4644	0.55749	0.0:0.8497:0.0:0.1503	.	790;2709;2724;2708	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	M	2709;2708;790	ENSP00000396345:L2709M	ENSP00000381522:L2708M	L	+	1	2	CHD9	51915784	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	0.500000	0.22562	2.729000	0.93468	0.655000	0.94253	CTG		0.493	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
RBL2	5934	broad.mit.edu	37	16	53495699	53495699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:53495699G>T	ENST00000262133.6	+	10	1530	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	RBL2_ENST00000544545.1_Nonsense_Mutation_p.E249*|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	465	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.E465*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGACTGAAAGAAATGTTTGA	0.348																																					p.E465X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1393T	16						.						129.0	123.0	125.0					16																	53495699		2198	4299	6497	52053200	SO:0001587	stop_gained	5934	exon10			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1393G>T	16.37:g.53495699G>T	ENSP00000262133:p.Glu465*	Somatic		Capture	Illumina HiSeq	Phase_I	52053200	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Nonsense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	40	8.335278	0.98764	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	.	.	.	6.07	6.07	0.98685	.	0.098187	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-21.9609	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	465;391;175;249	.	ENSP00000262133:E465X	E	+	1	0	RBL2	52053200	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.810000	0.91950	2.885000	0.99019	0.655000	0.94253	GAA		0.348	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
LPCAT2	54947	broad.mit.edu	37	16	55565846	55565846	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:55565846T>C	ENST00000262134.5	+	5	847	c.663T>C	c.(661-663)ggT>ggC	p.G221G		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	221					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.G221G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCCCAGAAGGTACTTGTACTA	0.274																																					p.G221G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T663C	16						.						67.0	77.0	74.0					16																	55565846		2194	4282	6476	54123347	SO:0001819	synonymous_variant	54947	exon5			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.663T>C	16.37:g.55565846T>C		Somatic		Capture	Illumina HiSeq	Phase_I	54123347	NM_017839	A3KBM1|Q6MZJ6|Q9NX23	Silent	SNP	ENST00000262134.5	37	CCDS10753.1																																																																																				0.274	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	
CES5A	221223	broad.mit.edu	37	16	55880571	55880571	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:55880571G>T	ENST00000290567.9	-	13	1641	c.1520C>A	c.(1519-1521)tCt>tAt	p.S507Y	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.S457Y|CES5A_ENST00000518005.1_Missense_Mutation_p.S401Y|CES5A_ENST00000520435.1_Missense_Mutation_p.S477Y|CES5A_ENST00000521992.1_Missense_Mutation_p.S536Y	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	507						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.S536Y(1)|p.S457Y(1)|p.S457F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGCCACAGAGACAGGTCGTT	0.547																																					p.S507Y												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.C1520A	16						.						172.0	174.0	173.0					16																	55880571		2198	4300	6498	54438072	SO:0001583	missense	221223	exon13			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1520C>A	16.37:g.55880571G>T	ENSP00000290567:p.Ser507Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54438072	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.398493	0.25205	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14	5.51	4.34	0.51931	Carboxylesterase, type B (1);	0.161766	0.29660	N	0.011523	T	0.06005	0.0156	L	0.31664	0.95	0.22562	N	0.998982	B;P	0.39282	0.137;0.666	B;B	0.36608	0.057;0.229	T	0.29212	-1.0019	10	0.72032	D	0.01	.	5.7829	0.18316	0.2254:0.0:0.7746:0.0	.	507;457	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	Y	536;457;401;507;477;287	ENSP00000428864:S536Y;ENSP00000324271:S457Y;ENSP00000428571:S401Y;ENSP00000290567:S507Y;ENSP00000428887:S477Y	ENSP00000290567:S507Y	S	-	2	0	CES5A	54438072	0.977000	0.34250	0.847000	0.33407	0.073000	0.16967	2.197000	0.42696	2.741000	0.93983	0.655000	0.94253	TCT		0.547	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
CES5A	221223	broad.mit.edu	37	16	55897347	55897347	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:55897347G>T	ENST00000290567.9	-	6	844	c.723C>A	c.(721-723)gcC>gcA	p.A241A	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.A241A|CES5A_ENST00000518005.1_Silent_p.A135A|CES5A_ENST00000520435.1_Silent_p.A211A|CES5A_ENST00000521992.1_Silent_p.A270A	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	241						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.A270A(1)|p.A241A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATAAGCCTTTGGCCATGGGAG	0.493																																					p.A241A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C723A	16						.						136.0	110.0	119.0					16																	55897347		2198	4300	6498	54454848	SO:0001819	synonymous_variant	221223	exon6			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.723C>A	16.37:g.55897347G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54454848	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																				0.493	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
MT3	4504	broad.mit.edu	37	16	56624773	56624773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:56624773C>T	ENST00000200691.4	+	3	342	c.119C>T	c.(118-120)gCg>gTg	p.A40V	MT3_ENST00000566576.1_3'UTR|MT3_ENST00000561640.1_Missense_Mutation_p.A85V|MT3_ENST00000565838.1_Missense_Mutation_p.A53V	NM_005954.2	NP_005945.1	P25713	MT3_HUMAN	metallothionein 3	40	Alpha.				activation of protein kinase B activity (GO:0032148)|astrocyte development (GO:0014002)|cadmium ion homeostasis (GO:0055073)|cell proliferation (GO:0008283)|cellular lipid catabolic process (GO:0044242)|cellular metal ion homeostasis (GO:0006875)|cellular response to cadmium ion (GO:0071276)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular zinc ion homeostasis (GO:0006882)|cholesterol catabolic process (GO:0006707)|energy reserve metabolic process (GO:0006112)|ERK1 and ERK2 cascade (GO:0070371)|histone modification (GO:0016570)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of axon extension (GO:0030517)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of lysosomal membrane permeability (GO:0097214)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of oxygen metabolic process (GO:2000376)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of protein glycosylation (GO:0060049)|regulation of response to food (GO:0032095)|removal of superoxide radicals (GO:0019430)|response to hypoxia (GO:0001666)|zinc ion homeostasis (GO:0055069)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|inclusion body (GO:0016234)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	antioxidant activity (GO:0016209)|cadmium ion binding (GO:0046870)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|drug binding (GO:0008144)|protein kinase activator activity (GO:0030295)|zinc ion binding (GO:0008270)	p.A40V(1)		central_nervous_system(1)|large_intestine(1)	2						TGCTGCCCTGCGGAGTGTGAG	0.582																																					p.A40V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119T	16						.						80.0	53.0	62.0					16																	56624773		2198	4300	6498	55182274	SO:0001583	missense	4504	exon3			BC035624	CCDS10762.1	16q13	2008-02-05	2007-01-26		ENSG00000087250	ENSG00000087250		"""Metallothioneins"""	7408	protein-coding gene	gene with protein product		139255	"""metallothionein 3 (growth inhibitory factor (neurotrophic))"""			1631128	Standard	NM_005954		Approved	GIF	uc002ejf.3	P25713	OTTHUMG00000133282	ENST00000200691.4:c.119C>T	16.37:g.56624773C>T	ENSP00000200691:p.Ala40Val	Somatic		Capture	Illumina HiSeq	Phase_I	55182274	NM_005954	Q2V574	Missense_Mutation	SNP	ENST00000200691.4	37	CCDS10762.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513810	0.27123	.	.	ENSG00000087250	ENST00000200691	T	0.10573	2.86	5.04	1.88	0.25563	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.131392	0.52532	D	0.000075	T	0.06096	0.0158	.	.	.	0.09310	N	0.999997	B	0.15719	0.014	B	0.12837	0.008	T	0.35871	-0.9771	9	0.25751	T	0.34	-8.2878	5.8798	0.18848	0.338:0.5712:0.0:0.0907	.	40	P25713	MT3_HUMAN	V	40	ENSP00000200691:A40V	ENSP00000200691:A40V	A	+	2	0	MT3	55182274	0.050000	0.20438	0.067000	0.19924	0.980000	0.70556	1.249000	0.32839	0.671000	0.31185	0.591000	0.81541	GCG		0.582	MT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257062.2	NM_005954	
CNGB1	1258	broad.mit.edu	37	16	57994786	57994786	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:57994786C>A	ENST00000251102.8	-	8	552	c.492G>T	c.(490-492)caG>caT	p.Q164H	CNGB1_ENST00000564448.1_Missense_Mutation_p.Q164H|CNGB1_ENST00000311183.4_Missense_Mutation_p.Q164H	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	164					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.Q164H(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTTCCAGATTCTGCTCCAGCC	0.632																																					p.Q164H	Colon(156;1293 1853 16336 28962 38659)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G492T	16						.						26.0	34.0	31.0					16																	57994786		1990	4179	6169	56552287	SO:0001583	missense	1258	exon8			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.492G>T	16.37:g.57994786C>A	ENSP00000251102:p.Gln164His	Somatic		Capture	Illumina HiSeq	Phase_I	56552287	NM_001135639	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708749	0.15239	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.97016	-4.21;0.82	4.38	2.37	0.29283	.	.	.	.	.	D	0.92130	0.7505	L	0.39245	1.2	0.22961	N	0.998508	B;B	0.33807	0.426;0.003	B;B	0.31547	0.132;0.003	D	0.85665	0.1291	9	0.66056	D	0.02	.	6.0252	0.19650	0.0:0.6999:0.1934:0.1067	.	164;164	Q14028-3;Q14028	.;CNGB1_HUMAN	H	164	ENSP00000251102:Q164H;ENSP00000311670:Q164H	ENSP00000251102:Q164H	Q	-	3	2	CNGB1	56552287	0.998000	0.40836	0.885000	0.34714	0.032000	0.12392	0.353000	0.20130	0.390000	0.25115	0.655000	0.94253	CAG		0.632	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CNOT1	23019	broad.mit.edu	37	16	58566160	58566160	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:58566160T>G	ENST00000317147.5	-	41	6367	c.6035A>C	c.(6034-6036)aAt>aCt	p.N2012T	CNOT1_ENST00000569240.1_Missense_Mutation_p.N2007T|CNOT1_ENST00000245138.4_Missense_Mutation_p.N863T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2012					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.N2012T(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTCTGGAAATTAATGGTTTC	0.383																																					p.N2012T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6035C	16						.						88.0	81.0	84.0					16																	58566160		2198	4300	6498	57123661	SO:0001583	missense	23019	exon41			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6035A>C	16.37:g.58566160T>G	ENSP00000320949:p.Asn2012Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57123661	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432925	0.83776	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.49139	0.79	5.85	5.85	0.93711	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.78916	2.43	0.80722	D	1	P;P;P	0.51240	0.881;0.943;0.876	B;P;P	0.48921	0.344;0.593;0.595	T	0.57556	-0.7791	10	0.22109	T	0.4	.	16.2355	0.82371	0.0:0.0:0.0:1.0	.	863;2012;2007	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	2012;706;17;863;2007	ENSP00000320949:N2012T	ENSP00000245138:N863T	N	-	2	0	CNOT1	57123661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.238000	0.73509	0.533000	0.62120	AAT		0.383	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58614629	58614629	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:58614629C>A	ENST00000317147.5	-	12	1583	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E417D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E417D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	417					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.E417D(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACAGAAGATCTCTGGATTTA	0.378																																					p.E417D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1251T	16						.						100.0	94.0	96.0					16																	58614629		2198	4300	6498	57172130	SO:0001583	missense	23019	exon12			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1251G>T	16.37:g.58614629C>A	ENSP00000320949:p.Glu417Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57172130	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	3.013	-0.203423	0.06180	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.40225	1.04;1.07	5.5	1.15	0.20763	.	0.141792	0.64402	D	0.000007	T	0.10680	0.0261	N	0.00985	-1.075	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.07539	-1.0767	9	.	.	.	-0.005	2.5071	0.04647	0.1119:0.4841:0.1213:0.2827	.	417;417;417	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	D	417	ENSP00000320949:E417D;ENSP00000413113:E417D	.	E	-	3	2	CNOT1	57172130	0.075000	0.21258	0.998000	0.56505	0.994000	0.84299	-0.820000	0.04457	-0.015000	0.14150	-0.302000	0.09304	GAG		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58621723	58621723	+	Silent	SNP	C	C	T	rs372185281		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:58621723C>T	ENST00000317147.5	-	4	602	c.270G>A	c.(268-270)acG>acA	p.T90T	CNOT1_ENST00000569240.1_Silent_p.T90T|CNOT1_ENST00000441024.2_Silent_p.T90T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.T90T(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATAGGACAGCGTCGAGATAA	0.348																																					p.T90T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G270A	16						.	C	,	1,4395	2.1+/-5.4	0,1,2197	108.0	108.0	108.0		270,270	4.6	1.0	16		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CNOT1	NM_016284.3,NM_206999.1	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	90/2377,90/1552	58621723	2,12994	2198	4300	6498	57179224	SO:0001819	synonymous_variant	23019	exon4			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.270G>A	16.37:g.58621723C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57179224	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																				0.348	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CDH8	1006	broad.mit.edu	37	16	61761046	61761046	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:61761046G>A	ENST00000577390.1	-	9	2442	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	CDH8_ENST00000577730.1_Silent_p.F496F|CDH8_ENST00000299345.6_Silent_p.F496F|CDH8_ENST00000584337.1_Silent_p.F496F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.F496F(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCGGATGCGAATTCAGGGG	0.398																																					p.F496F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1488T	16						.						166.0	156.0	159.0					16																	61761046		2203	4299	6502	60318547	SO:0001819	synonymous_variant	1006	exon9			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1488C>T	16.37:g.61761046G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60318547	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH8	1006	broad.mit.edu	37	16	61823295	61823295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:61823295C>A	ENST00000577390.1	-	8	2323	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.E457*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E457*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.E457*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.E457*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACACTTAATTCTCTGTCAAGT	0.418																																					p.E457X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1369T	16						.						250.0	205.0	220.0					16																	61823295		2203	4300	6503	60380796	SO:0001587	stop_gained	1006	exon8			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1369G>T	16.37:g.61823295C>A	ENSP00000462701:p.Glu457*	Somatic		Capture	Illumina HiSeq	Phase_I	60380796	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	41	9.001797	0.99033	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6178	0.95640	0.0:1.0:0.0:0.0	.	.	.	.	X	457	.	ENSP00000299345:E457X	E	-	1	0	CDH8	60380796	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.299000	0.78831	2.716000	0.92895	0.491000	0.48974	GAA		0.418	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH11	1009	broad.mit.edu	37	16	65006833	65006833	+	Missense_Mutation	SNP	T	T	C	rs201146780		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:65006833T>C	ENST00000268603.4	-	9	1979	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	CDH11_ENST00000394156.3_Missense_Mutation_p.N455S|CDH11_ENST00000566827.1_Missense_Mutation_p.N329S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N455S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GACAGTGATGTTGAGCCAGGC	0.388			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.N455S			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1364G	16						.						130.0	132.0	131.0					16																	65006833		2203	4300	6503	63564334	SO:0001583	missense	1009	exon9			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1364A>G	16.37:g.65006833T>C	ENSP00000268603:p.Asn455Ser	Somatic		Capture	Illumina HiSeq	Phase_I	63564334	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262712	0.80358	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01613	4.73;4.73	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.67517	2.055	0.80722	D	1	D;P	0.71674	0.998;0.893	D;P	0.66084	0.941;0.732	T	0.01249	-1.1406	10	0.72032	D	0.01	.	14.6835	0.69035	0.0:0.0:0.0:1.0	.	455;455	P55287-2;P55287	.;CAD11_HUMAN	S	455;455;438	ENSP00000268603:N455S;ENSP00000377711:N455S	ENSP00000268603:N455S	N	-	2	0	CDH11	63564334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.080000	0.62538	0.533000	0.62120	AAC		0.388	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
TRADD	8717	broad.mit.edu	37	16	67190495	67190495	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:67190495C>A	ENST00000345057.4	-	2	537	c.69G>T	c.(67-69)ctG>ctT	p.L23L	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.L23L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCACCTTGTCCAGCGAGGACT	0.622											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L23L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G69T	16						.						185.0	142.0	157.0					16																	67190495		2198	4300	6498	65747996	SO:0001819	synonymous_variant	8717	exon2			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.69G>T	16.37:g.67190495C>A		Somatic	1097	Capture	Illumina HiSeq	Phase_I	65747996	NM_003789	B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	CCDS10829.1																																																																																				0.622	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2		
ZDHHC1	29800	broad.mit.edu	37	16	67432750	67432750	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:67432750G>A	ENST00000348579.2	-	6	969	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	210					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R210C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTGCGCAGACGCATGGGGTTG	0.577																																					p.R210C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	16						.						95.0	78.0	84.0					16																	67432750		2197	4300	6497	65990251	SO:0001583	missense	29800	exon6			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.628C>T	16.37:g.67432750G>A	ENSP00000340299:p.Arg210Cys	Somatic		Capture	Illumina HiSeq	Phase_I	65990251	NM_013304	O15461	Missense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351274	0.61183	.	.	ENSG00000159714	ENST00000348579	T	0.25912	1.77	5.05	3.02	0.34903	.	1.113210	0.07219	U	0.860557	T	0.40322	0.1112	L	0.49513	1.565	0.36500	D	0.868969	D	0.67145	0.996	P	0.57846	0.828	T	0.16482	-1.0401	10	0.59425	D	0.04	.	9.3695	0.38246	0.0:0.1275:0.3545:0.518	.	210	Q8WTX9	ZDHC1_HUMAN	C	210	ENSP00000340299:R210C	ENSP00000340299:R210C	R	-	1	0	ZDHHC1	65990251	0.892000	0.30473	0.775000	0.31657	0.835000	0.47333	1.343000	0.33930	0.490000	0.27771	-0.490000	0.04691	CGT		0.577	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304	
FAM65A	79567	broad.mit.edu	37	16	67579702	67579702	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:67579702T>C	ENST00000379312.3	+	19	3459	c.3338T>C	c.(3337-3339)gTc>gCc	p.V1113A	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.V1123A|FAM65A_ENST00000042381.4_Missense_Mutation_p.V1109A|FAM65A_ENST00000540839.3_Missense_Mutation_p.V1128A|FAM65A_ENST00000422602.2_Missense_Mutation_p.V1129A	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1113						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.V1109A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AACAACAAGGTCATGGCTGCT	0.672																																					p.V1113A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3338C	16						.						51.0	58.0	55.0					16																	67579702		2198	4300	6498	66137203	SO:0001583	missense	79567	exon19			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3338T>C	16.37:g.67579702T>C	ENSP00000368614:p.Val1113Ala	Somatic		Capture	Illumina HiSeq	Phase_I	66137203	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586846	0.86851	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	D;D;D	0.82803	-1.65;-1.65;-1.65	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90007	0.6880	M	0.66939	2.045	0.42463	D	0.992799	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.90759	0.4663	10	0.56958	D	0.05	-25.2072	15.7584	0.78054	0.0:0.0:0.0:1.0	.	1123;1129;1113	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	A	1113;1109;1129;1123	ENSP00000368614:V1113A;ENSP00000042381:V1109A;ENSP00000400099:V1129A	ENSP00000042381:V1109A	V	+	2	0	FAM65A	66137203	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.563000	0.73964	2.135000	0.66039	0.533000	0.62120	GTC		0.672	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
RANBP10	57610	broad.mit.edu	37	16	67840246	67840246	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:67840246T>C	ENST00000317506.3	-	1	309	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	RANBP10_ENST00000602677.1_Missense_Mutation_p.Y65C|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000536251.1_5'UTR|TSNAXIP1_ENST00000388833.3_5'Flank|RANBP10_ENST00000425512.2_5'UTR|TSNAXIP1_ENST00000415766.3_5'Flank|TSNAXIP1_ENST00000561639.1_5'Flank|RANBP10_ENST00000448631.2_Missense_Mutation_p.Y65C|RANBP10_ENST00000411657.2_5'UTR	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	65	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Y65C(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGACCAATGTAGTTGTATTT	0.627																																					p.Y65C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A194G	16						.						45.0	44.0	44.0					16																	67840246		2198	4300	6498	66397747	SO:0001583	missense	57610	exon1			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.194A>G	16.37:g.67840246T>C	ENSP00000316589:p.Tyr65Cys	Somatic		Capture	Illumina HiSeq	Phase_I	66397747	NM_020850	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556331	0.86231	.	.	ENSG00000141084	ENST00000317506;ENST00000448631	T;T	0.60424	0.19;0.19	5.8	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	L	0.43757	1.38	0.80722	D	1	B;D;P	0.89917	0.024;1.0;0.485	B;D;B	0.75484	0.014;0.986;0.15	T	0.63528	-0.6617	10	0.39692	T	0.17	-10.4914	9.6895	0.40120	0.0:0.0785:0.0:0.9215	.	65;65;65	B4E1Y2;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	C	65	ENSP00000316589:Y65C;ENSP00000392808:Y65C	ENSP00000316589:Y65C	Y	-	2	0	RANBP10	66397747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.644000	0.67902	2.213000	0.71641	0.528000	0.53228	TAC		0.627	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850	
CIRH1A	84916	broad.mit.edu	37	16	69188354	69188354	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:69188354G>T	ENST00000314423.7	+	10	1335	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	CIRH1A_ENST00000352319.4_Intron|CIRH1A_ENST00000563094.1_Missense_Mutation_p.K386N			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	386					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.K386N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCACCTAAAGACAAAGGTAA	0.363																																					p.K386N	Melanoma(69;1156 1278 4951 8715 52012)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1158T	16						.						85.0	84.0	85.0					16																	69188354		2198	4300	6498	67745855	SO:0001583	missense	84916	exon10			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1158G>T	16.37:g.69188354G>T	ENSP00000327179:p.Lys386Asn	Somatic		Capture	Illumina HiSeq	Phase_I	67745855	NM_032830	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395305	0.62066	.	.	ENSG00000141076	ENST00000314423	T	0.32988	1.43	5.42	1.92	0.25849	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.043285	0.85682	D	0.000000	T	0.40694	0.1127	L	0.49126	1.545	0.47094	D	0.99931	D;D	0.89917	1.0;0.999	D;D	0.74023	0.963;0.982	T	0.16335	-1.0406	10	0.21014	T	0.42	.	7.676	0.28486	0.3743:0.0:0.6257:0.0	.	386;386	Q969X6;Q969X6-3	CIR1A_HUMAN;.	N	386	ENSP00000327179:K386N	ENSP00000327179:K386N	K	+	3	2	CIRH1A	67745855	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.729000	0.26028	0.661000	0.30985	0.561000	0.74099	AAG		0.363	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830	
EXOSC6	118460	broad.mit.edu	37	16	70286749	70286749	+	5'Flank	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:70286749C>T	ENST00000435634.1	-	0	0				AARS_ENST00000261772.8_Missense_Mutation_p.D928N|AARS_ENST00000564359.1_5'Flank	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D928N(1)									CCTTTACCGTCCATCAAGCCT	0.587											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D928N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2782A	16						.						126.0	118.0	121.0					16																	70286749		2198	4300	6498	68844250	SO:0001631	upstream_gene_variant	16	exon21			BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70286749C>T	Exception_encountered	Somatic	1121	Capture	Illumina HiSeq	Phase_I	68844250	NM_001605		Missense_Mutation	SNP	ENST00000435634.1	37	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999962	0.74818	.	.	ENSG00000090861	ENST00000261772	T	0.75589	-0.95	5.36	5.36	0.76844	Phosphoesterase, DHHA1 (1);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	L	0.38692	1.165	0.80722	D	1	B;B	0.18741	0.03;0.014	B;B	0.24006	0.05;0.039	T	0.65738	-0.6095	10	0.56958	D	0.05	-21.1583	16.5899	0.84762	0.0:1.0:0.0:0.0	.	952;928	E7ETK8;P49588	.;SYAC_HUMAN	N	928	ENSP00000261772:D928N	ENSP00000261772:D928N	D	-	1	0	AARS	68844250	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.762000	0.85270	2.506000	0.84524	0.462000	0.41574	GAC		0.587	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219	
HYDIN	54768	broad.mit.edu	37	16	70852360	70852360	+	Missense_Mutation	SNP	G	G	A	rs376368556	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:70852360G>A	ENST00000393567.2	-	84	14693	c.14543C>T	c.(14542-14544)gCg>gTg	p.A4848V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4848					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A4799V(1)|p.A4847V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGGCTGACGCAACTTGCCG	0.547													G|||	3	0.000599042	0.0	0.0	5008	,	,		18386	0.0		0.0	False		,,,				2504	0.0031				p.A4847V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C14540T	16						.	G	VAL/ALA	0,3840		0,0,1920	14.0	17.0	16.0		14540	2.8	0.0	16		16	1,8239		0,1,4119	no	missense	HYDIN	NM_032821.2	64	0,1,6039	AA,AG,GG		0.0121,0.0,0.0083	benign	4847/5121	70852360	1,12079	1920	4120	6040	69409861	SO:0001583	missense	54768	exon84			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14543C>T	16.37:g.70852360G>A	ENSP00000377197:p.Ala4848Val	Somatic		Capture	Illumina HiSeq	Phase_I	69409861	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.336060	0.01287	0.0	1.21E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00753	5.74	5.84	2.85	0.33270	.	1.529180	0.05770	N	0.606575	T	0.00552	0.0018	N	0.10782	0.045	0.09310	N	0.999999	B	0.29432	0.244	B	0.23275	0.045	T	0.39643	-0.9604	10	0.02654	T	1	.	8.9141	0.35570	0.3516:0.0:0.6484:0.0	.	4847	F8WD23	.	V	4848;4847	ENSP00000377197:A4848V	ENSP00000313052:A4847V	A	-	2	0	HYDIN	69409861	0.002000	0.14202	0.000000	0.03702	0.034000	0.12701	1.281000	0.33214	0.383000	0.24910	-0.173000	0.13275	GCG		0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70917899	70917899	+	Silent	SNP	G	G	A	rs575084031		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:70917899G>A	ENST00000393567.2	-	59	10053	c.9903C>T	c.(9901-9903)atC>atT	p.I3301I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3301					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I3252I(1)|p.I3300I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGAGATATCGATGGCTATAA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21576	0.001		0.0	False		,,,				2504	0.0				p.I3300I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C9900T	16						.						50.0	55.0	53.0					16																	70917899		2020	4196	6216	69475400	SO:0001819	synonymous_variant	54768	exon59			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9903C>T	16.37:g.70917899G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69475400	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70942643	70942643	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:70942643G>T	ENST00000393567.2	-	48	8276	c.8126C>A	c.(8125-8127)tCt>tAt	p.S2709Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2709					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.S2660Y(1)|p.S2708Y(1)|p.S266Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGTTCCCCAGAAAGGACCTT	0.493																																					p.S2708Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C8123A	16						.						47.0	46.0	46.0					16																	70942643		1843	4084	5927	69500144	SO:0001583	missense	54768	exon48			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8126C>A	16.37:g.70942643G>T	ENSP00000377197:p.Ser2709Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	69500144	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493589	0.26774	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00949	5.51	5.31	4.29	0.51040	.	0.892392	0.09073	U	0.852600	T	0.01558	0.0050	L	0.50333	1.59	0.21627	N	0.999619	B	0.29341	0.242	B	0.25506	0.061	T	0.43491	-0.9388	10	0.56958	D	0.05	.	12.5425	0.56179	0.0:0.0:0.7601:0.2399	.	2708	F8WD23	.	Y	2709;2708	ENSP00000377197:S2709Y	ENSP00000313052:S2708Y	S	-	2	0	HYDIN	69500144	0.001000	0.12720	0.012000	0.15200	0.012000	0.07955	1.124000	0.31320	2.468000	0.83385	0.603000	0.83216	TCT		0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70969874	70969874	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:70969874G>T	ENST00000393567.2	-	45	7289	c.7139C>A	c.(7138-7140)tCt>tAt	p.S2380Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2380					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.S2331Y(1)|p.S2379Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTGCTTGAGATTTCTTCAT	0.527																																					p.S2379Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7136A	16						.						2.0	2.0	2.0					16																	70969874		1073	2432	3505	69527375	SO:0001583	missense	54768	exon45			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7139C>A	16.37:g.70969874G>T	ENSP00000377197:p.Ser2380Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	69527375	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648978	0.29336	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00995	5.46	5.49	3.27	0.37495	.	0.633338	0.11774	U	0.530797	T	0.01800	0.0057	L	0.39898	1.24	0.20489	N	0.999899	D	0.56035	0.974	P	0.51135	0.66	T	0.54077	-0.8347	10	0.72032	D	0.01	.	9.5233	0.39149	0.0:0.3132:0.5675:0.1193	.	2379	F8WD23	.	Y	2380;2379	ENSP00000377197:S2380Y	ENSP00000313052:S2379Y	S	-	2	0	HYDIN	69527375	0.022000	0.18835	0.007000	0.13788	0.011000	0.07611	2.377000	0.44300	2.586000	0.87340	0.609000	0.83330	TCT		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70986440	70986440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:70986440C>A	ENST00000393567.2	-	41	6565	c.6415G>T	c.(6415-6417)Gaa>Taa	p.E2139*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2139					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E2090*(1)|p.E2138*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTTTAATTTCTGGGGCCACC	0.557																																					p.E2138X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6412T	16						.						30.0	32.0	31.0					16																	70986440		1926	4133	6059	69543941	SO:0001587	stop_gained	54768	exon41			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6415G>T	16.37:g.70986440C>A	ENSP00000377197:p.Glu2139*	Somatic		Capture	Illumina HiSeq	Phase_I	69543941	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	46	12.649141	0.99685	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.2619	0.60111	0.0:1.0:0.0:0.0	.	.	.	.	X	2139;2138	.	ENSP00000313052:E2138X	E	-	1	0	HYDIN	69543941	0.826000	0.29277	0.023000	0.16930	0.160000	0.22226	3.689000	0.54706	2.178000	0.69098	0.195000	0.17529	GAA		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71025979	71025979	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:71025979A>C	ENST00000393567.2	-	24	3929	c.3779T>G	c.(3778-3780)tTt>tGt	p.F1260C	HYDIN_ENST00000448089.2_Missense_Mutation_p.F1212C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1260					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.F1260C(1)|p.F1212C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTACTTAACAAAATCATTTAA	0.433																																					p.F1260C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3779G	16						.						55.0	52.0	53.0					16																	71025979		1816	4081	5897	69583480	SO:0001583	missense	54768	exon24			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3779T>G	16.37:g.71025979A>C	ENSP00000377197:p.Phe1260Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69583480	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228478	0.22542	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.04454	5.57;3.62	4.93	2.55	0.30701	.	0.883243	0.09155	U	0.840987	T	0.07052	0.0179	L	0.44542	1.39	0.43771	D	0.996293	D	0.58268	0.982	P	0.50378	0.639	T	0.48779	-0.9005	10	0.38643	T	0.18	.	1.9318	0.03328	0.5477:0.0:0.1914:0.261	.	1260	F8WD23	.	C	1260;1260;1212	ENSP00000377197:F1260C;ENSP00000398544:F1212C	ENSP00000313052:F1260C	F	-	2	0	HYDIN	69583480	0.524000	0.26282	0.502000	0.27614	0.408000	0.30992	1.095000	0.30964	0.297000	0.22615	0.418000	0.28097	TTT		0.433	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ZNF19	7567	broad.mit.edu	37	16	71509908	71509908	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:71509908C>T	ENST00000288177.5	-	6	797	c.542G>A	c.(541-543)aGa>aAa	p.R181K	ZNF19_ENST00000565637.1_Missense_Mutation_p.R139K|ZNF19_ENST00000565100.2_Missense_Mutation_p.R111K|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R181K|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R181K(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGTGTGGATTCTCTGGTGTCT	0.443																																					p.R181K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	16						.						85.0	84.0	84.0					16																	71509908		2198	4300	6498	70067409	SO:0001583	missense	7567	exon6			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.542G>A	16.37:g.71509908C>T	ENSP00000288177:p.Arg181Lys	Somatic		Capture	Illumina HiSeq	Phase_I	70067409	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803522	0.16467	.	.	ENSG00000157429	ENST00000288177	T	0.02197	4.4	3.49	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.181972	0.26750	N	0.022692	T	0.01627	0.0052	N	0.25201	0.72	0.22591	N	0.998955	B	0.23377	0.084	B	0.21360	0.034	T	0.46190	-0.9209	10	0.35671	T	0.21	.	4.3094	0.10964	0.2282:0.6556:0.0:0.1162	.	181	P17023	ZNF19_HUMAN	K	181	ENSP00000288177:R181K	ENSP00000288177:R181K	R	-	2	0	ZNF19	70067409	0.000000	0.05858	0.935000	0.37517	0.279000	0.26890	-0.427000	0.06999	1.025000	0.39708	-0.182000	0.12963	AGA		0.443	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
TAT	6898	broad.mit.edu	37	16	71609857	71609857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:71609857G>A	ENST00000355962.4	-	3	441	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	103					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.S103L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ATATTTGCCCGAGTCCAGGGC	0.473																																					p.S103L	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308T	16						.						138.0	138.0	138.0					16																	71609857		2198	4300	6498	70167358	SO:0001583	missense	6898	exon3				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.308C>T	16.37:g.71609857G>A	ENSP00000348234:p.Ser103Leu	Somatic		Capture	Illumina HiSeq	Phase_I	70167358	NM_000353	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357883	0.82243	.	.	ENSG00000198650	ENST00000355962	D	0.90732	-2.72	5.86	5.86	0.93980	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051601	0.85682	D	0.000000	D	0.96920	0.8994	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.96848	0.9623	10	0.54805	T	0.06	-11.2328	20.1754	0.98177	0.0:0.0:1.0:0.0	.	103;103	A1L4G7;P17735	.;ATTY_HUMAN	L	103	ENSP00000348234:S103L	ENSP00000348234:S103L	S	-	2	0	TAT	70167358	1.000000	0.71417	0.965000	0.40720	0.478000	0.33099	6.368000	0.73104	2.774000	0.95407	0.655000	0.94253	TCG		0.473	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
PHLPP2	23035	broad.mit.edu	37	16	71686759	71686759	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:71686759G>T	ENST00000568954.1	-	18	3129	c.2751C>A	c.(2749-2751)gtC>gtA	p.V917V	PHLPP2_ENST00000540628.1_Silent_p.V127V|PHLPP2_ENST00000567016.1_Silent_p.V952V|PHLPP2_ENST00000360429.3_Silent_p.V917V|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000356272.3_Silent_p.V917V|PHLPP2_ENST00000393524.2_Silent_p.V850V			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	917	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.V917V(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCAGGCTGAAGACTTTAGAGA	0.572																																					p.V917V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2751A	16						.						107.0	91.0	96.0					16																	71686759		2198	4300	6498	70244260	SO:0001819	synonymous_variant	23035	exon17			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2751C>A	16.37:g.71686759G>T		Somatic		Capture	Illumina HiSeq	Phase_I	70244260	NM_015020	A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	CCDS32479.1																																																																																				0.572	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020	
PHLPP2	23035	broad.mit.edu	37	16	71713369	71713369	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:71713369C>A	ENST00000568954.1	-	7	1338	c.960G>T	c.(958-960)gaG>gaT	p.E320D	PHLPP2_ENST00000567016.1_Missense_Mutation_p.E355D|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E320D|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E320D|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E320D			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	320					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E320D(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGTAGAGATCTCGCATAACA	0.388																																					p.E320D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G960T	16						.						103.0	98.0	100.0					16																	71713369		2198	4300	6498	70270870	SO:0001583	missense	23035	exon6			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.960G>T	16.37:g.71713369C>A	ENSP00000457991:p.Glu320Asp	Somatic		Capture	Illumina HiSeq	Phase_I	70270870	NM_015020	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174373	0.21704	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.24350	1.86;2.26;1.86	6.03	0.541	0.17168	.	0.046595	0.85682	D	0.000000	T	0.10035	0.0246	N	0.13327	0.33	0.32031	N	0.599492	B;B	0.24186	0.099;0.006	B;B	0.22753	0.041;0.004	T	0.18429	-1.0337	10	0.17369	T	0.5	-12.5033	2.1781	0.03867	0.1222:0.4829:0.1185:0.2764	.	320;320	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	D	127;320;320;320;320	ENSP00000353610:E320D;ENSP00000348611:E320D;ENSP00000377159:E320D	ENSP00000299971:E127D	E	-	3	2	PHLPP2	70270870	0.225000	0.23685	0.995000	0.50966	0.661000	0.39034	-0.294000	0.08309	-0.088000	0.12506	-0.122000	0.15005	GAG		0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020	
TXNL4B	54957	broad.mit.edu	37	16	72120625	72120625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:72120625G>A	ENST00000268483.3	-	4	682	c.361C>T	c.(361-363)Cga>Tga	p.R121*	RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000423037.1_Nonsense_Mutation_p.R121*|TXNL4B_ENST00000426362.2_Nonsense_Mutation_p.R121*	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	121					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)		p.R121*(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						ATTGCTCCTCGATAGATTACT	0.368																																					p.R121X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C361T	16						.						120.0	112.0	115.0					16																	72120625		2198	4300	6498	70678126	SO:0001587	stop_gained	54957	exon4			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.361C>T	16.37:g.72120625G>A	ENSP00000268483:p.Arg121*	Somatic		Capture	Illumina HiSeq	Phase_I	70678126	NM_001142317	D3DWS6	Nonsense_Mutation	SNP	ENST00000268483.3	37	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498202	0.96355	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000268483:R121X	R	-	1	2	TXNL4B	70678126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.123000	0.64703	2.941000	0.99782	0.655000	0.94253	CGA		0.368	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853	
ZFHX3	463	broad.mit.edu	37	16	72827530	72827530	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:72827530C>T	ENST00000268489.5	-	9	9723	c.9051G>A	c.(9049-9051)acG>acA	p.T3017T	ZFHX3_ENST00000397992.5_Silent_p.T2103T|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3017					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T3017T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTCATAACTCGTTTGGTTTA	0.473																																					p.T3017T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9051A	16						.						140.0	132.0	135.0					16																	72827530		2198	4300	6498	71385031	SO:0001819	synonymous_variant	463	exon9			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9051G>A	16.37:g.72827530C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71385031	NM_006885	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
PSMD7	5713	broad.mit.edu	37	16	74339391	74339391	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:74339391C>T	ENST00000219313.4	+	7	875	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSMD7_ENST00000540379.1_Silent_p.F168F|AC009120.6_ENST00000566411.1_RNA|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000567958.1_Missense_Mutation_p.S193L	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)	p.F245F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						TGCAGGAGTTCGTCAAGGCCT	0.542																																					p.F245F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C735T	16						.						91.0	74.0	80.0					16																	74339391		2198	4300	6498	72896892	SO:0001819	synonymous_variant	5713	exon7			D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.735C>T	16.37:g.74339391C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72896892	NM_002811	D3DWS9|Q6PKI2|Q96E97	Silent	SNP	ENST00000219313.4	37	CCDS10910.1																																																																																				0.542	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811	
GLG1	2734	broad.mit.edu	37	16	74491800	74491800	+	Silent	SNP	G	G	A	rs369058916		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:74491800G>A	ENST00000422840.2	-	24	3236	c.3237C>T	c.(3235-3237)tgC>tgT	p.C1079C	RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000447066.2_Silent_p.C1068C|GLG1_ENST00000205061.5_Silent_p.C1079C	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1079					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.C1079C(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGATGGCTGCGCAGTGGTGTT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		20198	0.001		0.0	False		,,,				2504	0.0				p.C1068C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3204T	16						.	G	,,	1,4395	2.1+/-5.4	0,1,2197	159.0	138.0	145.0		3204,3237,3237	-0.2	1.0	16		145	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GLG1	NM_001145666.1,NM_001145667.1,NM_012201.5	,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,	1068/1193,1079/1180,1079/1204	74491800	1,12995	2198	4300	6498	73049301	SO:0001819	synonymous_variant	2734	exon23				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3237C>T	16.37:g.74491800G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73049301	NM_001145666	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	CCDS45527.1																																																																																				0.507	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
ZFP1	162239	broad.mit.edu	37	16	75203703	75203703	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:75203703G>T	ENST00000393430.2	+	4	819	c.695G>T	c.(694-696)aGa>aTa	p.R232I	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.R199I|ZFP1_ENST00000570010.1_Missense_Mutation_p.R232I|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R232I(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAACATCAGAGAATTCACACT	0.423																																					p.R232I	NSCLC(187;1429 2122 10143 20357 42217)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695T	16						.						44.0	47.0	46.0					16																	75203703		2198	4300	6498	73761204	SO:0001583	missense	162239	exon4			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.695G>T	16.37:g.75203703G>T	ENSP00000377080:p.Arg232Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73761204	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968248	0.74131	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.24908	1.83	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000078	T	0.43765	0.1262	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.27262	-1.0079	10	0.72032	D	0.01	-33.0358	8.9439	0.35747	0.0969:0.0:0.9031:0.0	.	232	Q6P2D0	ZFP1_HUMAN	I	232	ENSP00000377080:R232I	ENSP00000333192:R232I	R	+	2	0	ZFP1	73761204	0.155000	0.22806	1.000000	0.80357	0.998000	0.95712	2.084000	0.41625	2.861000	0.98227	0.655000	0.94253	AGA		0.423	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
KARS	3735	broad.mit.edu	37	16	75669947	75669947	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:75669947G>A	ENST00000302445.3	-	5	571	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.R206W	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	178					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.R178W(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATGTCTCCCCGACGCAGTTTG	0.373																																					p.R206W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616T	16						.						68.0	57.0	61.0					16																	75669947		2198	4300	6498	74227448	SO:0001583	missense	3735	exon6			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.532C>T	16.37:g.75669947G>A	ENSP00000303043:p.Arg178Trp	Somatic		Capture	Illumina HiSeq	Phase_I	74227448	NM_001130089	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460529	0.63513	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.23754	1.89;1.89	6.17	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	H	0.98577	4.27	0.80722	D	1	D;P	0.53312	0.959;0.939	B;B	0.40009	0.262;0.316	T	0.72391	-0.4308	10	0.72032	D	0.01	-10.463	14.0804	0.64917	0.0:0.0:0.4956:0.5044	.	206;178	Q15046-2;Q15046	.;SYK_HUMAN	W	206;178	ENSP00000325448:R206W;ENSP00000303043:R178W	ENSP00000303043:R178W	R	-	1	2	KARS	74227448	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.466000	0.60148	0.910000	0.36722	0.655000	0.94253	CGG		0.373	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548	
CNTNAP4	85445	broad.mit.edu	37	16	76556050	76556050	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:76556050A>G	ENST00000476707.1	+	16	2799	c.2660A>G	c.(2659-2661)aAc>aGc	p.N887S	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.N883S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.N811S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.N835S|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	884	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.N811S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTTGAAAGGAACATGAAGGAG	0.522																																					p.T884A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2650G	16						.						132.0	132.0	132.0					16																	76556050		2057	4227	6284	75113551	SO:0001583	missense	85445	exon17			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2660A>G	16.37:g.76556050A>G	ENSP00000417628:p.Asn887Ser	Somatic		Capture	Illumina HiSeq	Phase_I	75113551	NM_033401	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	A	15.34	2.804261	0.50315	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.45126	D	0.000384	T	0.64125	0.2570	.	.	.	0.45502	D	0.99846	D;D;P	0.71674	0.99;0.998;0.872	D;D;P	0.67382	0.913;0.951;0.705	T	0.69826	-0.5040	9	0.87932	D	0	.	14.919	0.70822	1.0:0.0:0.0:0.0	.	811;887;884	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	S	883;835;811;887	ENSP00000306893:N883S;ENSP00000439733:N835S;ENSP00000418741:N811S;ENSP00000417628:N887S	ENSP00000306893:N883S	N	+	2	0	CNTNAP4	75113551	1.000000	0.71417	0.982000	0.44146	0.034000	0.12701	7.328000	0.79160	2.163000	0.67991	0.533000	0.62120	AAC		0.522	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
ADAMTS18	170692	broad.mit.edu	37	16	77396112	77396112	+	Missense_Mutation	SNP	C	C	T	rs141113241		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:77396112C>T	ENST00000282849.5	-	7	1524	c.1106G>A	c.(1105-1107)tGt>tAt	p.C369Y		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	369	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C369Y(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGCCATTGACAAAAACTATT	0.398																																					p.C369Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106A	16						.						118.0	102.0	107.0					16																	77396112		2198	4300	6498	75953613	SO:0001583	missense	170692	exon7			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1106G>A	16.37:g.77396112C>T	ENSP00000282849:p.Cys369Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	75953613	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408152	0.83340	.	.	ENSG00000140873	ENST00000282849	D	0.87412	-2.25	4.99	4.99	0.66335	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.101355	0.64402	D	0.000001	D	0.95752	0.8618	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97042	0.9758	10	0.87932	D	0	.	17.4543	0.87603	0.0:1.0:0.0:0.0	.	369	Q8TE60	ATS18_HUMAN	Y	369	ENSP00000282849:C369Y	ENSP00000282849:C369Y	C	-	2	0	ADAMTS18	75953613	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.604000	0.82830	2.577000	0.86979	0.563000	0.77884	TGT		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
VAT1L	57687	broad.mit.edu	37	16	77910270	77910270	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:77910270C>A	ENST00000302536.2	+	5	879	c.726C>A	c.(724-726)atC>atA	p.I242I	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	242							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.I242I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CATTTAGAATCTCTGCTGAAG	0.453																																					p.I242I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726A	16						.						177.0	158.0	165.0					16																	77910270		2198	4300	6498	76467771	SO:0001819	synonymous_variant	57687	exon5			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.726C>A	16.37:g.77910270C>A		Somatic		Capture	Illumina HiSeq	Phase_I	76467771	NM_020927	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																				0.453	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
MPHOSPH6	10200	broad.mit.edu	37	16	82185047	82185047	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:82185047T>C	ENST00000258169.4	-	3	287	c.237A>G	c.(235-237)ggA>ggG	p.G79G	MPHOSPH6_ENST00000563504.1_Silent_p.G50G	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	79					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.G79G(1)		endometrium(1)|large_intestine(1)|lung(3)	5						CAGGATTAAATCCTCTGAATG	0.299																																					p.G79G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A237G	16						.						53.0	58.0	56.0					16																	82185047		2200	4288	6488	80742548	SO:0001819	synonymous_variant	10200	exon3			X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.237A>G	16.37:g.82185047T>C		Somatic		Capture	Illumina HiSeq	Phase_I	80742548	NM_005792	B2RAF0	Silent	SNP	ENST00000258169.4	37	CCDS10937.1																																																																																				0.299	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792	
SLC38A8	146167	broad.mit.edu	37	16	84050843	84050843	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:84050843C>A	ENST00000299709.3	-	7	854	c.855G>T	c.(853-855)ttG>ttT	p.L285F		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	285					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L285F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTAGGACATCAAGACGTCAG	0.512																																					p.L285F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G855T	16						.						121.0	101.0	108.0					16																	84050843		2200	4300	6500	82608344	SO:0001583	missense	146167	exon7				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.855G>T	16.37:g.84050843C>A	ENSP00000299709:p.Leu285Phe	Somatic		Capture	Illumina HiSeq	Phase_I	82608344	NM_001080442		Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004052	0.54254	.	.	ENSG00000166558	ENST00000299709	T	0.03496	3.91	4.75	3.79	0.43588	.	0.000000	0.64402	D	0.000004	T	0.16557	0.0398	M	0.85859	2.78	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.00188	-1.1940	10	0.59425	D	0.04	.	6.7344	0.23401	0.0:0.5882:0.3112:0.1006	.	285	A6NNN8	S38A8_HUMAN	F	285	ENSP00000299709:L285F	ENSP00000299709:L285F	L	-	3	2	SLC38A8	82608344	0.997000	0.39634	0.995000	0.50966	0.904000	0.53231	0.451000	0.21779	0.960000	0.38005	0.478000	0.44815	TTG		0.512	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442	
DNAAF1	123872	broad.mit.edu	37	16	84188229	84188229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:84188229C>A	ENST00000378553.5	+	4	524	c.400C>A	c.(400-402)Ctc>Atc	p.L134I	DNAAF1_ENST00000334315.5_Missense_Mutation_p.L134I	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	134					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.L134I(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GCTGCGCTGTCTCTGGCTGCA	0.488																																					p.L134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400A	16						.						102.0	96.0	98.0					16																	84188229		2200	4300	6500	82745730	SO:0001583	missense	123872	exon4			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.400C>A	16.37:g.84188229C>A	ENSP00000367815:p.Leu134Ile	Somatic		Capture	Illumina HiSeq	Phase_I	82745730	NM_178452	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727162	0.69074	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.46819	0.86;0.86	4.99	4.03	0.46877	.	0.000000	0.64402	D	0.000003	T	0.57475	0.2056	M	0.76727	2.345	0.43334	D	0.995371	P	0.49447	0.924	P	0.54270	0.747	T	0.60244	-0.7301	10	0.54805	T	0.06	-14.0009	8.2867	0.31932	0.0:0.8276:0.0:0.1724	.	134	Q8NEP3	DAAF1_HUMAN	I	134	ENSP00000334593:L134I;ENSP00000367815:L134I	ENSP00000334593:L134I	L	+	1	0	DNAAF1	82745730	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.520000	0.53465	2.306000	0.77630	0.650000	0.86243	CTC		0.488	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
FBXO31	79791	broad.mit.edu	37	16	87367838	87367838	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:87367838G>A	ENST00000311635.7	-	8	1063	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	RP11-178L8.4_ENST00000568879.1_Silent_p.I14I	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	351					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.R351W(1)|p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGATCCGATGCCTCAGG	0.657																																					p.R351W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1051T	16						.						61.0	60.0	60.0					16																	87367838		2198	4300	6498	85925339	SO:0001583	missense	79791	exon8			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1051C>T	16.37:g.87367838G>A	ENSP00000310841:p.Arg351Trp	Somatic		Capture	Illumina HiSeq	Phase_I	85925339	NM_024735	Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000771	0.74818	.	.	ENSG00000103264	ENST00000311635	T	0.67865	-0.29	5.06	5.06	0.68205	.	0.050672	0.85682	D	0.000000	T	0.76793	0.4037	L	0.51422	1.61	0.52099	D	0.999949	D;D	0.76494	0.998;0.999	P;P	0.61874	0.846;0.895	T	0.79135	-0.1928	10	0.66056	D	0.02	-21.8475	18.4237	0.90602	0.0:0.0:1.0:0.0	.	351;243	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	W	351	ENSP00000310841:R351W	ENSP00000310841:R351W	R	-	1	2	FBXO31	85925339	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.649000	0.83500	2.355000	0.79922	0.561000	0.74099	CGG		0.657	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735	
ZC3H18	124245	broad.mit.edu	37	16	88666313	88666313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:88666313C>T	ENST00000301011.5	+	6	1245	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	349						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R349*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAAGTTTTTCGAGATTGGAA	0.488																																					p.R349X	Ovarian(121;375 2276 20373 38669)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1045T	16						.						114.0	128.0	123.0					16																	88666313		2198	4300	6498	87193814	SO:0001587	stop_gained	124245	exon6			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1045C>T	16.37:g.88666313C>T	ENSP00000301011:p.Arg349*	Somatic		Capture	Illumina HiSeq	Phase_I	87193814	NM_144604	Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301061	0.98196	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	5.16	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5262	14.7222	0.69314	0.1543:0.8457:0.0:0.0	.	.	.	.	X	349;373;373;232	.	ENSP00000289509:R373X	R	+	1	2	ZC3H18	87193814	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.781000	0.38644	2.390000	0.81377	0.561000	0.74099	CGA		0.488	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
GALNS	2588	broad.mit.edu	37	16	88884531	88884531	+	Splice_Site	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:88884531A>C	ENST00000268695.5	-	13	1454	c.1366T>G	c.(1366-1368)Ttt>Gtt	p.F456V	GALNS_ENST00000542788.1_Splice_Site_p.F381V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	456					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.F456V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GCGCTGGCAAAGCTGGGGACA	0.672																																					p.F456V	GBM(129;1929 2344 25209 33204)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1366G	16						.						52.0	40.0	44.0					16																	88884531		2175	4286	6461	87412032	SO:0001630	splice_region_variant	2588	exon13			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1365-1T>G	16.37:g.88884531A>C		Somatic		Capture	Illumina HiSeq	Phase_I	87412032	NM_000512	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	A	8.222	0.802645	0.16397	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.89050	-2.46;-2.46	5.11	1.53	0.23141	Alkaline-phosphatase-like, core domain (1);	0.198274	0.42294	N	0.000739	T	0.74336	0.3703	N	0.10916	0.065	0.36705	D	0.880322	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.63690	-0.6580	10	0.30078	T	0.28	.	7.5285	0.27668	0.4866:0.4011:0.0:0.1123	.	456;456	B2R6P1;P34059	.;GALNS_HUMAN	V	456;381	ENSP00000268695:F456V;ENSP00000438197:F381V	ENSP00000268695:F456V	F	-	1	0	GALNS	87412032	0.047000	0.20315	0.107000	0.21349	0.094000	0.18550	0.529000	0.23019	0.285000	0.22329	0.379000	0.24179	TTT		0.672	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1		Missense_Mutation
ANKRD11	29123	broad.mit.edu	37	16	89352451	89352451	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:89352451C>T	ENST00000301030.4	-	8	1348	c.888G>A	c.(886-888)tcG>tcA	p.S296S	ANKRD11_ENST00000378330.2_Silent_p.S296S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	296					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S296S(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACTTACCCGTCGAGCTCTCCT	0.577																																					p.S296S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G888A	16						.						110.0	101.0	104.0					16																	89352451		2198	4300	6498	87879952	SO:0001819	synonymous_variant	29123	exon8			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.888G>A	16.37:g.89352451C>T		Somatic		Capture	Illumina HiSeq	Phase_I	87879952	NM_013275	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																				0.577	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
GAS8	2622	broad.mit.edu	37	16	90095485	90095485	+	Intron	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:90095485G>A	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.T89M|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.T89M(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GCTGCTGCCCGTCTCCCTGTC	0.602																																					p.T89M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C266T	16						.						82.0	45.0	58.0					16																	90095485		2092	4117	6209	88622986	SO:0001627	intron_variant	750	exon1			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1355G>A	16.37:g.90095485G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88622986	NM_001214	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505864	0.12822	.	.	ENSG00000221819	ENST00000408886	T	0.53423	0.62	1.9	0.924	0.19418	.	.	.	.	.	T	0.39489	0.1080	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.18967	-1.0320	8	.	.	.	.	4.363	0.11211	0.2036:0.0:0.7964:0.0	.	97	O95177	CP003_HUMAN	M	89	ENSP00000386218:T89M	.	T	-	2	0	C16orf3	88622986	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.268000	0.08607	0.373000	0.24621	0.462000	0.41574	ACG		0.602	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
GRIN2A	2903	broad.mit.edu	37	16	9984943	9984943	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:9984943A>G	ENST00000396573.2	-	5	1331	c.1022T>C	c.(1021-1023)gTt>gCt	p.V341A	GRIN2A_ENST00000330684.3_Missense_Mutation_p.V341A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V341A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V184A|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V341A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V341A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	341					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V341A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCCCATGTAACATTGACCAT	0.428																																					p.V341A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1022C	16						.						103.0	95.0	98.0					16																	9984943		2197	4300	6497	9892444	SO:0001583	missense	2903	exon4				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1022T>C	16.37:g.9984943A>G	ENSP00000379818:p.Val341Ala	Somatic		Capture	Illumina HiSeq	Phase_I	9892444	NM_001134408	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260517	0.59431	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	4.45	4.45	0.53987	.	0.056541	0.64402	D	0.000001	T	0.61702	0.2368	M	0.84846	2.72	0.58432	D	0.999999	B;B;D	0.60575	0.151;0.18;0.988	B;B;D	0.70716	0.236;0.181;0.97	T	0.67352	-0.5692	9	.	.	.	.	12.8509	0.57856	1.0:0.0:0.0:0.0	.	184;341;341	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	A	341;341;184;341;341	ENSP00000379818:V341A;ENSP00000385872:V341A;ENSP00000441572:V184A;ENSP00000332549:V341A;ENSP00000379820:V341A	.	V	-	2	0	GRIN2A	9892444	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.231000	0.89794	1.772000	0.52199	0.477000	0.44152	GTT		0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GAS8	2622	broad.mit.edu	37	16	90103663	90103663	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr16:90103663G>T	ENST00000268699.4	+	7	902	c.780G>T	c.(778-780)aaG>aaT	p.K260N	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.K235N	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	260					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.K260N(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ACATGCGGAAGAAGGAGGACC	0.632																																					p.K260N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G780T	16						.						61.0	59.0	59.0					16																	90103663		2198	4300	6498	88631164	SO:0001583	missense	2622	exon7			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.780G>T	16.37:g.90103663G>T	ENSP00000268699:p.Lys260Asn	Somatic		Capture	Illumina HiSeq	Phase_I	88631164	NM_001481	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619710	0.87460	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.51574	0.7;0.7	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.83852	2.665	0.80722	D	1	D;P	0.63046	0.992;0.89	D;P	0.62955	0.909;0.745	T	0.72574	-0.4252	9	.	.	.	-41.5586	14.1344	0.65276	0.0725:0.0:0.9275:0.0	.	231;260	B7Z1X3;O95995	.;GAS8_HUMAN	N	235;260;231	ENSP00000440977:K235N;ENSP00000268699:K260N	.	K	+	3	2	GAS8	88631164	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.730000	0.47335	1.306000	0.44926	0.563000	0.77884	AAG		0.632	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
MYH8	4626	broad.mit.edu	37	17	10304491	10304491	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:10304491T>G	ENST00000403437.2	-	25	3220	c.3126A>C	c.(3124-3126)gaA>gaC	p.E1042D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1042					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1042D(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTTTCTTGTTCCAGAGACC	0.338									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.E1042D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3126C	17						.						101.0	89.0	93.0					17																	10304491		2203	4300	6503	10245216	SO:0001583	missense	4626	exon25	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3126A>C	17.37:g.10304491T>G	ENSP00000384330:p.Glu1042Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10245216	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327265	0.60743	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.96136	-3.92	5.48	-9.86	0.00473	.	0.000000	0.42172	U	0.000755	D	0.93746	0.8001	M	0.78344	2.41	0.33679	D	0.611826	B	0.23591	0.088	B	0.24394	0.053	T	0.65582	-0.6133	10	0.62326	D	0.03	.	22.2245	0.99968	0.0:0.7706:0.0:0.2294	.	1042	P13535	MYH8_HUMAN	D	1042	ENSP00000384330:E1042D	ENSP00000252173:E1042D	E	-	3	2	MYH8	10245216	0.006000	0.16342	0.445000	0.26908	0.991000	0.79684	-1.099000	0.03343	-2.013000	0.00949	-0.297000	0.09499	GAA		0.338	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10309648	10309648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:10309648C>A	ENST00000403437.2	-	20	2332	c.2238G>T	c.(2236-2238)gaG>gaT	p.E746D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	746	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E746D(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAGAAGTTTCTCAGAAGCCT	0.358									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.E746D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2238T	17						.						88.0	89.0	89.0					17																	10309648		2203	4300	6503	10250373	SO:0001583	missense	4626	exon20	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2238G>T	17.37:g.10309648C>A	ENSP00000384330:p.Glu746Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10250373	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099457	0.76983	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.73152	-0.72	5.22	4.26	0.50523	Myosin head, motor domain (2);	0.000000	0.42172	U	0.000755	T	0.76786	0.4036	M	0.89601	3.045	0.48288	D	0.999626	B	0.15141	0.012	B	0.25291	0.059	T	0.77159	-0.2690	10	0.54805	T	0.06	.	13.7607	0.62963	0.0:0.9265:0.0:0.0735	.	746	P13535	MYH8_HUMAN	D	746	ENSP00000384330:E746D	ENSP00000252173:E746D	E	-	3	2	MYH8	10250373	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	0.256000	0.18351	1.453000	0.47775	0.650000	0.86243	GAG		0.358	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH1	4619	broad.mit.edu	37	17	10416072	10416072	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:10416072C>T	ENST00000226207.5	-	11	1028	c.934G>A	c.(934-936)Gat>Aat	p.D312N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	312	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D312N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGGCATAATCGTATGGGTTG	0.398																																					p.D312N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934A	17						.						198.0	185.0	189.0					17																	10416072		2203	4300	6503	10356797	SO:0001583	missense	4619	exon11				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.934G>A	17.37:g.10416072C>T	ENSP00000226207:p.Asp312Asn	Somatic		Capture	Illumina HiSeq	Phase_I	10356797	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068951	0.76301	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87412	-2.25	5.87	5.87	0.94306	Myosin head, motor domain (2);	0.000000	0.45606	U	0.000348	D	0.94049	0.8093	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.93793	0.7094	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	312	P12882	MYH1_HUMAN	N	312	ENSP00000226207:D312N	ENSP00000226207:D312N	D	-	1	0	MYH1	10356797	1.000000	0.71417	0.989000	0.46669	0.071000	0.16799	7.787000	0.85759	2.941000	0.99782	0.655000	0.94253	GAT		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
DNAH9	1770	broad.mit.edu	37	17	11540044	11540044	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11540044G>T	ENST00000262442.4	+	9	1797	c.1729G>T	c.(1729-1731)Gat>Tat	p.D577Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D577Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	577	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D577Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCAACAAAGATCTGGATGC	0.468																																					p.D577Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1729T	17						.						148.0	141.0	143.0					17																	11540044		2203	4300	6503	11480769	SO:0001583	missense	1770	exon9			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1729G>T	17.37:g.11540044G>T	ENSP00000262442:p.Asp577Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	11480769	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478454	0.63849	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61274	0.12;0.12	5.7	5.7	0.88788	Dynein heavy chain, domain-1 (1);	0.496399	0.21486	N	0.073746	T	0.70824	0.3268	M	0.74467	2.265	0.80722	D	1	P	0.51933	0.949	P	0.53102	0.718	T	0.73789	-0.3872	10	0.87932	D	0	.	17.1124	0.86679	0.0:0.0:1.0:0.0	.	577	Q9NYC9	DYH9_HUMAN	Y	577	ENSP00000262442:D577Y;ENSP00000414874:D577Y	ENSP00000262442:D577Y	D	+	1	0	DNAH9	11480769	1.000000	0.71417	0.430000	0.26722	0.510000	0.34073	7.038000	0.76537	2.848000	0.98002	0.655000	0.94253	GAT		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11556085	11556085	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11556085C>T	ENST00000262442.4	+	14	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000454412.2_Silent_p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	787	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C787C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCATTTGCGATTATGTCA	0.358																																					p.C787C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2361T	17						.						93.0	92.0	93.0					17																	11556085		2203	4300	6503	11496810	SO:0001819	synonymous_variant	1770	exon14			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2361C>T	17.37:g.11556085C>T		Somatic		Capture	Illumina HiSeq	Phase_I	11496810	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.358	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11584042	11584042	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11584042G>A	ENST00000262442.4	+	19	3647	c.3579G>A	c.(3577-3579)gaG>gaA	p.E1193E	DNAH9_ENST00000454412.2_Silent_p.E1193E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1193	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1193E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTTGCAGGAGCTGCCTGAGA	0.527																																					p.E1193E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3579A	17						.						64.0	53.0	57.0					17																	11584042		2203	4300	6503	11524767	SO:0001819	synonymous_variant	1770	exon19			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3579G>A	17.37:g.11584042G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11524767	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11597209	11597209	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11597209G>A	ENST00000262442.4	+	21	4707	c.4639G>A	c.(4639-4641)Gac>Aac	p.D1547N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1547N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1547	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D1547N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAGGCATCGACATTGACTT	0.428																																					p.D1547N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4639A	17						.						116.0	111.0	112.0					17																	11597209		2203	4300	6503	11537934	SO:0001583	missense	1770	exon21			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4639G>A	17.37:g.11597209G>A	ENSP00000262442:p.Asp1547Asn	Somatic		Capture	Illumina HiSeq	Phase_I	11537934	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291731	0.59976	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.64991	-0.13;-0.13	4.72	4.72	0.59763	Dynein heavy chain, domain-2 (1);	0.125210	0.52532	D	0.000062	T	0.74627	0.3741	M	0.78344	2.41	0.80722	D	1	P	0.41498	0.752	P	0.51385	0.668	T	0.75557	-0.3276	10	0.44086	T	0.13	.	17.8424	0.88719	0.0:0.0:1.0:0.0	.	1547	Q9NYC9	DYH9_HUMAN	N	1547;1547;129	ENSP00000262442:D1547N;ENSP00000414874:D1547N	ENSP00000262442:D1547N	D	+	1	0	DNAH9	11537934	1.000000	0.71417	0.701000	0.30321	0.152000	0.21847	7.176000	0.77643	2.627000	0.88993	0.655000	0.94253	GAC		0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11687706	11687706	+	Silent	SNP	C	C	T	rs554551399		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11687706C>T	ENST00000262442.4	+	41	7979	c.7911C>T	c.(7909-7911)ctC>ctT	p.L2637L	DNAH9_ENST00000454412.2_Silent_p.L2637L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2637	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2637L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTGAAGCTCGGAAACTTCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17649	0.001		0.0	False		,,,				2504	0.0				p.L2637L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7911T	17						.						180.0	173.0	175.0					17																	11687706		2203	4300	6503	11628431	SO:0001819	synonymous_variant	1770	exon41			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7911C>T	17.37:g.11687706C>T		Somatic		Capture	Illumina HiSeq	Phase_I	11628431	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11786949	11786949	+	Missense_Mutation	SNP	C	C	T	rs201246193	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11786949C>T	ENST00000262442.4	+	56	10921	c.10853C>T	c.(10852-10854)aCg>aTg	p.T3618M	DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.T3618M|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3618	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T3618M(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCTGAAAACGTTGGAAGAC	0.507													C|||	8	0.00159744	0.0	0.0	5008	,	,		19712	0.003		0.001	False		,,,				2504	0.0041				p.T3618M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10853T	17						.						139.0	119.0	126.0					17																	11786949		2203	4300	6503	11727674	SO:0001583	missense	1770	exon56			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10853C>T	17.37:g.11786949C>T	ENSP00000262442:p.Thr3618Met	Somatic		Capture	Illumina HiSeq	Phase_I	11727674	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.637	0.486083	0.12641	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.55052	0.54;0.54	4.91	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	N	0.25890	0.77	0.80722	D	1	B	0.26483	0.15	B	0.26094	0.066	T	0.29882	-0.9997	10	0.48119	T	0.1	.	10.7099	0.45977	0.1486:0.7083:0.1431:0.0	.	3618	Q9NYC9	DYH9_HUMAN	M	3618;3618;2200	ENSP00000262442:T3618M;ENSP00000414874:T3618M	ENSP00000262442:T3618M	T	+	2	0	DNAH9	11727674	0.745000	0.28261	0.859000	0.33776	0.025000	0.11179	1.474000	0.35398	1.408000	0.46895	-0.181000	0.13052	ACG		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11865312	11865312	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11865312C>A	ENST00000262442.4	+	68	13040	c.12972C>A	c.(12970-12972)ctC>ctA	p.L4324L	DNAH9_ENST00000608377.1_Silent_p.L636L|DNAH9_ENST00000454412.2_Silent_p.L4248L|DNAH9_ENST00000396001.2_3'UTR|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4324					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L4324L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCCAGACCTCCTCAACAGAA	0.552																																					p.L636L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1908A	17						.						80.0	75.0	77.0					17																	11865312		2203	4300	6503	11806037	SO:0001819	synonymous_variant	1770	exon14			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12972C>A	17.37:g.11865312C>A		Somatic		Capture	Illumina HiSeq	Phase_I	11806037	NM_004662	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ZNF18	7566	broad.mit.edu	37	17	11882036	11882036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:11882036C>A	ENST00000322748.3	-	9	1492	c.888G>T	c.(886-888)gaG>gaT	p.E296D	ZNF18_ENST00000580306.2_Missense_Mutation_p.E296D|ZNF18_ENST00000454073.3_Missense_Mutation_p.E295D|RP11-1096G20.5_ENST00000580270.1_RNA	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	296					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E296D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AATTTAGGTTCTCCTTGTCAT	0.443																																					p.E296D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G888T	17						.						87.0	93.0	91.0					17																	11882036		2163	4196	6359	11822761	SO:0001583	missense	7566	exon9			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.888G>T	17.37:g.11882036C>A	ENSP00000315664:p.Glu296Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11822761	NM_144680	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887372	0.33348	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.07114	3.22	5.4	2.02	0.26589	.	0.000000	0.56097	D	0.000038	T	0.06416	0.0165	N	0.24115	0.695	0.25597	N	0.986639	P;P	0.41393	0.748;0.633	B;B	0.44163	0.443;0.257	T	0.21999	-1.0229	10	0.54805	T	0.06	-27.179	4.4706	0.11710	0.1521:0.576:0.0:0.2719	.	295;296	P17022-2;P17022	.;ZNF18_HUMAN	D	296	ENSP00000315664:E296D	ENSP00000315664:E296D	E	-	3	2	ZNF18	11822761	0.029000	0.19370	0.992000	0.48379	0.986000	0.74619	0.115000	0.15540	0.250000	0.21479	0.563000	0.77884	GAG		0.443	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596	
TEKT3	64518	broad.mit.edu	37	17	15231367	15231367	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:15231367C>T	ENST00000395930.1	-	4	791	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TEKT3_ENST00000338696.2_Missense_Mutation_p.R202Q	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	202					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R202Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTCTTTTCTCGATGAAATAG	0.413																																					p.R202Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605A	17						.						199.0	160.0	173.0					17																	15231367		2203	4300	6503	15172092	SO:0001583	missense	64518	exon4			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.605G>A	17.37:g.15231367C>T	ENSP00000379263:p.Arg202Gln	Somatic		Capture	Illumina HiSeq	Phase_I	15172092	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313672	0.95655	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.26518	1.73;1.73;1.73	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	H	0.95950	3.745	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.77699	-0.2490	10	0.87932	D	0	-4.9562	16.4988	0.84252	0.0:1.0:0.0:0.0	.	202	Q9BXF9	TEKT3_HUMAN	Q	202;202;36	ENSP00000379263:R202Q;ENSP00000343995:R202Q;ENSP00000443280:R36Q	ENSP00000343995:R202Q	R	-	2	0	TEKT3	15172092	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.045000	0.64220	2.437000	0.82529	0.491000	0.48974	CGA		0.413	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	
CDRT1	374286	broad.mit.edu	37	17	15492480	15492480	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:15492480C>T	ENST00000395906.3	-	12	2067	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	CDRT1_ENST00000583965.1_3'UTR|CDRT1_ENST00000354433.3_Missense_Mutation_p.E190K|RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	690								p.E190*(2)|p.E690*(2)|p.E190K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GCACTTGGTTCGATTCCATTC	0.507																																					p.E690K												.	.	5	Substitution - Nonsense(4)|Substitution - Missense(1)	large_intestine(5)	c.G2068A	17						.						105.0	112.0	109.0					17																	15492480		2199	4299	6498	15433205	SO:0001583	missense	374286	exon12			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.2068G>A	17.37:g.15492480C>T	ENSP00000379242:p.Glu690Lys	Somatic		Capture	Illumina HiSeq	Phase_I	15433205	NM_006382	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	C	4.928	0.172385	0.09391	.	.	ENSG00000241322;ENSG00000251537;ENSG00000251537	ENST00000354433;ENST00000261644;ENST00000395906	T;T	0.71579	-0.58;0.43	1.38	0.0901	0.14462	.	.	.	.	.	T	0.43590	0.1254	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30179	-0.9987	9	0.02654	T	1	.	5.8388	0.18623	0.4061:0.5939:0.0:0.0	.	690	O95170	CDRT1_HUMAN	K	190;720;690	ENSP00000346416:E190K;ENSP00000379242:E690K	ENSP00000346416:E190K	E	-	1	0	CDRT1;RP11-385D13.1	15433205	0.851000	0.29673	0.000000	0.03702	0.000000	0.00434	-0.129000	0.10515	-0.389000	0.07786	0.000000	0.15137	GAA		0.507	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	
CDRT1	374286	broad.mit.edu	37	17	15510989	15510989	+	Silent	SNP	G	G	A	rs374639525	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:15510989G>A	ENST00000395906.3	-	6	1130	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	RP11-385D13.1_ENST00000455584.2_Silent_p.Y687Y	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	377								p.Y377Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCCACAGGTTGTACTCATTCT	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20820	0.0		0.0	False		,,,				2504	0.0				p.Y377Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1131T	17						.	G		1,4405	2.1+/-5.4	0,1,2202	77.0	75.0	76.0		1131	4.0	1.0	17		76	0,8596		0,0,4298	no	coding-synonymous	CDRT1	NM_006382.3		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		377/753	15510989	1,13001	2203	4298	6501	15451714	SO:0001819	synonymous_variant	10626	exon6			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1131C>T	17.37:g.15510989G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15451714	NM_006382	O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447638	0.12223	2.27E-4	0.0	ENSG00000251537	ENST00000455584	.	.	.	4.99	4.01	0.46588	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53027	-0.8496	4	.	.	.	.	7.2973	0.26401	0.0924:0.1709:0.7367:0.0	.	.	.	.	I	702	.	.	T	-	2	0	RP11-385D13.1	15451714	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	1.186000	0.32078	1.233000	0.43693	0.561000	0.74099	ACA		0.483	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	
NCOR1	9611	broad.mit.edu	37	17	15973495	15973495	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:15973495C>A	ENST00000268712.3	-	31	4754	c.4497G>T	c.(4495-4497)atG>atT	p.M1499I	NCOR1_ENST00000395851.1_Missense_Mutation_p.M1515I|NCOR1_ENST00000395857.3_Missense_Mutation_p.M83I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1499	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.M1499I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAGTTCTGTTCATCATGGGTG	0.393																																					p.M1515I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4545T	17						.						196.0	190.0	192.0					17																	15973495		2203	4300	6503	15914220	SO:0001583	missense	9611	exon30			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4497G>T	17.37:g.15973495C>A	ENSP00000268712:p.Met1499Ile	Somatic		Capture	Illumina HiSeq	Phase_I	15914220	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522521	0.44866	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.41758	0.99;1.59;0.99	5.82	4.85	0.62838	.	0.220560	0.56097	N	0.000027	T	0.34832	0.0911	L	0.36672	1.1	0.39362	D	0.965935	B;B;B;B	0.17852	0.019;0.024;0.0;0.0	B;B;B;B	0.17979	0.02;0.013;0.001;0.001	T	0.21280	-1.0250	10	0.62326	D	0.03	-8.139	12.4728	0.55797	0.0:0.9228:0.0:0.0772	.	310;1406;1499;1515	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	I	1499;1515;1406;83	ENSP00000268712:M1499I;ENSP00000379192:M1515I;ENSP00000379198:M83I	ENSP00000268712:M1499I	M	-	3	0	NCOR1	15914220	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.154000	0.50693	1.466000	0.48025	-0.150000	0.13652	ATG		0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
ZNF287	57336	broad.mit.edu	37	17	16455784	16455784	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:16455784G>T	ENST00000395824.1	-	6	2289	c.1672C>A	c.(1672-1674)Cat>Aat	p.H558N	ZNF287_ENST00000395825.3_Missense_Mutation_p.H558N			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	551					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H551N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTCCAGAATGAATTCTCTGA	0.358																																					p.H558N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1672A	17						.						102.0	106.0	105.0					17																	16455784		2203	4300	6503	16396509	SO:0001583	missense	57336	exon6			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1672C>A	17.37:g.16455784G>T	ENSP00000379168:p.His558Asn	Somatic		Capture	Illumina HiSeq	Phase_I	16396509	NM_020653	Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809004	0.70797	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.26660	1.72;1.72	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000034	T	0.63319	0.2501	H	0.94222	3.51	0.45439	D	0.998418	D	0.89917	1.0	D	0.91635	0.999	T	0.73392	-0.3997	10	0.87932	D	0	.	16.6061	0.84830	0.0:0.0:1.0:0.0	.	551	Q9HBT7	ZN287_HUMAN	N	558	ENSP00000379169:H558N;ENSP00000379168:H558N	ENSP00000379168:H558N	H	-	1	0	ZNF287	16396509	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.701000	0.84566	2.873000	0.98535	0.561000	0.74099	CAT		0.358	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1		
CCDC144A	9720	broad.mit.edu	37	17	16612765	16612765	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:16612765A>G	ENST00000360524.8	+	5	1470	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N465S|CCDC144A_ENST00000340621.5_Missense_Mutation_p.N464S|CCDC144A_ENST00000443444.2_Missense_Mutation_p.N465S|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N465S|CCDC144A_ENST00000456009.1_Intron	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	465								p.N465S(1)									AGTACAAACAACTATAAAAGC	0.343																																					p.N465S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1394G	17						.						84.0	68.0	73.0					17																	16612765		1804	4046	5850	16553490	SO:0001583	missense	9720	exon5			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1394A>G	17.37:g.16612765A>G	ENSP00000353717:p.Asn465Ser	Somatic		Capture	Illumina HiSeq	Phase_I	16553490	NM_014695	O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.207221	0.39003	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	1.26	1.26	0.21427	.	.	.	.	.	T	0.12390	0.0301	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.11941	-1.0567	8	.	.	.	.	6.3393	0.21314	1.0:0.0:0.0:0.0	.	465	A2RUR9	C144A_HUMAN	S	464;465;465;465;465;465	ENSP00000344740:N464S;ENSP00000382215:N465S;ENSP00000439262:N465S;ENSP00000440655:N465S;ENSP00000353717:N465S;ENSP00000353685:N465S	.	N	+	2	0	CCDC144A	16553490	0.000000	0.05858	0.138000	0.22173	0.167000	0.22549	-0.031000	0.12287	0.566000	0.29273	0.147000	0.16070	AAC		0.343	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
CCDC144A	9720	broad.mit.edu	37	17	16638743	16638743	+	Missense_Mutation	SNP	G	G	A	rs199644397	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:16638743G>A	ENST00000360524.8	+	12	3234	c.3158G>A	c.(3157-3159)cGa>cAa	p.R1053Q	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R1053Q|CCDC144A_ENST00000443444.2_Missense_Mutation_p.R1053Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R1053Q|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R773Q	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1053								p.R1053Q(1)									ATGTTGCTTCGACAGCAACTG	0.383													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20543	0.0		0.0	False		,,,				2504	0.0				p.R1053Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3158A	17						.	G	GLN/ARG	5,3697		0,5,1846	44.0	41.0	42.0		3158	1.0	0.6	17		42	0,8192		0,0,4096	no	missense	CCDC144A	NM_014695.1	43	0,5,5942	AA,AG,GG		0.0,0.1351,0.042	benign	1053/1428	16638743	5,11889	1851	4096	5947	16579468	SO:0001583	missense	9720	exon12			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3158G>A	17.37:g.16638743G>A	ENSP00000353717:p.Arg1053Gln	Somatic		Capture	Illumina HiSeq	Phase_I	16579468	NM_014695	O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	1.284|1.284	-0.609414|-0.609414	0.03690|0.03690	0.001351|0.001351	0.0|0.0	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	.|T;T;T;T	.|0.18174	.|2.23;2.23;2.23;2.23	2.08|2.08	1.05|1.05	0.20165|0.20165	.|.	.|.	.|.	.|.	.|.	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.17082|0.17082	0.46|0.46	0.28443|0.28443	N|N	0.916715|0.916715	.|P;P	.|0.45283	.|0.855;0.6	.|B;B	.|0.43251	.|0.413;0.101	T|T	0.22556|0.22556	-1.0213|-1.0213	5|9	.|0.13853	.|T	.|0.58	.|.	8.7434|8.7434	0.34571|0.34571	0.0:0.232:0.768:0.0|0.0:0.232:0.768:0.0	.|.	.|773;1053	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	N|Q	537|1053;1053;1053;773	.|ENSP00000382215:R1053Q;ENSP00000439262:R1053Q;ENSP00000353717:R1053Q;ENSP00000394201:R773Q	.|ENSP00000353717:R1053Q	D|R	+|+	1|2	0|0	CCDC144A|CCDC144A	16579468|16579468	0.991000|0.991000	0.36638|0.36638	0.625000|0.625000	0.29200|0.29200	0.005000|0.005000	0.04900|0.04900	1.267000|1.267000	0.33050|0.33050	0.178000|0.178000	0.19917|0.19917	-1.387000|-1.387000	0.01160|0.01160	GAC|CGA		0.383	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
TNFRSF13B	23495	broad.mit.edu	37	17	16843751	16843751	+	Missense_Mutation	SNP	C	C	T	rs375396272		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:16843751C>T	ENST00000261652.2	-	4	532	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.V128I|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.V128I|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	174					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.V174I(2)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CAGCAGAGGACGGCACACAGG	0.652									IgA Deficiency, Selective																												p.V174I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G520A	17						.						61.0	53.0	56.0					17																	16843751		2203	4300	6503	16784476	SO:0001583	missense	23495	exon4	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.520G>A	17.37:g.16843751C>T	ENSP00000261652:p.Val174Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16784476	NM_012452	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	3.102	-0.184580	0.06340	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.92348	-3.02;-2.98	3.43	0.185	0.15096	.	0.624637	0.14235	N	0.332459	T	0.68842	0.3045	N	0.00869	-1.13	0.20403	N	0.999906	B;B	0.16166	0.007;0.016	B;B	0.10450	0.005;0.002	T	0.64330	-0.6433	10	0.02654	T	1	-20.8352	5.9454	0.19215	0.0:0.5815:0.0:0.4185	.	128;174	O14836-2;O14836	.;TR13B_HUMAN	I	128;174	ENSP00000413453:V128I;ENSP00000261652:V174I	ENSP00000261652:V174I	V	-	1	0	TNFRSF13B	16784476	0.000000	0.05858	0.758000	0.31321	0.017000	0.09413	-0.807000	0.04520	-0.026000	0.13895	-0.482000	0.04802	GTC		0.652	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2		
MED9	55090	broad.mit.edu	37	17	17394792	17394792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:17394792G>A	ENST00000268711.3	+	2	480	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	142						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E142K(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGCATGTTCGAAATCCCCAA	0.572																																					p.E142K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	17						.						55.0	57.0	56.0					17																	17394792		2203	4300	6503	17335517	SO:0001583	missense	55090	exon2			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.424G>A	17.37:g.17394792G>A	ENSP00000268711:p.Glu142Lys	Somatic		Capture	Illumina HiSeq	Phase_I	17335517	NM_018019		Missense_Mutation	SNP	ENST00000268711.3	37	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375308	0.95923	.	.	ENSG00000141026	ENST00000268711	.	.	.	4.56	4.56	0.56223	.	0.054307	0.64402	D	0.000001	T	0.63686	0.2532	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	P	0.55222	0.771	T	0.68322	-0.5439	9	0.72032	D	0.01	-25.7108	16.4909	0.84200	0.0:0.0:1.0:0.0	.	142	Q9NWA0	MED9_HUMAN	K	142	.	ENSP00000268711:E142K	E	+	1	0	MED9	17335517	1.000000	0.71417	0.933000	0.37362	0.986000	0.74619	9.322000	0.96357	2.371000	0.80710	0.655000	0.94253	GAA		0.572	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019	
MYO15A	51168	broad.mit.edu	37	17	18060538	18060538	+	Missense_Mutation	SNP	G	G	A	rs539109194		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:18060538G>A	ENST00000205890.5	+	50	9120	c.8782G>A	c.(8782-8784)Gac>Aac	p.D2928N	MYO15A_ENST00000418233.3_Missense_Mutation_p.D192N|MYO15A_ENST00000451725.2_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2928	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D2928N(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TAGAGGCCCCGACTTTGGTGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		16587	0.0		0.0	False		,,,				2504	0.001				p.D2928N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8782A	17						.						31.0	41.0	37.0					17																	18060538		2024	4187	6211	18001263	SO:0001583	missense	51168	exon49			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8782G>A	17.37:g.18060538G>A	ENSP00000205890:p.Asp2928Asn	Somatic		Capture	Illumina HiSeq	Phase_I	18001263	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555348	0.45487	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	T	0.09445	2.98	5.21	5.21	0.72293	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	T	0.28267	0.0698	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.83275	0.996;0.886;0.985	T	0.01090	-1.1455	9	0.72032	D	0.01	.	18.755	0.91828	0.0:0.0:1.0:0.0	.	127;192;2928	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	N	2928;127	ENSP00000205890:D2928N	ENSP00000205890:D2928N	D	+	1	0	MYO15A	18001263	1.000000	0.71417	0.969000	0.41365	0.034000	0.12701	9.328000	0.96403	2.438000	0.82558	0.561000	0.74099	GAC		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
FBXW10	10517	broad.mit.edu	37	17	18647743	18647743	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:18647743G>T	ENST00000395665.4	+	1	407	c.186G>T	c.(184-186)aaG>aaT	p.K62N	FBXW10_ENST00000308799.4_Missense_Mutation_p.K62N|FBXW10_ENST00000301938.4_Missense_Mutation_p.K62N|FBXW10_ENST00000395667.1_Missense_Mutation_p.K62N			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	62								p.K62N(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCATTCTGAAGCAGTTAAATA	0.418																																					p.K62N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G186T	17						.						84.0	88.0	86.0					17																	18647743		2200	4278	6478	18588468	SO:0001583	missense	10517	exon1			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.186G>T	17.37:g.18647743G>T	ENSP00000379025:p.Lys62Asn	Somatic		Capture	Illumina HiSeq	Phase_I	18588468	NM_031456	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	g	5.367	0.252933	0.10185	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	3.31	3.31	0.37934	.	0.902091	0.09453	U	0.800077	T	0.22126	0.0533	L	0.40543	1.245	0.09310	N	1	B;P;B;B	0.37276	0.358;0.589;0.244;0.358	B;B;B;B	0.33454	0.117;0.164;0.055;0.117	T	0.11567	-1.0582	10	0.45353	T	0.12	.	12.1683	0.54144	0.0:0.0:1.0:0.0	.	62;62;62;62	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	N	62	ENSP00000379026:K62N;ENSP00000310382:K62N;ENSP00000306937:K62N;ENSP00000379025:K62N	ENSP00000306937:K62N	K	+	3	2	FBXW10	18588468	0.906000	0.30813	0.164000	0.22755	0.639000	0.38242	0.802000	0.27069	1.667000	0.50832	0.405000	0.27470	AAG		0.418	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
PRPSAP2	5636	broad.mit.edu	37	17	18827294	18827294	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:18827294C>T	ENST00000268835.2	+	10	1084	c.801C>T	c.(799-801)atC>atT	p.I267I	PRPSAP2_ENST00000542013.1_Silent_p.I267I|PRPSAP2_ENST00000419071.2_Silent_p.I227I|PRPSAP2_ENST00000536323.1_Silent_p.I181I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	267					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.I267I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TTGCCATCATCGTGGTATGTA	0.378																																					p.I267I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C801T	17						.						109.0	100.0	103.0					17																	18827294		2203	4300	6503	18768019	SO:0001819	synonymous_variant	5636	exon10			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.801C>T	17.37:g.18827294C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18768019	NM_002767	B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Silent	SNP	ENST00000268835.2	37	CCDS11200.1																																																																																				0.378	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767	
SLC5A10	125206	broad.mit.edu	37	17	18863863	18863863	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:18863863C>T	ENST00000395645.3	+	5	369	c.351C>T	c.(349-351)atC>atT	p.I117I	SLC5A10_ENST00000395643.2_Silent_p.I117I|SLC5A10_ENST00000395647.2_Silent_p.I117I|SLC5A10_ENST00000317977.6_Silent_p.I61I|SLC5A10_ENST00000395642.1_Silent_p.I61I|SLC5A10_ENST00000417251.2_Silent_p.I117I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	117					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I117I(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTTCCCAGATCGTCACCTTAC	0.582											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I117I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C351T	17						.						192.0	163.0	173.0					17																	18863863		2203	4300	6503	18804588	SO:0001819	synonymous_variant	125206	exon5				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.351C>T	17.37:g.18863863C>T		Somatic	728	Capture	Illumina HiSeq	Phase_I	18804588	NM_152351	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.582	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
RNF112	7732	broad.mit.edu	37	17	19318129	19318129	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:19318129A>C	ENST00000461366.1	+	10	1270	c.1055A>C	c.(1054-1056)aAg>aCg	p.K352T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	352	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.K352T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGCAAGGGAAGCGAGCCCGT	0.612																																					p.S352R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1054C	17						.						42.0	52.0	49.0					17																	19318129		2159	4255	6414	19258721	SO:0001583	missense	7732	exon10			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1055A>C	17.37:g.19318129A>C	ENSP00000454919:p.Lys352Thr	Somatic		Capture	Illumina HiSeq	Phase_I	19258721	NM_007148	O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	CCDS58529.1																																																																																				0.612	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148	
SLC47A1	55244	broad.mit.edu	37	17	19437334	19437334	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:19437334C>A	ENST00000270570.4	+	1	168	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SLC47A1_ENST00000395585.1_Missense_Mutation_p.L28M|SLC47A1_ENST00000575023.1_Missense_Mutation_p.L28M|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L28M|SLC47A1_ENST00000584348.1_Intron|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L28M|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000542886.1_Missense_Mutation_p.L28M	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	28					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.L28M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CTGCTTGCGGCTGTCCGCCTT	0.726																																					p.L28M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82A	17						.						6.0	7.0	7.0					17																	19437334		2108	4114	6222	19377926	SO:0001583	missense	55244	exon1				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.82C>A	17.37:g.19437334C>A	ENSP00000270570:p.Leu28Met	Somatic		Capture	Illumina HiSeq	Phase_I	19377926	NM_018242	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452520	0.43531	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T	0.33865	1.4;1.41;1.39;1.39	3.8	-2.73	0.05950	.	0.300219	0.31221	N	0.008036	T	0.28764	0.0713	N	0.19112	0.55	0.09310	N	1	P;D;P;P	0.63880	0.943;0.993;0.731;0.941	P;P;B;P	0.58970	0.553;0.758;0.336;0.849	T	0.24404	-1.0161	10	0.32370	T	0.25	-14.5599	5.7094	0.17927	0.0:0.3134:0.4796:0.207	.	28;28;28;28	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	M	28	ENSP00000407155:L28M;ENSP00000270570:L28M;ENSP00000415586:L28M;ENSP00000378951:L28M	ENSP00000270570:L28M	L	+	1	2	SLC47A1	19377926	0.001000	0.12720	0.001000	0.08648	0.084000	0.17831	-0.618000	0.05578	-0.178000	0.10672	0.456000	0.33151	CTG		0.726	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	
SLC47A1	55244	broad.mit.edu	37	17	19470442	19470442	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:19470442A>C	ENST00000270570.4	+	14	1296	c.1210A>C	c.(1210-1212)Aat>Cat	p.N404H	SLC47A1_ENST00000395585.1_Missense_Mutation_p.N404H|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N381H|SLC47A1_ENST00000457293.1_Missense_Mutation_p.N404H|SLC47A1_ENST00000571335.1_Missense_Mutation_p.N209H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	404					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.N404H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GGGGAGTGGAAATCAGAAGGT	0.542																																					p.N404H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1210C	17						.						327.0	262.0	284.0					17																	19470442		2203	4300	6503	19411034	SO:0001583	missense	55244	exon14				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1210A>C	17.37:g.19470442A>C	ENSP00000270570:p.Asn404His	Somatic		Capture	Illumina HiSeq	Phase_I	19411034	NM_018242	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620134	0.66787	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.03	3.95	0.45737	.	0.199647	0.50627	D	0.000103	T	0.45577	0.1349	L	0.55103	1.725	0.80722	D	1	B;D;B;D;D	0.63046	0.148;0.992;0.164;0.99;0.988	B;D;B;D;D	0.67231	0.034;0.927;0.27;0.95;0.916	T	0.29027	-1.0025	10	0.49607	T	0.09	-2.5508	9.5205	0.39131	0.9153:0.0:0.0847:0.0	.	138;381;138;404;404	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	H	381;404;404;404;138;116	ENSP00000407155:N381H;ENSP00000270570:N404H;ENSP00000415586:N404H;ENSP00000378951:N404H	ENSP00000270570:N404H	N	+	1	0	SLC47A1	19411034	0.991000	0.36638	0.355000	0.25773	0.954000	0.61252	5.362000	0.66098	0.767000	0.33267	0.533000	0.62120	AAT		0.542	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	
SMG6	23293	broad.mit.edu	37	17	2203646	2203646	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:2203646A>T	ENST00000263073.6	-	2	451	c.401T>A	c.(400-402)aTt>aAt	p.I134N	SMG6_ENST00000544865.1_Missense_Mutation_p.I103N	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	134	EJC-binding motif 2; mediates interaction with the EJC.|Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.I134N(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTTTTGATAATTTTTAGACT	0.463																																					p.I103N	Melanoma(59;28 1088 11621 25887 46638 50814)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T308A	17						.						127.0	141.0	137.0					17																	2203646		2203	4300	6503	2150396	SO:0001583	missense	23293	exon2			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.401T>A	17.37:g.2203646A>T	ENSP00000263073:p.Ile134Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2150396	NM_001170957	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781869	0.31502	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.08807	3.08;3.05	5.6	5.6	0.85130	.	0.684047	0.15559	N	0.256058	T	0.07413	0.0187	L	0.29908	0.895	0.34201	D	0.673166	B	0.34103	0.437	B	0.32289	0.143	T	0.23868	-1.0176	10	0.45353	T	0.12	-2.2665	10.4725	0.44646	0.9184:0.0:0.0816:0.0	.	134	Q86US8	EST1A_HUMAN	N	134;103	ENSP00000263073:I134N;ENSP00000443920:I103N	ENSP00000263073:I134N	I	-	2	0	SMG6	2150396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.870000	0.39529	2.115000	0.64714	0.533000	0.62120	ATT		0.463	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
SGSM2	9905	broad.mit.edu	37	17	2267890	2267890	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:2267890C>T	ENST00000426855.2	+	9	1108	c.933C>T	c.(931-933)agC>agT	p.S311S	SGSM2_ENST00000268989.3_Splice_Site_p.S311S|SGSM2_ENST00000574563.1_Splice_Site_p.S311S	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	311					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S311S(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCCTTTCTAGCGTTTACTGGG	0.572																																					p.S311S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	17						.						202.0	169.0	180.0					17																	2267890		2203	4300	6503	2214640	SO:0001630	splice_region_variant	9905	exon9			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.933-1C>T	17.37:g.2267890C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2214640	NM_001098509	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																				0.572	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853	Silent
METTL16	79066	broad.mit.edu	37	17	2367631	2367631	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:2367631C>T	ENST00000263092.6	-	6	726	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	200							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R200Q(4)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCGAGGATTTCGTGAGTTTAC	0.393																																					p.R200Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G599A	17						.						112.0	99.0	103.0					17																	2367631		1841	4083	5924	2314381	SO:0001583	missense	79066	exon6			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.599G>A	17.37:g.2367631C>T	ENSP00000263092:p.Arg200Gln	Somatic		Capture	Illumina HiSeq	Phase_I	2314381	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624875	0.96660	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.50277	0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.964;0.994	T	0.79135	-0.1928	10	0.87932	D	0	.	17.3068	0.87197	0.0:1.0:0.0:0.0	.	200;200	Q86W50-2;Q86W50	.;MET16_HUMAN	Q	200	ENSP00000263092:R200Q	ENSP00000263092:R200Q	R	-	2	0	METTL16	2314381	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.770000	0.85390	2.683000	0.91414	0.591000	0.81541	CGA		0.393	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
MAP2K3	5606	broad.mit.edu	37	17	21216820	21216820	+	Missense_Mutation	SNP	G	G	T	rs55740804	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:21216820G>T	ENST00000342679.4	+	11	1180	c.931G>T	c.(931-933)Gca>Tca	p.A311S	MAP2K3_ENST00000316920.6_Missense_Mutation_p.A282S|MAP2K3_ENST00000361818.5_Missense_Mutation_p.A282S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A315S(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAAGAACCCCGCAGAGCGTAT	0.652																																					p.A282S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844T	17						.						64.0	56.0	59.0					17																	21216820		2203	4300	6503	21157413	SO:0001583	missense	5606	exon11			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.931G>T	17.37:g.21216820G>T	ENSP00000345083:p.Ala311Ser	Somatic		Capture	Illumina HiSeq	Phase_I	21157413	NM_002756	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	5.597	0.294950	0.10622	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.65364	-0.15;-0.15	5.21	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169215	0.39759	N	0.001272	T	0.32941	0.0846	N	0.03177	-0.4	0.19775	N	0.999951	B	0.17268	0.021	B	0.13407	0.009	T	0.17258	-1.0375	10	0.08599	T	0.76	-22.417	9.8018	0.40768	0.1562:0.0:0.8438:0.0	.	311	P46734	MP2K3_HUMAN	S	311;282;282;315	ENSP00000345083:A311S;ENSP00000355081:A282S	ENSP00000319139:A315S	A	+	1	0	MAP2K3	21157413	0.005000	0.15991	0.090000	0.20809	0.789000	0.44602	1.668000	0.37481	1.184000	0.42957	0.655000	0.94253	GCA		0.652	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
SLC46A1	113235	broad.mit.edu	37	17	26722980	26722980	+	3'UTR	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:26722980C>T	ENST00000440501.1	-	0	5167				SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR|SARM1_ENST00000457710.3_Silent_p.F626F|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)	p.F658F(1)		lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	TTGATGGCTTCGAGTGGCCTG	0.557																																					p.R660X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1978T	17						.						97.0	90.0	92.0					17																	26722980		2203	4300	6503	23747107	SO:0001624	3_prime_UTR_variant	23098	exon8			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3692G>A	17.37:g.26722980C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23747107	NM_015077	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37																																																																																					0.557	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669	
PIPOX	51268	broad.mit.edu	37	17	27380577	27380577	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:27380577G>T	ENST00000323372.4	+	4	950	c.624G>T	c.(622-624)caG>caT	p.Q208H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	208					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)	p.Q208H(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGACCAACCAGCTCCTCCGTC	0.557																																					p.Q208H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G624T	17						.						84.0	78.0	80.0					17																	27380577		2203	4300	6503	24404703	SO:0001583	missense	51268	exon4			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.624G>T	17.37:g.27380577G>T	ENSP00000317721:p.Gln208His	Somatic		Capture	Illumina HiSeq	Phase_I	24404703	NM_016518	B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195899	0.38806	.	.	ENSG00000179761	ENST00000323372	D	0.81996	-1.56	5.77	-0.174	0.13319	FAD dependent oxidoreductase (1);	0.717773	0.13985	N	0.349220	T	0.76891	0.4051	L	0.31294	0.92	0.09310	N	1	P	0.34892	0.474	P	0.48227	0.571	T	0.67538	-0.5645	10	0.56958	D	0.05	-21.1284	2.1411	0.03775	0.2074:0.2428:0.4248:0.1249	.	208	Q9P0Z9	SOX_HUMAN	H	208	ENSP00000317721:Q208H	ENSP00000317721:Q208H	Q	+	3	2	PIPOX	24404703	0.000000	0.05858	0.172000	0.22920	0.965000	0.64279	0.502000	0.22594	0.130000	0.18549	-0.182000	0.12963	CAG		0.557	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
GIT1	28964	broad.mit.edu	37	17	27905784	27905784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:27905784C>T	ENST00000225394.3	-	8	1023	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	GIT1_ENST00000579937.1_Missense_Mutation_p.E259K|GIT1_ENST00000581348.1_Missense_Mutation_p.E268K|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.E268K	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	259	ARHGEF6-binding. {ECO:0000250}.|PTK2/FAK1-binding. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.E259K(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTGGCCAATTCGGATAAGTCA	0.587																																					p.E259K	Colon(81;41 1719 20078 35068)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	17						.						135.0	134.0	135.0					17																	27905784		2203	4300	6503	24929910	SO:0001583	missense	28964	exon8			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.775G>A	17.37:g.27905784C>T	ENSP00000225394:p.Glu259Lys	Somatic		Capture	Illumina HiSeq	Phase_I	24929910	NM_014030	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212189	0.95069	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.72394	-0.26;-0.65	4.84	4.84	0.62591	.	0.108696	0.64402	D	0.000014	D	0.83663	0.5303	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.73708	0.952;0.981;0.957;0.957	D	0.84399	0.0559	10	0.49607	T	0.09	.	15.1514	0.72703	0.0:1.0:0.0:0.0	.	272;268;268;259	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	K	259;268	ENSP00000225394:E259K;ENSP00000378338:E268K	ENSP00000225394:E259K	E	-	1	0	GIT1	24929910	1.000000	0.71417	0.934000	0.37439	0.918000	0.54935	6.957000	0.76019	2.688000	0.91661	0.561000	0.74099	GAA		0.587	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	
PAFAH1B1	5048	broad.mit.edu	37	17	2573488	2573488	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:2573488G>A	ENST00000397195.5	+	6	882	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_5'Flank	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)									p.R144Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GATTTTGAACGAACTCTTAAA	0.423																																					p.R144Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	17						.						185.0	180.0	182.0					17																	2573488		2203	4300	6503	2520238	SO:0001583	missense	5048	exon6			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.431G>A	17.37:g.2573488G>A	ENSP00000380378:p.Arg144Gln	Somatic		Capture	Illumina HiSeq	Phase_I	2520238	NM_000430		Missense_Mutation	SNP	ENST00000397195.5	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806310	0.90623	.	.	ENSG00000007168	ENST00000397195	T	0.59906	0.23	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.31157	0.91	0.80722	D	1	D	0.57257	0.979	B	0.41440	0.357	T	0.40646	-0.9552	10	0.25106	T	0.35	.	19.2458	0.93902	0.0:0.0:1.0:0.0	.	144	P43034	LIS1_HUMAN	Q	144	ENSP00000380378:R144Q	ENSP00000380378:R144Q	R	+	2	0	PAFAH1B1	2520238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.783000	0.95769	0.655000	0.94253	CGA		0.423	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430	
CORO6	84940	broad.mit.edu	37	17	27945838	27945838	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:27945838G>T	ENST00000445145.2	-	4	604	c.603C>A	c.(601-603)atC>atA	p.I201I	CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Silent_p.I201I|CORO6_ENST00000388767.3_Silent_p.I201I|CORO6_ENST00000580212.1_Silent_p.I201I|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000345068.5_Silent_p.I201I|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	201					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.I201I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGGGTCAATGATGCGCAAGG	0.592																																					p.I201I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603A	17						.						69.0	70.0	70.0					17																	27945838		2123	4229	6352	24969964	SO:0001819	synonymous_variant	84940	exon4			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.603C>A	17.37:g.27945838G>T		Somatic		Capture	Illumina HiSeq	Phase_I	24969964	NM_032854	B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37																																																																																					0.592	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	
OMG	4974	broad.mit.edu	37	17	29622745	29622745	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:29622745T>G	ENST00000247271.4	-	2	866	c.605A>C	c.(604-606)aAg>aCg	p.K202T	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	202					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)|p.K202T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GAATGTGAACTTATTGTTGTG	0.363																																					p.K202T												.	.	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|large_intestine(1)|central_nervous_system(1)	c.A605C	17						.						198.0	200.0	199.0					17																	29622745		2203	4300	6503	26646871	SO:0001583	missense	4974	exon2				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.605A>C	17.37:g.29622745T>G	ENSP00000247271:p.Lys202Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26646871	NM_002544	E1P659	Missense_Mutation	SNP	ENST00000247271.4	37	CCDS11265.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877645	0.51801	.	.	ENSG00000126861	ENST00000247271	T	0.58940	0.3	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.72574	0.3477	M	0.75150	2.29	0.46521	D	0.999088	D	0.67145	0.996	D	0.67382	0.951	T	0.75811	-0.3186	10	0.72032	D	0.01	-7.9857	10.6373	0.45573	0.0:0.0715:0.0:0.9285	.	202	P23515	OMGP_HUMAN	T	202	ENSP00000247271:K202T	ENSP00000247271:K202T	K	-	2	0	OMG	26646871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.379000	0.59575	2.320000	0.78422	0.528000	0.53228	AAG		0.363	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544	
OR1G1	8390	broad.mit.edu	37	17	3030644	3030644	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:3030644G>T	ENST00000328890.2	-	1	231	c.202C>A	c.(202-204)Ctt>Att	p.L68I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	68					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68I(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GCATCTGCAAGGGAGAGGTTG	0.498																																					p.L68I	Colon(127;1481 1654 8243 19426 50557)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202A	17						.						103.0	91.0	95.0					17																	3030644		2203	4300	6503	2977394	SO:0001583	missense	8390	exon1			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.202C>A	17.37:g.3030644G>T	ENSP00000331545:p.Leu68Ile	Somatic		Capture	Illumina HiSeq	Phase_I	2977394	NM_003555	Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919865	0.33908	.	.	ENSG00000183024	ENST00000328890	T	0.00557	6.62	4.4	-4.37	0.03633	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	L	0.48362	1.52	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.35674	-0.9779	9	0.72032	D	0.01	.	12.5778	0.56373	0.7042:0.0:0.2958:0.0	.	68	P47890	OR1G1_HUMAN	I	68	ENSP00000331545:L68I	ENSP00000331545:L68I	L	-	1	0	OR1G1	2977394	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	-0.618000	0.05578	-0.685000	0.05177	0.530000	0.56133	CTT		0.498	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2		
COPRS	55352	broad.mit.edu	37	17	30179881	30179881	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:30179881A>T	ENST00000302362.6	-	3	472	c.335T>A	c.(334-336)tTt>tAt	p.F112Y	COPRS_ENST00000378634.2_Missense_Mutation_p.F100Y	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	112					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)	p.F112Y(1)									GTCCTCATTAAAAAGATCGCC	0.522																																					p.F112Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T335A	17						.						179.0	184.0	182.0					17																	30179881		2203	4300	6503	27203994	SO:0001583	missense	55352	exon3			AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.335T>A	17.37:g.30179881A>T	ENSP00000304327:p.Phe112Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27203994	NM_018405	A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138308	0.77775	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.48201	0.82;0.82	5.37	3.0	0.34707	.	0.378221	0.22871	N	0.054628	T	0.35508	0.0934	L	0.32530	0.975	0.09310	N	1	P	0.46912	0.886	P	0.47346	0.544	T	0.09662	-1.0664	10	0.26408	T	0.33	-5.3289	3.302	0.06987	0.6143:0.2419:0.1438:0.0	.	112	Q9NQ92	COPR5_HUMAN	Y	112;100	ENSP00000304327:F112Y;ENSP00000367901:F100Y	ENSP00000304327:F112Y	F	-	2	0	C17orf79	27203994	0.930000	0.31532	0.160000	0.22671	0.365000	0.29674	1.451000	0.35145	0.836000	0.34901	0.383000	0.25322	TTT		0.522	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405	
OR1A1	8383	broad.mit.edu	37	17	3119249	3119249	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:3119249G>A	ENST00000304094.1	+	1	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S112N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AACACAGACAGCTATATTTTG	0.473																																					p.S112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	17						.						129.0	112.0	118.0					17																	3119249		2203	4300	6503	3065999	SO:0001583	missense	8383	exon1			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.335G>A	17.37:g.3119249G>A	ENSP00000305207:p.Ser112Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3065999	NM_014565	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	6.536	0.467212	0.12402	.	.	ENSG00000172146	ENST00000304094	T	0.00344	8.02	4.96	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.00109	0.0003	N	0.16098	0.37	0.09310	N	1	B	0.19200	0.034	B	0.19391	0.025	T	0.37572	-0.9700	10	0.02654	T	1	.	4.835	0.13460	0.2461:0.1634:0.5905:0.0	.	112	Q9P1Q5	OR1A1_HUMAN	N	112	ENSP00000305207:S112N	ENSP00000305207:S112N	S	+	2	0	OR1A1	3065999	0.000000	0.05858	0.995000	0.50966	0.920000	0.55202	-1.029000	0.03585	1.332000	0.45431	0.436000	0.28706	AGC		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565	
NLE1	54475	broad.mit.edu	37	17	33466892	33466892	+	Missense_Mutation	SNP	G	G	T	rs34551522		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:33466892G>T	ENST00000442241.4	-	3	395	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	NLE1_ENST00000586869.1_De_novo_Start_OutOfFrame|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.S119Y	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	119					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S119Y(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GAAGGCCACAGAAATGACTGC	0.572																																					p.S119Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356A	17						.						96.0	82.0	87.0					17																	33466892		2203	4300	6503	30491005	SO:0001583	missense	54475	exon3				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.356C>A	17.37:g.33466892G>T	ENSP00000413572:p.Ser119Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30491005	NM_018096	O60868|Q59GJ8|Q9BU54	De_novo_Start_OutOfFrame	SNP	ENST00000442241.4	37	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000309	0.74818	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.65916	-0.18	4.72	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82598	-0.0378	10	0.87932	D	0	-8.8203	15.5591	0.76223	0.0:0.0:1.0:0.0	.	119	Q9NVX2	NLE1_HUMAN	Y	119	ENSP00000413572:S119Y	ENSP00000413572:S119Y	S	-	2	0	NLE1	30491005	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	9.091000	0.94151	2.626000	0.88956	0.650000	0.86243	TCT		0.572	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	
SLFN11	91607	broad.mit.edu	37	17	33679748	33679748	+	Missense_Mutation	SNP	C	C	T	rs541914273	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:33679748C>T	ENST00000394566.1	-	7	2605	c.2333G>A	c.(2332-2334)cGa>cAa	p.R778Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.R778Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	778					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R778Q(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTCTTAATTCGTAAGGTTCC	0.463																																					p.R778Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2333A	17						.						63.0	61.0	61.0					17																	33679748		2203	4300	6503	30703861	SO:0001583	missense	91607	exon6			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2333G>A	17.37:g.33679748C>T	ENSP00000378067:p.Arg778Gln	Somatic		Capture	Illumina HiSeq	Phase_I	30703861	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	10.93	1.490227	0.26686	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81908	-1.55;-1.55	4.0	1.7	0.24286	.	1.084220	0.07144	N	0.847815	T	0.65811	0.2727	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53844	-0.8381	10	0.49607	T	0.09	.	4.3079	0.10956	0.0:0.1089:0.2022:0.6889	.	778	Q7Z7L1	SLN11_HUMAN	Q	778	ENSP00000312402:R778Q;ENSP00000378067:R778Q	ENSP00000312402:R778Q	R	-	2	0	SLFN11	30703861	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.335000	0.07873	0.191000	0.20236	-1.235000	0.01560	CGA		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN11	91607	broad.mit.edu	37	17	33690352	33690352	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:33690352T>G	ENST00000394566.1	-	4	747	c.475A>C	c.(475-477)Aaa>Caa	p.K159Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.K159Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	159					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.K159Q(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCAAGATTTTTGGCTTCCTT	0.468																																					p.K159Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A475C	17						.						95.0	98.0	97.0					17																	33690352		2203	4300	6503	30714465	SO:0001583	missense	91607	exon3			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.475A>C	17.37:g.33690352T>G	ENSP00000378067:p.Lys159Gln	Somatic		Capture	Illumina HiSeq	Phase_I	30714465	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	T	8.669	0.902413	0.17760	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02015	4.5;4.5	4.11	-4.86	0.03132	.	2.478180	0.02140	N	0.057096	T	0.02688	0.0081	L	0.37800	1.135	0.09310	N	1	P	0.51653	0.947	B	0.42282	0.382	T	0.46735	-0.9170	10	0.19147	T	0.46	.	12.8158	0.57665	0.0:0.6606:0.0:0.3394	.	159	Q7Z7L1	SLN11_HUMAN	Q	159	ENSP00000312402:K159Q;ENSP00000378067:K159Q	ENSP00000312402:K159Q	K	-	1	0	SLFN11	30714465	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.943000	0.01539	-1.031000	0.03308	0.533000	0.62120	AAA		0.468	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN13	146857	broad.mit.edu	37	17	33768060	33768060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:33768060C>A	ENST00000285013.6	-	6	2523	c.2248G>T	c.(2248-2250)Gaa>Taa	p.E750*	SLFN13_ENST00000534689.1_Nonsense_Mutation_p.E432*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.E750*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.E432*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.E750*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.E750*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	750						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.E750*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGAGGATTTTCTATAATTAGT	0.408																																					p.E750X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2248T	17						.						107.0	117.0	114.0					17																	33768060		2203	4300	6503	30792173	SO:0001587	stop_gained	146857	exon6			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2248G>T	17.37:g.33768060C>A	ENSP00000285013:p.Glu750*	Somatic		Capture	Illumina HiSeq	Phase_I	30792173	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Nonsense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	35	5.427203	0.96131	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	.	.	.	3.41	-6.82	0.01698	.	3.461880	0.00839	N	0.001735	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	14.6398	0.68714	0.0:0.761:0.0:0.239	.	.	.	.	X	750;432;750;750;432	.	ENSP00000285013:E750X	E	-	1	0	SLFN13	30792173	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.071000	0.00618	-1.667000	0.01473	-0.481000	0.04817	GAA		0.408	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
SLFN13	146857	broad.mit.edu	37	17	33772235	33772235	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:33772235C>A	ENST00000285013.6	-	3	740	c.465G>T	c.(463-465)aaG>aaT	p.K155N	SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.K155N|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.K155N|SLFN13_ENST00000542635.1_Missense_Mutation_p.K155N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	155						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.K155N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTCCTTGGTCTTCAGGAAAT	0.393																																					p.K155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G465T	17						.						77.0	81.0	80.0					17																	33772235		2203	4300	6503	30796348	SO:0001583	missense	146857	exon3			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.465G>T	17.37:g.33772235C>A	ENSP00000285013:p.Lys155Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30796348	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	C	9.012	0.982630	0.18889	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.02446	4.29;4.29;4.29	3.39	-1.8	0.07907	.	0.373188	0.19522	N	0.112257	T	0.03011	0.0089	L	0.52573	1.65	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34725	-0.9817	10	0.62326	D	0.03	.	7.4724	0.27357	0.0:0.6193:0.0:0.3807	.	155	Q68D06	SLN13_HUMAN	N	155	ENSP00000285013:K155N;ENSP00000434439:K155N;ENSP00000444016:K155N	ENSP00000285013:K155N	K	-	3	2	SLFN13	30796348	0.001000	0.12720	0.019000	0.16419	0.015000	0.08874	0.141000	0.16076	-0.222000	0.09958	-0.346000	0.07831	AAG		0.393	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
PEX12	5193	broad.mit.edu	37	17	33903068	33903068	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:33903068T>G	ENST00000225873.4	-	3	1420	c.813A>C	c.(811-813)gaA>gaC	p.E271D	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	271					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.E271D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTTGATGGTTTCTTGATTTT	0.478																																					p.E271D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A813C	17						.						179.0	146.0	157.0					17																	33903068		2203	4300	6503	30927181	SO:0001583	missense	5193	exon3			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.813A>C	17.37:g.33903068T>G	ENSP00000225873:p.Glu271Asp	Somatic		Capture	Illumina HiSeq	Phase_I	30927181	NM_000286	B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930745	0.34096	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84873	-1.91	5.04	3.94	0.45596	.	0.346964	0.35378	N	0.003246	T	0.75339	0.3836	L	0.40543	1.245	0.41524	D	0.988419	B	0.17268	0.021	B	0.14578	0.011	T	0.64659	-0.6355	10	0.15952	T	0.53	-13.7722	7.635	0.28261	0.0:0.2392:0.0:0.7608	.	271	O00623	PEX12_HUMAN	D	271	ENSP00000225873:E271D	ENSP00000225873:E271D	E	-	3	2	PEX12	30927181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.170000	0.42443	0.901000	0.36495	0.533000	0.62120	GAA		0.478	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	
CCL4	6351	broad.mit.edu	37	17	34431361	34431361	+	Silent	SNP	G	G	A	rs1130755		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:34431361G>A	ENST00000250151.4	+	1	379	c.63G>A	c.(61-63)gcG>gcA	p.A21A	CCL4_ENST00000394495.1_Silent_p.A21A	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	21					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)	p.A21A(1)		endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTCTCCAGCGCTCTCAGCAC	0.502																																					p.A21A	Colon(139;824 1752 21188 21615 24765)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G63A	17						.						455.0	415.0	428.0					17																	34431361		2203	4300	6503	31455474	SO:0001819	synonymous_variant	6351	exon1			M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"""Chemokine ligands"", ""Endogenous ligands"""	10630	protein-coding gene	gene with protein product		182284	"""small inducible cytokine A4 (homologous to mouse Mip-1b)"""	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.63G>A	17.37:g.34431361G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31455474	NM_002984	P22617|Q13704|Q3SXL8|Q6FGI8	Silent	SNP	ENST00000250151.4	37	CCDS11308.1																																																																																				0.502	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984	
PIGW	284098	broad.mit.edu	37	17	34894188	34894188	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:34894188T>G	ENST00000592983.1	+	2	1818	c.1238T>G	c.(1237-1239)cTt>cGt	p.L413R	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.L413R			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	413					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.L413R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTTGGAAACTTATCCAGTCA	0.363																																					p.L413R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1238G	17						.						77.0	81.0	80.0					17																	34894188		2203	4300	6503	31968301	SO:0001583	missense	284098	exon2			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1238T>G	17.37:g.34894188T>G	ENSP00000468778:p.Leu413Arg	Somatic		Capture	Illumina HiSeq	Phase_I	31968301	NM_178517	Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115002	0.37339	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.94	1.17	0.20885	.	0.550983	0.17732	N	0.163857	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	P	0.46784	0.884	P	0.53006	0.715	T	0.10894	-1.0610	8	.	.	.	-2.4047	5.5234	0.16945	0.1167:0.28:0.0:0.6033	.	413	Q7Z7B1	PIGW_HUMAN	R	413	.	.	L	+	2	0	PIGW	31968301	0.216000	0.23585	0.004000	0.12327	0.905000	0.53344	2.016000	0.40971	-0.080000	0.12685	0.459000	0.35465	CTT		0.363	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517	
OR3A3	8392	broad.mit.edu	37	17	3324727	3324727	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:3324727T>C	ENST00000291231.1	+	1	866	c.866T>C	c.(865-867)gTg>gCg	p.V289A		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	289					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V289A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TTCATGACTGTGATCAACCCC	0.507																																					p.V289A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T866C	17						.						117.0	113.0	114.0					17																	3324727		2203	4300	6503	3271477	SO:0001583	missense	8392	exon1			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.866T>C	17.37:g.3324727T>C	ENSP00000291231:p.Val289Ala	Somatic		Capture	Illumina HiSeq	Phase_I	3271477	NM_012373	Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872789	0.33069	.	.	ENSG00000159961	ENST00000291231	T	0.00304	8.19	2.56	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	L	0.55017	1.72	0.25892	N	0.983462	B	0.30686	0.29	B	0.37989	0.262	T	0.19516	-1.0303	9	0.48119	T	0.1	.	7.9513	0.30017	0.0:0.0:0.2091:0.7909	.	289	P47888	OR3A3_HUMAN	A	289	ENSP00000291231:V289A	ENSP00000291231:V289A	V	+	2	0	OR3A3	3271477	0.004000	0.15560	0.017000	0.16124	0.918000	0.54935	1.104000	0.31074	0.352000	0.24053	0.533000	0.62120	GTG		0.507	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1		
ACACA	31	broad.mit.edu	37	17	35631122	35631122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:35631122C>A	ENST00000394406.2	-	9	1049	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	ACACA_ENST00000353139.5_Nonsense_Mutation_p.E324*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.E209*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.E229*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	287	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E229*(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAACCTTTTTCATATAGCTCC	0.413																																					p.E324X	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G970T	17						.						185.0	155.0	166.0					17																	35631122		2203	4300	6503	32705235	SO:0001587	stop_gained	31	exon9			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.859G>T	17.37:g.35631122C>A	ENSP00000377928:p.Glu287*	Somatic		Capture	Illumina HiSeq	Phase_I	32705235	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	40	8.508167	0.98841	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	.	.	.	5.96	4.99	0.66335	.	0.167727	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-13.7698	17.3235	0.87241	0.0:0.8749:0.1251:0.0	.	.	.	.	X	324;229;287;311;209;209	.	ENSP00000335323:E209X	E	-	1	0	ACACA	32705235	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	3.463000	0.53050	1.517000	0.48917	0.650000	0.86243	GAA		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
ACACA	31	broad.mit.edu	37	17	35641791	35641791	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:35641791G>A	ENST00000394406.2	-	4	498	c.308C>T	c.(307-309)gCt>gTt	p.A103V	ACACA_ENST00000353139.5_Missense_Mutation_p.A140V|ACACA_ENST00000335166.5_Missense_Mutation_p.A25V|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.A45V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	103					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A45V(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCTGGAGAAGCCACAGTGAA	0.398																																					p.A140V	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419T	17						.						107.0	112.0	110.0					17																	35641791		2203	4300	6503	32715904	SO:0001583	missense	31	exon4			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.308C>T	17.37:g.35641791G>A	ENSP00000377928:p.Ala103Val	Somatic		Capture	Illumina HiSeq	Phase_I	32715904	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215739	0.95104	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066;ENST00000394403;ENST00000451642;ENST00000413318	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.63	5.63	0.86233	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91260	0.7245	L	0.32530	0.975	0.80722	D	1	P;B;B	0.45283	0.855;0.228;0.338	P;B;B	0.47786	0.557;0.146;0.281	D	0.91916	0.5543	10	0.66056	D	0.02	-12.8283	19.699	0.96045	0.0:0.0:1.0:0.0	.	140;103;45	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	V	140;45;103;127;25;25;25;103;25	ENSP00000344789:A140V;ENSP00000353898:A45V;ENSP00000377928:A103V;ENSP00000335323:A25V	ENSP00000335323:A25V	A	-	2	0	ACACA	32715904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	GCT		0.398	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
ASPA	443	broad.mit.edu	37	17	3392598	3392598	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:3392598T>G	ENST00000263080.2	+	4	754	c.596T>G	c.(595-597)aTt>aGt	p.I199S	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.I199S	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	199					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.I199S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGAAAAATGATTAAACATGCT	0.338																																					p.I199S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T596G	17						.						114.0	120.0	118.0					17																	3392598		2203	4300	6503	3339348	SO:0001583	missense	443	exon4			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.596T>G	17.37:g.3392598T>G	ENSP00000263080:p.Ile199Ser	Somatic		Capture	Illumina HiSeq	Phase_I	3339348	NM_000049		Missense_Mutation	SNP	ENST00000263080.2	37	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	t	27.8	4.863783	0.91511	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.98437	-4.93;-4.93	5.75	5.75	0.90469	.	0.219310	0.46758	D	0.000267	D	0.98473	0.9491	M	0.70595	2.14	0.80722	D	1	P	0.51351	0.944	P	0.58780	0.845	D	0.99486	1.0949	10	0.87932	D	0	-18.322	15.55	0.76141	0.0:0.0:0.0:1.0	.	199	P45381	ACY2_HUMAN	S	199	ENSP00000409976:I199S;ENSP00000263080:I199S	ENSP00000263080:I199S	I	+	2	0	ASPA	3339348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.409000	0.80053	2.333000	0.79357	0.533000	0.62120	ATT		0.338	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	
DDX52	11056	broad.mit.edu	37	17	35981446	35981446	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:35981446T>C	ENST00000349699.2	-	10	1390	c.1347A>G	c.(1345-1347)caA>caG	p.Q449Q	DDX52_ENST00000394367.3_Silent_p.Q341Q	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	449	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.Q449Q(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ACTTTACCTGTTGTTGTGTTC	0.294																																					p.Q449Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1347G	17						.						86.0	81.0	83.0					17																	35981446		2202	4300	6502	33055559	SO:0001819	synonymous_variant	11056	exon10			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1347A>G	17.37:g.35981446T>C		Somatic		Capture	Illumina HiSeq	Phase_I	33055559	NM_007010	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Silent	SNP	ENST00000349699.2	37	CCDS11323.1																																																																																				0.294	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300	
GPR179	440435	broad.mit.edu	37	17	36483526	36483526	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:36483526G>A	ENST00000342292.4	-	11	5946	c.5926C>T	c.(5926-5928)Cgc>Tgc	p.R1976C	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1976					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1976C(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGTCAGGGCGCTGTCTGTCT	0.557																																					p.R1976C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5926T	17						.						62.0	64.0	63.0					17																	36483526		1986	4153	6139	33737052	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5926C>T	17.37:g.36483526G>A	ENSP00000345060:p.Arg1976Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33737052	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569876	0.13560	.	.	ENSG00000188888	ENST00000342292	T	0.49720	0.77	4.45	-8.9	0.00782	.	1.330700	0.04946	N	0.459414	T	0.10551	0.0258	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	10	0.40728	T	0.16	0.1039	4.039	0.09743	0.1838:0.3036:0.4189:0.0936	.	1976	Q6PRD1	GP179_HUMAN	C	1976	ENSP00000345060:R1976C	ENSP00000345060:R1976C	R	-	1	0	GPR179	33737052	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.540000	0.02200	-1.503000	0.01812	-0.448000	0.05591	CGC		0.557	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36486156	36486156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:36486156C>T	ENST00000342292.4	-	11	3316	c.3296G>A	c.(3295-3297)aGc>aAc	p.S1099N	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1099					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1099N(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTAGGTGCTCCGAGAACG	0.617																																					p.S1099N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3296A	17						.						49.0	54.0	52.0					17																	36486156		1985	4144	6129	33739682	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3296G>A	17.37:g.36486156C>T	ENSP00000345060:p.Ser1099Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33739682	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154465	0.57259	.	.	ENSG00000188888	ENST00000342292	T	0.58060	0.36	5.38	5.38	0.77491	.	0.157375	0.49916	D	0.000129	T	0.62792	0.2457	L	0.32530	0.975	0.31556	N	0.658097	D	0.76494	0.999	D	0.75484	0.986	T	0.65360	-0.6187	10	0.52906	T	0.07	-16.9368	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1099	Q6PRD1	GP179_HUMAN	N	1099	ENSP00000345060:S1099N	ENSP00000345060:S1099N	S	-	2	0	GPR179	33739682	0.999000	0.42202	1.000000	0.80357	0.650000	0.38633	1.126000	0.31344	2.804000	0.96469	0.462000	0.41574	AGC		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
SRCIN1	80725	broad.mit.edu	37	17	36708303	36708303	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:36708303G>A	ENST00000264659.7	-	14	2770	c.2546C>T	c.(2545-2547)aCg>aTg	p.T849M	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.T883M	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	721	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.T849M(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGTCTCTGCCGTCACCTTCTT	0.617																																					p.T849M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2546T	17						.						40.0	45.0	43.0					17																	36708303		2011	4152	6163	33961829	SO:0001583	missense	80725	exon14				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2546C>T	17.37:g.36708303G>A	ENSP00000264659:p.Thr849Met	Somatic		Capture	Illumina HiSeq	Phase_I	33961829	NM_025248	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	8.659	0.900122	0.17686	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46063	0.88	4.99	0.725	0.18242	.	0.564752	0.20143	N	0.098323	T	0.32941	0.0846	M	0.65975	2.015	0.09310	N	1	B;B;B;B	0.23058	0.079;0.004;0.004;0.004	B;B;B;B	0.16722	0.016;0.001;0.002;0.001	T	0.28933	-1.0028	10	0.48119	T	0.1	-2.11	2.0611	0.03592	0.2383:0.1346:0.489:0.1382	.	155;721;721;849	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	M	849;630;703	ENSP00000264659:T849M	ENSP00000264659:T849M	T	-	2	0	SRCIN1	33961829	0.823000	0.29233	0.003000	0.11579	0.460000	0.32559	1.827000	0.39102	0.027000	0.15297	-0.254000	0.11334	ACG		0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
CWC25	54883	broad.mit.edu	37	17	36958985	36958985	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:36958985C>T	ENST00000225428.5	-	9	1428	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Silent_p.E314E	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	377								p.E377E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AGTCCAGCTTCTCTAGCCTCT	0.542																																					p.E377E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1131A	17						.						155.0	160.0	159.0					17																	36958985		1996	4167	6163	34212511	SO:0001819	synonymous_variant	54883	exon9			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1131G>A	17.37:g.36958985C>T		Somatic		Capture	Illumina HiSeq	Phase_I	34212511	NM_017748	A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	CCDS45663.1																																																																																				0.542	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748	
ITGAE	3682	broad.mit.edu	37	17	3623687	3623687	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:3623687C>A	ENST00000263087.4	-	29	3345	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	CTD-3195I5.3_ENST00000571741.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1083					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.D1083Y(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCAGTTACATCTTTTAGTAAC	0.388																																					p.D1083Y	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3247T	17						.						87.0	76.0	79.0					17																	3623687		2203	4300	6503	3570436	SO:0001583	missense	3682	exon29			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.3247G>T	17.37:g.3623687C>A	ENSP00000263087:p.Asp1083Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3570436	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120529	0.20877	.	.	ENSG00000083457	ENST00000263087	T	0.43688	0.94	4.74	2.55	0.30701	Integrin alpha-2 (1);	.	.	.	.	T	0.55033	0.1895	M	0.65975	2.015	0.21256	N	0.999747	D	0.71674	0.998	D	0.66847	0.947	T	0.38156	-0.9674	9	0.62326	D	0.03	.	5.0034	0.14275	0.208:0.6849:0.0:0.1071	.	1083	P38570	ITAE_HUMAN	Y	1083	ENSP00000263087:D1083Y	ENSP00000263087:D1083Y	D	-	1	0	ITGAE	3570436	0.233000	0.23772	0.645000	0.29479	0.045000	0.14185	0.528000	0.23002	1.314000	0.45095	0.650000	0.86243	GAT		0.388	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
ERBB2	2064	broad.mit.edu	37	17	37872075	37872075	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:37872075G>A	ENST00000269571.5	+	12	1555	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	ERBB2_ENST00000406381.2_Missense_Mutation_p.A436T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A436T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A190T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A451T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A436T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A466T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A436T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A436T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	466					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.A466T(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGTGGACTGGCCCTCATCCA	0.637		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																											p.A436T			Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306A	17						.						123.0	87.0	99.0					17																	37872075		2203	4300	6503	35125601	SO:0001583	missense	2064	exon15			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1396G>A	17.37:g.37872075G>A	ENSP00000269571:p.Ala466Thr	Somatic		Capture	Illumina HiSeq	Phase_I	35125601	NM_001005862	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001356	0.35320	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.93	5.93	0.95920	EGF receptor, L domain (1);	.	.	.	.	T	0.71837	0.3387	L	0.33485	1.01	0.43503	D	0.995758	B;P;P;B	0.49307	0.423;0.922;0.686;0.26	B;B;B;B	0.40677	0.127;0.337;0.128;0.127	T	0.76383	-0.2979	9	0.87932	D	0	.	19.1152	0.93336	0.0:0.0:1.0:0.0	.	190;436;451;466	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	T	436;451;190;466;436;436	ENSP00000385185:A436T;ENSP00000446466:A451T;ENSP00000404047:A190T;ENSP00000269571:A466T;ENSP00000443562:A436T;ENSP00000446382:A436T	ENSP00000269571:A466T	A	+	1	0	ERBB2	35125601	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	4.159000	0.58157	2.815000	0.96918	0.561000	0.74099	GCC		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
ITGAE	3682	broad.mit.edu	37	17	3664433	3664433	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:3664433C>A	ENST00000263087.4	-	6	570	c.472G>T	c.(472-474)Gac>Tac	p.D158Y		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	158	X-domain (extra domain).				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.D158Y(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTGTAGCAGTCTCCAGTGTCC	0.542																																					p.D158Y	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472T	17						.						196.0	186.0	189.0					17																	3664433		2203	4300	6503	3611182	SO:0001583	missense	3682	exon6			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.472G>T	17.37:g.3664433C>A	ENSP00000263087:p.Asp158Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3611182	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184602	0.38609	.	.	ENSG00000083457	ENST00000263087	D	0.96522	-4.04	3.57	1.42	0.22433	.	.	.	.	.	D	0.93785	0.8013	L	0.46157	1.445	0.19575	N	0.999965	P	0.45902	0.868	P	0.45506	0.483	D	0.87468	0.2412	9	0.72032	D	0.01	.	6.0782	0.19927	0.2175:0.5716:0.2109:0.0	.	158	P38570	ITAE_HUMAN	Y	158	ENSP00000263087:D158Y	ENSP00000263087:D158Y	D	-	1	0	ITGAE	3611182	0.012000	0.17670	0.216000	0.23742	0.058000	0.15608	-0.424000	0.07025	0.431000	0.26258	0.407000	0.27541	GAC		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
CCR7	1236	broad.mit.edu	37	17	38711921	38711921	+	Silent	SNP	G	G	A	rs367712364		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:38711921G>A	ENST00000246657.2	-	3	272	c.210C>T	c.(208-210)ttC>ttT	p.F70F	CCR7_ENST00000579344.1_Silent_p.F64F	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	70					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.F70F(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GTAGGCCCACGAAACAAATGA	0.507																																					p.F70F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210T	17						.						111.0	102.0	105.0					17																	38711921		2203	4300	6503	35965447	SO:0001819	synonymous_variant	1236	exon3				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.210C>T	17.37:g.38711921G>A		Somatic		Capture	Illumina HiSeq	Phase_I	35965447	NM_001838		Silent	SNP	ENST00000246657.2	37	CCDS11369.1																																																																																				0.507	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1		
KRT26	353288	broad.mit.edu	37	17	38925240	38925240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:38925240G>A	ENST00000335552.4	-	6	1126	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*		NM_181539.4	NP_853517.2			keratin 26									p.R360*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GTTTCTGTTCGAATCTGTTGC	0.388																																					p.R360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1078T	17						.						103.0	90.0	94.0					17																	38925240		2203	4300	6503	36178766	SO:0001587	stop_gained	353288	exon6			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1078C>T	17.37:g.38925240G>A	ENSP00000334798:p.Arg360*	Somatic		Capture	Illumina HiSeq	Phase_I	36178766	NM_181539		Nonsense_Mutation	SNP	ENST00000335552.4	37	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270215	0.59540	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.15	2.98	0.34508	.	0.000000	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7553	0.57331	0.0:0.0:0.5828:0.4172	.	.	.	.	X	360	.	ENSP00000334798:R360X	R	-	1	2	KRT26	36178766	0.197000	0.23362	0.158000	0.22627	0.237000	0.25408	0.683000	0.25349	1.266000	0.44231	0.655000	0.94253	CGA		0.388	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539	
KRT23	25984	broad.mit.edu	37	17	39081674	39081674	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39081674C>A	ENST00000209718.3	-	7	1498	c.1074G>T	c.(1072-1074)ctG>ctT	p.L358L	KRT23_ENST00000436344.3_Silent_p.L221L|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	358	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L358L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTTTGATGCCCAGCAGCACTT	0.552																																					p.L358L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1074T	17						.						255.0	190.0	212.0					17																	39081674		2203	4300	6503	36335200	SO:0001819	synonymous_variant	25984	exon7			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.1074G>T	17.37:g.39081674C>A		Somatic		Capture	Illumina HiSeq	Phase_I	36335200	NM_015515	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	CCDS11380.1																																																																																				0.552	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1		
KRT32	3882	broad.mit.edu	37	17	39622408	39622408	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39622408C>A	ENST00000225899.3	-	2	592	c.489G>T	c.(487-489)gaG>gaT	p.E163D	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	163	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E163D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TCCTGGCATTCTCTGCCTTGG	0.527																																					p.E163D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	17						.						136.0	109.0	118.0					17																	39622408		2203	4300	6503	36875934	SO:0001583	missense	3882	exon2			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.489G>T	17.37:g.39622408C>A	ENSP00000225899:p.Glu163Asp	Somatic		Capture	Illumina HiSeq	Phase_I	36875934	NM_002278		Missense_Mutation	SNP	ENST00000225899.3	37	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208758	0.39003	.	.	ENSG00000108759	ENST00000225899	D	0.89617	-2.54	5.01	2.82	0.32997	Filament (1);	0.183120	0.26362	N	0.024801	D	0.83496	0.5267	L	0.31752	0.955	0.34053	D	0.656379	B	0.19331	0.035	B	0.33690	0.168	T	0.81920	-0.0712	10	0.25751	T	0.34	.	12.5034	0.55968	0.0:0.5491:0.4508:0.0	.	163	Q14532	K1H2_HUMAN	D	163	ENSP00000225899:E163D	ENSP00000225899:E163D	E	-	3	2	KRT32	36875934	0.991000	0.36638	0.993000	0.49108	0.887000	0.51463	0.052000	0.14163	1.197000	0.43143	0.563000	0.77884	GAG		0.527	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
KRT35	3886	broad.mit.edu	37	17	39635978	39635978	+	Missense_Mutation	SNP	T	T	G	rs557655043		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39635978T>G	ENST00000393989.1	-	2	569	c.527A>C	c.(526-528)aAa>aCa	p.K176T	KRT35_ENST00000246639.2_Missense_Mutation_p.K146T	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	176	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.K176T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGCAGCCAATTTGGCATTGTC	0.488																																					p.K176T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A527C	17						.						191.0	193.0	193.0					17																	39635978		2203	4300	6503	36889504	SO:0001583	missense	3886	exon2			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.527A>C	17.37:g.39635978T>G	ENSP00000377558:p.Lys176Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36889504	NM_002280	O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	T	18.89	3.718973	0.68844	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.89415	-2.51;-2.51	5.1	5.1	0.69264	Filament (1);	0.000000	0.56097	D	0.000024	D	0.94719	0.8296	M	0.93939	3.475	0.39753	D	0.971913	D	0.76494	0.999	D	0.79784	0.993	D	0.94962	0.8109	10	0.87932	D	0	.	5.7452	0.18116	0.0:0.1813:0.0:0.8187	.	176	Q92764	KRT35_HUMAN	T	146;176	ENSP00000246639:K146T;ENSP00000377558:K176T	ENSP00000246639:K146T	K	-	2	0	KRT35	36889504	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.953000	0.29162	2.133000	0.65898	0.533000	0.62120	AAA		0.488	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280	
KRT9	3857	broad.mit.edu	37	17	39723535	39723535	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39723535G>T	ENST00000246662.4	-	7	1927	c.1862C>A	c.(1861-1863)tCc>tAc	p.S621Y	KRT9_ENST00000588431.1_Missense_Mutation_p.S388Y	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	621	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S621Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTAGGAATGGGATGATTTtcc	0.517																																					p.S621Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1862A	17						.						114.0	105.0	108.0					17																	39723535		2203	4300	6503	36977061	SO:0001583	missense	3857	exon7				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1862C>A	17.37:g.39723535G>T	ENSP00000246662:p.Ser621Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36977061	NM_000226	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	1.225	-0.625879	0.03610	.	.	ENSG00000171403	ENST00000246662	D	0.82711	-1.64	3.09	2.1	0.27182	.	.	.	.	.	T	0.67069	0.2854	N	0.08118	0	0.23150	N	0.99821	P	0.40638	0.725	B	0.40982	0.345	T	0.59573	-0.7429	9	0.87932	D	0	.	6.4792	0.22053	0.1444:0.0:0.8556:0.0	.	621	P35527	K1C9_HUMAN	Y	621	ENSP00000246662:S621Y	ENSP00000246662:S621Y	S	-	2	0	KRT9	36977061	0.973000	0.33851	0.908000	0.35775	0.121000	0.20230	1.235000	0.32671	0.610000	0.30035	0.385000	0.25706	TCC		0.517	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
KRT16	3868	broad.mit.edu	37	17	39766257	39766257	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39766257G>A	ENST00000301653.4	-	8	1416	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	451	Tail.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S451L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CTGACGGCTCGAAGAGGACGA	0.612																																					p.S451L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1352T	17						.						28.0	29.0	28.0					17																	39766257		2203	4300	6503	37019783	SO:0001583	missense	3868	exon8			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1352C>T	17.37:g.39766257G>A	ENSP00000301653:p.Ser451Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37019783	NM_005557	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339954	0.41398	.	.	ENSG00000186832	ENST00000301653	D	0.82803	-1.65	2.97	1.96	0.26148	.	0.647470	0.13612	N	0.375099	T	0.63570	0.2522	N	0.08118	0	0.09310	N	0.999999	B	0.19073	0.033	B	0.15052	0.012	T	0.53151	-0.8479	10	0.35671	T	0.21	.	6.7794	0.23638	0.145:0.0:0.855:0.0	.	451	P08779	K1C16_HUMAN	L	451	ENSP00000301653:S451L	ENSP00000301653:S451L	S	-	2	0	KRT16	37019783	0.104000	0.21937	0.090000	0.20809	0.495000	0.33615	2.308000	0.43690	1.401000	0.46761	0.462000	0.41574	TCG		0.612	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
NT5C3B	115024	broad.mit.edu	37	17	39985116	39985116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39985116C>A	ENST00000435506.2	-	7	562	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	NT5C3B_ENST00000269534.8_Nonsense_Mutation_p.E157*|NT5C3B_ENST00000521789.1_Nonsense_Mutation_p.E132*			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	165					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E157*(1)									CGGATAATTTCTTCCAGGATA	0.428																																					p.E165X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G493T	17						.						170.0	155.0	160.0					17																	39985116		2203	4300	6503	37238642	SO:0001587	stop_gained	115024	exon7				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.493G>T	17.37:g.39985116C>A	ENSP00000389948:p.Glu165*	Somatic		Capture	Illumina HiSeq	Phase_I	37238642	NM_052935	A8MWB9|C9JKC4|Q7L3B7	Nonsense_Mutation	SNP	ENST00000435506.2	37	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366009	0.82463	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506;ENST00000415460	.	.	.	5.4	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-0.1512	13.6839	0.62504	0.0:0.9257:0.0:0.0743	.	.	.	.	X	157;132;199;165;135	.	ENSP00000269534:E157X	E	-	1	0	NT5C3L	37238642	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	5.847000	0.69451	1.521000	0.48983	0.561000	0.74099	GAA		0.428	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935	
KLHL10	317719	broad.mit.edu	37	17	39994205	39994205	+	Silent	SNP	G	G	T	rs368540358		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39994205G>T	ENST00000293303.4	+	1	174	c.21G>T	c.(19-21)gcG>gcT	p.A7A	KLHL10_ENST00000485613.1_3'UTR|NT5C3B_ENST00000269534.8_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|NT5C3B_ENST00000435506.2_5'Flank|RN7SL871P_ENST00000583512.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	7					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.A7A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGAGCGCGGCGGCCTCCACAC	0.617																																					p.A7A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G21T	17						.						108.0	109.0	109.0					17																	39994205		2044	4179	6223	37247731	SO:0001819	synonymous_variant	317719	exon1			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.21G>T	17.37:g.39994205G>T		Somatic		Capture	Illumina HiSeq	Phase_I	37247731	NM_152467	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	CCDS42340.1																																																																																				0.617	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467	
AOC3	8639	broad.mit.edu	37	17	41004696	41004696	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:41004696G>T	ENST00000308423.2	+	1	1496	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	446					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.D446Y(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACACCACTCAGATCTCTACTC	0.537																																					p.D446Y	NSCLC(3;192 220 10664 11501 16477)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1336T	17						.						120.0	106.0	111.0					17																	41004696		2203	4300	6503	38258222	SO:0001583	missense	8639	exon1			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1336G>T	17.37:g.41004696G>T	ENSP00000312326:p.Asp446Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38258222	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050732	0.08243	.	.	ENSG00000131471	ENST00000308423	T	0.03689	3.84	4.64	1.52	0.23074	Copper amine oxidase, C-terminal (3);	0.322238	0.31370	N	0.007763	T	0.03739	0.0106	L	0.46614	1.455	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.35798	-0.9774	10	0.54805	T	0.06	.	5.3962	0.16271	0.3373:0.0:0.5306:0.1321	.	446	Q16853	AOC3_HUMAN	Y	446	ENSP00000312326:D446Y	ENSP00000312326:D446Y	D	+	1	0	AOC3	38258222	0.000000	0.05858	0.103000	0.21229	0.616000	0.37450	0.235000	0.17948	0.296000	0.22592	0.591000	0.81541	GAT		0.537	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
G6PC	2538	broad.mit.edu	37	17	41053026	41053026	+	Missense_Mutation	SNP	G	G	A	rs145749644		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:41053026G>A	ENST00000253801.2	+	1	212	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	G6PC_ENST00000585489.1_Missense_Mutation_p.V45I|G6PC_ENST00000592383.1_Missense_Mutation_p.V45I|LINC00671_ENST00000301683.3_lincRNA	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	45					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.V45I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCCTTCTACGTCCTCTTCCC	0.502																																					p.V45I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	17						.	G	ILE/VAL	0,4406		0,0,2203	172.0	146.0	155.0		133	4.3	1.0	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	missense	G6PC	NM_000151.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	45/358	41053026	1,13005	2203	4300	6503	38306552	SO:0001583	missense	2538	exon1			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.133G>A	17.37:g.41053026G>A	ENSP00000253801:p.Val45Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38306552	NM_000151	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	3.938	-0.014762	0.07681	0.0	1.16E-4	ENSG00000131482	ENST00000253801	T	0.74737	-0.87	5.27	4.31	0.51392	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.058907	0.64402	D	0.000003	T	0.43809	0.1264	N	0.04636	-0.2	0.39877	D	0.973581	B;B	0.30021	0.265;0.003	B;B	0.17722	0.019;0.003	T	0.51156	-0.8741	10	0.02654	T	1	.	10.1742	0.42929	0.1506:0.0:0.8494:0.0	.	47;45	E7ENG5;P35575	.;G6PC_HUMAN	I	45	ENSP00000253801:V45I	ENSP00000253801:V45I	V	+	1	0	G6PC	38306552	0.997000	0.39634	0.964000	0.40570	0.987000	0.75469	2.454000	0.44979	1.462000	0.47948	0.650000	0.86243	GTC		0.502	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151	
BRCA1	672	broad.mit.edu	37	17	41215925	41215925	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:41215925T>C	ENST00000357654.3	-	17	5236	c.5118A>G	c.(5116-5118)ggA>ggG	p.G1706G	BRCA1_ENST00000491747.2_Silent_p.G602G|BRCA1_ENST00000309486.4_Silent_p.G1410G|BRCA1_ENST00000352993.3_Silent_p.G564G|BRCA1_ENST00000471181.2_Silent_p.G1727G|BRCA1_ENST00000586385.1_Silent_p.G16G|BRCA1_ENST00000351666.3_Silent_p.G523G|BRCA1_ENST00000591534.1_Silent_p.G197G|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000468300.1_Silent_p.G602G|BRCA1_ENST00000493795.1_Silent_p.G1659G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Silent_p.G1467G	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1706	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.		G -> A (in BC; unknown pathological significance).|G -> E (in BC; unknown pathological significance; dbSNP:rs80356860). {ECO:0000269|PubMed:17924331}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1706G(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCCCGCAATTCCTAGAAAAT	0.378			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.G1706G		yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5118G	17						.						81.0	77.0	78.0					17																	41215925		2203	4300	6503	38469451	SO:0001819	synonymous_variant	672	exon17	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5118A>G	17.37:g.41215925T>C		Somatic		Capture	Illumina HiSeq	Phase_I	38469451	NM_007294	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1																																																																																				0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
BRCA1	672	broad.mit.edu	37	17	41244829	41244829	+	Missense_Mutation	SNP	C	C	T	rs80357731		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:41244829C>T	ENST00000357654.3	-	10	2837	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E611K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E907K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E907K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E860K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E907K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	907					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E907K(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGATTTTCTTCCTTTTGTTCA	0.398			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.E907K		yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2719A	17						.						124.0	122.0	123.0					17																	41244829		2203	4300	6503	38498355	SO:0001583	missense	672	exon10	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2719G>A	17.37:g.41244829C>T	ENSP00000350283:p.Glu907Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38498355	NM_007294	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993546	0.74703	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	4.69	3.65	0.41850	.	0.120886	0.37483	N	0.002069	T	0.79718	0.4494	L	0.37897	1.145	0.27322	N	0.957028	P;P;P;P;P;P	0.52316	0.952;0.952;0.471;0.566;0.893;0.679	P;P;B;P;P;B	0.57548	0.73;0.823;0.441;0.531;0.732;0.264	T	0.69239	-0.5197	10	0.24483	T	0.36	.	11.4806	0.50322	0.0:0.9023:0.0:0.0977	.	907;866;907;907;907;907	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	K	907;907;907;907;611;907;860	ENSP00000350283:E907K;ENSP00000326002:E907K;ENSP00000246907:E907K;ENSP00000310938:E611K;ENSP00000418960:E907K;ENSP00000418775:E860K	ENSP00000310938:E611K	E	-	1	0	BRCA1	38498355	0.716000	0.27956	0.949000	0.38748	0.199000	0.23934	0.614000	0.24314	2.422000	0.82143	0.305000	0.20034	GAA		0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
GPATCH8	23131	broad.mit.edu	37	17	42512437	42512437	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:42512437T>C	ENST00000591680.1	-	5	374	c.344A>G	c.(343-345)tAc>tGc	p.Y115C	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Missense_Mutation_p.Y37C	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	115							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y115C(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAATACCTTGTACTTTTGTCT	0.388																																					p.Y115C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A344G	17						.						212.0	174.0	187.0					17																	42512437		2203	4300	6503	39867963	SO:0001583	missense	23131	exon5			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.344A>G	17.37:g.42512437T>C	ENSP00000467556:p.Tyr115Cys	Somatic		Capture	Illumina HiSeq	Phase_I	39867963	NM_001002909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430796	0.62844	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13089	2.62	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000007	T	0.25531	0.0621	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.03818	-1.1001	10	0.72032	D	0.01	-14.0676	15.7838	0.78286	0.0:0.0:0.0:1.0	.	115	Q9UKJ3	GPTC8_HUMAN	C	115;37	ENSP00000395016:Y37C	ENSP00000335486:Y115C	Y	-	2	0	GPATCH8	39867963	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.240000	0.78192	2.133000	0.65898	0.477000	0.44152	TAC		0.388	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
C17orf104	284071	broad.mit.edu	37	17	42744753	42744753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:42744753C>T	ENST00000409122.2	+	5	1616	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*	C17orf104_ENST00000359945.3_Nonsense_Mutation_p.R492*|C17orf104_ENST00000409464.1_Nonsense_Mutation_p.R326*	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	492								p.R492*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TATTCCTTATCGAAATCAAGG	0.328																																					p.R492X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1474T	17						.						56.0	59.0	58.0					17																	42744753		2203	4300	6503	40100279	SO:0001587	stop_gained	284071	exon5				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1474C>T	17.37:g.42744753C>T	ENSP00000386452:p.Arg492*	Somatic		Capture	Illumina HiSeq	Phase_I	40100279	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Nonsense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	37	6.322985	0.97471	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	.	.	.	5.67	2.39	0.29439	.	0.243911	0.34484	N	0.003926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-16.8789	13.109	0.59263	0.4232:0.5768:0.0:0.0	.	.	.	.	X	492;492;326	.	ENSP00000353028:R492X	R	+	1	2	C17orf104	40100279	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	1.329000	0.33770	0.253000	0.21552	0.655000	0.94253	CGA		0.328	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	
GJC1	10052	broad.mit.edu	37	17	42883050	42883050	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:42883050C>T	ENST00000426548.1	-	3	405	c.136G>A	c.(136-138)Gat>Aat	p.D46N	GJC1_ENST00000590758.1_Missense_Mutation_p.D46N|GJC1_ENST00000592524.1_Missense_Mutation_p.D46N|GJC1_ENST00000330514.4_Missense_Mutation_p.D46N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	46					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.D46N(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTTTGCTCATCGTAATAGATG	0.473																																					p.D46N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	17						.						135.0	113.0	120.0					17																	42883050		2203	4300	6503	40238576	SO:0001583	missense	10052	exon3			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.136G>A	17.37:g.42883050C>T	ENSP00000411528:p.Asp46Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40238576	NM_005497	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408351	0.83340	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99548	-6.14;-6.14	5.26	5.26	0.73747	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97543	1.0087	10	0.87932	D	0	.	17.8787	0.88833	0.0:1.0:0.0:0.0	.	46	P36383	CXG1_HUMAN	N	46	ENSP00000411528:D46N;ENSP00000333193:D46N	ENSP00000333193:D46N	D	-	1	0	GJC1	40238576	1.000000	0.71417	0.850000	0.33497	0.931000	0.56810	7.818000	0.86416	2.458000	0.83093	0.455000	0.32223	GAT		0.473	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
GOSR2	9570	broad.mit.edu	37	17	45009477	45009477	+	Missense_Mutation	SNP	C	C	T	rs577835455	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:45009477C>T	ENST00000393456.2	+	4	305	c.248C>T	c.(247-249)gCg>gTg	p.A83V	GOSR2_ENST00000415811.2_Missense_Mutation_p.A83V|GOSR2_ENST00000225567.4_Missense_Mutation_p.A83V|GOSR2_ENST00000576910.2_Missense_Mutation_p.A83V|GOSR2_ENST00000575949.1_Missense_Mutation_p.A83V|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.A83V|GOSR2_ENST00000439730.2_Missense_Mutation_p.A83V	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	83					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.A83V(1)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CTGCAGACTGCGCTCAGAAAC	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		19835	0.0		0.0	False		,,,				2504	0.002				p.A83V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248T	17						.						140.0	136.0	138.0					17																	45009477		2203	4300	6503	42364476	SO:0001583	missense	9570	exon4			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.248C>T	17.37:g.45009477C>T	ENSP00000377101:p.Ala83Val	Somatic		Capture	Illumina HiSeq	Phase_I	42364476	NM_001012511	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574968	0.96553	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.42513	0.97;0.97;0.97;1.93	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.81802	2.56	0.80722	D	1	D;P;D;P	0.56746	0.977;0.935;0.961;0.599	B;B;P;B	0.49597	0.412;0.412;0.616;0.256	T	0.64554	-0.6380	10	0.62326	D	0.03	-14.3799	19.3333	0.94303	0.0:1.0:0.0:0.0	.	83;83;83;83	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	V	83	ENSP00000225567:A83V;ENSP00000377101:A83V;ENSP00000394559:A83V;ENSP00000390577:A83V	ENSP00000225567:A83V	A	+	2	0	GOSR2	42364476	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.844000	0.55873	2.793000	0.96121	0.655000	0.94253	GCG		0.522	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1		
MYBBP1A	10514	broad.mit.edu	37	17	4443175	4443175	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:4443175G>T	ENST00000254718.4	-	26	3828	c.3522C>A	c.(3520-3522)ttC>ttA	p.F1174L	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.F1174L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1174	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.F1174L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCTCTGGCAAGAATCCCTTTT	0.602																																					p.F1174L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3522A	17						.						91.0	94.0	93.0					17																	4443175		2203	4300	6503	4389924	SO:0001583	missense	10514	exon26			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3522C>A	17.37:g.4443175G>T	ENSP00000254718:p.Phe1174Leu	Somatic		Capture	Illumina HiSeq	Phase_I	4389924	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524378	0.85600	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.42131	0.98;0.99	5.04	4.07	0.47477	.	0.109099	0.64402	D	0.000005	T	0.50429	0.1615	L	0.36672	1.1	0.38367	D	0.944763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.53294	-0.8459	10	0.46703	T	0.11	-29.6305	9.4109	0.38491	0.0962:0.0:0.9038:0.0	.	1174;1174	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	L	1174	ENSP00000370968:F1174L;ENSP00000254718:F1174L	ENSP00000254718:F1174L	F	-	3	2	MYBBP1A	4389924	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.987000	0.29603	1.352000	0.45808	0.561000	0.74099	TTC		0.602	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
MYBBP1A	10514	broad.mit.edu	37	17	4457493	4457493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:4457493C>A	ENST00000254718.4	-	3	681	c.375G>T	c.(373-375)aaG>aaT	p.K125N	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.K125N			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	125	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.K125N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTCTCACCTTCTTCACCTGAT	0.562																																					p.K125N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G375T	17						.						87.0	91.0	90.0					17																	4457493		2203	4300	6503	4404242	SO:0001583	missense	10514	exon3			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.375G>T	17.37:g.4457493C>A	ENSP00000254718:p.Lys125Asn	Somatic		Capture	Illumina HiSeq	Phase_I	4404242	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	8.562	0.878004	0.17395	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.39997	1.05;1.05	5.54	-0.5	0.12012	Armadillo-type fold (1);	0.181156	0.47852	N	0.000208	T	0.30355	0.0762	L	0.35723	1.085	0.26632	N	0.972449	B;B	0.29481	0.245;0.206	B;B	0.35727	0.209;0.133	T	0.20672	-1.0268	10	0.36615	T	0.2	-16.507	7.2791	0.26302	0.0:0.3623:0.4265:0.2112	.	125;125	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	N	125	ENSP00000370968:K125N;ENSP00000254718:K125N	ENSP00000254718:K125N	K	-	3	2	MYBBP1A	4404242	0.920000	0.31207	0.542000	0.28115	0.082000	0.17680	-0.034000	0.12225	-0.177000	0.10690	-0.140000	0.14226	AAG		0.562	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
EFCAB13	124989	broad.mit.edu	37	17	45471419	45471419	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:45471419C>A	ENST00000331493.2	+	16	2166	c.1755C>A	c.(1753-1755)ttC>ttA	p.F585L	EFCAB13_ENST00000517484.1_Missense_Mutation_p.F489L	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F585L(1)									TTAAAGAATTCATTGATACTA	0.269																																					p.F585L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1755A	17						.						87.0	97.0	94.0					17																	45471419		2203	4300	6503	42826418	SO:0001583	missense	124989	exon16			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1755C>A	17.37:g.45471419C>A	ENSP00000332111:p.Phe585Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42826418	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	c	5.715	0.316340	0.10789	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000523842	T;T;T	0.73363	-0.25;-0.74;0.48	2.87	-2.42	0.06542	EF-hand-like domain (1);	0.486319	0.18515	N	0.138921	T	0.62732	0.2452	L	0.52364	1.645	0.09310	N	0.999991	P;B	0.35745	0.518;0.106	B;B	0.36418	0.224;0.05	T	0.56251	-0.8010	10	0.59425	D	0.04	-0.7173	7.3044	0.26438	0.0:0.3218:0.0:0.6782	.	585;489	Q8IY85;G3V128	CQ057_HUMAN;.	L	585;489;111	ENSP00000332111:F585L;ENSP00000430048:F489L;ENSP00000429566:F111L	ENSP00000332111:F585L	F	+	3	2	C17orf57	42826418	0.005000	0.15991	0.051000	0.19133	0.437000	0.31866	-0.831000	0.04405	-0.580000	0.05944	-0.229000	0.12294	TTC		0.269	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
IGF2BP1	10642	broad.mit.edu	37	17	47115723	47115723	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:47115723C>T	ENST00000290341.3	+	6	929	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	199	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.R199W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATCCCCCTTCGGCTCCTGGT	0.652																																					p.R199W	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C595T	17						.						18.0	20.0	19.0					17																	47115723		2201	4299	6500	44470722	SO:0001583	missense	10642	exon6			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.595C>T	17.37:g.47115723C>T	ENSP00000290341:p.Arg199Trp	Somatic		Capture	Illumina HiSeq	Phase_I	44470722	NM_006546	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027495	0.75390	.	.	ENSG00000159217	ENST00000290341	T	0.36520	1.25	5.48	3.26	0.37387	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.124291	0.51477	D	0.000097	T	0.67524	0.2902	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	-25.1044	14.6338	0.68676	0.3619:0.638:0.0:0.0	.	199	Q9NZI8	IF2B1_HUMAN	W	199	ENSP00000290341:R199W	ENSP00000290341:R199W	R	+	1	2	IGF2BP1	44470722	0.820000	0.29190	0.998000	0.56505	0.990000	0.78478	0.461000	0.21940	1.273000	0.44346	0.655000	0.94253	CGG		0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
IGF2BP1	10642	broad.mit.edu	37	17	47119704	47119704	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:47119704C>T	ENST00000290341.3	+	9	1376	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R209W	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	348	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.R348W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAAGAAAGTTCGGGAGGCCTA	0.517																																					p.R209W	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C625T	17						.						107.0	107.0	107.0					17																	47119704		2203	4300	6503	44474703	SO:0001583	missense	10642	exon7			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1042C>T	17.37:g.47119704C>T	ENSP00000290341:p.Arg348Trp	Somatic		Capture	Illumina HiSeq	Phase_I	44474703	NM_001160423	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313879	0.40996	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.46451	0.87;0.87	5.59	4.6	0.57074	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	L	0.43152	1.355	0.54753	D	0.999988	D;P	0.71674	0.998;0.923	D;B	0.66602	0.945;0.429	T	0.56673	-0.7940	10	0.72032	D	0.01	-14.3474	12.8616	0.57915	0.434:0.566:0.0:0.0	.	209;348	C9JT33;Q9NZI8	.;IF2B1_HUMAN	W	348;209	ENSP00000290341:R348W;ENSP00000389135:R209W	ENSP00000290341:R348W	R	+	1	2	IGF2BP1	44474703	0.760000	0.28428	0.773000	0.31616	0.595000	0.36748	1.212000	0.32394	1.431000	0.47355	0.655000	0.94253	CGG		0.517	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
KAT7	11143	broad.mit.edu	37	17	47886497	47886497	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:47886497G>A	ENST00000259021.4	+	6	960	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	KAT7_ENST00000424009.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000454930.2_Missense_Mutation_p.R88Q|KAT7_ENST00000503935.2_Missense_Mutation_p.R71Q|KAT7_ENST00000509773.1_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	227					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R227Q(1)									GCACAGAGCCGGGATAAGCAG	0.453																																					p.R88Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	17						.						135.0	112.0	120.0					17																	47886497		2203	4300	6503	45241496	SO:0001583	missense	11143	exon4			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.680G>A	17.37:g.47886497G>A	ENSP00000259021:p.Arg227Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45241496	NM_001199156	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	36	5.822388	0.96989	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000503935	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.99;0.999	P;P	0.53518	0.629;0.728	T	0.77365	-0.2615	9	0.66056	D	0.02	-12.1042	19.6588	0.95855	0.0:0.0:1.0:0.0	.	88;227	E7ER15;O95251	.;KAT7_HUMAN	Q	227;88;71	.	ENSP00000259021:R227Q	R	+	2	0	KAT7	45241496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.568000	0.90741	2.751000	0.94390	0.650000	0.86243	CGG		0.453	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067	
TAC4	255061	broad.mit.edu	37	17	47917229	47917229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:47917229C>A	ENST00000334568.4	-	4	292	c.293G>T	c.(292-294)aGa>aTa	p.R98I	TAC4_ENST00000326219.5_Intron|TAC4_ENST00000436235.1_Missense_Mutation_p.R92I|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000398154.1_Missense_Mutation_p.R81I	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)									p.R98I(1)		breast(1)|large_intestine(1)|lung(3)	5						GAACAGGCTTCTCTTGCCCAG	0.567																																					p.R81I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242T	17						.						58.0	58.0	58.0					17																	47917229		1946	4129	6075	45272228	SO:0001583	missense	255061	exon3			AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"""Endogenous ligands"""	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.293G>T	17.37:g.47917229C>A	ENSP00000334042:p.Arg98Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45272228	NM_001077503		Missense_Mutation	SNP	ENST00000334568.4	37	CCDS42357.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409897	0.42715	.	.	ENSG00000176358	ENST00000334568;ENST00000398154;ENST00000436235	.	.	.	4.37	-6.09	0.02145	.	3.046430	0.01576	N	0.020824	T	0.18383	0.0441	N	0.19112	0.55	0.09310	N	1	B;B;B	0.34241	0.218;0.444;0.444	B;B;B	0.28305	0.052;0.088;0.052	T	0.13072	-1.0523	9	0.87932	D	0	0.007	1.9734	0.03411	0.1207:0.1812:0.3567:0.3414	.	81;92;98	Q86UU9-2;Q86UU9-5;Q86UU9	.;.;TKN4_HUMAN	I	98;81;92	.	ENSP00000334042:R98I	R	-	2	0	TAC4	45272228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.499000	0.06413	-1.204000	0.02648	-0.217000	0.12591	AGA		0.567	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366198.1	NM_170685	
ITGA3	3675	broad.mit.edu	37	17	48165110	48165110	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:48165110C>A	ENST00000320031.8	+	24	3252	c.2922C>A	c.(2920-2922)ttC>ttA	p.F974L	ITGA3_ENST00000007722.7_Missense_Mutation_p.F974L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	974					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.F974L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CGCTCCAGTTCTCTGTGGACA	0.647																																					p.F974L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2922A	17						.						67.0	61.0	63.0					17																	48165110		2203	4300	6503	45520109	SO:0001583	missense	3675	exon24			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2922C>A	17.37:g.48165110C>A	ENSP00000315190:p.Phe974Leu	Somatic		Capture	Illumina HiSeq	Phase_I	45520109	NM_002204	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748502	0.30955	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.55588	0.51;0.51	4.68	1.53	0.23141	.	0.106801	0.64402	D	0.000003	T	0.41604	0.1166	L	0.47716	1.5	0.80722	D	1	B;B	0.32040	0.353;0.025	B;B	0.32022	0.139;0.024	T	0.20042	-1.0287	10	0.31617	T	0.26	.	9.8081	0.40805	0.0:0.747:0.0:0.253	.	974;974	P26006-1;P26006	.;ITA3_HUMAN	L	974;960;974	ENSP00000007722:F974L;ENSP00000315190:F974L	ENSP00000007722:F974L	F	+	3	2	ITGA3	45520109	0.995000	0.38212	0.998000	0.56505	0.323000	0.28346	1.211000	0.32382	0.524000	0.28502	0.305000	0.20034	TTC		0.647	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
EME1	146956	broad.mit.edu	37	17	48452859	48452859	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:48452859C>T	ENST00000338165.4	+	2	372	c.290C>T	c.(289-291)gCt>gTt	p.A97V	MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.A97V|EME1_ENST00000393271.2_Missense_Mutation_p.A97V|MRPL27_ENST00000442592.3_5'Flank|MRPL27_ENST00000503633.1_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	97					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.A97V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATTCCTCTGGCTCAAAGGCTT	0.433								Direct reversal of damage;Homologous recombination																													p.A97V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C290T	17						.						82.0	85.0	84.0					17																	48452859		2203	4300	6503	45807858	SO:0001583	missense	146956	exon2			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.290C>T	17.37:g.48452859C>T	ENSP00000339897:p.Ala97Val	Somatic		Capture	Illumina HiSeq	Phase_I	45807858	NM_001166131	Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028659	0.54790	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	T;T;T;T	0.25749	2.44;2.45;1.78;2.45	5.37	4.39	0.52855	.	0.354458	0.24808	N	0.035434	T	0.33498	0.0865	L	0.36672	1.1	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.56474	0.799;0.634	T	0.05402	-1.0887	10	0.87932	D	0	-0.7334	12.4481	0.55662	0.0:0.92:0.0:0.08	.	97;97	Q96AY2-2;Q96AY2	.;EME1_HUMAN	V	97	ENSP00000339897:A97V;ENSP00000376952:A97V;ENSP00000423029:A97V;ENSP00000421700:A97V	ENSP00000339897:A97V	A	+	2	0	EME1	45807858	0.997000	0.39634	0.198000	0.23420	0.163000	0.22366	3.944000	0.56629	2.516000	0.84829	0.655000	0.94253	GCT		0.433	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463	
CACNA1G	8913	broad.mit.edu	37	17	48683263	48683263	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:48683263T>C	ENST00000359106.5	+	23	4301	c.4301T>C	c.(4300-4302)tTc>tCc	p.F1434S	CACNA1G_ENST00000513964.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.F1434S|CACNA1G_ENST00000352832.5_Missense_Mutation_p.F1411S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.F1411S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.F1434S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.F1411S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.F1411S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.F1434S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.F1411S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.F1411S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.F1411S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.F1434S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.F1434S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.F1411S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1434					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.F1434S(2)|p.F1411S(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCAGCTCTTCAAAGGGAAG	0.567																																					p.F1411S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T4232C	17						.						26.0	28.0	28.0					17																	48683263		2042	4215	6257	46038262	SO:0001583	missense	8913	exon22			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4301T>C	17.37:g.48683263T>C	ENSP00000352011:p.Phe1434Ser	Somatic		Capture	Illumina HiSeq	Phase_I	46038262	NM_198382	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	27.1	4.796067	0.90453	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.98701	4.305	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.996;1.0;0.999;0.996;1.0;0.993;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.996;0.999;0.996;0.999;0.998;0.996;0.999;0.996;0.995;0.999;0.991;0.996;0.999;0.999;0.999;1.0;0.998;0.999;0.995;0.995;0.996;0.999;0.998;0.999;0.999	D	0.97440	1.0021	10	0.87932	D	0	.	15.25	0.73536	0.0:0.0:0.0:1.0	.	464;1411;1434;1434;1434;1434;1434;1434;1434;1434;1434;1434;1411;1434;1434;1434;1434;1434;1411;1434;1411;1411;1411;1411;1434;1411;1434	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	S	1411;1411;1434;1411;1411;1411;1434;1434;1411;1434;1434;1434;1434;1434;1434;1411;1434;1434;1434;1434;1411;1434;1434;1434;1434;1434;249	ENSP00000353990:F1411S;ENSP00000339302:F1411S;ENSP00000392390:F1434S;ENSP00000347078:F1411S;ENSP00000409759:F1411S;ENSP00000425522:F1411S;ENSP00000426261:F1434S;ENSP00000425451:F1434S;ENSP00000422407:F1411S;ENSP00000426814:F1434S;ENSP00000427238:F1434S;ENSP00000423112:F1434S;ENSP00000420918:F1434S;ENSP00000426172:F1434S;ENSP00000423045:F1434S;ENSP00000427173:F1411S;ENSP00000426098:F1434S;ENSP00000425698:F1434S;ENSP00000426232:F1434S;ENSP00000423317:F1434S;ENSP00000350979:F1411S;ENSP00000352011:F1434S;ENSP00000414388:F1434S;ENSP00000423155:F1434S;ENSP00000422268:F1434S;ENSP00000421518:F1434S;ENSP00000427697:F249S	ENSP00000339302:F1411S	F	+	2	0	CACNA1G	46038262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.007000	0.58848	0.533000	0.62120	TTC		0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
CACNA1G	8913	broad.mit.edu	37	17	48683535	48683535	+	Intron	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:48683535G>A	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1525T|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A1525T(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGCATGTCGCAAAGCCCAG	0.572																																					p.A1525T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4573A	17						.						22.0	28.0	26.0					17																	48683535		2197	4292	6489	46038534	SO:0001627	intron_variant	8913	exon23			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+151G>A	17.37:g.48683535G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46038534	NM_198397	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	8.657	0.899543	0.17686	.	.	ENSG00000006283	ENST00000416767	D	0.96992	-4.2	3.51	-7.01	0.01594	.	.	.	.	.	D	0.89054	0.6606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.81326	-0.0983	5	.	.	.	.	1.9696	0.03403	0.2809:0.2461:0.3552:0.1179	.	.	.	.	T	1525	ENSP00000392390:A1525T	.	A	+	1	0	CACNA1G	46038534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.280000	0.02804	-1.051000	0.03226	-1.311000	0.01308	GCA		0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
CHRNE	1145	broad.mit.edu	37	17	4805239	4805239	+	Missense_Mutation	SNP	G	G	A	rs121909516	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:4805239G>A	ENST00000293780.4	-	5	498	c.488C>T	c.(487-489)tCg>tTg	p.S163L	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_Intron	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	163			S -> L (in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR). {ECO:0000269|PubMed:8755487}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.S163L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GAAAATAAGCGAACAGTTCTG	0.647																																					p.S163L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C488T	17	GRCh37	CM962727	CHRNE	M	rs121909516	.	G	LEU/SER,	0,4406		0,0,2203	62.0	63.0	63.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	488,	4.6	1.0	17	dbSNP_133	63	3,8597	2.2+/-6.3	0,3,4297	yes	missense,utr-3	CHRNE,C17orf107	NM_000080.3,NM_001145536.1	145,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,	163/494,	4805239	3,13003	2203	4300	6503	4746018	SO:0001583	missense	1145	exon5			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.488C>T	17.37:g.4805239G>A	ENSP00000293780:p.Ser163Leu	Somatic		Capture	Illumina HiSeq	Phase_I	4746018	NM_000080	D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241055	0.95272	0.0	3.49E-4	ENSG00000108556	ENST00000293780	T	0.80653	-1.4	4.63	4.63	0.57726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.063640	0.64402	D	0.000005	D	0.87861	0.6284	M	0.72576	2.205	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.88648	0.3180	10	0.56958	D	0.05	.	15.0247	0.71659	0.0:0.0:1.0:0.0	.	163	Q04844	ACHE_HUMAN	L	163	ENSP00000293780:S163L	ENSP00000293780:S163L	S	-	2	0	CHRNE	4746018	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	9.595000	0.98260	2.418000	0.82041	0.561000	0.74099	TCG		0.647	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		
ZFP3	124961	broad.mit.edu	37	17	4995617	4995617	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:4995617G>T	ENST00000318833.3	+	2	1154	c.818G>T	c.(817-819)aGa>aTa	p.R273I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R273I(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CAGCATCAGAGAATTCATACT	0.393																																					p.R273I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G818T	17						.						60.0	59.0	59.0					17																	4995617		2203	4300	6503	4936341	SO:0001583	missense	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.818G>T	17.37:g.4995617G>T	ENSP00000320347:p.Arg273Ile	Somatic		Capture	Illumina HiSeq	Phase_I	4936341	NM_153018	A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538388	0.65085	.	.	ENSG00000180787	ENST00000318833	T	0.24908	1.83	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001264	T	0.47469	0.1447	M	0.72479	2.2	0.50171	D	0.999856	D	0.64830	0.994	D	0.65773	0.938	T	0.50575	-0.8812	10	0.66056	D	0.02	-15.1146	14.2605	0.66083	0.0:0.0:1.0:0.0	.	273	Q96NJ6	ZFP3_HUMAN	I	273	ENSP00000320347:R273I	ENSP00000320347:R273I	R	+	2	0	ZFP3	4936341	0.733000	0.28132	1.000000	0.80357	0.998000	0.95712	2.584000	0.46102	2.485000	0.83878	0.563000	0.77884	AGA		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
ZNF594	84622	broad.mit.edu	37	17	5086776	5086776	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:5086776C>A	ENST00000399604.4	-	1	916	c.776G>T	c.(775-777)aGa>aTa	p.R259I	ZNF594_ENST00000575779.1_Missense_Mutation_p.R259I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	259					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.R259I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGTGTGAATTCTGTGATGTAT	0.428																																					p.R259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776T	17						.						100.0	105.0	103.0					17																	5086776		2184	4292	6476	5027500	SO:0001583	missense	84622	exon2			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.776G>T	17.37:g.5086776C>A	ENSP00000382513:p.Arg259Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5027500	NM_032530	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811911	0.50527	.	.	ENSG00000180626	ENST00000399604	T	0.24908	1.83	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.45137	1.4	0.34881	D	0.744576	P	0.50617	0.937	P	0.45538	0.484	T	0.41840	-0.9486	9	0.51188	T	0.08	.	10.6521	0.45655	0.0:1.0:0.0:0.0	.	259	Q96JF6	ZN594_HUMAN	I	259	ENSP00000382513:R259I	ENSP00000382513:R259I	R	-	2	0	ZNF594	5027500	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.169000	0.16641	1.400000	0.46741	0.449000	0.29647	AGA		0.428	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737	
RABEP1	9135	broad.mit.edu	37	17	5268465	5268465	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:5268465A>G	ENST00000546142.2	+	11	1904	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	RABEP1_ENST00000408982.2_Missense_Mutation_p.K573E|RABEP1_ENST00000537505.1_Missense_Mutation_p.K530E|RP11-420A6.2_ENST00000572792.1_RNA|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Missense_Mutation_p.K573E|RABEP1_ENST00000262477.6_Missense_Mutation_p.K573E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	573					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.K573E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGTTAGAGAAGACAATGAA	0.383																																					p.K573E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1717G	17						.						119.0	111.0	113.0					17																	5268465		1875	4110	5985	5209189	SO:0001583	missense	9135	exon11			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1717A>G	17.37:g.5268465A>G	ENSP00000437701:p.Lys573Glu	Somatic		Capture	Illumina HiSeq	Phase_I	5209189	NM_001083585	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816197	0.50527	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.96	3.88	0.44766	Rabaptin coiled-coil domain (1);	0.101207	0.64402	D	0.000004	T	0.18882	0.0453	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.27910	0.003;0.003;0.193;0.003;0.015	B;B;B;B;B	0.30716	0.008;0.023;0.119;0.014;0.012	T	0.04216	-1.0968	10	0.02654	T	1	-15.36	10.1116	0.42565	0.9212:0.0:0.0788:0.0	.	530;530;566;573;573	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	E	573;573;566;573;573;530	ENSP00000262477:K573E;ENSP00000386150:K573E;ENSP00000437701:K573E;ENSP00000339569:K573E;ENSP00000445408:K530E	ENSP00000262477:K573E	K	+	1	0	RABEP1	5209189	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.803000	0.69129	1.028000	0.39785	-0.250000	0.11733	AAG		0.383	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
CACNA1G	8913	broad.mit.edu	37	17	48693639	48693639	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:48693639C>A	ENST00000359106.5	+	28	4915	c.4915C>A	c.(4915-4917)Ctg>Atg	p.L1639M	CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1594M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1628M|CACNA1G_ENST00000352832.5_Missense_Mutation_p.L1605M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1621M|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1639M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1582M|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1628M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1639M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1605M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1616M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1621M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1628M|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1587M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1605M|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1646M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1616M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1639M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1605M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1594M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1639M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1605M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1628M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1621M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1598M	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1639					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.L1605M(1)|p.L1639M(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCCAGATTCTGGATGAGGC	0.557																																					p.L1616M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4846A	17						.						89.0	88.0	88.0					17																	48693639		1912	4112	6024	46048638	SO:0001583	missense	8913	exon27			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4915C>A	17.37:g.48693639C>A	ENSP00000352011:p.Leu1639Met	Somatic		Capture	Illumina HiSeq	Phase_I	46048638	NM_198382	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.595507	0.66219	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53	4.96	3.99	0.46301	.	0.000000	0.64402	D	0.000001	D	0.97573	0.9205	L	0.54323	1.7	0.58432	D	0.999997	P;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	0.82;0.995;0.999;0.998;1.0;1.0;0.999;0.999;0.999;0.989;1.0;0.982;0.947;1.0;0.998;0.992;0.866;0.994;1.0;1.0;0.998;0.97;1.0;0.999;0.998	P;D;D;D;D;D;D;D;D;P;D;P;P;D;D;D;P;D;D;D;D;P;D;D;P	0.91635	0.725;0.927;0.998;0.995;0.999;0.998;0.993;0.999;0.993;0.881;0.999;0.885;0.78;0.999;0.951;0.931;0.688;0.969;0.999;0.999;0.986;0.77;0.999;0.976;0.905	D	0.95826	0.8854	10	0.30078	T	0.28	.	9.1658	0.37050	0.0:0.8376:0.0:0.1624	.	1582;1594;1587;1621;1594;1621;1646;1605;1639;1628;1639;1616;1628;1628;1621;1628;1639;1616;1639;1605;1598;1605;1616;1639;1605	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	M	1616;1605;1605;1598;1616;1628;1594;1582;1587;1605;1639;1628;1594;1639;1605;1639;1621;1628;1646;1605;1639;1621;1621;1639;1628	ENSP00000353990:L1616M;ENSP00000339302:L1605M;ENSP00000347078:L1605M;ENSP00000409759:L1598M;ENSP00000425522:L1616M;ENSP00000426261:L1628M;ENSP00000425451:L1594M;ENSP00000422407:L1582M;ENSP00000426814:L1587M;ENSP00000427238:L1605M;ENSP00000423112:L1639M;ENSP00000420918:L1628M;ENSP00000426172:L1594M;ENSP00000423045:L1639M;ENSP00000427173:L1605M;ENSP00000426098:L1639M;ENSP00000425698:L1621M;ENSP00000426232:L1628M;ENSP00000423317:L1646M;ENSP00000350979:L1605M;ENSP00000352011:L1639M;ENSP00000414388:L1621M;ENSP00000423155:L1621M;ENSP00000422268:L1639M;ENSP00000421518:L1628M	ENSP00000339302:L1605M	L	+	1	2	CACNA1G	46048638	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	1.314000	0.33597	2.286000	0.76751	0.650000	0.86243	CTG		0.557	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
DGKE	8526	broad.mit.edu	37	17	54912488	54912488	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:54912488T>G	ENST00000284061.3	+	2	512	c.332T>G	c.(331-333)aTt>aGt	p.I111S	DGKE_ENST00000572810.1_Missense_Mutation_p.I111S|C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000575658.1_5'Flank|C17orf67_ENST00000487705.1_Intron	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	111					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I111S(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGCAAGGAGATTATGCTCAAG	0.617																																					p.I111S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T332G	17						.						67.0	58.0	61.0					17																	54912488		2203	4300	6503	52267487	SO:0001583	missense	8526	exon2			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.332T>G	17.37:g.54912488T>G	ENSP00000284061:p.Ile111Ser	Somatic		Capture	Illumina HiSeq	Phase_I	52267487	NM_003647	Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094513	0.76870	.	.	ENSG00000153933	ENST00000284061	D	0.84070	-1.8	5.51	5.51	0.81932	.	0.218792	0.46145	D	0.000312	T	0.81809	0.4901	M	0.69823	2.125	0.58432	D	0.999999	B;B	0.25521	0.128;0.128	B;B	0.28784	0.094;0.094	T	0.77568	-0.2539	10	0.15066	T	0.55	.	15.6162	0.76769	0.0:0.0:0.0:1.0	.	111;111	A1L4Q0;P52429	.;DGKE_HUMAN	S	111	ENSP00000284061:I111S	ENSP00000284061:I111S	I	+	2	0	DGKE	52267487	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.278000	0.78587	2.081000	0.62600	0.533000	0.62120	ATT		0.617	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647	
EPX	8288	broad.mit.edu	37	17	56271381	56271381	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:56271381G>T	ENST00000225371.5	+	5	632	c.522G>T	c.(520-522)gaG>gaT	p.E174D		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	174					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E174D(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TGCCCGCCGAGTATGAGGATG	0.657																																					p.E174D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G522T	17						.						27.0	30.0	29.0					17																	56271381		2203	4300	6503	53626380	SO:0001583	missense	8288	exon5			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.522G>T	17.37:g.56271381G>T	ENSP00000225371:p.Glu174Asp	Somatic		Capture	Illumina HiSeq	Phase_I	53626380	NM_000502	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	7.018	0.558089	0.13436	.	.	ENSG00000121053	ENST00000225371	T	0.68765	-0.35	3.97	2.99	0.34606	.	0.343163	0.33496	N	0.004846	T	0.47746	0.1462	L	0.31752	0.955	0.33958	D	0.645232	B	0.12013	0.005	B	0.15052	0.012	T	0.48399	-0.9039	10	0.25106	T	0.35	-15.6377	5.6925	0.17837	0.1084:0.2025:0.689:0.0	.	174	P11678	PERE_HUMAN	D	174	ENSP00000225371:E174D	ENSP00000225371:E174D	E	+	3	2	EPX	53626380	0.000000	0.05858	0.967000	0.41034	0.145000	0.21501	-0.524000	0.06222	0.995000	0.38917	-0.506000	0.04501	GAG		0.657	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
MPO	4353	broad.mit.edu	37	17	56350147	56350147	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:56350147G>T	ENST00000225275.3	-	10	1930	c.1754C>A	c.(1753-1755)gCt>gAt	p.A585D	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.A617D	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	585					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A585D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CATGTTCAGAGCAGGCAGGTC	0.612																																					p.A585D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1754A	17						.						96.0	91.0	92.0					17																	56350147		2203	4300	6503	53705146	SO:0001583	missense	4353	exon10				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1754C>A	17.37:g.56350147G>T	ENSP00000225275:p.Ala585Asp	Somatic		Capture	Illumina HiSeq	Phase_I	53705146	NM_000250	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220670	0.79464	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73681	-0.77;-0.77	5.07	4.08	0.47627	.	0.054021	0.64402	D	0.000001	D	0.90724	0.7089	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93546	0.6882	10	0.87932	D	0	-9.0958	14.4702	0.67512	0.0:0.148:0.852:0.0	.	585	P05164	PERM_HUMAN	D	617;585	ENSP00000344419:A617D;ENSP00000225275:A585D	ENSP00000225275:A585D	A	-	2	0	MPO	53705146	1.000000	0.71417	0.166000	0.22797	0.933000	0.57130	9.800000	0.99124	1.080000	0.41073	0.561000	0.74099	GCT		0.612	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
BZRAP1	9256	broad.mit.edu	37	17	56386063	56386063	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:56386063C>A	ENST00000343736.4	-	22	4733	c.4570G>T	c.(4570-4572)Gat>Tat	p.D1524Y	BZRAP1_ENST00000268893.6_Missense_Mutation_p.D1464Y|BZRAP1_ENST00000355701.3_Missense_Mutation_p.D1524Y			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1524						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.D1524Y(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTCCCCATCTCCAGGGTAG	0.622																																					p.D1524Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4570T	17						.						20.0	21.0	21.0					17																	56386063		2197	4293	6490	53741062	SO:0001583	missense	9256	exon22			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4570G>T	17.37:g.56386063C>A	ENSP00000345824:p.Asp1524Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	53741062	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075284	0.76415	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04706	3.57;3.57;3.58	5.41	5.41	0.78517	.	0.579485	0.18675	N	0.134332	T	0.12475	0.0303	L	0.32530	0.975	0.36996	D	0.895001	D;D;P	0.58970	0.975;0.984;0.938	P;P;P	0.60609	0.671;0.877;0.603	T	0.04255	-1.0965	10	0.62326	D	0.03	.	16.3398	0.83078	0.0:1.0:0.0:0.0	.	1524;1464;1524	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Y	1524;1524;1464	ENSP00000347929:D1524Y;ENSP00000345824:D1524Y;ENSP00000268893:D1464Y	ENSP00000268893:D1464Y	D	-	1	0	BZRAP1	53741062	0.971000	0.33674	0.987000	0.45799	0.930000	0.56654	2.059000	0.41384	2.551000	0.86045	0.455000	0.32223	GAT		0.622	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
HSF5	124535	broad.mit.edu	37	17	56557355	56557355	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:56557355G>T	ENST00000323777.3	-	2	933	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S275Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACATGTACAGATGTGGTGCT	0.473																																					p.S275Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824A	17						.						277.0	241.0	253.0					17																	56557355		2203	4300	6503	53912354	SO:0001583	missense	124535	exon2			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.824C>A	17.37:g.56557355G>T	ENSP00000313243:p.Ser275Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	53912354	NM_001080439	Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899983	0.72754	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.74632	-0.86	5.5	5.5	0.81552	.	0.309585	0.26804	N	0.022417	T	0.66327	0.2778	N	0.19112	0.55	0.30916	N	0.728595	P	0.48503	0.911	P	0.46585	0.521	T	0.66712	-0.5854	10	0.28530	T	0.3	.	16.1191	0.81329	0.0:0.0:1.0:0.0	.	275	Q4G112	HSF5_HUMAN	Y	175;275	ENSP00000313243:S275Y	ENSP00000313243:S275Y	S	-	2	0	HSF5	53912354	0.985000	0.35326	0.991000	0.47740	0.980000	0.70556	4.549000	0.60726	2.586000	0.87340	0.655000	0.94253	TCT		0.473	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190	
NLRP1	22861	broad.mit.edu	37	17	5461830	5461830	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:5461830G>A	ENST00000572272.1	-	4	2185	c.2186C>T	c.(2185-2187)aCg>aTg	p.T729M	NLRP1_ENST00000354411.3_Missense_Mutation_p.T729M|NLRP1_ENST00000577119.1_Missense_Mutation_p.T729M|NLRP1_ENST00000262467.5_Missense_Mutation_p.T729M|NLRP1_ENST00000269280.4_Missense_Mutation_p.T729M|NLRP1_ENST00000345221.3_Missense_Mutation_p.T729M|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	729					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.T729M(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGTCAGGAACGTTTTGTTCCG	0.532																																					p.T729M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2186T	17						.						80.0	79.0	79.0					17																	5461830		2203	4300	6503	5402554	SO:0001583	missense	22861	exon4			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2186C>T	17.37:g.5461830G>A	ENSP00000460475:p.Thr729Met	Somatic		Capture	Illumina HiSeq	Phase_I	5402554	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005311	0.35415	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	3.91	-2.8	0.05823	.	1.717000	0.03329	N	0.193088	T	0.40222	0.1108	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D	0.64830	0.994;0.994;0.989;0.994;0.989	P;P;B;P;P	0.50617	0.646;0.646;0.443;0.646;0.54	T	0.30937	-0.9961	10	0.62326	D	0.03	.	1.2523	0.01985	0.1451:0.1981:0.3681:0.2888	.	729;729;729;729;729	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	M	729	ENSP00000442029:T729M;ENSP00000262467:T729M;ENSP00000269280:T729M;ENSP00000346390:T729M;ENSP00000324366:T729M	ENSP00000262467:T729M	T	-	2	0	NLRP1	5402554	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.382000	0.07408	-0.567000	0.06046	-1.067000	0.02272	ACG		0.532	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
NLRP1	22861	broad.mit.edu	37	17	5485321	5485321	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:5485321G>A	ENST00000572272.1	-	3	509	c.510C>T	c.(508-510)agC>agT	p.S170S	NLRP1_ENST00000354411.3_Silent_p.S170S|NLRP1_ENST00000577119.1_Silent_p.S170S|NLRP1_ENST00000262467.5_Silent_p.S170S|NLRP1_ENST00000269280.4_Silent_p.S170S|NLRP1_ENST00000345221.3_Silent_p.S170S|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	170					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.S170S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTGACTCCTGGCTTGGAGACT	0.567																																					p.S170S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510T	17						.						43.0	47.0	46.0					17																	5485321		2203	4300	6503	5426045	SO:0001819	synonymous_variant	22861	exon3			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.510C>T	17.37:g.5485321G>A		Somatic		Capture	Illumina HiSeq	Phase_I	5426045	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.567	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
TEX14	56155	broad.mit.edu	37	17	56649328	56649328	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:56649328G>T	ENST00000240361.8	-	25	3894	c.3809C>A	c.(3808-3810)tCt>tAt	p.S1270Y	TEX14_ENST00000349033.5_Missense_Mutation_p.S1224Y|TEX14_ENST00000389934.3_Missense_Mutation_p.S1264Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	1270					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.S1270Y(1)|p.S1224Y(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTAAGGAGAGAATCCAGTTT	0.428																																					p.S1264Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3791A	17						.						94.0	88.0	90.0					17																	56649328		2203	4300	6503	54004327	SO:0001583	missense	56155	exon25			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3809C>A	17.37:g.56649328G>T	ENSP00000240361:p.Ser1270Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54004327	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465671	0.43839	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.81499	-1.5;-1.5;-1.5	5.18	5.18	0.71444	.	0.210217	0.34386	N	0.004019	D	0.86163	0.5867	L	0.59436	1.845	0.34755	D	0.732169	D;D;D	0.65815	0.981;0.995;0.989	P;D;P	0.63283	0.726;0.913;0.859	D	0.90280	0.4314	10	0.72032	D	0.01	-13.0409	14.071	0.64858	0.0:0.0:1.0:0.0	.	1270;1224;1264	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1270;1264;1224	ENSP00000240361:S1270Y;ENSP00000374584:S1264Y;ENSP00000268910:S1224Y	ENSP00000240361:S1270Y	S	-	2	0	TEX14	54004327	0.979000	0.34478	0.940000	0.37924	0.154000	0.21943	2.940000	0.49003	2.701000	0.92244	0.655000	0.94253	TCT		0.428	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TRIM37	4591	broad.mit.edu	37	17	57057639	57057639	+	IGR	SNP	G	G	T	rs541132971		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:57057639G>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.E505D	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E505D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATTGGACAGAGAACTCTTTTC	0.488									Mulibrey Nanism				G|||	1	0.000199681	0.0008	0.0	5008	,	,		24504	0.0		0.0	False		,,,				2504	0.0				p.E505D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1515T	17						.						132.0	124.0	127.0					17																	57057639		2203	4300	6503	54412421	SO:0001628	intergenic_variant	22843	exon7	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057639G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54412421	NM_014906	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288124	0.40494	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.20332	2.08	5.71	4.71	0.59529	.	0.280895	0.40222	N	0.001157	T	0.32556	0.0833	L	0.29908	0.895	0.46654	D	0.999145	D;D	0.76494	0.999;0.999	D;D	0.69142	0.945;0.962	T	0.04976	-1.0914	10	0.51188	T	0.08	-10.4101	13.5306	0.61619	0.0785:0.0:0.9215:0.0	.	514;505	Q8WY54-3;Q8WY54-2	.;.	D	505;356	ENSP00000312411:E505D	ENSP00000312411:E505D	E	+	3	2	PPM1E	54412421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.818000	0.62657	1.361000	0.45981	0.491000	0.48974	GAG		0.488	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294	
TRIM37	4591	broad.mit.edu	37	17	57057739	57057739	+	IGR	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:57057739G>A	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.D539N	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D539N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCACCAGCCGACCTAGGCTA	0.532									Mulibrey Nanism																												p.D539N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1615A	17						.						88.0	85.0	86.0					17																	57057739		2203	4300	6503	54412521	SO:0001628	intergenic_variant	22843	exon7	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057739G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54412521	NM_014906	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612923	0.87258	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.32753	1.44	5.84	5.84	0.93424	.	0.141592	0.64402	D	0.000007	T	0.48502	0.1503	L	0.32530	0.975	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.44862	-0.9300	10	0.87932	D	0	-1.1557	19.7315	0.96183	0.0:0.0:1.0:0.0	.	548;539	Q8WY54-3;Q8WY54-2	.;.	N	539;390	ENSP00000312411:D539N	ENSP00000312411:D539N	D	+	1	0	PPM1E	54412521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.198000	0.94994	2.768000	0.95171	0.491000	0.48974	GAC		0.532	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294	
DHX40	79665	broad.mit.edu	37	17	57676753	57676753	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:57676753G>T	ENST00000251241.4	+	14	1862	c.1715G>T	c.(1714-1716)tGg>tTg	p.W572L	DHX40_ENST00000451169.2_Missense_Mutation_p.W524L|DHX40_ENST00000425628.3_Missense_Mutation_p.W495L	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	572							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.W572L(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAGCTTCATGGTGCCAAAAA	0.368																																					p.W572L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1715T	17						.						6.0	7.0	7.0					17																	57676753		1871	3629	5500	55031535	SO:0001583	missense	79665	exon14			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1715G>T	17.37:g.57676753G>T	ENSP00000251241:p.Trp572Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55031535	NM_024612	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856359	0.51376	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.02525	4.26;4.26	6.04	6.04	0.98038	.	0.052584	0.85682	D	0.000000	T	0.20901	0.0503	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.857	T	0.00084	-1.2099	10	0.87932	D	0	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	495;572	F5H625;Q8IX18	.;DHX40_HUMAN	L	572;495;572;524	ENSP00000251241:W572L;ENSP00000396039:W524L	ENSP00000251241:W572L	W	+	2	0	DHX40	55031535	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.203000	0.95033	2.873000	0.98535	0.561000	0.74099	TGG		0.368	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	
DHX40	79665	broad.mit.edu	37	17	57679935	57679935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:57679935G>A	ENST00000251241.4	+	15	2006	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DHX40_ENST00000451169.2_Missense_Mutation_p.R572Q|DHX40_ENST00000425628.3_Missense_Mutation_p.R543Q	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	620							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.R620Q(3)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAGTACTACGAAGATGTCTT	0.338																																					p.R620Q												.	.	3	Substitution - Missense(3)	prostate(2)|large_intestine(1)	c.G1859A	17						.						76.0	80.0	78.0					17																	57679935		2203	4300	6503	55034717	SO:0001583	missense	79665	exon15			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1859G>A	17.37:g.57679935G>A	ENSP00000251241:p.Arg620Gln	Somatic		Capture	Illumina HiSeq	Phase_I	55034717	NM_024612	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259773	0.95368	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.04758	3.94;3.56	5.81	5.81	0.92471	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.71871	2.18	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00035	-1.2262	10	0.34782	T	0.22	.	19.4253	0.94739	0.0:0.0:1.0:0.0	.	543;620	F5H625;Q8IX18	.;DHX40_HUMAN	Q	620;543;620;572	ENSP00000251241:R620Q;ENSP00000396039:R572Q	ENSP00000251241:R620Q	R	+	2	0	DHX40	55034717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.709000	0.68384	2.906000	0.99361	0.655000	0.94253	CGA		0.338	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612	
RPS6KB1	6198	broad.mit.edu	37	17	58023973	58023973	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:58023973C>A	ENST00000225577.4	+	15	1423	c.1402C>A	c.(1402-1404)Cct>Act	p.P468T	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P445T|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P415T|RP11-178C3.1_ENST00000591035.1_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	468	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.P468T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CACAGCAAATCCTCAGACACC	0.488																																					p.P468T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1402A	17						.						60.0	55.0	56.0					17																	58023973		2203	4300	6503	55378755	SO:0001583	missense	6198	exon15			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1402C>A	17.37:g.58023973C>A	ENSP00000225577:p.Pro468Thr	Somatic		Capture	Illumina HiSeq	Phase_I	55378755	NM_003161	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	C	4.130	0.022408	0.08006	.	.	ENSG00000108443	ENST00000443572;ENST00000225577;ENST00000393021	T;T;T	0.70399	-0.48;-0.3;-0.27	5.23	4.21	0.49690	.	0.354327	0.32548	N	0.005959	T	0.49847	0.1581	N	0.24115	0.695	0.27041	N	0.964003	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22800	-1.0206	10	0.13470	T	0.59	.	7.3178	0.26511	0.3788:0.5:0.1212:0.0	.	445;468	F6UYM1;P23443	.;KS6B1_HUMAN	T	445;468;415	ENSP00000441993:P445T;ENSP00000225577:P468T;ENSP00000376744:P415T	ENSP00000225577:P468T	P	+	1	0	RPS6KB1	55378755	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.279000	0.43435	2.430000	0.82344	0.655000	0.94253	CCT		0.488	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161	
USP32	84669	broad.mit.edu	37	17	58288376	58288376	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:58288376G>A	ENST00000300896.4	-	21	2616	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	USP32_ENST00000592339.1_Missense_Mutation_p.R478W	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	808	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R808W(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTACCCGAAGCTTTAAT	0.333																																					p.R808W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2422T	17						.						12.0	13.0	13.0					17																	58288376		2178	4264	6442	55643158	SO:0001583	missense	84669	exon21			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2422C>T	17.37:g.58288376G>A	ENSP00000300896:p.Arg808Trp	Somatic		Capture	Illumina HiSeq	Phase_I	55643158	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933593	0.73442	.	.	ENSG00000170832	ENST00000300896	T	0.30448	1.53	5.26	5.26	0.73747	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.82716	2.605	0.80722	D	1	D	0.57257	0.979	D	0.66351	0.943	T	0.63404	-0.6645	10	0.87932	D	0	.	15.5755	0.76380	0.0:0.0:0.8617:0.1383	.	808	Q8NFA0	UBP32_HUMAN	W	808	ENSP00000300896:R808W	ENSP00000300896:R808W	R	-	1	2	USP32	55643158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.162000	0.50755	2.615000	0.88500	0.655000	0.94253	CGG		0.333	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
BCAS3	54828	broad.mit.edu	37	17	58946025	58946025	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:58946025G>T	ENST00000390652.5	+	8	596	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	BCAS3_ENST00000589222.1_Missense_Mutation_p.D189Y|BCAS3_ENST00000408905.3_Missense_Mutation_p.D189Y|BCAS3_ENST00000588462.1_Missense_Mutation_p.D189Y|BCAS3_ENST00000407086.3_Missense_Mutation_p.D189Y	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.D189Y(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACCTATTTATGATCTCCATTG	0.393																																					p.D189Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565T	17						.						145.0	131.0	135.0					17																	58946025		1831	4085	5916	56300807	SO:0001583	missense	54828	exon8			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.565G>T	17.37:g.58946025G>T	ENSP00000375067:p.Asp189Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56300807	NM_001099432		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358423	0.82243	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.56611	0.45;0.45;0.45	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.995;0.995	T	0.74856	-0.3522	10	0.72032	D	0.01	.	18.6469	0.91413	0.0:0.0:1.0:0.0	.	189;189;189	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	Y	189	ENSP00000375067:D189Y;ENSP00000385323:D189Y;ENSP00000386173:D189Y	ENSP00000375067:D189Y	D	+	1	0	BCAS3	56300807	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.095000	0.94175	2.694000	0.91930	0.645000	0.84053	GAT		0.393	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	
BRIP1	83990	broad.mit.edu	37	17	59761021	59761021	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:59761021G>T	ENST00000259008.2	-	20	3653	c.3386C>A	c.(3385-3387)tCt>tAt	p.S1129Y		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1129					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1129Y(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAAATAGATAGATTCATCTTC	0.348			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													p.S1129Y		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3386A	17						.						72.0	72.0	72.0					17																	59761021		2203	4300	6503	57115803	SO:0001583	missense	83990	exon20			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3386C>A	17.37:g.59761021G>T	ENSP00000259008:p.Ser1129Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57115803	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571081	0.65765	.	.	ENSG00000136492	ENST00000259008	D	0.81996	-1.56	5.6	5.6	0.85130	.	0.193404	0.37393	N	0.002120	D	0.85566	0.5726	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83663	0.0162	9	.	.	.	-15.3221	13.1739	0.59615	0.0:0.1599:0.8401:0.0	.	1129	Q9BX63	FANCJ_HUMAN	Y	1129	ENSP00000259008:S1129Y	.	S	-	2	0	BRIP1	57115803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.934000	0.48956	2.786000	0.95864	0.563000	0.77884	TCT		0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
BRIP1	83990	broad.mit.edu	37	17	59793411	59793411	+	Missense_Mutation	SNP	C	C	T	rs375082407		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:59793411C>T	ENST00000259008.2	-	17	2660	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.R798Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	798					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R798Q(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATTGTATTGTCGTTTTAGTTC	0.318			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													p.R798Q		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2393A	17						.	C	GLN/ARG	0,4406		0,0,2203	51.0	47.0	48.0		2393	5.6	1.0	17		48	1,8599		0,1,4299	no	missense	BRIP1	NM_032043.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	798/1250	59793411	1,13005	2203	4300	6503	57148193	SO:0001583	missense	83990	exon17			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2393G>A	17.37:g.59793411C>T	ENSP00000259008:p.Arg798Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57148193	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592757	0.66219	0.0	1.16E-4	ENSG00000136492	ENST00000259008	D	0.92545	-3.06	5.63	5.63	0.86233	Helicase, ATP-dependent, c2 type (1);	0.057443	0.64402	D	0.000002	D	0.94679	0.8284	L	0.49126	1.545	0.40705	D	0.982513	D;D	0.89917	1.0;1.0	D;D	0.72625	0.958;0.978	D	0.93914	0.7199	9	.	.	.	-9.3341	18.6735	0.91519	0.0:1.0:0.0:0.0	.	798;798	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Q	798	ENSP00000259008:R798Q	.	R	-	2	0	BRIP1	57148193	1.000000	0.71417	0.956000	0.39512	0.380000	0.30137	3.639000	0.54339	2.646000	0.89796	0.561000	0.74099	CGA		0.318	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
TLK2	11011	broad.mit.edu	37	17	60657490	60657490	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:60657490G>A	ENST00000326270.9	+	16	1639	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	TLK2_ENST00000343388.7_Silent_p.T403T|TLK2_ENST00000582809.1_Silent_p.T286T|TLK2_ENST00000346027.5_Silent_p.T435T|TLK2_ENST00000542523.1_Silent_p.T403T	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	457					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T457T(1)|p.T434T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCATCCAACGCTAAATGACA	0.393																																					p.T435T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1305A	17						.						176.0	150.0	159.0					17																	60657490		2203	4300	6503	58011222	SO:0001819	synonymous_variant	11011	exon15			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1371G>A	17.37:g.60657490G>A		Somatic		Capture	Illumina HiSeq	Phase_I	58011222	NM_006852	D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37																																																																																					0.393	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
MRC2	9902	broad.mit.edu	37	17	60742035	60742035	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:60742035G>A	ENST00000303375.5	+	2	647	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	82	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.R82Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGGTCTCCCGAAACCGGCTA	0.652																																					p.R82Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G245A	17						.						68.0	68.0	68.0					17																	60742035		2203	4300	6503	58095767	SO:0001583	missense	9902	exon2			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.245G>A	17.37:g.60742035G>A	ENSP00000307513:p.Arg82Gln	Somatic		Capture	Illumina HiSeq	Phase_I	58095767	NM_006039	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482361	0.96307	.	.	ENSG00000011028	ENST00000303375	T	0.29397	1.57	5.23	5.23	0.72850	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.14587	-1.0467	10	0.07644	T	0.81	-15.6513	18.8087	0.92048	0.0:0.0:1.0:0.0	.	82	Q9UBG0	MRC2_HUMAN	Q	82	ENSP00000307513:R82Q	ENSP00000307513:R82Q	R	+	2	0	MRC2	58095767	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.444000	0.97578	2.450000	0.82876	0.561000	0.74099	CGA		0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		
MARCH10	162333	broad.mit.edu	37	17	60813872	60813872	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:60813872A>T	ENST00000311269.5	-	6	1631	c.1357T>A	c.(1357-1359)Tac>Aac	p.Y453N	RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Y491N|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.Y452N|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.Y453N	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	453					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Y453N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GAAATAAAGTAGTCAAGAGAA	0.393																																					p.Y453N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1357A	17						.						87.0	87.0	87.0					17																	60813872		2203	4300	6503	58167604	SO:0001583	missense	162333	exon6			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1357T>A	17.37:g.60813872A>T	ENSP00000311496:p.Tyr453Asn	Somatic		Capture	Illumina HiSeq	Phase_I	58167604	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875009	0.33162	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.12569	2.67;2.67;2.67	5.55	4.41	0.53225	.	0.889887	0.09785	N	0.756178	T	0.15998	0.0385	L	0.57536	1.79	0.09310	N	1	P;P;P	0.44380	0.744;0.834;0.744	B;B;B	0.40285	0.174;0.325;0.174	T	0.14337	-1.0476	10	0.44086	T	0.13	8.2622	8.1506	0.31139	0.8215:0.0:0.0:0.1785	.	452;452;453	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	N	453;453;452	ENSP00000416177:Y453N;ENSP00000311496:Y453N;ENSP00000443746:Y452N	ENSP00000311496:Y453N	Y	-	1	0	MARCH10	58167604	0.002000	0.14202	0.014000	0.15608	0.297000	0.27493	0.408000	0.21065	2.114000	0.64651	0.459000	0.35465	TAC		0.393	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
WSCD1	23302	broad.mit.edu	37	17	5991341	5991341	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:5991341C>T	ENST00000574946.1	+	3	849	c.459C>T	c.(457-459)ggC>ggT	p.G153G	WSCD1_ENST00000539421.1_Silent_p.G153G|WSCD1_ENST00000574232.1_Silent_p.G153G|WSCD1_ENST00000317744.5_Silent_p.G153G|WSCD1_ENST00000573634.1_Silent_p.G37G			Q658N2	WSCD1_HUMAN	WSC domain containing 1	153	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.G153G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTGACGATGGCCACGAGAGGA	0.547																																					p.G153G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	17						.						156.0	133.0	141.0					17																	5991341		2203	4300	6503	5932065	SO:0001819	synonymous_variant	23302	exon3				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.459C>T	17.37:g.5991341C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5932065	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	CCDS32538.1																																																																																				0.547	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
DDX42	11325	broad.mit.edu	37	17	61895069	61895069	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:61895069C>A	ENST00000578681.1	+	19	2729	c.2128C>A	c.(2128-2130)Cac>Aac	p.H710N	DDX42_ENST00000457800.2_Missense_Mutation_p.H710N|DDX42_ENST00000389924.2_Missense_Mutation_p.H710N|DDX42_ENST00000359353.5_Missense_Mutation_p.H591N|DDX42_ENST00000583590.1_Missense_Mutation_p.H710N|DDX42_ENST00000582985.1_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	710					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.H710N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTACAAGAGTCACTTTGTTGC	0.428																																					p.H710N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2128A	17						.						76.0	75.0	75.0					17																	61895069		2203	4300	6503	59248801	SO:0001583	missense	11325	exon18			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2128C>A	17.37:g.61895069C>A	ENSP00000464050:p.His710Asn	Somatic		Capture	Illumina HiSeq	Phase_I	59248801	NM_203499	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925254	0.34002	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.06449	3.3;3.3	5.29	5.29	0.74685	.	1.484980	0.03562	N	0.227204	T	0.06234	0.0161	N	0.11064	0.09	0.54753	D	0.999983	B;B	0.23490	0.086;0.022	B;B	0.19148	0.024;0.008	T	0.42999	-0.9418	10	0.14656	T	0.56	-12.8748	18.0903	0.89472	0.0:1.0:0.0:0.0	.	256;710	B3KV84;Q86XP3	.;DDX42_HUMAN	N	710;710;427	ENSP00000374574:H710N;ENSP00000390121:H710N	ENSP00000352308:H427N	H	+	1	0	DDX42	59248801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.307000	0.65762	2.757000	0.94681	0.462000	0.41574	CAC		0.428	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	
SCN4A	6329	broad.mit.edu	37	17	62042008	62042008	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:62042008C>A	ENST00000435607.1	-	9	1348	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M424I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	424					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M424I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAAGAAGATCATGTAGGTCT	0.577																																					p.M424I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1272T	17						.						77.0	77.0	77.0					17																	62042008		2039	4194	6233	59395740	SO:0001583	missense	6329	exon9			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1272G>T	17.37:g.62042008C>A	ENSP00000396320:p.Met424Ile	Somatic		Capture	Illumina HiSeq	Phase_I	59395740	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	c	18.78	3.697479	0.68386	.	.	ENSG00000007314	ENST00000435607	D	0.98381	-4.9	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	M	0.64080	1.96	0.58432	D	0.999998	P	0.42337	0.776	B	0.32624	0.149	D	0.96645	0.9477	10	0.45353	T	0.12	.	17.2433	0.87021	0.0:1.0:0.0:0.0	.	424	P35499	SCN4A_HUMAN	I	424	ENSP00000396320:M424I	ENSP00000396320:M424I	M	-	3	0	SCN4A	59395740	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.645000	0.83430	2.533000	0.85409	0.457000	0.33378	ATG		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
SCN4A	6329	broad.mit.edu	37	17	62050150	62050150	+	Missense_Mutation	SNP	G	G	A	rs78592515	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:62050150G>A	ENST00000435607.1	-	1	128	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R18C|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	18					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R18C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGAAGGGGCGCAAGCACTCA	0.652													G|||	9	0.00179712	0.0	0.0	5008	,	,		15850	0.0089		0.0	False		,,,				2504	0.0				p.R18C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52T	17						.						17.0	19.0	18.0					17																	62050150		2115	4222	6337	59403882	SO:0001583	missense	6329	exon1			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.52C>T	17.37:g.62050150G>A	ENSP00000396320:p.Arg18Cys	Somatic		Capture	Illumina HiSeq	Phase_I	59403882	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	G	17.81	3.480697	0.63849	.	.	ENSG00000007314	ENST00000435607	D	0.96992	-4.2	4.49	4.49	0.54785	.	0.104375	0.64402	D	0.000002	D	0.93494	0.7924	M	0.92026	3.265	0.80722	D	1	P	0.49358	0.923	B	0.39258	0.295	D	0.93797	0.7097	10	0.87932	D	0	.	16.3441	0.83117	0.0:0.0:1.0:0.0	.	18	P35499	SCN4A_HUMAN	C	18	ENSP00000396320:R18C	ENSP00000396320:R18C	R	-	1	0	SCN4A	59403882	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	4.674000	0.61612	2.342000	0.79632	0.305000	0.20034	CGC		0.652	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
MILR1	284021	broad.mit.edu	37	17	62461581	62461581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:62461581G>T	ENST00000605096.1	+	1	13	c.13G>T	c.(13-15)Gaa>Taa	p.E5*		NM_001085423.1	NP_001078892.1	Q7Z6M3	MILR1_HUMAN	mast cell immunoglobulin-like receptor 1	0					mast cell degranulation (GO:0043303)|negative regulation of mast cell activation (GO:0033004)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)											AAAGCTATGAGAAATAATGTG	0.413																																					p.R259I												.	.	0			c.G776T	17						.						66.0	67.0	67.0					17																	62461581		1912	4127	6039	59892042	SO:0001587	stop_gained	284021	exon6			BC053534	CCDS74133.1	17q23.3	2013-01-29	2011-07-12	2011-07-12		ENSG00000271605		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27570	protein-coding gene	gene with protein product	"""allergy inhibitory receptor 1"", ""mast cell antigen 32"""		"""chromosome 17 open reading frame 60"""	C17orf60		20526344	Standard	NM_001085423		Approved	Allergin-1, MCA-32	uc010wpz.2	Q7Z6M3		ENST00000605096.1:c.13G>T	17.37:g.62461581G>T	ENSP00000474420:p.Glu5*	Somatic		Capture	Illumina HiSeq	Phase_I	59892042	NM_001085423	A1L458|B4DUS1|B7ZM50|B9EGN0|D6RUW6|D6RUW8	Missense_Mutation	SNP	ENST00000605096.1	37																																																																																					0.413	MILR1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000469818.1	NM_001085423	
CEP95	90799	broad.mit.edu	37	17	62530773	62530773	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:62530773T>A	ENST00000556440.2	+	17	2498	c.1988T>A	c.(1987-1989)aTc>aAc	p.I663N	CEP95_ENST00000553412.1_Missense_Mutation_p.I499N	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	663						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.I663N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CGACAGCAAATCGTTCGTGCT	0.408																																					p.I663N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1988A	17						.						108.0	104.0	105.0					17																	62530773		1878	4108	5986	59961235	SO:0001583	missense	90799	exon17			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1988T>A	17.37:g.62530773T>A	ENSP00000450461:p.Ile663Asn	Somatic		Capture	Illumina HiSeq	Phase_I	59961235	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661526	0.29515	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.32988	1.43;1.44	5.75	0.923	0.19413	.	0.180765	0.46758	D	0.000280	T	0.17662	0.0424	L	0.34521	1.04	0.09310	N	0.999996	P;P	0.45474	0.773;0.859	B;B	0.37304	0.165;0.246	T	0.13308	-1.0514	10	0.54805	T	0.06	-1.5398	5.9872	0.19440	0.0:0.2645:0.1286:0.6069	.	663;663	A8K3H2;Q96GE4	.;CEP95_HUMAN	N	598;663;499	ENSP00000450461:I663N;ENSP00000450906:I499N	ENSP00000438458:I598N	I	+	2	0	CEP95	59961235	0.992000	0.36948	0.166000	0.22797	0.001000	0.01503	1.955000	0.40372	-0.066000	0.12998	0.528000	0.53228	ATC		0.408	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
GLOD4	51031	broad.mit.edu	37	17	685765	685765	+	5'Flank	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:685765A>G	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.E49E|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.E49E(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGGTGGTGGAACAGAAGCGCG	0.662																																					p.E49E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A147G	17						.						36.0	38.0	37.0					17																	685765		2203	4300	6503	632515	SO:0001631	upstream_gene_variant	55178	exon1			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685765A>G	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	632515	NM_018146	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37																																																																																					0.662	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	
PITPNM3	83394	broad.mit.edu	37	17	6364759	6364759	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:6364759G>T	ENST00000262483.8	-	18	2511	c.2424C>A	c.(2422-2424)ttC>ttA	p.F808L	PITPNM3_ENST00000421306.3_Missense_Mutation_p.F772L|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	808					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.F808L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCCCATCGGAGAAGAAGATCA	0.612																																					p.F808L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2424A	17						.						163.0	148.0	153.0					17																	6364759		2203	4300	6503	6305483	SO:0001583	missense	83394	exon18			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2424C>A	17.37:g.6364759G>T	ENSP00000262483:p.Phe808Leu	Somatic		Capture	Illumina HiSeq	Phase_I	6305483	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522845	0.85600	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.70986	-0.53;-0.53	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.82296	0.5006	M	0.83852	2.665	0.53688	D	0.999974	D;P	0.71674	0.998;0.822	D;P	0.69479	0.964;0.5	D	0.83558	0.0105	10	0.54805	T	0.06	.	9.3225	0.37973	0.0994:0.0:0.9006:0.0	.	772;808	F8WEW5;Q9BZ71	.;PITM3_HUMAN	L	808;772	ENSP00000262483:F808L;ENSP00000407882:F772L	ENSP00000262483:F808L	F	-	3	2	PITPNM3	6305483	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.138000	0.58017	2.293000	0.77203	0.462000	0.41574	TTC		0.612	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
HELZ	9931	broad.mit.edu	37	17	65119099	65119099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:65119099G>A	ENST00000358691.5	-	26	3783	c.3617C>T	c.(3616-3618)tCg>tTg	p.S1206L	HELZ_ENST00000580168.1_Missense_Mutation_p.S1207L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1206						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1206L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAAAGGCACCGACATAACTAC	0.373																																					p.S1206L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3617T	17						.						117.0	107.0	110.0					17																	65119099		1847	4094	5941	62549561	SO:0001583	missense	9931	exon26			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3617C>T	17.37:g.65119099G>A	ENSP00000351524:p.Ser1206Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62549561	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110646	0.56398	.	.	ENSG00000198265	ENST00000358691	D	0.84146	-1.81	5.51	5.51	0.81932	.	0.107490	0.64402	D	0.000003	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	P;P	0.53006	0.715;0.715	D	0.84869	0.0824	10	0.38643	T	0.18	-3.2758	19.7791	0.96410	0.0:0.0:1.0:0.0	.	1207;1206	B7ZLW2;P42694	.;HELZ_HUMAN	L	1206	ENSP00000351524:S1206L	ENSP00000351524:S1206L	S	-	2	0	HELZ	62549561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.174000	0.94824	2.737000	0.93849	0.655000	0.94253	TCG		0.373	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
BPTF	2186	broad.mit.edu	37	17	65944279	65944279	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:65944279C>T	ENST00000321892.4	+	25	8222	c.8161C>T	c.(8161-8163)Cgt>Tgt	p.R2721C	BPTF_ENST00000306378.6_Missense_Mutation_p.R2595C|BPTF_ENST00000424123.3_Missense_Mutation_p.R2439C|BPTF_ENST00000335221.5_Missense_Mutation_p.R2578C|RP11-855A2.3_ENST00000577385.1_RNA			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2721					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R2595C(1)|p.R2578C(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAACGGAAGCGTGAAGAGAG	0.418																																					p.R2595C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7783T	17						.						132.0	141.0	138.0					17																	65944279		2203	4300	6503	63374741	SO:0001583	missense	2186	exon23			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8161C>T	17.37:g.65944279C>T	ENSP00000315454:p.Arg2721Cys	Somatic		Capture	Illumina HiSeq	Phase_I	63374741	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	16.97	3.267973	0.59540	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.65549	2.72;-0.16;2.72	5.53	5.53	0.82687	.	.	.	.	.	T	0.78984	0.4370	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.965;0.992;0.992	T	0.80236	-0.1466	9	0.72032	D	0.01	-7.5253	19.4479	0.94855	0.0:1.0:0.0:0.0	.	399;2595;2578	B4DJV8;Q12830-2;Q12830-4	.;.;.	C	2595;2578;2721;249	ENSP00000307208:R2595C;ENSP00000334351:R2578C;ENSP00000315454:R2721C	ENSP00000307208:R2595C	R	+	1	0	BPTF	63374741	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	3.800000	0.55537	2.594000	0.87642	0.563000	0.77884	CGT		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
AMZ2	51321	broad.mit.edu	37	17	66250642	66250642	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:66250642C>A	ENST00000359904.3	+	5	1816	c.684C>A	c.(682-684)gaC>gaA	p.D228E	AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.D170E|AMZ2_ENST00000392720.2_Missense_Mutation_p.D228E|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.D228E|AMZ2_ENST00000580753.1_Missense_Mutation_p.D228E|AMZ2_ENST00000577985.1_Missense_Mutation_p.D228E	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	228							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D228E(1)|p.D170E(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCAAGTGACTATTCAATTT	0.353																																					p.D228E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C684A	17						.						86.0	83.0	84.0					17																	66250642		2203	4300	6503	63762237	SO:0001583	missense	51321	exon6			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.684C>A	17.37:g.66250642C>A	ENSP00000352976:p.Asp228Glu	Somatic		Capture	Illumina HiSeq	Phase_I	63762237	NM_001033570	A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756772	0.15846	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.51574	0.7;0.7;0.7	5.12	4.14	0.48551	Metallopeptidase, catalytic domain (1);	0.295721	0.23321	N	0.049460	T	0.36276	0.0961	L	0.45352	1.415	0.80722	D	1	B;B	0.18968	0.032;0.032	B;B	0.23419	0.028;0.046	T	0.14062	-1.0486	10	0.22109	T	0.4	-27.3633	7.2406	0.26094	0.1711:0.7422:0.0:0.0866	.	170;228	A6NLD9;Q86W34	.;AMZ2_HUMAN	E	228;170;228	ENSP00000352976:D228E;ENSP00000352831:D170E;ENSP00000376481:D228E	ENSP00000352831:D170E	D	+	3	2	AMZ2	63762237	0.998000	0.40836	0.995000	0.50966	0.170000	0.22686	0.448000	0.21726	1.476000	0.48215	0.632000	0.83419	GAC		0.353	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	
ABCA8	10351	broad.mit.edu	37	17	66881414	66881414	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:66881414C>T	ENST00000269080.2	-	25	3489	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1158K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1158K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1118					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E1118K(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATATCACTTTCGAAGATACTG	0.363																																					p.E1118K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3352A	17						.						90.0	82.0	85.0					17																	66881414		2203	4300	6503	64393009	SO:0001583	missense	10351	exon25			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3352G>A	17.37:g.66881414C>T	ENSP00000269080:p.Glu1118Lys	Somatic		Capture	Illumina HiSeq	Phase_I	64393009	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	2.199	-0.383462	0.04966	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.87412	-2.25;-2.25	4.43	3.46	0.39613	.	1.275760	0.05374	N	0.536051	D	0.83575	0.5284	L	0.61218	1.895	0.09310	N	1	B;B;B	0.21821	0.061;0.03;0.037	B;B;B	0.19666	0.026;0.015;0.026	T	0.65759	-0.6090	10	0.06757	T	0.87	.	8.286	0.31928	0.0:0.8945:0.0:0.1055	.	1158;1158;1118	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	K	1118;1158	ENSP00000269080:E1118K;ENSP00000402814:E1158K	ENSP00000269080:E1118K	E	-	1	0	ABCA8	64393009	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.069000	0.11542	1.462000	0.47948	0.655000	0.94253	GAA		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA9	10350	broad.mit.edu	37	17	66972317	66972317	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:66972317C>T	ENST00000340001.4	-	38	4946	c.4735G>A	c.(4735-4737)Gac>Aac	p.D1579N	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.D1541N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1579					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1579N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCCTCCAGGTCGAAACTCTGT	0.368																																					p.D1579N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4735A	17						.						93.0	85.0	88.0					17																	66972317		2203	4300	6503	64483912	SO:0001583	missense	10350	exon38			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4735G>A	17.37:g.66972317C>T	ENSP00000342216:p.Asp1579Asn	Somatic		Capture	Illumina HiSeq	Phase_I	64483912	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	0.240	-1.014126	0.02095	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	T	0.74421	-0.84	4.92	-2.62	0.06152	.	0.262469	0.26149	N	0.026060	T	0.44993	0.1320	N	0.11313	0.125	0.48830	D	0.999716	B	0.06786	0.001	B	0.06405	0.002	T	0.45659	-0.9246	10	0.02654	T	1	.	10.6362	0.45567	0.0:0.3711:0.0:0.6289	.	1579	Q8IUA7	ABCA9_HUMAN	N	1579;1524	ENSP00000342216:D1579N	ENSP00000342216:D1579N	D	-	1	0	ABCA9	64483912	0.000000	0.05858	0.006000	0.13384	0.420000	0.31355	0.405000	0.21015	-0.332000	0.08489	0.609000	0.83330	GAC		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	66980214	66980214	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:66980214C>A	ENST00000340001.4	-	35	4693	c.4482G>T	c.(4480-4482)atG>atT	p.M1494I	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1456I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1494	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M1494I(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCCTGACACCATGATGGCCA	0.597																																					p.M1494I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4482T	17						.						89.0	76.0	81.0					17																	66980214		2203	4300	6503	64491809	SO:0001583	missense	10350	exon35			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4482G>T	17.37:g.66980214C>A	ENSP00000342216:p.Met1494Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64491809	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962730	0.74016	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.99270	-5.66	4.86	3.82	0.43975	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.314863	0.23777	N	0.044666	D	0.97498	0.9181	N	0.25890	0.77	0.80722	D	1	P	0.37663	0.604	B	0.41646	0.362	D	0.98059	1.0392	10	0.72032	D	0.01	.	13.3001	0.60319	0.1586:0.8414:0.0:0.0	.	1494	Q8IUA7	ABCA9_HUMAN	I	1494;1439	ENSP00000342216:M1494I	ENSP00000342216:M1494I	M	-	3	0	ABCA9	64491809	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.501000	0.53325	2.414000	0.81942	0.655000	0.94253	ATG		0.597	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	66988345	66988345	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:66988345C>A	ENST00000340001.4	-	28	3898	c.3687G>T	c.(3685-3687)aaG>aaT	p.K1229N	ABCA9_ENST00000370732.2_Missense_Mutation_p.K1229N|ABCA9_ENST00000453985.2_Missense_Mutation_p.K1191N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1229					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1229N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCATTAGTTTCTTCCTGCAGT	0.328																																					p.K1229N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3687T	17						.						71.0	61.0	64.0					17																	66988345		2203	4296	6499	64499940	SO:0001583	missense	10350	exon28			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3687G>T	17.37:g.66988345C>A	ENSP00000342216:p.Lys1229Asn	Somatic		Capture	Illumina HiSeq	Phase_I	64499940	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263987	0.39995	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.87809	-2.18;-2.3	5.26	5.26	0.73747	.	0.000000	0.49305	D	0.000157	D	0.85243	0.5652	L	0.46567	1.45	0.31472	N	0.6683	D;B	0.54047	0.964;0.126	P;B	0.48627	0.584;0.168	D	0.85254	0.1046	10	0.35671	T	0.21	.	11.2787	0.49181	0.0:0.9068:0.0:0.0932	.	1229;1229	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	N	1229;1174;1229	ENSP00000342216:K1229N;ENSP00000359767:K1229N	ENSP00000342216:K1229N	K	-	3	2	ABCA9	64499940	0.000000	0.05858	0.998000	0.56505	0.093000	0.18481	-0.131000	0.10482	2.469000	0.83416	0.591000	0.81541	AAG		0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	67004264	67004264	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:67004264A>T	ENST00000340001.4	-	24	3471	c.3260T>A	c.(3259-3261)aTa>aAa	p.I1087K	ABCA9_ENST00000370732.2_Missense_Mutation_p.I1087K|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1087K|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1087					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I1087K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATAATCCATTATTTGCATTAG	0.378																																					p.I1087K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3260A	17						.						68.0	78.0	74.0					17																	67004264		2203	4299	6502	64515859	SO:0001583	missense	10350	exon24			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3260T>A	17.37:g.67004264A>T	ENSP00000342216:p.Ile1087Lys	Somatic		Capture	Illumina HiSeq	Phase_I	64515859	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	a	9.840	1.190832	0.21954	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88896	-2.44;-2.44	4.8	2.21	0.28008	.	0.404173	0.20831	N	0.084891	D	0.87748	0.6255	M	0.62723	1.935	0.09310	N	0.999993	P;P	0.47034	0.889;0.828	P;P	0.52066	0.637;0.689	T	0.77208	-0.2672	10	0.33141	T	0.24	.	3.178	0.06575	0.5147:0.2182:0.2672:0.0	.	1087;1087	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	1087;1070;1087;1082	ENSP00000342216:I1087K;ENSP00000359767:I1087K	ENSP00000342216:I1087K	I	-	2	0	ABCA9	64515859	0.005000	0.15991	0.555000	0.28281	0.001000	0.01503	0.252000	0.18278	0.800000	0.34041	-0.417000	0.06048	ATA		0.378	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	67023923	67023923	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:67023923C>A	ENST00000340001.4	-	13	1860	c.1649G>T	c.(1648-1650)aGa>aTa	p.R550I	ABCA9_ENST00000370732.2_Missense_Mutation_p.R550I|ABCA9_ENST00000453985.2_Missense_Mutation_p.R550I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	550	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R550I(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATCAGCCATTCTTGAAAGTGT	0.378																																					p.R550I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649T	17						.						78.0	78.0	78.0					17																	67023923		2203	4300	6503	64535518	SO:0001583	missense	10350	exon13			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1649G>T	17.37:g.67023923C>A	ENSP00000342216:p.Arg550Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64535518	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193485	0.22037	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94000	-3.33;-3.33	5.34	4.27	0.50696	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.406787	0.20317	N	0.094703	D	0.91143	0.7211	L	0.52759	1.655	0.32752	N	0.506277	B;B	0.19445	0.036;0.009	B;B	0.31614	0.133;0.01	D	0.90763	0.4666	10	0.87932	D	0	.	9.7177	0.40284	0.0:0.0849:0.0:0.9151	.	550;550	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	550;533;550;545	ENSP00000342216:R550I;ENSP00000359767:R550I	ENSP00000342216:R550I	R	-	2	0	ABCA9	64535518	0.959000	0.32827	0.060000	0.19600	0.004000	0.04260	3.151000	0.50670	0.983000	0.38602	-0.469000	0.05056	AGA		0.378	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
KIAA0753	9851	broad.mit.edu	37	17	6526315	6526315	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:6526315C>G	ENST00000361413.3	-	6	1349	c.991G>C	c.(991-993)Gct>Cct	p.A331P	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A32P|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A32P	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	331						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A331P(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTACACCGAGCAGGAAGTGGA	0.512																																					p.A331P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991C	17						.						74.0	72.0	73.0					17																	6526315		1920	4130	6050	6467039	SO:0001583	missense	9851	exon6				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.991G>C	17.37:g.6526315C>G	ENSP00000355250:p.Ala331Pro	Somatic		Capture	Illumina HiSeq	Phase_I	6467039	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027281	0.35797	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86297	-2.1;-2.1	5.7	2.49	0.30216	.	0.549869	0.20743	N	0.086510	D	0.87884	0.6290	L	0.55103	1.725	0.23537	N	0.997466	D	0.57571	0.98	P	0.56700	0.804	T	0.78838	-0.2046	10	0.48119	T	0.1	0.0072	8.4789	0.33030	0.0:0.7202:0.0:0.2798	.	331	Q2KHM9	K0753_HUMAN	P	331;32	ENSP00000355250:A331P;ENSP00000444634:A32P	ENSP00000355250:A331P	A	-	1	0	KIAA0753	6467039	0.002000	0.14202	0.568000	0.28447	0.128000	0.20619	-0.218000	0.09240	0.372000	0.24591	-0.355000	0.07637	GCT		0.512	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
KIAA0753	9851	broad.mit.edu	37	17	6531586	6531586	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:6531586G>A	ENST00000361413.3	-	3	927	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	190						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S190L(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGTGGGTGGCGAATTTGGCAC	0.498																																					p.S190L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569T	17						.						138.0	145.0	143.0					17																	6531586		2090	4196	6286	6472310	SO:0001583	missense	9851	exon3				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.569C>T	17.37:g.6531586G>A	ENSP00000355250:p.Ser190Leu	Somatic		Capture	Illumina HiSeq	Phase_I	6472310	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906005	0.33628	.	.	ENSG00000198920	ENST00000361413	T	0.10477	2.87	5.23	5.23	0.72850	.	0.320797	0.30028	N	0.010592	T	0.30854	0.0778	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	P	0.59948	0.866	T	0.01848	-1.1261	10	0.72032	D	0.01	-4.7661	16.669	0.85260	0.0:0.0:1.0:0.0	.	190	Q2KHM9	K0753_HUMAN	L	190	ENSP00000355250:S190L	ENSP00000355250:S190L	S	-	2	0	KIAA0753	6472310	0.952000	0.32445	0.057000	0.19452	0.306000	0.27790	3.591000	0.53986	2.621000	0.88768	0.643000	0.83706	TCG		0.498	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA6	23460	broad.mit.edu	37	17	67119509	67119509	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:67119509T>G	ENST00000284425.2	-	10	1481	c.1307A>C	c.(1306-1308)aAt>aCt	p.N436T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	436					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N436T(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGATGATGAATTCAAGAAAAA	0.363																																					p.N436T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1307C	17						.						100.0	97.0	98.0					17																	67119509		2203	4300	6503	64631104	SO:0001583	missense	23460	exon10			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1307A>C	17.37:g.67119509T>G	ENSP00000284425:p.Asn436Thr	Somatic		Capture	Illumina HiSeq	Phase_I	64631104	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.739293	0.30774	.	.	ENSG00000154262	ENST00000284425	D	0.86164	-2.08	4.91	2.69	0.31865	.	0.379770	0.22014	N	0.065836	T	0.76884	0.4050	N	0.20986	0.625	0.80722	D	1	B	0.29301	0.241	B	0.29353	0.101	T	0.70421	-0.4876	10	0.56958	D	0.05	.	7.8619	0.29514	0.0:0.2491:0.0:0.7509	.	436	Q8N139	ABCA6_HUMAN	T	436	ENSP00000284425:N436T	ENSP00000284425:N436T	N	-	2	0	ABCA6	64631104	0.790000	0.28787	0.636000	0.29352	0.479000	0.33129	1.050000	0.30404	0.445000	0.26639	0.519000	0.50382	AAT		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA5	23461	broad.mit.edu	37	17	67282368	67282368	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:67282368C>T	ENST00000392676.3	-	16	2190	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ABCA5_ENST00000588877.1_Missense_Mutation_p.R709H|ABCA5_ENST00000392677.2_Missense_Mutation_p.R709H			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	709	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R709H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATACCTCAGGCGGTAGCCGAT	0.353																																					p.R709H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2126A	17						.						69.0	65.0	66.0					17																	67282368		2203	4300	6503	64793963	SO:0001583	missense	23461	exon16			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2126G>A	17.37:g.67282368C>T	ENSP00000376443:p.Arg709His	Somatic		Capture	Illumina HiSeq	Phase_I	64793963	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768202	0.15983	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.66460	-0.21;-0.21	5.2	5.2	0.72013	ABC transporter-like (1);	0.000000	0.53938	D	0.000052	T	0.46014	0.1371	N	0.11927	0.2	0.54753	D	0.999985	P;P	0.40875	0.471;0.731	B;B	0.31495	0.131;0.085	T	0.48139	-0.9061	9	.	.	.	.	18.3182	0.90229	0.0:1.0:0.0:0.0	.	709;709	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	H	709	ENSP00000376444:R709H;ENSP00000376443:R709H	.	R	-	2	0	ABCA5	64793963	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	4.284000	0.58983	2.431000	0.82371	0.591000	0.81541	CGC		0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
ABCA5	23461	broad.mit.edu	37	17	67286062	67286062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:67286062C>A	ENST00000392676.3	-	13	1787	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*	ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E575*|ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E575*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	575	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E575*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GATAAATTTTCTTCTACTGTC	0.308																																					p.E575X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1723T	17						.						101.0	98.0	99.0					17																	67286062		2202	4293	6495	64797657	SO:0001587	stop_gained	23461	exon13			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1723G>T	17.37:g.67286062C>A	ENSP00000376443:p.Glu575*	Somatic		Capture	Illumina HiSeq	Phase_I	64797657	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	49	15.689712	0.99842	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5279	0.90980	0.0:1.0:0.0:0.0	.	.	.	.	X	575	.	.	E	-	1	0	ABCA5	64797657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.252000	0.65445	2.478000	0.83669	0.585000	0.79938	GAA		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
FBXO39	162517	broad.mit.edu	37	17	6684108	6684108	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:6684108G>A	ENST00000321535.4	+	2	1051	c.921G>A	c.(919-921)ccG>ccA	p.P307P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	307								p.P307P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGGAGATCCCGATCAGGAGCA	0.532																																					p.P307P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G921A	17						.						59.0	51.0	54.0					17																	6684108		2203	4300	6503	6624832	SO:0001819	synonymous_variant	162517	exon2			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.921G>A	17.37:g.6684108G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6624832	NM_153230		Silent	SNP	ENST00000321535.4	37	CCDS11082.1																																																																																				0.532	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230	
ABCA5	23461	broad.mit.edu	37	17	67287456	67287456	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:67287456C>A	ENST00000392676.3	-	12	1571	c.1507G>T	c.(1507-1509)Gac>Tac	p.D503Y	ABCA5_ENST00000588877.1_Missense_Mutation_p.D503Y|ABCA5_ENST00000392677.2_Missense_Mutation_p.D503Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	503	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D503Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCATATATGTCAAATGACAAA	0.368																																					p.D503Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1507T	17						.						76.0	73.0	74.0					17																	67287456		2203	4300	6503	64799051	SO:0001583	missense	23461	exon12			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1507G>T	17.37:g.67287456C>A	ENSP00000376443:p.Asp503Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64799051	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593416	0.86953	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.94138	-3.36;-3.36	5.56	5.56	0.83823	ABC transporter-like (1);	0.000000	0.64402	D	0.000005	D	0.96790	0.8952	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	D	0.96442	0.9327	9	.	.	.	.	19.1121	0.93319	0.0:1.0:0.0:0.0	.	503;503	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	Y	503	ENSP00000376444:D503Y;ENSP00000376443:D503Y	.	D	-	1	0	ABCA5	64799051	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.138000	0.77305	2.600000	0.87896	0.591000	0.81541	GAC		0.368	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
CLEC10A	10462	broad.mit.edu	37	17	6980268	6980268	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:6980268C>A	ENST00000254868.4	-	4	551	c.223G>T	c.(223-225)Gat>Tat	p.D75Y	CLEC10A_ENST00000571664.1_Missense_Mutation_p.D75Y|CLEC10A_ENST00000416562.2_Missense_Mutation_p.D75Y|CLEC10A_ENST00000576617.1_Missense_Mutation_p.D75Y	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	75					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D75Y(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TTGCTAAAATCTGTTCTCAGG	0.552																																					p.D75Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223T	17						.						109.0	107.0	108.0					17																	6980268		2203	4300	6503	6920992	SO:0001583	missense	10462	exon4			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.223G>T	17.37:g.6980268C>A	ENSP00000254868:p.Asp75Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	6920992	NM_182906	A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527439	0.44969	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T;T	0.17370	2.28;2.28	4.54	-3.86	0.04230	Hepatic lectin, N-terminal (1);	1.096330	0.07004	N	0.823800	T	0.20780	0.0500	L	0.36672	1.1	0.09310	N	1	D;D;D;B	0.62365	0.974;0.979;0.991;0.385	P;P;P;B	0.59115	0.683;0.788;0.852;0.138	T	0.18398	-1.0338	10	0.62326	D	0.03	.	3.4451	0.07478	0.439:0.2844:0.0:0.2767	.	75;75;75;75	Q8IUN9-3;A8K7G0;Q8IUN9;Q8IUN9-2	.;.;CLC10_HUMAN;.	Y	75	ENSP00000254868:D75Y;ENSP00000414938:D75Y	ENSP00000254868:D75Y	D	-	1	0	CLEC10A	6920992	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.883000	0.04170	-0.960000	0.03613	-0.312000	0.09012	GAT		0.552	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344	
SDK2	54549	broad.mit.edu	37	17	71346511	71346511	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:71346511T>C	ENST00000392650.3	-	43	5903	c.5903A>G	c.(5902-5904)aAc>aGc	p.N1968S	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.N1949S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1968					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.N1968S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTGGCACTGTTCCCTGAAGT	0.572																																					p.N1968S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5903G	17						.						89.0	72.0	78.0					17																	71346511		2203	4300	6503	68858106	SO:0001583	missense	54549	exon43			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5903A>G	17.37:g.71346511T>C	ENSP00000376421:p.Asn1968Ser	Somatic		Capture	Illumina HiSeq	Phase_I	68858106	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	T	2.757	-0.258685	0.05791	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.58210	0.35;0.37;1.62	5.54	-2.0	0.07433	.	0.214675	0.47455	N	0.000233	T	0.28400	0.0702	N	0.22421	0.69	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31052	-0.9957	10	0.06757	T	0.87	.	9.9909	0.41870	0.0:0.5845:0.1284:0.2871	.	1968;1949	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	S	1592;1968;1949;1125;1968;309	ENSP00000376421:N1968S;ENSP00000373378:N1949S;ENSP00000407098:N1125S	ENSP00000324967:N1968S	N	-	2	0	SDK2	68858106	0.909000	0.30893	0.010000	0.14722	0.539000	0.34962	0.180000	0.16860	-0.389000	0.07786	-0.274000	0.10170	AAC		0.572	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
DNAI2	64446	broad.mit.edu	37	17	72277998	72277998	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72277998C>T	ENST00000311014.6	+	2	109	c.42C>T	c.(40-42)ttC>ttT	p.F14F	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Silent_p.F14F|DNAI2_ENST00000579490.1_Silent_p.F71F|DNAI2_ENST00000582036.1_Silent_p.F14F			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	14					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.F14F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGCGAGTTCGGGAAGCAGT	0.637									Kartagener syndrome																												p.F14F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C42T	17						.						128.0	107.0	114.0					17																	72277998		2203	4300	6503	69789593	SO:0001819	synonymous_variant	64446	exon2	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.42C>T	17.37:g.72277998C>T		Somatic		Capture	Illumina HiSeq	Phase_I	69789593	NM_023036	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	CCDS11697.1																																																																																				0.637	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
DNAI2	64446	broad.mit.edu	37	17	72281191	72281191	+	Missense_Mutation	SNP	C	C	T	rs371226659		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72281191C>T	ENST00000311014.6	+	3	263	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.R66W|DNAI2_ENST00000579490.1_Missense_Mutation_p.R123W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R66W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	66					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.R66W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAACTCAGAGCGGTTTGAGAT	0.612									Kartagener syndrome																												p.R66W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	17						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	81.0	82.0	81.0		196,196	1.4	1.0	17		81	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	66/594,66/606	72281191	2,13004	2203	4300	6503	69792786	SO:0001583	missense	64446	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.196C>T	17.37:g.72281191C>T	ENSP00000308312:p.Arg66Trp	Somatic		Capture	Illumina HiSeq	Phase_I	69792786	NM_023036	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501974	0.64298	0.0	2.33E-4	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.17691	2.26;2.26	4.92	1.42	0.22433	.	0.172680	0.49305	D	0.000155	T	0.44052	0.1275	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.58047	-0.7705	10	0.72032	D	0.01	-34.3899	13.8458	0.63466	0.5307:0.4693:0.0:0.0	.	66	Q9GZS0	DNAI2_HUMAN	W	66	ENSP00000308312:R66W;ENSP00000400252:R66W	ENSP00000308312:R66W	R	+	1	2	DNAI2	69792786	0.974000	0.33945	0.991000	0.47740	0.988000	0.76386	0.127000	0.15790	0.615000	0.30124	0.556000	0.70494	CGG		0.612	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
CD300A	11314	broad.mit.edu	37	17	72469796	72469796	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72469796G>T	ENST00000360141.3	+	2	450	c.162G>T	c.(160-162)caG>caT	p.Q54H	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	54	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.Q54H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GACCACCACAGATTTTCCTAT	0.557																																					p.Q54H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	17						.						121.0	106.0	111.0					17																	72469796		2203	4300	6503	69981391	SO:0001583	missense	11314	exon2			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.162G>T	17.37:g.72469796G>T	ENSP00000353259:p.Gln54His	Somatic		Capture	Illumina HiSeq	Phase_I	69981391	NM_007261	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	1.713	-0.498636	0.04291	.	.	ENSG00000167851	ENST00000360141	T	0.04156	3.69	3.84	0.137	0.14787	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	11.838100	0.00166	U	0.000002	T	0.02494	0.0076	N	0.03154	-0.405	0.25319	N	0.989136	B	0.06786	0.001	B	0.04013	0.001	T	0.40459	-0.9562	10	0.15499	T	0.54	.	4.9312	0.13917	0.0:0.111:0.3929:0.4961	.	54	Q9UGN4	CLM8_HUMAN	H	54	ENSP00000353259:Q54H	ENSP00000353259:Q54H	Q	+	3	2	CD300A	69981391	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.208000	0.09371	-0.117000	0.11872	0.305000	0.20034	CAG		0.557	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261	
CD300E	342510	broad.mit.edu	37	17	72613295	72613295	+	Missense_Mutation	SNP	C	C	T	rs545591203		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72613295C>T	ENST00000328630.3	-	2	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CD300E_ENST00000392619.1_Missense_Mutation_p.R144H|CD300E_ENST00000426295.2_Missense_Mutation_p.R158H			Q496F6	CLM2_HUMAN	CD300e molecule	117	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R117H(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGAGGGATCGCGTGACCATGA	0.537																																					p.R117H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G350A	17						.						165.0	137.0	147.0					17																	72613295		2203	4300	6503	70124890	SO:0001583	missense	342510	exon2			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.350G>A	17.37:g.72613295C>T	ENSP00000329942:p.Arg117His	Somatic		Capture	Illumina HiSeq	Phase_I	70124890	NM_181449	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800444	0.16397	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.10477	3.67;3.67;3.67;2.87	3.68	-7.35	0.01422	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.024350	0.07838	N	0.962436	T	0.05181	0.0138	L	0.34521	1.04	0.09310	N	1	P	0.51240	0.943	B	0.34590	0.186	T	0.17379	-1.0371	10	0.15499	T	0.54	5.5913	9.4937	0.38976	0.0:0.6276:0.2328:0.1396	.	117	Q496F6	CLM2_HUMAN	H	144;158;117;119	ENSP00000376395:R144H;ENSP00000416642:R158H;ENSP00000329942:R117H;ENSP00000415488:R119H	ENSP00000329942:R117H	R	-	2	0	CD300E	70124890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.824000	0.00747	-2.162000	0.00784	-0.658000	0.03865	CGC		0.537	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449	
TMEM104	54868	broad.mit.edu	37	17	72832175	72832175	+	Silent	SNP	C	C	T	rs148759397		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72832175C>T	ENST00000335464.5	+	10	1002	c.840C>T	c.(838-840)tgC>tgT	p.C280C	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.C280C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	280						integral component of membrane (GO:0016021)		p.C280C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TTGGGGTGTGCGTCTACTCCT	0.622																																					p.C280C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C840T	17						.	C		1,4405	2.1+/-5.4	0,1,2202	146.0	114.0	125.0		840	1.4	1.0	17	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	TMEM104	NM_017728.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		280/497	72832175	1,13005	2203	4300	6503	70343770	SO:0001819	synonymous_variant	54868	exon10			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.840C>T	17.37:g.72832175C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70343770	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	CCDS32723.1																																																																																				0.622	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
GRIN2C	2905	broad.mit.edu	37	17	72842276	72842276	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72842276C>T	ENST00000293190.5	-	11	2425	c.2279G>A	c.(2278-2280)gGc>gAc	p.G760D	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G760D	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	760					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.G760D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATGGCGATGCCGTAGCCAGT	0.592																																					p.G760D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2279A	17						.						187.0	133.0	151.0					17																	72842276		2203	4300	6503	70353871	SO:0001583	missense	2905	exon11				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2279G>A	17.37:g.72842276C>T	ENSP00000293190:p.Gly760Asp	Somatic		Capture	Illumina HiSeq	Phase_I	70353871	NM_000835	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952156	0.53293	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.60548	0.18	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.055068	0.64402	D	0.000001	T	0.80613	0.4656	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.85470	0.1172	10	0.87932	D	0	.	17.2363	0.86999	0.0:1.0:0.0:0.0	.	794;760	Q8IW23;Q14957	.;NMDE3_HUMAN	D	760;794	ENSP00000293190:G760D	ENSP00000293190:G760D	G	-	2	0	GRIN2C	70353871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.599000	0.82757	2.445000	0.82738	0.561000	0.74099	GGC		0.592	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
OTOP2	92736	broad.mit.edu	37	17	72926550	72926550	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:72926550G>T	ENST00000580223.1	+	5	850	c.820G>T	c.(820-822)Ggc>Tgc	p.G274C	OTOP2_ENST00000331427.4_Missense_Mutation_p.G274C			Q7RTS6	OTOP2_HUMAN	otopetrin 2	274						integral component of membrane (GO:0016021)		p.G274C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCCACCCCTGGCCACAGCCA	0.577																																					p.G274C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820T	17						.						130.0	120.0	123.0					17																	72926550		2203	4300	6503	70438145	SO:0001583	missense	92736	exon6			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.820G>T	17.37:g.72926550G>T	ENSP00000463837:p.Gly274Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70438145	NM_178160		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305871	0.23736	.	.	ENSG00000183034	ENST00000331427	T	0.22134	1.97	5.17	0.952	0.19584	.	0.814701	0.11267	N	0.581884	T	0.27524	0.0676	L	0.36672	1.1	0.19575	N	0.999963	D	0.67145	0.996	P	0.59546	0.859	T	0.13575	-1.0504	10	0.56958	D	0.05	-8.2919	6.667	0.23047	0.337:0.1248:0.5381:0.0	.	274	Q7RTS6	OTOP2_HUMAN	C	274	ENSP00000332528:G274C	ENSP00000332528:G274C	G	+	1	0	OTOP2	70438145	0.003000	0.15002	0.152000	0.22495	0.222000	0.24845	-0.097000	0.11042	-0.014000	0.14175	-0.390000	0.06520	GGC		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160	
SLC16A5	9121	broad.mit.edu	37	17	73096362	73096362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:73096362G>T	ENST00000450736.2	+	4	1019	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.E202*|SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.E242*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.E202*			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	202					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.E202*(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGAGACCAAAGAATGTCCCCC	0.637																																					p.E202X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G604T	17						.						50.0	49.0	49.0					17																	73096362		2203	4300	6503	70607957	SO:0001587	stop_gained	9121	exon5			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.604G>T	17.37:g.73096362G>T	ENSP00000390564:p.Glu202*	Somatic		Capture	Illumina HiSeq	Phase_I	70607957	NM_004695	B4E288	Nonsense_Mutation	SNP	ENST00000450736.2	37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285503	0.40394	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	.	.	.	4.58	3.54	0.40534	.	2.030890	0.02078	N	0.052099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.4595	0.67440	0.0:0.0:0.8529:0.1471	.	.	.	.	X	202;202;242	.	ENSP00000330141:E202X	E	+	1	0	SLC16A5	70607957	0.000000	0.05858	0.084000	0.20598	0.018000	0.09664	0.458000	0.21892	2.256000	0.74724	0.561000	0.74099	GAA		0.637	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695	
PHF23	79142	broad.mit.edu	37	17	7139489	7139489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7139489C>A	ENST00000320316.3	-	4	983	c.757G>T	c.(757-759)Gag>Tag	p.E253*	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_Nonsense_Mutation_p.E123*|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Nonsense_Mutation_p.E249*|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_Nonsense_Mutation_p.E186*	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	253	Poly-Glu.						zinc ion binding (GO:0008270)	p.E253*(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						tcttcctcctcttcctcctcc	0.597																																					p.E253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G757T	17						.						69.0	80.0	76.0					17																	7139489		2008	4183	6191	7080213	SO:0001587	stop_gained	79142	exon4			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.757G>T	17.37:g.7139489C>A	ENSP00000322579:p.Glu253*	Somatic		Capture	Illumina HiSeq	Phase_I	7080213	NM_024297	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Nonsense_Mutation	SNP	ENST00000320316.3	37	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165063	0.78339	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	.	.	.	5.18	5.18	0.71444	.	0.249770	0.20764	U	0.086106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-10.8359	14.1706	0.65508	0.0:1.0:0.0:0.0	.	.	.	.	X	253;249	.	ENSP00000322579:E253X	E	-	1	0	PHF23	7080213	0.505000	0.26131	0.999000	0.59377	0.895000	0.52256	1.872000	0.39549	2.405000	0.81733	0.313000	0.20887	GAG		0.597	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297	
PHF23	79142	broad.mit.edu	37	17	7139694	7139694	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7139694C>A	ENST00000320316.3	-	4	778	c.552G>T	c.(550-552)aaG>aaT	p.K184N	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.K54N|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.K180N|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_Missense_Mutation_p.K117N	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	184							zinc ion binding (GO:0008270)	p.K184N(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						ACTTTCGGTTCTTTCGGTCCT	0.612																																					p.K184N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G552T	17						.						52.0	58.0	56.0					17																	7139694		1865	4080	5945	7080418	SO:0001583	missense	79142	exon4			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.552G>T	17.37:g.7139694C>A	ENSP00000322579:p.Lys184Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7080418	NM_024297	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761513	0.49468	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.35048	1.33;1.4	4.92	3.96	0.45880	.	0.065062	0.64402	D	0.000012	T	0.44117	0.1278	L	0.36672	1.1	0.47905	D	0.999548	D;D	0.71674	0.993;0.998	D;D	0.78314	0.977;0.991	T	0.20174	-1.0283	10	0.25106	T	0.35	-11.5255	9.0459	0.36347	0.0:0.9002:0.0:0.0998	.	117;184	B4DLK6;Q9BUL5	.;PHF23_HUMAN	N	184;180	ENSP00000322579:K184N;ENSP00000414607:K180N	ENSP00000322579:K184N	K	-	3	2	PHF23	7080418	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.079000	0.50104	1.293000	0.44690	-0.253000	0.11424	AAG		0.612	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297	
CLDN7	1366	broad.mit.edu	37	17	7163995	7163995	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7163995C>A	ENST00000360325.7	-	3	873	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Missense_Mutation_p.D147Y|CLDN7_ENST00000571881.2_Missense_Mutation_p.R138I|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	147					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.D147Y(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TTATAAAAGTCTGTGACAATC	0.527																																					p.D147Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439T	17						.						82.0	90.0	87.0					17																	7163995		2203	4300	6503	7104719	SO:0001583	missense	1366	exon4			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.439G>T	17.37:g.7163995C>A	ENSP00000353475:p.Asp147Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	7104719	NM_001185022	B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029630	0.75504	.	.	ENSG00000181885	ENST00000360325;ENST00000397317	D;D	0.89617	-2.54;-2.54	4.75	4.75	0.60458	.	0.050191	0.85682	D	0.000000	D	0.95408	0.8509	M	0.92077	3.27	0.47698	D	0.999497	D	0.71674	0.998	D	0.68943	0.961	D	0.96210	0.9152	10	0.87932	D	0	.	15.6247	0.76845	0.0:1.0:0.0:0.0	.	147	O95471	CLD7_HUMAN	Y	147	ENSP00000353475:D147Y;ENSP00000396638:D147Y	ENSP00000353475:D147Y	D	-	1	0	CLDN7	7104719	0.996000	0.38824	1.000000	0.80357	0.795000	0.44927	3.527000	0.53517	2.636000	0.89361	0.313000	0.20887	GAC		0.527	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307	
MIF4GD	57409	broad.mit.edu	37	17	73264234	73264234	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:73264234A>C	ENST00000325102.8	-	3	246	c.122T>G	c.(121-123)aTt>aGt	p.I41S	MIF4GD_ENST00000577542.1_Missense_Mutation_p.I82S|MIF4GD_ENST00000579119.1_Missense_Mutation_p.I41S|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000245551.5_Missense_Mutation_p.I75S|MIF4GD_ENST00000579297.1_Missense_Mutation_p.I82S|MIF4GD_ENST00000580571.1_Missense_Mutation_p.I41S	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	41	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.I75S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ATGGTCCACAATCACATTGGC	0.537																																					p.I75S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T224G	17						.						152.0	114.0	127.0					17																	73264234		2203	4300	6503	70775829	SO:0001583	missense	57409	exon4			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.122T>G	17.37:g.73264234A>C	ENSP00000321625:p.Ile41Ser	Somatic		Capture	Illumina HiSeq	Phase_I	70775829	NM_020679	B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870333	0.51588	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T;T	0.34275	1.37;1.37	5.29	5.29	0.74685	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.106106	0.64402	D	0.000007	T	0.47563	0.1452	M	0.61703	1.905	0.80722	D	1	D;P;D	0.54964	0.969;0.948;0.967	P;P;P	0.50860	0.623;0.466;0.652	T	0.52711	-0.8539	10	0.87932	D	0	-23.0654	14.8832	0.70547	1.0:0.0:0.0:0.0	.	41;75;82	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	S	75;41	ENSP00000245551:I75S;ENSP00000321625:I41S	ENSP00000245551:I75S	I	-	2	0	MIF4GD	70775829	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.701000	0.91331	2.001000	0.58596	0.454000	0.30748	ATT		0.537	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679	
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7296934	7296934	+	Missense_Mutation	SNP	C	C	T	rs199962387		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7296934C>T	ENST00000576362.1	-	2	386	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.E77K|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.E77K|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.E77K|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.E77K|C17orf61-PLSCR3_ENST00000573331.1_3'UTR					TMEM256-PLSCR3 readthrough (NMD candidate)									p.E77K(2)									ACCAGGAATTCGAGGCCAGAA	0.682																																					p.E77K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G229A	17						.						23.0	27.0	26.0					17																	7296934		2024	4160	6184	7237658	SO:0001583	missense	57048	exon3					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.229G>A	17.37:g.7296934C>T	ENSP00000460800:p.Glu77Lys	Somatic		Capture	Illumina HiSeq	Phase_I	7237658	NM_020360		Missense_Mutation	SNP	ENST00000576362.1	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286657	0.80803	.	.	ENSG00000187838	ENST00000535512;ENST00000324822;ENST00000380658	T;T	0.25250	1.81;1.81	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.83012	2.62	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59521	-0.7439	10	0.72032	D	0.01	-13.4048	14.8178	0.70048	0.0:1.0:0.0:0.0	.	77;132	Q9NRY6;D3DTP7	PLS3_HUMAN;.	K	77	ENSP00000438547:E77K;ENSP00000316021:E77K	ENSP00000316021:E77K	E	-	1	0	PLSCR3	7237658	0.993000	0.37304	0.996000	0.52242	0.949000	0.60115	2.885000	0.48570	2.584000	0.87258	0.462000	0.41574	GAA		0.682	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1		
ZACN	353174	broad.mit.edu	37	17	74077425	74077425	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:74077425T>C	ENST00000334586.5	+	6	694	c.611T>C	c.(610-612)gTt>gCt	p.V204A	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	204					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)	p.V203A(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GAATACGTAGTTTATGATCTG	0.562																																					p.V204A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T611C	17						.						181.0	174.0	176.0					17																	74077425		2203	4300	6503	71589020	SO:0001583	missense	353174	exon6			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.611T>C	17.37:g.74077425T>C	ENSP00000334854:p.Val204Ala	Somatic		Capture	Illumina HiSeq	Phase_I	71589020	NM_180990	Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873714	0.91664	.	.	ENSG00000186919	ENST00000334586	T	0.78816	-1.21	4.73	4.73	0.59995	Neurotransmitter-gated ion-channel ligand-binding (2);	0.189036	0.33813	N	0.004521	D	0.84995	0.5596	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.84871	0.0825	10	0.44086	T	0.13	-6.725	11.8179	0.52222	0.0:0.0:0.0:1.0	.	204	Q401N2	ZACN_HUMAN	A	204	ENSP00000334854:V204A	ENSP00000334854:V204A	V	+	2	0	ZACN	71589020	0.096000	0.21769	0.016000	0.15963	0.738000	0.42128	0.975000	0.29449	1.990000	0.58119	0.459000	0.35465	GTT		0.562	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990	
CHRNB1	1140	broad.mit.edu	37	17	7348650	7348650	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7348650C>T	ENST00000306071.2	+	2	187	c.120C>T	c.(118-120)agC>agT	p.S40S	CHRNB1_ENST00000536404.2_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	40					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.S40S(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GCTATGATAGCTCCGTGCGGC	0.667																																					p.S40S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	17						.						18.0	20.0	19.0					17																	7348650		2201	4300	6501	7289374	SO:0001819	synonymous_variant	1140	exon2			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.120C>T	17.37:g.7348650C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7289374	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	CCDS11106.1																																																																																				0.667	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3		
CHRNB1	1140	broad.mit.edu	37	17	7350203	7350203	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7350203G>A	ENST00000306071.2	+	4	362	c.295G>A	c.(295-297)Gat>Aat	p.D99N	CHRNB1_ENST00000536404.2_Missense_Mutation_p.D27N|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|CHRNB1_ENST00000576360.1_Missense_Mutation_p.D27N	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	99					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.D99N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CGACGGCATCGATTCGCTCCG	0.657																																					p.D99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	17						.						35.0	32.0	33.0					17																	7350203		2203	4300	6503	7290927	SO:0001583	missense	1140	exon4			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.295G>A	17.37:g.7350203G>A	ENSP00000304290:p.Asp99Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7290927	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094897	0.36952	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.79247	-1.25;-1.25	5.05	4.07	0.47477	Neurotransmitter-gated ion-channel ligand-binding (3);	0.415568	0.25631	N	0.029357	T	0.63094	0.2482	L	0.31664	0.95	0.19300	N	0.99997	B	0.21452	0.056	B	0.14023	0.01	T	0.51568	-0.8689	10	0.33940	T	0.23	.	7.802	0.29180	0.1856:0.0:0.8144:0.0	.	99	P11230	ACHB_HUMAN	N	99;27	ENSP00000304290:D99N;ENSP00000439209:D27N	ENSP00000304290:D99N	D	+	1	0	CHRNB1	7290927	0.003000	0.15002	0.957000	0.39632	0.942000	0.58702	1.511000	0.35801	1.353000	0.45828	0.491000	0.48974	GAT		0.657	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3		
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R213X	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,+1 	.	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	c.C637T	17	GRCh37	CM951226	TP53	M		.						132.0	118.0	123.0					17																	7578212		2203	4300	6503	7518937	SO:0001587	stop_gained	7157	exon6	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	Somatic		Capture	Illumina HiSeq	Phase_I	7518937	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7578535T>G	ENST00000269305.4	-	5	584	c.395A>C	c.(394-396)aAg>aCg	p.K132T	TP53_ENST00000455263.2_Missense_Mutation_p.K132T|TP53_ENST00000445888.2_Missense_Mutation_p.K132T|TP53_ENST00000359597.4_Missense_Mutation_p.K132T|TP53_ENST00000413465.2_Missense_Mutation_p.K132T|TP53_ENST00000420246.2_Missense_Mutation_p.K132T|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAAACATCTTGTTGAGGGC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.K132T	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,+1 	.	90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(1)	c.A395C	17						.						46.0	47.0	47.0					17																	7578535		2203	4300	6503	7519260	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.395A>C	17.37:g.7578535T>G	ENSP00000269305:p.Lys132Thr	Somatic		Capture	Illumina HiSeq	Phase_I	7519260	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863814	0.71949	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.81497	2.545	0.80722	D	1	D;D;P;D;D;D;D	0.89917	1.0;0.999;0.814;1.0;1.0;0.998;1.0	D;D;P;D;D;D;D	0.97110	0.998;0.996;0.716;0.994;0.998;0.992;1.0	D	0.97421	1.0009	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132T;ENSP00000352610:K132T;ENSP00000269305:K132T;ENSP00000398846:K132T;ENSP00000391127:K132T;ENSP00000391478:K132T;ENSP00000423862:K39T;ENSP00000424104:K132T	ENSP00000269305:K132T	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MGAT5B	146664	broad.mit.edu	37	17	74936840	74936840	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:74936840G>T	ENST00000569840.2	+	15	2332	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	MGAT5B_ENST00000428789.2_Missense_Mutation_p.E595D|MGAT5B_ENST00000301618.4_Missense_Mutation_p.E584D	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	586					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.E584D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTACGCGGAGAACTTCATCG	0.552																																					p.E586D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1758T	17						.						87.0	78.0	81.0					17																	74936840		2203	4300	6503	72448435	SO:0001583	missense	146664	exon14			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1758G>T	17.37:g.74936840G>T	ENSP00000456037:p.Glu586Asp	Somatic		Capture	Illumina HiSeq	Phase_I	72448435	NM_001199172	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900060	0.72754	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.52754	0.65;0.65	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.68593	2.085	0.54753	D	0.999985	D;D	0.67145	0.996;0.99	D;D	0.75484	0.986;0.98	T	0.69712	-0.5071	10	0.54805	T	0.06	-29.0512	15.3448	0.74327	0.0:0.0:1.0:0.0	.	595;584	Q3V5L5-2;Q3V5L5-5	.;.	D	584;595	ENSP00000301618:E584D;ENSP00000391227:E595D	ENSP00000301618:E584D	E	+	3	2	MGAT5B	72448435	1.000000	0.71417	0.997000	0.53966	0.646000	0.38490	3.826000	0.55738	1.847000	0.53656	0.550000	0.68814	GAG		0.552	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
DNAH2	146754	broad.mit.edu	37	17	7668835	7668835	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7668835G>T	ENST00000572933.1	+	21	4923	c.3463G>T	c.(3463-3465)Gac>Tac	p.D1155Y	DNAH2_ENST00000389173.2_Missense_Mutation_p.D1155Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1155	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1155Y(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCGGCAGATGACTTCAAGAA	0.468																																					p.D1155Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3463T	17						.						107.0	101.0	103.0					17																	7668835		2203	4300	6503	7609560	SO:0001583	missense	146754	exon20			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3463G>T	17.37:g.7668835G>T	ENSP00000458355:p.Asp1155Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	7609560	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358256	0.41801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.24151	1.87	4.79	4.79	0.61399	.	0.481200	0.21144	N	0.079434	T	0.28466	0.0704	L	0.40543	1.245	0.80722	D	1	P	0.38767	0.646	B	0.41813	0.367	T	0.06844	-1.0804	10	0.54805	T	0.06	.	16.5968	0.84798	0.0:0.0:1.0:0.0	.	1155	Q9P225	DYH2_HUMAN	Y	1155	ENSP00000373825:D1155Y	ENSP00000353818:D1155Y	D	+	1	0	DNAH2	7609560	1.000000	0.71417	0.977000	0.42913	0.287000	0.27160	6.402000	0.73260	2.206000	0.71126	0.561000	0.74099	GAC		0.468	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7678173	7678173	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7678173G>A	ENST00000572933.1	+	29	6058	c.4598G>A	c.(4597-4599)cGc>cAc	p.R1533H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1533H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1533	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1533H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTTTCCCCCGCTTCTACTTC	0.458																																					p.R1533H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4598A	17						.						100.0	96.0	98.0					17																	7678173		2203	4300	6503	7618898	SO:0001583	missense	146754	exon28			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4598G>A	17.37:g.7678173G>A	ENSP00000458355:p.Arg1533His	Somatic		Capture	Illumina HiSeq	Phase_I	7618898	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258795	0.95368	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.92752	-3.1	5.44	5.44	0.79542	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.98049	0.9357	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	10	0.87932	D	0	.	18.0492	0.89342	0.0:0.0:1.0:0.0	.	1533	Q9P225	DYH2_HUMAN	H	1533	ENSP00000373825:R1533H	ENSP00000353818:R1533H	R	+	2	0	DNAH2	7618898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.659000	0.98597	2.565000	0.86533	0.637000	0.83480	CGC		0.458	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7689469	7689469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7689469C>T	ENST00000572933.1	+	40	7617	c.6157C>T	c.(6157-6159)Cga>Tga	p.R2053*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R2053*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2053	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2053*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGGAGATTCGAGACATGGG	0.537																																					p.R2053X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6157T	17						.						80.0	73.0	76.0					17																	7689469		2203	4300	6503	7630194	SO:0001587	stop_gained	146754	exon39			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6157C>T	17.37:g.7689469C>T	ENSP00000458355:p.Arg2053*	Somatic		Capture	Illumina HiSeq	Phase_I	7630194	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	46	12.100537	0.99636	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.29	3.25	0.37280	.	0.556685	0.18713	N	0.133247	.	.	.	.	.	.	0.20074	N	0.999936	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	11.3542	0.49607	0.4791:0.5209:0.0:0.0	.	.	.	.	X	2053	.	ENSP00000353818:R2053X	R	+	1	2	DNAH2	7630194	0.204000	0.23447	0.022000	0.16811	0.993000	0.82548	1.718000	0.38001	0.764000	0.33197	0.555000	0.69702	CGA		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
RNF213	57674	broad.mit.edu	37	17	78320367	78320367	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:78320367G>T	ENST00000582970.1	+	29	8375	c.8232G>T	c.(8230-8232)aaG>aaT	p.K2744N	RNF213_ENST00000336301.6_Missense_Mutation_p.K817N|RNF213_ENST00000508628.2_Missense_Mutation_p.K2793N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2744					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K2793N(1)|p.K817N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCATCGCCAAGAACTTGGCCT	0.537																																					p.K2793N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8379T	17						.						62.0	56.0	58.0					17																	78320367		2203	4300	6503	75934962	SO:0001583	missense	57674	exon30			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8232G>T	17.37:g.78320367G>T	ENSP00000464087:p.Lys2744Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75934962	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196640	0.22037	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.26810	1.71	5.37	3.29	0.37713	.	0.389310	0.24611	N	0.037054	T	0.31796	0.0808	L	0.60455	1.87	0.26478	N	0.975157	P	0.40332	0.713	P	0.47075	0.536	T	0.11665	-1.0578	10	0.62326	D	0.03	.	8.4502	0.32866	0.1372:0.1281:0.7346:0.0	.	817	Q63HN8	RN213_HUMAN	N	2744;2793;817	ENSP00000338218:K817N	ENSP00000338218:K817N	K	+	3	2	RNF213	75934962	0.985000	0.35326	0.857000	0.33713	0.880000	0.50808	1.363000	0.34159	1.193000	0.43086	0.563000	0.77884	AAG		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
CCDC137	339230	broad.mit.edu	37	17	79638788	79638788	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:79638788G>A	ENST00000329214.8	+	4	915	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	171							poly(A) RNA binding (GO:0044822)	p.R171Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAGAAGCGGCGACTAGATAAA	0.557																																					p.R171Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512A	17						.						55.0	59.0	58.0					17																	79638788		1955	4149	6104	77249193	SO:0001583	missense	339230	exon4			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.512G>A	17.37:g.79638788G>A	ENSP00000329360:p.Arg171Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77249193	NM_199287		Missense_Mutation	SNP	ENST00000329214.8	37	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466894	0.43839	.	.	ENSG00000185298	ENST00000329214	D	0.89939	-2.59	5.12	4.15	0.48705	.	0.276419	0.29266	N	0.012659	D	0.84897	0.5574	M	0.64567	1.98	0.09310	N	1	P	0.40144	0.704	B	0.35278	0.199	T	0.78303	-0.2256	10	0.56958	D	0.05	-25.0635	9.1177	0.36769	0.1885:0.0:0.8115:0.0	.	171	Q6PK04	CC137_HUMAN	Q	171	ENSP00000329360:R171Q	ENSP00000329360:R171Q	R	+	2	0	CCDC137	77249193	0.172000	0.23043	0.210000	0.23637	0.214000	0.24535	2.197000	0.42696	1.140000	0.42260	0.655000	0.94253	CGA		0.557	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1		
TBCD	6904	broad.mit.edu	37	17	80851494	80851494	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:80851494T>C	ENST00000355528.4	+	17	1765	c.1635T>C	c.(1633-1635)tgT>tgC	p.C545C	TBCD_ENST00000397466.2_Silent_p.C159C|TBCD_ENST00000539345.2_Silent_p.C545C	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	545					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.C545C(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GATCCAACTGTTTCCTGGTTA	0.358																																					p.C545C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1635C	17						.						91.0	79.0	82.0					17																	80851494		1837	4088	5925	78444783	SO:0001819	synonymous_variant	6904	exon17			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1635T>C	17.37:g.80851494T>C		Somatic		Capture	Illumina HiSeq	Phase_I	78444783	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	CCDS45818.1																																																																																				0.358	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
GUCY2D	3000	broad.mit.edu	37	17	7909801	7909801	+	Silent	SNP	C	C	A	rs545271894		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7909801C>A	ENST00000254854.4	+	4	1297	c.1147C>A	c.(1147-1149)Cgg>Agg	p.R383R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	383					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.R383R(1)		skin(1)	1		Prostate(122;0.157)				CCGCCACATCCGGGATGCGCA	0.672																																					p.R383R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1147A	17						.						28.0	33.0	31.0					17																	7909801		2202	4300	6502	7850526	SO:0001819	synonymous_variant	3000	exon4			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1147C>A	17.37:g.7909801C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7850526	NM_000180	Q6LEA7	Silent	SNP	ENST00000254854.4	37	CCDS11127.1																																																																																				0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		
ALOX15B	247	broad.mit.edu	37	17	7948181	7948181	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:7948181C>A	ENST00000380183.4	+	6	850	c.711C>A	c.(709-711)ttC>ttA	p.F237L	ALOX15B_ENST00000380173.2_Missense_Mutation_p.F237L|ALOX15B_ENST00000572022.1_Missense_Mutation_p.F237L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.F237L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	237	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.F237L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGGACGCCTTCTTCGCCTCCC	0.612																																					p.F237L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C711A	17						.						103.0	71.0	82.0					17																	7948181		2203	4300	6503	7888906	SO:0001583	missense	247	exon6			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.711C>A	17.37:g.7948181C>A	ENSP00000369530:p.Phe237Leu	Somatic		Capture	Illumina HiSeq	Phase_I	7888906	NM_001039130	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126320	0.56721	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89123	-2.47;-2.47	4.26	2.21	0.28008	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	L	0.45744	1.44	0.49389	D	0.999787	P;P;P;P	0.48230	0.739;0.907;0.907;0.739	P;P;P;P	0.59948	0.866;0.686;0.789;0.866	D	0.86586	0.1857	10	0.33940	T	0.23	-30.4089	10.0841	0.42408	0.0:0.8159:0.0:0.1841	.	237;237;237;237	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	L	237	ENSP00000369520:F237L;ENSP00000369530:F237L	ENSP00000344337:F237L	F	+	3	2	ALOX15B	7888906	0.813000	0.29090	0.993000	0.49108	0.900000	0.52787	-0.129000	0.10515	0.922000	0.37019	0.491000	0.48974	TTC		0.612	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		
CTC1	80169	broad.mit.edu	37	17	8141725	8141725	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:8141725G>A	ENST00000315684.8	-	3	427	c.420C>T	c.(418-420)ggC>ggT	p.G140G	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	140					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.G140G(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCTCAGGACGCCAGTGTTAT	0.493																																					p.G140G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420T	17						.						147.0	146.0	146.0					17																	8141725		2033	4199	6232	8082450	SO:0001819	synonymous_variant	80169	exon3			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.420C>T	17.37:g.8141725G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8082450	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																				0.493	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	
WDR16	146845	broad.mit.edu	37	17	9515782	9515782	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:9515782T>C	ENST00000352665.5	+	8	1080	c.1011T>C	c.(1009-1011)gaT>gaC	p.D337D	WDR16_ENST00000396219.3_Silent_p.D269D|WDR16_ENST00000299764.5_Silent_p.D347D	NM_145054.4	NP_659491.4			WD repeat domain 16									p.D337D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCGAGGATATTGTCTTTC	0.383																																					p.D337D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1011C	17						.						119.0	101.0	107.0					17																	9515782		2203	4300	6503	9456507	SO:0001819	synonymous_variant	146845	exon8			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1011T>C	17.37:g.9515782T>C		Somatic		Capture	Illumina HiSeq	Phase_I	9456507	NM_145054		Silent	SNP	ENST00000352665.5	37	CCDS11149.2																																																																																				0.383	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054	
CCDC144CP	348254	broad.mit.edu	37	17	18513521	18513521	+	IGR	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:18513521A>G								CCDC144B (3817 upstream) : TBC1D28 (24797 downstream)																							TGATGGTGATACAGATGGACT	0.393																																					.												.	.	0			.	17						.						200.0	192.0	195.0					17																	18513521		1865	4104	5969	18454246	SO:0001628	intergenic_variant	284047	.																															17.37:g.18513521A>G		Somatic		Capture	Illumina HiSeq	Phase_I	18454246	.		Missense_Mutation	SNP		37																																																																																				0	0.393								
KRT40	125115	broad.mit.edu	37	17	39140371	39140371	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:39140371G>T	ENST00000398486.2	-	3	315	c.155C>A	c.(154-156)tCt>tAt	p.S52Y	KRT40_ENST00000377755.4_Missense_Mutation_p.S52Y	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	52	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S52Y(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAGCCCGCGAGACCTGGATAG	0.572																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	17						.						72.0	77.0	75.0					17																	39140371		2119	4218	6337	36393897	SO:0001583	missense	125115	.			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.155C>A	17.37:g.39140371G>T	ENSP00000381500:p.Ser52Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36393897	.	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633428	0.47049	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.83250	-1.7;-1.7	5.13	5.13	0.70059	.	0.546439	0.13920	N	0.353614	D	0.82559	0.5063	M	0.66939	2.045	0.09310	N	1	B	0.33904	0.431	P	0.45474	0.482	T	0.71397	-0.4605	10	0.02654	T	1	.	9.2789	0.37716	0.0:0.1554:0.684:0.1606	.	52	Q6A162	K1C40_HUMAN	Y	52	ENSP00000366984:S52Y;ENSP00000381500:S52Y	ENSP00000366984:S52Y	S	-	2	0	KRT40	36393897	0.344000	0.24827	0.069000	0.20011	0.508000	0.34012	1.508000	0.35769	2.558000	0.86282	0.591000	0.81541	TCT		0.572	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	
TBCD	6904	broad.mit.edu	37	17	80879440	80879440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr17:80879440G>A	ENST00000355528.4	+	25	2295	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	RP11-497H17.1_ENST00000571113.1_lincRNA|TBCD_ENST00000539345.2_Missense_Mutation_p.R722H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	722					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.R722H(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTCACTCCCGCCAGCAGATG	0.507																																					p.R722H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2165A	17						.						89.0	95.0	93.0					17																	80879440		2164	4265	6429	78472729	SO:0001583	missense	6904	exon25			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2165G>A	17.37:g.80879440G>A	ENSP00000347719:p.Arg722His	Somatic		Capture	Illumina HiSeq	Phase_I	78472729	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200651	0.38905	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.67698	-0.28	4.61	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.269079	0.35936	N	0.002897	T	0.76990	0.4065	M	0.77820	2.39	0.28327	N	0.921979	D;D;D;P	0.67145	0.995;0.991;0.996;0.933	P;P;P;P	0.61874	0.895;0.639;0.817;0.62	T	0.70710	-0.4797	9	.	.	.	.	9.0052	0.36106	0.1051:0.0:0.8949:0.0	.	722;722;722;722	B4DE53;Q9BTW9;Q9BTW9-4;F5H8C7	.;TBCD_HUMAN;.;.	H	722;473	ENSP00000347719:R722H	.	R	+	2	0	TBCD	78472729	0.996000	0.38824	0.030000	0.17652	0.118000	0.20060	3.422000	0.52749	1.067000	0.40740	0.585000	0.79938	CGC		0.507	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
APCDD1	147495	broad.mit.edu	37	18	10468527	10468527	+	Missense_Mutation	SNP	G	G	T	rs149564774		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:10468527G>T	ENST00000355285.5	+	2	474	c.120G>T	c.(118-120)gaG>gaT	p.E40D	APCDD1_ENST00000578882.1_Missense_Mutation_p.E40D	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.E40D(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGTCCTTAGAGAAAAGTGCCT	0.488																																					p.E40D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G120T	18						.	G	ASP/GLU	2,4404	4.2+/-10.8	0,2,2201	116.0	118.0	117.0		120	3.4	1.0	18	dbSNP_134	117	0,8600		0,0,4300	no	missense	APCDD1	NM_153000.4	45	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign	40/515	10468527	2,13004	2203	4300	6503	10458527	SO:0001583	missense	147495	exon2			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.120G>T	18.37:g.10468527G>T	ENSP00000347433:p.Glu40Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10458527	NM_153000		Missense_Mutation	SNP	ENST00000355285.5	37	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864675	0.32977	4.54E-4	0.0	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.37915	1.17	5.2	3.41	0.39046	.	0.049627	0.85682	D	0.000000	T	0.34048	0.0884	L	0.56769	1.78	0.46542	D	0.999097	B	0.18461	0.028	B	0.14578	0.011	T	0.11275	-1.0594	10	0.41790	T	0.15	-31.6122	11.8557	0.52435	0.1437:0.0:0.8563:0.0	.	40	Q8J025	APCD1_HUMAN	D	40;91	ENSP00000347433:E40D	ENSP00000347433:E40D	E	+	3	2	APCDD1	10458527	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.930000	0.70104	0.695000	0.31675	0.591000	0.81541	GAG		0.488	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000	
CEP192	55125	broad.mit.edu	37	18	13114135	13114135	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:13114135G>A	ENST00000325971.8	+	40	6979	c.5386G>A	c.(5386-5388)Gaa>Aaa	p.E1796K	CEP192_ENST00000430049.2_Missense_Mutation_p.E1917K|CEP192_ENST00000506447.1_Missense_Mutation_p.E2392K|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1796					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.E1796K(1)|p.E2392K(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAGAGCATCGAAGCAGAAAA	0.358																																					p.E2392K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7174A	18						.						113.0	113.0	113.0					18																	13114135		2203	4300	6503	13104135	SO:0001583	missense	55125	exon42			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5386G>A	18.37:g.13114135G>A	ENSP00000317156:p.Glu1796Lys	Somatic		Capture	Illumina HiSeq	Phase_I	13104135	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	1.679	-0.507048	0.04231	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.05025	3.51;3.51;3.51	5.19	1.35	0.21983	.	0.582254	0.16770	N	0.200230	T	0.01254	0.0041	N	0.00368	-1.59	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.0;0.0	T	0.46162	-0.9211	10	0.02654	T	1	-1.4155	6.5694	0.22531	0.6245:0.2947:0.0809:0.0	.	1917;2392;396;994	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	K	2392;1796;1796;1917;396	ENSP00000427550:E2392K;ENSP00000317156:E1796K;ENSP00000389190:E1917K	ENSP00000317156:E1796K	E	+	1	0	CEP192	13104135	0.042000	0.20092	0.003000	0.11579	0.019000	0.09904	0.628000	0.24522	-0.003000	0.14444	-0.391000	0.06502	GAA		0.358	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
MC5R	4161	broad.mit.edu	37	18	13826203	13826203	+	Missense_Mutation	SNP	G	G	A	rs147915585		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:13826203G>A	ENST00000324750.3	+	1	661	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	147					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.A147T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CATCTTCTACGCCCTGCGCTA	0.557																																					p.A147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	18						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	151.0	133.0	139.0		439	5.0	0.9	18	dbSNP_134	139	0,8600		0,0,4300	no	missense	MC5R	NM_005913.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	147/326	13826203	1,13005	2203	4300	6503	13816203	SO:0001583	missense	4161	exon1			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.439G>A	18.37:g.13826203G>A	ENSP00000318077:p.Ala147Thr	Somatic		Capture	Illumina HiSeq	Phase_I	13816203	NM_005913	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444943	0.83993	2.27E-4	0.0	ENSG00000176136	ENST00000324750	T	0.00555	6.63	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.02610	0.0079	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.47446	-0.9117	10	0.87932	D	0	.	17.287	0.87145	0.0:0.0:1.0:0.0	.	147	P33032	MC5R_HUMAN	T	147	ENSP00000318077:A147T	ENSP00000318077:A147T	A	+	1	0	MC5R	13816203	1.000000	0.71417	0.947000	0.38551	0.486000	0.33341	9.353000	0.97080	2.311000	0.77944	0.455000	0.32223	GCC		0.557	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
ROCK1	6093	broad.mit.edu	37	18	18534809	18534809	+	Missense_Mutation	SNP	C	C	A	rs367756889		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:18534809C>A	ENST00000399799.2	-	31	4728	c.3788G>T	c.(3787-3789)aGa>aTa	p.R1263I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1263	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1263I(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AACATGGCATCTTCGACACTC	0.418																																					p.R1263I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3788T	18						.						101.0	90.0	94.0					18																	18534809		2203	4300	6503	16788807	SO:0001583	missense	6093	exon31				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3788G>T	18.37:g.18534809C>A	ENSP00000382697:p.Arg1263Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16788807	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225603	0.58668	.	.	ENSG00000067900	ENST00000399799	T	0.28454	1.61	5.63	5.63	0.86233	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.69463	2.115	0.80722	D	1	D	0.59767	0.986	P	0.58391	0.838	T	0.53968	-0.8363	10	0.87932	D	0	.	19.6682	0.95900	0.0:1.0:0.0:0.0	.	1263	Q13464	ROCK1_HUMAN	I	1263	ENSP00000382697:R1263I	ENSP00000382697:R1263I	R	-	2	0	ROCK1	16788807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.908000	0.63307	2.636000	0.89361	0.543000	0.68304	AGA		0.418	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ESCO1	114799	broad.mit.edu	37	18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T	rs200657231		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:19144267C>T	ENST00000269214.5	-	7	2655	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	573					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R573Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGAATGATTTCGTGGTGTCTC	0.294																																					p.R573Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1718A	18						.						77.0	73.0	74.0					18																	19144267		2203	4298	6501	17398265	SO:0001583	missense	114799	exon7			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1718G>A	18.37:g.19144267C>T	ENSP00000269214:p.Arg573Gln	Somatic		Capture	Illumina HiSeq	Phase_I	17398265	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395129	0.25205	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57107	0.42;2.01	4.92	3.06	0.35304	.	0.502328	0.18216	N	0.148031	T	0.28167	0.0695	N	0.08118	0	0.25621	N	0.986406	B	0.12630	0.006	B	0.04013	0.001	T	0.16571	-1.0398	10	0.12766	T	0.61	-3.549	10.2965	0.43627	0.0:0.154:0.6989:0.147	.	573	Q5FWF5	ESCO1_HUMAN	Q	573	ENSP00000269214:R573Q;ENSP00000372763:R573Q	ENSP00000269214:R573Q	R	-	2	0	ESCO1	17398265	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	1.392000	0.34486	0.552000	0.29026	-0.165000	0.13383	CGA		0.294	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ESCO1	114799	broad.mit.edu	37	18	19153694	19153694	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:19153694T>C	ENST00000269214.5	-	4	2048	c.1111A>G	c.(1111-1113)Aca>Gca	p.T371A		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	371					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.T371A(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ACAGGCTTTGTTTTTCTACTT	0.343																																					p.T371A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1111G	18						.						139.0	142.0	141.0					18																	19153694		2203	4300	6503	17407692	SO:0001583	missense	114799	exon4			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1111A>G	18.37:g.19153694T>C	ENSP00000269214:p.Thr371Ala	Somatic		Capture	Illumina HiSeq	Phase_I	17407692	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	0.246	-1.009856	0.02095	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.54479	0.57;2.09	5.74	3.39	0.38822	.	0.184970	0.37857	N	0.001920	T	0.31071	0.0785	L	0.39898	1.24	0.32592	N	0.527059	B	0.21753	0.06	B	0.17098	0.017	T	0.27226	-1.0080	10	0.05525	T	0.97	-23.4687	1.7156	0.02901	0.289:0.1804:0.0:0.5306	.	371	Q5FWF5	ESCO1_HUMAN	A	371	ENSP00000269214:T371A;ENSP00000372763:T371A	ENSP00000269214:T371A	T	-	1	0	ESCO1	17407692	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.647000	0.46639	1.008000	0.39264	-0.259000	0.10710	ACA		0.343	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ABHD3	171586	broad.mit.edu	37	18	19282290	19282290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:19282290C>A	ENST00000289119.2	-	3	635	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	ABHD3_ENST00000580981.1_Nonsense_Mutation_p.E166*|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	166						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.E166*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TATCCTAATTCTTCACTAAGA	0.358																																					p.E166X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G496T	18						.						74.0	76.0	75.0					18																	19282290		2203	4300	6503	17536288	SO:0001587	stop_gained	171586	exon3			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.496G>T	18.37:g.19282290C>A	ENSP00000289119:p.Glu166*	Somatic		Capture	Illumina HiSeq	Phase_I	17536288	NM_138340	B0YIV0|B7Z5C2|O43411	Nonsense_Mutation	SNP	ENST00000289119.2	37	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714302	0.96830	.	.	ENSG00000158201	ENST00000289119	.	.	.	5.57	5.57	0.84162	.	0.224065	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.428	10.6337	0.45551	0.0:0.8832:0.0:0.1168	.	.	.	.	X	166	.	ENSP00000289119:E166X	E	-	1	0	ABHD3	17536288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.555000	0.53727	2.619000	0.88677	0.655000	0.94253	GAA		0.358	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1		
MIB1	57534	broad.mit.edu	37	18	19444495	19444495	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:19444495C>T	ENST00000261537.6	+	21	3153	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	963					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C963C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGACAATGTGCCCTGTGTGTC	0.363																																					p.C963C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2889T	18						.						194.0	176.0	182.0					18																	19444495		2203	4300	6503	17698493	SO:0001819	synonymous_variant	57534	exon21			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2889C>T	18.37:g.19444495C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17698493	NM_020774	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	CCDS11871.1																																																																																				0.363	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
CTAGE1	64693	broad.mit.edu	37	18	19997617	19997617	+	5'Flank	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:19997617G>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.S53Y			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.S53Y(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATTAGTCCAGAAAGTGCCAC	0.363																																					p.S53Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158A	18						.						67.0	70.0	69.0					18																	19997617		2194	4298	6492	18251615	SO:0001631	upstream_gene_variant	64693	exon1			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997617G>T	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	18251615	NM_172241	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	G	9.967	1.224536	0.22457	.	.	ENSG00000212710	ENST00000391403	T	0.40756	1.02	0.822	0.822	0.18806	.	.	.	.	.	T	0.55289	0.1911	M	0.83483	2.645	0.09310	N	1	D	0.56287	0.975	P	0.57101	0.813	T	0.43540	-0.9385	8	.	.	.	.	4.9361	0.13941	0.0:0.0:1.0:0.0	.	53	Q96RT6	CTGE2_HUMAN	Y	53	ENSP00000375220:S53Y	.	S	-	2	0	CTAGE1	18251615	0.537000	0.26386	0.007000	0.13788	0.034000	0.12701	1.921000	0.40035	0.701000	0.31803	0.305000	0.20034	TCT		0.363	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
RBBP8	5932	broad.mit.edu	37	18	20562309	20562309	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:20562309A>G	ENST00000399722.2	+	7	908	c.557A>G	c.(556-558)tAc>tGc	p.Y186C	RBBP8_ENST00000360790.5_Missense_Mutation_p.Y186C|RBBP8_ENST00000327155.5_Missense_Mutation_p.Y186C|RBBP8_ENST00000399725.2_Missense_Mutation_p.Y186C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	186					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.Y186C(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CATGTCCGATACATAGAACAA	0.418								Homologous recombination																													p.Y186C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A557G	18						.						181.0	166.0	171.0					18																	20562309		2203	4300	6503	18816307	SO:0001583	missense	5932	exon7			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.557A>G	18.37:g.20562309A>G	ENSP00000382628:p.Tyr186Cys	Somatic		Capture	Illumina HiSeq	Phase_I	18816307	NM_203291	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578009	0.45902	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.38560	1.19;1.13;1.19;1.18;1.19	5.78	5.78	0.91487	.	0.073503	0.56097	D	0.000028	T	0.64394	0.2594	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.999;0.879;0.999	T	0.68368	-0.5427	10	0.87932	D	0	-10.2106	13.4742	0.61299	1.0:0.0:0.0:0.0	.	186;186;186	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	186	ENSP00000323050:Y186C;ENSP00000382630:Y186C;ENSP00000382628:Y186C;ENSP00000382627:Y186C;ENSP00000354024:Y186C	ENSP00000323050:Y186C	Y	+	2	0	RBBP8	18816307	0.998000	0.40836	0.865000	0.33974	0.057000	0.15508	5.061000	0.64319	2.208000	0.71279	0.454000	0.30748	TAC		0.418	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
LAMA3	3909	broad.mit.edu	37	18	21529813	21529813	+	Missense_Mutation	SNP	G	G	A	rs78615698	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:21529813G>A	ENST00000313654.9	+	71	9677	c.9436G>A	c.(9436-9438)Ggg>Agg	p.G3146R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1537R|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3090R|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1481R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3146	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G3146R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTCAAGCTTCGGGGTGTCTTC	0.468													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		19895	0.0		0.0	False		,,,				2504	0.0				p.G1481R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4441A	18						.	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	19,4387	25.3+/-52.1	0,19,2184	110.0	109.0	109.0		4609,9268,4441,9436	5.7	0.4	18	dbSNP_131	109	0,8600		0,0,4300	yes	missense,missense,missense,missense	LAMA3	NM_000227.3,NM_001127717.1,NM_001127718.1,NM_198129.1	125,125,125,125	0,19,6484	AA,AG,GG		0.0,0.4312,0.1461	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1537/1725,3090/3278,1481/1669,3146/3334	21529813	19,12987	2203	4300	6503	19783811	SO:0001583	missense	3909	exon33			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9436G>A	18.37:g.21529813G>A	ENSP00000324532:p.Gly3146Arg	Somatic		Capture	Illumina HiSeq	Phase_I	19783811	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	17.50	3.405179	0.62288	0.004312	0.0	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.65916	-0.18;-0.18;-0.18	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.76499	0.3996	M	0.81497	2.545	0.50467	D	0.999879	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.986;0.976	T	0.80668	-0.1280	9	0.62326	D	0.03	.	19.819	0.96583	0.0:0.0:1.0:0.0	.	1481;1537;3090;3146	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	3146;3090;1537	ENSP00000324532:G3146R;ENSP00000382432:G3090R;ENSP00000269217:G1537R	ENSP00000269217:G1537R	G	+	1	0	LAMA3	19783811	1.000000	0.71417	0.429000	0.26710	0.099000	0.18886	6.179000	0.71974	2.691000	0.91804	0.655000	0.94253	GGG		0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
CABYR	26256	broad.mit.edu	37	18	21735718	21735718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:21735718G>T	ENST00000399496.3	+	4	418	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	CABYR_ENST00000399499.1_Nonsense_Mutation_p.E85*|CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000415309.2_Nonsense_Mutation_p.E85*|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000581397.1_Nonsense_Mutation_p.E85*	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	85					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)	p.E85*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ATGTTTAAAAGAACCAGGAAA	0.348																																					p.E85X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G253T	18						.						75.0	73.0	74.0					18																	21735718		2203	4300	6503	19989716	SO:0001587	stop_gained	26256	exon4			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.253G>T	18.37:g.21735718G>T	ENSP00000382419:p.Glu85*	Somatic		Capture	Illumina HiSeq	Phase_I	19989716	NM_138644	B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Nonsense_Mutation	SNP	ENST00000399496.3	37	CCDS42420.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387433	0.25031	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399499	.	.	.	5.93	5.05	0.67936	.	0.103731	0.42548	D	0.000685	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.2916	14.2677	0.66129	0.0:0.1491:0.8509:0.0	.	.	.	.	X	85	.	ENSP00000382419:E85X	E	+	1	0	CABYR	19989716	0.941000	0.31946	0.283000	0.24790	0.047000	0.14425	2.995000	0.49441	1.472000	0.48140	0.655000	0.94253	GAA		0.348	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770	
IMPACT	55364	broad.mit.edu	37	18	22028078	22028078	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:22028078G>T	ENST00000284202.4	+	9	831	c.690G>T	c.(688-690)caG>caT	p.Q230H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	230					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.Q230H(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AGGATAAACAGACCTTCTTAC	0.353																																					p.Q230H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	18						.						122.0	115.0	117.0					18																	22028078		2203	4300	6503	20282076	SO:0001583	missense	55364	exon9			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.690G>T	18.37:g.22028078G>T	ENSP00000284202:p.Gln230His	Somatic		Capture	Illumina HiSeq	Phase_I	20282076	NM_018439	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903672	0.33628	.	.	ENSG00000154059	ENST00000284202	T	0.31769	1.48	4.38	4.38	0.52667	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.271361	0.36444	N	0.002595	T	0.32133	0.0819	M	0.67625	2.065	0.32150	N	0.58437	B	0.14012	0.009	B	0.16722	0.016	T	0.37220	-0.9715	10	0.45353	T	0.12	.	11.4361	0.50068	0.0:0.0:0.8192:0.1808	.	230	Q9P2X3	IMPCT_HUMAN	H	230	ENSP00000284202:Q230H	ENSP00000284202:Q230H	Q	+	3	2	IMPACT	20282076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.108000	0.41854	2.421000	0.82119	0.655000	0.94253	CAG		0.353	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	
HRH4	59340	broad.mit.edu	37	18	22057504	22057504	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:22057504A>G	ENST00000256906.4	+	3	1251	c.1151A>G	c.(1150-1152)cAc>cGc	p.H384R	HRH4_ENST00000426880.2_Missense_Mutation_p.H296R	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	384					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.H384R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CCATCACAACACAGTCGGTCA	0.363																																					p.H296R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A887G	18						.						52.0	52.0	52.0					18																	22057504		2203	4298	6501	20311502	SO:0001583	missense	59340	exon2			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.1151A>G	18.37:g.22057504A>G	ENSP00000256906:p.His384Arg	Somatic		Capture	Illumina HiSeq	Phase_I	20311502	NM_001143828	B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523641	0.27299	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.35789	1.29;1.29	5.5	3.17	0.36434	.	3.362500	0.00678	N	0.000662	T	0.37919	0.1021	M	0.68593	2.085	0.09310	N	1	B;B	0.17852	0.006;0.024	B;B	0.12837	0.005;0.008	T	0.43015	-0.9417	10	0.06757	T	0.87	-2.5784	9.4275	0.38590	0.8733:0.0:0.1267:0.0	.	296;384	B2KJ48;Q9H3N8	.;HRH4_HUMAN	R	384;296	ENSP00000256906:H384R;ENSP00000402526:H296R	ENSP00000256906:H384R	H	+	2	0	HRH4	20311502	0.343000	0.24818	0.041000	0.18516	0.003000	0.03518	1.037000	0.30241	0.539000	0.28788	0.533000	0.62120	CAC		0.363	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1		
ZNF521	25925	broad.mit.edu	37	18	22805954	22805954	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:22805954T>C	ENST00000361524.3	-	4	2076	c.1928A>G	c.(1927-1929)tAc>tGc	p.Y643C	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y423C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y643C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	643					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.Y643C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TAGGGATGTGTACTTAGCACC	0.468			T	PAX5	ALL																																p.Y643C			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1928G	18						.						166.0	152.0	157.0					18																	22805954		2203	4300	6503	21059952	SO:0001583	missense	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1928A>G	18.37:g.22805954T>C	ENSP00000354794:p.Tyr643Cys	Somatic		Capture	Illumina HiSeq	Phase_I	21059952	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	8.464	0.855972	0.17106	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.77877	-1.13;-1.13	5.86	5.86	0.93980	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.84938	0.5583	L	0.52364	1.645	0.47949	D	0.99955	D	0.89917	1.0	D	0.77004	0.989	D	0.86213	0.1626	10	0.87932	D	0	-42.3388	15.1308	0.72520	0.0:0.0:0.0:1.0	.	643	Q96K83	ZN521_HUMAN	C	643;677;643	ENSP00000354794:Y643C;ENSP00000382352:Y643C	ENSP00000354794:Y643C	Y	-	2	0	ZNF521	21059952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.809000	0.69172	2.367000	0.80283	0.528000	0.53228	TAC		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
TAF4B	6875	broad.mit.edu	37	18	23895351	23895351	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:23895351T>G	ENST00000269142.5	+	10	2989	c.1991T>G	c.(1990-1992)aTt>aGt	p.I664S	TAF4B_ENST00000578121.1_Missense_Mutation_p.I669S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	664	Histone-fold.				gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I664S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAAAAGAGAATTTTAGACATT	0.363																																					p.I664S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1991G	18						.						56.0	51.0	52.0					18																	23895351		1829	4080	5909	22149349	SO:0001583	missense	6875	exon10			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1991T>G	18.37:g.23895351T>G	ENSP00000269142:p.Ile664Ser	Somatic		Capture	Illumina HiSeq	Phase_I	22149349	NM_005640	Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.496126	0.44352	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.37584	1.19	5.91	5.91	0.95273	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.977	T	0.66728	-0.5850	10	0.87932	D	0	-11.5652	16.3453	0.83126	0.0:0.0:0.0:1.0	.	664;669	Q92750;A4PBF7	TAF4B_HUMAN;.	S	667;664	ENSP00000269142:I664S	ENSP00000269142:I664S	I	+	2	0	TAF4B	22149349	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.305000	0.72805	2.261000	0.74972	0.533000	0.62120	ATT		0.363	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	
CHST9	83539	broad.mit.edu	37	18	24496578	24496578	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:24496578G>T	ENST00000284224.8	-	6	1254	c.977C>A	c.(976-978)tCt>tAt	p.S326Y	CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.S326Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	326					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.S326Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTTGACTCCAGATCCATTAAT	0.408																																					p.S326Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C977A	18						.						146.0	141.0	143.0					18																	24496578		1902	4107	6009	22750576	SO:0001583	missense	83539	exon6			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.977C>A	18.37:g.24496578G>T	ENSP00000284224:p.Ser326Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	22750576	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804638	0.31961	.	.	ENSG00000154080	ENST00000284224	T	0.76839	-1.05	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.86768	0.6012	L	0.54323	1.7	0.44995	D	0.998015	D	0.71674	0.998	D	0.75484	0.986	D	0.85149	0.0985	10	0.52906	T	0.07	-24.8843	20.8794	0.99867	0.0:0.0:1.0:0.0	.	326	Q7L1S5	CHST9_HUMAN	Y	326	ENSP00000284224:S326Y	ENSP00000284224:S326Y	S	-	2	0	CHST9	22750576	0.997000	0.39634	1.000000	0.80357	0.916000	0.54674	2.559000	0.45888	2.941000	0.99782	0.655000	0.94253	TCT		0.408	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
CDH2	1000	broad.mit.edu	37	18	25562953	25562953	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:25562953A>C	ENST00000269141.3	-	14	2727	c.2304T>G	c.(2302-2304)gaT>gaG	p.D768E	CDH2_ENST00000399380.3_Missense_Mutation_p.D737E	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	768					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.D768E(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						TTAAAATATTATCTCTTACAT	0.343																																					p.D768E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2304G	18						.						102.0	106.0	104.0					18																	25562953		2203	4300	6503	23816951	SO:0001583	missense	1000	exon14			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.2304T>G	18.37:g.25562953A>C	ENSP00000269141:p.Asp768Glu	Somatic		Capture	Illumina HiSeq	Phase_I	23816951	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295166	0.81025	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.73047	-0.71;-0.71	5.82	0.941	0.19519	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	N	0.10945	0.07	0.47949	D	0.999558	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.64765	-0.6330	10	0.52906	T	0.07	.	8.5506	0.33449	0.628:0.0:0.372:0.0	.	737;768	A8MWK3;P19022	.;CADH2_HUMAN	E	768;737	ENSP00000269141:D768E;ENSP00000382312:D737E	ENSP00000269141:D768E	D	-	3	2	CDH2	23816951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.214000	0.42853	0.463000	0.27118	-0.274000	0.10170	GAT		0.343	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CDH2	1000	broad.mit.edu	37	18	25568590	25568590	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:25568590C>A	ENST00000269141.3	-	11	2062	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	CDH2_ENST00000399380.3_Missense_Mutation_p.D516Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	547	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.D547Y(2)		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						TTCACAGGATCTATTTTTAGC	0.289																																					p.D547Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1639T	18						.						107.0	111.0	110.0					18																	25568590		2203	4300	6503	23822588	SO:0001583	missense	1000	exon11			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.1639G>T	18.37:g.25568590C>A	ENSP00000269141:p.Asp547Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	23822588	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543478	0.86022	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.66815	-0.23;-0.23	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.70935	0.935;0.971	D	0.92258	0.5814	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	516;547	A8MWK3;P19022	.;CADH2_HUMAN	Y	547;516	ENSP00000269141:D547Y;ENSP00000382312:D516Y	ENSP00000269141:D547Y	D	-	1	0	CDH2	23822588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.439000	0.80444	2.752000	0.94435	0.655000	0.94253	GAT		0.289	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CDH2	1000	broad.mit.edu	37	18	25570102	25570102	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:25570102G>T	ENST00000269141.3	-	10	1980	c.1557C>A	c.(1555-1557)ttC>ttA	p.F519L	CDH2_ENST00000399380.3_Missense_Mutation_p.F488L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	519	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.F519L(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						CCTGAGCAGTGAATGTTGTCA	0.388																																					p.F519L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1557A	18						.						170.0	149.0	156.0					18																	25570102		2203	4300	6503	23824100	SO:0001583	missense	1000	exon10			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.1557C>A	18.37:g.25570102G>T	ENSP00000269141:p.Phe519Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23824100	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884287	0.72410	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.44881	0.91;0.91	6.16	-0.446	0.12238	Cadherin (4);Cadherin-like (1);	0.045896	0.85682	N	0.000000	T	0.32734	0.0839	N	0.16708	0.43	0.47547	D	0.999456	P;P	0.45768	0.584;0.866	P;P	0.48270	0.46;0.572	T	0.03051	-1.1078	10	0.34782	T	0.22	.	14.85	0.70289	0.2625:0.0:0.7375:0.0	.	488;519	A8MWK3;P19022	.;CADH2_HUMAN	L	519;488	ENSP00000269141:F519L;ENSP00000382312:F488L	ENSP00000269141:F519L	F	-	3	2	CDH2	23824100	1.000000	0.71417	0.641000	0.29422	0.990000	0.78478	1.328000	0.33758	-0.400000	0.07656	-0.355000	0.07637	TTC		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
DSC1	1823	broad.mit.edu	37	18	28728524	28728524	+	Missense_Mutation	SNP	C	C	A	rs267605151		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:28728524C>A	ENST00000257198.5	-	6	970	c.709G>T	c.(709-711)Gat>Tat	p.D237Y	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.D237Y	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	237	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D237Y(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGGGCGTTATCATTATCATCT	0.383																																					p.D237Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G709T	18						.						157.0	150.0	153.0					18																	28728524		2203	4300	6503	26982522	SO:0001583	missense	1823	exon6			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.709G>T	18.37:g.28728524C>A	ENSP00000257198:p.Asp237Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	26982522	NM_004948	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159749	0.57368	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.72051	-0.62;-0.62	5.07	5.07	0.68467	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.48767	D	0.000164	D	0.88897	0.6562	H	0.98542	4.26	0.80722	D	1	D;D	0.71674	0.995;0.998	P;P	0.57244	0.816;0.816	D	0.93395	0.6755	10	0.87932	D	0	.	17.5838	0.87976	0.0:1.0:0.0:0.0	.	237;237	Q08554;Q9HB00	DSC1_HUMAN;.	Y	237	ENSP00000257197:D237Y;ENSP00000257198:D237Y	ENSP00000257197:D237Y	D	-	1	0	DSC1	26982522	1.000000	0.71417	0.987000	0.45799	0.088000	0.18126	5.106000	0.64597	2.509000	0.84616	0.655000	0.94253	GAT		0.383	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DSG2	1829	broad.mit.edu	37	18	29125939	29125939	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:29125939A>G	ENST00000261590.8	+	15	2799	c.2590A>G	c.(2590-2592)Aac>Gac	p.N864D	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	864					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N864D(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AACAAGTATGAACACAGCTTC	0.388																																					p.N864D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2590G	18						.						81.0	80.0	80.0					18																	29125939		1854	4096	5950	27379937	SO:0001583	missense	1829	exon15			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2590A>G	18.37:g.29125939A>G	ENSP00000261590:p.Asn864Asp	Somatic		Capture	Illumina HiSeq	Phase_I	27379937	NM_001943	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	9.207	1.029985	0.19512	.	.	ENSG00000046604	ENST00000261590	T	0.58797	0.31	5.85	1.97	0.26223	.	0.760527	0.11849	N	0.523524	T	0.39279	0.1072	N	0.22421	0.69	0.09310	N	0.999999	B	0.23442	0.085	B	0.19666	0.026	T	0.21075	-1.0256	10	0.23891	T	0.37	.	8.2064	0.31458	0.5446:0.3879:0.0675:0.0	.	864	Q14126	DSG2_HUMAN	D	864	ENSP00000261590:N864D	ENSP00000261590:N864D	N	+	1	0	DSG2	27379937	0.009000	0.17119	0.008000	0.14137	0.125000	0.20455	0.664000	0.25068	0.460000	0.27045	0.533000	0.62120	AAC		0.388	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	
TTR	7276	broad.mit.edu	37	18	29175162	29175162	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:29175162G>T	ENST00000237014.3	+	3	457	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	94			D -> H.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.D94Y(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTGGAAATAGACACCAAATC	0.453																																					p.D94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280T	18						.						127.0	105.0	112.0					18																	29175162		2203	4300	6503	27429160	SO:0001583	missense	7276	exon3			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.280G>T	18.37:g.29175162G>T	ENSP00000237014:p.Asp94Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	27429160	NM_000371	Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935104	0.52866	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.96365	-3.99	5.54	4.67	0.58626	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.047372	0.85682	D	0.000000	D	0.98068	0.9363	M	0.85777	2.775	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.98945	1.0792	10	0.87932	D	0	-37.8382	14.5695	0.68202	0.0712:0.0:0.9288:0.0	.	94	P02766	TTHY_HUMAN	Y	94	ENSP00000237014:D94Y	ENSP00000237014:D94Y	D	+	1	0	TTR	27429160	1.000000	0.71417	0.997000	0.53966	0.373000	0.29922	5.788000	0.69020	1.481000	0.48307	-0.137000	0.14449	GAC		0.453	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371	
B4GALT6	9331	broad.mit.edu	37	18	29207071	29207071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:29207071C>A	ENST00000306851.5	-	7	1086	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	B4GALT6_ENST00000383131.3_Nonsense_Mutation_p.E225*|B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.E225*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	264					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.E264*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CCAAAAAATTCTTTATATGGA	0.363																																					p.E264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	18						.						55.0	54.0	55.0					18																	29207071		2203	4300	6503	27461069	SO:0001587	stop_gained	9331	exon7			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.790G>T	18.37:g.29207071C>A	ENSP00000306459:p.Glu264*	Somatic		Capture	Illumina HiSeq	Phase_I	27461069	NM_004775	O60514|Q6NT09	Nonsense_Mutation	SNP	ENST00000306851.5	37	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046762	0.97231	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	.	.	.	5.74	5.74	0.90152	.	0.177189	0.40640	N	0.001051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.0826	19.5342	0.95242	0.0:1.0:0.0:0.0	.	.	.	.	X	264;225;225	.	ENSP00000237019:E225X	E	-	1	0	B4GALT6	27461069	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.712000	0.92718	0.650000	0.86243	GAA		0.363	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	
MYOM1	8736	broad.mit.edu	37	18	3079252	3079252	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:3079252C>A	ENST00000356443.4	-	34	4906	c.4573G>T	c.(4573-4575)Gac>Tac	p.D1525Y	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1429Y|MYOM1_ENST00000400569.3_Missense_Mutation_p.D1525Y	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1525					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.D1525Y(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCCTTTGTCATTCGGGGTG	0.473																																					p.D1429Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4285T	18						.						100.0	95.0	97.0					18																	3079252		1888	4107	5995	3069252	SO:0001583	missense	8736	exon33			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4573G>T	18.37:g.3079252C>A	ENSP00000348821:p.Asp1525Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3069252	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821466	0.90873	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.56103	0.48;0.48;0.48	5.94	5.94	0.96194	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76793	-0.2828	10	0.87932	D	0	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	1429;1525	P52179-2;P52179	.;MYOM1_HUMAN	Y	1525;1525;1429	ENSP00000348821:D1525Y;ENSP00000383413:D1525Y;ENSP00000261606:D1429Y	ENSP00000261606:D1429Y	D	-	1	0	MYOM1	3069252	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	7.461000	0.80834	2.816000	0.96949	0.563000	0.77884	GAC		0.473	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
MEP1B	4225	broad.mit.edu	37	18	29797906	29797906	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:29797906G>A	ENST00000269202.6	+	14	2116	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q	MEP1B_ENST00000581447.1_Missense_Mutation_p.R690Q	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	690					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R690Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCTCAAATCGACCAAATTTG	0.383																																					p.R690Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2069A	18						.						119.0	118.0	119.0					18																	29797906		1951	4144	6095	28051904	SO:0001583	missense	4225	exon14			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2069G>A	18.37:g.29797906G>A	ENSP00000269202:p.Arg690Gln	Somatic		Capture	Illumina HiSeq	Phase_I	28051904	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	g	8.245	0.807662	0.16467	.	.	ENSG00000141434	ENST00000269202	T	0.19250	2.16	5.68	0.797	0.18654	.	0.613557	0.16824	N	0.198031	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B	0.29481	0.245	B	0.15870	0.014	T	0.25813	-1.0121	10	0.24483	T	0.36	0.0187	1.4938	0.02462	0.2331:0.2297:0.3506:0.1867	.	690	Q16820	MEP1B_HUMAN	Q	690	ENSP00000269202:R690Q	ENSP00000269202:R690Q	R	+	2	0	MEP1B	28051904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.776000	0.01781	0.066000	0.16515	-1.794000	0.00625	CGA		0.383	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
ZNF24	7572	broad.mit.edu	37	18	32917323	32917323	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:32917323C>A	ENST00000261332.6	-	4	1159	c.980G>T	c.(979-981)aGa>aTa	p.R327I	ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	327					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R327I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTATGGATTCTCTGATGATT	0.413																																					p.R327I	Colon(42;769 913 8916 19469 46270)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980T	18						.						109.0	110.0	110.0					18																	32917323		2203	4300	6503	31171321	SO:0001583	missense	7572	exon4			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.980G>T	18.37:g.32917323C>A	ENSP00000261332:p.Arg327Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31171321	NM_006965	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532919	0.64972	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.24908	1.83;1.83	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000010	T	0.47395	0.1443	M	0.72479	2.2	0.58432	D	0.999997	D	0.76494	0.999	D	0.68353	0.957	T	0.45804	-0.9236	10	0.87932	D	0	.	11.7701	0.51953	0.0:0.823:0.177:0.0	.	327	P17028	ZNF24_HUMAN	I	327	ENSP00000261332:R327I;ENSP00000382015:R327I	ENSP00000261332:R327I	R	-	2	0	ZNF24	31171321	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.184000	0.50926	2.679000	0.91253	0.655000	0.94253	AGA		0.413	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965	
GALNT1	2589	broad.mit.edu	37	18	33269242	33269242	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:33269242A>C	ENST00000269195.5	+	6	1069	c.966A>C	c.(964-966)gaA>gaC	p.E322D	GALNT1_ENST00000537549.1_Missense_Mutation_p.E262D	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	322	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						AAAACCTAGAAATTTCCTTTA	0.318																																					p.E322D												.	.	0			c.A966C	18						.						64.0	65.0	65.0					18																	33269242		2203	4300	6503	31523240	SO:0001583	missense	2589	exon6				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.966A>C	18.37:g.33269242A>C	ENSP00000269195:p.Glu322Asp	None		Capture	Illumina HiSeq	Phase_I	31523240	NM_020474	Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984040	0.74474	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.57273	0.41;0.41	5.73	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77943	-0.2398	10	0.87932	D	0	.	7.9804	0.30181	0.8333:0.0:0.1667:0.0	.	322	Q10472	GALT1_HUMAN	D	322;322;262	ENSP00000269195:E322D;ENSP00000440910:E262D	ENSP00000269195:E322D	E	+	3	2	GALNT1	31523240	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.551000	0.45820	0.999000	0.39023	0.482000	0.46254	GAA		0.318	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	
ELP2	55250	broad.mit.edu	37	18	33750047	33750047	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:33750047G>A	ENST00000358232.6	+	20	2161	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	ELP2_ENST00000351393.6_Missense_Mutation_p.D674N|ELP2_ENST00000350494.6_Missense_Mutation_p.D695N|ELP2_ENST00000442325.2_Missense_Mutation_p.D765N|ELP2_ENST00000542824.1_Missense_Mutation_p.D630N|ELP2_ENST00000423854.2_Missense_Mutation_p.D630N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	700					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.D700N(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGGTGAGTGCGACTCCACTGA	0.527																																					p.D700N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2098A	18						.						189.0	138.0	155.0					18																	33750047		2203	4300	6503	32004045	SO:0001583	missense	55250	exon20			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2098G>A	18.37:g.33750047G>A	ENSP00000350967:p.Asp700Asn	Somatic		Capture	Illumina HiSeq	Phase_I	32004045	NM_018255	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796323	0.31777	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.7	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.445604	0.26851	N	0.022163	T	0.39886	0.1095	N	0.08118	0	0.26457	N	0.975506	B;B;B;B;B;B	0.14012	0.003;0.006;0.005;0.009;0.003;0.003	B;B;B;B;B;B	0.10450	0.001;0.001;0.002;0.004;0.005;0.001	T	0.16600	-1.0397	10	0.21014	T	0.42	-1.9155	6.8507	0.24012	0.2239:0.0:0.7761:0.0	.	695;765;630;630;674;700	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	N	700;674;765;630;695;630	ENSP00000350967:D700N;ENSP00000257191:D674N;ENSP00000414851:D765N;ENSP00000391202:D630N;ENSP00000316051:D695N;ENSP00000443800:D630N	ENSP00000316051:D695N	D	+	1	0	ELP2	32004045	0.976000	0.34144	0.570000	0.28473	0.879000	0.50718	2.437000	0.44828	1.170000	0.42753	0.591000	0.81541	GAC		0.527	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
MOCOS	55034	broad.mit.edu	37	18	33828950	33828950	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:33828950G>C	ENST00000261326.5	+	10	2047	c.2026G>C	c.(2026-2028)Gtc>Ctc	p.V676L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.V676L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCAAAGCAGGGTCTGTGCTGA	0.453																																					p.V676L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2026C	18						.						84.0	79.0	81.0					18																	33828950		2203	4300	6503	32082948	SO:0001583	missense	55034	exon10			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2026G>C	18.37:g.33828950G>C	ENSP00000261326:p.Val676Leu	Somatic		Capture	Illumina HiSeq	Phase_I	32082948	NM_017947		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146539	0.77888	.	.	ENSG00000075643	ENST00000261326	T	0.22134	1.97	5.28	5.28	0.74379	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.76170	2.325	0.29217	N	0.874197	D	0.71674	0.998	D	0.71656	0.974	T	0.43798	-0.9369	10	0.51188	T	0.08	-28.8037	14.4206	0.67180	0.0:0.0:1.0:0.0	.	676	Q96EN8	MOCOS_HUMAN	L	676	ENSP00000261326:V676L	ENSP00000261326:V676L	V	+	1	0	MOCOS	32082948	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.856000	0.69518	2.458000	0.83093	0.561000	0.74099	GTC		0.453	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
COLEC12	81035	broad.mit.edu	37	18	346479	346479	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:346479A>C	ENST00000400256.3	-	5	1350	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	381					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.D381E(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGGAGGTCAGATCATCTGTGT	0.468																																					p.D381E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1143G	18						.						230.0	191.0	205.0					18																	346479		2203	4300	6503	336479	SO:0001583	missense	81035	exon5			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1143T>G	18.37:g.346479A>C	ENSP00000383115:p.Asp381Glu	Somatic		Capture	Illumina HiSeq	Phase_I	336479	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.642129	0.00799	.	.	ENSG00000158270	ENST00000400256	D	0.96365	-3.99	5.76	-2.7	0.06004	.	0.256923	0.42053	D	0.000770	D	0.86293	0.5898	N	0.08118	0	0.25163	N	0.990336	B	0.06786	0.001	B	0.06405	0.002	T	0.74813	-0.3537	10	0.02654	T	1	-25.1926	12.1867	0.54243	0.2567:0.1295:0.6138:0.0	.	381	Q5KU26	COL12_HUMAN	E	381	ENSP00000383115:D381E	ENSP00000383115:D381E	D	-	3	2	COLEC12	336479	0.010000	0.17322	0.963000	0.40424	0.250000	0.25880	-0.931000	0.03967	-0.258000	0.09446	-0.256000	0.11100	GAT		0.468	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
KIAA1328	57536	broad.mit.edu	37	18	34424255	34424255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:34424255G>T	ENST00000280020.5	+	4	344	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.E108*|KIAA1328_ENST00000591619.1_Nonsense_Mutation_p.E104*|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_Intron	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	108								p.E108*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTTAATTAAAGAACTGGCCAG	0.284																																					p.E108X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G322T	18						.						35.0	34.0	34.0					18																	34424255		1812	4063	5875	32678253	SO:0001587	stop_gained	57536	exon4			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.322G>T	18.37:g.34424255G>T	ENSP00000280020:p.Glu108*	Somatic		Capture	Illumina HiSeq	Phase_I	32678253	NM_020776	Q05DL0|Q49AG6|Q9P2L8	Nonsense_Mutation	SNP	ENST00000280020.5	37	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903634	0.97087	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3053	0.90179	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000280020:E108X	E	+	1	0	KIAA1328	32678253	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.816000	0.75247	2.687000	0.91594	0.563000	0.77884	GAA		0.284	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776	
PIK3C3	5289	broad.mit.edu	37	18	39647366	39647366	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:39647366C>T	ENST00000262039.4	+	24	2624	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	PIK3C3_ENST00000398870.3_Silent_p.F783F|PIK3C3_ENST00000587328.1_Silent_p.F24F|PIK3C3_ENST00000593098.1_Silent_p.F331F|PIK3C3_ENST00000588156.1_Silent_p.F70F	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	846	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.F846F(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGGATAAATTCCGCTTAGACC	0.408										TSP Lung(28;0.18)																											p.F846F	NSCLC(37;552 1060 2683 16430 37914)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2538T	18						.						136.0	121.0	126.0					18																	39647366		2203	4300	6503	37901364	SO:0001819	synonymous_variant	5289	exon24			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2538C>T	18.37:g.39647366C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37901364	NM_002647	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																				0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
SYT4	6860	broad.mit.edu	37	18	40850375	40850375	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:40850375C>T	ENST00000255224.3	-	4	1577	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	SYT4_ENST00000590752.1_Silent_p.E385E|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	403					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E403E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTTCCAGTGCTCTCCACCAG	0.483																																					p.E403E	NSCLC(85;81 1419 2855 22820 35912)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1209A	18						.						161.0	161.0	161.0					18																	40850375		2203	4300	6503	39104373	SO:0001819	synonymous_variant	6860	exon4			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1209G>A	18.37:g.40850375C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39104373	NM_020783	B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	CCDS11922.1																																																																																				0.483	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
ATP5A1	498	broad.mit.edu	37	18	43669913	43669913	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:43669913C>T	ENST00000398752.6	-	4	480	c.359G>A	c.(358-360)gGa>gAa	p.G120E	ATP5A1_ENST00000593152.2_Missense_Mutation_p.G70E|ATP5A1_ENST00000590665.1_Missense_Mutation_p.G120E|ATP5A1_ENST00000282050.2_Missense_Mutation_p.G120E	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	120					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.G120E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TTTATCATTTCCAAACACGAC	0.453																																					p.G120E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	18						.						102.0	83.0	90.0					18																	43669913		2203	4300	6503	41923911	SO:0001583	missense	498	exon4			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.359G>A	18.37:g.43669913C>T	ENSP00000381736:p.Gly120Glu	Somatic		Capture	Illumina HiSeq	Phase_I	41923911	NM_004046	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849349	0.91277	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.86497	-2.13;-2.13	5.14	5.14	0.70334	ATPase, F1/A1 complex, alpha subunit, N-terminal (1);ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.96398	3.815	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.97238	0.9889	10	0.87932	D	0	-11.1695	18.6414	0.91397	0.0:1.0:0.0:0.0	.	120	P25705	ATPA_HUMAN	E	120;120;70	ENSP00000282050:G120E;ENSP00000381736:G120E	ENSP00000282050:G120E	G	-	2	0	ATP5A1	41923911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.399000	0.81585	0.655000	0.94253	GGA		0.453	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
ST8SIA5	29906	broad.mit.edu	37	18	44272196	44272196	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:44272196C>T	ENST00000315087.7	-	3	907	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.D119N|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.D52N	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	83					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.D83N(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TTCCACCTGTCGAACAGCTCT	0.527																																					p.D83N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G247A	18						.						174.0	126.0	142.0					18																	44272196		2203	4300	6503	42526194	SO:0001583	missense	29906	exon3			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.247G>A	18.37:g.44272196C>T	ENSP00000321343:p.Asp83Asn	Somatic		Capture	Illumina HiSeq	Phase_I	42526194	NM_013305	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422376	0.83559	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.46819	0.89;0.86;1.48	4.89	4.89	0.63831	.	0.220708	0.46758	D	0.000279	T	0.36441	0.0967	L	0.34521	1.04	0.49051	D	0.999743	P;B;B;P	0.35844	0.524;0.414;0.272;0.489	B;B;B;B	0.29267	0.068;0.051;0.019;0.1	T	0.15954	-1.0419	10	0.24483	T	0.36	-0.9301	18.4782	0.90800	0.0:1.0:0.0:0.0	.	52;119;52;83	F5H8D1;B7Z1K9;B7Z5F7;O15466	.;.;.;SIA8E_HUMAN	N	83;119;52	ENSP00000321343:D83N;ENSP00000445492:D119N;ENSP00000443683:D52N	ENSP00000321343:D83N	D	-	1	0	ST8SIA5	42526194	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.284000	0.78650	2.434000	0.82447	0.555000	0.69702	GAC		0.527	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
SMAD2	4087	broad.mit.edu	37	18	45371747	45371747	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:45371747C>A	ENST00000402690.2	-	10	1638	c.1244G>T	c.(1243-1245)aGa>aTa	p.R415I	SMAD2_ENST00000356825.4_Missense_Mutation_p.R385I|SMAD2_ENST00000586040.1_Missense_Mutation_p.R385I|SMAD2_ENST00000262160.6_Missense_Mutation_p.R415I|SMAD2_ENST00000591214.1_Missense_Mutation_p.R385I	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	415	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.R415I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AAAACTCATTCTTATGGTGCA	0.393																																					p.R385I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1154T	18						.						114.0	110.0	112.0					18																	45371747		2203	4300	6503	43625745	SO:0001583	missense	4087	exon9			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1244G>T	18.37:g.45371747C>A	ENSP00000384449:p.Arg415Ile	Somatic		Capture	Illumina HiSeq	Phase_I	43625745	NM_001135937		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248117	0.95305	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.98207	-4.79;-4.79;-4.79	5.53	5.53	0.82687	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.999	D	0.98773	1.0729	10	0.87932	D	0	.	19.4758	0.94987	0.0:1.0:0.0:0.0	.	385;385;415	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	I	415;385;415	ENSP00000262160:R415I;ENSP00000349282:R385I;ENSP00000384449:R415I	ENSP00000262160:R415I	R	-	2	0	SMAD2	43625745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.603000	0.88011	0.650000	0.86243	AGA		0.393	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
ME2	4200	broad.mit.edu	37	18	48447515	48447515	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:48447515A>C	ENST00000321341.5	+	10	1286	c.1014A>C	c.(1012-1014)caA>caC	p.Q338H	ME2_ENST00000382927.3_Missense_Mutation_p.Q338H	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	338					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.Q338H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		AAGAGGCACAAAAGAAAATCT	0.299																																					p.Q338H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1014C	18						.						62.0	64.0	63.0					18																	48447515		2203	4299	6502	46701513	SO:0001583	missense	4200	exon10			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1014A>C	18.37:g.48447515A>C	ENSP00000321070:p.Gln338His	Somatic		Capture	Illumina HiSeq	Phase_I	46701513	NM_001168335	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606020	0.28623	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.30714	1.52;1.52	5.92	-4.97	0.03029	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.429423	0.25695	N	0.028907	T	0.11239	0.0274	N	0.16166	0.38	0.20489	N	0.999898	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.06752	-1.0809	10	0.54805	T	0.06	-5.2193	1.7342	0.02938	0.249:0.1786:0.3648:0.2077	.	338;338	Q9BWL6;P23368	.;MAOM_HUMAN	H	338	ENSP00000321070:Q338H;ENSP00000372384:Q338H	ENSP00000321070:Q338H	Q	+	3	2	ME2	46701513	0.000000	0.05858	0.978000	0.43139	0.992000	0.81027	-2.323000	0.01117	-0.324000	0.08589	-0.263000	0.10527	CAA		0.299	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396	
ELAC1	55520	broad.mit.edu	37	18	48510606	48510606	+	Missense_Mutation	SNP	C	C	T	rs375623778		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:48510606C>T	ENST00000269466.3	+	3	405	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.R100W|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	100					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)	p.R100W(1)		kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTAGGGCTTCGGGACTTTAT	0.512																																					p.R100W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298T	18						.	C	TRP/ARG	0,4406		0,0,2203	112.0	102.0	106.0		298	6.2	1.0	18		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	ELAC1	NM_018696.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	100/364	48510606	1,13005	2203	4300	6503	46764604	SO:0001583	missense	55520	exon3			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.298C>T	18.37:g.48510606C>T	ENSP00000269466:p.Arg100Trp	Somatic		Capture	Illumina HiSeq	Phase_I	46764604	NM_018696	Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312505	0.81358	0.0	1.16E-4	ENSG00000141642	ENST00000269466	T	0.43294	0.95	6.16	6.16	0.99307	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.965	T	0.76650	-0.2881	10	0.87932	D	0	.	14.4668	0.67490	0.1472:0.8528:0.0:0.0	.	100;100	Q53EY2;Q9H777	.;RNZ1_HUMAN	W	100	ENSP00000269466:R100W	ENSP00000269466:R100W	R	+	1	2	ELAC1	46764604	0.985000	0.35326	1.000000	0.80357	0.967000	0.64934	0.322000	0.19576	2.937000	0.99478	0.650000	0.86243	CGG		0.512	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2		
ELAC1	55520	broad.mit.edu	37	18	48510695	48510695	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:48510695A>T	ENST00000269466.3	+	3	494	c.387A>T	c.(385-387)caA>caT	p.Q129H	RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.Q129H|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	129					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)	p.Q129H(1)		kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CAGCAGATCAATGTCCTGCAG	0.458																																					p.Q129H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A387T	18						.						111.0	97.0	102.0					18																	48510695		2203	4300	6503	46764693	SO:0001583	missense	55520	exon3			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.387A>T	18.37:g.48510695A>T	ENSP00000269466:p.Gln129His	Somatic		Capture	Illumina HiSeq	Phase_I	46764693	NM_018696	Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516520	0.27123	.	.	ENSG00000141642	ENST00000269466	T	0.48201	0.82	6.16	4.38	0.52667	Beta-lactamase-like (1);	0.100726	0.64402	D	0.000001	T	0.51719	0.1691	M	0.73598	2.24	0.80722	D	1	P;P	0.42078	0.594;0.77	B;B	0.42692	0.198;0.395	T	0.55817	-0.8081	10	0.66056	D	0.02	.	11.721	0.51683	0.1469:0.0:0.8531:0.0	.	129;129	Q53EY2;Q9H777	.;RNZ1_HUMAN	H	129	ENSP00000269466:Q129H	ENSP00000269466:Q129H	Q	+	3	2	ELAC1	46764693	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	3.763000	0.55257	0.919000	0.36945	-0.248000	0.11899	CAA		0.458	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2		
POLI	11201	broad.mit.edu	37	18	51820067	51820067	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:51820067A>C	ENST00000579534.1	+	10	1596	c.1453A>C	c.(1453-1455)Aac>Cac	p.N485H	POLI_ENST00000582366.1_3'UTR|POLI_ENST00000406285.3_Missense_Mutation_p.N406H|POLI_ENST00000217800.5_Missense_Mutation_p.N359H|POLI_ENST00000579434.1_Missense_Mutation_p.N382H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	485					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.N460H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CAAAGAAACAAACCGGGATTT	0.308								DNA polymerases (catalytic subunits)																													p.N485H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1453C	18						.						19.0	20.0	20.0					18																	51820067		2195	4296	6491	50074065	SO:0001583	missense	11201	exon10				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1453A>C	18.37:g.51820067A>C	ENSP00000462664:p.Asn485His	Somatic		Capture	Illumina HiSeq	Phase_I	50074065	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	A	3.278	-0.147710	0.06627	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.50277	0.75	5.4	4.25	0.50352	.	0.532223	0.20846	N	0.084602	T	0.54398	0.1856	M	0.64997	1.995	0.24888	N	0.992182	D;D	0.67145	0.996;0.993	P;P	0.56700	0.804;0.635	T	0.50303	-0.8844	10	0.59425	D	0.04	-10.0497	5.6671	0.17700	0.7404:0.1717:0.0879:0.0	.	405;485	B7Z780;Q9UNA4	.;POLI_HUMAN	H	406;485	ENSP00000385196:N406H	ENSP00000217800:N485H	N	+	1	0	POLI	50074065	0.008000	0.16893	0.926000	0.36857	0.280000	0.26924	1.281000	0.33214	1.003000	0.39130	0.533000	0.62120	AAC		0.308	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
STARD6	147323	broad.mit.edu	37	18	51851226	51851226	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:51851226G>C	ENST00000581310.1	-	9	872	c.499C>G	c.(499-501)Cta>Gta	p.L167V	STARD6_ENST00000580990.2_Missense_Mutation_p.L43V|STARD6_ENST00000307844.3_Missense_Mutation_p.L167V			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	167	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.L167V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AACATCACTAGTTTGGAATAT	0.338																																					p.L167V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499G	18						.						101.0	100.0	100.0					18																	51851226		2202	4300	6502	50105224	SO:0001583	missense	147323	exon6			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.499C>G	18.37:g.51851226G>C	ENSP00000462349:p.Leu167Val	Somatic		Capture	Illumina HiSeq	Phase_I	50105224	NM_139171		Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043505	0.19748	.	.	ENSG00000174448	ENST00000307844	T	0.76316	-1.01	5.53	-1.6	0.08426	Lipid-binding START (3);START-like domain (1);	0.000000	0.49305	D	0.000142	T	0.80660	0.4665	L	0.59912	1.85	0.33352	D	0.571172	D	0.76494	0.999	D	0.85130	0.997	T	0.79227	-0.1890	10	0.18710	T	0.47	.	9.7044	0.40207	0.5808:0.0:0.4192:0.0	.	167	P59095	STAR6_HUMAN	V	167	ENSP00000310814:L167V	ENSP00000310814:L167V	L	-	1	2	STARD6	50105224	0.978000	0.34361	0.993000	0.49108	0.962000	0.63368	-0.159000	0.10056	-0.157000	0.11059	-0.474000	0.04947	CTA		0.338	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171	
DYNAP	284254	broad.mit.edu	37	18	52265058	52265058	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:52265058C>T	ENST00000321600.1	+	3	361	c.315C>T	c.(313-315)tgC>tgT	p.C105C	DYNAP_ENST00000585973.1_Silent_p.C53C	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	105					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C105C(1)									AAGAATATTGCCGCAATGACT	0.318																																					p.C105C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	18						.						82.0	75.0	77.0					18																	52265058		2203	4300	6503	50416056	SO:0001819	synonymous_variant	284254	exon3			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.315C>T	18.37:g.52265058C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50416056	NM_173629		Silent	SNP	ENST00000321600.1	37	CCDS11957.1																																																																																				0.318	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629	
RAB27B	5874	broad.mit.edu	37	18	52556480	52556480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:52556480G>A	ENST00000262094.5	+	6	1014	c.493G>A	c.(493-495)Gca>Aca	p.A165T	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	165					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)	p.A165T(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AACAAGTGCAGCAACTGGACA	0.393																																					p.A165T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493A	18						.						103.0	95.0	98.0					18																	52556480		2203	4300	6503	50707478	SO:0001583	missense	5874	exon6			U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"""RAB, member RAS oncogene"""	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.493G>A	18.37:g.52556480G>A	ENSP00000262094:p.Ala165Thr	Somatic		Capture	Illumina HiSeq	Phase_I	50707478	NM_004163	B2RAB0|Q9BZB6	Missense_Mutation	SNP	ENST00000262094.5	37	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912870	0.92178	.	.	ENSG00000041353	ENST00000262094	T	0.76839	-1.05	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	L	0.31476	0.935	0.80722	D	1	P	0.48089	0.905	P	0.50490	0.642	T	0.79683	-0.1701	10	0.87932	D	0	-4.6567	19.3531	0.94398	0.0:0.0:1.0:0.0	.	165	O00194	RB27B_HUMAN	T	165	ENSP00000262094:A165T	ENSP00000262094:A165T	A	+	1	0	RAB27B	50707478	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.671000	0.83941	2.941000	0.99782	0.655000	0.94253	GCA		0.393	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	
WDR7	23335	broad.mit.edu	37	18	54424012	54424012	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:54424012G>A	ENST00000254442.3	+	15	2399	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.G730R	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	730					hematopoietic progenitor cell differentiation (GO:0002244)			p.G730R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCAGACAAAGGGGGCTCTTT	0.428																																					p.G730R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2188A	18						.						60.0	64.0	63.0					18																	54424012		2203	4300	6503	52575010	SO:0001583	missense	23335	exon15			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2188G>A	18.37:g.54424012G>A	ENSP00000254442:p.Gly730Arg	Somatic		Capture	Illumina HiSeq	Phase_I	52575010	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897677	0.72639	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.64991	-0.13;-0.12	5.96	5.96	0.96718	.	0.050906	0.85682	D	0.000000	T	0.53850	0.1822	N	0.08118	0	0.80722	D	1	B;P	0.34780	0.001;0.468	B;P	0.45119	0.006;0.47	T	0.50617	-0.8807	10	0.20519	T	0.43	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	730;730	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	730	ENSP00000254442:G730R;ENSP00000350187:G730R	ENSP00000254442:G730R	G	+	1	0	WDR7	52575010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.632000	0.98428	2.826000	0.97356	0.655000	0.94253	GGG		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
ST8SIA3	51046	broad.mit.edu	37	18	55024154	55024154	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:55024154C>A	ENST00000324000.3	+	3	2347	c.313C>A	c.(313-315)Ctt>Att	p.L105I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	105					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.L105I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCAAGAAATTCTTCAGCATGT	0.318																																					p.L105I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C313A	18						.						39.0	43.0	41.0					18																	55024154		2202	4300	6502	53175152	SO:0001583	missense	51046	exon3			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.313C>A	18.37:g.55024154C>A	ENSP00000320431:p.Leu105Ile	Somatic		Capture	Illumina HiSeq	Phase_I	53175152	NM_015879	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749406	0.30955	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.15256	2.44	5.74	3.95	0.45737	.	0.271848	0.39759	N	0.001267	T	0.12944	0.0314	L	0.40543	1.245	0.42570	D	0.99317	B	0.30763	0.294	B	0.16722	0.016	T	0.07347	-1.0777	10	0.32370	T	0.25	-26.7161	11.5084	0.50481	0.0:0.8065:0.1254:0.0681	.	105	O43173	SIA8C_HUMAN	I	212;105	ENSP00000320431:L105I	ENSP00000320431:L105I	L	+	1	0	ST8SIA3	53175152	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.575000	0.53870	0.776000	0.33473	-0.126000	0.14955	CTT		0.318	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	
ALPK2	115701	broad.mit.edu	37	18	56202169	56202169	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:56202169C>A	ENST00000361673.3	-	5	5463	c.5250G>T	c.(5248-5250)aaG>aaT	p.K1750N	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1750						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K1750N(1)|p.K1111N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGGCTGAGTTCTTTCTGATAT	0.418																																					p.K1750N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5250T	18						.						175.0	167.0	170.0					18																	56202169		2203	4300	6503	54353149	SO:0001583	missense	115701	exon5			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5250G>T	18.37:g.56202169C>A	ENSP00000354991:p.Lys1750Asn	Somatic		Capture	Illumina HiSeq	Phase_I	54353149	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369523	0.24771	.	.	ENSG00000198796	ENST00000361673	T	0.57752	0.38	5.4	3.61	0.41365	.	0.566191	0.18024	N	0.154147	T	0.44561	0.1299	L	0.41824	1.3	0.09310	N	1	P;P	0.46859	0.885;0.817	P;B	0.45881	0.496;0.3	T	0.37549	-0.9701	10	0.62326	D	0.03	-10.604	4.9884	0.14202	0.0:0.6415:0.1752:0.1833	.	1745;1750	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	N	1750	ENSP00000354991:K1750N	ENSP00000354991:K1750N	K	-	3	2	ALPK2	54353149	0.386000	0.25180	0.014000	0.15608	0.010000	0.07245	0.597000	0.24059	1.272000	0.44329	0.561000	0.74099	AAG		0.418	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56203132	56203132	+	Silent	SNP	G	G	A	rs147746754	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:56203132G>A	ENST00000361673.3	-	5	4500	c.4287C>T	c.(4285-4287)ggC>ggT	p.G1429G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1429						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G790G(1)|p.G1429G(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCTCTGGCGCCCTGTGGTG	0.507																																					p.G1429G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4287T	18						.	G		1,4405	2.1+/-5.4	0,1,2202	54.0	54.0	54.0		4287	1.9	0.0	18	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ALPK2	NM_052947.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1429/2171	56203132	3,13003	2203	4300	6503	54354112	SO:0001819	synonymous_variant	115701	exon5			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4287C>T	18.37:g.56203132G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54354112	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.507	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
MALT1	10892	broad.mit.edu	37	18	56401562	56401562	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:56401562C>A	ENST00000348428.3	+	12	1682	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.P464Q	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	475	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.P464Q(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GATACCATTCCAATCTTGGAT	0.358			T	BIRC3	MALT																																p.P464Q			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1391A	18						.						121.0	103.0	109.0					18																	56401562		2203	4300	6503	54552542	SO:0001583	missense	10892	exon11				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1424C>A	18.37:g.56401562C>A	ENSP00000319279:p.Pro475Gln	Somatic		Capture	Illumina HiSeq	Phase_I	54552542	NM_173844	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057492	0.55325	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.42900	0.96;0.96	5.88	5.88	0.94601	Peptidase C14, caspase catalytic (1);	0.158908	0.56097	D	0.000021	T	0.48429	0.1499	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;P	0.62014	0.835;0.897	T	0.36163	-0.9759	10	0.33940	T	0.23	.	9.1212	0.36788	0.0:0.8452:0.0:0.1548	.	464;475	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	Q	475;464	ENSP00000319279:P475Q;ENSP00000304161:P464Q	ENSP00000304161:P464Q	P	+	2	0	MALT1	54552542	0.979000	0.34478	0.994000	0.49952	0.975000	0.68041	2.431000	0.44775	2.779000	0.95612	0.650000	0.86243	CCA		0.358	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
CDH20	28316	broad.mit.edu	37	18	59206330	59206330	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:59206330C>A	ENST00000262717.4	+	9	1880	c.1482C>A	c.(1480-1482)ttC>ttA	p.F494L	CDH20_ENST00000538374.1_Missense_Mutation_p.F494L|CDH20_ENST00000536675.2_Missense_Mutation_p.F494L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	494	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F494L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTCCAGAGTTCCCCAGATTCT	0.473																																					p.F494L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1482A	18						.						177.0	163.0	168.0					18																	59206330		2203	4300	6503	57357310	SO:0001583	missense	28316	exon8			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1482C>A	18.37:g.59206330C>A	ENSP00000262717:p.Phe494Leu	Somatic		Capture	Illumina HiSeq	Phase_I	57357310	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529417	0.27387	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.28895	1.59;1.59;1.59	5.77	3.95	0.45737	Cadherin (3);Cadherin-like (1);	0.054965	0.64402	D	0.000001	T	0.24851	0.0603	L	0.51422	1.61	0.47862	D	0.999532	B	0.19200	0.034	B	0.20384	0.029	T	0.05053	-1.0909	10	0.15499	T	0.54	.	9.1132	0.36741	0.0:0.7259:0.0:0.2741	.	494	Q9HBT6	CAD20_HUMAN	L	494	ENSP00000444767:F494L;ENSP00000442226:F494L;ENSP00000262717:F494L	ENSP00000262717:F494L	F	+	3	2	CDH20	57357310	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.953000	0.29162	1.413000	0.46997	0.643000	0.83706	TTC		0.473	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
PHLPP1	23239	broad.mit.edu	37	18	60563103	60563103	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:60563103C>A	ENST00000262719.5	+	6	2537	c.2303C>A	c.(2302-2304)tCt>tAt	p.S768Y	PHLPP1_ENST00000400316.4_Missense_Mutation_p.S256Y			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	768					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.S255Y(1)		endometrium(2)|kidney(2)|lung(13)	17						CTGGGTCTTTCTTTCAATGAA	0.403																																					p.S768Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2303A	18						.						165.0	157.0	159.0					18																	60563103		1833	4092	5925	58714083	SO:0001583	missense	23239	exon6			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2303C>A	18.37:g.60563103C>A	ENSP00000262719:p.Ser768Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	58714083	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905379	0.92107	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.62232	0.04;0.04	5.07	5.07	0.68467	.	.	.	.	.	T	0.80232	0.4585	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81132	-0.1072	9	0.52906	T	0.07	-11.8676	18.6605	0.91470	0.0:1.0:0.0:0.0	.	768	O60346	PHLP1_HUMAN	Y	256;768	ENSP00000383170:S256Y;ENSP00000262719:S768Y	ENSP00000262719:S768Y	S	+	2	0	PHLPP1	58714083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.655000	0.90218	0.655000	0.94253	TCT		0.403	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
SERPINB4	6318	broad.mit.edu	37	18	61308203	61308203	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:61308203T>G	ENST00000341074.5	-	5	489	c.374A>C	c.(373-375)aAa>aCa	p.K125T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.K125T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	125					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K125T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTGGTAAAATTTCTTGATGGC	0.343																																					p.K125T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A374C	18						.						86.0	84.0	85.0					18																	61308203		2203	4300	6503	59459183	SO:0001583	missense	6318	exon5			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.374A>C	18.37:g.61308203T>G	ENSP00000343445:p.Lys125Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59459183	NM_002974	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.53|17.53	3.413370|3.413370	0.62511|0.62511	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.85411|.	-1.98;-1.98;-1.98|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Serpin domain (3);|.	0.807009|.	0.10350|.	N|.	0.685153|.	T|T	0.56848|0.56848	0.2013|0.2013	M|M	0.66939|0.66939	2.045|2.045	0.26245|0.26245	N|N	0.978812|0.978812	P;P|.	0.46784|.	0.884;0.836|.	P;P|.	0.57371|.	0.819;0.794|.	T|T	0.51212|0.51212	-0.8734|-0.8734	10|5	0.51188|.	T|.	0.08|.	.|.	13.057|13.057	0.58986|0.58986	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	125;125|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	T|H	125;125;82|127	ENSP00000343445:K125T;ENSP00000348795:K125T;ENSP00000399796:K82T|.	ENSP00000343445:K125T|.	K|N	-|-	2|1	0|0	SERPINB4|SERPINB4	59459183|59459183	0.946000|0.946000	0.32159|0.32159	0.140000|0.140000	0.22221|0.22221	0.004000|0.004000	0.04260|0.04260	4.556000|4.556000	0.60775|0.60775	1.841000|1.841000	0.53522|0.53522	0.491000|0.491000	0.48974|0.48974	AAA|AAT		0.343	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
SERPINB3	6317	broad.mit.edu	37	18	61324080	61324080	+	Silent	SNP	G	G	A	rs143869105		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:61324080G>A	ENST00000283752.5	-	7	896	c.753C>T	c.(751-753)atC>atT	p.I251I	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	251					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.I251I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGAGACCATCGATTTCATTTG	0.418																																					p.I251I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C753T	18						.						225.0	200.0	208.0					18																	61324080		2203	4300	6503	59475060	SO:0001819	synonymous_variant	6318	exon7			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.753C>T	18.37:g.61324080G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59475060	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	CCDS11987.1																																																																																				0.418	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
CLUL1	27098	broad.mit.edu	37	18	625017	625017	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:625017C>A	ENST00000400606.2	+	4	553	c.408C>A	c.(406-408)tcC>tcA	p.S136S	CLUL1_ENST00000579494.1_Silent_p.S136S|CLUL1_ENST00000338387.7_Silent_p.S136S|CLUL1_ENST00000581619.1_Silent_p.S161S|CLUL1_ENST00000540035.1_Silent_p.S188S|CLUL1_ENST00000580436.1_3'UTR	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	136					cell death (GO:0008219)	extracellular region (GO:0005576)		p.S136S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTAGCTGGTCCTCTGTGAAAA	0.393																																					p.S136S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408A	18						.						54.0	52.0	52.0					18																	625017		1826	4082	5908	615017	SO:0001819	synonymous_variant	27098	exon4			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.408C>A	18.37:g.625017C>A		Somatic		Capture	Illumina HiSeq	Phase_I	615017	NM_014410	A0FDN7	Silent	SNP	ENST00000400606.2	37	CCDS42405.1																																																																																				0.393	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		
SERPINB2	5055	broad.mit.edu	37	18	61569019	61569019	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:61569019C>T	ENST00000299502.4	+	6	661	c.581C>T	c.(580-582)aCc>aTc	p.T194I	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.T194I	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	194					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T194I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GATGGGGATACCAGGATGGTC	0.378																																					p.T194I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C581T	18						.						116.0	117.0	116.0					18																	61569019		2203	4300	6503	59719999	SO:0001583	missense	5055	exon6			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.581C>T	18.37:g.61569019C>T	ENSP00000299502:p.Thr194Ile	Somatic		Capture	Illumina HiSeq	Phase_I	59719999	NM_002575	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002962	0.74932	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.87809	-2.3;-2.3	5.79	5.79	0.91817	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95807	0.8838	10	0.87932	D	0	.	17.5351	0.87827	0.0:1.0:0.0:0.0	.	194	P05120	PAI2_HUMAN	I	194	ENSP00000299502:T194I;ENSP00000401645:T194I	ENSP00000299502:T194I	T	+	2	0	SERPINB2	59719999	1.000000	0.71417	0.872000	0.34217	0.306000	0.27790	7.280000	0.78610	2.751000	0.94390	0.650000	0.86243	ACC		0.378	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
CDH19	28513	broad.mit.edu	37	18	64172259	64172259	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:64172259G>A	ENST00000262150.2	-	12	2401	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L703L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TAGCTTCTTCGAGCTTTTCCA	0.502																																					p.L703L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2109T	18						.						142.0	136.0	138.0					18																	64172259		2203	4300	6503	62323239	SO:0001819	synonymous_variant	28513	exon12			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2109C>T	18.37:g.64172259G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62323239	NM_021153	O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																				0.502	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153	
DSEL	92126	broad.mit.edu	37	18	65178622	65178622	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:65178622G>A	ENST00000310045.7	-	2	4727	c.3254C>T	c.(3253-3255)tCg>tTg	p.S1085L	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1075					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S1085L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGCATAACCCGAATTTAAGTT	0.348																																					p.S1085L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3254T	18						.						68.0	66.0	66.0					18																	65178622		2203	4299	6502	63329602	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3254C>T	18.37:g.65178622G>A	ENSP00000310565:p.Ser1085Leu	Somatic		Capture	Illumina HiSeq	Phase_I	63329602	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494359	0.26774	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18502	2.21	4.79	3.92	0.45320	Sulfotransferase domain (1);	0.605398	0.15072	U	0.282136	T	0.15132	0.0365	L	0.44542	1.39	0.27541	N	0.950786	B	0.11235	0.004	B	0.06405	0.002	T	0.11397	-1.0589	10	0.44086	T	0.13	-3.9567	8.9614	0.35849	0.0806:0.0:0.7627:0.1568	.	1075	Q8IZU8	DSEL_HUMAN	L	1085;1075	ENSP00000310565:S1085L	ENSP00000310565:S1085L	S	-	2	0	DSEL	63329602	0.996000	0.38824	0.951000	0.38953	0.387000	0.30353	2.316000	0.43761	1.134000	0.42165	0.563000	0.77884	TCG		0.348	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
DSEL	92126	broad.mit.edu	37	18	65178697	65178697	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:65178697G>T	ENST00000310045.7	-	2	4652	c.3179C>A	c.(3178-3180)tCt>tAt	p.S1060Y	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1050					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S1060Y(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATTCTTCAAAGAATAAAGACT	0.368																																					p.S1060Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3179A	18						.						58.0	61.0	60.0					18																	65178697		2203	4300	6503	63329677	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3179C>A	18.37:g.65178697G>T	ENSP00000310565:p.Ser1060Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	63329677	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507441	0.64410	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20200	2.09	4.94	4.94	0.65067	Sulfotransferase domain (1);	0.169630	0.40302	U	0.001129	T	0.37945	0.1022	M	0.62723	1.935	0.44439	D	0.997367	B	0.30104	0.268	P	0.44732	0.459	T	0.33574	-0.9863	10	0.66056	D	0.02	-13.5422	18.2215	0.89903	0.0:0.0:1.0:0.0	.	1050	Q8IZU8	DSEL_HUMAN	Y	1060;1050	ENSP00000310565:S1060Y	ENSP00000310565:S1060Y	S	-	2	0	DSEL	63329677	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.853000	0.86934	2.292000	0.77174	0.558000	0.71614	TCT		0.368	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
DSEL	92126	broad.mit.edu	37	18	65179833	65179833	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:65179833C>A	ENST00000310045.7	-	2	3516	c.2043G>T	c.(2041-2043)atG>atT	p.M681I	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	671					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.M681I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTGTGGGTTCCATCTGAAAAG	0.383																																					p.M681I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2043T	18						.						76.0	78.0	78.0					18																	65179833		2203	4300	6503	63330813	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2043G>T	18.37:g.65179833C>A	ENSP00000310565:p.Met681Ile	Somatic		Capture	Illumina HiSeq	Phase_I	63330813	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070823	0.36566	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18016	2.24	5.4	5.4	0.78164	.	0.048309	0.85682	U	0.000000	T	0.20941	0.0504	M	0.68317	2.08	0.42417	D	0.992621	B	0.26318	0.146	B	0.21360	0.034	T	0.02173	-1.1201	10	0.62326	D	0.03	.	13.1393	0.59426	0.0:0.9222:0.0:0.0778	.	671	Q8IZU8	DSEL_HUMAN	I	681;671	ENSP00000310565:M681I	ENSP00000310565:M681I	M	-	3	0	DSEL	63330813	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	3.206000	0.51098	2.552000	0.86080	0.462000	0.41574	ATG		0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
DSEL	92126	broad.mit.edu	37	18	65180403	65180403	+	Silent	SNP	T	T	C	rs549083996		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:65180403T>C	ENST00000310045.7	-	2	2946	c.1473A>G	c.(1471-1473)ggA>ggG	p.G491G	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	481					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.G491G(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CAAATACTTGTCCATTGGGGG	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.001				p.G491G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1473G	18						.						105.0	100.0	102.0					18																	65180403		2203	4300	6503	63331383	SO:0001819	synonymous_variant	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1473A>G	18.37:g.65180403T>C		Somatic		Capture	Illumina HiSeq	Phase_I	63331383	NM_032160	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																				0.433	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
ENOSF1	55556	broad.mit.edu	37	18	690630	690630	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:690630C>T	ENST00000251101.7	-	8	625	c.537G>A	c.(535-537)gaG>gaA	p.E179E	ENOSF1_ENST00000340116.7_Splice_Site_p.E200E|ENOSF1_ENST00000383578.3_Splice_Site_p.E97E|ENOSF1_ENST00000319815.6_5'Flank|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000580982.1_Splice_Site_p.E103E	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	179					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)	p.E179E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GCATTTGCTTCTCTGTGAAAA	0.532																																					p.E97E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G291A	18						.						84.0	71.0	75.0					18																	690630		2203	4300	6503	680630	SO:0001630	splice_region_variant	55556	exon7			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.536-1G>A	18.37:g.690630C>T		Somatic		Capture	Illumina HiSeq	Phase_I	680630	NM_001126123	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	ENST00000251101.7	37	CCDS11822.1																																																																																				0.532	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512	Silent
DSEL	92126	broad.mit.edu	37	18	65181272	65181272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:65181272G>A	ENST00000310045.7	-	2	2077	c.604C>T	c.(604-606)Cga>Tga	p.R202*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	192					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.R202*(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTGTCTTCGATGATTATCT	0.403																																					p.R202X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C604T	18						.						47.0	48.0	47.0					18																	65181272		2203	4300	6503	63332252	SO:0001587	stop_gained	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.604C>T	18.37:g.65181272G>A	ENSP00000310565:p.Arg202*	Somatic		Capture	Illumina HiSeq	Phase_I	63332252	NM_032160	Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	46	12.660017	0.99686	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	4.53	2.35	0.29111	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0939	0.48132	0.0:0.0:0.3756:0.6244	.	.	.	.	X	202;192	.	ENSP00000310565:R202X	R	-	1	2	DSEL	63332252	0.937000	0.31787	0.992000	0.48379	0.811000	0.45836	1.481000	0.35476	1.038000	0.40049	-0.320000	0.08662	CGA		0.403	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
ZNF407	55628	broad.mit.edu	37	18	72601876	72601876	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:72601876G>T	ENST00000299687.5	+	6	5131	c.5131G>T	c.(5131-5133)Gaa>Taa	p.E1711*	ZNF407_ENST00000577538.1_Nonsense_Mutation_p.E1711*|ZNF407_ENST00000584235.1_3'UTR	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1711*(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TATTACAGGAGAAAAACCTTT	0.358																																					p.E1711X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5131T	18						.						50.0	49.0	49.0					18																	72601876		1888	4120	6008	70730864	SO:0001587	stop_gained	55628	exon6			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5131G>T	18.37:g.72601876G>T	ENSP00000299687:p.Glu1711*	Somatic		Capture	Illumina HiSeq	Phase_I	70730864	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Nonsense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	46	12.220673	0.99647	.	.	ENSG00000215421	ENST00000299687	.	.	.	5.82	5.82	0.92795	.	0.187638	0.32147	N	0.006505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2756	0.90081	0.0:0.0:1.0:0.0	.	.	.	.	X	1711	.	ENSP00000299687:E1711X	E	+	1	0	ZNF407	70730864	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.435000	0.97529	2.233000	0.73108	0.528000	0.53228	GAA		0.358	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72775410	72775410	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:72775410C>A	ENST00000299687.5	+	8	5733	c.5733C>A	c.(5731-5733)gtC>gtA	p.V1911V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1911					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V1911V(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATGGCCAGGTCATCGCCACGA	0.701																																					p.V1911V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5733A	18						.						13.0	16.0	15.0					18																	72775410		2177	4259	6436	70904398	SO:0001819	synonymous_variant	55628	exon8			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5733C>A	18.37:g.72775410C>A		Somatic		Capture	Illumina HiSeq	Phase_I	70904398	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				0.701	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF516	9658	broad.mit.edu	37	18	74092131	74092131	+	Missense_Mutation	SNP	C	C	T	rs538603150		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:74092131C>T	ENST00000443185.2	-	4	2256	c.1939G>A	c.(1939-1941)Gca>Aca	p.A647T	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	647					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.A647T(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACAGAAGCTGCGATCCCTGCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.001		0.0	False		,,,				2504	0.0				p.A647T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1939A	18						.						94.0	99.0	98.0					18																	74092131		1988	4171	6159	72221119	SO:0001583	missense	9658	exon4			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1939G>A	18.37:g.74092131C>T	ENSP00000394757:p.Ala647Thr	Somatic		Capture	Illumina HiSeq	Phase_I	72221119	NM_014643		Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	C	5.807	0.333202	0.11013	.	.	ENSG00000101493	ENST00000443185	T	0.09538	2.97	4.18	-1.14	0.09741	.	0.609985	0.14670	N	0.305432	T	0.04092	0.0114	.	.	.	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.43065	-0.9414	9	0.14252	T	0.57	-40.2415	3.6639	0.08249	0.1167:0.2734:0.4478:0.1621	.	647	Q92618	ZN516_HUMAN	T	647	ENSP00000394757:A647T	ENSP00000394757:A647T	A	-	1	0	ZNF516	72221119	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.299000	0.08254	-0.168000	0.10853	-0.182000	0.12963	GCA		0.512	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
ADCYAP1	116	broad.mit.edu	37	18	908273	908273	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:908273G>A	ENST00000579794.1	+	3	528	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.A84T|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	84					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.A84T(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TAGAGATGTCGCCCACGGGAT	0.672																																					p.A84T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	18						.						23.0	23.0	23.0					18																	908273		2203	4298	6501	898273	SO:0001583	missense	116	exon4			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.250G>A	18.37:g.908273G>A	ENSP00000462647:p.Ala84Thr	Somatic		Capture	Illumina HiSeq	Phase_I	898273	NM_001099733	B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501232	0.44455	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.27	2.42	0.29668	Glucagon/GIP/secretin/VIP (2);	0.214010	0.47852	D	0.000220	T	0.52517	0.1739	M	0.79805	2.47	0.42812	D	0.993968	P	0.41784	0.762	B	0.34093	0.175	T	0.60193	-0.7311	9	0.59425	D	0.04	.	9.2133	0.37331	0.0847:0.1499:0.7654:0.0	.	84	P18509	PACA_HUMAN	T	223;84;84	.	ENSP00000269200:A84T	A	+	1	0	ADCYAP1	898273	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	4.423000	0.59861	1.087000	0.41251	0.563000	0.77884	GCC		0.672	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117	
PTPRM	5797	broad.mit.edu	37	18	8113585	8113585	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:8113585C>A	ENST00000332175.8	+	12	2995	c.1958C>A	c.(1957-1959)tCt>tAt	p.S653Y	PTPRM_ENST00000400060.4_Missense_Mutation_p.S653Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.S653Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.S591Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.S440Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	653	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S653Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGAATGCTTCTCTGCTGAAC	0.418																																					p.S653Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1958A	18						.						114.0	107.0	109.0					18																	8113585		2203	4300	6503	8103585	SO:0001583	missense	5797	exon12			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1958C>A	18.37:g.8113585C>A	ENSP00000331418:p.Ser653Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8103585	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581317	0.46006	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.51817	1.01;0.99;0.84;0.69	5.84	5.84	0.93424	Fibronectin, type III (1);	0.062036	0.64402	D	0.000002	T	0.63236	0.2494	M	0.66939	2.045	0.54753	D	0.999987	P;P;P	0.47350	0.806;0.894;0.894	P;P;P	0.52710	0.707;0.467;0.467	T	0.63528	-0.6617	10	0.62326	D	0.03	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	440;653;653	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	653;653;591;440	ENSP00000331418:S653Y;ENSP00000382933:S653Y;ENSP00000382927:S591Y;ENSP00000387608:S440Y	ENSP00000331418:S653Y	S	+	2	0	PTPRM	8103585	1.000000	0.71417	0.035000	0.18076	0.262000	0.26303	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	TCT		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
ANKRD12	23253	broad.mit.edu	37	18	9255953	9255953	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:9255953A>C	ENST00000262126.4	+	9	2928	c.2688A>C	c.(2686-2688)aaA>aaC	p.K896N	ANKRD12_ENST00000383440.2_Missense_Mutation_p.K873N|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K873N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	896						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K896N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTATTAAAAAAACTGACGACA	0.353																																					p.K896N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2688C	18						.						40.0	42.0	41.0					18																	9255953		2197	4290	6487	9245953	SO:0001583	missense	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2688A>C	18.37:g.9255953A>C	ENSP00000262126:p.Lys896Asn	Somatic		Capture	Illumina HiSeq	Phase_I	9245953	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147189	0.37923	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.38560	1.13;1.13	5.55	1.67	0.24075	.	0.096025	0.64402	D	0.000001	T	0.39358	0.1075	M	0.66939	2.045	0.34533	D	0.709406	B;B	0.29590	0.25;0.162	B;B	0.30782	0.12;0.056	T	0.50423	-0.8830	10	0.52906	T	0.07	-12.2989	9.6844	0.40089	0.7279:0.0:0.2721:0.0	.	873;896	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	N	873;896	ENSP00000372932:K873N;ENSP00000262126:K896N	ENSP00000262126:K896N	K	+	3	2	ANKRD12	9245953	0.979000	0.34478	0.472000	0.27241	0.988000	0.76386	2.371000	0.44248	0.366000	0.24427	0.455000	0.32223	AAA		0.353	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
TXNDC2	84203	broad.mit.edu	37	18	9886891	9886891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:9886891G>T	ENST00000306084.6	+	2	614	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	TXNDC2_ENST00000536353.2_Nonsense_Mutation_p.E72*|TXNDC2_ENST00000357775.5_Nonsense_Mutation_p.E72*|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	139	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E72*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAAGTCCTCAGAAAAAGCCAT	0.542																																					p.E139X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G415T	18						.						130.0	128.0	129.0					18																	9886891		2203	4300	6503	9876891	SO:0001587	stop_gained	84203	exon2			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.415G>T	18.37:g.9886891G>T	ENSP00000304908:p.Glu139*	Somatic		Capture	Illumina HiSeq	Phase_I	9876891	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Nonsense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	15.99	2.994328	0.54041	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	.	.	.	3.49	0.538	0.17150	.	2.526890	0.02074	N	0.051759	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3315	0.11066	0.2241:0.3661:0.4098:0.0	.	.	.	.	X	72;72;139;139	.	.	E	+	1	0	TXNDC2	9876891	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.170000	0.09897	-0.003000	0.14444	-0.362000	0.07510	GAA		0.542	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
TXNDC2	84203	broad.mit.edu	37	18	9888028	9888028	+	Missense_Mutation	SNP	G	G	A	rs141140850		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:9888028G>A	ENST00000306084.6	+	2	1751	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.A451T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	518	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.A451T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAGAGAGTGCGCCATCATGTG	0.483																																					p.A518T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1552A	18						.	G	THR/ALA,THR/ALA	1,4405		0,1,2202	88.0	77.0	81.0		1552,1351	2.2	0.0	18	dbSNP_134	81	0,8600		0,0,4300	yes	missense,missense	TXNDC2	NM_001098529.1,NM_032243.5	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	518/554,451/487	9888028	1,13005	2203	4300	6503	9878028	SO:0001583	missense	84203	exon2			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1552G>A	18.37:g.9888028G>A	ENSP00000304908:p.Ala518Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9878028	NM_001098529	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559599	0.27827	2.27E-4	0.0	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.13538	2.58;2.58	4.05	2.21	0.28008	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.656016	0.15551	N	0.256395	T	0.12135	0.0295	L	0.31476	0.935	0.09310	N	1	D	0.57571	0.98	P	0.48901	0.594	T	0.13710	-1.0499	9	.	.	.	-1.7508	6.1083	0.20086	0.2376:0.0:0.7624:0.0	.	518	Q86VQ3	TXND2_HUMAN	T	316;451;518;503	ENSP00000350419:A451T;ENSP00000304908:A518T	.	A	+	1	0	TXNDC2	9878028	0.017000	0.18338	0.000000	0.03702	0.005000	0.04900	1.928000	0.40104	0.633000	0.30452	0.650000	0.86243	GCC		0.483	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
ATP9B	374868	broad.mit.edu	37	18	76973981	76973981	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr18:76973981C>A	ENST00000426216.2	+	11	1067	c.1050C>A	c.(1048-1050)gtC>gtA	p.V350V	ATP9B_ENST00000307671.7_Silent_p.V350V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	350					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V350V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TAGGTGTTGTCATTTATACCG	0.318																																					p.V350V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050A	18						.						145.0	138.0	140.0					18																	76973981		2203	4300	6503	75074969	SO:0001819	synonymous_variant	374868	exon11			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1050C>A	18.37:g.76973981C>A		Somatic		Capture	Illumina HiSeq	Phase_I	75074969	NM_198531	O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	CCDS12014.1																																																																																				0.318	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
ZNF302	55900	broad.mit.edu	37	19	35174127	35174128	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:35174127_35174128insA	ENST00000446502.2	+	5	538_539	c.330_331insA	c.(331-333)aaafs	p.K111fs	ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000507959.1_Frame_Shift_Ins_p.K68fs|ZNF302_ENST00000505242.1_Frame_Shift_Ins_p.K67fs|ZNF302_ENST00000505365.2_Frame_Shift_Ins_p.K67fs|ZNF302_ENST00000457781.2_Frame_Shift_Ins_p.K67fs|ZNF302_ENST00000423823.2_Frame_Shift_Ins_p.K67fs			Q9NR11	ZN302_HUMAN	zinc finger protein 302	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L69fs*22(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATGATGGAGAAAAAACTGTC	0.376																																					p.E66fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.198_199insA	19						.																																			39865968	SO:0001589	frameshift_variant	55900	exon4			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.336dupA	19.37:g.35174133_35174133dupA	ENSP00000396379:p.Lys111fs	Somatic		Capture	Illumina HiSeq	Phase_I	39865967	NM_001012320	Q658J3|Q9BZD8|Q9P0J4	Frame_Shift_Ins	INS	ENST00000446502.2	37																																																																																					0.376	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1		
SIGLEC14	100049587	broad.mit.edu	37	19	52146845	52146846	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52146845_52146846insA	ENST00000360844.6	-	6	1133_1134	c.1092_1093insT	c.(1090-1095)gctctcfs	p.L365fs	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	365					cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L365fs*29(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCCCCCATGAGAGCCCCCCTGA	0.579																																					p.L365fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1093_1094insT	19						.																																			56838658	SO:0001589	frameshift_variant	100049587	exon6			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.1093dupT	19.37:g.52146846_52146846dupA	ENSP00000354090:p.Leu365fs	Somatic		Capture	Illumina HiSeq	Phase_I	56838657	NM_001098612	Q6UXG0	Frame_Shift_Ins	INS	ENST00000360844.6	37	CCDS42604.1																																																																																				0.579	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612	
S1PR5	53637	broad.mit.edu	37	19	10625529	10625529	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:10625529C>A	ENST00000439028.3	-	2	284	c.159G>T	c.(157-159)gaG>gaT	p.E53D	S1PR5_ENST00000333430.4_Missense_Mutation_p.E53D	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	53					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.E53D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CGGCTAGATTCTCTAGCACGA	0.682																																					p.E53D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G159T	19						.						38.0	31.0	33.0					19																	10625529		2189	4296	6485	10486529	SO:0001583	missense	53637	exon2			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.159G>T	19.37:g.10625529C>A	ENSP00000416915:p.Glu53Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10486529	NM_030760	Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.729304	0.48833	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.37584	1.19;1.19	4.37	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.61540	0.2355	M	0.91972	3.26	0.36365	D	0.860962	D	0.71674	0.998	D	0.70227	0.968	T	0.71269	-0.4643	10	0.72032	D	0.01	.	8.2361	0.31627	0.0:0.7322:0.0:0.2678	.	53	Q9H228	S1PR5_HUMAN	D	53	ENSP00000416915:E53D;ENSP00000328472:E53D	ENSP00000328472:E53D	E	-	3	2	S1PR5	10486529	1.000000	0.71417	0.911000	0.35937	0.005000	0.04900	3.098000	0.50259	1.047000	0.40274	-0.382000	0.06688	GAG		0.682	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760	
SMARCA4	6597	broad.mit.edu	37	19	11100016	11100016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11100016G>A	ENST00000429416.3	+	8	1423	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R381Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R381Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R381Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R381Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R381Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R381Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R381Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R381Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	381					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R381Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCGCACACCGAATTCAGGAA	0.607			"""F, N, Mis"""		NSCLC																																p.R381Q			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	.	3	Substitution - Missense(2)|Unknown(1)	large_intestine(2)|lung(1)	c.G1142A	19						.						88.0	90.0	89.0					19																	11100016		2203	4300	6503	10961016	SO:0001583	missense	6597	exon7			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1142G>A	19.37:g.11100016G>A	ENSP00000395654:p.Arg381Gln	Somatic		Capture	Illumina HiSeq	Phase_I	10961016	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306031	0.95629	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.09;-3.08;-3.08;-3.09	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000001	D	0.96153	0.8746	M	0.85542	2.76	0.54753	D	0.999984	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997;0.999;0.999	D	0.96891	0.9653	10	0.87932	D	0	-8.8962	15.4489	0.75257	0.0:0.0:1.0:0.0	.	381;381;381;381;381;381;381	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	381	ENSP00000395654:R381Q;ENSP00000350720:R381Q;ENSP00000343896:R381Q;ENSP00000445036:R381Q;ENSP00000392837:R381Q;ENSP00000397783:R381Q;ENSP00000414727:R381Q	ENSP00000343896:R381Q	R	+	2	0	SMARCA4	10961016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.657000	0.98554	2.188000	0.69820	0.462000	0.41574	CGA		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
LDLR	3949	broad.mit.edu	37	19	11224056	11224056	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11224056T>C	ENST00000558518.1	+	9	1476	c.1289T>C	c.(1288-1290)gTc>gCc	p.V430A	LDLR_ENST00000558013.1_Missense_Mutation_p.V430A|LDLR_ENST00000455727.2_Missense_Mutation_p.V262A|LDLR_ENST00000545707.1_Missense_Mutation_p.V303A|LDLR_ENST00000535915.1_Missense_Mutation_p.V389A|LDLR_ENST00000557933.1_Missense_Mutation_p.V430A	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	430					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.V430A(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGGAACGTGGTCGCTCTGGAC	0.602																																					p.V309A	GBM(18;201 575 7820 21545)											.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|lung(1)	c.T926C	19						.						80.0	68.0	72.0					19																	11224056		2203	4300	6503	11085056	SO:0001583	missense	3949	exon8			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1289T>C	19.37:g.11224056T>C	ENSP00000454071:p.Val430Ala	Somatic		Capture	Illumina HiSeq	Phase_I	11085056	NM_001195802	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287716	0.80803	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.91068	-2.78;-2.78;-2.78	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.51477	D	0.000084	D	0.95056	0.8399	M	0.85630	2.765	0.80722	D	1	P;B;P;P;P;P	0.45474	0.859;0.166;0.766;0.559;0.766;0.648	P;B;P;P;P;P	0.61658	0.892;0.296;0.804;0.529;0.804;0.804	D	0.95667	0.8720	10	0.87932	D	0	.	13.4637	0.61241	0.0:0.0:0.0:1.0	.	262;303;309;389;442;430	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	A	430;303;389;262	ENSP00000437639:V303A;ENSP00000440520:V389A;ENSP00000397829:V262A	ENSP00000252444:V430A	V	+	2	0	LDLR	11085056	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	3.821000	0.55700	1.837000	0.53436	0.454000	0.30748	GTC		0.602	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
ELAVL3	1995	broad.mit.edu	37	19	11565374	11565374	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11565374G>T	ENST00000359227.3	-	7	1495	c.1071C>A	c.(1069-1071)gtC>gtA	p.V357V	ELAVL3_ENST00000438662.2_Silent_p.V350V	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	357	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.V357V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCTTGAAGGAGACCTGCAGCA	0.637																																					p.V357V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1071A	19						.						51.0	42.0	45.0					19																	11565374		2203	4299	6502	11426374	SO:0001819	synonymous_variant	1995	exon7				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.1071C>A	19.37:g.11565374G>T		Somatic		Capture	Illumina HiSeq	Phase_I	11426374	NM_001420	Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	CCDS32912.1																																																																																				0.637	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420	
ACP5	54	broad.mit.edu	37	19	11687966	11687966	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11687966C>T	ENST00000592828.1	-	4	569	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.R56Q|ACP5_ENST00000218758.5_Missense_Mutation_p.R56Q|ACP5_ENST00000412435.2_Missense_Mutation_p.R56Q	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	56					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.R56Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGCACAGTCCGAGCGATCTC	0.567																																					p.R56Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	19						.						85.0	80.0	81.0					19																	11687966		2203	4300	6503	11548966	SO:0001583	missense	54	exon3			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.167G>A	19.37:g.11687966C>T	ENSP00000468767:p.Arg56Gln	Somatic		Capture	Illumina HiSeq	Phase_I	11548966	NM_001111036	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	c	13.24	2.177671	0.38413	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.69435	-0.4;-0.4;-0.4	5.02	2.9	0.33743	Metallophosphoesterase domain (1);	0.247917	0.45606	D	0.000353	T	0.53286	0.1787	L	0.48877	1.53	0.33496	D	0.589251	B	0.23316	0.083	B	0.17433	0.018	T	0.54316	-0.8312	10	0.22706	T	0.39	-11.0039	7.8133	0.29243	0.0:0.737:0.0:0.263	.	56	P13686	PPA5_HUMAN	Q	56	ENSP00000218758:R56Q;ENSP00000392374:R56Q;ENSP00000413456:R56Q	ENSP00000218758:R56Q	R	-	2	0	ACP5	11548966	0.005000	0.15991	0.014000	0.15608	0.581000	0.36288	0.779000	0.26746	0.534000	0.28695	0.561000	0.74099	CGG		0.567	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1		
ZNF627	199692	broad.mit.edu	37	19	11728546	11728546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11728546G>T	ENST00000361113.5	+	4	1436	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	410					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.E410*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCGAATCCATGAAAGAACTCA	0.398																																					p.E410X	Melanoma(112;173 1614 10731 17751 23322)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1228T	19						.						44.0	48.0	47.0					19																	11728546		2203	4299	6502	11589546	SO:0001587	stop_gained	199692	exon4			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1228G>T	19.37:g.11728546G>T	ENSP00000354414:p.Glu410*	Somatic		Capture	Illumina HiSeq	Phase_I	11589546	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	36	5.833159	0.97003	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.5	-0.972	0.10300	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999865	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	2.1042	0.03687	0.3547:0.0:0.3953:0.25	.	.	.	.	X	410	.	ENSP00000354414:E410X	E	+	1	0	ZNF627	11589546	0.000000	0.05858	0.001000	0.08648	0.971000	0.66376	-1.923000	0.01567	-0.160000	0.11002	0.467000	0.42956	GAA		0.398	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
ZNF491	126069	broad.mit.edu	37	19	11917796	11917796	+	Missense_Mutation	SNP	G	G	A	rs368005368		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11917796G>A	ENST00000323169.5	+	3	1359	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	343					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.R343Q(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGTACATTCGAATACATGGA	0.433																																					p.R343Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1028A	19						.						63.0	64.0	64.0					19																	11917796		2203	4300	6503	11778796	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1028G>A	19.37:g.11917796G>A	ENSP00000313443:p.Arg343Gln	Somatic		Capture	Illumina HiSeq	Phase_I	11778796	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.677593	0.00751	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.15256	2.44	0.874	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.16201	0.385	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39272	-0.9622	9	0.17832	T	0.49	.	4.4157	0.11455	0.4713:0.2738:0.2549:0.0	.	343	Q8N8L2	ZN491_HUMAN	Q	343;315	ENSP00000313443:R343Q	ENSP00000313443:R343Q	R	+	2	0	ZNF491	11778796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.432000	0.01022	-1.558000	0.01690	-1.386000	0.01163	CGA		0.433	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF491	126069	broad.mit.edu	37	19	11917976	11917976	+	Missense_Mutation	SNP	G	G	T	rs566438546		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:11917976G>T	ENST00000323169.5	+	3	1539	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	403					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.R403I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATACATGAAAGAATTCACACT	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19508	0.0		0.0	False		,,,				2504	0.0				p.R403I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1208T	19						.						39.0	43.0	42.0					19																	11917976		2202	4300	6502	11778976	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1208G>T	19.37:g.11917976G>T	ENSP00000313443:p.Arg403Ile	Somatic		Capture	Illumina HiSeq	Phase_I	11778976	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	11.28	1.592547	0.28357	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.24908	1.83	0.816	-0.358	0.12575	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32436	0.0829	L	0.53671	1.685	0.09310	N	1	D	0.56287	0.975	P	0.54460	0.753	T	0.16600	-1.0397	9	0.62326	D	0.03	.	6.3295	0.21262	0.1965:0.0:0.8035:0.0	.	403	Q8N8L2	ZN491_HUMAN	I	403;375	ENSP00000313443:R403I	ENSP00000313443:R403I	R	+	2	0	ZNF491	11778976	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	-0.029000	0.12329	-0.054000	0.13266	0.498000	0.49722	AGA		0.368	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF763	284390	broad.mit.edu	37	19	12089902	12089902	+	Missense_Mutation	SNP	C	C	T	rs376889281		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12089902C>T	ENST00000358987.3	+	4	1290	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	ZNF763_ENST00000545530.1_Missense_Mutation_p.A266V|ZNF763_ENST00000538752.1_Missense_Mutation_p.A408V|ZNF763_ENST00000343949.5_Missense_Mutation_p.A391V|ZNF763_ENST00000590798.1_Missense_Mutation_p.A408V			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A390V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCTAAGAATGCGCTCTGGAGA	0.393																																					p.A391V												ZNF440L,central_nervous_system,brain,Substitution - coding silent,-1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1172T	19						.	C	VAL/ALA	0,4384		0,0,2192	60.0	66.0	64.0		1172	-2.0	0.0	19		64	1,8591	1.2+/-3.3	0,1,4295	no	missense	ZNF763	NM_001012753.1	64	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077		391/398	12089902	1,12975	2192	4296	6488	11950902	SO:0001583	missense	284390	exon4			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1163C>T	19.37:g.12089902C>T	ENSP00000402017:p.Ala388Val	Somatic		Capture	Illumina HiSeq	Phase_I	11950902	NM_001012753	B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	c	7.297	0.612296	0.14066	0.0	1.16E-4	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.06371	3.43;3.41;3.31;3.41	1.35	-2.04	0.07343	.	.	.	.	.	T	0.04182	0.0116	N	0.19112	0.55	0.09310	N	1	B;D;B	0.57571	0.025;0.98;0.025	B;B;B	0.41374	0.002;0.355;0.002	T	0.39375	-0.9617	9	0.59425	D	0.04	.	8.523	0.33287	0.2964:0.7036:0.0:0.0	.	408;388;391	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	V	408;391;266;388	ENSP00000438117:A408V;ENSP00000369774:A391V;ENSP00000446166:A266V;ENSP00000402017:A388V	ENSP00000369774:A391V	A	+	2	0	ZNF763	11950902	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.596000	0.24044	-0.639000	0.05502	-2.771000	0.00119	GCG		0.393	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753	
ZNF878	729747	broad.mit.edu	37	19	12155013	12155013	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12155013C>A	ENST00000547628.1	-	4	1340	c.1203G>T	c.(1201-1203)ggG>ggT	p.G401G	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Silent_p.G448G|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGAAGGCTTTCCCACATTGCT	0.418																																					p.G448G												.	.	0			c.G1344T	19						.						71.0	74.0	73.0					19																	12155013		2202	4300	6502	12016013	SO:0001819	synonymous_variant	729747	exon5				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1203G>T	19.37:g.12155013C>A		Somatic		Capture	Illumina HiSeq	Phase_I	12016013	NM_001080404		Silent	SNP	ENST00000547628.1	37	CCDS45984.2																																																																																				0.418	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
ZNF20	7568	broad.mit.edu	37	19	12243424	12243424	+	Missense_Mutation	SNP	C	C	T	rs199558657		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12243424C>T	ENST00000334213.5	-	4	1801	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	526					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.E526K(1)		endometrium(1)|kidney(1)|lung(6)	8						GGTATGAGTTCTTTCATGTTC	0.413																																					p.R526K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1577A	19						.						141.0	151.0	148.0					19																	12243424		2149	4274	6423	12104424	SO:0001583	missense	7568	exon4			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1577G>A	19.37:g.12243424C>T	ENSP00000335437:p.Arg526Lys	Somatic		Capture	Illumina HiSeq	Phase_I	12104424	NM_021143	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.586183|2.586183	0.46110|0.46110	.|.	.|.	ENSG00000132010|ENSG00000132010	ENST00000292241|ENST00000334213	.|T	.|0.01838	.|4.61	0.94|0.94	0.94|0.94	0.19513|0.19513	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.02455|0.02455	0.0075|0.0075	L|L	0.49256|0.49256	1.55|1.55	0.21652|0.21652	N|N	0.999606|0.999606	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.43212|0.43212	-0.9405|-0.9405	6|8	0.48119|.	T|.	0.1|.	.|.	5.2006|5.2006	0.15262|0.15262	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|526	.|P17024	.|ZNF20_HUMAN	K|K	526|526	.|ENSP00000335437:R526K	ENSP00000292241:E526K|.	E|R	-|-	1|2	0|0	ZNF20|ZNF20	12104424|12104424	0.000000|0.000000	0.05858|0.05858	0.087000|0.087000	0.20705|0.20705	0.763000|0.763000	0.43281|0.43281	0.059000|0.059000	0.14322|0.14322	0.783000|0.783000	0.33636|0.33636	0.313000|0.313000	0.20887|0.20887	GAA|AGA		0.413	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143	
ZNF20	7568	broad.mit.edu	37	19	12246636	12246636	+	Missense_Mutation	SNP	C	C	A	rs199866015	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12246636C>A	ENST00000334213.5	-	2	311	c.87G>T	c.(85-87)aaG>aaT	p.K29N	ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Missense_Mutation_p.K26N	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K29N(1)		endometrium(1)|kidney(1)|lung(6)	8						TGTAGAGATTCTTCTGGGAAG	0.443																																					p.K29N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G87T	19						.						100.0	101.0	101.0					19																	12246636		2203	4300	6503	12107636	SO:0001583	missense	7568	exon2			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.87G>T	19.37:g.12246636C>A	ENSP00000335437:p.Lys29Asn	Somatic		Capture	Illumina HiSeq	Phase_I	12107636	NM_021143	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241195	0.39598	.	.	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.02944	4.1;4.1	0.94	0.94	0.19513	Krueppel-associated box (4);	.	.	.	.	T	0.17577	0.0422	H	0.96015	3.755	0.21499	N	0.999663	D	0.69078	0.997	D	0.65987	0.94	T	0.04216	-1.0968	9	0.66056	D	0.02	.	5.2006	0.15262	0.0:1.0:0.0:0.0	.	29	P17024	ZNF20_HUMAN	N	29;29;26	ENSP00000335437:K29N;ENSP00000390115:K26N	ENSP00000292241:K29N	K	-	3	2	ZNF20	12107636	0.723000	0.28027	0.255000	0.24374	0.173000	0.22820	0.571000	0.23669	0.783000	0.33636	0.313000	0.20887	AAG		0.443	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143	
ZNF625	90589	broad.mit.edu	37	19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12256527C>T	ENST00000355738.1	-	4	855	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.R169Q|ZNF625_ENST00000439556.2_Missense_Mutation_p.R235Q|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	169					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.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408																																					p.R169Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G506A	19						.						134.0	122.0	126.0					19																	12256527		2203	4300	6503	12117527	SO:0001583	missense	90589	exon4			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.506G>A	19.37:g.12256527C>T	ENSP00000347977:p.Arg169Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12117527	NM_145233	A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	C	7.205	0.594292	0.13875	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07444	3.19;3.19;3.19	0.856	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.20986	0.625	0.09310	N	1	B;B	0.34329	0.192;0.449	B;B	0.26614	0.001;0.071	T	0.44112	-0.9349	9	0.20519	T	0.43	.	5.913	0.19039	0.0:0.6765:0.0:0.3235	.	169;169	A8K8U0;Q96I27	.;ZN625_HUMAN	Q	169;169;235	ENSP00000438436:R169Q;ENSP00000347977:R169Q;ENSP00000394380:R235Q	ENSP00000347977:R169Q	R	-	2	0	AC022415.5	12117527	0.000000	0.05858	0.017000	0.16124	0.828000	0.46876	-2.546000	0.00932	-0.603000	0.05767	0.313000	0.20887	CGA		0.408	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
ZNF709	163051	broad.mit.edu	37	19	12574925	12574925	+	Missense_Mutation	SNP	C	C	T	rs202113977	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12574925C>T	ENST00000397732.3	-	4	1982	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R604Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	604					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.R604Q(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGGATTCGAAAGGAACG	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		21926	0.002		0.0	False		,,,				2504	0.0				p.R604Q	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1811A	19						.						139.0	148.0	145.0					19																	12574925		2203	4300	6503	12435925	SO:0001583	missense	163051	exon4			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.1811G>A	19.37:g.12574925C>T	ENSP00000380840:p.Arg604Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12435925	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	6.322	0.427556	0.11987	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.04275	3.66;3.66	2.89	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02533	0.0077	N	0.20574	0.59	0.09310	N	1	B	0.28667	0.219	B	0.17098	0.017	T	0.48581	-0.9023	9	0.10902	T	0.67	.	7.4814	0.27406	0.0:0.436:0.0:0.564	.	604	Q8N972	ZN709_HUMAN	Q	604	ENSP00000380840:R604Q;ENSP00000404127:R604Q	ENSP00000404127:R604Q	R	-	2	0	ZNF709;CTD-2192J16.17	12435925	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-4.914000	0.00170	-0.208000	0.10171	0.655000	0.94253	CGA		0.423	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF709	163051	broad.mit.edu	37	19	12575501	12575501	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12575501C>A	ENST00000397732.3	-	4	1406	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	412					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.R412I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCTTTCATGCAT	0.418																																					p.R412I	GBM(33;565 669 12371 29134 51667)											.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G1235T	19						.						105.0	109.0	108.0					19																	12575501		2201	4299	6500	12436501	SO:0001583	missense	163051	exon4			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.1235G>T	19.37:g.12575501C>A	ENSP00000380840:p.Arg412Ile	Somatic		Capture	Illumina HiSeq	Phase_I	12436501	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267803	0.40095	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24908	1.83;1.83	3.05	0.858	0.19030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002044	T	0.29716	0.0742	M	0.87971	2.92	0.41667	D	0.989214	B	0.29646	0.253	B	0.23018	0.043	T	0.21381	-1.0247	10	0.72032	D	0.01	.	8.6789	0.34196	0.0:0.7924:0.0:0.2076	.	412	Q8N972	ZN709_HUMAN	I	412	ENSP00000380840:R412I;ENSP00000404127:R412I	ENSP00000404127:R412I	R	-	2	0	ZNF709;CTD-2192J16.17	12436501	0.000000	0.05858	0.293000	0.24932	0.963000	0.63663	-1.379000	0.02554	0.337000	0.23665	0.591000	0.81541	AGA		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF709	163051	broad.mit.edu	37	19	12576325	12576325	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12576325C>A	ENST00000397732.3	-	4	582	c.411G>T	c.(409-411)gaG>gaT	p.E137D	ZNF709_ENST00000428311.1_Missense_Mutation_p.E137D|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	137					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.E137D(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						CATATGATTTCTCTCCATATT	0.348																																					p.E137D	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G411T	19						.						89.0	91.0	90.0					19																	12576325		2146	4269	6415	12437325	SO:0001583	missense	163051	exon4			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.411G>T	19.37:g.12576325C>A	ENSP00000380840:p.Glu137Asp	Somatic		Capture	Illumina HiSeq	Phase_I	12437325	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945793	0.34377	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.26810	1.71;1.71	2.75	1.71	0.24356	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.501906	0.14899	N	0.291937	T	0.25791	0.0628	M	0.75085	2.285	0.18873	N	0.999983	B	0.12013	0.005	B	0.14023	0.01	T	0.29941	-0.9995	10	0.66056	D	0.02	.	4.502	0.11869	0.0:0.5838:0.0:0.4162	.	137	Q8N972	ZN709_HUMAN	D	137	ENSP00000380840:E137D;ENSP00000404127:E137D	ENSP00000404127:E137D	E	-	3	2	ZNF709;CTD-2192J16.17	12437325	0.950000	0.32346	0.026000	0.17262	0.298000	0.27526	1.201000	0.32259	0.740000	0.32651	0.313000	0.20887	GAG		0.348	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF791	163049	broad.mit.edu	37	19	12739307	12739307	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12739307C>A	ENST00000343325.4	+	4	1126	c.964C>A	c.(964-966)Cat>Aat	p.H322N	ZNF791_ENST00000458122.3_Missense_Mutation_p.H290N|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.H213N|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	322					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.H322N(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGAAAGAATTCATACTGGAGA	0.408																																					p.H322N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C964A	19						.						44.0	49.0	47.0					19																	12739307		2202	4300	6502	12600307	SO:0001583	missense	163049	exon4			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.964C>A	19.37:g.12739307C>A	ENSP00000342974:p.His322Asn	Somatic		Capture	Illumina HiSeq	Phase_I	12600307	NM_153358	B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342939	0.61073	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.67345	-0.26;-0.26;-0.26	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83487	0.5265	M	0.93197	3.39	0.38260	D	0.941845	D	0.89917	1.0	D	0.97110	1.0	D	0.85795	0.1370	9	0.72032	D	0.01	.	9.2247	0.37398	0.0:1.0:0.0:0.0	.	322	Q3KP31	ZN791_HUMAN	N	322;304;290;213	ENSP00000342974:H322N;ENSP00000441761:H290N;ENSP00000441038:H213N	ENSP00000342974:H322N	H	+	1	0	ZNF791	12600307	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.654000	0.74387	1.007000	0.39238	0.491000	0.48974	CAT		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358	
BEST2	54831	broad.mit.edu	37	19	12868540	12868540	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12868540C>A	ENST00000549706.1	+	10	1503	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	BEST2_ENST00000553030.1_Missense_Mutation_p.F393L|BEST2_ENST00000042931.1_Missense_Mutation_p.F393L			Q8NFU1	BEST2_HUMAN	bestrophin 2	393					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.F393L(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CCGGCGACTTCCTGCAGCGCC	0.706																																					p.F393L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1179A	19						.						5.0	7.0	6.0					19																	12868540		1697	3729	5426	12729540	SO:0001583	missense	54831	exon9			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1179C>A	19.37:g.12868540C>A	ENSP00000448310:p.Phe393Leu	Somatic		Capture	Illumina HiSeq	Phase_I	12729540	NM_017682	Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303129	0.23736	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.97404	-4.37;-4.37;-4.37	4.97	-0.0202	0.13957	.	0.230559	0.28403	N	0.015467	D	0.88303	0.6400	N	0.11789	0.175	0.26691	N	0.971356	B	0.02656	0.0	B	0.01281	0.0	T	0.77587	-0.2532	10	0.07990	T	0.79	-16.2951	4.6318	0.12506	0.0:0.4639:0.1539:0.3822	.	393	Q8NFU1	BEST2_HUMAN	L	393	ENSP00000448310:F393L;ENSP00000447203:F393L;ENSP00000042931:F393L	ENSP00000042931:F393L	F	+	3	2	BEST2	12729540	0.120000	0.22244	0.995000	0.50966	0.692000	0.40212	0.857000	0.27831	0.109000	0.17891	0.313000	0.20887	TTC		0.706	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682	
RTBDN	83546	broad.mit.edu	37	19	12936536	12936536	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:12936536C>T	ENST00000458671.2	-	6	826	c.674G>A	c.(673-675)aGc>aAc	p.S225N	CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Missense_Mutation_p.S235N|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000322912.5_Missense_Mutation_p.S257N|RTBDN_ENST00000393233.2_3'UTR	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	225						extracellular region (GO:0005576)		p.S257N(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GCCGCTGCCGCTTCCACTGCC	0.736											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S257N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G770A	19						.						6.0	6.0	6.0					19																	12936536		2141	4162	6303	12797536	SO:0001583	missense	83546	exon7			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.674G>A	19.37:g.12936536C>T	ENSP00000416375:p.Ser225Asn	Somatic	683	Capture	Illumina HiSeq	Phase_I	12797536	NM_031429	F1T0I8|Q9BWT5	Missense_Mutation	SNP	ENST00000458671.2	37	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685858	0.47991	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.57595	0.39;0.48	4.45	4.45	0.53987	.	0.000000	0.51477	D	0.000082	T	0.60971	0.2310	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.64024	-0.6504	10	0.87932	D	0	-2.5036	12.7665	0.57394	0.0:1.0:0.0:0.0	.	257;225	Q9BSG5-2;Q9BSG5	.;RTBDN_HUMAN	N	257;225	ENSP00000326253:S257N;ENSP00000416375:S225N	ENSP00000326253:S257N	S	-	2	0	RTBDN	12797536	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	3.246000	0.51414	2.482000	0.83794	0.591000	0.81541	AGC		0.736	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429	
IL27RA	9466	broad.mit.edu	37	19	14157076	14157076	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:14157076G>A	ENST00000263379.2	+	7	1004	c.879G>A	c.(877-879)gcG>gcA	p.A293A		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	293					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.A293A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCAGTGGGGCGGAGTGGGCCA	0.577																																					p.A293A	Colon(164;1849 1896 4443 37792 47834)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G879A	19						.						151.0	155.0	154.0					19																	14157076		2203	4300	6503	14018076	SO:0001819	synonymous_variant	9466	exon7			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.879G>A	19.37:g.14157076G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14018076	NM_004843	A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	CCDS12303.1																																																																																				0.577	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	
EMR3	84658	broad.mit.edu	37	19	14772866	14772866	+	Silent	SNP	G	G	A	rs150826128		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:14772866G>A	ENST00000253673.5	-	4	364	c.264C>T	c.(262-264)gtC>gtT	p.V88V	EMR3_ENST00000443157.2_Intron|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	88	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V88V(4)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AACTTCCTTCGACATTGTAAC	0.393																																					p.V88V												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C264T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	197.0	165.0	176.0		264	-8.2	0.0	19	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	EMR3	NM_032571.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		88/653	14772866	1,13005	2203	4300	6503	14633866	SO:0001819	synonymous_variant	84658	exon4			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.264C>T	19.37:g.14772866G>A		Somatic		Capture	Illumina HiSeq	Phase_I	14633866	NM_032571		Silent	SNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.393	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
EMR2	30817	broad.mit.edu	37	19	14866535	14866535	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:14866535G>T	ENST00000315576.3	-	13	1798	c.1347C>A	c.(1345-1347)atC>atA	p.I449I	EMR2_ENST00000346057.1_Silent_p.I400I|EMR2_ENST00000594294.1_Silent_p.I400I|EMR2_ENST00000353005.1_Silent_p.I307I|EMR2_ENST00000595839.1_Silent_p.I307I|EMR2_ENST00000596991.2_Silent_p.I438I|EMR2_ENST00000601345.1_Silent_p.I438I|EMR2_ENST00000392965.3_Silent_p.I449I|EMR2_ENST00000392967.2_Silent_p.I438I|EMR2_ENST00000594076.1_Silent_p.I356I|EMR2_ENST00000353876.1_Silent_p.I356I|EMR2_ENST00000392964.3_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	449					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.I449I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAAAGGCAGAGATCACATCTG	0.572																																					p.I389I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167A	19						.						187.0	168.0	174.0					19																	14866535		2203	4300	6503	14727535	SO:0001819	synonymous_variant	30817	exon12			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1347C>A	19.37:g.14866535G>T		Somatic		Capture	Illumina HiSeq	Phase_I	14727535	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	CCDS32935.1																																																																																				0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
CASP14	23581	broad.mit.edu	37	19	15166318	15166318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15166318G>T	ENST00000427043.3	+	6	906	c.598G>T	c.(598-600)Gga>Tga	p.G200*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.G200*|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	200					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.G200*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GAAGAGGAAAGGACATATCTT	0.547																																					p.G200X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G598T	19						.						101.0	87.0	92.0					19																	15166318		2203	4300	6503	15027318	SO:0001587	stop_gained	23581	exon6				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.598G>T	19.37:g.15166318G>T	ENSP00000393417:p.Gly200*	Somatic		Capture	Illumina HiSeq	Phase_I	15027318	NM_012114	O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.087188	0.76642	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	4.48	3.42	0.39159	.	0.458287	0.20670	N	0.087855	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	7.7316	0.28789	0.1164:0.0:0.8836:0.0	.	.	.	.	X	200	.	ENSP00000221740:G200X	G	+	1	0	CASP14	15027318	0.899000	0.30636	0.149000	0.22428	0.004000	0.04260	2.070000	0.41491	2.187000	0.69744	0.448000	0.29417	GGA		0.547	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114	
OR1I1	126370	broad.mit.edu	37	19	15197903	15197903	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15197903C>A	ENST00000209540.2	+	1	113	c.27C>A	c.(25-27)atC>atA	p.I9I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I9I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						AAACCGAAATCTCAGAATTCT	0.473																																					p.I9I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C27A	19						.						114.0	113.0	113.0					19																	15197903		2203	4300	6503	15058903	SO:0001819	synonymous_variant	126370	exon1			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.27C>A	19.37:g.15197903C>A		Somatic		Capture	Illumina HiSeq	Phase_I	15058903	NM_001004713	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.473	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
OR1I1	126370	broad.mit.edu	37	19	15198245	15198245	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15198245C>T	ENST00000209540.2	+	1	455	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F123F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCGACCGCTTCGTGGCCATTG	0.577																																					p.F123F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	19						.						85.0	71.0	76.0					19																	15198245		2203	4300	6503	15059245	SO:0001819	synonymous_variant	126370	exon1			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.369C>T	19.37:g.15198245C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15059245	NM_001004713	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.577	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
AKAP8L	26993	broad.mit.edu	37	19	15512257	15512257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15512257C>T	ENST00000397410.5	-	5	650	c.520G>A	c.(520-522)Gac>Aac	p.D174N	AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Missense_Mutation_p.D113N	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	174						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D174N(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCGAAGGTGTCGTTGCCACGC	0.652																																					p.D174N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	19						.						50.0	51.0	51.0					19																	15512257		2075	4184	6259	15373257	SO:0001583	missense	26993	exon5			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.520G>A	19.37:g.15512257C>T	ENSP00000380557:p.Asp174Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15373257	NM_014371	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800796	0.70567	.	.	ENSG00000011243	ENST00000397410	T	0.53857	0.6	4.2	4.2	0.49525	.	0.347827	0.28977	N	0.013522	T	0.63236	0.2494	L	0.43923	1.385	0.30875	N	0.732088	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.978;0.915;0.978	T	0.65047	-0.6263	10	0.52906	T	0.07	-20.1874	13.5453	0.61699	0.0:1.0:0.0:0.0	.	113;174;174	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	N	174	ENSP00000380557:D174N	ENSP00000380557:D174N	D	-	1	0	AKAP8L	15373257	0.998000	0.40836	0.935000	0.37517	0.959000	0.62525	3.547000	0.53663	2.166000	0.68216	0.655000	0.94253	GAC		0.652	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	
WIZ	58525	broad.mit.edu	37	19	15537814	15537814	+	Missense_Mutation	SNP	C	C	A	rs368856388		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15537814C>A	ENST00000389282.4	-	6	3844	c.3631G>T	c.(3631-3633)Gac>Tac	p.D1211Y	WIZ_ENST00000263381.7_Missense_Mutation_p.D354Y|WIZ_ENST00000599686.3_Missense_Mutation_p.D395Y|WIZ_ENST00000545156.1_Missense_Mutation_p.D525Y|WIZ_ENST00000599910.2_Missense_Mutation_p.D528Y			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1211					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D354Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGTGTCATGTCTTCCCGTGGT	0.617																																					p.D354Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060T	19						.						71.0	73.0	72.0					19																	15537814		1914	4125	6039	15398814	SO:0001583	missense	58525	exon4			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3631G>T	19.37:g.15537814C>A	ENSP00000373933:p.Asp1211Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	15398814	NM_021241	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	C	18.06	3.538669	0.65085	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.30448	1.53;1.53;1.53	5.67	5.67	0.87782	.	0.423001	0.26103	N	0.026332	T	0.39410	0.1077	N	0.19112	0.55	0.39764	D	0.972071	D;D;P	0.69078	0.997;0.98;0.938	P;P;P	0.62089	0.898;0.735;0.547	T	0.35301	-0.9794	10	0.66056	D	0.02	-29.4933	16.6796	0.85288	0.0:1.0:0.0:0.0	.	1211;354;395	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	Y	1211;354;395;525	ENSP00000373933:D1211Y;ENSP00000263381:D354Y;ENSP00000445824:D525Y	ENSP00000263381:D354Y	D	-	1	0	WIZ	15398814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.461000	0.60115	2.666000	0.90696	0.561000	0.74099	GAC		0.617	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241	
RASAL3	64926	broad.mit.edu	37	19	15574955	15574955	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15574955G>T	ENST00000343625.7	-	2	300	c.215C>A	c.(214-216)tCt>tAt	p.S72Y		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	72					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.S72Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGGAGGCGCAGATAGGACCCG	0.687																																					p.S72Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215A	19						.						19.0	23.0	21.0					19																	15574955		1994	4169	6163	15435955	SO:0001583	missense	64926	exon2				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.215C>A	19.37:g.15574955G>T	ENSP00000341905:p.Ser72Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	15435955	NM_022904	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542906	0.45280	.	.	ENSG00000105122	ENST00000343625	T	0.35789	1.29	4.11	4.11	0.48088	.	0.000000	0.32563	U	0.005929	T	0.53834	0.1821	M	0.64997	1.995	0.36967	D	0.893646	D	0.65815	0.995	D	0.67231	0.95	T	0.64179	-0.6468	10	0.87932	D	0	.	12.5683	0.56322	0.0:0.0:1.0:0.0	.	72	Q86YV0	RASL3_HUMAN	Y	72	ENSP00000341905:S72Y	ENSP00000341905:S72Y	S	-	2	0	RASAL3	15435955	1.000000	0.71417	0.996000	0.52242	0.128000	0.20619	4.654000	0.61469	2.232000	0.73038	0.462000	0.41574	TCT		0.687	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904	
CYP4F22	126410	broad.mit.edu	37	19	15654986	15654986	+	Silent	SNP	C	C	A	rs201956948		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:15654986C>A	ENST00000269703.3	+	10	1231	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	CYP4F22_ENST00000601005.2_Silent_p.I344I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	344						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.I344I(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCAGTGGGATCTCTTGGATGC	0.507																																					p.I344I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032A	19						.						123.0	112.0	116.0					19																	15654986		2203	4300	6503	15515986	SO:0001819	synonymous_variant	126410	exon10				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1032C>A	19.37:g.15654986C>A		Somatic		Capture	Illumina HiSeq	Phase_I	15515986	NM_173483	Q8N8H4	Silent	SNP	ENST00000269703.3	37	CCDS12331.1																																																																																				0.507	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
TPM4	7171	broad.mit.edu	37	19	16199908	16199908	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:16199908C>A	ENST00000300933.4	+	5	769	c.509C>A	c.(508-510)tCt>tAt	p.S170Y	TPM4_ENST00000538887.1_Missense_Mutation_p.S206Y|TPM4_ENST00000344824.6_Missense_Mutation_p.S206Y	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	170					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.S206Y(1)|p.S170Y(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AATCTGAAATCTCTGGAGGCT	0.468			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S206Y			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C617A	19						.						144.0	130.0	135.0					19																	16199908		2203	4300	6503	16060908	SO:0001583	missense	7171	exon6				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.509C>A	19.37:g.16199908C>A	ENSP00000300933:p.Ser170Tyr	Somatic	708	Capture	Illumina HiSeq	Phase_I	16060908	NM_001145160	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963822	0.53507	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	T;T;T	0.81415	-1.49;-1.49;-1.49	5.0	5.0	0.66597	.	0.000000	0.51477	U	0.000092	D	0.93858	0.8035	H	0.98664	4.295	0.80722	D	1	P;D	0.65815	0.902;0.995	P;D	0.70227	0.864;0.968	D	0.96264	0.9193	10	0.87932	D	0	-3.1474	17.6847	0.88253	0.0:1.0:0.0:0.0	.	170;206	P67936;P67936-2	TPM4_HUMAN;.	Y	206;206;170	ENSP00000345230:S206Y;ENSP00000439135:S206Y;ENSP00000300933:S170Y	ENSP00000300933:S170Y	S	+	2	0	TPM4	16060908	1.000000	0.71417	0.170000	0.22879	0.041000	0.13682	7.726000	0.84824	2.482000	0.83794	0.655000	0.94253	TCT		0.468	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290	
CHERP	10523	broad.mit.edu	37	19	16652741	16652741	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:16652741G>T	ENST00000198939.6	-	2	175	c.139C>A	c.(139-141)Ctt>Att	p.L47I	RN7SL146P_ENST00000472338.2_RNA|CHERP_ENST00000546361.2_Missense_Mutation_p.L47I|CTD-3222D19.7_ENST00000595909.1_lincRNA|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.L47I(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCTCCGAAAAGAAACGAGAAT	0.552																																					p.L47I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C139A	19						.						157.0	182.0	174.0					19																	16652741		1991	4154	6145	16513741	SO:0001583	missense	10523	exon2			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.139C>A	19.37:g.16652741G>T	ENSP00000198939:p.Leu47Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16513741	NM_006387		Missense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	G	31	5.066024	0.93898	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.73897	-0.79;-0.79	4.76	4.76	0.60689	SWAP/Surp (3);	.	.	.	.	D	0.87549	0.6205	M	0.87180	2.865	0.52501	D	0.999953	D	0.69078	0.997	D	0.76071	0.987	D	0.88814	0.3294	9	0.46703	T	0.11	-19.3055	16.7641	0.85520	0.0:0.0:1.0:0.0	.	47	Q8IWX8	CHERP_HUMAN	I	47	ENSP00000439856:L47I;ENSP00000198939:L47I	ENSP00000198939:L47I	L	-	1	0	CHERP	16513741	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.259000	0.78381	2.180000	0.69256	0.511000	0.50034	CTT		0.552	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387	
GTPBP3	84705	broad.mit.edu	37	19	17449383	17449383	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:17449383G>A	ENST00000324894.8	+	4	492	c.424G>A	c.(424-426)Gag>Aag	p.E142K	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.E164K|GTPBP3_ENST00000358792.7_Missense_Mutation_p.E142K|GTPBP3_ENST00000600625.1_Missense_Mutation_p.E142K	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	142					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E142K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGGCAGGCGAGTTCACCAG	0.667																																					p.E142K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	19						.						45.0	51.0	49.0					19																	17449383		2203	4299	6502	17310383	SO:0001583	missense	84705	exon4			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.424G>A	19.37:g.17449383G>A	ENSP00000313818:p.Glu142Lys	Somatic		Capture	Illumina HiSeq	Phase_I	17310383	NM_032620	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	g	36	5.606059	0.96626	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.14022	2.54;2.54;2.54	5.22	5.22	0.72569	GTP-binding protein TrmE, N-terminal (2);	0.048785	0.85682	N	0.000000	T	0.56093	0.1962	H	0.98507	4.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.995;0.993	T	0.74890	-0.3510	10	0.87932	D	0	-38.04	16.2832	0.82707	0.0:0.0:1.0:0.0	.	164;142;142;142	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	K	164;142;142	ENSP00000354598:E164K;ENSP00000313818:E142K;ENSP00000351644:E142K	ENSP00000313818:E142K	E	+	1	0	GTPBP3	17310383	1.000000	0.71417	0.945000	0.38365	0.757000	0.42996	9.033000	0.93741	2.437000	0.82529	0.556000	0.70494	GAG		0.667	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
SLC27A1	376497	broad.mit.edu	37	19	17597627	17597627	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:17597627C>T	ENST00000252595.7	+	2	520	c.423C>T	c.(421-423)ttC>ttT	p.F141F	SLC27A1_ENST00000442725.1_Silent_p.F141F|SLC27A1_ENST00000598424.1_5'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	141					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.F141F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCCGGAGTTCGTGGGGCTGT	0.711																																					p.F141F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	19						.						15.0	17.0	16.0					19																	17597627		2189	4277	6466	17458627	SO:0001819	synonymous_variant	376497	exon2			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.423C>T	19.37:g.17597627C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17458627	NM_198580	A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	CCDS32953.1																																																																																				0.711	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
FAM129C	199786	broad.mit.edu	37	19	17664282	17664282	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:17664282C>T	ENST00000335393.4	+	16	2142	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000601861.1_Silent_p.F637F|FAM129C_ENST00000449408.2_Silent_p.F394F	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	668								p.F668F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCCGTGTGTTCTTGGTTCAGC	0.522																																					p.F668F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2004T	19						.						180.0	156.0	164.0					19																	17664282		2203	4300	6503	17525282	SO:0001819	synonymous_variant	199786	exon16			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.2004C>T	19.37:g.17664282C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17525282	NM_173544	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	CCDS12362.1																																																																																				0.522	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
UNC13A	23025	broad.mit.edu	37	19	17720822	17720822	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:17720822C>T	ENST00000519716.2	-	43	4737	c.4738G>A	c.(4738-4740)Gac>Aac	p.D1580N	UNC13A_ENST00000252773.7_Missense_Mutation_p.D1580N|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1574N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1599N|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1553N|UNC13A_ENST00000428389.2_Missense_Mutation_p.D1668N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1580	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D1580N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTTTCTTGTCGCTGAGCTGG	0.512																																					p.D1580N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4738A	19						.						144.0	152.0	149.0					19																	17720822		2097	4242	6339	17581822	SO:0001583	missense	23025	exon41			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4738G>A	19.37:g.17720822C>T	ENSP00000429562:p.Asp1580Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17581822	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563714	0.86335	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.27594	0.0678	M	0.74546	2.27	0.51482	D	0.999921	P	0.42409	0.779	P	0.49451	0.611	T	0.04481	-1.0948	10	0.54805	T	0.06	-23.5109	13.9527	0.64129	0.0:1.0:0.0:0.0	.	1580	Q9UPW8	UN13A_HUMAN	N	1580;1668;1580;1599;1574;1553	ENSP00000429562:D1580N;ENSP00000400409:D1668N;ENSP00000252773:D1580N;ENSP00000447236:D1599N;ENSP00000447572:D1574N;ENSP00000446831:D1553N	ENSP00000252773:D1580N	D	-	1	0	UNC13A	17581822	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	7.691000	0.84191	1.869000	0.54173	0.478000	0.44815	GAC		0.512	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
JAK3	3718	broad.mit.edu	37	19	17948823	17948823	+	Missense_Mutation	SNP	C	C	T	rs199649035		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:17948823C>T	ENST00000527670.1	-	11	1648	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	JAK3_ENST00000458235.1_Missense_Mutation_p.R540H|JAK3_ENST00000526008.1_5'Flank|JAK3_ENST00000534444.1_Missense_Mutation_p.R540H			P52333	JAK3_HUMAN	Janus kinase 3	540	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.R540H(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CACCTCATGGCGACAGCCCCG	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																p.R540H			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1619A	19						.						131.0	127.0	129.0					19																	17948823		2203	4300	6503	17809823	SO:0001583	missense	3718	exon12			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1619G>A	19.37:g.17948823C>T	ENSP00000432511:p.Arg540His	Somatic		Capture	Illumina HiSeq	Phase_I	17809823	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419202	0.25552	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	D;D;D	0.82619	-1.63;-1.63;-1.63	4.93	2.75	0.32379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.143817	0.44483	N	0.000450	T	0.79155	0.4398	M	0.73598	2.24	0.09310	N	1	B;B	0.32101	0.356;0.013	B;B	0.30105	0.111;0.016	T	0.69946	-0.5007	10	0.51188	T	0.08	-21.4129	7.6259	0.28212	0.1636:0.7477:0.0:0.0887	.	540;540	P52333-2;P52333	.;JAK3_HUMAN	H	540	ENSP00000391676:R540H;ENSP00000432511:R540H;ENSP00000436421:R540H	ENSP00000413248:R540H	R	-	2	0	JAK3	17809823	0.003000	0.15002	0.002000	0.10522	0.336000	0.28762	0.482000	0.22276	0.470000	0.27294	0.313000	0.20887	CGC		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
LRRC25	126364	broad.mit.edu	37	19	18502933	18502933	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:18502933G>A	ENST00000339007.3	-	2	1435	c.782C>T	c.(781-783)gCt>gTt	p.A261V	LRRC25_ENST00000595840.1_Missense_Mutation_p.A261V	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	261						integral component of membrane (GO:0016021)		p.A261V(1)		endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGAAGGGTGAGCCCTGGGGGG	0.577																																					p.A261V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C782T	19						.						89.0	84.0	86.0					19																	18502933		2203	4300	6503	18363933	SO:0001583	missense	126364	exon2			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.782C>T	19.37:g.18502933G>A	ENSP00000340983:p.Ala261Val	Somatic		Capture	Illumina HiSeq	Phase_I	18363933	NM_145256	Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	G	8.824	0.938158	0.18206	.	.	ENSG00000175489	ENST00000339007	T	0.38560	1.13	3.87	-4.28	0.03732	.	1.228810	0.06067	N	0.659485	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.15665	-1.0429	10	0.21540	T	0.41	0.5888	0.6114	0.00762	0.1946:0.2841:0.2328:0.2885	.	261	Q8N386	LRC25_HUMAN	V	261	ENSP00000340983:A261V	ENSP00000340983:A261V	A	-	2	0	LRRC25	18363933	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.079000	0.03410	-0.536000	0.06298	0.555000	0.69702	GCT		0.577	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256	
MAU2	23383	broad.mit.edu	37	19	19465200	19465200	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:19465200G>A	ENST00000392313.6	+	17	1764	c.1585G>A	c.(1585-1587)Gcc>Acc	p.A529T	MAU2_ENST00000262815.8_Missense_Mutation_p.A529T	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	529					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.A529T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CATGCAGCTCGCCAGCAAGAT	0.627																																					p.A529T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1585A	19						.						124.0	93.0	104.0					19																	19465200		2203	4300	6503	19326200	SO:0001583	missense	23383	exon17			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1585G>A	19.37:g.19465200G>A	ENSP00000376127:p.Ala529Thr	Somatic		Capture	Illumina HiSeq	Phase_I	19326200	NM_015329	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	35	5.560758	0.96527	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.77557	0.99;0.982;0.955	T	0.81482	-0.0913	9	0.59425	D	0.04	.	17.9609	0.89085	0.0:0.0:1.0:0.0	.	105;134;529	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	T	529	.	ENSP00000262815:A529T	A	+	1	0	MAU2	19326200	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.496000	0.97967	2.605000	0.88082	0.561000	0.74099	GCC		0.627	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
ZNF93	81931	broad.mit.edu	37	19	20044574	20044574	+	Silent	SNP	G	G	A	rs147517275	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:20044574G>A	ENST00000343769.5	+	4	838	c.810G>A	c.(808-810)tcG>tcA	p.S270S	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S270S(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ACCAATCCTCGACACTTACTA	0.363													g|||	5	0.000998403	0.0038	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.0				p.S270S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G810A	19						.						43.0	44.0	44.0					19																	20044574		2203	4295	6498	19905574	SO:0001819	synonymous_variant	81931	exon4			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.810G>A	19.37:g.20044574G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19905574	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	CCDS32973.1																																																																																				0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218	
ZNF93	81931	broad.mit.edu	37	19	20044762	20044762	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:20044762G>T	ENST00000343769.5	+	4	1026	c.998G>T	c.(997-999)aGa>aTa	p.R333I	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333I(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ACACATAAGAGAATTCATACT	0.378																																					p.R333I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998T	19						.						53.0	53.0	53.0					19																	20044762		2203	4300	6503	19905762	SO:0001583	missense	81931	exon4			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.998G>T	19.37:g.20044762G>T	ENSP00000342002:p.Arg333Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19905762	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.488396	0.26686	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.24908	1.83	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22742	0.0549	M	0.72894	2.215	0.37706	D	0.924414	B	0.15930	0.015	B	0.12837	0.008	T	0.08391	-1.0724	9	0.36615	T	0.2	.	3.2487	0.06806	0.3464:0.0:0.6536:0.0	.	333	P35789	ZNF93_HUMAN	I	333	ENSP00000342002:R333I	ENSP00000342002:R333I	R	+	2	0	ZNF93	19905762	0.000000	0.05858	0.726000	0.30738	0.725000	0.41563	-0.218000	0.09240	0.192000	0.20272	0.195000	0.17529	AGA		0.378	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218	
ZNF626	199777	broad.mit.edu	37	19	20807432	20807432	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:20807432T>G	ENST00000601440.1	-	4	1397	c.1251A>C	c.(1249-1251)aaA>aaC	p.K417N	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	417					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.K417N(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						CAGTATGAATTTTCTTATGTG	0.383																																					p.K417N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1251C	19						.						52.0	52.0	52.0					19																	20807432		2130	4253	6383	20599272	SO:0001583	missense	199777	exon4			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1251A>C	19.37:g.20807432T>G	ENSP00000469958:p.Lys417Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20599272	NM_001076675	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	3.411	-0.120110	0.06838	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37404	0.1002	N	0.16862	0.45	0.53688	D	0.999972	B	0.34255	0.445	B	0.42062	0.374	T	0.18366	-1.0339	8	0.59425	D	0.04	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	417	Q68DY1	ZN626_HUMAN	N	417;341;417	.	ENSP00000445201:K417N	K	-	3	2	ZNF626	20599272	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-1.910000	0.01584	0.243000	0.21327	0.240000	0.17902	AAA		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF626	199777	broad.mit.edu	37	19	20807525	20807525	+	Silent	SNP	C	C	T	rs113475678		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:20807525C>T	ENST00000601440.1	-	4	1304	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	386					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.T386T(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTATCTTATGCGTAGTAAGGT	0.383																																					p.T386T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1158A	19						.						59.0	62.0	61.0					19																	20807525		2139	4276	6415	20599365	SO:0001819	synonymous_variant	199777	exon4			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1158G>A	19.37:g.20807525C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20599365	NM_001076675	Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	CCDS42535.1																																																																																				0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF85	7639	broad.mit.edu	37	19	21132069	21132069	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:21132069A>C	ENST00000328178.8	+	4	862	c.749A>C	c.(748-750)aAa>aCa	p.K250T	ZNF85_ENST00000601023.1_Missense_Mutation_p.K191T|ZNF85_ENST00000345030.6_Missense_Mutation_p.K217T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	250					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K250T(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAACATAAGAAAATTCATACT	0.348																																					p.K250T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A749C	19						.						25.0	29.0	27.0					19																	21132069		2164	4269	6433	20923909	SO:0001583	missense	7639	exon4			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.749A>C	19.37:g.21132069A>C	ENSP00000329793:p.Lys250Thr	Somatic		Capture	Illumina HiSeq	Phase_I	20923909	NM_003429	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	0.538	-0.854958	0.02630	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.24908	1.83;1.83	1.35	-1.47	0.08772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34308	0.0893	L	0.55213	1.73	0.80722	D	1	P;B;P	0.51057	0.486;0.425;0.941	B;B;P	0.60473	0.268;0.233;0.875	T	0.18398	-1.0338	9	0.48119	T	0.1	.	6.0441	0.19750	0.5298:0.0:0.4702:0.0	.	217;191;250	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	T	250;217;125	ENSP00000329793:K250T;ENSP00000342340:K217T	ENSP00000329793:K250T	K	+	2	0	ZNF85	20923909	0.000000	0.05858	0.082000	0.20525	0.090000	0.18270	-1.906000	0.01590	-0.366000	0.08064	-0.464000	0.05259	AAA		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
ZNF85	7639	broad.mit.edu	37	19	21132979	21132979	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:21132979T>C	ENST00000328178.8	+	4	1772	c.1659T>C	c.(1657-1659)ctT>ctC	p.L553L	ZNF85_ENST00000601023.1_Silent_p.L494L|ZNF85_ENST00000345030.6_Silent_p.L520L	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	553					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L553L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCTCAAACCTTACTAAACATA	0.348																																					p.L553L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1659C	19						.						30.0	33.0	32.0					19																	21132979		2187	4288	6475	20924819	SO:0001819	synonymous_variant	7639	exon4			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1659T>C	19.37:g.21132979T>C		Somatic		Capture	Illumina HiSeq	Phase_I	20924819	NM_003429	B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	CCDS32977.1																																																																																				0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
ZNF430	80264	broad.mit.edu	37	19	21239638	21239638	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:21239638A>G	ENST00000261560.5	+	5	705	c.524A>G	c.(523-525)gAa>gGa	p.E175G	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	175					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E175G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACCCAGAGTGAAATATTTCAA	0.299																																					p.E174G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521G	19						.						48.0	49.0	49.0					19																	21239638		2202	4300	6502	21031478	SO:0001583	missense	80264	exon5			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.524A>G	19.37:g.21239638A>G	ENSP00000261560:p.Glu175Gly	Somatic		Capture	Illumina HiSeq	Phase_I	21031478	NM_001172671	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	6.233	0.411039	0.11812	.	.	ENSG00000118620	ENST00000261560	T	0.36878	1.23	1.04	1.04	0.20106	.	.	.	.	.	T	0.24851	0.0603	L	0.34521	1.04	0.09310	N	1	B;B	0.28552	0.146;0.215	B;B	0.26614	0.016;0.071	T	0.24012	-1.0172	9	0.87932	D	0	.	5.8565	0.18722	1.0:0.0:0.0:0.0	.	174;175	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	G	175	ENSP00000261560:E175G	ENSP00000261560:E175G	E	+	2	0	ZNF430	21031478	0.024000	0.19004	0.013000	0.15412	0.013000	0.08279	0.230000	0.17852	0.383000	0.24910	0.374000	0.22700	GAA		0.299	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
ZNF431	170959	broad.mit.edu	37	19	21349168	21349168	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:21349168G>A	ENST00000311048.7	+	3	271	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	ZNF431_ENST00000599296.1_Missense_Mutation_p.E43K|ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_Missense_Mutation_p.E43K	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.E43K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCCATAGAATTCTCTCT	0.398																																					p.E43K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	19						.						94.0	101.0	99.0					19																	21349168		2203	4300	6503	21141008	SO:0001583	missense	170959	exon3			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.127G>A	19.37:g.21349168G>A	ENSP00000308578:p.Glu43Lys	Somatic		Capture	Illumina HiSeq	Phase_I	21141008	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	10.90	1.482010	0.26598	.	.	ENSG00000196705	ENST00000311048	T	0.01767	4.65	0.659	0.659	0.17861	Krueppel-associated box (4);	.	.	.	.	T	0.08088	0.0202	M	0.78801	2.425	0.20074	N	0.999935	D	0.76494	0.999	D	0.74674	0.984	T	0.10894	-1.0610	8	0.62326	D	0.03	.	.	.	.	.	43	Q8TF32	ZN431_HUMAN	K	43	ENSP00000308578:E43K	ENSP00000308578:E43K	E	+	1	0	ZNF431	21141008	0.592000	0.26832	0.461000	0.27105	0.157000	0.22087	-1.087000	0.03383	0.608000	0.30000	0.455000	0.32223	GAA		0.398	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
DOT1L	84444	broad.mit.edu	37	19	2191155	2191155	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:2191155G>A	ENST00000398665.3	+	5	445	c.409G>A	c.(409-411)Ggg>Agg	p.G137R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	137	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.|S-adenosyl-L-methionine binding.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.G137R(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		CGAGGTGTACGGGGAGACCTC	0.602																																					p.G137R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	19						.						101.0	114.0	109.0					19																	2191155		2096	4222	6318	2142155	SO:0001583	missense	84444	exon5			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.409G>A	19.37:g.2191155G>A	ENSP00000381657:p.Gly137Arg	Somatic		Capture	Illumina HiSeq	Phase_I	2142155	NM_032482	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058761	0.93846	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.29397	1.57;1.57	4.75	4.75	0.60458	.	0.053373	0.85682	N	0.000000	T	0.67258	0.2874	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78838	-0.2046	10	0.87932	D	0	-27.5326	16.8009	0.85614	0.0:0.0:1.0:0.0	.	137	Q8TEK3-2	.	R	137;137;113	ENSP00000381657:G137R;ENSP00000404284:G113R	ENSP00000221482:G137R	G	+	1	0	DOT1L	2142155	1.000000	0.71417	0.987000	0.45799	0.930000	0.56654	9.169000	0.94788	2.193000	0.70182	0.555000	0.69702	GGG		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	
ZNF493	284443	broad.mit.edu	37	19	21607216	21607216	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:21607216C>A	ENST00000355504.4	+	2	1637	c.1371C>A	c.(1369-1371)ttC>ttA	p.F457L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.F585L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F457L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAGTGTATTCTCAACCCTTA	0.353																																					p.F457L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1371A	19						.						36.0	34.0	35.0					19																	21607216		2203	4298	6501	21399056	SO:0001583	missense	284443	exon2			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1371C>A	19.37:g.21607216C>A	ENSP00000347691:p.Phe457Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21399056	NM_175910	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.169	-1.072953	0.01918	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07021	3.23;3.23	1.06	-0.659	0.11424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.01874	-0.695	0.09310	N	1	B;B	0.17667	0.019;0.023	B;B	0.14578	0.011;0.008	T	0.44298	-0.9337	9	0.33940	T	0.23	.	5.321	0.15881	0.0:0.602:0.0:0.398	.	457;585	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	585;457	ENSP00000376110:F585L;ENSP00000347691:F457L	ENSP00000347691:F457L	F	+	3	2	ZNF493	21399056	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.696000	0.01912	-0.384000	0.07845	-0.373000	0.07131	TTC		0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
DOT1L	84444	broad.mit.edu	37	19	2207633	2207633	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:2207633C>T	ENST00000398665.3	+	11	953	c.917C>T	c.(916-918)aCg>aTg	p.T306M		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	306	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.T306M(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GTGTCGTGGACGGGGAAGCCA	0.672																																					p.T306M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917T	19						.						71.0	85.0	80.0					19																	2207633		2172	4251	6423	2158633	SO:0001583	missense	84444	exon11			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.917C>T	19.37:g.2207633C>T	ENSP00000381657:p.Thr306Met	Somatic		Capture	Illumina HiSeq	Phase_I	2158633	NM_032482	O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.331622|4.331622	0.81690|0.81690	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.26957	.|1.7	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.161249	.|0.53938	.|D	.|0.000045	T|T	0.57946|0.57946	0.2088|0.2088	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.70016	.|0.967	T|T	0.67868|0.67868	-0.5559|-0.5559	5|10	.|0.87932	.|D	.|0	-22.1127|-22.1127	17.3247|17.3247	0.87244|0.87244	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|306	.|Q8TEK3-2	.|.	W|M	93|306	.|ENSP00000381657:T306M	.|ENSP00000221482:T306M	R|T	+|+	1|2	2|0	DOT1L|DOT1L	2158633|2158633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.316000|7.316000	0.79007|0.79007	2.401000|2.401000	0.81631|0.81631	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	
ZNF429	353088	broad.mit.edu	37	19	21720457	21720457	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:21720457G>T	ENST00000358491.4	+	4	1810	c.1602G>T	c.(1600-1602)gaG>gaT	p.E534D	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E534D(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATACTGGAGAGAAACCTTACA	0.363																																					p.E534D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1602T	19						.						40.0	44.0	43.0					19																	21720457		2129	4262	6391	21512297	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1602G>T	19.37:g.21720457G>T	ENSP00000351280:p.Glu534Asp	Somatic		Capture	Illumina HiSeq	Phase_I	21512297	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948145	0.34377	.	.	ENSG00000197013	ENST00000358491	T	0.26810	1.71	0.81	0.81	0.18732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23094	0.0558	L	0.31926	0.97	0.26789	N	0.969441	P	0.50066	0.931	P	0.49597	0.616	T	0.11991	-1.0565	9	0.62326	D	0.03	.	4.3364	0.11089	0.2648:0.0:0.7352:0.0	.	534	Q86V71	ZN429_HUMAN	D	534	ENSP00000351280:E534D	ENSP00000351280:E534D	E	+	3	2	ZNF429	21512297	0.999000	0.42202	0.412000	0.26496	0.413000	0.31143	1.677000	0.37576	0.181000	0.19994	0.184000	0.17185	GAG		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF43	7594	broad.mit.edu	37	19	22001993	22001993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22001993C>A	ENST00000354959.4	-	2	203	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	ZNF43_ENST00000595461.1_Nonsense_Mutation_p.E6*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.E6*|ZNF43_ENST00000594012.1_Nonsense_Mutation_p.E6*|ZNF43_ENST00000598288.1_Nonsense_Mutation_p.E6*	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	12	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E12*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGACAGAATTCTATGGCCACA	0.408																																					p.E12X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G34T	19						.						90.0	95.0	94.0					19																	22001993		2203	4300	6503	21793833	SO:0001587	stop_gained	7594	exon2			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.34G>T	19.37:g.22001993C>A	ENSP00000347045:p.Glu12*	Somatic		Capture	Illumina HiSeq	Phase_I	21793833	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Nonsense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849670	0.91277	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.1108	0.06357	0.4763:0.5235:1.0E-4:1.0E-4	.	.	.	.	X	11;12	.	ENSP00000347045:E12X	E	-	1	0	ZNF43	21793833	0.108000	0.22018	0.968000	0.41197	0.968000	0.65278	-0.241000	0.08940	0.300000	0.22699	0.305000	0.20034	GAA		0.408	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF208	7757	broad.mit.edu	37	19	22154522	22154522	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22154522C>A	ENST00000397126.4	-	4	3462	c.3314G>T	c.(3313-3315)aGa>aTa	p.R1105I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R977I(2)|p.R1105I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTC	0.393																																					p.R1105I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3314T	19						.						65.0	68.0	67.0					19																	22154522		2086	4239	6325	21946362	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3314G>T	19.37:g.22154522C>A	ENSP00000380315:p.Arg1105Ile	Somatic		Capture	Illumina HiSeq	Phase_I	21946362	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	7.378	0.628260	0.14257	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02446	4.29	2.59	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.64144	0.922	T	0.20306	-1.0279	8	0.45353	T	0.12	.	9.2481	0.37539	0.0:0.8399:0.0:0.16	.	977	O43345	ZN208_HUMAN	I	1105;977	ENSP00000380315:R1105I	ENSP00000380315:R1105I	R	-	2	0	ZNF208	21946362	0.000000	0.05858	0.003000	0.11579	0.124000	0.20399	-0.834000	0.04391	1.029000	0.39812	0.297000	0.19635	AGA		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF257	113835	broad.mit.edu	37	19	22271382	22271382	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22271382G>T	ENST00000594947.1	+	4	974	c.830G>T	c.(829-831)aGa>aTa	p.R277I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R277I(2)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAACATAAGAGAATTCATAAT	0.373																																					p.R277I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G830T	19						.						41.0	44.0	43.0					19																	22271382		2017	4213	6230	22063222	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.830G>T	19.37:g.22271382G>T	ENSP00000470209:p.Arg277Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22063222	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.099	-1.155089	0.01700	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.278	0.12894	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47525	0.1450	M	0.66560	2.04	0.41106	D	0.9857	B	0.06786	0.001	B	0.08055	0.003	T	0.25779	-1.0122	8	0.25751	T	0.34	.	4.8235	0.13405	0.1584:0.0:0.6321:0.2095	.	277	Q9Y2Q1	ZN257_HUMAN	I	277;249	.	ENSP00000380312:R249I	R	+	2	0	ZNF257	22063222	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.138000	0.03216	-2.025000	0.00935	-2.281000	0.00270	AGA		0.373	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF676	163223	broad.mit.edu	37	19	22362861	22362861	+	Missense_Mutation	SNP	C	C	A	rs201300029	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22362861C>A	ENST00000397121.2	-	3	1975	c.1658G>T	c.(1657-1659)aGa>aTa	p.R553I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	553					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.R553I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21155	0.001		0.0	False		,,,				2504	0.0				p.R553I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1658T	19						.	C	ILE/ARG	11,4231		0,11,2110	64.0	67.0	66.0		1658	-1.6	0.0	19		66	0,8508		0,0,4254	yes	missense	ZNF676	NM_001001411.2	97	0,11,6364	AA,AC,CC		0.0,0.2593,0.0863	benign	553/589	22362861	11,12739	2121	4254	6375	22154701	SO:0001583	missense	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1658G>T	19.37:g.22362861C>A	ENSP00000380310:p.Arg553Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22154701	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	1.558	-0.537453	0.04082	0.002593	0.0	ENSG00000196109	ENST00000397121	T	0.24908	1.83	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13543	0.0328	L	0.31476	0.935	0.36586	D	0.873843	B	0.33494	0.414	B	0.23018	0.043	T	0.30736	-0.9968	9	0.35671	T	0.21	.	7.768	0.28991	0.3982:0.6018:0.0:0.0	.	553	Q8N7Q3	ZN676_HUMAN	I	553	ENSP00000380310:R553I	ENSP00000380310:R553I	R	-	2	0	ZNF676	22154701	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.989000	0.03736	-2.950000	0.00293	-2.994000	0.00078	AGA		0.378	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF676	163223	broad.mit.edu	37	19	22363868	22363868	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22363868T>C	ENST00000397121.2	-	3	968	c.651A>G	c.(649-651)gtA>gtG	p.V217V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	217				KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174). {ECO:0000305}.	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.V217V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGTATGAATTACCTTATGTT	0.338																																					p.V217V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A651G	19						.						44.0	48.0	47.0					19																	22363868		2087	4227	6314	22155708	SO:0001819	synonymous_variant	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.651A>G	19.37:g.22363868T>C		Somatic		Capture	Illumina HiSeq	Phase_I	22155708	NM_001001411	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF676	163223	broad.mit.edu	37	19	22364334	22364334	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22364334G>T	ENST00000397121.2	-	3	502	c.185C>A	c.(184-186)tCt>tAt	p.S62Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	62					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.S62Y(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTTTGGAAAGAATCTTCTAT	0.308																																					p.S62Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C185A	19						.						52.0	46.0	48.0					19																	22364334		1888	4145	6033	22156174	SO:0001583	missense	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.185C>A	19.37:g.22364334G>T	ENSP00000380310:p.Ser62Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	22156174	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.393	-0.339470	0.05243	.	.	ENSG00000196109	ENST00000397121	T	0.08984	3.03	0.814	0.814	0.18756	.	.	.	.	.	T	0.16599	0.0399	M	0.69463	2.115	0.09310	N	1	D	0.55605	0.972	P	0.58013	0.831	T	0.12167	-1.0558	9	0.35671	T	0.21	.	4.7761	0.13180	0.0:0.0:1.0:0.0	.	62	Q8N7Q3	ZN676_HUMAN	Y	62	ENSP00000380310:S62Y	ENSP00000380310:S62Y	S	-	2	0	ZNF676	22156174	0.001000	0.12720	0.070000	0.20053	0.069000	0.16628	0.404000	0.20999	0.183000	0.20059	0.186000	0.17326	TCT		0.308	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF98	148198	broad.mit.edu	37	19	22574440	22574440	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22574440G>T	ENST00000357774.5	-	4	1718	c.1597C>A	c.(1597-1599)Ctt>Att	p.L533I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	533					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.L533I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTCTGTTAAGAATAGAGGAG	0.368																																					p.L533I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1597A	19						.						44.0	38.0	40.0					19																	22574440		2093	4238	6331	22366280	SO:0001583	missense	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1597C>A	19.37:g.22574440G>T	ENSP00000350418:p.Leu533Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22366280	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	8.257	0.810250	0.16537	.	.	ENSG00000197360	ENST00000357774	T	0.10860	2.83	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	M	0.75447	2.3	0.09310	N	1	D	0.63880	0.993	D	0.66979	0.948	T	0.04103	-1.0977	9	0.72032	D	0.01	.	9.1256	0.36812	0.0:0.0:1.0:0.0	.	533	A6NK75	ZNF98_HUMAN	I	533	ENSP00000350418:L533I	ENSP00000350418:L533I	L	-	1	0	ZNF98	22366280	0.001000	0.12720	0.005000	0.12908	0.098000	0.18820	-0.467000	0.06664	0.750000	0.32877	0.289000	0.19496	CTT		0.368	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF98	148198	broad.mit.edu	37	19	22574578	22574578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22574578C>A	ENST00000357774.5	-	4	1580	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	487					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.E487*(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAGGGCTTCTCTCCAGTATGA	0.388																																					p.E487X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1459T	19						.						68.0	62.0	64.0					19																	22574578		2171	4256	6427	22366418	SO:0001587	stop_gained	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1459G>T	19.37:g.22574578C>A	ENSP00000350418:p.Glu487*	Somatic		Capture	Illumina HiSeq	Phase_I	22366418	NM_001098626		Nonsense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	19.17	3.775802	0.70107	.	.	ENSG00000197360	ENST00000357774	.	.	.	1.26	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.3872	0.38349	0.0:1.0:0.0:0.0	.	.	.	.	X	487	.	ENSP00000350418:E487X	E	-	1	0	ZNF98	22366418	0.012000	0.17670	0.009000	0.14445	0.036000	0.12997	2.097000	0.41748	0.665000	0.31066	0.289000	0.19496	GAG		0.388	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF492	57615	broad.mit.edu	37	19	22847457	22847457	+	Missense_Mutation	SNP	G	G	T	rs375301915		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22847457G>T	ENST00000456783.2	+	4	1230	c.986G>T	c.(985-987)aGa>aTa	p.R329I	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	329					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.R329I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGAGAATTCATTCT	0.378																																					p.R329I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G986T	19						.	G	ILE/ARG	1,4119		0,1,2059	22.0	25.0	24.0		986	-2.2	0.0	19		24	0,8474		0,0,4237	no	missense	ZNF492	NM_020855.2	97	0,1,6296	TT,TG,GG		0.0,0.0243,0.0079	benign	329/532	22847457	1,12593	2060	4237	6297	22639297	SO:0001583	missense	57615	exon4			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.986G>T	19.37:g.22847457G>T	ENSP00000413660:p.Arg329Ile	Somatic		Capture	Illumina HiSeq	Phase_I	22639297	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	0.110	-1.139252	0.01728	2.43E-4	0.0	ENSG00000229676	ENST00000456783	T	0.02446	4.29	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	L	0.59912	1.85	0.40072	D	0.976021	B	0.18610	0.029	B	0.21360	0.034	T	0.39563	-0.9608	9	0.27082	T	0.32	.	5.9348	0.19158	0.3873:0.0:0.6127:0.0	.	329	Q9P255	ZN492_HUMAN	I	329	ENSP00000413660:R329I	ENSP00000413660:R329I	R	+	2	0	ZNF492	22639297	0.000000	0.05858	0.014000	0.15608	0.013000	0.08279	-0.101000	0.10973	-0.812000	0.04363	-0.798000	0.03219	AGA		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
ZNF99	7652	broad.mit.edu	37	19	22939534	22939534	+	IGR	SNP	C	C	A	rs74170737		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:22939534C>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.K879N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.K879N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTATCTTATGTTTCA	0.353																																					p.K879N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2637T	19						.						35.0	47.0	43.0					19																	22939534		1866	4207	6073	22731374	SO:0001628	intergenic_variant	7652	exon7			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939534C>A		Somatic		Capture	Illumina HiSeq	Phase_I	22731374	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	6.640	0.486557	0.12641	.	.	ENSG00000213973	ENST00000397104	T	0.51817	0.69	1.32	0.0804	0.14420	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58722	0.2142	.	.	.	0.09310	N	0.999998	D	0.65815	0.995	D	0.68483	0.958	T	0.47947	-0.9077	8	0.72032	D	0.01	.	4.5373	0.12040	0.0:0.6178:0.2197:0.1625	.	879	A8MXY4	ZNF99_HUMAN	N	879	ENSP00000380293:K879N	ENSP00000380293:K879N	K	-	3	2	ZNF99	22731374	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.820000	0.04457	-0.275000	0.09219	-1.236000	0.01555	AAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF675	171392	broad.mit.edu	37	19	23837246	23837246	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:23837246C>A	ENST00000359788.4	-	4	657	c.489G>T	c.(487-489)aaG>aaT	p.K163N	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	163					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K163N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGTTTTATCTTATGTCTAT	0.303																																					p.K163N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	19						.						61.0	60.0	60.0					19																	23837246		2202	4297	6499	23629086	SO:0001583	missense	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.489G>T	19.37:g.23837246C>A	ENSP00000352836:p.Lys163Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23629086	NM_138330	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	3.942	-0.013931	0.07681	.	.	ENSG00000197372	ENST00000359788	T	0.29142	1.58	0.225	0.225	0.15325	.	.	.	.	.	T	0.35711	0.0941	L	0.42529	1.33	0.23865	N	0.996625	B	0.31503	0.326	P	0.49597	0.616	T	0.50048	-0.8873	9	0.49607	T	0.09	.	3.8647	0.09012	1.0E-4:0.5249:0.4748:1.0E-4	.	163	Q8TD23	ZN675_HUMAN	N	163	ENSP00000352836:K163N	ENSP00000352836:K163N	K	-	3	2	ZNF675	23629086	0.000000	0.05858	0.062000	0.19696	0.060000	0.15804	-0.646000	0.05403	0.300000	0.22699	0.305000	0.20034	AAG		0.303	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
TSHZ3	57616	broad.mit.edu	37	19	31770414	31770414	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:31770414G>A	ENST00000240587.4	-	2	612	c.285C>T	c.(283-285)aaC>aaT	p.N95N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	95					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N95N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTCCTCTTCGTTCTTGATGG	0.552																																					p.N95N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285T	19						.						99.0	97.0	97.0					19																	31770414		2078	4216	6294	36462254	SO:0001819	synonymous_variant	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.285C>T	19.37:g.31770414G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36462254	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
GPATCH1	55094	broad.mit.edu	37	19	33584334	33584334	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:33584334G>T	ENST00000170564.2	+	4	678	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	122					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D122Y(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAAAACCAAAGACAGAATACG	0.443																																					p.D122Y	Pancreas(67;88 1713 4567 18227)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364T	19						.						113.0	106.0	108.0					19																	33584334		2203	4300	6503	38276174	SO:0001583	missense	55094	exon4			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.364G>T	19.37:g.33584334G>T	ENSP00000170564:p.Asp122Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38276174	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614648	0.87359	.	.	ENSG00000076650	ENST00000170564	T	0.13420	2.59	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	D	0.66602	0.945	T	0.01608	-1.1313	10	0.72032	D	0.01	-21.482	18.3403	0.90303	0.0:0.0:1.0:0.0	.	122	Q9BRR8	GPTC1_HUMAN	Y	122	ENSP00000170564:D122Y	ENSP00000170564:D122Y	D	+	1	0	GPATCH1	38276174	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.326000	0.90010	2.577000	0.86979	0.557000	0.71058	GAC		0.443	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
ZNF599	148103	broad.mit.edu	37	19	35250984	35250984	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:35250984T>C	ENST00000329285.8	-	4	1095	c.722A>G	c.(721-723)gAt>gGt	p.D241G		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	241					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.D241G(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCGAATGACATCAGCCATATA	0.478																																					p.D241G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A722G	19						.						156.0	159.0	158.0					19																	35250984		2203	4300	6503	39942824	SO:0001583	missense	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.722A>G	19.37:g.35250984T>C	ENSP00000333802:p.Asp241Gly	Somatic		Capture	Illumina HiSeq	Phase_I	39942824	NM_001007248	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	0.076	-1.192750	0.01607	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.15256	2.44	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.28054	0.825	0.18873	N	0.999984	B	0.24920	0.114	B	0.26693	0.072	T	0.23904	-1.0175	9	0.36615	T	0.2	.	8.4007	0.32583	0.0:0.0:0.0:1.0	.	241	Q96NL3	ZN599_HUMAN	G	240;241;43	ENSP00000333802:D241G	ENSP00000333802:D241G	D	-	2	0	ZNF599	39942824	0.000000	0.05858	0.014000	0.15608	0.135000	0.20990	0.730000	0.26043	1.297000	0.44761	0.260000	0.18958	GAT		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
MAG	4099	broad.mit.edu	37	19	35786626	35786626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:35786626G>A	ENST00000392213.3	+	4	316	c.157G>A	c.(157-159)Gct>Act	p.A53T	MAG_ENST00000597035.1_Missense_Mutation_p.A53T|MAG_ENST00000361922.4_Missense_Mutation_p.A53T|MAG_ENST00000537831.2_Missense_Mutation_p.A28T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	53	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.A53T(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGCGGCCCGCTGTGGTGCA	0.622																																					p.A28T												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G82A	19						.						78.0	81.0	80.0					19																	35786626		2203	4300	6503	40478466	SO:0001583	missense	4099	exon4			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.157G>A	19.37:g.35786626G>A	ENSP00000376048:p.Ala53Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40478466	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687043	0.29962	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.43294	0.95;0.95;0.95	5.4	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.316454	0.34133	N	0.004234	T	0.13628	0.0330	N	0.05383	-0.06	0.20403	N	0.999909	P;P;P	0.36144	0.48;0.539;0.539	B;B;B	0.21151	0.033;0.024;0.024	T	0.16453	-1.0402	10	0.09843	T	0.71	.	4.9197	0.13864	0.0804:0.1469:0.6207:0.1519	.	90;53;53	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	90;53;53;28	ENSP00000355234:A53T;ENSP00000376048:A53T;ENSP00000440695:A28T	ENSP00000262624:A90T	A	+	1	0	MAG	40478466	0.027000	0.19231	0.106000	0.21319	0.842000	0.47809	0.990000	0.29642	0.775000	0.33450	-0.374000	0.07098	GCT		0.622	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
CD22	933	broad.mit.edu	37	19	35831926	35831926	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:35831926G>A	ENST00000085219.5	+	7	1458	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	CD22_ENST00000419549.2_Silent_p.E292E|CD22_ENST00000536635.2_Silent_p.E376E|CD22_ENST00000594250.1_Silent_p.E287E|CD22_ENST00000270311.6_Silent_p.E344E|CD22_ENST00000544992.2_Silent_p.E464E|CD22_ENST00000341773.6_Silent_p.E287E	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	464	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.E464E(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGGAGGAGCCATCGCTTG	0.552																																					p.E464E	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1392A	19						.						86.0	78.0	81.0					19																	35831926		2203	4300	6503	40523766	SO:0001819	synonymous_variant	933	exon7			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1392G>A	19.37:g.35831926G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40523766	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
CD22	933	broad.mit.edu	37	19	35837091	35837091	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:35837091G>T	ENST00000085219.5	+	13	2431	c.2365G>T	c.(2365-2367)Gac>Tac	p.D789Y	CD22_ENST00000419549.2_Missense_Mutation_p.D617Y|CD22_ENST00000536635.2_Missense_Mutation_p.D701Y|CD22_ENST00000594250.1_Missense_Mutation_p.D612Y|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Missense_Mutation_p.D604Y|CD22_ENST00000544992.2_Missense_Mutation_p.G749V|CD22_ENST00000341773.6_Missense_Mutation_p.D612Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	789				PD -> RT (in Ref. 1; CAA42006). {ECO:0000305}.	cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.D789Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCTCCCCCGGACTGCGATGA	0.587																																					p.G749V	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2246T	19						.						110.0	96.0	101.0					19																	35837091		2203	4300	6503	40528931	SO:0001583	missense	933	exon12			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2365G>T	19.37:g.35837091G>T	ENSP00000085219:p.Asp789Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	40528931	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.348461|1.348461	0.24426|0.24426	.|.	.|.	ENSG00000012124|ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549|ENST00000544992	T;T;T;T;T|T	0.56275|0.41400	0.93;0.53;0.47;0.8;1.0|1.0	3.67|3.67	-1.08|-1.08	0.09936|0.09936	.|.	0.657428|.	0.13447|.	N|.	0.387228|.	T|T	0.28366|0.28366	0.0701|0.0701	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;D;P;D|B	0.62365|0.09022	0.412;0.975;0.947;0.991|0.002	B;P;B;P|B	0.54544|0.04013	0.087;0.725;0.254;0.755|0.001	T|T	0.24835|0.24835	-1.0149|-1.0149	10|9	0.72032|0.87932	D|D	0.01|0	.|.	7.5195|7.5195	0.27620|0.27620	0.5012:0.0:0.4988:0.0|0.5012:0.0:0.4988:0.0	.|.	617;701;789;612|749	Q32M46;F5H7U3;P20273;P20273-2|F5GYU4	.;.;CD22_HUMAN;.|.	Y|V	789;701;612;604;617|749	ENSP00000085219:D789Y;ENSP00000442279:D701Y;ENSP00000339349:D612Y;ENSP00000270311:D604Y;ENSP00000403822:D617Y|ENSP00000441237:G749V	ENSP00000085219:D789Y|ENSP00000441237:G749V	D|G	+|+	1|2	0|0	CD22|CD22	40528931|40528931	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.017000|-0.017000	0.12590|0.12590	-0.424000|-0.424000	0.07382|0.07382	0.313000|0.313000	0.20887|0.20887	GAC|GGA		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
FFAR3	2865	broad.mit.edu	37	19	35850252	35850252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:35850252G>T	ENST00000327809.4	+	2	661	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	FFAR3_ENST00000594310.1_Nonsense_Mutation_p.E154*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	154					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.E154*(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTACGTCATAGAATTCTCAGG	0.627																																					p.E154X	Esophageal Squamous(185;1742 2042 21963 24215 27871)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G460T	19						.						31.0	24.0	26.0					19																	35850252		2200	4289	6489	40542092	SO:0001587	stop_gained	2865	exon2			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.460G>T	19.37:g.35850252G>T	ENSP00000328230:p.Glu154*	Somatic		Capture	Illumina HiSeq	Phase_I	40542092	NM_005304	B2RWM8|Q14CM7	Nonsense_Mutation	SNP	ENST00000327809.4	37	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971548	0.34754	.	.	ENSG00000185897	ENST00000327809	.	.	.	5.37	3.17	0.36434	.	0.118446	0.56097	U	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-11.5917	8.3834	0.32486	0.0827:0.0:0.7635:0.1538	.	.	.	.	X	154	.	ENSP00000328230:E154X	E	+	1	0	FFAR3	40542092	0.040000	0.19996	0.001000	0.08648	0.006000	0.05464	0.786000	0.26844	0.612000	0.30071	0.455000	0.32223	GAA		0.627	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304	
DMKN	93099	broad.mit.edu	37	19	36003576	36003576	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36003576T>C	ENST00000339686.3	-	2	719	c.543A>G	c.(541-543)gcA>gcG	p.A181A	DMKN_ENST00000451297.2_Silent_p.A181A|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000424570.2_Silent_p.A181A|DMKN_ENST00000440396.1_Silent_p.A181A|DMKN_ENST00000419602.1_Silent_p.A181A|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000418261.1_Silent_p.A181A|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000447113.2_Silent_p.A181A|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000429837.1_Silent_p.A181A|DMKN_ENST00000488892.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	181	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A181A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAAAGCTGCCTGCTGAGTTTC	0.597																																					p.A181A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A543G	19						.						77.0	80.0	79.0					19																	36003576		2203	4300	6503	40695416	SO:0001819	synonymous_variant	93099	exon2			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.543A>G	19.37:g.36003576T>C		Somatic		Capture	Illumina HiSeq	Phase_I	40695416	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1																																																																																				0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
SBSN	374897	broad.mit.edu	37	19	36017764	36017764	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36017764C>A	ENST00000452271.2	-	1	1448	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	SBSN_ENST00000518157.1_Missense_Mutation_p.D131Y	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	474	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.D131Y(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCGCTTTGTCTGCTTCCTTC	0.597																																					p.D474Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1420T	19						.						77.0	68.0	71.0					19																	36017764		2203	4300	6503	40709604	SO:0001583	missense	374897	exon1			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1420G>T	19.37:g.36017764C>A	ENSP00000430242:p.Asp474Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	40709604	NM_001166034	A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	c	11.04	1.520485	0.27211	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.57107	0.63;0.42	4.46	3.39	0.38822	.	0.157118	0.29015	U	0.013406	T	0.66436	0.2789	M	0.65498	2.005	0.23003	N	0.998445	D;P	0.76494	0.999;0.815	D;P	0.65443	0.935;0.515	T	0.58836	-0.7566	10	0.62326	D	0.03	.	11.5375	0.50645	0.1808:0.8192:0.0:0.0	.	131;474	Q6UWP8;E9PBV3	SBSN_HUMAN;.	Y	474;131	ENSP00000430242:D474Y;ENSP00000428771:D131Y	ENSP00000430242:D474Y	D	-	1	0	SBSN	40709604	0.797000	0.28877	0.179000	0.23059	0.110000	0.19582	0.951000	0.29135	0.930000	0.37217	0.457000	0.33378	GAC		0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
ATP4A	495	broad.mit.edu	37	19	36053470	36053470	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36053470C>T	ENST00000262623.3	-	4	315	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	96					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.G96D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CTCTGGGGTGCCCCGTGGTGG	0.701																																					p.G96D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	19						.						21.0	21.0	21.0					19																	36053470		2199	4299	6498	40745310	SO:0001583	missense	495	exon4				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.287G>A	19.37:g.36053470C>T	ENSP00000262623:p.Gly96Asp	Somatic		Capture	Illumina HiSeq	Phase_I	40745310	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	11.58	1.681229	0.29872	.	.	ENSG00000105675	ENST00000262623	T	0.79033	-1.23	3.53	3.53	0.40419	ATPase, P-type cation-transporter, N-terminal (2);	0.117952	0.31358	N	0.007793	T	0.71542	0.3352	L	0.58101	1.795	0.29784	N	0.833721	B	0.17038	0.02	B	0.24006	0.05	T	0.66866	-0.5815	10	0.39692	T	0.17	.	8.8738	0.35332	0.0:0.7695:0.2305:0.0	.	96	P20648	ATP4A_HUMAN	D	96	ENSP00000262623:G96D	ENSP00000262623:G96D	G	-	2	0	ATP4A	40745310	0.002000	0.14202	0.674000	0.29902	0.622000	0.37654	1.210000	0.32370	1.814000	0.52955	0.465000	0.42564	GGC		0.701	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
ZBTB32	27033	broad.mit.edu	37	19	36206190	36206190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36206190G>A	ENST00000392197.2	+	3	980	c.662G>A	c.(661-663)gGc>gAc	p.G221D	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000607650.1_RNA|ZBTB32_ENST00000262630.3_Missense_Mutation_p.G221D|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	221					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G221D(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCAGGGGGCTCTGAGGAA	0.632																																					p.G221D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	19						.						50.0	51.0	51.0					19																	36206190		2203	4300	6503	40898030	SO:0001583	missense	27033	exon2			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.662G>A	19.37:g.36206190G>A	ENSP00000376035:p.Gly221Asp	Somatic		Capture	Illumina HiSeq	Phase_I	40898030	NM_014383	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932128	0.52866	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09163	3.01;3.01	5.01	2.35	0.29111	.	0.636429	0.14042	N	0.345349	T	0.07143	0.0181	L	0.32530	0.975	0.28605	N	0.908942	B	0.17038	0.02	B	0.17979	0.02	T	0.16305	-1.0407	10	0.27785	T	0.31	-4.5385	4.1942	0.10435	0.1604:0.2283:0.6113:0.0	.	221	Q9Y2Y4	ZBT32_HUMAN	D	221	ENSP00000262630:G221D;ENSP00000376035:G221D	ENSP00000262630:G221D	G	+	2	0	ZBTB32	40898030	0.962000	0.33011	0.989000	0.46669	0.400000	0.30750	1.344000	0.33941	2.326000	0.78906	0.655000	0.94253	GGC		0.632	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
U2AF1L4	199746	broad.mit.edu	37	19	36235266	36235266	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36235266G>A	ENST00000412391.2	-	5	319	c.306C>T	c.(304-306)tgC>tgT	p.C102C	IGFLR1_ENST00000592537.1_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000588100.1_5'Flank|U2AF1L4_ENST00000292879.5_Silent_p.C63C|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000378975.3_Silent_p.C63C|IGFLR1_ENST00000246532.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|AC002398.11_ENST00000591091.1_RNA|PSENEN_ENST00000222266.2_5'Flank|PSENEN_ENST00000587708.2_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	102	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.C63C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAAGGTTGTCGCACACATTCA	0.552																																					p.C63C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C189T	19						.						144.0	138.0	140.0					19																	36235266		2203	4300	6503	40927106	SO:0001819	synonymous_variant	199746	exon3			BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.306C>T	19.37:g.36235266G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40927106	NM_144987	A6NKI8|Q56UU3	Silent	SNP	ENST00000412391.2	37		.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967720	0.02232	.	.	ENSG00000161265	ENST00000392196	.	.	.	5.41	-4.83	0.03161	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23583	-1.0184	5	0.10636	T	0.68	-9.1051	7.4434	0.27196	0.7028:0.0:0.1626:0.1345	.	.	.	.	V	3	.	ENSP00000376034:A3V	A	-	2	0	U2AF1L4	40927106	0.148000	0.22702	0.971000	0.41717	0.014000	0.08584	-0.347000	0.07750	-0.636000	0.05524	-1.157000	0.01802	GCG		0.552	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987	
NPHS1	4868	broad.mit.edu	37	19	36322017	36322017	+	Missense_Mutation	SNP	C	C	T	rs369787477		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36322017C>T	ENST00000378910.5	-	27	3418	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R1100H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1140			R -> C (in NPHS1; does not affect protein expression on the cell surface). {ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R1140H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCAGGGAGCGGTAATACGG	0.582																																					p.R1140H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3419A	19						.	C	HIS/ARG	0,4406		0,0,2203	79.0	75.0	77.0		3419	3.9	1.0	19		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS1	NM_004646.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1140/1242	36322017	1,13005	2203	4300	6503	41013857	SO:0001583	missense	4868	exon27				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3419G>A	19.37:g.36322017C>T	ENSP00000368190:p.Arg1140His	Somatic		Capture	Illumina HiSeq	Phase_I	41013857	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	0.102	-1.150714	0.01700	0.0	1.16E-4	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.72835	-0.69;-0.56	4.92	3.88	0.44766	.	0.189064	0.47852	N	0.000214	T	0.37265	0.0997	N	0.01576	-0.805	0.20975	N	0.999818	B	0.02656	0.0	B	0.01281	0.0	T	0.22452	-1.0216	10	0.14656	T	0.56	-7.2962	7.2927	0.26374	0.0:0.099:0.0:0.901	.	1140	O60500	NPHN_HUMAN	H	1140;1100	ENSP00000368190:R1140H;ENSP00000343634:R1100H	ENSP00000343634:R1100H	R	-	2	0	NPHS1	41013857	1.000000	0.71417	0.999000	0.59377	0.079000	0.17450	1.284000	0.33249	0.937000	0.37394	-0.414000	0.06135	CGC		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
NPHS1	4868	broad.mit.edu	37	19	36330223	36330223	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36330223A>C	ENST00000378910.5	-	22	3024	c.3025T>G	c.(3025-3027)Tac>Gac	p.Y1009D	NPHS1_ENST00000353632.6_Missense_Mutation_p.Y1009D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1009	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.Y1009D(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGACCCTGTATCTTGTAGAA	0.592																																					p.Y1009D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3025G	19						.						96.0	88.0	91.0					19																	36330223		2203	4300	6503	41022063	SO:0001583	missense	4868	exon22				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3025T>G	19.37:g.36330223A>C	ENSP00000368190:p.Tyr1009Asp	Somatic		Capture	Illumina HiSeq	Phase_I	41022063	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678439	0.68042	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.89343	-2.5;-2.5	4.61	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.139405	0.50627	D	0.000106	D	0.95834	0.8644	H	0.96111	3.77	0.52501	D	0.999954	D	0.65815	0.995	D	0.72982	0.979	D	0.96631	0.9467	10	0.87932	D	0	-5.2265	12.0017	0.53235	1.0:0.0:0.0:0.0	.	1009	O60500	NPHN_HUMAN	D	1009	ENSP00000368190:Y1009D;ENSP00000343634:Y1009D	ENSP00000343634:Y1009D	Y	-	1	0	NPHS1	41022063	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	6.319000	0.72871	1.943000	0.56356	0.477000	0.44152	TAC		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
APLP1	333	broad.mit.edu	37	19	36365650	36365650	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36365650G>A	ENST00000221891.4	+	10	1415	c.1223G>A	c.(1222-1224)cGt>cAt	p.R408H	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.R402H|APLP1_ENST00000537454.2_Missense_Mutation_p.R369H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	408					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.R408H(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCGGAGCGTGTCCTGTTG	0.677																																					p.R408H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223A	19						.						57.0	40.0	46.0					19																	36365650		2203	4299	6502	41057490	SO:0001583	missense	333	exon10			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1223G>A	19.37:g.36365650G>A	ENSP00000221891:p.Arg408His	Somatic		Capture	Illumina HiSeq	Phase_I	41057490	NM_001024807	O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011231	0.54361	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48836	0.8;0.8	4.27	4.27	0.50696	Amyloidogenic glycoprotein, E2 domain (2);	0.153019	0.30771	N	0.008908	T	0.49508	0.1561	L	0.43923	1.385	0.44956	D	0.997978	D;B;P;P	0.67145	0.996;0.095;0.917;0.932	P;B;B;B	0.53266	0.722;0.008;0.104;0.167	T	0.38351	-0.9665	10	0.20046	T	0.44	-8.9873	14.5322	0.67934	0.0:0.0:1.0:0.0	.	402;369;408;408	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	369;408	ENSP00000441501:R369H;ENSP00000221891:R408H	ENSP00000221891:R408H	R	+	2	0	APLP1	41057490	1.000000	0.71417	0.942000	0.38095	0.805000	0.45488	4.841000	0.62824	2.092000	0.63282	0.555000	0.69702	CGT		0.677	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
ZFP82	284406	broad.mit.edu	37	19	36883666	36883666	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36883666T>G	ENST00000392161.3	-	5	1818	c.1576A>C	c.(1576-1578)Aaa>Caa	p.K526Q	ZFP82_ENST00000392171.1_Missense_Mutation_p.K526Q	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K526Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTATGAATTTTCAGATGATGA	0.323																																					p.K526Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1576C	19						.						44.0	44.0	44.0					19																	36883666		2202	4300	6502	41575506	SO:0001583	missense	284406	exon5			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1576A>C	19.37:g.36883666T>G	ENSP00000431265:p.Lys526Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41575506	NM_133466	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297319	0.60086	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.09255	3.1;3.0	4.29	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.158462	0.29783	N	0.011212	T	0.11623	0.0283	L	0.46885	1.475	0.34787	D	0.735302	P	0.46020	0.871	B	0.40864	0.342	T	0.19192	-1.0313	10	0.66056	D	0.02	.	11.7114	0.51626	0.0:0.0:0.0:1.0	.	526	Q8N141	ZFP82_HUMAN	Q	526	ENSP00000431265:K526Q;ENSP00000446080:K526Q	ENSP00000431265:K526Q	K	-	1	0	ZFP82	41575506	0.082000	0.21442	1.000000	0.80357	0.980000	0.70556	2.197000	0.42696	1.939000	0.56221	0.482000	0.46254	AAA		0.323	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
ZNF566	84924	broad.mit.edu	37	19	36963890	36963890	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:36963890G>T	ENST00000434377.2	-	4	236	c.155C>A	c.(154-156)cCa>cAa	p.P52Q	ZNF566_ENST00000424129.2_Missense_Mutation_p.P52Q|ZNF566_ENST00000392170.2_Missense_Mutation_p.P53Q|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000454319.1_Missense_Mutation_p.P53Q	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P52Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GATCACATTTGGTTTAGAAAT	0.423																																					p.P52Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155A	19						.						184.0	176.0	179.0					19																	36963890		2203	4300	6503	41655730	SO:0001583	missense	84924	exon4			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.155C>A	19.37:g.36963890G>T	ENSP00000415520:p.Pro52Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41655730	NM_001145344	B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969736	0.74246	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.00986	5.47;5.47;5.47;5.47;5.47;5.47	4.77	4.77	0.60923	Krueppel-associated box (3);	0.000000	0.31760	N	0.007116	T	0.06050	0.0157	M	0.88775	2.98	0.27905	N	0.93881	P;D	0.76494	0.539;0.999	B;D	0.65233	0.135;0.933	T	0.01553	-1.1326	10	0.66056	D	0.02	.	13.1499	0.59484	0.0:0.0:1.0:0.0	.	53;52	B7ZL95;Q969W8	.;ZN566_HUMAN	Q	53;52;53;52;52;53	ENSP00000394207:P53Q;ENSP00000415520:P52Q;ENSP00000376010:P53Q;ENSP00000401259:P52Q;ENSP00000411526:P52Q;ENSP00000400651:P53Q	ENSP00000376010:P53Q	P	-	2	0	ZNF566	41655730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.417000	0.59822	2.459000	0.83118	0.650000	0.86243	CCA		0.423	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838	
ZNF529	57711	broad.mit.edu	37	19	37038997	37038997	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37038997G>T	ENST00000591340.1	-	5	621	c.463C>A	c.(463-465)Cat>Aat	p.H155N	ZNF529_ENST00000334116.7_Missense_Mutation_p.H50N	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	155					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.H155N(1)		breast(1)	1	Esophageal squamous(110;0.198)					AGAGATTCATGAGTTTTGTAA	0.388																																					p.H155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463A	19						.						129.0	116.0	120.0					19																	37038997		1855	4096	5951	41730837	SO:0001583	missense	57711	exon6			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.463C>A	19.37:g.37038997G>T	ENSP00000465578:p.His155Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41730837	NM_001145649	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	G	6.097	0.386182	0.11524	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.9	-3.14	0.05250	.	.	.	.	.	T	0.11324	0.0276	N	0.04787	-0.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28299	-1.0048	8	0.09590	T	0.72	.	0.5337	0.00633	0.2599:0.1298:0.2144:0.3959	.	50;122	Q6P280-2;Q6P280	.;ZN529_HUMAN	N	155	.	ENSP00000334695:H155N	H	-	1	0	ZNF529	41730837	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.643000	0.05421	-0.713000	0.04981	-0.282000	0.10007	CAT		0.388	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951	
ZNF382	84911	broad.mit.edu	37	19	37101595	37101595	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37101595A>G	ENST00000292928.2	+	4	296	c.183A>G	c.(181-183)caA>caG	p.Q61Q	ZNF382_ENST00000423582.1_Silent_p.Q12Q|ZNF382_ENST00000439428.1_Silent_p.Q60Q|ZNF382_ENST00000435416.1_Silent_p.Q61Q	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.|Mediates interaction with TRIM28. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q61Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTTGGAACAAGGAGAAGAGC	0.383																																					p.Q61Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A183G	19						.						125.0	116.0	119.0					19																	37101595		2203	4300	6503	41793435	SO:0001819	synonymous_variant	84911	exon4			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.183A>G	19.37:g.37101595A>G		Somatic		Capture	Illumina HiSeq	Phase_I	41793435	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	CCDS33004.1																																																																																				0.383	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ODF3L2	284451	broad.mit.edu	37	19	467682	467682	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:467682C>T	ENST00000315489.4	-	3	551	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A70T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	106						cytoplasmic microtubule (GO:0005881)		p.A106T(1)		large_intestine(1)|lung(2)	3						ATGGAGTAGGCAGGGGTGCAG	0.647																																					p.A106T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	19						.						95.0	104.0	101.0					19																	467682		2203	4300	6503	418682	SO:0001583	missense	284451	exon3			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.316G>A	19.37:g.467682C>T	ENSP00000318029:p.Ala106Thr	Somatic		Capture	Illumina HiSeq	Phase_I	418682	NM_182577	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176471	0.78564	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	D;T	0.89939	-2.59;0.54	3.9	3.9	0.45041	.	0.194821	0.44097	D	0.000488	D	0.91456	0.7303	L	0.58101	1.795	0.39460	D	0.967553	D;D	0.61080	0.989;0.987	P;D	0.63381	0.889;0.914	D	0.91907	0.5536	10	0.54805	T	0.06	-29.2069	11.4082	0.49911	0.0:1.0:0.0:0.0	.	70;106	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	106;70	ENSP00000318029:A106T;ENSP00000372143:A70T	ENSP00000318029:A106T	A	-	1	0	ODF3L2	418682	0.996000	0.38824	0.998000	0.56505	0.947000	0.59692	2.371000	0.44248	1.713000	0.51359	0.550000	0.68814	GCC		0.647	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
ZNF461	92283	broad.mit.edu	37	19	37129844	37129844	+	Missense_Mutation	SNP	G	G	A	rs375994789		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37129844G>A	ENST00000588268.1	-	6	1630	c.1403C>T	c.(1402-1404)cCt>cTt	p.P468L	ZNF461_ENST00000360357.4_Missense_Mutation_p.P445L|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P468L(1)|p.P341L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCATTCATGAGGTTTCTCACC	0.388																																					p.P468L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1403T	19						.	G	LEU/PRO	0,4402		0,0,2201	53.0	57.0	55.0		1403	3.3	1.0	19		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF461	NM_153257.2	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	468/564	37129844	1,12999	2201	4299	6500	41821684	SO:0001583	missense	92283	exon6			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1403C>T	19.37:g.37129844G>A	ENSP00000467931:p.Pro468Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41821684	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322139	0.60634	0.0	1.16E-4	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	T	0.27557	1.66	3.33	3.33	0.38152	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54127	0.1839	M	0.74881	2.28	0.47374	D	0.999406	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.97110	0.858;1.0;0.901	T	0.60652	-0.7221	9	0.62326	D	0.03	.	13.8925	0.63747	0.0:0.0:1.0:0.0	.	445;390;468	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	L	468;199;445;341;162	ENSP00000353515:P445L	ENSP00000353515:P445L	P	-	2	0	ZNF461	41821684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.147000	0.50639	1.846000	0.53633	0.491000	0.48974	CCT		0.388	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
ZNF345	25850	broad.mit.edu	37	19	37368733	37368733	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37368733G>T	ENST00000529555.1	+	2	1789	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I	ZNF345_ENST00000420450.1_Missense_Mutation_p.R334I|ZNF345_ENST00000589046.1_Missense_Mutation_p.R334I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	334					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R334I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAAAGAATGCATACT	0.408																																					p.R334I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1001T	19						.						71.0	77.0	75.0					19																	37368733		2203	4300	6503	42060573	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1001G>T	19.37:g.37368733G>T	ENSP00000431202:p.Arg334Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42060573	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199663	0.38905	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.02446	4.29;4.29	3.8	3.8	0.43715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.48877	1.53	0.38566	D	0.949823	D	0.56521	0.976	P	0.48677	0.586	T	0.33904	-0.9850	9	0.87932	D	0	.	8.8822	0.35380	0.0:0.0:0.7767:0.2233	.	334	Q14585	ZN345_HUMAN	I	334;334;98	ENSP00000431216:R334I;ENSP00000431202:R334I	ENSP00000442320:R98I	R	+	2	0	ZNF345	42060573	0.005000	0.15991	1.000000	0.80357	0.887000	0.51463	1.437000	0.34991	2.092000	0.63282	0.462000	0.41574	AGA		0.408	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF829	374899	broad.mit.edu	37	19	37382578	37382578	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37382578C>A	ENST00000391711.3	-	6	1479	c.1115G>T	c.(1114-1116)aGa>aTa	p.R372I	ZNF829_ENST00000520965.1_Missense_Mutation_p.R453I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	372					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.R372I(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGGATTCTCTGATGTTG	0.378																																					p.R372I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115T	19						.						72.0	76.0	75.0					19																	37382578		2195	4297	6492	42074418	SO:0001583	missense	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1115G>T	19.37:g.37382578C>A	ENSP00000429266:p.Arg372Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42074418	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092800	0.56075	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.24908	1.83	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27933	0.0688	M	0.62016	1.91	0.38988	D	0.959097	B	0.34329	0.449	B	0.33339	0.162	T	0.40776	-0.9545	9	0.62326	D	0.03	.	13.9795	0.64295	0.0:1.0:0.0:0.0	.	372	Q3KNS6	ZN829_HUMAN	I	372	ENSP00000429266:R372I	ENSP00000429266:R372I	R	-	2	0	ZNF829	42074418	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.154000	0.10130	2.011000	0.59026	0.557000	0.71058	AGA		0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF585A	199704	broad.mit.edu	37	19	37642889	37642889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37642889C>T	ENST00000356958.4	-	5	2170	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E583K|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E583K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E583K(2)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCGCACTCGGCACACACA	0.498																																					p.E583K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1747A	19						.						61.0	59.0	60.0					19																	37642889		2203	4300	6503	42334729	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1912G>A	19.37:g.37642889C>T	ENSP00000349440:p.Glu638Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42334729	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	15.14	2.746497	0.49257	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.35605	1.3;1.3;1.3	3.21	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257891	0.21159	N	0.079196	T	0.22627	0.0546	.	.	.	0.09310	N	1	P	0.42620	0.785	B	0.36030	0.216	T	0.11397	-1.0589	9	0.52906	T	0.07	.	6.0379	0.19718	0.0:0.6948:0.192:0.1131	.	638	Q6P3V2	Z585A_HUMAN	K	638;583;583	ENSP00000349440:E638K;ENSP00000292841:E583K;ENSP00000375998:E583K	ENSP00000292841:E583K	E	-	1	0	ZNF585A	42334729	0.000000	0.05858	0.215000	0.23724	0.992000	0.81027	0.106000	0.15354	0.670000	0.31165	0.655000	0.94253	GAG		0.498	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	broad.mit.edu	37	19	37643428	37643428	+	Missense_Mutation	SNP	C	C	T	rs374536603		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37643428C>T	ENST00000356958.4	-	5	1631	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R403Q|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R403Q			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R403Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGTGAATTCGTTTATGAAC	0.398																																					p.R403Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1208A	19						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	118.0	119.0		1208,1208	2.7	0.7	19		119	0,8600		0,0,4300	no	missense,missense	ZNF585A	NM_152655.2,NM_199126.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	403/715,403/715	37643428	1,13005	2203	4300	6503	42335268	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1373G>A	19.37:g.37643428C>T	ENSP00000349440:p.Arg458Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42335268	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	13.39	2.222711	0.39300	2.27E-4	0.0	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.24723	1.84;1.84;1.84	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30930	N	0.008596	T	0.25195	0.0612	N	0.10837	0.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.08146	-1.0736	10	0.62326	D	0.03	.	5.6043	0.17371	0.0:0.8425:0.0:0.1575	.	458	Q6P3V2	Z585A_HUMAN	Q	458;403;403	ENSP00000349440:R458Q;ENSP00000292841:R403Q;ENSP00000375998:R403Q	ENSP00000292841:R403Q	R	-	2	0	ZNF585A	42335268	0.000000	0.05858	0.715000	0.30552	0.847000	0.48162	0.141000	0.16076	1.517000	0.48917	0.561000	0.74099	CGA		0.398	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	broad.mit.edu	37	19	37643935	37643935	+	Missense_Mutation	SNP	C	C	T	rs368991030		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37643935C>T	ENST00000356958.4	-	5	1124	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R234Q|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R234Q|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R234Q			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R234Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAATTCTTCGGTGTGCAAT	0.428																																					p.R234Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701A	19						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	238.0	222.0	227.0		701,701	0.9	1.0	19		227	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF585A	NM_152655.2,NM_199126.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	234/715,234/715	37643935	1,13005	2203	4300	6503	42335775	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.866G>A	19.37:g.37643935C>T	ENSP00000349440:p.Arg289Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42335775	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757467	0.03019	0.0	1.16E-4	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	3.06	0.872	0.19113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30723	N	0.009001	T	0.04137	0.0115	N	0.02412	-0.56	0.25530	N	0.98729	B	0.24186	0.099	B	0.21917	0.037	T	0.42050	-0.9474	10	0.02654	T	1	.	4.6809	0.12734	0.0:0.5832:0.0:0.4168	.	289	Q6P3V2	Z585A_HUMAN	Q	289;234;234;234	ENSP00000349440:R289Q;ENSP00000292841:R234Q;ENSP00000375998:R234Q;ENSP00000347724:R234Q	ENSP00000292841:R234Q	R	-	2	0	ZNF585A	42335775	0.000000	0.05858	0.988000	0.46212	0.176000	0.22953	-1.416000	0.02467	0.608000	0.30000	-0.291000	0.09656	CGA		0.428	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF569	148266	broad.mit.edu	37	19	37904509	37904509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:37904509C>A	ENST00000316950.6	-	6	1608	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.E351*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.E192*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	351					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.E351*(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGTTTTTCTCCTGTATGA	0.368																																					p.E351X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1051T	19						.						90.0	88.0	89.0					19																	37904509		2203	4300	6503	42596349	SO:0001587	stop_gained	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1051G>T	19.37:g.37904509C>A	ENSP00000325018:p.Glu351*	Somatic		Capture	Illumina HiSeq	Phase_I	42596349	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Nonsense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	41	8.827450	0.98968	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	.	.	.	3.97	3.97	0.46021	.	0.000000	0.38663	N	0.001605	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.5912	0.45310	0.0:0.6717:0.3283:0.0	.	.	.	.	X	351;7;192	.	ENSP00000325018:E351X	E	-	1	0	ZNF569	42596349	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.494000	0.66905	2.204000	0.70986	0.655000	0.94253	GAA		0.368	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF540	163255	broad.mit.edu	37	19	38103541	38103541	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:38103541C>A	ENST00000592533.1	+	5	1692	c.1360C>A	c.(1360-1362)Ctt>Att	p.L454I	ZNF540_ENST00000589117.1_Missense_Mutation_p.L422I|ZNF540_ENST00000343599.5_Missense_Mutation_p.L454I|ZNF540_ENST00000316433.4_Missense_Mutation_p.L454I	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	454					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.L454I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGTTCAGTCCTTACTGAACA	0.403																																					p.L454I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1360A	19						.						84.0	81.0	82.0					19																	38103541		2203	4300	6503	42795381	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1360C>A	19.37:g.38103541C>A	ENSP00000466274:p.Leu454Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42795381	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754189	0.49362	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.53857	0.6	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72407	0.3456	M	0.90870	3.155	0.09310	N	1	P;D	0.53462	0.951;0.96	P;D	0.63381	0.817;0.914	T	0.60125	-0.7324	9	0.87932	D	0	.	6.9541	0.24562	0.0:0.8485:0.0:0.1515	.	422;454	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	I	454;422	ENSP00000324598:L454I	ENSP00000324598:L454I	L	+	1	0	ZNF540	42795381	0.000000	0.05858	0.007000	0.13788	0.946000	0.59487	-0.752000	0.04797	1.274000	0.44362	0.305000	0.20034	CTT		0.403	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
SH3GL1	6455	broad.mit.edu	37	19	4363771	4363771	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:4363771G>A	ENST00000269886.3	-	6	748	c.570C>T	c.(568-570)ttC>ttT	p.F190F	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.F126F|SH3GL1_ENST00000417295.2_Silent_p.F142F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	190	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.F190F(1)		NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TGGACTCCTCGAACTTCTCCA	0.582			T	MLL	AL																																p.F190F	NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C570T	19						.						83.0	79.0	80.0					19																	4363771		2203	4300	6503	4314771	SO:0001819	synonymous_variant	6455	exon6				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.570C>T	19.37:g.4363771G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4314771	NM_003025	B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	CCDS32874.1																																																																																				0.582	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025	
ZFP30	22835	broad.mit.edu	37	19	38126321	38126321	+	Missense_Mutation	SNP	C	C	A	rs541723751		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:38126321C>A	ENST00000351218.2	-	6	1678	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.R374I|ZFP30_ENST00000392144.1_Missense_Mutation_p.R374I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R374I(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGTATTCTCTGATGGAG	0.408																																					p.R374I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121T	19						.						69.0	72.0	71.0					19																	38126321		2203	4300	6503	42818161	SO:0001583	missense	22835	exon6			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1121G>T	19.37:g.38126321C>A	ENSP00000343581:p.Arg374Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42818161	NM_014898	Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188535	0.57909	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.24908	1.83;1.83;1.83	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001838	T	0.47469	0.1447	M	0.73217	2.22	0.44652	D	0.997634	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.46992	-0.9151	10	0.54805	T	0.06	.	11.7606	0.51900	0.0:0.82:0.18:0.0	.	374;374	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	I	374;374;374;289	ENSP00000343581:R374I;ENSP00000422930:R374I;ENSP00000375988:R374I	ENSP00000343581:R374I	R	-	2	0	ZFP30	42818161	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.472000	0.22116	2.175000	0.68902	0.591000	0.81541	AGA		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898	
CHAF1A	10036	broad.mit.edu	37	19	4429561	4429561	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:4429561G>T	ENST00000301280.5	+	9	1832	c.1731G>T	c.(1729-1731)aaG>aaT	p.K577N	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	577					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.K577N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAATAAGAAGACGGCACTCA	0.632								Chromatin Structure																													p.K577N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1731T	19						.						84.0	79.0	81.0					19																	4429561		2203	4300	6503	4380561	SO:0001583	missense	10036	exon9			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1731G>T	19.37:g.4429561G>T	ENSP00000301280:p.Lys577Asn	Somatic		Capture	Illumina HiSeq	Phase_I	4380561	NM_005483	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869282	0.32977	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.17213	2.29	5.36	0.689	0.18033	.	.	.	.	.	T	0.27663	0.0680	L	0.55834	1.745	0.53688	D	0.999977	D	0.63046	0.992	P	0.62649	0.905	T	0.04607	-1.0939	9	0.87932	D	0	-11.441	5.8011	0.18414	0.3187:0.1346:0.5467:0.0	.	577	Q13111	CAF1A_HUMAN	N	577	ENSP00000301280:K577N	ENSP00000301280:K577N	K	+	3	2	CHAF1A	4380561	0.972000	0.33761	0.030000	0.17652	0.005000	0.04900	0.741000	0.26202	0.225000	0.20959	0.585000	0.79938	AAG		0.632	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
LRG1	116844	broad.mit.edu	37	19	4538114	4538114	+	Silent	SNP	G	G	A	rs139158572		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:4538114G>A	ENST00000306390.6	-	2	1342	c.882C>T	c.(880-882)ttC>ttT	p.F294F	LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000586133.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000381848.3_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	294					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.F294F(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAGATGTCGAAGCCATCCC	0.577																																					p.F294F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	19						.	G		1,4405		0,1,2202	83.0	73.0	77.0		882	-10.5	0.0	19	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	LRG1	NM_052972.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		294/348	4538114	1,13005	2203	4300	6503	4489114	SO:0001819	synonymous_variant	116844	exon2				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.882C>T	19.37:g.4538114G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4489114	NM_052972	Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	CCDS12130.1																																																																																				0.577	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972	
GGN	199720	broad.mit.edu	37	19	38876254	38876254	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:38876254C>T	ENST00000334928.6	-	3	1780	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	550	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.E550K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTAGCTCGTTCGCGAGGACCA	0.687																																					p.E550K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1648A	19						.						48.0	44.0	45.0					19																	38876254		2203	4300	6503	43568094	SO:0001583	missense	199720	exon3			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1648G>A	19.37:g.38876254C>T	ENSP00000334940:p.Glu550Lys	Somatic		Capture	Illumina HiSeq	Phase_I	43568094	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451545	0.63290	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.57	2.48	0.30137	.	0.555485	0.14872	N	0.293502	T	0.16257	0.0391	L	0.27053	0.805	0.09310	N	1	P	0.42456	0.78	B	0.28553	0.091	T	0.09143	-1.0688	9	0.66056	D	0.02	0.0	8.509	0.33206	0.0:0.7608:0.2392:0.0	.	550	Q86UU5	GGN_HUMAN	K	550	.	ENSP00000334940:E550K	E	-	1	0	GGN	43568094	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.275000	0.08525	0.649000	0.30751	0.455000	0.32223	GAA		0.687	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
DYRK1B	9149	broad.mit.edu	37	19	40319017	40319017	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:40319017C>T	ENST00000593685.1	-	6	1195	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	DYRK1B_ENST00000597639.1_Missense_Mutation_p.E243K|DYRK1B_ENST00000323039.5_Missense_Mutation_p.E243K|DYRK1B_ENST00000430012.2_Missense_Mutation_p.E243K|DYRK1B_ENST00000348817.3_Missense_Mutation_p.E243K			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.E243K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AAGATGTTTTCGGGCTTGAGG	0.627																																					p.E243K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727A	19						.						67.0	57.0	60.0					19																	40319017		2203	4300	6503	45010857	SO:0001583	missense	9149	exon6			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.727G>A	19.37:g.40319017C>T	ENSP00000469863:p.Glu243Lys	Somatic		Capture	Illumina HiSeq	Phase_I	45010857	NM_006483	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494401	0.96339	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.25579	1.79;1.79;1.79	5.95	5.95	0.96441	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	0.61800	0.2376	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68985	-0.5265	10	0.87932	D	0	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	243;243;243	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	K	243	ENSP00000312789:E243K;ENSP00000221803:E243K;ENSP00000403182:E243K	ENSP00000312789:E243K	E	-	1	0	DYRK1B	45010857	1.000000	0.71417	0.976000	0.42696	0.864000	0.49448	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GAA		0.627	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
FCGBP	8857	broad.mit.edu	37	19	40395994	40395994	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:40395994C>T	ENST00000221347.6	-	15	7410	c.7403G>A	c.(7402-7404)cGc>cAc	p.R2468H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2468	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.R2468H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAGTCGAAGCGGCGGCCATC	0.672																																					p.R2468H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7403A	19						.						117.0	85.0	97.0					19																	40395994		2181	3910	6091	45087834	SO:0001583	missense	8857	exon15			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7403G>A	19.37:g.40395994C>T	ENSP00000221347:p.Arg2468His	Somatic		Capture	Illumina HiSeq	Phase_I	45087834	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156880	0.21454	.	.	ENSG00000090920	ENST00000221347	T	0.60424	0.19	3.44	-4.59	0.03400	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.28067	0.0692	N	0.17901	0.54	0.09310	N	1	P	0.42973	0.796	B	0.37508	0.252	T	0.29579	-1.0007	9	0.18276	T	0.48	.	0.6927	0.00894	0.2604:0.3247:0.1224:0.2926	.	2468	Q9Y6R7	FCGBP_HUMAN	H	2468	ENSP00000221347:R2468H	ENSP00000221347:R2468H	R	-	2	0	FCGBP	45087834	0.000000	0.05858	0.053000	0.19242	0.892000	0.51952	-1.092000	0.03366	-0.233000	0.09797	-0.708000	0.03648	CGC		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
ZNF546	339327	broad.mit.edu	37	19	40520193	40520193	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:40520193G>T	ENST00000347077.4	+	7	1232	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	ZNF546_ENST00000600094.1_Missense_Mutation_p.R313I|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R339I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGCCTTTAGACTTCATTAT	0.398																																					p.R339I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016T	19						.						93.0	97.0	96.0					19																	40520193		2203	4300	6503	45212033	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1016G>T	19.37:g.40520193G>T	ENSP00000339823:p.Arg339Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45212033	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	5.194	0.221292	0.09863	.	.	ENSG00000187187	ENST00000347077	T	0.08008	3.14	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12817	0.0311	L	0.28649	0.875	0.34732	D	0.729827	P;D	0.71674	0.46;0.998	B;D	0.65874	0.028;0.939	T	0.23547	-1.0185	9	0.19147	T	0.46	.	8.8662	0.35286	0.0:0.0:1.0:0.0	.	313;339	B3KVL3;Q86UE3	.;ZN546_HUMAN	I	339	ENSP00000339823:R339I	ENSP00000339823:R339I	R	+	2	0	ZNF546	45212033	0.000000	0.05858	0.512000	0.27736	0.999000	0.98932	-3.265000	0.00534	1.741000	0.51731	0.655000	0.94253	AGA		0.398	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520466	40520466	+	Missense_Mutation	SNP	G	G	A	rs141787466	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:40520466G>A	ENST00000347077.4	+	7	1505	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.R404Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R430Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAACTTGCTCGACATCGTAGA	0.393													G|||	5	0.000998403	0.0	0.0	5008	,	,		23231	0.005		0.0	False		,,,				2504	0.0				p.R430Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289A	19						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	51.0	50.0		1289	0.9	0.2	19	dbSNP_134	50	3,8595	3.0+/-9.4	0,3,4296	no	missense	ZNF546	NM_178544.3	43	0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	430/837	40520466	4,13000	2203	4299	6502	45212306	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1289G>A	19.37:g.40520466G>A	ENSP00000339823:p.Arg430Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45212306	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	1.499	-0.552606	0.03996	2.27E-4	3.49E-4	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07216	3.21	2.69	0.862	0.19056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	L	0.41710	1.295	0.09310	N	1	P;B	0.37997	0.614;0.29	B;B	0.33890	0.172;0.008	T	0.37686	-0.9695	9	0.12430	T	0.62	.	6.0914	0.19997	0.2621:0.0:0.7379:0.0	.	404;430	B3KVL3;Q86UE3	.;ZN546_HUMAN	Q	430;67	ENSP00000339823:R430Q	ENSP00000339823:R430Q	R	+	2	0	ZNF546	45212306	0.000000	0.05858	0.206000	0.23566	0.968000	0.65278	-3.635000	0.00408	0.272000	0.22027	0.655000	0.94253	CGA		0.393	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF780B	163131	broad.mit.edu	37	19	40541892	40541892	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:40541892G>T	ENST00000434248.1	-	5	939	c.874C>A	c.(874-876)Ctt>Att	p.L292I	ZNF780B_ENST00000221355.6_Missense_Mutation_p.L144I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L292I(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGCTGAATAAGATTTGAACCA	0.378																																					p.L292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874A	19						.						112.0	117.0	116.0					19																	40541892		2203	4300	6503	45233732	SO:0001583	missense	163131	exon5			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.874C>A	19.37:g.40541892G>T	ENSP00000391641:p.Leu292Ile	Somatic		Capture	Illumina HiSeq	Phase_I	45233732	NM_001005851	B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655660	0.67586	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.74947	-0.89;-0.89	2.21	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86222	0.5881	M	0.91196	3.185	0.09310	N	1	D	0.69078	0.997	D	0.87578	0.998	T	0.73433	-0.3984	9	0.72032	D	0.01	.	6.0761	0.19915	0.1755:0.0:0.8245:0.0	.	292	Q9Y6R6	Z780B_HUMAN	I	292;144	ENSP00000391641:L292I;ENSP00000221355:L144I	ENSP00000221355:L144I	L	-	1	0	ZNF780B	45233732	0.001000	0.12720	0.001000	0.08648	0.943000	0.58893	0.656000	0.24948	0.122000	0.18314	0.313000	0.20887	CTT		0.378	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
AKT2	208	broad.mit.edu	37	19	40748466	40748466	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:40748466G>A	ENST00000392038.2	-	5	714	c.416C>T	c.(415-417)gCg>gTg	p.A139V	AKT2_ENST00000424901.1_Missense_Mutation_p.A139V|AKT2_ENST00000579047.1_Missense_Mutation_p.A77V|AKT2_ENST00000311278.6_Missense_Mutation_p.A139V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	139					activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.A139V(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTTGCTGACCGCCACTTCCAT	0.662			A		"""ovarian, pancreatic """																																p.A139V			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	19						.						96.0	90.0	92.0					19																	40748466		2203	4300	6503	45440306	SO:0001583	missense	208	exon5			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.416C>T	19.37:g.40748466G>A	ENSP00000375892:p.Ala139Val	Somatic		Capture	Illumina HiSeq	Phase_I	45440306	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465703	0.63513	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000537834	T;T;T	0.38240	1.15;1.15;1.15	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.53249	1.67	0.58432	D	0.999999	B;B;B;B	0.22746	0.074;0.004;0.016;0.005	B;B;B;B	0.17098	0.017;0.002;0.004;0.004	T	0.07693	-1.0759	10	0.32370	T	0.25	.	18.8083	0.92047	0.0:0.0:1.0:0.0	.	139;77;139;139	B7Z8Z9;B4DG79;Q0VAN0;P31751	.;.;.;AKT2_HUMAN	V	139;40;139;139;139	ENSP00000375892:A139V;ENSP00000399532:A139V;ENSP00000309428:A139V	ENSP00000309428:A139V	A	-	2	0	AKT2	45440306	0.992000	0.36948	0.989000	0.46669	0.959000	0.62525	4.625000	0.61262	2.735000	0.93741	0.563000	0.77884	GCG		0.662	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
SHKBP1	92799	broad.mit.edu	37	19	41083523	41083523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:41083523G>T	ENST00000291842.5	+	4	296	c.247G>T	c.(247-249)Gag>Tag	p.E83*	SHKBP1_ENST00000600733.1_Nonsense_Mutation_p.E83*	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.E83*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCACCAAAGAGTTGGATCC	0.562																																					p.E83X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G247T	19						.						131.0	123.0	126.0					19																	41083523		2203	4300	6503	45775363	SO:0001587	stop_gained	92799	exon4			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.247G>T	19.37:g.41083523G>T	ENSP00000291842:p.Glu83*	Somatic		Capture	Illumina HiSeq	Phase_I	45775363	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Nonsense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	38	6.719324	0.97788	.	.	ENSG00000160410	ENST00000291842	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-2.0382	16.665	0.85250	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000291842:E83X	E	+	1	0	SHKBP1	45775363	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.693000	0.91288	2.229000	0.72834	0.289000	0.19496	GAG		0.562	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	
CYP2A7	1549	broad.mit.edu	37	19	41386463	41386463	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:41386463G>A	ENST00000301146.4	-	3	955	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.F87F	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	138						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.F138F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCCCACCCCGAAGTCCCTCA	0.672																																					p.F138F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	19						.						32.0	28.0	30.0					19																	41386463		2200	4288	6488	46078303	SO:0001819	synonymous_variant	1549	exon3			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.414C>T	19.37:g.41386463G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46078303	NM_000764	Q13121	Silent	SNP	ENST00000301146.4	37	CCDS12569.1																																																																																				0.672	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
AXL	558	broad.mit.edu	37	19	41727091	41727091	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:41727091T>C	ENST00000301178.4	+	3	539	c.349T>C	c.(349-351)Tgt>Cgt	p.C117R	AXL_ENST00000359092.3_Missense_Mutation_p.C117R|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	117	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C117R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACAGTACCAGTGTTTGGTGTT	0.597																																					p.C117R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T349C	19						.						158.0	126.0	137.0					19																	41727091		2203	4300	6503	46418931	SO:0001583	missense	558	exon3			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.349T>C	19.37:g.41727091T>C	ENSP00000301178:p.Cys117Arg	Somatic		Capture	Illumina HiSeq	Phase_I	46418931	NM_021913	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796127	0.50208	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.38560	1.13;1.13	4.74	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81673	-0.0826	10	0.87932	D	0	-10.8913	11.8273	0.52275	0.0:0.0:0.0:1.0	.	117;117	P30530-2;P30530	.;UFO_HUMAN	R	117	ENSP00000301178:C117R;ENSP00000351995:C117R	ENSP00000301178:C117R	C	+	1	0	AXL	46418931	1.000000	0.71417	0.984000	0.44739	0.323000	0.28346	3.728000	0.54991	1.792000	0.52537	0.254000	0.18369	TGT		0.597	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
AXL	558	broad.mit.edu	37	19	41762440	41762440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:41762440G>A	ENST00000301178.4	+	18	2310	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H	AXL_ENST00000359092.3_Missense_Mutation_p.R698H|AXL_ENST00000593513.1_Missense_Mutation_p.R439H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R698H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CGCCAGGGACGTATCGCCAAG	0.542																																					p.R707H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2120A	19						.						233.0	179.0	197.0					19																	41762440		2203	4300	6503	46454280	SO:0001583	missense	558	exon18			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2120G>A	19.37:g.41762440G>A	ENSP00000301178:p.Arg707His	Somatic		Capture	Illumina HiSeq	Phase_I	46454280	NM_021913	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867848	0.72065	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.82893	-1.66;-1.66	4.49	3.46	0.39613	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	L	0.35644	1.08	0.37664	D	0.922873	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	D	0.87212	0.2248	10	0.59425	D	0.04	-10.5149	11.5452	0.50690	0.0899:0.0:0.9101:0.0	.	698;707	P30530-2;P30530	.;UFO_HUMAN	H	707;698	ENSP00000301178:R707H;ENSP00000351995:R698H	ENSP00000301178:R707H	R	+	2	0	AXL	46454280	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.348000	0.73009	1.234000	0.43709	0.591000	0.81541	CGT		0.542	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
CEACAM7	1087	broad.mit.edu	37	19	42191097	42191097	+	Silent	SNP	G	G	A	rs147314898		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:42191097G>A	ENST00000006724.3	-	2	321	c.120C>T	c.(118-120)gtC>gtT	p.V40V	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Silent_p.V40V|CEACAM7_ENST00000602225.1_Silent_p.V40V|CEACAM7_ENST00000401731.1_Silent_p.V40V	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	40	Ig-like V-type.			V -> G (in Ref. 3; AAB62924/AAB62925). {ECO:0000305}.		anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V40V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGAACGGCACGACATCAATAT	0.478																																					p.V40V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	102.0	100.0	101.0		120	-3.4	0.0	19	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEACAM7	NM_006890.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		40/266	42191097	2,13004	2203	4300	6503	46882937	SO:0001819	synonymous_variant	1087	exon2			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.120C>T	19.37:g.42191097G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46882937	NM_006890	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	CCDS12583.1																																																																																				0.478	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	
ARHGEF1	9138	broad.mit.edu	37	19	42392337	42392337	+	Missense_Mutation	SNP	C	C	G	rs41306984		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:42392337C>G	ENST00000354532.3	+	3	247	c.99C>G	c.(97-99)aaC>aaG	p.N33K	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.N48K|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.N33K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.N48K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.N33K|ARHGEF1_ENST00000596957.1_Intron	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	33					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N48K(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ATTTTGAGAACGAGCTGGAGA	0.622																																					p.N33K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C99G	19						.						137.0	151.0	146.0					19																	42392337		2203	4300	6503	47084177	SO:0001583	missense	9138	exon3			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.99C>G	19.37:g.42392337C>G	ENSP00000346532:p.Asn33Lys	Somatic		Capture	Illumina HiSeq	Phase_I	47084177	NM_198977	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	c	12.85	2.061265	0.36373	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.65549	-0.01;0.01;-0.02;-0.16	3.61	-2.86	0.05717	.	0.299224	0.22153	U	0.063898	T	0.48077	0.1480	N	0.24115	0.695	0.37160	D	0.902532	P;P;P;P;D	0.58268	0.858;0.759;0.524;0.646;0.982	B;P;B;B;P	0.49012	0.251;0.525;0.14;0.197;0.598	T	0.53892	-0.8374	10	0.59425	D	0.04	-0.6499	8.7854	0.34818	0.0:0.5137:0.0:0.4863	.	48;48;33;33;93	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	K	33;33;69;48;48	ENSP00000346532:N33K;ENSP00000344429:N33K;ENSP00000337261:N48K;ENSP00000367394:N48K	ENSP00000323044:N69K	N	+	3	2	ARHGEF1	47084177	0.237000	0.23815	0.991000	0.47740	0.963000	0.63663	-1.131000	0.03238	-0.447000	0.07138	0.448000	0.29417	AAC		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	
TMEM145	284339	broad.mit.edu	37	19	42819171	42819171	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:42819171G>T	ENST00000301204.3	+	6	488	c.447G>T	c.(445-447)gaG>gaT	p.E149D	TMEM145_ENST00000598766.1_Missense_Mutation_p.E173D	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	149					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.E149D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGGAGTATGAGATGGTCCTCA	0.582																																					p.E149D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	19						.						121.0	102.0	109.0					19																	42819171		2203	4300	6503	47511011	SO:0001583	missense	284339	exon6			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.447G>T	19.37:g.42819171G>T	ENSP00000301204:p.Glu149Asp	Somatic		Capture	Illumina HiSeq	Phase_I	47511011	NM_173633		Missense_Mutation	SNP	ENST00000301204.3	37	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221271	0.58560	.	.	ENSG00000167619	ENST00000301204	T	0.45276	0.9	4.62	3.57	0.40892	Rhodopsin-like GPCR transmembrane domain (1);	0.147945	0.42053	D	0.000771	T	0.30854	0.0778	L	0.47716	1.5	0.48452	D	0.999651	B	0.33000	0.393	B	0.31016	0.123	T	0.04976	-1.0914	10	0.15499	T	0.54	-15.6867	10.0741	0.42349	0.1002:0.0:0.8998:0.0	.	149	Q8NBT3	TM145_HUMAN	D	149	ENSP00000301204:E149D	ENSP00000301204:E149D	E	+	3	2	TMEM145	47511011	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.122000	0.57910	2.281000	0.76405	0.557000	0.71058	GAG		0.582	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633	
PSG8	440533	broad.mit.edu	37	19	43262189	43262189	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:43262189G>A	ENST00000306511.4	-	3	771	c.674C>T	c.(673-675)gCc>gTc	p.A225V	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.A103V|PSG8_ENST00000404209.4_Missense_Mutation_p.A225V|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	225	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.A225V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTGCGGCTGGCACTCACTGG	0.517																																					p.A103V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308T	19						.						216.0	227.0	223.0					19																	43262189		2203	4296	6499	47954029	SO:0001583	missense	440533	exon2			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.674C>T	19.37:g.43262189G>A	ENSP00000305005:p.Ala225Val	Somatic		Capture	Illumina HiSeq	Phase_I	47954029	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	9.897	1.205715	0.22205	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.12039	2.72;2.72;2.72	1.53	-3.06	0.05379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15696	0.0378	L	0.27944	0.81	0.09310	N	1	P;D;P;P	0.61080	0.823;0.989;0.712;0.755	B;D;P;P	0.69479	0.433;0.964;0.71;0.809	T	0.13335	-1.0513	9	0.33141	T	0.24	.	3.2038	0.06658	0.3256:0.2483:0.4262:0.0	.	103;225;225;225	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	V	225;100;103;37;225	ENSP00000385869:A225V;ENSP00000385081:A103V;ENSP00000305005:A225V	ENSP00000292109:A100V	A	-	2	0	PSG8	47954029	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.841000	0.04359	-0.707000	0.05022	0.298000	0.19748	GCC		0.517	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
ARRDC5	645432	broad.mit.edu	37	19	4896697	4896697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:4896697C>A	ENST00000381781.2	-	2	486	c.487G>T	c.(487-489)Gaa>Taa	p.E163*		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	163								p.E163*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AATGGGGTTTCTTTGTGGAAG	0.507																																					p.E163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G487T	19						.						69.0	64.0	66.0					19																	4896697		1902	4108	6010	4847697	SO:0001587	stop_gained	645432	exon2				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.487G>T	19.37:g.4896697C>A	ENSP00000371200:p.Glu163*	Somatic		Capture	Illumina HiSeq	Phase_I	4847697	NM_001080523		Nonsense_Mutation	SNP	ENST00000381781.2	37	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854725	0.51376	.	.	ENSG00000205784	ENST00000381781	.	.	.	4.37	-1.52	0.08637	.	2.823290	0.01414	N	0.014107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.3196	4.6243	0.12470	0.0:0.4334:0.3146:0.252	.	.	.	.	X	163	.	ENSP00000371200:E163X	E	-	1	0	ARRDC5	4847697	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.170000	0.09897	-0.220000	0.09988	0.579000	0.79373	GAA		0.507	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803	
PSG9	5678	broad.mit.edu	37	19	43762564	43762564	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:43762564G>A	ENST00000270077.3	-	5	1129	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	PSG9_ENST00000596730.1_Missense_Mutation_p.R159C|PSG9_ENST00000244293.7_Missense_Mutation_p.R252C|PSG9_ENST00000593948.1_Missense_Mutation_p.R252C|PSG9_ENST00000418820.2_Missense_Mutation_p.R252C|PSG9_ENST00000443718.3_Missense_Mutation_p.R252C|PSG9_ENST00000291752.5_Missense_Mutation_p.R159C	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	345	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R345C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCTCCTGAACGGTAATAGGTG	0.463																																					p.R345C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1033T	19						.						128.0	158.0	148.0					19																	43762564		2139	4278	6417	48454404	SO:0001583	missense	5678	exon5			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1033C>T	19.37:g.43762564G>A	ENSP00000270077:p.Arg345Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48454404	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	9.701	1.154596	0.21371	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	1.31	1.31	0.21738	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30572	0.0769	M	0.75777	2.31	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;0.994;0.993	D;D;D;D;D;D	0.70487	0.915;0.95;0.95;0.969;0.947;0.922	T	0.04767	-1.0928	9	0.52906	T	0.07	.	5.9486	0.19234	0.0:0.0:1.0:0.0	.	252;201;252;159;345;345	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	C	345;159;252;306;252	ENSP00000270077:R345C;ENSP00000291752:R159C;ENSP00000396753:R252C;ENSP00000244293:R252C	ENSP00000244293:R252C	R	-	1	0	PSG9	48454404	0.000000	0.05858	0.017000	0.16124	0.013000	0.08279	0.031000	0.13710	0.688000	0.31529	0.194000	0.17425	CGT		0.463	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
ZNF283	284349	broad.mit.edu	37	19	44351349	44351349	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44351349G>T	ENST00000324461.7	+	7	893	c.596G>T	c.(595-597)aGa>aTa	p.R199I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R60I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R132I(1)|p.R199I(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CCACATCAAAGAATTCATAAT	0.358																																					p.R199I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G596T	19						.						40.0	42.0	42.0					19																	44351349		1946	4159	6105	49043189	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.596G>T	19.37:g.44351349G>T	ENSP00000327314:p.Arg199Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49043189	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	0.733	-0.779194	0.02929	.	.	ENSG00000167637	ENST00000324461	T	0.18338	2.22	3.37	-0.208	0.13185	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	L	0.43646	1.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	9	0.34782	T	0.22	.	3.083	0.06269	0.2194:0.0:0.418:0.3626	.	199	Q8N7M2	ZN283_HUMAN	I	199	ENSP00000327314:R199I	ENSP00000327314:R199I	R	+	2	0	ZNF283	49043189	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.258000	0.18387	-0.037000	0.13646	-0.270000	0.10280	AGA		0.358	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF283	284349	broad.mit.edu	37	19	44351433	44351433	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44351433G>T	ENST00000324461.7	+	7	977	c.680G>T	c.(679-681)aGa>aTa	p.R227I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R88I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R160I(1)|p.R227I(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACATGAGAGAACTCATACA	0.368																																					p.R227I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G680T	19						.						60.0	66.0	64.0					19																	44351433		2088	4254	6342	49043273	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.680G>T	19.37:g.44351433G>T	ENSP00000327314:p.Arg227Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49043273	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753564	0.31046	.	.	ENSG00000167637	ENST00000324461	T	0.24908	1.83	3.58	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32793	0.0841	L	0.54863	1.705	0.80722	D	1	D	0.59767	0.986	P	0.55087	0.768	T	0.08146	-1.0736	9	0.72032	D	0.01	.	5.6735	0.17735	0.2466:0.0:0.7534:0.0	.	227	Q8N7M2	ZN283_HUMAN	I	227	ENSP00000327314:R227I	ENSP00000327314:R227I	R	+	2	0	ZNF283	49043273	0.000000	0.05858	0.927000	0.36925	0.747000	0.42532	-1.337000	0.02657	0.850000	0.35239	0.563000	0.77884	AGA		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF283	284349	broad.mit.edu	37	19	44351928	44351928	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44351928G>A	ENST00000324461.7	+	7	1472	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.R253Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R392Q(2)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACTTACTCGACATCAGATA	0.373																																					p.R392Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1175A	19						.						96.0	112.0	106.0					19																	44351928		2176	4292	6468	49043768	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1175G>A	19.37:g.44351928G>A	ENSP00000327314:p.Arg392Gln	Somatic		Capture	Illumina HiSeq	Phase_I	49043768	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	A	6.322	0.427599	0.11987	.	.	ENSG00000167637	ENST00000324461	T	0.07216	3.21	2.99	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	L	0.39245	1.2	0.24684	N	0.993349	D	0.57899	0.981	B	0.42188	0.379	T	0.11817	-1.0572	9	0.07644	T	0.81	.	11.252	0.49031	0.0:0.1876:0.8124:0.0	.	392	Q8N7M2	ZN283_HUMAN	Q	392	ENSP00000327314:R392Q	ENSP00000327314:R392Q	R	+	2	0	ZNF283	49043768	0.000000	0.05858	0.962000	0.40283	0.967000	0.64934	-3.375000	0.00493	1.680000	0.50976	0.462000	0.41574	CGA		0.373	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF223	7766	broad.mit.edu	37	19	44570933	44570933	+	Missense_Mutation	SNP	A	A	G	rs201900347		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44570933A>G	ENST00000434772.3	+	5	1207	c.952A>G	c.(952-954)Act>Gct	p.T318A	ZNF223_ENST00000591793.1_Missense_Mutation_p.T428A	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	318				GKKPNSTGEYGK -> AEKLYKSEKYGR (in Ref. 1; AAF04105). {ECO:0000305}.	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.T318A(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ACCAAACAGCACTGGGGAATA	0.428																																					p.T318A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A952G	19						.						118.0	113.0	115.0					19																	44570933		2203	4300	6503	49262773	SO:0001583	missense	7766	exon5			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.952A>G	19.37:g.44570933A>G	ENSP00000401947:p.Thr318Ala	Somatic		Capture	Illumina HiSeq	Phase_I	49262773	NM_013361	Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081138	0.36758	.	.	ENSG00000178386	ENST00000434772	T	0.04706	3.57	2.46	1.39	0.22231	.	.	.	.	.	T	0.03220	0.0094	N	0.17474	0.49	0.54753	D	0.999984	B	0.09022	0.002	B	0.04013	0.001	T	0.43327	-0.9398	9	0.87932	D	0	.	6.5749	0.22560	0.2277:0.0:0.0:0.7723	.	318	Q9UK11	ZN223_HUMAN	A	318	ENSP00000401947:T318A	ENSP00000401947:T318A	T	+	1	0	ZNF223	49262773	0.997000	0.39634	0.004000	0.12327	0.400000	0.30750	2.823000	0.48081	0.169000	0.19679	0.260000	0.18958	ACT		0.428	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2		
ZNF284	342909	broad.mit.edu	37	19	44590092	44590092	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44590092A>C	ENST00000421176.3	+	5	677	c.461A>C	c.(460-462)aAa>aCa	p.K154T	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	154					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.K154T(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AAGTGTAAAAAATTCTTCAGT	0.418																																					p.K154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461C	19						.						60.0	59.0	59.0					19																	44590092		2119	4271	6390	49281932	SO:0001583	missense	342909	exon5			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.461A>C	19.37:g.44590092A>C	ENSP00000411032:p.Lys154Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49281932	NM_001037813	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	A	8.489	0.861623	0.17178	.	.	ENSG00000186026	ENST00000421176	T	0.35789	1.29	2.29	2.29	0.28610	.	.	.	.	.	T	0.38852	0.1056	M	0.80847	2.515	0.09310	N	1	B	0.18166	0.026	B	0.21546	0.035	T	0.43940	-0.9360	9	0.87932	D	0	.	5.5759	0.17222	0.7547:0.0:0.0:0.2453	.	154	Q2VY69	ZN284_HUMAN	T	154	ENSP00000411032:K154T	ENSP00000411032:K154T	K	+	2	0	ZNF284	49281932	0.002000	0.14202	0.001000	0.08648	0.025000	0.11179	1.837000	0.39201	1.034000	0.39945	0.379000	0.24179	AAA		0.418	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
ZNF112	7771	broad.mit.edu	37	19	44844692	44844692	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44844692C>A	ENST00000337401.4	-	3	106	c.18G>T	c.(16-18)gaG>gaT	p.E6D	ZNF112_ENST00000354340.4_5'UTR|ZNF112_ENST00000536500.1_Missense_Mutation_p.E23D|CTC-512J12.6_ENST00000588212.1_Splice_Site	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	6					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.E6D(1)									ATGTCACCATCTCCTACAATG	0.507																																					p.E6D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18T	19						.						194.0	168.0	177.0					19																	44844692		2203	4300	6503	49536532	SO:0001583	missense	7771	exon3			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.18G>T	19.37:g.44844692C>A	ENSP00000337081:p.Glu6Asp	Somatic		Capture	Illumina HiSeq	Phase_I	49536532	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.03|10.03	1.239444|1.239444	0.22711|0.22711	.|.	.|.	ENSG00000062370|ENSG00000062370	ENST00000253426|ENST00000337401;ENST00000412927;ENST00000536500	.|T;T	.|0.00824	.|5.65;5.65	4.0|4.0	-0.729|-0.729	0.11158|0.11158	.|Krueppel-associated box (1);	.|0.000000	.|0.32819	.|N	.|0.005620	.|T	.|0.02571	.|0.0078	M|M	0.67397|0.67397	2.05|2.05	0.22378|0.22378	N|N	0.999158|0.999158	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.61275	.|0.886;0.772	.|T	.|0.32693	.|-0.9897	.|9	.|.	.|.	.|.	.|-25.2763	7.2298|7.2298	0.26036|0.26036	0.0:0.6429:0.0:0.3571|0.0:0.6429:0.0:0.3571	.|.	.|23;6	.|F5GWS7;Q9UJU3	.|.;ZF112_HUMAN	.|D	-1|6;6;23	.|ENSP00000337081:E6D;ENSP00000441990:E23D	.|.	.|E	-|-	.|3	.|2	ZNF285|ZNF285	49536532|49536532	0.030000|0.030000	0.19436|0.19436	0.221000|0.221000	0.23827|0.23827	0.762000|0.762000	0.43233|0.43233	0.048000|0.048000	0.14078|0.14078	-0.105000|-0.105000	0.12132|0.12132	0.557000|0.557000	0.71058|0.71058	.|GAG		0.507	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZNF180	7733	broad.mit.edu	37	19	44981160	44981160	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44981160C>A	ENST00000221327.4	-	5	1819	c.1538G>T	c.(1537-1539)aGa>aTa	p.R513I	ZNF180_ENST00000391956.4_Missense_Mutation_p.R488I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R486I|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	513					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.R513I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGAGC	0.408																																					p.R513I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1538T	19						.						62.0	61.0	61.0					19																	44981160		2203	4300	6503	49673000	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1538G>T	19.37:g.44981160C>A	ENSP00000221327:p.Arg513Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49673000	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120401	0.56613	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.02446	4.29;4.29	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	T	0.07143	0.0181	L	0.49571	1.57	0.80722	D	1	D;D;D	0.59357	0.981;0.985;0.985	P;P;P	0.51701	0.548;0.677;0.677	T	0.03695	-1.1012	10	0.87932	D	0	-27.5646	12.8385	0.57788	0.1635:0.8365:0.0:0.0	.	488;512;513	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	513;488	ENSP00000221327:R513I;ENSP00000375818:R488I	ENSP00000221327:R513I	R	-	2	0	ZNF180	49673000	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.452000	0.21795	2.485000	0.83878	0.467000	0.42956	AGA		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF180	7733	broad.mit.edu	37	19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					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.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448																																					p.R401I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1202T	19						.						66.0	68.0	67.0					19																	44981496		2203	4300	6503	49673336	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1202G>T	19.37:g.44981496C>A	ENSP00000221327:p.Arg401Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49673336	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640143	0.67244	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.56077	0.1961	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66979	0.877;0.948;0.948	T	0.63332	-0.6661	10	0.87932	D	0	-11.7145	17.8877	0.88862	0.0:1.0:0.0:0.0	.	376;400;401	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	401;376	ENSP00000221327:R401I;ENSP00000375818:R376I	ENSP00000221327:R401I	R	-	2	0	ZNF180	49673336	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.735000	0.26115	2.499000	0.84300	0.591000	0.81541	AGA		0.448	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF180	7733	broad.mit.edu	37	19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	373					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.R373I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGTGC	0.433																																					p.R373I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118T	19						.						79.0	79.0	79.0					19																	44981580		2203	4299	6502	49673420	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1118G>T	19.37:g.44981580C>A	ENSP00000221327:p.Arg373Ile	Somatic		Capture	Illumina HiSeq	Phase_I	49673420	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527425	0.64860	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.28	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000322	T	0.44993	0.1320	M	0.73962	2.25	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.991	P;P;P	0.57960	0.82;0.83;0.83	T	0.49790	-0.8902	10	0.87932	D	0	-25.9269	13.6071	0.62054	0.156:0.844:0.0:0.0	.	348;372;373	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	373;348	ENSP00000221327:R373I;ENSP00000375818:R348I	ENSP00000221327:R373I	R	-	2	0	ZNF180	49673420	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-1.112000	0.03299	2.444000	0.82710	0.655000	0.94253	AGA		0.433	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
EXOC3L2	90332	broad.mit.edu	37	19	45728151	45728151	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:45728151G>A	ENST00000252482.3	-	5	452	c.425C>T	c.(424-426)gCc>gTc	p.A142V	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.A142V			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	142					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.A142V(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CCCCACCCGGGCCAGGCGCTC	0.642																																					p.A142V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C425T	19						.						16.0	17.0	17.0					19																	45728151		2202	4294	6496	50419991	SO:0001583	missense	90332	exon6			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.425C>T	19.37:g.45728151G>A	ENSP00000252482:p.Ala142Val	Somatic		Capture	Illumina HiSeq	Phase_I	50419991	NM_138568	Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087440	0.76642	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06449	3.3;3.3	4.7	4.7	0.59300	.	0.906741	0.09548	N	0.787334	T	0.18718	0.0449	L	0.51422	1.61	0.30625	N	0.758097	D	0.64830	0.994	D	0.65233	0.933	T	0.02661	-1.1127	10	0.32370	T	0.25	.	13.4801	0.61330	0.0:0.0:1.0:0.0	.	142	Q2M3D2	EX3L2_HUMAN	V	142	ENSP00000252482:A142V;ENSP00000400713:A142V	ENSP00000252482:A142V	A	-	2	0	EXOC3L2	50419991	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.211000	0.42825	2.324000	0.78689	0.561000	0.74099	GCC		0.642	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568	
ERCC1	2067	broad.mit.edu	37	19	45916925	45916925	+	Intron	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:45916925G>T	ENST00000300853.3	-	9	1435				ERCC1_ENST00000013807.5_Missense_Mutation_p.L285M|ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Intron|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1						cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)	p.L285M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTCTTTCCCAGAGCTCTTACT	0.507								Nucleotide excision repair (NER)																													p.L285M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C853A	19						.						108.0	115.0	113.0					19																	45916925		2203	4300	6503	50608765	SO:0001627	intron_variant	2067	exon8				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.843+9C>A	19.37:g.45916925G>T		Somatic		Capture	Illumina HiSeq	Phase_I	50608765	NM_202001	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715861	0.48622	.	.	ENSG00000012061	ENST00000013807	T	0.71103	-0.54	4.01	-6.73	0.01749	.	0.673695	0.14002	N	0.348063	T	0.46151	0.1378	.	.	.	0.18873	N	0.999988	P	0.35433	0.501	B	0.31245	0.126	T	0.37957	-0.9683	9	0.87932	D	0	-0.0147	1.2995	0.02076	0.3505:0.2444:0.281:0.124	.	285	Q7Z7F5	.	M	285	ENSP00000013807:L285M	ENSP00000013807:L285M	L	-	1	2	ERCC1	50608765	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	-0.505000	0.06367	-1.097000	0.03042	0.650000	0.86243	CTG		0.507	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983	
RTN2	6253	broad.mit.edu	37	19	45998185	45998185	+	Missense_Mutation	SNP	G	G	A	rs556975707		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:45998185G>A	ENST00000245923.4	-	3	393	c.158C>T	c.(157-159)tCg>tTg	p.S53L	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.S53L|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	53					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.S53L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCAGTCCTGCGACGTGGTCTC	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15884	0.0		0.0	False		,,,				2504	0.0				p.S53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	19						.						37.0	38.0	38.0					19																	45998185		2203	4300	6503	50690025	SO:0001583	missense	6253	exon3			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.158C>T	19.37:g.45998185G>A	ENSP00000245923:p.Ser53Leu	Somatic		Capture	Illumina HiSeq	Phase_I	50690025	NM_206900	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030043	0.54790	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.62639	0.06;0.01	5.44	5.44	0.79542	.	0.154984	0.30593	N	0.009283	T	0.45518	0.1346	L	0.29908	0.895	0.80722	D	1	P;P	0.49253	0.876;0.921	B;B	0.31495	0.131;0.103	T	0.56709	-0.7934	10	0.72032	D	0.01	-14.7144	14.7561	0.69567	0.0:0.0:1.0:0.0	.	53;53	O75298-2;O75298	.;RTN2_HUMAN	L	53	ENSP00000345127:S53L;ENSP00000245923:S53L	ENSP00000245923:S53L	S	-	2	0	RTN2	50690025	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	4.076000	0.57591	2.561000	0.86390	0.462000	0.41574	TCG		0.642	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619	
PPM1N	147699	broad.mit.edu	37	19	46005310	46005310	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:46005310G>A	ENST00000451287.2	+	5	1260	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	PPM1N_ENST00000401593.1_Missense_Mutation_p.R92H|PPM1N_ENST00000401705.1_Silent_p.T102T|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396736.2_Missense_Mutation_p.R89H|PPM1N_ENST00000456399.2_Missense_Mutation_p.R82H|PPM1N_ENST00000396737.2_Silent_p.T102T|PPM1N_ENST00000396735.2_Silent_p.T102T	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	420							magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)	p.T420T(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CCAACCCCACGCATTTGGGCT	0.517																																					p.T420T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1260A	19						.						65.0	67.0	66.0					19																	46005310		1941	4136	6077	50697150	SO:0001819	synonymous_variant	147699	exon5			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.1260G>A	19.37:g.46005310G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50697150	NM_001080401	Q6P662	Silent	SNP	ENST00000451287.2	37	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354053	0.41700	.	.	ENSG00000213889	ENST00000456399;ENST00000401593;ENST00000396736	.	.	.	3.22	-0.172	0.13327	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38972	-0.9636	5	0.72032	D	0.01	.	5.3331	0.15944	0.0:0.433:0.4411:0.1259	.	.	.	.	H	82;92;89	.	ENSP00000379962:R89H	R	+	2	0	PPM1N	50697150	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.290000	0.08354	0.059000	0.16252	0.313000	0.20887	CGC		0.517	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	
PGLYRP1	8993	broad.mit.edu	37	19	46526137	46526137	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:46526137T>G	ENST00000008938.4	-	1	186	c.143A>C	c.(142-144)cAg>cCg	p.Q48P		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	48					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.Q48P(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTCAGGTGCTGGGCGCACTC	0.667																																					p.Q48P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A143C	19						.						38.0	32.0	34.0					19																	46526137		2203	4300	6503	51217977	SO:0001583	missense	8993	exon1			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.143A>C	19.37:g.46526137T>G	ENSP00000008938:p.Gln48Pro	Somatic		Capture	Illumina HiSeq	Phase_I	51217977	NM_005091	Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	T	8.757	0.922643	0.18056	.	.	ENSG00000008438	ENST00000008938	T	0.39592	1.07	4.65	1.2	0.21068	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (3);	1.262040	0.05474	N	0.553567	T	0.29423	0.0733	L	0.31664	0.95	0.09310	N	1	B	0.24823	0.112	B	0.24701	0.055	T	0.23583	-1.0184	10	0.25751	T	0.34	-0.5618	4.3716	0.11251	0.0:0.1897:0.1701:0.6402	.	48	O75594	PGRP1_HUMAN	P	48	ENSP00000008938:Q48P	ENSP00000008938:Q48P	Q	-	2	0	PGLYRP1	51217977	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.288000	0.08377	0.261000	0.21753	-0.298000	0.09462	CAG		0.667	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091	
CCDC8	83987	broad.mit.edu	37	19	46914651	46914651	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:46914651T>C	ENST00000307522.3	-	1	2190	c.1417A>G	c.(1417-1419)Aaa>Gaa	p.K473E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	473					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.K473E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TTGACCTGTTTCCGGGCCCTG	0.617																																					p.K473E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1417G	19						.						56.0	59.0	58.0					19																	46914651		2203	4300	6503	51606491	SO:0001583	missense	83987	exon1			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1417A>G	19.37:g.46914651T>C	ENSP00000303158:p.Lys473Glu	Somatic		Capture	Illumina HiSeq	Phase_I	51606491	NM_032040	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556691	0.86231	.	.	ENSG00000169515	ENST00000307522	T	0.19938	2.11	3.98	3.98	0.46160	.	0.175205	0.27349	N	0.019763	T	0.39963	0.1098	M	0.62723	1.935	0.27447	N	0.953551	D	0.71674	0.998	D	0.70935	0.971	T	0.11743	-1.0575	10	0.52906	T	0.07	-12.9987	11.4781	0.50310	0.0:0.0:0.0:1.0	.	473	Q9H0W5	CCDC8_HUMAN	E	473	ENSP00000303158:K473E	ENSP00000303158:K473E	K	-	1	0	CCDC8	51606491	0.982000	0.34865	0.996000	0.52242	0.996000	0.88848	1.916000	0.39986	2.030000	0.59900	0.454000	0.30748	AAA		0.617	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040	
PTPRS	5802	broad.mit.edu	37	19	5274310	5274310	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:5274310G>A	ENST00000587303.1	-	2	236	c.137C>T	c.(136-138)tCg>tTg	p.S46L	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Missense_Mutation_p.S46L|PTPRS_ENST00000590509.1_Missense_Mutation_p.S46L|PTPRS_ENST00000353284.2_Missense_Mutation_p.S46L|PTPRS_ENST00000357368.4_Missense_Mutation_p.S46L|PTPRS_ENST00000348075.2_Missense_Mutation_p.S46L|PTPRS_ENST00000262963.6_Missense_Mutation_p.S46L|PTPRS_ENST00000588012.1_Missense_Mutation_p.S46L|PTPRS_ENST00000592099.1_Missense_Mutation_p.S46L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	46	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S46L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CACACCCCCCGACACGCCGAT	0.597																																					p.S46L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137T	19						.						46.0	48.0	47.0					19																	5274310		2203	4300	6503	5225310	SO:0001583	missense	5802	exon3			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.137C>T	19.37:g.5274310G>A	ENSP00000467537:p.Ser46Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5225310	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624658	0.66901	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	3.7	3.7	0.42460	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.496678	0.16037	U	0.232592	T	0.64046	0.2563	N	0.04090	-0.28	0.40304	D	0.978649	P;P;P;D;D;D;D	0.89917	0.758;0.949;0.884;1.0;0.98;0.984;1.0	B;P;B;D;P;P;D	0.87578	0.217;0.763;0.142;0.996;0.764;0.757;0.998	T	0.67860	-0.5561	10	0.30078	T	0.28	.	15.888	0.79269	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46;72	F8W800;Q8NHS7;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;.;PTPRS_HUMAN;.	L	72;46;46;46;46;46;46;46;46;46	ENSP00000361489:S46L;ENSP00000349932:S46L;ENSP00000262963:S46L;ENSP00000269907:S46L;ENSP00000327313:S46L	ENSP00000262963:S46L	S	-	2	0	PTPRS	5225310	1.000000	0.71417	0.799000	0.32177	0.775000	0.43874	9.606000	0.98325	1.786000	0.52430	0.456000	0.33151	TCG		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
PNMAL1	55228	broad.mit.edu	37	19	46974177	46974177	+	Missense_Mutation	SNP	A	A	G	rs78055954		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:46974177A>G	ENST00000313683.10	-	2	421	c.116T>C	c.(115-117)aTt>aCt	p.I39T	PNMAL1_ENST00000602246.1_Missense_Mutation_p.I39T|PNMAL1_ENST00000438932.2_Missense_Mutation_p.I39T	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	39								p.I39T(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ggtctcctcaatttctgcctg	0.542																																					p.I39T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T116C	19						.						81.0	69.0	73.0					19																	46974177		2203	4300	6503	51666017	SO:0001583	missense	55228	exon2			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.116T>C	19.37:g.46974177A>G	ENSP00000318131:p.Ile39Thr	Somatic		Capture	Illumina HiSeq	Phase_I	51666017	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388658	0.61956	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.14516	2.5;2.5	3.94	3.94	0.45596	.	0.420625	0.18029	N	0.153985	T	0.21267	0.0512	M	0.78637	2.42	0.09310	N	1	P;P	0.48016	0.904;0.867	B;P	0.44897	0.429;0.463	T	0.14559	-1.0468	10	0.72032	D	0.01	-19.9239	9.4907	0.38958	1.0:0.0:0.0:0.0	.	39;39	Q86V59-2;Q86V59	.;PNML1_HUMAN	T	39	ENSP00000410273:I39T;ENSP00000318131:I39T	ENSP00000318131:I39T	I	-	2	0	PNMAL1	51666017	0.255000	0.24002	0.017000	0.16124	0.950000	0.60333	3.999000	0.57031	2.016000	0.59253	0.533000	0.62120	ATT		0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
SAE1	10055	broad.mit.edu	37	19	47656229	47656229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:47656229C>A	ENST00000270225.7	+	4	527	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Intron|SAE1_ENST00000392776.3_Missense_Mutation_p.F153L|SAE1_ENST00000413379.3_Missense_Mutation_p.F153L	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	153					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)	p.F153L(1)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GCATCAAGTTCTTTACAGGAG	0.433																																					p.F153L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C459A	19						.						181.0	166.0	171.0					19																	47656229		2203	4300	6503	52348069	SO:0001583	missense	10055	exon4			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.459C>A	19.37:g.47656229C>A	ENSP00000270225:p.Phe153Leu	Somatic		Capture	Illumina HiSeq	Phase_I	52348069	NM_005500	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487537	0.84854	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.79	3.62	0.41486	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.054522	0.64402	D	0.000001	T	0.41190	0.1148	L	0.35593	1.075	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.952	D;D;P	0.64144	0.922;0.915;0.719	T	0.11203	-1.0597	10	0.33141	T	0.24	.	8.4449	0.32836	0.0:0.7506:0.0:0.2494	.	153;153;153	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	L	153	ENSP00000416557:F153L;ENSP00000270225:F153L;ENSP00000440818:F153L;ENSP00000398818:F153L	ENSP00000270225:F153L	F	+	3	2	SAE1	52348069	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.622000	0.24433	0.744000	0.32741	0.655000	0.94253	TTC		0.433	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500	
NAPA	8775	broad.mit.edu	37	19	48003941	48003941	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:48003941C>T	ENST00000263354.3	-	3	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Intron|NAPA_ENST00000593785.1_5'UTR	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	82					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.A82T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AAGCAGGTGGCTGCGTCGTGC	0.637																																					p.A82T	Ovarian(185;1135 2042 27703 31345 42493)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	19						.						67.0	53.0	58.0					19																	48003941		2203	4300	6503	52695753	SO:0001583	missense	8775	exon3			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.244G>A	19.37:g.48003941C>T	ENSP00000263354:p.Ala82Thr	Somatic		Capture	Illumina HiSeq	Phase_I	52695753	NM_003827	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106511	0.77096	.	.	ENSG00000105402	ENST00000263354	T	0.48836	0.8	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	T	0.81228	-0.1028	10	0.62326	D	0.03	-28.0349	16.4832	0.84163	0.0:1.0:0.0:0.0	.	82	P54920	SNAA_HUMAN	T	82	ENSP00000263354:A82T	ENSP00000263354:A82T	A	-	1	0	NAPA	52695753	1.000000	0.71417	0.957000	0.39632	0.221000	0.24807	7.345000	0.79337	2.399000	0.81585	0.462000	0.41574	GCC		0.637	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827	
CRX	1406	broad.mit.edu	37	19	48343102	48343102	+	Missense_Mutation	SNP	G	G	A	rs370592248		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:48343102G>A	ENST00000221996.7	+	4	984	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	CRX_ENST00000539067.1_Missense_Mutation_p.A260T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	260					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A260T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCTATGGCGCCTACAGCCC	0.632																																					p.A260T	Pancreas(57;461 1196 22201 40716 47188)											.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G778A	19						.	G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	85.0	94.0	91.0		778	-2.8	0.1	19		91	0,8598		0,0,4299	no	missense	CRX	NM_000554.4	58	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	260/300	48343102	4,13000	2203	4299	6502	53034914	SO:0001583	missense	1406	exon4			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.778G>A	19.37:g.48343102G>A	ENSP00000221996:p.Ala260Thr	Somatic		Capture	Illumina HiSeq	Phase_I	53034914	NM_000554	Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056454	0.36277	9.08E-4	0.0	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91180	-2.8;-2.8	4.01	-2.78	0.05859	.	0.264094	0.36101	N	0.002795	T	0.76392	0.3981	N	0.13098	0.295	0.25780	N	0.98474	B	0.06786	0.001	B	0.04013	0.001	T	0.62497	-0.6842	10	0.23302	T	0.38	-1.7599	7.6328	0.28249	0.1562:0.0:0.6867:0.1571	.	260	O43186	CRX_HUMAN	T	260	ENSP00000221996:A260T;ENSP00000445565:A260T	ENSP00000221996:A260T	A	+	1	0	CRX	53034914	0.319000	0.24607	0.066000	0.19879	0.903000	0.53119	0.427000	0.21379	-0.429000	0.07329	0.467000	0.42956	GCC		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554	
PLA2G4C	8605	broad.mit.edu	37	19	48607867	48607867	+	Missense_Mutation	SNP	C	C	T	rs138956741		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:48607867C>T	ENST00000599921.1	-	4	592	c.235G>A	c.(235-237)Gca>Aca	p.A79T	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A89T|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A79T|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A79T			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	79	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.A79T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGACCCCTGCGAGGTACGTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19641	0.0		0.001	False		,,,				2504	0.0				p.A79T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	19						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	132.0	117.0	122.0		265,235,235	-0.9	0.4	19	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	89/552,79/528,79/542	48607867	2,13004	2203	4300	6503	53299679	SO:0001583	missense	8605	exon4			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.235G>A	19.37:g.48607867C>T	ENSP00000469473:p.Ala79Thr	Somatic		Capture	Illumina HiSeq	Phase_I	53299679	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.34	2.206909	0.39003	0.0	2.33E-4	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.06218	3.33;3.33	3.37	-0.846	0.10734	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.274202	0.27664	N	0.018365	T	0.08447	0.0210	L	0.41492	1.28	0.23716	N	0.997038	D;D;D	0.76494	0.997;0.995;0.999	P;P;D	0.64877	0.889;0.843;0.93	T	0.28427	-1.0044	10	0.09084	T	0.74	-4.0953	3.5628	0.07889	0.4326:0.4326:0.0:0.1348	.	89;79;79	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	T	79	ENSP00000346228:A79T;ENSP00000400036:A79T	ENSP00000346228:A79T	A	-	1	0	PLA2G4C	53299679	0.268000	0.24133	0.403000	0.26384	0.180000	0.23129	0.895000	0.28363	0.049000	0.15920	0.404000	0.27445	GCA		0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
CARD8	22900	broad.mit.edu	37	19	48733748	48733748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:48733748C>T	ENST00000359009.4	-	6	976	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	CARD8_ENST00000391898.3_Missense_Mutation_p.E328K|CARD8_ENST00000521613.1_Missense_Mutation_p.E278K|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Missense_Mutation_p.E328K|CARD8_ENST00000357778.5_Missense_Mutation_p.E53K|CARD8_ENST00000520153.1_Missense_Mutation_p.E278K|CARD8_ENST00000447740.2_Missense_Mutation_p.E278K|CARD8_ENST00000519940.1_Missense_Mutation_p.E328K|CARD8_ENST00000520753.1_Missense_Mutation_p.E328K			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	222					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)	p.E222K(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTAATATCTTCGGGGTGGGGG	0.498																																					p.E328K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	19						.						82.0	78.0	79.0					19																	48733748		2203	4300	6503	53425560	SO:0001583	missense	22900	exon10			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.664G>A	19.37:g.48733748C>T	ENSP00000351901:p.Glu222Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53425560	NM_001184902	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37		.	.	.	.	.	.	.	.	.	.	C	13.25	2.181451	0.38511	.	.	ENSG00000105483	ENST00000357778;ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	2.29	1.18	0.20946	.	.	.	.	.	T	0.32346	0.0826	L	0.54323	1.7	0.09310	N	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.995;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.79784	0.993;0.989;0.989;0.989;0.956;0.982;0.988;0.993	T	0.13415	-1.0510	9	0.30854	T	0.27	.	3.464	0.07543	0.0:0.5634:0.2753:0.1613	.	247;328;328;261;328;278;222;222	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	K	53;278;328;222;328;278;328;278;328	ENSP00000350423:E53K;ENSP00000391248:E278K;ENSP00000375767:E328K;ENSP00000351901:E222K;ENSP00000429839:E328K;ENSP00000428736:E278K;ENSP00000430747:E328K;ENSP00000427858:E278K;ENSP00000428883:E328K	ENSP00000350423:E53K	E	-	1	0	CARD8	53425560	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.253000	0.08794	0.492000	0.27815	0.591000	0.81541	GAA		0.498	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959	
KDELR1	10945	broad.mit.edu	37	19	48887553	48887553	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:48887553C>T	ENST00000330720.2	-	4	732	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	KDELR1_ENST00000597017.1_Missense_Mutation_p.A118T	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	180					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)	p.A180T(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GCCACAATGGCGATGAGGTCG	0.532																																					p.A180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	19						.						73.0	63.0	66.0					19																	48887553		2203	4300	6503	53579365	SO:0001583	missense	10945	exon4			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.538G>A	19.37:g.48887553C>T	ENSP00000329471:p.Ala180Thr	Somatic		Capture	Illumina HiSeq	Phase_I	53579365	NM_006801	B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083507	0.76642	.	.	ENSG00000105438	ENST00000330720	T	0.77229	-1.08	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000014	T	0.76176	0.3951	M	0.78344	2.41	0.80722	D	1	P	0.42456	0.78	B	0.34536	0.185	T	0.80329	-0.1428	10	0.45353	T	0.12	.	16.8929	0.86092	0.0:1.0:0.0:0.0	.	180	P24390	ERD21_HUMAN	T	180	ENSP00000329471:A180T	ENSP00000329471:A180T	A	-	1	0	KDELR1	53579365	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.549000	0.82163	2.607000	0.88179	0.655000	0.94253	GCC		0.532	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1		
HRC	3270	broad.mit.edu	37	19	49658156	49658156	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:49658156G>A	ENST00000252825.4	-	1	525	c.339C>T	c.(337-339)gtC>gtT	p.V113V	TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Silent_p.V113V|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	113	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.V113V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCATCTCCGACTTTGTGGT	0.572																																					p.V113V	Melanoma(37;75 1097 24567 25669 30645)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339T	19						.						126.0	108.0	115.0					19																	49658156		2203	4300	6503	54349968	SO:0001819	synonymous_variant	3270	exon1				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.339C>T	19.37:g.49658156G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54349968	NM_002152	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.572	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
TEAD2	8463	broad.mit.edu	37	19	49858416	49858416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:49858416C>T	ENST00000311227.2	-	6	606	c.516G>A	c.(514-516)tgG>tgA	p.W172*	TEAD2_ENST00000377214.4_Nonsense_Mutation_p.W175*|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000601519.1_Nonsense_Mutation_p.W175*|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000598810.1_Nonsense_Mutation_p.W176*|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.W176*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.W44*	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	172	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W172*(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTGGAACATTCCAGGGGGGCC	0.552																																					p.W172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G516A	19						.						30.0	30.0	30.0					19																	49858416		2203	4300	6503	54550228	SO:0001587	stop_gained	8463	exon6			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.516G>A	19.37:g.49858416C>T	ENSP00000310701:p.Trp172*	Somatic		Capture	Illumina HiSeq	Phase_I	54550228	NM_003598	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Nonsense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356756	0.95854	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	.	.	.	5.06	4.03	0.46877	.	0.528297	0.16106	N	0.229335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.9093	6.7095	0.23270	0.0:0.8152:0.0:0.1848	.	.	.	.	X	172;175;44	.	ENSP00000310701:W172X	W	-	3	0	TEAD2	54550228	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	1.698000	0.37794	2.746000	0.94184	0.655000	0.94253	TGG		0.552	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
VRK3	51231	broad.mit.edu	37	19	50491631	50491631	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:50491631C>A	ENST00000599538.1	-	12	1879	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	VRK3_ENST00000424804.2_5'Flank|VRK3_ENST00000443401.2_Missense_Mutation_p.Q174H|VRK3_ENST00000593919.1_Missense_Mutation_p.Q405H|VRK3_ENST00000601912.1_Missense_Mutation_p.Q355H|VRK3_ENST00000316763.3_Missense_Mutation_p.Q405H|VRK3_ENST00000594948.1_Missense_Mutation_p.Q405H|VRK3_ENST00000377011.2_Missense_Mutation_p.Q355H|VRK3_ENST00000601341.1_Missense_Mutation_p.Q355H|VRK3_ENST00000594092.1_Missense_Mutation_p.Q405H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.Q405H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		AGACTCACTTCTGTTTTTGCT	0.567																																					p.Q355H	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1065T	19						.						105.0	99.0	101.0					19																	50491631		2203	4300	6503	55183443	SO:0001583	missense	51231	exon11			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1215G>T	19.37:g.50491631C>A	ENSP00000469880:p.Gln405His	Somatic		Capture	Illumina HiSeq	Phase_I	55183443	NM_001025778	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374512	0.42105	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401	T;T;T	0.08807	3.05;3.05;3.05	5.44	3.31	0.37934	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.365963	0.31370	N	0.007771	T	0.07863	0.0197	L	0.53671	1.685	0.80722	D	1	P;P;P;P	0.37038	0.475;0.524;0.579;0.579	B;B;B;B	0.29663	0.06;0.064;0.072;0.105	T	0.17077	-1.0381	10	0.51188	T	0.08	-13.6411	9.4972	0.38995	0.0:0.8287:0.0:0.1713	.	174;405;355;405	B4DGW1;Q8IV63-2;A6NEG5;Q8IV63	.;.;.;VRK3_HUMAN	H	405;355;174	ENSP00000324636:Q405H;ENSP00000366210:Q355H;ENSP00000414907:Q174H	ENSP00000324636:Q405H	Q	-	3	2	VRK3	55183443	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.618000	0.46393	1.454000	0.47793	0.655000	0.94253	CAG		0.567	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	
MYBPC2	4606	broad.mit.edu	37	19	50957312	50957312	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:50957312G>T	ENST00000357701.5	+	17	1836	c.1785G>T	c.(1783-1785)gaG>gaT	p.E595D		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	595	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E595D(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCGCATCGAGAAGCGGGTGG	0.632																																					p.E595D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1785T	19						.						24.0	29.0	27.0					19																	50957312		2092	4193	6285	55649124	SO:0001583	missense	4606	exon17				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1785G>T	19.37:g.50957312G>T	ENSP00000350332:p.Glu595Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55649124	NM_004533	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	15.36	2.809111	0.50421	.	.	ENSG00000086967	ENST00000357701	T	0.67171	-0.25	3.09	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35320	U	0.003294	T	0.54255	0.1847	L	0.38649	1.16	0.34348	D	0.689568	B	0.23650	0.089	B	0.32022	0.139	T	0.59590	-0.7426	10	0.26408	T	0.33	.	9.7399	0.40411	0.1176:0.0:0.8824:0.0	.	595	Q14324	MYPC2_HUMAN	D	595	ENSP00000350332:E595D	ENSP00000350332:E595D	E	+	3	2	MYBPC2	55649124	1.000000	0.71417	0.313000	0.25210	0.026000	0.11368	3.719000	0.54926	1.771000	0.52183	0.394000	0.25966	GAG		0.632	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	
KLK4	9622	broad.mit.edu	37	19	51411897	51411897	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51411897G>A	ENST00000324041.1	-	3	412	c.413C>T	c.(412-414)gCt>gTt	p.A138V	KLK4_ENST00000431178.2_Missense_Mutation_p.A89V|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A138V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCACTGCGAAGCAATGCTGAT	0.587																																					p.A138V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	19						.						120.0	88.0	99.0					19																	51411897		2203	4300	6503	56103709	SO:0001583	missense	9622	exon3			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.413C>T	19.37:g.51411897G>A	ENSP00000326159:p.Ala138Val	Somatic		Capture	Illumina HiSeq	Phase_I	56103709	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	15.00	2.703028	0.48412	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.93247	-3.19;-3.19	3.99	3.99	0.46301	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.191262	0.25897	N	0.027590	D	0.86489	0.5945	L	0.38733	1.17	0.09310	N	1	P;P	0.50443	0.935;0.54	B;B	0.31442	0.13;0.084	T	0.81782	-0.0775	10	0.46703	T	0.11	.	13.9433	0.64069	0.0:0.0:1.0:0.0	.	89;138	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	V	138;89	ENSP00000326159:A138V;ENSP00000399448:A89V	ENSP00000326159:A138V	A	-	2	0	KLK4	56103709	0.037000	0.19845	0.008000	0.14137	0.001000	0.01503	2.539000	0.45718	2.214000	0.71695	0.561000	0.74099	GCT		0.587	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	
KLK5	25818	broad.mit.edu	37	19	51452012	51452012	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51452012G>T	ENST00000336334.3	-	5	962	c.610C>A	c.(610-612)Ctc>Atc	p.L204I	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.L204I|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.L204I	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L204I(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AAGCACTGGAGGACCTTAGGG	0.507																																					p.L204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610A	19						.						117.0	104.0	108.0					19																	51452012		2203	4300	6503	56143824	SO:0001583	missense	25818	exon5			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.610C>A	19.37:g.51452012G>T	ENSP00000337733:p.Leu204Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56143824	NM_001077492	Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	g	19.92	3.916685	0.73098	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.96136	-3.92;-3.92	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.30011	U	0.010629	D	0.97939	0.9322	M	0.91872	3.25	0.41738	D	0.989592	P	0.50443	0.935	D	0.65323	0.934	D	0.99100	1.0843	10	0.72032	D	0.01	.	15.1428	0.72623	0.0:0.0:1.0:0.0	.	204	Q9Y337	KLK5_HUMAN	I	204	ENSP00000337733:L204I;ENSP00000375685:L204I	ENSP00000337733:L204I	L	-	1	0	KLK5	56143824	1.000000	0.71417	0.100000	0.21137	0.006000	0.05464	5.901000	0.69861	2.404000	0.81709	0.655000	0.94253	CTC		0.507	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427	
KLK9	284366	broad.mit.edu	37	19	51509750	51509750	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51509750G>T	ENST00000594211.1	-	3	430	c.430C>A	c.(430-432)Ctc>Atc	p.L144I	KLK9_ENST00000376832.4_Missense_Mutation_p.L144I|KLK9_ENST00000250366.6_Missense_Mutation_p.L144I|CTB-147C22.9_ENST00000594512.1_RNA			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L144I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCTGAGATGAGACACTGCATG	0.607																																					p.L144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430A	19						.						37.0	36.0	36.0					19																	51509750		2203	4297	6500	56201562	SO:0001583	missense	284366	exon3			AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.430C>A	19.37:g.51509750G>T	ENSP00000469417:p.Leu144Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56201562	NM_012315	Q6QA55	Missense_Mutation	SNP	ENST00000594211.1	37	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	g	14.07	2.427153	0.43122	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.92911	-3.13;-3.13	4.12	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.91901	0.7436	N	0.26162	0.8	0.80722	D	1	P;P	0.50943	0.94;0.94	D;D	0.63793	0.918;0.918	D	0.92152	0.5729	9	0.66056	D	0.02	.	12.0526	0.53515	0.0:0.0:1.0:0.0	.	144;144	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	I	144	ENSP00000366028:L144I;ENSP00000250366:L144I	ENSP00000250366:L144I	L	-	1	0	KLK9	56201562	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	0.884000	0.28214	2.293000	0.77203	0.457000	0.33378	CTC		0.607	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315	
KLK13	26085	broad.mit.edu	37	19	51561893	51561893	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51561893G>A	ENST00000595793.1	-	4	589	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	KLK13_ENST00000335422.3_Missense_Mutation_p.L31F|KLK13_ENST00000595547.1_Missense_Mutation_p.L110F	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.L183F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TCTGAGCGAAGTTGGATGTTG	0.483																																					p.L183F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	19						.						219.0	201.0	207.0					19																	51561893		2203	4300	6503	56253705	SO:0001583	missense	26085	exon4				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.547C>T	19.37:g.51561893G>A	ENSP00000470555:p.Leu183Phe	Somatic		Capture	Illumina HiSeq	Phase_I	56253705	NM_015596	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356928	0.41801	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.90004	-2.6	4.8	4.8	0.61643	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38548	N	0.001648	D	0.90452	0.7010	L	0.35644	1.08	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.971;0.968;0.993	D	0.90449	0.4437	10	0.87932	D	0	.	10.7385	0.46139	0.0:0.0:0.8102:0.1898	.	31;110;183	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	F	183;31	ENSP00000334079:L31F	ENSP00000156476:L183F	L	-	1	0	KLK13	56253705	0.998000	0.40836	0.970000	0.41538	0.129000	0.20672	2.405000	0.44548	2.657000	0.90304	0.655000	0.94253	CTT		0.483	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596	
RPL36	25873	broad.mit.edu	37	19	5694431	5694431	+	IGR	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:5694431C>T	ENST00000577222.1	+	0	874				LONP1_ENST00000585374.1_Missense_Mutation_p.G649S|LONP1_ENST00000360614.3_Missense_Mutation_p.G763S|LONP1_ENST00000590729.1_Missense_Mutation_p.G633S|LONP1_ENST00000540670.2_Missense_Mutation_p.G567S|LONP1_ENST00000593119.1_Missense_Mutation_p.G699S			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G763S(1)		breast(1)|upper_aerodigestive_tract(1)	2						ATGACCACGCCGGGCGGTGTC	0.647																																					p.G763S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2287A	19						.						75.0	63.0	67.0					19																	5694431		2203	4300	6503	5645431	SO:0001628	intergenic_variant	9361	exon15				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5694431C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5645431	NM_004793	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000259	0.93227	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.75938	-0.98;-0.98	3.97	3.97	0.46021	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	H	0.99619	4.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95016	0.8156	10	0.87932	D	0	-22.9328	13.5555	0.61757	0.0:1.0:0.0:0.0	.	763;699;763	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	S	763;727;567	ENSP00000353826:G763S;ENSP00000441523:G567S	ENSP00000351177:G727S	G	-	1	0	LONP1	5645431	1.000000	0.71417	0.404000	0.26397	0.860000	0.49131	7.074000	0.76791	1.770000	0.52166	0.462000	0.41574	GGC		0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414	
SIGLEC7	27036	broad.mit.edu	37	19	51647913	51647913	+	Silent	SNP	G	G	A	rs367577316		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51647913G>A	ENST00000317643.6	+	2	753	c.684G>A	c.(682-684)acG>acA	p.T228T	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	228	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T228T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCGTGACCACGAACAGGACCA	0.657													.|||	1	0.000199681	0.0	0.0	5008	,	,		17999	0.0		0.0	False		,,,				2504	0.001				p.T228T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G684A	19						.						53.0	50.0	51.0					19																	51647913		2203	4300	6503	56339725	SO:0001819	synonymous_variant	27036	exon2			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.684G>A	19.37:g.51647913G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56339725	NM_014385	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
CLDND2	125875	broad.mit.edu	37	19	51870717	51870717	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51870717G>T	ENST00000291715.1	-	3	849	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	CTD-2616J11.11_ENST00000600067.1_Intron|CLDND2_ENST00000601435.1_Missense_Mutation_p.L142I|CTD-2616J11.10_ENST00000595500.1_RNA|ETFB_ENST00000309244.4_5'Flank	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	142						integral component of membrane (GO:0016021)		p.L142I(1)		endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTACCCGCGAGAATTGAGAAG	0.582																																					p.L142I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424A	19						.						45.0	46.0	46.0					19																	51870717		2202	4299	6501	56562529	SO:0001583	missense	125875	exon3			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.424C>A	19.37:g.51870717G>T	ENSP00000291715:p.Leu142Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56562529	NM_152353		Missense_Mutation	SNP	ENST00000291715.1	37	CCDS12829.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421262	0.25639	.	.	ENSG00000160318	ENST00000291715	D	0.88975	-2.45	3.59	1.26	0.21427	.	0.191775	0.25035	N	0.033641	T	0.78710	0.4326	L	0.32530	0.975	0.29651	N	0.843987	B	0.20887	0.049	B	0.26094	0.066	T	0.62501	-0.6841	10	0.06494	T	0.89	-17.1792	8.1567	0.31173	0.0:0.0:0.5457:0.4543	.	142	Q8NHS1	CLDN2_HUMAN	I	142	ENSP00000291715:L142I	ENSP00000291715:L142I	L	-	1	0	CLDND2	56562529	0.999000	0.42202	0.968000	0.41197	0.837000	0.47467	0.275000	0.18698	0.249000	0.21456	0.436000	0.28706	CTC		0.582	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353	
LIM2	3982	broad.mit.edu	37	19	51883763	51883763	+	Silent	SNP	G	G	A	rs201804561		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51883763G>A	ENST00000596399.1	-	4	503	c.456C>T	c.(454-456)ttC>ttT	p.F152F	LIM2_ENST00000221973.3_Silent_p.F194F	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	152					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)	p.F194F(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CAGTACCTGCGAAGAACGTCA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		15733	0.001		0.0	False		,,,				2504	0.0				p.F152F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	19						.						159.0	162.0	161.0					19																	51883763		2203	4300	6503	56575575	SO:0001819	synonymous_variant	3982	exon4				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.456C>T	19.37:g.51883763G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56575575	NM_001161748	Q6B083|Q9BXD0|Q9HAR5	Silent	SNP	ENST00000596399.1	37	CCDS59415.1																																																																																				0.617	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657	
CEACAM18	729767	broad.mit.edu	37	19	51983592	51983592	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:51983592C>A	ENST00000396477.4	+	2	79	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	CEACAM18_ENST00000451626.1_Missense_Mutation_p.L81M	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	20								p.L81M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCAGCCAGTCTGCTGGCCTG	0.507																																					p.L81M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C241A	19						.						32.0	29.0	30.0					19																	51983592		1891	4102	5993	56675404	SO:0001583	missense	729767	exon3					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.58C>A	19.37:g.51983592C>A	ENSP00000379738:p.Leu20Met	Somatic		Capture	Illumina HiSeq	Phase_I	56675404	NM_001080405	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37		.	.	.	.	.	.	.	.	.	.	.	17.12	3.307148	0.60305	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.10288	2.89	2.79	0.491	0.16867	.	.	.	.	.	T	0.15782	0.0380	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.15492	-1.0435	9	0.54805	T	0.06	2.0E-4	3.699	0.08375	0.0:0.5853:0.2619:0.1528	.	81	A8MTB9	CEA18_HUMAN	M	81;20;20	ENSP00000402203:L81M	ENSP00000379738:L20M	L	+	1	2	CEACAM18	56675404	0.001000	0.12720	0.121000	0.21740	0.962000	0.63368	-0.127000	0.10547	0.226000	0.20979	0.650000	0.86243	CTG		0.507	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
SIGLEC6	946	broad.mit.edu	37	19	52033189	52033189	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52033189G>A	ENST00000425629.3	-	5	955	c.801C>T	c.(799-801)ggC>ggT	p.G267G	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000391797.3_Silent_p.G256G|SIGLEC6_ENST00000346477.3_Silent_p.G251G|SIGLEC6_ENST00000436458.1_Silent_p.G215G|SIGLEC6_ENST00000359982.4_Silent_p.G278G|SIGLEC6_ENST00000343300.4_Silent_p.G267G	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	267	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.G240G(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCAGAGCCTGGCCCTCCAGGA	0.597																																					p.G267G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C801T	19						.						89.0	101.0	97.0					19																	52033189		2202	4299	6501	56725001	SO:0001819	synonymous_variant	946	exon5			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.801C>T	19.37:g.52033189G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56725001	NM_001245	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	CCDS12834.3																																																																																				0.597	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
ZNF175	7728	broad.mit.edu	37	19	52091068	52091068	+	Missense_Mutation	SNP	G	G	A	rs146440538	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52091068G>A	ENST00000262259.2	+	5	1842	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	495					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R495Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ATACATCATCGAATTCATACA	0.408																																					p.R495Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1484A	19						.	G	GLN/ARG	0,4406		0,0,2203	51.0	45.0	47.0		1484	2.6	0.8	19	dbSNP_134	47	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF175	NM_007147.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	495/712	52091068	1,13003	2203	4299	6502	56782880	SO:0001583	missense	7728	exon5			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1484G>A	19.37:g.52091068G>A	ENSP00000262259:p.Arg495Gln	Somatic		Capture	Illumina HiSeq	Phase_I	56782880	NM_007147	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902492	0.72754	0.0	1.16E-4	ENSG00000105497	ENST00000262259	T	0.24723	1.84	2.56	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34366	0.0895	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.12682	-1.0538	9	0.66056	D	0.02	.	5.3872	0.16224	0.1578:0.0:0.8421:0.0	.	495	Q9Y473	ZN175_HUMAN	Q	495	ENSP00000262259:R495Q	ENSP00000262259:R495Q	R	+	2	0	ZNF175	56782880	0.001000	0.12720	0.823000	0.32752	0.998000	0.95712	0.961000	0.29267	1.746000	0.51805	0.655000	0.94253	CGA		0.408	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147	
FPR1	2357	broad.mit.edu	37	19	52249706	52249706	+	Missense_Mutation	SNP	G	G	A	rs146075164		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52249706G>A	ENST00000595042.1	-	3	683	c.542C>T	c.(541-543)tCg>tTg	p.S181L	FPR1_ENST00000304748.4_Missense_Mutation_p.S181L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	181					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.S181L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGTCCAGGGCGAAAAGTTAAA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		21187	0.0		0.0	False		,,,				2504	0.001				p.S181L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542T	19						.	G	LEU/SER,LEU/SER	0,4406		0,0,2203	98.0	93.0	94.0		542,542	-0.4	0.0	19	dbSNP_134	94	1,8599		0,1,4299	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	181/351,181/351	52249706	1,13005	2203	4300	6503	56941518	SO:0001583	missense	2357	exon3			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.542C>T	19.37:g.52249706G>A	ENSP00000471493:p.Ser181Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56941518	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	10.13	1.266002	0.23136	0.0	1.16E-4	ENSG00000171051	ENST00000304748	T	0.28255	1.62	3.66	-0.423	0.12325	GPCR, rhodopsin-like superfamily (1);	1.055070	0.07499	N	0.906938	T	0.23054	0.0557	L	0.48877	1.53	0.09310	N	1	P	0.35600	0.511	B	0.36534	0.227	T	0.27905	-1.0060	10	0.33141	T	0.24	.	1.7441	0.02958	0.1111:0.1795:0.3425:0.367	.	181	P21462	FPR1_HUMAN	L	181	ENSP00000302707:S181L	ENSP00000302707:S181L	S	-	2	0	FPR1	56941518	0.048000	0.20356	0.001000	0.08648	0.029000	0.11900	2.372000	0.44257	0.242000	0.21303	0.655000	0.94253	TCG		0.527	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
ZNF350	59348	broad.mit.edu	37	19	52468777	52468777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52468777C>T	ENST00000243644.4	-	5	1156	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	310					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R310Q(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGTATGAATTCGCTGGTGTAC	0.398																																					p.R310Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G929A	19						.						106.0	101.0	103.0					19																	52468777		2203	4300	6503	57160589	SO:0001583	missense	59348	exon5			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.929G>A	19.37:g.52468777C>T	ENSP00000243644:p.Arg310Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57160589	NM_021632	Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776487	0.31411	.	.	ENSG00000256683	ENST00000243644	T	0.24723	1.84	3.41	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30392	N	0.009737	T	0.27832	0.0685	L	0.45698	1.435	0.24446	N	0.994505	D	0.65815	0.995	P	0.51895	0.683	T	0.08452	-1.0721	10	0.87932	D	0	.	5.5794	0.17241	0.2002:0.6896:0.0:0.1102	.	310	Q9GZX5	ZN350_HUMAN	Q	310	ENSP00000243644:R310Q	ENSP00000243644:R310Q	R	-	2	0	ZNF350	57160589	0.000000	0.05858	0.194000	0.23346	0.014000	0.08584	-0.195000	0.09546	0.618000	0.30179	-0.282000	0.10007	CGA		0.398	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632	
ZNF615	284370	broad.mit.edu	37	19	52496818	52496818	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52496818C>T	ENST00000602063.1	-	6	1860	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	ZNF615_ENST00000376716.5_Missense_Mutation_p.R504Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.R515Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R515Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R509Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R515Q(1)|p.R504Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGTATGAGTTCGCTGATGCAC	0.448																																					p.R504Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1511A	19						.						99.0	88.0	92.0					19																	52496818		2203	4300	6503	57188630	SO:0001583	missense	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1511G>A	19.37:g.52496818C>T	ENSP00000473089:p.Arg504Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57188630	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382011	0.42207	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.24723	1.84;1.84	2.86	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	L	0.48260	1.515	0.19945	N	0.999947	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;P;P	0.62298	0.9;0.839;0.839;0.9	T	0.08391	-1.0724	9	0.87932	D	0	.	9.8675	0.41152	0.0:0.7884:0.2116:0.0	.	509;511;515;504	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Q	504;514;509;514	ENSP00000365906:R504Q;ENSP00000375672:R509Q	ENSP00000347019:R514Q	R	-	2	0	ZNF615	57188630	0.000000	0.05858	0.598000	0.28837	0.562000	0.35680	0.050000	0.14120	1.583000	0.49898	0.491000	0.48974	CGA		0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
CATSPERD	257062	broad.mit.edu	37	19	5778450	5778450	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:5778450C>A	ENST00000381624.3	+	22	2221	c.2160C>A	c.(2158-2160)gtC>gtA	p.V720V	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	720					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.V720V(1)									TGCAGCTGGTCTCTGCTGGAG	0.602																																					p.V720V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2160A	19						.						69.0	73.0	71.0					19																	5778450		2077	4198	6275	5729450	SO:0001819	synonymous_variant	257062	exon22			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2160C>A	19.37:g.5778450C>A		Somatic		Capture	Illumina HiSeq	Phase_I	5729450	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																				0.602	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
ZNF432	9668	broad.mit.edu	37	19	52537654	52537654	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52537654C>A	ENST00000594154.1	-	5	1490	c.1278G>T	c.(1276-1278)gaG>gaT	p.E426D	ZNF432_ENST00000221315.5_Missense_Mutation_p.E426D			O94892	ZN432_HUMAN	zinc finger protein 432	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E426D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATATGACTTCTCTACTGTAT	0.398																																					p.E426D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1278T	19						.						103.0	100.0	101.0					19																	52537654		2203	4300	6503	57229466	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1278G>T	19.37:g.52537654C>A	ENSP00000470488:p.Glu426Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57229466	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899073	0.33535	.	.	ENSG00000256087	ENST00000221315	T	0.34472	1.36	2.81	1.72	0.24424	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27489	0.0675	L	0.28458	0.855	0.23366	N	0.997825	B	0.09022	0.002	B	0.15484	0.013	T	0.29305	-1.0016	9	0.87932	D	0	.	10.5586	0.45131	0.0:0.8004:0.1996:0.0	.	426	O94892	ZN432_HUMAN	D	426	ENSP00000221315:E426D	ENSP00000221315:E426D	E	-	3	2	ZNF432	57229466	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	0.851000	0.27751	0.493000	0.27837	-0.175000	0.13238	GAG		0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF616	90317	broad.mit.edu	37	19	52627267	52627267	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52627267G>T	ENST00000600228.1	-	3	309	c.48C>A	c.(46-48)ttC>ttA	p.F16L	ZNF616_ENST00000330123.5_Missense_Mutation_p.F16L|ZNF616_ENST00000596290.1_Missense_Mutation_p.F16L|ZNF616_ENST00000597013.1_Missense_Mutation_p.F16L	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F16L(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CCTCCTGAGAGAATTCTATGG	0.413																																					p.F16L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C48A	19						.						99.0	103.0	102.0					19																	52627267		2203	4300	6503	57319079	SO:0001583	missense	90317	exon3			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.48C>A	19.37:g.52627267G>T	ENSP00000471000:p.Phe16Leu	Somatic		Capture	Illumina HiSeq	Phase_I	57319079	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	9.050	0.991885	0.18966	.	.	ENSG00000204611	ENST00000330123	T	0.12879	2.64	1.33	1.33	0.21861	Krueppel-associated box (4);	.	.	.	.	T	0.22399	0.0540	M	0.93678	3.445	0.22292	N	0.999222	B	0.32893	0.389	B	0.25884	0.064	T	0.19160	-1.0314	9	0.54805	T	0.06	.	8.2032	0.31436	0.0:0.0:1.0:0.0	.	16	Q08AN1	ZN616_HUMAN	L	16	ENSP00000328722:F16L	ENSP00000328722:F16L	F	-	3	2	ZNF616	57319079	0.992000	0.36948	0.746000	0.31095	0.245000	0.25701	2.497000	0.45354	1.024000	0.39682	0.313000	0.20887	TTC		0.413	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF836	162962	broad.mit.edu	37	19	52658392	52658392	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52658392C>A	ENST00000322146.8	-	5	3065	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N	ZNF836_ENST00000597252.1_Missense_Mutation_p.K848N|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K848N(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTACACCAGCTTTGACCTTT	0.393																																					p.K848N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2544T	19						.						99.0	107.0	104.0					19																	52658392		2185	4293	6478	57350204	SO:0001583	missense	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2544G>T	19.37:g.52658392C>A	ENSP00000325038:p.Lys848Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57350204	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251450	0.05867	.	.	ENSG00000196267	ENST00000322146	T	0.13901	2.55	1.72	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.01235	-0.94	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42344	-0.9457	9	0.09843	T	0.71	.	1.0817	0.01644	0.145:0.3409:0.1981:0.316	.	848	Q6ZNA1	ZN836_HUMAN	N	848	ENSP00000325038:K848N	ENSP00000325038:K848N	K	-	3	2	ZNF836	57350204	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-4.142000	0.00286	-0.473000	0.06871	0.305000	0.20034	AAG		0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF836	162962	broad.mit.edu	37	19	52659871	52659871	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52659871C>A	ENST00000322146.8	-	5	1586	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	ZNF836_ENST00000597252.1_Missense_Mutation_p.E355D|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E355D(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATATGGTTTCTCTCCTGTAT	0.398																																					p.E355D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1065T	19						.						86.0	88.0	87.0					19																	52659871		2196	4299	6495	57351683	SO:0001583	missense	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1065G>T	19.37:g.52659871C>A	ENSP00000325038:p.Glu355Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57351683	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377555	0.11466	.	.	ENSG00000196267	ENST00000322146	T	0.26810	1.71	2.11	2.11	0.27256	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.28649	0.875	0.22601	N	0.998947	P	0.52463	0.953	P	0.52758	0.708	T	0.11131	-1.0600	9	0.56958	D	0.05	.	11.3252	0.49444	0.0:1.0:0.0:0.0	.	355	Q6ZNA1	ZN836_HUMAN	D	355	ENSP00000325038:E355D	ENSP00000325038:E355D	E	-	3	2	ZNF836	57351683	0.000000	0.05858	0.184000	0.23157	0.169000	0.22640	-0.725000	0.04942	1.187000	0.43000	0.478000	0.44815	GAG		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF766	90321	broad.mit.edu	37	19	52794336	52794336	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52794336G>A	ENST00000439461.1	+	4	1335	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	ZNF766_ENST00000593612.1_Missense_Mutation_p.R446K|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.R446K|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	431					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.R431K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AATCATCAGAGAATCCACACT	0.418																																					p.R431K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	19						.						102.0	107.0	105.0					19																	52794336		2203	4300	6503	57486148	SO:0001583	missense	90321	exon4			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1292G>A	19.37:g.52794336G>A	ENSP00000409652:p.Arg431Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57486148	NM_001010851	B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	5.986	0.365810	0.11352	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.18338	2.22;2.22	2.32	-4.63	0.03359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.16708	0.43	0.09310	N	1	B;B	0.22746	0.007;0.074	B;B	0.24006	0.007;0.05	T	0.26087	-1.0113	9	0.34782	T	0.22	.	0.7479	0.00985	0.2969:0.1266:0.1423:0.4342	.	446;431	G3XAE0;Q5HY98	.;ZN766_HUMAN	K	431;446	ENSP00000409652:R431K;ENSP00000352005:R446K	ENSP00000352005:R446K	R	+	2	0	ZNF766	57486148	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.467000	0.06664	-2.641000	0.00429	-1.082000	0.02213	AGA		0.418	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851	
ZNF610	162963	broad.mit.edu	37	19	52869359	52869359	+	Missense_Mutation	SNP	G	G	A	rs148719154		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52869359G>A	ENST00000403906.3	+	6	1184	c.728G>A	c.(727-729)cGc>cAc	p.R243H	ZNF610_ENST00000601151.1_Missense_Mutation_p.R200H|ZNF610_ENST00000321287.8_Missense_Mutation_p.R243H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R243H	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	243					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.R243H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTCAGTCGCAATTCACAC	0.403																																					p.R243H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	19						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	64.0	64.0	64.0		728,728,599,728	-1.2	0.0	19	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign	243/463,243/463,200/420,243/463	52869359	2,13004	2203	4300	6503	57561171	SO:0001583	missense	162963	exon6			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.728G>A	19.37:g.52869359G>A	ENSP00000383922:p.Arg243His	Somatic		Capture	Illumina HiSeq	Phase_I	57561171	NM_173530	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775835	0.16051	0.0	2.33E-4	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07327	3.2;3.2	1.82	-1.19	0.09585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.05351	-0.065	0.09310	N	1	B;B	0.16166	0.012;0.016	B;B	0.06405	0.001;0.002	T	0.43605	-0.9381	9	0.28530	T	0.3	.	2.8132	0.05447	0.6271:0.0:0.1564:0.2164	.	200;243	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	H	243;200;243	ENSP00000383922:R243H;ENSP00000327597:R243H	ENSP00000324441:R200H	R	+	2	0	ZNF610	57561171	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.296000	0.01142	-0.593000	0.05844	-0.518000	0.04402	CGC		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF528	84436	broad.mit.edu	37	19	52909829	52909829	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52909829T>C	ENST00000360465.3	+	6	630	c.204T>C	c.(202-204)acT>acC	p.T68T	ZNF528_ENST00000598192.1_Silent_p.T68T|ZNF528_ENST00000594530.1_Silent_p.T68T|ZNF528_ENST00000391788.2_Silent_p.T58T	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T68T(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATCCCTGGACTCTGCAGAGTG	0.483																																					p.T68T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T204C	19						.						110.0	106.0	107.0					19																	52909829		2203	4300	6503	57601641	SO:0001819	synonymous_variant	84436	exon6			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.204T>C	19.37:g.52909829T>C		Somatic		Capture	Illumina HiSeq	Phase_I	57601641	NM_032423	B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	T	3.369	-0.128738	0.06753	.	.	ENSG00000167555	ENST00000448954	.	.	.	2.03	-3.4	0.04853	.	.	.	.	.	T	0.18964	0.0455	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27872	-1.0061	4	.	.	.	.	2.6714	0.05068	0.4618:0.0:0.2326:0.3055	.	.	.	.	P	38	.	.	S	+	1	0	ZNF528	57601641	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.063000	0.14410	-0.484000	0.06763	0.383000	0.25322	TCT		0.483	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF528	84436	broad.mit.edu	37	19	52918941	52918941	+	Missense_Mutation	SNP	G	G	A	rs202043315		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52918941G>A	ENST00000360465.3	+	7	1262	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R279Q(2)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAGGTCTTTCGAAGCAGTTCA	0.388																																					p.R279Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G836A	19						.	G	GLN/ARG	0,4406		0,0,2203	95.0	99.0	98.0		836	-1.3	0.0	19		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF528	NM_032423.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	279/629	52918941	1,13005	2203	4300	6503	57610753	SO:0001583	missense	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.836G>A	19.37:g.52918941G>A	ENSP00000353652:p.Arg279Gln	Somatic		Capture	Illumina HiSeq	Phase_I	57610753	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454704	0.26161	0.0	1.16E-4	ENSG00000167555	ENST00000360465	T	0.18338	2.22	1.85	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	L	0.39633	1.23	0.09310	N	1	P	0.49358	0.923	B	0.33620	0.167	T	0.25779	-1.0122	9	0.45353	T	0.12	.	9.7711	0.40589	0.0:0.7035:0.2965:0.0	.	279	Q3MIS6	ZN528_HUMAN	Q	279	ENSP00000353652:R279Q	ENSP00000353652:R279Q	R	+	2	0	ZNF528	57610753	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.127000	0.00148	0.086000	0.17137	0.491000	0.48974	CGA		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF528	84436	broad.mit.edu	37	19	52919564	52919564	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:52919564C>A	ENST00000360465.3	+	7	1885	c.1459C>A	c.(1459-1461)Cat>Aat	p.H487N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H487N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCATAGAATTCATACTGGAGA	0.403																																					p.H487N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1459A	19						.						46.0	45.0	45.0					19																	52919564		2203	4300	6503	57611376	SO:0001583	missense	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1459C>A	19.37:g.52919564C>A	ENSP00000353652:p.His487Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57611376	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417500	0.25552	.	.	ENSG00000167555	ENST00000360465	T	0.67345	-0.26	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83348	0.5235	M	0.91406	3.205	0.23784	N	0.996859	D	0.71674	0.998	D	0.87578	0.998	T	0.71185	-0.4667	9	0.87932	D	0	.	10.2702	0.43479	0.0:1.0:0.0:0.0	.	487	Q3MIS6	ZN528_HUMAN	N	487	ENSP00000353652:H487N	ENSP00000353652:H487N	H	+	1	0	ZNF528	57611376	0.985000	0.35326	0.347000	0.25668	0.020000	0.10135	5.988000	0.70579	0.879000	0.35944	0.557000	0.71058	CAT		0.403	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF611	81856	broad.mit.edu	37	19	53208383	53208383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53208383C>A	ENST00000319783.1	-	7	2241	c.1925G>T	c.(1924-1926)aGa>aTa	p.R642I	ZNF611_ENST00000595798.1_Missense_Mutation_p.R573I|ZNF611_ENST00000543227.1_Missense_Mutation_p.R642I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R642I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R573I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R573I	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R642I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGTATGAAGTCTACGATGGTA	0.418																																					p.R573I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1718T	19						.						193.0	187.0	189.0					19																	53208383		2203	4300	6503	57900195	SO:0001583	missense	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1925G>T	19.37:g.53208383C>A	ENSP00000322427:p.Arg642Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57900195	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437454	0.43224	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.69	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21468	0.0517	M	0.76938	2.355	0.22803	N	0.998711	P	0.37061	0.58	B	0.23150	0.044	T	0.09773	-1.0659	9	0.66056	D	0.02	.	5.7829	0.18316	0.1971:0.4131:0.3898:0.0	.	642	Q8N823	ZN611_HUMAN	I	642;642;573;642	ENSP00000437616:R642I;ENSP00000439211:R642I;ENSP00000443505:R573I;ENSP00000322427:R642I	ENSP00000322427:R642I	R	-	2	0	ZNF611	57900195	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-7.076000	0.00045	-0.550000	0.06183	0.306000	0.20318	AGA		0.418	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF611	81856	broad.mit.edu	37	19	53209667	53209667	+	Missense_Mutation	SNP	T	T	G	rs372229692		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53209667T>G	ENST00000319783.1	-	7	957	c.641A>C	c.(640-642)aAt>aCt	p.N214T	ZNF611_ENST00000595798.1_Missense_Mutation_p.N145T|ZNF611_ENST00000543227.1_Missense_Mutation_p.N214T|ZNF611_ENST00000540744.1_Missense_Mutation_p.N214T|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000602162.1_Missense_Mutation_p.N145T|ZNF611_ENST00000453741.2_Missense_Mutation_p.N145T	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N214T(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TAATGAAGAATTCAGGGGATT	0.383																																					p.N145T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A434C	19						.						104.0	113.0	110.0					19																	53209667		2203	4299	6502	57901479	SO:0001583	missense	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.641A>C	19.37:g.53209667T>G	ENSP00000322427:p.Asn214Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57901479	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	5.666	0.307564	0.10733	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.08546	3.2;3.2;3.08;3.2	0.958	0.958	0.19619	.	.	.	.	.	T	0.04724	0.0128	L	0.34521	1.04	0.09310	N	1	P	0.40794	0.729	B	0.30716	0.119	T	0.37384	-0.9708	9	0.39692	T	0.17	.	4.1848	0.10393	0.0:0.0:0.0:1.0	.	214	Q8N823	ZN611_HUMAN	T	214;214;145;214	ENSP00000437616:N214T;ENSP00000439211:N214T;ENSP00000443505:N145T;ENSP00000322427:N214T	ENSP00000322427:N214T	N	-	2	0	ZNF611	57901479	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.274000	0.08537	0.691000	0.31592	0.254000	0.18369	AAT		0.383	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF600	162966	broad.mit.edu	37	19	53269608	53269608	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53269608C>A	ENST00000338230.3	-	3	1668	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E467D(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGTATGGTTTCTCTCCGGTGT	0.378																																					p.E467D	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1401T	19						.						125.0	126.0	126.0					19																	53269608		2203	4300	6503	57961420	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1401G>T	19.37:g.53269608C>A	ENSP00000344791:p.Glu467Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57961420	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247524	0.39697	.	.	ENSG00000189190	ENST00000338230	T	0.26810	1.71	1.5	0.355	0.16069	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36413	0.0966	L	0.43757	1.38	0.23693	N	0.997095	D	0.55605	0.972	D	0.68765	0.96	T	0.15723	-1.0427	9	0.72032	D	0.01	.	6.6777	0.23103	0.0:0.8295:0.0:0.1705	.	467	Q6ZNG1	ZN600_HUMAN	D	467	ENSP00000344791:E467D	ENSP00000344791:E467D	E	-	3	2	ZNF600	57961420	0.003000	0.15002	0.336000	0.25522	0.146000	0.21551	-0.582000	0.05814	-0.003000	0.14444	0.184000	0.17185	GAG		0.378	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF600	162966	broad.mit.edu	37	19	53270044	53270044	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53270044C>A	ENST00000338230.3	-	3	1232	c.965G>T	c.(964-966)aGa>aTa	p.R322I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R322I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGTATGAATTCTCTTATGTGA	0.393																																					p.R322I	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965T	19						.						64.0	65.0	65.0					19																	53270044		2203	4299	6502	57961856	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.965G>T	19.37:g.53270044C>A	ENSP00000344791:p.Arg322Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57961856	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.707572	0.48412	.	.	ENSG00000189190	ENST00000338230	T	0.24908	1.83	1.5	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	M	0.64260	1.97	0.35797	D	0.822841	P	0.50066	0.931	P	0.47827	0.558	T	0.38351	-0.9665	9	0.54805	T	0.06	.	1.5906	0.02653	0.2017:0.4502:0.1995:0.1486	.	322	Q6ZNG1	ZN600_HUMAN	I	322	ENSP00000344791:R322I	ENSP00000344791:R322I	R	-	2	0	ZNF600	57961856	0.000000	0.05858	0.008000	0.14137	0.258000	0.26162	0.013000	0.13310	-0.597000	0.05813	0.184000	0.17185	AGA		0.393	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF160	90338	broad.mit.edu	37	19	53572488	53572488	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53572488G>T	ENST00000429604.1	-	7	1714	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V	ZNF160_ENST00000599056.1_Silent_p.V433V|ZNF160_ENST00000418871.1_Silent_p.V433V|ZNF160_ENST00000601421.1_Silent_p.V397V	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	433					hemopoiesis (GO:0030097)|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.V433V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGTACCTAAAGACTTTGCCAC	0.418																																					p.V433V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1299A	19						.						134.0	134.0	134.0					19																	53572488		2203	4300	6503	58264300	SO:0001819	synonymous_variant	90338	exon7			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1299C>A	19.37:g.53572488G>T		Somatic		Capture	Illumina HiSeq	Phase_I	58264300	NM_198893	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	CCDS12859.1																																																																																				0.418	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF415	55786	broad.mit.edu	37	19	53612819	53612819	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53612819T>C	ENST00000500065.4	-	4	812	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	ZNF415_ENST00000448501.1_Missense_Mutation_p.Y208C|ZNF415_ENST00000440291.1_Missense_Mutation_p.Y147C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.Y208C|ZNF415_ENST00000243643.4_Missense_Mutation_p.Y160C|ZNF415_ENST00000421033.1_Missense_Mutation_p.Y172C|ZNF415_ENST00000597503.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y160C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTTACATTCATAAATTTTCCC	0.373																																					p.Y160C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A479G	19						.						116.0	111.0	113.0					19																	53612819		2203	4300	6503	58304631	SO:0001583	missense	55786	exon4			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.479A>G	19.37:g.53612819T>C	ENSP00000439435:p.Tyr160Cys	Somatic		Capture	Illumina HiSeq	Phase_I	58304631	NM_001136038	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330686	0.41297	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06	2.74	-0.891	0.10573	.	.	.	.	.	T	0.18800	0.0451	M	0.65498	2.005	0.09310	N	1	B;D;B;D;B;D	0.89917	0.107;1.0;0.013;0.998;0.107;1.0	B;D;B;D;B;D	0.81914	0.036;0.995;0.01;0.947;0.036;0.993	T	0.12915	-1.0529	9	0.52906	T	0.07	.	2.3232	0.04216	0.3901:0.2573:0.0:0.3526	.	160;208;208;160;147;172	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	C	160;160;208;172;208;147	ENSP00000243643:Y160C;ENSP00000439435:Y160C;ENSP00000396492:Y208C;ENSP00000395055:Y172C;ENSP00000388787:Y208C;ENSP00000414601:Y147C	ENSP00000243643:Y160C	Y	-	2	0	ZNF415	58304631	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	0.015000	0.13355	-0.426000	0.07360	0.260000	0.18958	TAT		0.373	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF347	84671	broad.mit.edu	37	19	53645531	53645531	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53645531G>A	ENST00000334197.7	-	5	618	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.L185F|ZNF347_ENST00000452676.2_Missense_Mutation_p.L185F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	184					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.L184F(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTTAATCCAAGCTGATTTTTA	0.353																																					p.L185F	Melanoma(64;205 1597 17324 45721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C553T	19						.						148.0	135.0	139.0					19																	53645531		2203	4300	6503	58337343	SO:0001583	missense	84671	exon5			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.550C>T	19.37:g.53645531G>A	ENSP00000334146:p.Leu184Phe	Somatic		Capture	Illumina HiSeq	Phase_I	58337343	NM_001172675	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655400	0.29425	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.10477	2.88;2.87	2.55	-1.78	0.07957	.	.	.	.	.	T	0.14657	0.0354	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.99	D;P	0.83275	0.996;0.655	T	0.28332	-1.0047	9	0.10636	T	0.68	.	6.5813	0.22596	0.0:0.3539:0.4669:0.1792	.	185;184	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	184;185	ENSP00000334146:L184F;ENSP00000405218:L185F	ENSP00000334146:L184F	L	-	1	0	ZNF347	58337343	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.022000	0.13511	-0.014000	0.14175	0.655000	0.94253	CTT		0.353	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF665	79788	broad.mit.edu	37	19	53667870	53667870	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53667870G>A	ENST00000600412.1	-	2	1793	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S	ZNF665_ENST00000396424.3_Missense_Mutation_p.P625S|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P560S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACCTATAAGGTTTTTCTCCA	0.393																																					p.P625S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1873T	19						.						98.0	106.0	103.0					19																	53667870		2202	4299	6501	58359682	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1678C>T	19.37:g.53667870G>A	ENSP00000469154:p.Pro560Ser	Somatic		Capture	Illumina HiSeq	Phase_I	58359682	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	12.90	2.077474	0.36662	.	.	ENSG00000197497	ENST00000396424	T	0.16743	2.32	2.4	0.0349	0.14185	.	.	.	.	.	T	0.30947	0.0781	L	0.60957	1.885	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10314	-1.0635	9	0.51188	T	0.08	.	5.2361	0.15446	0.1223:0.0:0.6766:0.201	.	625	Q9H7R5-2	.	S	625	ENSP00000379702:P625S	ENSP00000379702:P625S	P	-	1	0	ZNF665	58359682	0.932000	0.31603	0.001000	0.08648	0.008000	0.06430	2.357000	0.44125	-0.050000	0.13356	-0.300000	0.09419	CCT		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF665	79788	broad.mit.edu	37	19	53669150	53669150	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53669150C>A	ENST00000600412.1	-	2	513	c.398G>T	c.(397-399)aGa>aTa	p.R133I	ZNF665_ENST00000396424.3_Missense_Mutation_p.R198I|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R133I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGTATGAATTCTCTTATGACT	0.388																																					p.R198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593T	19						.						121.0	133.0	129.0					19																	53669150		2199	4299	6498	58360962	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.398G>T	19.37:g.53669150C>A	ENSP00000469154:p.Arg133Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58360962	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292343	0.23564	.	.	ENSG00000197497	ENST00000396424	T	0.24908	1.83	2.06	-0.47	0.12131	.	.	.	.	.	T	0.32823	0.0842	L	0.49778	1.585	0.09310	N	1	D	0.76494	0.999	P	0.61533	0.89	T	0.14811	-1.0459	9	0.41790	T	0.15	.	3.528	0.07766	0.0:0.3824:0.2026:0.4149	.	198	Q9H7R5-2	.	I	198	ENSP00000379702:R198I	ENSP00000379702:R198I	R	-	2	0	ZNF665	58360962	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-3.976000	0.00321	-0.218000	0.10018	0.543000	0.68304	AGA		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF677	342926	broad.mit.edu	37	19	53740628	53740628	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53740628C>A	ENST00000598513.1	-	5	1502	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	ZNF677_ENST00000333952.4_Missense_Mutation_p.R451I	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R451I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGTGTGAATTCTCTGATGTTC	0.393																																					p.R451I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1352T	19						.						51.0	49.0	50.0					19																	53740628		2203	4300	6503	58432440	SO:0001583	missense	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1352G>T	19.37:g.53740628C>A	ENSP00000469391:p.Arg451Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58432440	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.640997	0.29157	.	.	ENSG00000197928	ENST00000333952	T	0.24908	1.83	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001728	T	0.39733	0.1089	M	0.67517	2.055	0.40570	D	0.981294	D	0.71674	0.998	D	0.64237	0.923	T	0.26467	-1.0102	10	0.49607	T	0.09	.	6.8865	0.24206	0.0:0.7088:0.2912:0.0	.	451	Q86XU0	ZN677_HUMAN	I	451	ENSP00000334394:R451I	ENSP00000334394:R451I	R	-	2	0	ZNF677	58432440	0.000000	0.05858	0.996000	0.52242	0.992000	0.81027	0.843000	0.27640	1.559000	0.49555	0.655000	0.94253	AGA		0.393	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
ZNF677	342926	broad.mit.edu	37	19	53741625	53741625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53741625C>A	ENST00000598513.1	-	5	505	c.355G>T	c.(355-357)Gga>Tga	p.G119*	ZNF677_ENST00000333952.4_Nonsense_Mutation_p.G119*|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G119*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAGGCATTCCTTTGTAATTT	0.353																																					p.G119X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G355T	19						.						126.0	120.0	122.0					19																	53741625		2203	4299	6502	58433437	SO:0001587	stop_gained	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.355G>T	19.37:g.53741625C>A	ENSP00000469391:p.Gly119*	Somatic		Capture	Illumina HiSeq	Phase_I	58433437	NM_182609		Nonsense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433378	0.62844	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	.	.	.	2.29	-1.07	0.09968	.	0.793223	0.10340	N	0.686443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	6.4165	0.21719	0.0:0.6022:0.0:0.3978	.	.	.	.	X	119	.	ENSP00000334394:G119X	G	-	1	0	ZNF677	58433437	0.000000	0.05858	0.004000	0.12327	0.608000	0.37181	0.006000	0.13152	-0.172000	0.10779	0.655000	0.94253	GGA		0.353	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
ZNF677	342926	broad.mit.edu	37	19	53741766	53741766	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:53741766T>G	ENST00000598513.1	-	5	364	c.214A>C	c.(214-216)Aat>Cat	p.N72H	ZNF677_ENST00000333952.4_Missense_Mutation_p.N72H|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N72H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTTATTATTTTCCTTTGGT	0.338																																					p.N72H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A214C	19						.						40.0	41.0	41.0					19																	53741766		2198	4256	6454	58433578	SO:0001583	missense	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.214A>C	19.37:g.53741766T>G	ENSP00000469391:p.Asn72His	Somatic		Capture	Illumina HiSeq	Phase_I	58433578	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	T	5.246	0.230886	0.09969	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07444	3.19	2.29	-1.09	0.09904	Krueppel-associated box (1);	1.015140	0.07930	N	0.977374	T	0.03178	0.0093	N	0.11427	0.14	0.09310	N	1	P	0.43352	0.804	B	0.28784	0.094	T	0.41431	-0.9509	10	0.45353	T	0.12	.	6.2445	0.20810	0.0:0.5603:0.0:0.4397	.	72	Q86XU0	ZN677_HUMAN	H	72	ENSP00000334394:N72H	ENSP00000334394:N72H	N	-	1	0	ZNF677	58433578	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.662000	0.25038	-0.201000	0.10284	-0.242000	0.12053	AAT		0.338	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
NLRP12	91662	broad.mit.edu	37	19	54308565	54308565	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:54308565G>A	ENST00000324134.6	-	5	2551	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	NLRP12_ENST00000351894.4_Missense_Mutation_p.R795W|NLRP12_ENST00000391773.1_Missense_Mutation_p.R796W|NLRP12_ENST00000391775.3_Missense_Mutation_p.R795W|NLRP12_ENST00000354278.3_Missense_Mutation_p.R795W|NLRP12_ENST00000345770.5_Missense_Mutation_p.R796W|NLRP12_ENST00000391772.1_Missense_Mutation_p.R796W|NLRP12_ENST00000535162.1_Missense_Mutation_p.R795W	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	795					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R795W(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGGGATGCCGCAGGCCCTCG	0.517																																					p.R795W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2383T	19						.						89.0	87.0	88.0					19																	54308565		2203	4300	6503	59000377	SO:0001583	missense	91662	exon5			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2383C>T	19.37:g.54308565G>A	ENSP00000319377:p.Arg795Trp	Somatic		Capture	Illumina HiSeq	Phase_I	59000377	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394442	0.42410	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	3.48	1.21	0.21127	.	1.079570	0.07470	U	0.902107	T	0.71888	0.3393	M	0.87827	2.91	0.09310	N	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.997	P;D;P;P;P	0.77557	0.794;0.99;0.794;0.719;0.836	T	0.51934	-0.8642	10	0.87932	D	0	.	3.9703	0.09451	0.1288:0.0:0.6374:0.2338	.	796;78;795;795;795	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	W	795;795;795;795;78;795;796;796;796	ENSP00000319377:R795W;ENSP00000438030:R795W;ENSP00000340473:R795W;ENSP00000346231:R795W;ENSP00000375655:R795W;ENSP00000375653:R796W;ENSP00000375652:R796W	ENSP00000319377:R795W	R	-	1	2	NLRP12	59000377	0.000000	0.05858	0.003000	0.11579	0.140000	0.21249	0.398000	0.20899	0.274000	0.22072	0.472000	0.43445	CGG		0.517	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
CNOT3	4849	broad.mit.edu	37	19	54651998	54651998	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:54651998C>T	ENST00000406403.1	+	10	2613	c.1010C>T	c.(1009-1011)aCt>aTt	p.T337I	CNOT3_ENST00000221232.5_Missense_Mutation_p.T337I|CNOT3_ENST00000358389.3_Missense_Mutation_p.T156I			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	337	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.T156I(1)|p.T337I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTGAGCACCACTCCTGGCAAC	0.711																																					p.T337I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1010T	19						.						20.0	22.0	22.0					19																	54651998		2197	4296	6493	59343810	SO:0001583	missense	4849	exon11			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1010C>T	19.37:g.54651998C>T	ENSP00000383954:p.Thr337Ile	Somatic		Capture	Illumina HiSeq	Phase_I	59343810	NM_014516	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.46|12.46	1.945225|1.945225	0.34283|0.34283	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000358389;ENST00000406403	.|T;T;T	.|0.64618	.|0.88;-0.11;0.88	3.3|3.3	2.15|2.15	0.27550|0.27550	.|.	.|1.189610	.|0.05981	.|N	.|0.644126	T|T	0.44519|0.44519	0.1297|0.1297	N|N	0.14661|0.14661	0.345|0.345	0.22968|0.22968	N|N	0.998498|0.998498	.|B;B;B	.|0.26400	.|0.01;0.148;0.01	.|B;B;B	.|0.26517	.|0.014;0.07;0.014	T|T	0.25916|0.25916	-1.0118|-1.0118	5|10	.|0.19590	.|T	.|0.45	-4.5483|-4.5483	9.4692|9.4692	0.38831|0.38831	0.0:0.5632:0.4368:0.0|0.0:0.5632:0.4368:0.0	.|.	.|337;337;261	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	F|I	259|337;156;337	.|ENSP00000221232:T337I;ENSP00000351159:T156I;ENSP00000383954:T337I	.|ENSP00000221232:T337I	L|T	+|+	1|2	0|0	CNOT3|CNOT3	59343810|59343810	0.001000|0.001000	0.12720|0.12720	0.908000|0.908000	0.35775|0.35775	0.095000|0.095000	0.18619|0.18619	0.708000|0.708000	0.25719|0.25719	1.865000|1.865000	0.54081|0.54081	0.313000|0.313000	0.20887|0.20887	CTC|ACT		0.711	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	
LILRB3	11025	broad.mit.edu	37	19	54722658	54722658	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:54722658C>T	ENST00000391750.1	-	10	1612	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	LILRB3_ENST00000245620.9_Silent_p.E492E|LILRA6_ENST00000270464.5_Silent_p.E492E|LILRB3_ENST00000346401.6_Silent_p.E504E|LILRB3_ENST00000424807.1_Silent_p.E492E|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Silent_p.E509E|LILRA6_ENST00000419410.2_Silent_p.E492E|LILRA6_ENST00000440558.2_Silent_p.E492E|LILRA6_ENST00000391735.3_3'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	492					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E492E(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTTGGGCTCTGTCTCCG	0.577																																					p.E492E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1476A	19						.						113.0	115.0	114.0					19																	54722658		2203	4300	6503	59414470	SO:0001819	synonymous_variant	11025	exon9			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1476G>A	19.37:g.54722658C>T		Somatic		Capture	Illumina HiSeq	Phase_I	59414470	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
LILRB5	10990	broad.mit.edu	37	19	54756398	54756398	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:54756398G>A	ENST00000316219.5	-	10	1593	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Missense_Mutation_p.P497S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P397S|LILRB5_ENST00000450632.1_Missense_Mutation_p.P488S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	496					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.P496T(1)|p.P488S(1)|p.P496S(1)|p.P488T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCCTGCAGGACGGTAGAAA	0.597																																					p.P497S												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C1489T	19						.						84.0	81.0	82.0					19																	54756398		2203	4300	6503	59448210	SO:0001583	missense	10990	exon10			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1486C>T	19.37:g.54756398G>A	ENSP00000320390:p.Pro496Ser	Somatic		Capture	Illumina HiSeq	Phase_I	59448210	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365921	0.24684	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00557	6.73;6.75;6.77;6.62	1.91	1.91	0.25777	.	.	.	.	.	T	0.01387	0.0045	L	0.59912	1.85	0.09310	N	1	D;P;B;P	0.89917	1.0;0.537;0.022;0.473	D;B;B;B	0.83275	0.996;0.321;0.026;0.085	T	0.53078	-0.8489	9	0.48119	T	0.1	.	7.3327	0.26592	0.0:0.0:1.0:0.0	.	488;397;497;496	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	496;488;497;397	ENSP00000320390:P496S;ENSP00000414225:P488S;ENSP00000406478:P497S;ENSP00000263430:P397S	ENSP00000320390:P496S	P	-	1	0	LILRB5	59448210	0.000000	0.05858	0.020000	0.16555	0.005000	0.04900	0.315000	0.19451	1.360000	0.45960	0.460000	0.39030	CCT		0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
LILRA3	11026	broad.mit.edu	37	19	54800067	54800067	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:54800067G>A	ENST00000251390.3	-	7	1390	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	LILRA3_ENST00000391745.1_Silent_p.S450S|LILRA3_ENST00000391744.3_Silent_p.S369S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	433					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S433S(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTTGGAGTCGGACTTGTTTT	0.507																																					p.S433S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1299T	19						.						138.0	109.0	119.0					19																	54800067		2203	4300	6503	59491879	SO:0001819	synonymous_variant	11026	exon7			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1299C>T	19.37:g.54800067G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59491879	NM_006865	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	CCDS12887.1																																																																																				0.507	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		
KIR3DL1	3811	broad.mit.edu	37	19	55333172	55333172	+	Missense_Mutation	SNP	C	C	T	rs374761764		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:55333172C>T	ENST00000391728.4	+	5	841	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R175C|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R270C|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R270C|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R270C|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R270C	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	270	Ig-like C2-type 3.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R270C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGCAGTGCGCAAGGTCAA	0.587																																					p.R270C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C808T	19						.						11.0	11.0	11.0					19																	55333172		1960	3906	5866	60024984	SO:0001583	missense	3811	exon5			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.808C>T	19.37:g.55333172C>T	ENSP00000375608:p.Arg270Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60024984	NM_013289	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	10.22	1.289076	0.23478	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	1.47	0.376	0.16193	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38401	0.1039	M	0.82823	2.61	0.09310	N	1	D;D;D;D	0.61697	0.99;0.989;0.99;0.989	P;P;P;P	0.53360	0.724;0.661;0.646;0.538	T	0.23013	-1.0200	9	0.72032	D	0.01	.	4.1032	0.10025	0.0:0.7682:0.0:0.2318	.	270;175;270;270	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	C	270;270;270;248;270;270;175	ENSP00000384528:R270C;ENSP00000443350:R270C;ENSP00000442355:R270C;ENSP00000375608:R270C;ENSP00000326868:R270C;ENSP00000350901:R175C	ENSP00000326868:R270C	R	+	1	0	KIR3DL1	60024984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.117000	0.10708	0.201000	0.20466	-1.206000	0.01644	CGC		0.587	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
SYT5	6861	broad.mit.edu	37	19	55686283	55686283	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:55686283T>G	ENST00000354308.3	-	7	1162	c.793A>C	c.(793-795)Aac>Cac	p.N265H	SYT5_ENST00000537500.1_Missense_Mutation_p.N265H|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Missense_Mutation_p.N261H|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	265	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.N265H(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TTCTTCAGGTTTTTAGCCTCC	0.587																																					p.N265H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A793C	19						.						130.0	124.0	126.0					19																	55686283		2203	4300	6503	60378095	SO:0001583	missense	6861	exon7			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.793A>C	19.37:g.55686283T>G	ENSP00000346265:p.Asn265His	Somatic		Capture	Illumina HiSeq	Phase_I	60378095	NM_003180	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160391	0.78226	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.74947	-0.89;-0.89	3.98	3.98	0.46160	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.77406	2.37	0.52501	D	0.999953	P;D;D	0.65815	0.919;0.995;0.982	P;P;D	0.65987	0.702;0.859;0.94	D	0.85135	0.0977	10	0.51188	T	0.08	.	12.5346	0.56135	0.0:0.0:0.0:1.0	.	261;264;265	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	H	265;265;261	ENSP00000442896:N265H;ENSP00000346265:N265H	ENSP00000346265:N265H	N	-	1	0	SYT5	60378095	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.112000	0.71547	1.765000	0.52091	0.254000	0.18369	AAC		0.587	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	
BRSK1	84446	broad.mit.edu	37	19	55798442	55798442	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:55798442G>T	ENST00000309383.1	+	2	481	c.204G>T	c.(202-204)gaG>gaT	p.E68D	BRSK1_ENST00000585418.1_Missense_Mutation_p.E68D|BRSK1_ENST00000590333.1_Missense_Mutation_p.E84D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E68D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGAACCGGGAGAAGCTGTCGG	0.652																																					p.E68D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G204T	19						.						119.0	99.0	106.0					19																	55798442		2203	4300	6503	60490254	SO:0001583	missense	84446	exon2			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.204G>T	19.37:g.55798442G>T	ENSP00000310649:p.Glu68Asp	Somatic		Capture	Illumina HiSeq	Phase_I	60490254	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.306504	0.23736	.	.	ENSG00000160469	ENST00000309383	T	0.66099	-0.19	4.57	3.53	0.40419	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	0.51278	0.1665	N	0.16098	0.37	0.80722	D	1	P;P	0.44659	0.84;0.808	P;P	0.51415	0.669;0.54	T	0.50734	-0.8793	10	0.45353	T	0.12	.	7.1776	0.25753	0.2745:0.0:0.7255:0.0	.	68;84	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	D	68	ENSP00000310649:E68D	ENSP00000310649:E68D	E	+	3	2	BRSK1	60490254	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	2.581000	0.46077	1.238000	0.43771	-0.270000	0.10280	GAG		0.652	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
BRSK1	84446	broad.mit.edu	37	19	55814694	55814694	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:55814694G>T	ENST00000309383.1	+	11	1321	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	BRSK1_ENST00000326848.7_Missense_Mutation_p.K43N|BRSK1_ENST00000590333.1_Missense_Mutation_p.K364N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	348	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.K348N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACCAAGAAAAGATGATATATT	0.547																																					p.K348N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1044T	19						.						75.0	72.0	73.0					19																	55814694		2203	4300	6503	60506506	SO:0001583	missense	84446	exon11			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1044G>T	19.37:g.55814694G>T	ENSP00000310649:p.Lys348Asn	Somatic		Capture	Illumina HiSeq	Phase_I	60506506	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	14.16	2.451290	0.43531	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.74632	-0.86;0.16	3.96	2.91	0.33838	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.79926	2.475	0.50632	D	0.999888	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	D	0.83622	0.0140	10	0.72032	D	0.01	.	8.1639	0.31215	0.2001:0.0:0.7999:0.0	.	348;364	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	N	348;43;43	ENSP00000310649:K348N;ENSP00000320853:K43N	ENSP00000310649:K348N	K	+	3	2	BRSK1	60506506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.213000	0.32407	1.020000	0.39573	0.561000	0.74099	AAG		0.547	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
NLRP11	204801	broad.mit.edu	37	19	56313093	56313093	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:56313093G>T	ENST00000589093.1	-	5	2109	c.2016C>A	c.(2014-2016)gtC>gtA	p.V672V	NLRP11_ENST00000589824.2_Silent_p.V618V|NLRP11_ENST00000443188.1_Silent_p.V672V|NLRP11_ENST00000592953.1_Silent_p.V573V|NLRP11_ENST00000360133.3_Silent_p.V618V			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	672							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.V672V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAGCAGTCGAGACATAGGACA	0.448																																					p.V672V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2016A	19						.						101.0	91.0	95.0					19																	56313093		2203	4300	6503	61004905	SO:0001819	synonymous_variant	204801	exon7			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2016C>A	19.37:g.56313093G>T		Somatic		Capture	Illumina HiSeq	Phase_I	61004905	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	broad.mit.edu	37	19	56363647	56363647	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:56363647A>C	ENST00000301295.6	+	2	623	c.201A>C	c.(199-201)caA>caC	p.Q67H	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q67H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	67	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Q67P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGAACAACAAGCTTGGAACA	0.453																																					p.Q67H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A201C	19						.						82.0	83.0	82.0					19																	56363647		2203	4300	6503	61055459	SO:0001583	missense	147945	exon2			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.201A>C	19.37:g.56363647A>C	ENSP00000301295:p.Gln67His	Somatic		Capture	Illumina HiSeq	Phase_I	61055459	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.391152	0.25118	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.51325	0.71;0.71	4.46	-5.41	0.02648	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.35682	0.0940	M	0.67397	2.05	0.09310	N	1	P	0.38551	0.636	B	0.36244	0.22	T	0.20874	-1.0262	9	0.33940	T	0.23	.	3.7149	0.08434	0.2293:0.1418:0.4896:0.1393	.	67	Q96MN2	NALP4_HUMAN	H	67	ENSP00000301295:Q67H;ENSP00000344787:Q67H	ENSP00000301295:Q67H	Q	+	3	2	NLRP4	61055459	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-3.516000	0.00445	-0.968000	0.03578	-0.261000	0.10672	CAA		0.453	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP4	147945	broad.mit.edu	37	19	56369498	56369498	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:56369498C>T	ENST00000301295.6	+	3	1161	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	NLRP4_ENST00000346986.5_Silent_p.L247L|NLRP4_ENST00000587891.1_Silent_p.L172L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	247	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L247L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGATTCGGATCTGTGTGGTGA	0.547																																					p.L247L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C739T	19						.						81.0	85.0	84.0					19																	56369498		2203	4300	6503	61061310	SO:0001819	synonymous_variant	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.739C>T	19.37:g.56369498C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61061310	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.547	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP13	126204	broad.mit.edu	37	19	56407361	56407361	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:56407361G>A	ENST00000342929.3	-	11	3081	c.3082C>T	c.(3082-3084)Cta>Tta	p.L1028L	NLRP13_ENST00000588751.1_Silent_p.L1028L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1028							ATP binding (GO:0005524)	p.L1028L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCTTACATAGCATCTTGACA	0.468																																					p.L1028L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3082T	19						.						198.0	184.0	189.0					19																	56407361		2203	4300	6503	61099173	SO:0001819	synonymous_variant	126204	exon11			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.3082C>T	19.37:g.56407361G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61099173	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																				0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
ZNF583	147949	broad.mit.edu	37	19	56935058	56935058	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:56935058G>T	ENST00000333201.9	+	5	1241	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R344I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	344					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.R344I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGCATCAGAGAATTCATACA	0.413																																					p.R344I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1031T	19						.						116.0	123.0	121.0					19																	56935058		2203	4300	6503	61626870	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1031G>T	19.37:g.56935058G>T	ENSP00000388502:p.Arg344Ile	Somatic		Capture	Illumina HiSeq	Phase_I	61626870	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527511	0.64860	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.33	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000196	T	0.50309	0.1608	M	0.81179	2.53	0.50813	D	0.999898	D	0.89917	1.0	D	0.80764	0.994	T	0.56080	-0.8038	9	.	.	.	.	15.2331	0.73407	0.0:0.5566:0.4434:0.0	.	344	Q96ND8	ZN583_HUMAN	I	344	ENSP00000291598:R344I;ENSP00000388502:R344I	.	R	+	2	0	ZNF583	61626870	0.000000	0.05858	0.640000	0.29408	0.996000	0.88848	-0.098000	0.11024	0.166000	0.19597	0.462000	0.41574	AGA		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF471	57573	broad.mit.edu	37	19	57036066	57036066	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57036066A>C	ENST00000308031.5	+	5	763	c.630A>C	c.(628-630)gaA>gaC	p.E210D	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E210D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AATGTAATGAATGTGACAAAA	0.323																																					p.E210D	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A630C	19						.						43.0	45.0	44.0					19																	57036066		2203	4300	6503	61727878	SO:0001583	missense	57573	exon5			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.630A>C	19.37:g.57036066A>C	ENSP00000309161:p.Glu210Asp	Somatic		Capture	Illumina HiSeq	Phase_I	61727878	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	8.021	0.759570	0.15846	.	.	ENSG00000196263	ENST00000308031	T	0.01165	5.24	4.2	0.791	0.18619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01124	0.0037	L	0.45470	1.425	0.49798	D	0.999824	B	0.06786	0.001	B	0.01281	0.0	T	0.55211	-0.8176	9	0.38643	T	0.18	.	1.1477	0.01779	0.518:0.1557:0.1759:0.1504	.	210	Q9BX82	ZN471_HUMAN	D	210	ENSP00000309161:E210D	ENSP00000309161:E210D	E	+	3	2	ZNF471	61727878	0.000000	0.05858	0.867000	0.34043	0.934000	0.57294	-1.368000	0.02580	-0.116000	0.11893	-0.400000	0.06385	GAA		0.323	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF471	57573	broad.mit.edu	37	19	57036281	57036281	+	Missense_Mutation	SNP	G	G	T	rs375659650		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57036281G>T	ENST00000308031.5	+	5	978	c.845G>T	c.(844-846)aGa>aTa	p.R282I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Nonsense_Mutation_p.E142*	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R282I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAGCATCAAAGAATTCATACT	0.393																																					p.R282I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G845T	19						.	G	ILE/ARG	0,4406		0,0,2203	128.0	140.0	136.0		845	2.7	0.5	19		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF471	NM_020813.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	282/627	57036281	1,13005	2203	4300	6503	61728093	SO:0001583	missense	57573	exon5			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.845G>T	19.37:g.57036281G>T	ENSP00000309161:p.Arg282Ile	None		Capture	Illumina HiSeq	Phase_I	61728093	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058668	0.55325	0.0	1.16E-4	ENSG00000196263	ENST00000308031	T	0.24908	1.83	3.71	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.66439	2.03	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.16719	-1.0393	9	0.49607	T	0.09	.	6.8525	0.24022	0.2199:0.0:0.7801:0.0	.	282	Q9BX82	ZN471_HUMAN	I	282	ENSP00000309161:R282I	ENSP00000309161:R282I	R	+	2	0	ZNF471	61728093	0.000000	0.05858	0.451000	0.26982	0.981000	0.71138	0.133000	0.15912	0.769000	0.33313	0.462000	0.41574	AGA		0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF471	57573	broad.mit.edu	37	19	57036804	57036804	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57036804G>A	ENST00000308031.5	+	5	1501	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E456E(1)|p.E456D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATTCTGGAGAGAAACCGTATG	0.383																																					p.E456E	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1368A	19						.						91.0	88.0	89.0					19																	57036804		2203	4300	6503	61728616	SO:0001819	synonymous_variant	57573	exon5			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1368G>A	19.37:g.57036804G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61728616	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Silent	SNP	ENST00000308031.5	37	CCDS12945.1																																																																																				0.383	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZFP28	140612	broad.mit.edu	37	19	57060379	57060379	+	Silent	SNP	C	C	T	rs111547322		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57060379C>T	ENST00000301318.3	+	5	647	c.576C>T	c.(574-576)tgC>tgT	p.C192C	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Silent_p.C192C	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C192C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGACTTCTGCGAAGGAAAGC	0.413																																					p.C192C	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	19						.						74.0	69.0	70.0					19																	57060379		2203	4300	6503	61752191	SO:0001819	synonymous_variant	140612	exon5				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.576C>T	19.37:g.57060379C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61752191	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	CCDS12946.1																																																																																				0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZNF470	388566	broad.mit.edu	37	19	57088934	57088934	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57088934G>A	ENST00000330619.8	+	6	1823	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.Q379Q	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q379Q(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTTTCAGGCAGAATGCTTCTC	0.423																																					p.Q379Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1137A	19						.						96.0	89.0	91.0					19																	57088934		2203	4300	6503	61780746	SO:0001819	synonymous_variant	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1137G>A	19.37:g.57088934G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61780746	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	37	CCDS33122.1																																																																																				0.423	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF835	90485	broad.mit.edu	37	19	57175471	57175471	+	Missense_Mutation	SNP	C	C	T	rs540450261		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57175471C>T	ENST00000537055.2	-	2	1327	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D388N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TTGCCGCAGTCGTGGCAGGGG	0.701													.|||	1	0.000199681	0.0	0.0	5008	,	,		17205	0.0		0.0	False		,,,				2504	0.001				p.D388N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162A	19						.						22.0	22.0	22.0					19																	57175471		2200	4296	6496	61867283	SO:0001583	missense	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1096G>A	19.37:g.57175471C>T	ENSP00000444747:p.Asp366Asn	Somatic		Capture	Illumina HiSeq	Phase_I	61867283	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679978	0.47886	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07327	3.2	1.93	-0.493	0.12038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06325	0.0163	N	0.10733	0.035	0.09310	N	1	D	0.61080	0.989	P	0.48524	0.58	T	0.41770	-0.9490	9	0.72032	D	0.01	.	10.1793	0.42957	0.0:0.6087:0.3913:0.0	.	388	Q9Y2P0	ZN835_HUMAN	N	388;366	ENSP00000444747:D366N	ENSP00000341756:D388N	D	-	1	0	ZNF835	61867283	0.000000	0.05858	0.041000	0.18516	0.073000	0.16967	-0.125000	0.10579	-0.037000	0.13646	-0.304000	0.09214	GAC		0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
PEG3	5178	broad.mit.edu	37	19	57326788	57326788	+	Missense_Mutation	SNP	G	G	A	rs116297129		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57326788G>A	ENST00000326441.9	-	10	3385	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1008C|PEG3_ENST00000593695.1_Missense_Mutation_p.R882C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R884C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1008					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1008C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCAAGCTGCGAATGACAGAC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20331	0.0		0.0	False		,,,				2504	0.0				p.R1008C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3022T	19						.						77.0	72.0	74.0					19																	57326788		2203	4300	6503	62018600	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3022C>T	19.37:g.57326788G>A	ENSP00000326581:p.Arg1008Cys	Somatic		Capture	Illumina HiSeq	Phase_I	62018600	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.18	1.861402	0.32884	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02944	4.1;4.1	4.55	1.31	0.21738	.	0.605398	0.14960	N	0.288402	T	0.05868	0.0153	M	0.64404	1.975	.	.	.	B;D;D	0.76494	0.029;0.997;0.999	B;P;P	0.52957	0.003;0.642;0.714	T	0.21552	-1.0242	9	0.59425	D	0.04	-9.9782	3.0184	0.06067	0.3078:0.0:0.4976:0.1946	.	884;1008;943	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	1008	ENSP00000326581:R1008C;ENSP00000403051:R1008C	ENSP00000326581:R1008C	R	-	1	0	ZIM2	62018600	0.000000	0.05858	0.945000	0.38365	0.289000	0.27227	0.003000	0.13083	0.661000	0.30985	0.655000	0.94253	CGC		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57328864	57328864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57328864C>A	ENST00000326441.9	-	10	1309	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.E316*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.E190*|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.E192*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	316					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E316*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGAATTTTTCCATTATCACT	0.468																																					p.E316X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G946T	19						.						68.0	71.0	70.0					19																	57328864		2203	4300	6503	62020676	SO:0001587	stop_gained	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.946G>T	19.37:g.57328864C>A	ENSP00000326581:p.Glu316*	Somatic		Capture	Illumina HiSeq	Phase_I	62020676	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	38	6.911090	0.97928	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	.	.	.	4.27	4.27	0.50696	.	0.141767	0.32503	N	0.006003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-22.8083	15.0108	0.71547	0.0:1.0:0.0:0.0	.	.	.	.	X	316;316;286	.	ENSP00000292074:E286X	E	-	1	0	ZIM2	62020676	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	1.995000	0.40767	2.665000	0.90641	0.561000	0.74099	GAA		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57334979	57334979	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57334979G>A	ENST00000326441.9	-	5	826	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	ZIM2_ENST00000391708.3_Missense_Mutation_p.H29Y|ZIM2_ENST00000221722.5_Missense_Mutation_p.H29Y|ZIM2_ENST00000593711.1_Missense_Mutation_p.H29Y|ZIM2_ENST00000599935.1_Missense_Mutation_p.H29Y|PEG3_ENST00000423103.2_Missense_Mutation_p.H155Y|PEG3_ENST00000593695.1_Missense_Mutation_p.H29Y|ZIM2_ENST00000601070.1_Missense_Mutation_p.H29Y|PEG3_ENST00000598410.1_Missense_Mutation_p.H29Y|ZIM2_ENST00000593931.1_Missense_Mutation_p.H29Y|PEG3_ENST00000594706.1_5'Flank	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	155					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H155Y(2)|p.H29Y(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGACTGAGTGAGGTGGTGAG	0.567																																					p.H155Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C463T	19						.						285.0	203.0	231.0					19																	57334979		2203	4300	6503	62026791	SO:0001583	missense	5178	exon2			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.463C>T	19.37:g.57334979G>A	ENSP00000326581:p.His155Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62026791	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522827	0.44866	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04406	3.63;3.63;4.23;4.23	4.29	3.25	0.37280	.	0.447865	0.19282	N	0.118136	T	0.02649	0.0080	N	0.14661	0.345	.	.	.	B;B;B;P	0.36144	0.044;0.044;0.018;0.539	B;B;B;B	0.25759	0.011;0.016;0.011;0.063	T	0.24190	-1.0167	9	0.62326	D	0.03	-7.3014	8.2756	0.31871	0.1067:0.0:0.8933:0.0	.	29;155;88;29	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	Y	29;29;155;155;155	ENSP00000375589:H29Y;ENSP00000221722:H29Y;ENSP00000326581:H155Y;ENSP00000403051:H155Y	ENSP00000221722:H29Y	H	-	1	0	ZIM2	62026791	0.004000	0.15560	0.036000	0.18154	0.002000	0.02628	1.363000	0.34159	1.409000	0.46915	-0.140000	0.14226	CAC		0.567	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZIM3	114026	broad.mit.edu	37	19	57646302	57646302	+	Missense_Mutation	SNP	C	C	A	rs539722568		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57646302C>A	ENST00000269834.1	-	5	1788	c.1403G>T	c.(1402-1404)aGa>aTa	p.R468I	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R468I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGTGAATTCTTTTCTGGTG	0.423																																					p.R468I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1403T	19						.						110.0	109.0	109.0					19																	57646302		2203	4300	6503	62338114	SO:0001583	missense	114026	exon5			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1403G>T	19.37:g.57646302C>A	ENSP00000269834:p.Arg468Ile	Somatic		Capture	Illumina HiSeq	Phase_I	62338114	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229992	0.39399	.	.	ENSG00000141946	ENST00000269834	T	0.05925	3.37	2.12	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	M	0.82193	2.58	0.39476	D	0.967801	B	0.17852	0.024	B	0.11329	0.006	T	0.03403	-1.1040	9	0.56958	D	0.05	.	6.7666	0.23571	0.0:0.8413:0.0:0.1587	.	468	Q96PE6	ZIM3_HUMAN	I	468	ENSP00000269834:R468I	ENSP00000269834:R468I	R	-	2	0	ZIM3	62338114	0.001000	0.12720	0.387000	0.26183	0.407000	0.30961	0.466000	0.22019	0.438000	0.26450	0.313000	0.20887	AGA		0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZIM3	114026	broad.mit.edu	37	19	57648308	57648308	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57648308G>T	ENST00000269834.1	-	4	559	c.174C>A	c.(172-174)atC>atA	p.I58I	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I58I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAACCTCAAGATCACATCGG	0.522																																					p.I58I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174A	19						.						285.0	199.0	228.0					19																	57648308		2203	4300	6503	62340120	SO:0001819	synonymous_variant	114026	exon4			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.174C>A	19.37:g.57648308G>T		Somatic		Capture	Illumina HiSeq	Phase_I	62340120	NM_052882	Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.522	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
AURKC	6795	broad.mit.edu	37	19	57744021	57744021	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57744021G>T	ENST00000302804.7	+	4	594	c.408G>T	c.(406-408)gaG>gaT	p.E136D	AURKC_ENST00000415300.2_Missense_Mutation_p.E117D|AURKC_ENST00000448930.1_Missense_Mutation_p.E102D|AURKC_ENST00000599062.1_Missense_Mutation_p.E133D|AURKC_ENST00000598785.1_Missense_Mutation_p.E102D	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E102D(1)|p.E136D(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGAAAAGCGAGAAATTAGATG	0.542																																					p.E102D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G306T	19						.						79.0	75.0	76.0					19																	57744021		2203	4300	6503	62435833	SO:0001583	missense	6795	exon4				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.408G>T	19.37:g.57744021G>T	ENSP00000302898:p.Glu136Asp	Somatic		Capture	Illumina HiSeq	Phase_I	62435833	NM_003160	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	2.865	-0.235326	0.05983	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.07688	3.17;3.17;3.17	3.81	-2.5	0.06384	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.241270	0.05255	N	0.514711	T	0.05914	0.0154	N	0.16130	0.375	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.003;0.001;0.006	T	0.44174	-0.9345	10	0.36615	T	0.2	8.0E-4	11.0119	0.47667	0.1234:0.3503:0.5263:0.0	.	133;136;117	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	D	117;102;136	ENSP00000407162:E117D;ENSP00000406798:E102D;ENSP00000302898:E136D	ENSP00000302898:E136D	E	+	3	2	AURKC	62435833	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.486000	0.06513	-0.303000	0.08856	-0.305000	0.09177	GAG		0.542	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ZNF543	125919	broad.mit.edu	37	19	57839659	57839659	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57839659C>A	ENST00000321545.4	+	4	1174	c.829C>A	c.(829-831)Cac>Aac	p.H277N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	277					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.H277N(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGCGGATTCACAGTGGAGA	0.527																																					p.H277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C829A	19						.						54.0	54.0	54.0					19																	57839659		2203	4300	6503	62531471	SO:0001583	missense	125919	exon4			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.829C>A	19.37:g.57839659C>A	ENSP00000322545:p.His277Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62531471	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708963	0.68615	.	.	ENSG00000178229	ENST00000321545	T	0.67345	-0.26	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85022	0.5602	M	0.93420	3.415	0.32448	N	0.545797	D	0.65815	0.995	D	0.83275	0.996	D	0.88334	0.2970	9	0.87932	D	0	.	12.9749	0.58532	0.0:1.0:0.0:0.0	.	277	Q08ER8	ZN543_HUMAN	N	277	ENSP00000322545:H277N	ENSP00000322545:H277N	H	+	1	0	ZNF543	62531471	1.000000	0.71417	0.971000	0.41717	0.840000	0.47671	5.253000	0.65452	1.750000	0.51863	0.561000	0.74099	CAC		0.527	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
ZNF543	125919	broad.mit.edu	37	19	57840047	57840047	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57840047G>A	ENST00000321545.4	+	4	1562	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	406					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.R406H(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCGTTCAACCGTAGGTCACAC	0.498																																					p.R406H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217A	19						.						104.0	78.0	87.0					19																	57840047		2203	4300	6503	62531859	SO:0001583	missense	125919	exon4			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1217G>A	19.37:g.57840047G>A	ENSP00000322545:p.Arg406His	Somatic		Capture	Illumina HiSeq	Phase_I	62531859	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722049	0.03182	.	.	ENSG00000178229	ENST00000321545	T	0.07327	3.2	2.89	-1.9	0.07665	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.25485	0.75	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46512	-0.9186	9	0.02654	T	1	.	7.6687	0.28447	0.715:0.0:0.285:0.0	.	406	Q08ER8	ZN543_HUMAN	H	406	ENSP00000322545:R406H	ENSP00000322545:R406H	R	+	2	0	ZNF543	62531859	0.000000	0.05858	0.004000	0.12327	0.559000	0.35586	-1.887000	0.01617	-0.191000	0.10448	-0.291000	0.09656	CGT		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
ACER1	125981	broad.mit.edu	37	19	6312503	6312503	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6312503T>C	ENST00000301452.4	-	2	178	c.101A>G	c.(100-102)aAt>aGt	p.N34S		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	34					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.N34S(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAGGGGATATTGGAGAACTG	0.572																																					p.N34S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101G	19						.						94.0	81.0	86.0					19																	6312503		2203	4300	6503	6263503	SO:0001583	missense	125981	exon2			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.101A>G	19.37:g.6312503T>C	ENSP00000301452:p.Asn34Ser	Somatic		Capture	Illumina HiSeq	Phase_I	6263503	NM_133492		Missense_Mutation	SNP	ENST00000301452.4	37	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753806	0.49362	.	.	ENSG00000167769	ENST00000301452	T	0.58060	0.36	5.18	5.18	0.71444	.	0.040721	0.85682	D	0.000000	T	0.55033	0.1895	L	0.45581	1.43	0.58432	D	0.99999	P	0.48089	0.905	P	0.49752	0.621	T	0.57177	-0.7856	10	0.51188	T	0.08	-26.487	13.2608	0.60104	0.0:0.0:0.0:1.0	.	34	Q8TDN7	ACER1_HUMAN	S	34	ENSP00000301452:N34S	ENSP00000301452:N34S	N	-	2	0	ACER1	6263503	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	3.323000	0.52014	2.087000	0.62958	0.402000	0.26972	AAT		0.572	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	
ZNF17	7565	broad.mit.edu	37	19	57932571	57932571	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57932571C>T	ENST00000601808.1	+	3	1924	c.1711C>T	c.(1711-1713)Cgg>Tgg	p.R571W	ZNF17_ENST00000307658.7_Missense_Mutation_p.R573W|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	571					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.R571W(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCACCTCATTCGGCACCAAAA	0.403																																					p.R571W	Melanoma(149;1637 1853 29914 42869 44988)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1711T	19						.						52.0	51.0	51.0					19																	57932571		1994	4202	6196	62624383	SO:0001583	missense	7565	exon3			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1711C>T	19.37:g.57932571C>T	ENSP00000471905:p.Arg571Trp	Somatic		Capture	Illumina HiSeq	Phase_I	62624383	NM_006959	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944162	0.53079	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.3	-3.64	0.04515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54255	0.1847	M	0.85710	2.77	0.09310	N	1	D;B	0.89917	1.0;0.075	D;B	0.64144	0.922;0.015	T	0.50083	-0.8869	8	0.66056	D	0.02	.	0.276	0.00238	0.2666:0.1987:0.2854:0.2493	.	573;571	P17021-2;P17021	.;ZNF17_HUMAN	W	571	.	ENSP00000302455:R571W	R	+	1	2	ZNF17	62624383	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-15.654000	0.00000	-0.463000	0.06973	0.467000	0.42956	CGG		0.403	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959	
VN1R1	57191	broad.mit.edu	37	19	57967221	57967221	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57967221C>T	ENST00000321039.3	-	1	633	c.634G>A	c.(634-636)Gca>Aca	p.A212T	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	212					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.A212T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CTCTTTGATGCTTTGTAAGAA	0.388																																					p.A212T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634A	19						.						103.0	98.0	100.0					19																	57967221		2203	4300	6503	62659033	SO:0001583	missense	57191	exon1			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.634G>A	19.37:g.57967221C>T	ENSP00000322339:p.Ala212Thr	Somatic		Capture	Illumina HiSeq	Phase_I	62659033	NM_020633	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	C	5.784	0.329064	0.10956	.	.	ENSG00000178201	ENST00000321039	T	0.36699	1.24	3.79	-0.0899	0.13667	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16171	0.0389	N	0.05414	-0.055	0.09310	N	1	B	0.23806	0.091	B	0.30943	0.122	T	0.34354	-0.9832	9	0.18276	T	0.48	.	3.471	0.07567	0.1635:0.2533:0.0:0.5832	.	212	Q9GZP7	VN1R1_HUMAN	T	212	ENSP00000322339:A212T	ENSP00000322339:A212T	A	-	1	0	VN1R1	62659033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.159000	0.10056	-0.219000	0.10003	-0.555000	0.04198	GCA		0.388	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633	
ZNF772	400720	broad.mit.edu	37	19	57985282	57985282	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:57985282C>T	ENST00000343280.4	-	5	1090	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	277					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.R277H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGAGTCTTTGCGGCTGAAGGT	0.488																																					p.R277H	Melanoma(5;289 436 14293 15924 30817)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830A	19						.						111.0	106.0	108.0					19																	57985282		2203	4300	6503	62677094	SO:0001583	missense	400720	exon5			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.830G>A	19.37:g.57985282C>T	ENSP00000341165:p.Arg277His	Somatic		Capture	Illumina HiSeq	Phase_I	62677094	NM_001024596	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798193	0.31777	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.01034	5.42;5.42;5.42	3.54	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	L	0.31578	0.945	0.80722	D	1	B;P;D	0.65815	0.437;0.492;0.995	B;B;D	0.63488	0.011;0.028;0.915	T	0.72431	-0.4296	9	0.18276	T	0.48	.	4.924	0.13883	0.0:0.7489:0.0:0.2511	.	165;236;277	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	H	277;165;236;202	ENSP00000341165:R277H;ENSP00000395967:R165H;ENSP00000348992:R236H	ENSP00000291809:R202H	R	-	2	0	ZNF772	62677094	0.000000	0.05858	1.000000	0.80357	0.861000	0.49209	-1.674000	0.01949	2.007000	0.58848	0.305000	0.20034	CGC		0.488	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596	
ZNF418	147686	broad.mit.edu	37	19	58437534	58437534	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:58437534C>A	ENST00000396147.1	-	4	2306	c.2015G>T	c.(2014-2016)aGa>aTa	p.R672I	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R672I|ZNF418_ENST00000599852.1_Missense_Mutation_p.R587I|ZNF418_ENST00000425570.3_Missense_Mutation_p.R693I	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	672					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.R672I(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTAAGGACTTCTTTCTGTGTG	0.413																																					p.R672I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2015T	19						.						76.0	80.0	79.0					19																	58437534		2178	4295	6473	63129346	SO:0001583	missense	147686	exon4			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.2015G>T	19.37:g.58437534C>A	ENSP00000379451:p.Arg672Ile	Somatic		Capture	Illumina HiSeq	Phase_I	63129346	NM_133460	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	5.867	0.344081	0.11126	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07444	3.19;3.19	1.7	-3.41	0.04839	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04048	0.0113	N	0.11892	0.195	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.38001	-0.9681	9	0.87932	D	0	.	4.2521	0.10700	0.0:0.4063:0.1929:0.4008	.	672	Q8TF45	ZN418_HUMAN	I	672;693;638	ENSP00000379451:R672I;ENSP00000407039:R693I	ENSP00000379451:R672I	R	-	2	0	ZNF418	63129346	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.281000	0.02802	-1.612000	0.01579	-1.786000	0.00637	AGA		0.413	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460	
ZNF256	10172	broad.mit.edu	37	19	58453802	58453802	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:58453802T>G	ENST00000282308.3	-	3	570	c.374A>C	c.(373-375)aAa>aCa	p.K125T	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	125					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K125T(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TTGTAATTGTTTCCTACATGC	0.453																																					p.K125T	NSCLC(55;1313 1552 8040 11996)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A374C	19						.						255.0	220.0	232.0					19																	58453802		2203	4300	6503	63145614	SO:0001583	missense	10172	exon3			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.374A>C	19.37:g.58453802T>G	ENSP00000282308:p.Lys125Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63145614	NM_005773	B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	9.922	1.212559	0.22289	.	.	ENSG00000152454	ENST00000282308	T	0.36340	1.26	2.94	1.89	0.25635	.	.	.	.	.	T	0.40473	0.1118	M	0.91717	3.235	0.09310	N	1	P	0.37781	0.608	B	0.29942	0.109	T	0.43180	-0.9407	9	0.72032	D	0.01	.	6.1438	0.20275	0.0:0.0:0.2624:0.7376	.	125	Q9Y2P7	ZN256_HUMAN	T	125	ENSP00000282308:K125T	ENSP00000282308:K125T	K	-	2	0	ZNF256	63145614	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.915000	0.04033	0.337000	0.23665	0.383000	0.25322	AAA		0.453	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1		
C19orf18	147685	broad.mit.edu	37	19	58477983	58477983	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:58477983G>A	ENST00000314391.3	-	4	387	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	96						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P96S(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ACAAGAGCAGGTCTATGCCGA	0.338																																					p.P96S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286T	19						.						59.0	60.0	59.0					19																	58477983		2203	4300	6503	63169795	SO:0001583	missense	147685	exon4			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.286C>T	19.37:g.58477983G>A	ENSP00000321519:p.Pro96Ser	Somatic		Capture	Illumina HiSeq	Phase_I	63169795	NM_152474		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009411	0.35415	.	.	ENSG00000177025	ENST00000314391	T	0.53423	0.62	4.1	3.07	0.35406	.	0.327227	0.22518	N	0.059016	T	0.41050	0.1142	N	0.20986	0.625	0.29486	N	0.856004	D	0.65815	0.995	P	0.53518	0.728	T	0.24548	-1.0157	10	0.39692	T	0.17	-17.1428	7.8996	0.29727	0.1107:0.0:0.8893:0.0	.	96	Q8NEA5	CS018_HUMAN	S	96	ENSP00000321519:P96S	ENSP00000321519:P96S	P	-	1	0	C19orf18	63169795	1.000000	0.71417	0.996000	0.52242	0.450000	0.32258	1.381000	0.34362	1.317000	0.45149	0.644000	0.83932	CCT		0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
ZNF135	7694	broad.mit.edu	37	19	58578832	58578832	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:58578832A>C	ENST00000313434.5	+	5	1081	c.980A>C	c.(979-981)gAg>gCg	p.E327A	ZNF135_ENST00000401053.4_Missense_Mutation_p.E351A|ZNF135_ENST00000506786.1_Missense_Mutation_p.E285A|ZNF135_ENST00000511556.1_Missense_Mutation_p.E339A|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Missense_Mutation_p.E339A|ZNF135_ENST00000439855.2_Missense_Mutation_p.E327A	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	327					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E327A(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAGCCCTACGAGTGCAGTGAG	0.552																																					p.E339A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1016C	19						.						53.0	50.0	51.0					19																	58578832		2203	4300	6503	63270644	SO:0001583	missense	7694	exon5			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.980A>C	19.37:g.58578832A>C	ENSP00000321406:p.Glu327Ala	Somatic		Capture	Illumina HiSeq	Phase_I	63270644	NM_003436	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.422|2.422	-0.332872|-0.332872	0.05314|0.05314	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T;T|.	0.36157|.	1.27;3.19;1.27;1.27;1.27;1.27|.	3.19|3.19	2.15|2.15	0.27550|0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.23766|0.23766	0.0575|0.0575	N|N	0.17723|0.17723	0.515|0.515	0.09310|0.09310	N|N	1|1	P;P;B|.	0.35894|.	0.488;0.526;0.002|.	B;P;B|.	0.45712|.	0.345;0.491;0.005|.	T|T	0.23190|0.23190	-1.0195|-1.0195	9|5	0.56958|.	D|.	0.05|.	.|.	8.3963|8.3963	0.32559|0.32559	0.5697:0.4303:0.0:0.0|0.5697:0.4303:0.0:0.0	.|.	339;327;339|.	E9PEV2;P52742;Q8N1I7|.	.;ZN135_HUMAN;.|.	A|R	339;351;339;327;327;339;285|345	ENSP00000441410:E351A;ENSP00000369437:E339A;ENSP00000444828:E327A;ENSP00000321406:E327A;ENSP00000422074:E339A;ENSP00000427691:E285A|.	ENSP00000321406:E327A|.	E|S	+|+	2|1	0|0	ZNF135|ZNF135	63270644|63270644	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.003000|0.003000	0.03518|0.03518	-1.099000|-1.099000	0.03343|0.03343	0.456000|0.456000	0.26937|0.26937	0.460000|0.460000	0.39030|0.39030	GAG|AGT		0.552	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
GAMT	2593	broad.mit.edu	37	19	1398846	1398846	+	Intron	DEL	A	A	-			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:1398846delA	ENST00000252288.2	-	5	637				GAMT_ENST00000447102.3_Frame_Shift_Del_p.A213fs|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)	p.G214fs*12(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		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)	Creatine(DB00148)|Guanidine(DB00536)	AGGTGGCTCCAGCAGCCCCTT	0.582																																					p.A213fs	Colon(167;1531 1939 13427 28842 31956)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.639delT	19						.						43.0	37.0	39.0					19																	1398846		1327	2309	3636	1349846	SO:0001627	intron_variant	2593	exon5			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.570+68T>-	19.37:g.1398846delA		Somatic		Capture	Illumina HiSeq	Phase_I	1349846	NM_138924	A8K0A0|Q53Y34|Q8WVJ1	Frame_Shift_Del	DEL	ENST00000252288.2	37	CCDS12064.1																																																																																				0.582	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1	NM_138924	
SLC25A41	284427	broad.mit.edu	37	19	6430170	6430170	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6430170G>T	ENST00000321510.6	-	3	434	c.366C>A	c.(364-366)gtC>gtA	p.V122V		NM_173637.3	NP_775908.2			solute carrier family 25, member 41									p.V122V(1)		large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TGGAGGAGTAGACCTGGGTGG	0.682																																					p.V122V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366A	19						.						29.0	33.0	32.0					19																	6430170		1993	4166	6159	6381170	SO:0001819	synonymous_variant	284427	exon3			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.366C>A	19.37:g.6430170G>T		Somatic		Capture	Illumina HiSeq	Phase_I	6381170	NM_173637		Silent	SNP	ENST00000321510.6	37	CCDS45937.1	.	.	.	.	.	.	.	.	.	.	g	9.406	1.079149	0.20227	.	.	ENSG00000181240	ENST00000458275	T	0.46063	0.88	4.24	-2.67	0.06059	.	0.062027	0.64402	D	0.000005	T	0.31857	0.0810	.	.	.	0.23620	N	0.997273	.	.	.	.	.	.	T	0.28808	-1.0032	7	0.87932	D	0	-26.031	1.727	0.02924	0.1678:0.3733:0.2107:0.2482	.	.	.	.	Y	155	ENSP00000405411:S155Y	ENSP00000405411:S155Y	S	-	2	0	SLC25A41	6381170	0.006000	0.16342	0.954000	0.39281	0.242000	0.25591	-1.411000	0.02478	-0.561000	0.06094	0.416000	0.27883	TCT		0.682	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462222.1	NM_173637	
CD70	970	broad.mit.edu	37	19	6590915	6590915	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6590915G>A	ENST00000245903.3	-	1	248	c.99C>T	c.(97-99)tgC>tgT	p.C33C	CD70_ENST00000423145.3_Silent_p.C33C	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	33					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)	p.C33C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						ACACCACGAGGCAGATCACCA	0.622																																					p.C33C	Pancreas(183;2617 2876 10173 34193)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	19						.						68.0	70.0	69.0					19																	6590915		2203	4300	6503	6541915	SO:0001819	synonymous_variant	970	exon1			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.99C>T	19.37:g.6590915G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6541915	NM_001252	B4DPR8|Q53XX4|Q96J57	Silent	SNP	ENST00000245903.3	37	CCDS12170.1																																																																																				0.622	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1		
C3	718	broad.mit.edu	37	19	6677953	6677953	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6677953T>C	ENST00000245907.6	-	41	5024	c.4932A>G	c.(4930-4932)aaA>aaG	p.K1644K	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1644	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.K1644K(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTGGCATTGTTTCTGGTTCT	0.567																																					p.K1644K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4932G	19						.						143.0	111.0	121.0					19																	6677953		2203	4300	6503	6628953	SO:0001819	synonymous_variant	718	exon41			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4932A>G	19.37:g.6677953T>C		Somatic		Capture	Illumina HiSeq	Phase_I	6628953	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
C3	718	broad.mit.edu	37	19	6694611	6694611	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6694611G>A	ENST00000245907.6	-	24	3077	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	995					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.V995V(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTTCCGCGTCGACGGCATCCT	0.627																																					p.V995V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2985T	19						.						59.0	49.0	53.0					19																	6694611		2203	4300	6503	6645611	SO:0001819	synonymous_variant	718	exon24			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2985C>T	19.37:g.6694611G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6645611	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.627	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
EMR1	2015	broad.mit.edu	37	19	6890528	6890528	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6890528G>T	ENST00000312053.4	+	2	105	c.68G>T	c.(67-69)aGa>aTa	p.R23I	EMR1_ENST00000450315.3_Missense_Mutation_p.R23I|EMR1_ENST00000381404.4_Missense_Mutation_p.R23I|EMR1_ENST00000250572.8_Missense_Mutation_p.R23I|EMR1_ENST00000381407.5_Missense_Mutation_p.R23I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	23					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R23I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGGCACATAAGACCCACACGG	0.423																																					p.R23I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68T	19						.						105.0	81.0	89.0					19																	6890528		2203	4300	6503	6841528	SO:0001583	missense	2015	exon2			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.68G>T	19.37:g.6890528G>T	ENSP00000311545:p.Arg23Ile	Somatic		Capture	Illumina HiSeq	Phase_I	6841528	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	0.269	-0.993892	0.02145	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78481	-1.15;-1.18;-1.18;0.01;0.3	2.02	-4.04	0.04010	.	.	.	.	.	T	0.49133	0.1539	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26002	0.001;0.139;0.002;0.005;0.001	B;B;B;B;B	0.19666	0.002;0.026;0.006;0.007;0.004	T	0.11641	-1.0579	9	0.38643	T	0.18	.	0.734	0.00962	0.2208:0.3162:0.2436:0.2194	.	23;23;23;23;23	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	I	23	ENSP00000311545:R23I;ENSP00000370811:R23I;ENSP00000250572:R23I;ENSP00000370814:R23I;ENSP00000405974:R23I	ENSP00000250572:R23I	R	+	2	0	EMR1	6841528	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.473000	0.06615	-3.813000	0.00104	-1.045000	0.02358	AGA		0.423	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
EMR1	2015	broad.mit.edu	37	19	6916286	6916286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:6916286G>T	ENST00000312053.4	+	12	1364	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	EMR1_ENST00000450315.3_Nonsense_Mutation_p.E266*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.E391*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.E443*|EMR1_ENST00000381407.5_Nonsense_Mutation_p.E302*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	443	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E443*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TATCAACAAAGAATGCAGTGA	0.428																																					p.E443X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1327T	19						.						174.0	162.0	166.0					19																	6916286		2203	4300	6503	6867286	SO:0001587	stop_gained	2015	exon12			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1327G>T	19.37:g.6916286G>T	ENSP00000311545:p.Glu443*	Somatic		Capture	Illumina HiSeq	Phase_I	6867286	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Nonsense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717806	0.89205	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.0977	0.59202	0.0:0.0:1.0:0.0	.	.	.	.	X	443;443;391;443;302;266	.	ENSP00000250572:E443X	E	+	1	0	EMR1	6867286	0.012000	0.17670	0.099000	0.21106	0.025000	0.11179	1.755000	0.38379	2.148000	0.66965	0.591000	0.81541	GAA		0.428	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
XAB2	56949	broad.mit.edu	37	19	7692702	7692702	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:7692702C>T	ENST00000358368.4	-	3	273	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	XAB2_ENST00000534844.1_Missense_Mutation_p.R76Q|PET100_ENST00000594797.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	79					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R76Q(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CACCTGTGCCCGACGCGCCTT	0.547								Direct reversal of damage;Nucleotide excision repair (NER)																													p.R79Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236A	19						.						121.0	104.0	109.0					19																	7692702		2203	4300	6503	7598702	SO:0001583	missense	56949	exon3			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.236G>A	19.37:g.7692702C>T	ENSP00000351137:p.Arg79Gln	Somatic		Capture	Illumina HiSeq	Phase_I	7598702	NM_020196	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271499	0.40194	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.62232	0.04;0.04	5.27	3.16	0.36331	Tetratricopeptide-like helical (1);	0.068846	0.56097	D	0.000024	T	0.58750	0.2144	M	0.72479	2.2	0.47621	D	0.999472	B	0.26635	0.155	B	0.23574	0.047	T	0.57406	-0.7817	10	0.52906	T	0.07	-21.4759	10.3666	0.44028	0.0:0.8389:0.0:0.1611	.	79	Q9HCS7	SYF1_HUMAN	Q	79;76	ENSP00000351137:R79Q;ENSP00000438225:R76Q	ENSP00000351137:R79Q	R	-	2	0	XAB2	7598702	1.000000	0.71417	0.357000	0.25798	0.986000	0.74619	7.211000	0.77933	0.615000	0.30124	0.655000	0.94253	CGG		0.547	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196	
CD209	30835	broad.mit.edu	37	19	7810873	7810873	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:7810873C>A	ENST00000315599.7	-	4	301	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CD209_ENST00000354397.6_Missense_Mutation_p.E93D|CD209_ENST00000204801.8_Missense_Mutation_p.E49D|CD209_ENST00000601951.1_Missense_Mutation_p.E69D|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.E49D|CD209_ENST00000315591.8_Missense_Mutation_p.E69D|CD209_ENST00000601256.1_Missense_Mutation_p.E69D|CD209_ENST00000301357.8_Missense_Mutation_p.E49D|CD209_ENST00000593660.1_Missense_Mutation_p.E69D|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.E93D	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	93					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.E93D(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTTGGATTTCTCTGAGAGCT	0.542																																					p.E49D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G147T	19						.						132.0	131.0	131.0					19																	7810873		2203	4297	6500	7716873	SO:0001583	missense	30835	exon2			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.279G>T	19.37:g.7810873C>A	ENSP00000315477:p.Glu93Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7716873	NM_001144894	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	6.212	0.407214	0.11754	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.03004	4.09;4.47;4.08;4.08;4.09	0.585	-0.603	0.11630	.	.	.	.	.	T	0.12050	0.0293	M	0.71581	2.175	0.09310	N	1	D;D;P;B;D;D;D;D;D;D	0.69078	0.994;0.987;0.65;0.004;0.997;0.996;0.996;0.966;0.974;0.993	D;D;P;B;D;D;D;P;D;D	0.81914	0.941;0.937;0.83;0.024;0.967;0.995;0.989;0.878;0.953;0.99	T	0.12319	-1.0552	8	0.40728	T	0.16	.	.	.	.	.	93;69;49;49;69;93;93;69;69;93	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	D	93;93;69;49;93;49;77	ENSP00000315477:E93D;ENSP00000346373:E93D;ENSP00000315407:E69D;ENSP00000204801:E49D;ENSP00000301357:E49D	ENSP00000204801:E49D	E	-	3	2	CD209	7716873	0.006000	0.16342	0.003000	0.11579	0.035000	0.12851	-0.475000	0.06599	-0.277000	0.09193	0.400000	0.26472	GAG		0.542	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
SNAPC2	6618	broad.mit.edu	37	19	7987206	7987206	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:7987206G>A	ENST00000221573.6	+	4	710	c.659G>A	c.(658-660)gGc>gAc	p.G220D	SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	220					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G220D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCCGAAGTGGCCGCAGCCCC	0.592																																					p.G220D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	19						.						61.0	64.0	63.0					19																	7987206		2203	4300	6503	7893206	SO:0001583	missense	6618	exon4			U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.659G>A	19.37:g.7987206G>A	ENSP00000221573:p.Gly220Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7893206	NM_003083	B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964541	0.34659	.	.	ENSG00000104976	ENST00000221573	T	0.62232	0.04	4.55	4.55	0.56014	.	0.708754	0.13918	N	0.353746	T	0.70710	0.3255	L	0.54323	1.7	0.22185	N	0.999305	D	0.76494	0.999	D	0.72338	0.977	T	0.59364	-0.7468	10	0.09084	T	0.74	-5.2542	12.6937	0.56990	0.0:0.0:1.0:0.0	.	220	Q13487	SNPC2_HUMAN	D	220	ENSP00000221573:G220D	ENSP00000221573:G220D	G	+	2	0	SNAPC2	7893206	0.002000	0.14202	0.177000	0.23020	0.127000	0.20565	1.059000	0.30517	2.365000	0.80145	0.450000	0.29827	GGC		0.592	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083	
MYO1F	4542	broad.mit.edu	37	19	8591709	8591709	+	Missense_Mutation	SNP	G	G	A	rs528354232		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:8591709G>A	ENST00000338257.8	-	23	2852	c.2585C>T	c.(2584-2586)gCg>gTg	p.A862V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	862	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A862V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCGCGTCGCCTCCTCGAA	0.662																																					p.A862V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2585T	19						.						24.0	28.0	27.0					19																	8591709		2135	4235	6370	8497709	SO:0001583	missense	4542	exon23			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2585C>T	19.37:g.8591709G>A	ENSP00000344871:p.Ala862Val	Somatic		Capture	Illumina HiSeq	Phase_I	8497709	NM_012335	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616335	0.46736	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.38560	1.13	5.83	-2.41	0.06562	Myosin tail 2 (1);	0.938784	0.08928	N	0.873391	T	0.21801	0.0525	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22591	-1.0212	10	0.26408	T	0.33	.	5.7186	0.17974	0.4946:0.2643:0.2411:0.0	.	862	O00160	MYO1F_HUMAN	V	907;862	ENSP00000344871:A862V	ENSP00000304899:A907V	A	-	2	0	MYO1F	8497709	0.003000	0.15002	0.628000	0.29241	0.938000	0.57974	0.300000	0.19156	-0.119000	0.11830	0.650000	0.86243	GCG		0.662	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		
ZNF558	148156	broad.mit.edu	37	19	8922049	8922049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:8922049C>A	ENST00000601372.1	-	10	1828	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	ZNF558_ENST00000301475.1_Nonsense_Mutation_p.E373*|ZNF558_ENST00000444186.2_Nonsense_Mutation_p.E302*			Q96NG5	ZN558_HUMAN	zinc finger protein 558	373					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.E373*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGGGTTTTTCTCCAGTGTGA	0.388																																					p.E373X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1117T	19						.						87.0	88.0	88.0					19																	8922049		2203	4300	6503	8783049	SO:0001587	stop_gained	148156	exon6			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.1117G>T	19.37:g.8922049C>A	ENSP00000471277:p.Glu373*	Somatic		Capture	Illumina HiSeq	Phase_I	8783049	NM_144693	A8K5F0|B7Z798	Nonsense_Mutation	SNP	ENST00000601372.1	37	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	40	8.129772	0.98667	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	.	.	.	4.91	3.85	0.44370	.	0.170728	0.28301	N	0.015856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.6409	0.56709	0.0:0.8248:0.1752:0.0	.	.	.	.	X	373;302	.	ENSP00000301475:E373X	E	-	1	0	ZNF558	8783049	0.996000	0.38824	0.996000	0.52242	0.993000	0.82548	3.426000	0.52778	1.251000	0.43983	0.467000	0.42956	GAA		0.388	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693	
MBD3L1	85509	broad.mit.edu	37	19	8953679	8953679	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:8953679C>A	ENST00000595891.1	+	3	556	c.325C>A	c.(325-327)Ctt>Att	p.L109I	MBD3L1_ENST00000305625.2_Missense_Mutation_p.L109I			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L109I(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCTGGAGGATCTTGCCAGTGG	0.532																																					p.L109I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C325A	19						.						90.0	77.0	82.0					19																	8953679		2203	4300	6503	8814679	SO:0001583	missense	85509	exon1			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.325C>A	19.37:g.8953679C>A	ENSP00000471575:p.Leu109Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8814679	NM_145208	B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	C	1.861	-0.462646	0.04508	.	.	ENSG00000170948	ENST00000305625	T	0.47177	0.85	3.7	-1.1	0.09872	.	0.797403	0.09970	N	0.732419	T	0.25568	0.0622	L	0.31420	0.93	0.09310	N	1	B	0.18166	0.026	B	0.19148	0.024	T	0.26087	-1.0113	10	0.07325	T	0.83	-3.6719	2.6562	0.05013	0.1771:0.3709:0.3459:0.1061	.	109	Q8WWY6	MB3L1_HUMAN	I	109	ENSP00000304198:L109I	ENSP00000304198:L109I	L	+	1	0	MBD3L1	8814679	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.011000	0.12721	-0.080000	0.12685	0.655000	0.94253	CTT		0.532	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208	
MUC16	94025	broad.mit.edu	37	19	9015680	9015680	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9015680C>T	ENST00000397910.4	-	29	38346	c.38143G>A	c.(38143-38145)Gac>Aac	p.D12715N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12717	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D12715N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAATGCATGTCCTCCTCGTAC	0.527																																					p.D12715N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38143A	19						.						207.0	182.0	190.0					19																	9015680		2007	4156	6163	8876680	SO:0001583	missense	94025	exon29			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38143G>A	19.37:g.9015680C>T	ENSP00000381008:p.Asp12715Asn	Somatic		Capture	Illumina HiSeq	Phase_I	8876680	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.982	0.975456	0.18736	.	.	ENSG00000181143	ENST00000397910	T	0.56611	0.45	3.44	2.38	0.29361	.	.	.	.	.	T	0.54046	0.1834	L	0.39085	1.19	.	.	.	P	0.48694	0.914	P	0.57324	0.818	T	0.62464	-0.6849	8	0.87932	D	0	.	7.1287	0.25488	0.0:0.8654:0.0:0.1346	.	12715	B5ME49	.	N	12715	ENSP00000381008:D12715N	ENSP00000381008:D12715N	D	-	1	0	MUC16	8876680	0.022000	0.18835	0.009000	0.14445	0.067000	0.16453	1.047000	0.30367	0.538000	0.28769	0.305000	0.20034	GAC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9047925	9047925	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9047925C>A	ENST00000397910.4	-	5	33909	c.33706G>T	c.(33706-33708)Gac>Tac	p.D11236Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11238	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D11236Y(1)|p.D6869Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCCATGAGTCTATGGTCTCT	0.478																																					p.D11236Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G33706T	19						.						64.0	57.0	59.0					19																	9047925		1912	4119	6031	8908925	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33706G>T	19.37:g.9047925C>A	ENSP00000381008:p.Asp11236Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8908925	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.126	0.208778	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	3.21	-2.47	0.06442	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	.	.	.	B	0.27192	0.171	B	0.31245	0.126	T	0.42865	-0.9426	8	0.87932	D	0	.	7.1561	0.25639	0.0:0.3631:0.0:0.6369	.	11236	B5ME49	.	Y	11236	ENSP00000381008:D11236Y	ENSP00000381008:D11236Y	D	-	1	0	MUC16	8908925	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.012000	0.01451	-0.418000	0.07450	-0.224000	0.12420	GAC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9049274	9049274	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9049274G>A	ENST00000397910.4	-	5	32560	c.32357C>T	c.(32356-32358)tCg>tTg	p.S10786L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10788	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S10786L(1)|p.S6419L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACAGCAGGCGAGATAGTTGA	0.493																																					p.S10786L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C32357T	19						.						151.0	137.0	141.0					19																	9049274		1979	4162	6141	8910274	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32357C>T	19.37:g.9049274G>A	ENSP00000381008:p.Ser10786Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8910274	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.863	0.726505	0.15439	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.9	0.698	0.18087	.	.	.	.	.	T	0.02193	0.0068	L	0.32530	0.975	.	.	.	P	0.50272	0.933	B	0.36845	0.234	T	0.44097	-0.9350	8	0.87932	D	0	.	5.7684	0.18239	0.2326:0.0:0.7674:0.0	.	10786	B5ME49	.	L	10786	ENSP00000381008:S10786L	ENSP00000381008:S10786L	S	-	2	0	MUC16	8910274	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.463000	0.06696	0.274000	0.22072	0.473000	0.43528	TCG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9049458	9049458	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9049458G>A	ENST00000397910.4	-	5	32376	c.32173C>T	c.(32173-32175)Cca>Tca	p.P10725S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10727	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P10725S(1)|p.P6358S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCATAATTGGAATAGCTGAA	0.448																																					p.P10725S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C32173T	19						.						240.0	212.0	221.0					19																	9049458		1916	4137	6053	8910458	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32173C>T	19.37:g.9049458G>A	ENSP00000381008:p.Pro10725Ser	Somatic		Capture	Illumina HiSeq	Phase_I	8910458	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.395	0.440915	0.12104	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	3.18	-0.915	0.10494	.	.	.	.	.	T	0.02888	0.0086	L	0.36672	1.1	.	.	.	B	0.32573	0.376	B	0.28784	0.094	T	0.38993	-0.9635	8	0.87932	D	0	.	3.4002	0.07320	0.3062:0.2127:0.4812:0.0	.	10725	B5ME49	.	S	10725	ENSP00000381008:P10725S	ENSP00000381008:P10725S	P	-	1	0	MUC16	8910458	0.003000	0.15002	0.000000	0.03702	0.045000	0.14185	0.010000	0.13242	-0.070000	0.12908	0.479000	0.44913	CCA		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9056421	9056421	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9056421G>T	ENST00000397910.4	-	3	31228	c.31025C>A	c.(31024-31026)tCt>tAt	p.S10342Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10344	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5975Y(1)|p.S10342Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGTTGAAGAATCAGTGGT	0.532																																					p.S10342Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C31025A	19						.						114.0	110.0	112.0					19																	9056421		2018	4185	6203	8917421	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31025C>A	19.37:g.9056421G>T	ENSP00000381008:p.Ser10342Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8917421	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.464	0.645335	0.14451	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	3.69	1.55	0.23275	.	.	.	.	.	T	0.05227	0.0139	N	0.19112	0.55	.	.	.	D	0.69078	0.997	D	0.65684	0.937	T	0.36696	-0.9737	8	0.87932	D	0	.	6.2732	0.20966	0.2292:0.0:0.7708:0.0	.	10342	B5ME49	.	Y	10342	ENSP00000381008:S10342Y	ENSP00000381008:S10342Y	S	-	2	0	MUC16	8917421	0.000000	0.05858	0.004000	0.12327	0.245000	0.25701	-0.120000	0.10660	0.542000	0.28846	-0.349000	0.07799	TCT		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9057561	9057561	+	Missense_Mutation	SNP	G	G	T	rs199849046		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9057561G>T	ENST00000397910.4	-	3	30088	c.29885C>A	c.(29884-29886)tCt>tAt	p.S9962Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9964	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S9962Y(1)|p.S5595Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCCAGGAGAACTTTTTTG	0.483																																					p.S9962Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C29885A	19						.	G	TYR/SER	0,3932		0,0,1966	257.0	250.0	252.0		29885	-2.6	0.0	19		252	2,8316		0,2,4157	yes	missense	MUC16	NM_024690.2	144	0,2,6123	TT,TG,GG		0.024,0.0,0.0163	possibly-damaging	9962/14508	9057561	2,12248	1966	4159	6125	8918561	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29885C>A	19.37:g.9057561G>T	ENSP00000381008:p.Ser9962Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8918561	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.744	-0.052935	0.07362	0.0	2.4E-4	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.22	-2.61	0.06171	.	.	.	.	.	T	0.01454	0.0047	N	0.19112	0.55	.	.	.	P	0.39157	0.662	B	0.24006	0.05	T	0.44682	-0.9312	8	0.87932	D	0	.	3.3362	0.07102	0.1581:0.0:0.3206:0.5213	.	9962	B5ME49	.	Y	9962	ENSP00000381008:S9962Y	ENSP00000381008:S9962Y	S	-	2	0	MUC16	8918561	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.009000	0.12765	-0.459000	0.07013	-0.384000	0.06662	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9061151	9061151	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9061151G>T	ENST00000397910.4	-	3	26498	c.26295C>A	c.(26293-26295)atC>atA	p.I8765I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8767	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I8765I(2)|p.I4398I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCCGTGGAGATTTCTGGTG	0.512																																					p.I8765I												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C26295A	19						.						155.0	140.0	145.0					19																	9061151		1974	4151	6125	8922151	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26295C>A	19.37:g.9061151G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8922151	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9062107	9062107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9062107C>A	ENST00000397910.4	-	3	25542	c.25339G>T	c.(25339-25341)Gag>Tag	p.E8447*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8449	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E8447*(2)|p.E4080*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAGACCTCAGTGGTAGCA	0.532																																					p.E8447X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G25339T	19						.						101.0	96.0	98.0					19																	9062107		1977	4175	6152	8923107	SO:0001587	stop_gained	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25339G>T	19.37:g.9062107C>A	ENSP00000381008:p.Glu8447*	Somatic		Capture	Illumina HiSeq	Phase_I	8923107	NM_024690	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	59	39.521935	0.99985	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.89	-2.36	0.06663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	0.4824	0.00550	0.2048:0.3554:0.1848:0.255	.	.	.	.	X	8447	.	ENSP00000381008:E8447X	E	-	1	0	MUC16	8923107	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.117000	0.15583	-0.361000	0.08125	-0.742000	0.03525	GAG		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9062246	9062246	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9062246G>T	ENST00000397910.4	-	3	25403	c.25200C>A	c.(25198-25200)ttC>ttA	p.F8400L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8402	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F8400L(2)|p.F4033L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCAAAGAAGTCAGAAG	0.502																																					p.F8400L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C25200A	19						.						116.0	110.0	112.0					19																	9062246		1988	4171	6159	8923246	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25200C>A	19.37:g.9062246G>T	ENSP00000381008:p.Phe8400Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8923246	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.291	0.611112	0.14066	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.69	-5.38	0.02673	.	.	.	.	.	T	0.09069	0.0224	N	0.11427	0.14	.	.	.	B	0.20988	0.05	B	0.20184	0.028	T	0.33548	-0.9864	8	0.87932	D	0	.	4.9791	0.14155	0.2399:0.0:0.5929:0.1672	.	8400	B5ME49	.	L	8400	ENSP00000381008:F8400L	ENSP00000381008:F8400L	F	-	3	2	MUC16	8923246	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.906000	0.01590	-1.333000	0.02247	0.394000	0.25966	TTC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9062987	9062987	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9062987G>T	ENST00000397910.4	-	3	24662	c.24459C>A	c.(24457-24459)gtC>gtA	p.V8153V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8155	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V8153V(2)|p.V3786V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCCTGGAGACTTCAGCAG	0.547																																					p.V8153V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C24459A	19						.						120.0	117.0	118.0					19																	9062987		2040	4202	6242	8923987	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24459C>A	19.37:g.9062987G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8923987	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9066497	9066497	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9066497G>T	ENST00000397910.4	-	3	21152	c.20949C>A	c.(20947-20949)gtC>gtA	p.V6983V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6985	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V6983V(2)|p.V2616V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCCTGGAGACCTCAGCAG	0.488																																					p.V6983V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C20949A	19						.						183.0	175.0	177.0					19																	9066497		1992	4183	6175	8927497	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20949C>A	19.37:g.9066497G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8927497	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9072279	9072279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9072279G>T	ENST00000397910.4	-	3	15370	c.15167C>A	c.(15166-15168)tCt>tAt	p.S5056Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5058	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5056Y(2)|p.S689Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAGGTAGAAGAAATCAGGGA	0.483																																					p.S5056Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C15167A	19						.						99.0	92.0	94.0					19																	9072279		1939	4130	6069	8933279	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15167C>A	19.37:g.9072279G>T	ENSP00000381008:p.Ser5056Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8933279	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.101	-0.405972	0.04832	.	.	ENSG00000181143	ENST00000397910	T	0.28666	1.6	1.46	-1.1	0.09872	.	.	.	.	.	T	0.15652	0.0377	L	0.27053	0.805	.	.	.	B	0.31383	0.321	B	0.23716	0.048	T	0.20706	-1.0267	8	0.87932	D	0	.	2.0681	0.03607	0.2094:0.0:0.4814:0.3092	.	5056	B5ME49	.	Y	5056	ENSP00000381008:S5056Y	ENSP00000381008:S5056Y	S	-	2	0	MUC16	8933279	0.001000	0.12720	0.000000	0.03702	0.080000	0.17528	0.335000	0.19806	-0.184000	0.10567	0.282000	0.19409	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9076314	9076314	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9076314G>T	ENST00000397910.4	-	3	11335	c.11132C>A	c.(11131-11133)tCt>tAt	p.S3711Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3712	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S3711Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGATCTGTAGAAACCATTGA	0.458																																					p.S3711Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11132A	19						.						117.0	114.0	115.0					19																	9076314		1969	4172	6141	8937314	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11132C>A	19.37:g.9076314G>T	ENSP00000381008:p.Ser3711Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8937314	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.636	-0.517682	0.04171	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.76	0.673	0.17941	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	.	.	.	P	0.47841	0.901	P	0.52481	0.7	T	0.44050	-0.9353	8	0.87932	D	0	.	4.3541	0.11169	0.2101:0.0:0.7899:0.0	.	3711	B5ME49	.	Y	3711	ENSP00000381008:S3711Y	ENSP00000381008:S3711Y	S	-	2	0	MUC16	8937314	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.085000	0.11250	0.285000	0.22329	0.313000	0.20887	TCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9082748	9082748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9082748C>T	ENST00000397910.4	-	1	9270	c.9067G>A	c.(9067-9069)Gca>Aca	p.A3023T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3024	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A3023T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGACCTTGCTGCTTGACCT	0.473																																					p.A3023T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9067A	19						.						114.0	115.0	115.0					19																	9082748		2081	4216	6297	8943748	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9067G>A	19.37:g.9082748C>T	ENSP00000381008:p.Ala3023Thr	Somatic		Capture	Illumina HiSeq	Phase_I	8943748	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.752	0.323112	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.773	-0.819	0.10829	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.47962	0.903	B	0.39805	0.31	T	0.46527	-0.9185	8	0.87932	D	0	.	3.5917	0.07991	0.4365:0.5635:0.0:0.0	.	3023	B5ME49	.	T	3023	ENSP00000381008:A3023T	ENSP00000381008:A3023T	A	-	1	0	MUC16	8943748	0.000000	0.05858	0.051000	0.19133	0.274000	0.26718	-0.809000	0.04510	-0.216000	0.10048	0.313000	0.20887	GCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9085764	9085764	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9085764C>A	ENST00000397910.4	-	1	6254	c.6051G>T	c.(6049-6051)gaG>gaT	p.E2017D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2017	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E2017D(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACTGAATTCTCATGGGTAG	0.458																																					p.E2017D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6051T	19						.						113.0	109.0	110.0					19																	9085764		1999	4168	6167	8946764	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6051G>T	19.37:g.9085764C>A	ENSP00000381008:p.Glu2017Asp	Somatic		Capture	Illumina HiSeq	Phase_I	8946764	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.559	-0.302256	0.05495	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	0.235	0.235	0.15431	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	P	0.35493	0.505	B	0.22386	0.039	T	0.44081	-0.9351	7	0.87932	D	0	.	.	.	.	.	2017	B5ME49	.	D	2017	ENSP00000381008:E2017D	ENSP00000381008:E2017D	E	-	3	2	MUC16	8946764	0.015000	0.18098	0.107000	0.21349	0.109000	0.19521	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAG		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9088345	9088345	+	Missense_Mutation	SNP	G	G	T	rs560462497		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9088345G>T	ENST00000397910.4	-	1	3673	c.3470C>A	c.(3469-3471)tCt>tAt	p.S1157Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1157	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1157Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGAAGGAGATGAGGACAA	0.493																																					p.S1157Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3470A	19						.						147.0	141.0	143.0					19																	9088345		2111	4244	6355	8949345	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3470C>A	19.37:g.9088345G>T	ENSP00000381008:p.Ser1157Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8949345	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.891	0.533979	0.13188	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.09	1.09	0.20402	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.68039	0.955	T	0.43507	-0.9387	8	0.87932	D	0	.	5.5403	0.17033	0.0:0.0:1.0:0.0	.	1157	B5ME49	.	Y	1157	ENSP00000381008:S1157Y	ENSP00000381008:S1157Y	S	-	2	0	MUC16	8949345	0.000000	0.05858	0.276000	0.24689	0.559000	0.35586	-0.278000	0.08490	0.898000	0.36418	0.305000	0.20034	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF699	374879	broad.mit.edu	37	19	9406286	9406286	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9406286A>G	ENST00000591998.1	-	6	2022	c.1794T>C	c.(1792-1794)tgT>tgC	p.C598C	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Silent_p.C598C			Q32M78	ZN699_HUMAN	zinc finger protein 699	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C598C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGATGAGGGACAACTGAAAG	0.438																																					p.C598C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1794C	19						.						88.0	95.0	93.0					19																	9406286		2199	4299	6498	9267286	SO:0001819	synonymous_variant	374879	exon5			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1794T>C	19.37:g.9406286A>G		Somatic		Capture	Illumina HiSeq	Phase_I	9267286	NM_198535	Q8N9A1	Silent	SNP	ENST00000591998.1	37	CCDS42495.1																																																																																				0.438	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535	
ZNF699	374879	broad.mit.edu	37	19	9407184	9407184	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9407184C>A	ENST00000591998.1	-	6	1124	c.896G>T	c.(895-897)aGa>aTa	p.R299I	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.R299I			Q32M78	ZN699_HUMAN	zinc finger protein 699	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R299I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTGTGAATTCTTTTGTGTTC	0.398																																					p.R299I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G896T	19						.						104.0	105.0	105.0					19																	9407184		2165	4275	6440	9268184	SO:0001583	missense	374879	exon5			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.896G>T	19.37:g.9407184C>A	ENSP00000467723:p.Arg299Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9268184	NM_198535	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.455802	0.43634	.	.	ENSG00000196110	ENST00000308650	T	0.24908	1.83	3.28	-0.0419	0.13865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001472	T	0.14700	0.0355	L	0.28649	0.875	0.09310	N	1	P	0.43607	0.812	B	0.38156	0.266	T	0.14392	-1.0474	10	0.62326	D	0.03	.	6.8495	0.24006	0.0:0.6544:0.0:0.3456	.	299	Q32M78	ZN699_HUMAN	I	299	ENSP00000311596:R299I	ENSP00000311596:R299I	R	-	2	0	ZNF699	9268184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.131000	0.15870	0.083000	0.17047	-0.273000	0.10243	AGA		0.398	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535	
ZNF266	10781	broad.mit.edu	37	19	9524066	9524066	+	Missense_Mutation	SNP	C	C	T	rs146314378		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9524066C>T	ENST00000592904.1	-	5	3611	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	ZNF266_ENST00000361151.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.R512Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.R512Q			Q14584	ZN266_HUMAN	zinc finger protein 266	512					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.R512Q(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGTGTGAGTTCGTTCATGTAA	0.438																																					p.R512Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1535A	19						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	98.0	77.0	84.0		1535,1535	-1.2	0.0	19	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ZNF266	NM_006631.2,NM_198058.1	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	512/550,512/550	9524066	2,13004	2203	4300	6503	9385066	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1535G>A	19.37:g.9524066C>T	ENSP00000466714:p.Arg512Gln	Somatic		Capture	Illumina HiSeq	Phase_I	9385066	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983888	0.74474	0.0	2.33E-4	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.24723	1.84;1.84	2.4	-1.18	0.09617	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45276	0.1334	M	0.77486	2.375	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.29640	-1.0005	9	0.72032	D	0.01	.	7.6122	0.28137	0.0:0.7087:0.0:0.2913	.	512	Q14584	ZN266_HUMAN	Q	512	ENSP00000354680:R512Q;ENSP00000355047:R512Q	ENSP00000355047:R512Q	R	-	2	0	ZNF266	9385066	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	0.055000	0.14229	-0.155000	0.11098	0.455000	0.32223	CGA		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
ZNF266	10781	broad.mit.edu	37	19	9524570	9524570	+	Missense_Mutation	SNP	C	C	T	rs149699312		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9524570C>T	ENST00000592904.1	-	5	3107	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	ZNF266_ENST00000361151.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.R344Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.R344Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.R344Q			Q14584	ZN266_HUMAN	zinc finger protein 266	344					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.R344Q(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGTGTGAATTCGAAAGTGATC	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.0				p.R344Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1031A	19						.						83.0	85.0	84.0					19																	9524570		2203	4300	6503	9385570	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1031G>A	19.37:g.9524570C>T	ENSP00000466714:p.Arg344Gln	Somatic		Capture	Illumina HiSeq	Phase_I	9385570	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.3	4.518506	0.85495	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.24723	1.84;1.84	2.53	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20941	0.0504	M	0.79123	2.44	0.09310	N	1	P	0.43973	0.823	B	0.22753	0.041	T	0.12760	-1.0535	9	0.72032	D	0.01	.	9.2142	0.37337	0.0:0.7652:0.0:0.2348	.	344	Q14584	ZN266_HUMAN	Q	344	ENSP00000354680:R344Q;ENSP00000355047:R344Q	ENSP00000355047:R344Q	R	-	2	0	ZNF266	9385570	0.000000	0.05858	0.011000	0.14972	0.984000	0.73092	-2.882000	0.00714	-0.464000	0.06963	0.555000	0.69702	CGA		0.393	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
ZNF560	147741	broad.mit.edu	37	19	9577428	9577428	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9577428C>T	ENST00000301480.4	-	10	2408	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	732					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.R732Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGTGTGAATTCGCACATGATT	0.398																																					p.R732Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2195A	19						.						113.0	106.0	109.0					19																	9577428		2203	4300	6503	9438428	SO:0001583	missense	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2195G>A	19.37:g.9577428C>T	ENSP00000301480:p.Arg732Gln	Somatic		Capture	Illumina HiSeq	Phase_I	9438428	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354893	0.24512	.	.	ENSG00000198028	ENST00000301480	T	0.24723	1.84	1.87	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23451	0.0567	M	0.73217	2.22	0.09310	N	1	B	0.34290	0.447	B	0.30572	0.117	T	0.16482	-1.0401	9	0.59425	D	0.04	.	6.4079	0.21674	0.0:0.58:0.0:0.42	.	732	Q96MR9	ZN560_HUMAN	Q	732	ENSP00000301480:R732Q	ENSP00000301480:R732Q	R	-	2	0	ZNF560	9438428	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.347000	0.01095	-0.398000	0.07679	-0.672000	0.03802	CGA		0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF560	147741	broad.mit.edu	37	19	9578674	9578674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9578674C>A	ENST00000301480.4	-	10	1162	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	317					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.E317*(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTGAGTTTTTCTCCACTCTGA	0.393																																					p.E317X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G949T	19						.						179.0	152.0	161.0					19																	9578674		2203	4300	6503	9439674	SO:0001587	stop_gained	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.949G>T	19.37:g.9578674C>A	ENSP00000301480:p.Glu317*	Somatic		Capture	Illumina HiSeq	Phase_I	9439674	NM_152476	Q495S9|Q495T1	Nonsense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072881	0.93950	.	.	ENSG00000198028	ENST00000301480	.	.	.	1.91	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.4628	0.21966	0.0:0.8305:0.0:0.1695	.	.	.	.	X	317	.	ENSP00000301480:E317X	E	-	1	0	ZNF560	9439674	0.000000	0.05858	0.001000	0.08648	0.546000	0.35178	0.390000	0.20768	0.351000	0.24027	0.491000	0.48974	GAA		0.393	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF121	7675	broad.mit.edu	37	19	9677298	9677298	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9677298C>T	ENST00000586602.1	-	6	907	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	ZNF121_ENST00000320451.6_Missense_Mutation_p.R164Q			P58317	ZN121_HUMAN	zinc finger protein 121	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R164Q(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTATGGGTTCGCATGTGACT	0.373																																					p.R164Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	19						.						76.0	74.0	74.0					19																	9677298		2203	4300	6503	9538298	SO:0001583	missense	7675	exon4			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.491G>A	19.37:g.9677298C>T	ENSP00000468643:p.Arg164Gln	Somatic		Capture	Illumina HiSeq	Phase_I	9538298	NM_001008727		Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	C	8.492	0.862150	0.17178	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.02369	4.32	1.3	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	L	0.52905	1.665	0.09310	N	1	P	0.45594	0.862	B	0.29942	0.109	T	0.41360	-0.9513	9	0.72032	D	0.01	.	4.9707	0.14113	0.0:0.4064:0.0:0.5936	.	164	P58317	ZN121_HUMAN	Q	164	ENSP00000326967:R164Q	ENSP00000326967:R164Q	R	-	2	0	ZNF121	9538298	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	0.072000	0.14617	-0.243000	0.09653	-0.327000	0.08410	CGA		0.373	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727	
ZNF562	54811	broad.mit.edu	37	19	9763872	9763872	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9763872T>G	ENST00000448622.1	-	6	1196	c.1034A>C	c.(1033-1035)gAa>gCa	p.E345A	ZNF562_ENST00000541032.1_Missense_Mutation_p.E308A|ZNF562_ENST00000590155.1_Missense_Mutation_p.E344A|ZNF562_ENST00000453372.2_Missense_Mutation_p.E345A|ZNF562_ENST00000293648.4_Missense_Mutation_p.E273A|ZNF562_ENST00000453792.2_Missense_Mutation_p.E276A|ZNF562_ENST00000537617.1_Missense_Mutation_p.E229A	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	345					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.E273A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCCTTACATTCATAGGGTTT	0.433																																					p.E345A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1034C	19						.						121.0	115.0	117.0					19																	9763872		2203	4297	6500	9624872	SO:0001583	missense	54811	exon6			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1034A>C	19.37:g.9763872T>G	ENSP00000411784:p.Glu345Ala	Somatic		Capture	Illumina HiSeq	Phase_I	9624872	NM_001130032	Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180438	0.57800	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	1.67	0.549	0.17213	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39200	0.1069	L	0.31207	0.915	0.09310	N	1	D;D;P;P;D	0.67145	0.974;0.979;0.749;0.889;0.996	D;D;B;P;D	0.73708	0.953;0.973;0.391;0.587;0.981	T	0.17806	-1.0357	9	0.62326	D	0.03	.	2.5121	0.04659	0.2723:0.0:0.277:0.4507	.	229;344;308;345;273	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	A	345;345;273;308;276;229	ENSP00000410734:E345A;ENSP00000411784:E345A;ENSP00000293648:E273A;ENSP00000442614:E308A;ENSP00000440451:E276A;ENSP00000445816:E229A	ENSP00000293648:E273A	E	-	2	0	ZNF562	9624872	0.000000	0.05858	0.019000	0.16419	0.936000	0.57629	-1.038000	0.03553	0.084000	0.17077	0.260000	0.18958	GAA		0.433	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656	
ZNF846	162993	broad.mit.edu	37	19	9868918	9868918	+	Nonsense_Mutation	SNP	C	C	A	rs188097997	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:9868918C>A	ENST00000397902.2	-	6	1248	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	ZNF846_ENST00000588267.1_Nonsense_Mutation_p.E150*|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Nonsense_Mutation_p.E150*	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	279					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.E279*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGGTTTTTCTCCACTGTGA	0.393																																					p.E279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G835T	19						.						68.0	72.0	71.0					19																	9868918		2060	4227	6287	9729918	SO:0001587	stop_gained	162993	exon6			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.835G>T	19.37:g.9868918C>A	ENSP00000380999:p.Glu279*	Somatic		Capture	Illumina HiSeq	Phase_I	9729918	NM_001077624	A8K0H1|B3KUP1	Nonsense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	40	8.237505	0.98719	.	.	ENSG00000196605	ENST00000397902	.	.	.	1.81	0.686	0.18015	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9796	0.30175	0.0:0.7431:0.2569:0.0	.	.	.	.	X	279	.	.	E	-	1	0	ZNF846	9729918	0.007000	0.16637	0.007000	0.13788	0.834000	0.47266	0.443000	0.21644	0.307000	0.22880	0.456000	0.33151	GAA		0.393	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
ZNF826P	664701	broad.mit.edu	37	19	20577319	20577319	+	RNA	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:20577319G>T	ENST00000502675.1	-	0	1933				MIR1270-2_ENST00000408220.1_RNA	NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						TGTCCACTATGAATTCTCTTA	0.279																																					.												.	.	0			.	19						.																																			20369159			664701	.			BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20577319G>T		Somatic		Capture	Illumina HiSeq	Phase_I	20369159	.		Missense_Mutation	SNP	ENST00000502675.1	37																																																																																					0.279	ZNF826P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000370365.1	NM_001039884	
LILRA2	11027	broad.mit.edu	37	19	55086391	55086391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:55086391delG	ENST00000251377.3	+	5	679	c.546delG	c.(544-546)gtgfs	p.V182fs	LILRA2_ENST00000391737.1_Frame_Shift_Del_p.V170fs|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Frame_Shift_Del_p.V182fs|LILRA2_ENST00000251376.3_Frame_Shift_Del_p.V182fs|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	182	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G183fs*3(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTTCTCCGTGGGCCCCGTGA	0.572																																					p.V182fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.546delG	19						.						151.0	144.0	147.0					19																	55086391		2203	4300	6503	59778203	SO:0001589	frameshift_variant	11027	exon4			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.546delG	19.37:g.55086391delG	ENSP00000251377:p.Val182fs	Somatic		Capture	Illumina HiSeq	Phase_I	59778203	NM_001130917	O75020	Frame_Shift_Del	DEL	ENST00000251377.3	37	CCDS46179.1																																																																																				0.572	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		
ZNF584	201514	broad.mit.edu	37	19	58928670	58928670	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr19:58928670G>T	ENST00000306910.4	+	4	1308	c.785G>T	c.(784-786)aGg>aTg	p.R262M	ZNF584_ENST00000593920.1_Missense_Mutation_p.R217M|ZNF584_ENST00000599238.1_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	262					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.R262M(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CTACACCAGAGGATTCACACT	0.463																																					p.R262M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785T	19						.						93.0	81.0	85.0					19																	58928670		2203	4300	6503	63620482	SO:0001583	missense	201514	exon4			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.785G>T	19.37:g.58928670G>T	ENSP00000306756:p.Arg262Met	Somatic		Capture	Illumina HiSeq	Phase_I	63620482	NM_173548	A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770106	0.69992	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.25579	1.79	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48519	0.1504	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53222	-0.8469	9	0.72032	D	0.01	.	13.4823	0.61342	0.0:0.0:1.0:0.0	.	262	Q8IVC4	ZN584_HUMAN	M	262;121	ENSP00000306756:R262M	ENSP00000306756:R262M	R	+	2	0	ZNF584	63620482	0.000000	0.05858	0.801000	0.32222	0.955000	0.61496	0.758000	0.26447	2.119000	0.64992	0.555000	0.69702	AGG		0.463	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548	
AGL	178	broad.mit.edu	37	1	100376324	100376324	+	Missense_Mutation	SNP	C	C	T	rs375531470		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:100376324C>T	ENST00000294724.4	+	28	4235	c.3757C>T	c.(3757-3759)Cgt>Tgt	p.R1253C	AGL_ENST00000370161.2_Missense_Mutation_p.R1237C|AGL_ENST00000361915.3_Missense_Mutation_p.R1253C|AGL_ENST00000361302.3_Missense_Mutation_p.R1237C|AGL_ENST00000370163.3_Missense_Mutation_p.R1253C|AGL_ENST00000361522.4_Missense_Mutation_p.R1236C|AGL_ENST00000370165.3_Missense_Mutation_p.R1253C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1253			R -> H (in dbSNP:rs12043139).		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.R1253C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGGAAATCGTTTCAATTG	0.328																																					p.R1236C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3706T	1						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	97.0	95.0	96.0		3757,3757,3757,3757,3706,3709	3.3	1.0	1		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1253/1533,1253/1533,1253/1533,1253/1533,1236/1516,1237/1517	100376324	1,13005	2203	4300	6503	100148912	SO:0001583	missense	178	exon26			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3757C>T	1.37:g.100376324C>T	ENSP00000294724:p.Arg1253Cys	Somatic		Capture	Illumina HiSeq	Phase_I	100148912	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958781	0.74016	0.0	1.16E-4	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.26	3.34	0.38264	Six-hairpin glycosidase-like (1);	0.197100	0.53938	D	0.000051	T	0.69314	0.3097	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.65443	0.931;0.931;0.935	T	0.71810	-0.4480	10	0.72032	D	0.01	.	5.9497	0.19239	0.1409:0.6502:0.136:0.0728	.	1236;1237;1253	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	1253;1253;1253;1253;1237;1237;1236	ENSP00000355106:R1253C;ENSP00000359184:R1253C;ENSP00000359182:R1253C;ENSP00000294724:R1253C;ENSP00000354971:R1237C;ENSP00000359180:R1237C;ENSP00000354635:R1236C	ENSP00000294724:R1253C	R	+	1	0	AGL	100148912	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	4.444000	0.60001	0.668000	0.31126	0.655000	0.94253	CGT		0.328	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
TRMT13	54482	broad.mit.edu	37	1	100606493	100606493	+	Missense_Mutation	SNP	T	T	C	rs375500247		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:100606493T>C	ENST00000370141.2	+	7	593	c.587T>C	c.(586-588)tTa>tCa	p.L196S		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	196					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.L196S(1)									AAGGGAAAATTATCTCATTGG	0.368																																					p.L196S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T587C	1						.	T	SER/LEU	0,4406		0,0,2203	126.0	123.0	124.0		587	5.6	1.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC76	NM_019083.2	145	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	196/482	100606493	1,13005	2203	4300	6503	100379081	SO:0001583	missense	54482	exon7			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.587T>C	1.37:g.100606493T>C	ENSP00000359160:p.Leu196Ser	Somatic		Capture	Illumina HiSeq	Phase_I	100379081	NM_019083	Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412711	0.83340	0.0	1.16E-4	ENSG00000122435	ENST00000370141	T	0.66815	-0.23	5.62	5.62	0.85841	Methyltransferase TRM13 (1);	0.071259	0.64402	D	0.000019	D	0.83589	0.5287	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88052	0.2788	10	0.87932	D	0	-7.0637	15.8152	0.78595	0.0:0.0:0.0:1.0	.	182;196	B4DQS9;Q9NUP7	.;TRM13_HUMAN	S	196	ENSP00000359160:L196S	ENSP00000359160:L196S	L	+	2	0	CCDC76	100379081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.132000	0.77251	2.131000	0.65755	0.460000	0.39030	TTA		0.368	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083	
LRRC39	127495	broad.mit.edu	37	1	100620623	100620623	+	Nonsense_Mutation	SNP	C	C	A	rs145343717		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:100620623C>A	ENST00000370137.1	-	8	994	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	LRRC39_ENST00000342895.3_Nonsense_Mutation_p.E266*|LRRC39_ENST00000370138.1_Nonsense_Mutation_p.E266*	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	266								p.E266*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTGCCATTTCTTCCATGCAT	0.348																																					p.E266X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G796T	1						.						120.0	117.0	118.0					1																	100620623		2202	4300	6502	100393211	SO:0001587	stop_gained	127495	exon8			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.796G>T	1.37:g.100620623C>A	ENSP00000359156:p.Glu266*	Somatic		Capture	Illumina HiSeq	Phase_I	100393211	NM_144620	B3KUD2|D3DT56|Q5VVK7	Nonsense_Mutation	SNP	ENST00000370137.1	37	CCDS766.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920813	0.73213	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	.	.	.	5.91	1.73	0.24493	.	0.775582	0.11732	N	0.534881	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8409	0.23963	0.0:0.4501:0.3514:0.1985	.	.	.	.	X	266	.	ENSP00000344470:E266X	E	-	1	0	LRRC39	100393211	0.768000	0.28519	0.946000	0.38457	0.272000	0.26649	0.117000	0.15583	0.391000	0.25143	0.655000	0.94253	GAA		0.348	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620	
COL11A1	1301	broad.mit.edu	37	1	103345460	103345460	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:103345460C>A	ENST00000370096.3	-	66	5365	c.5053G>T	c.(5053-5055)Gat>Tat	p.D1685Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.D1569Y|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1697Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1646Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1685	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D1697Y(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTCAACATCTAAGTATGAA	0.383																																					p.D1685Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5053T	1						.						68.0	62.0	64.0					1																	103345460		2203	4300	6503	103118048	SO:0001583	missense	1301	exon66			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5053G>T	1.37:g.103345460C>A	ENSP00000359114:p.Asp1685Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	103118048	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439913	0.83885	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.51	5.51	0.81932	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	M	0.92691	3.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.998	D	0.90836	0.4720	10	0.87932	D	0	.	19.766	0.96342	0.0:1.0:0.0:0.0	.	1569;1646;1697;1685;905	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Y	1685;1697;1646;905;1569	ENSP00000359114:D1685Y;ENSP00000351163:D1697Y;ENSP00000302551:D1646Y;ENSP00000426533:D1569Y	ENSP00000302551:D1646Y	D	-	1	0	COL11A1	103118048	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.772000	0.85439	2.743000	0.94032	0.585000	0.79938	GAT		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103491418	103491418	+	Intron	SNP	T	T	G	rs370948092		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:103491418T>G	ENST00000370096.3	-	7	1210				COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.K291Q|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K291Q(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGAAAATTTTTCAGATTTG	0.338																																					p.K291Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A871C	1						.	T	,,,GLN/LYS	0,4404		0,0,2202	133.0	141.0	138.0		,,,871	4.2	1.0	1		138	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,intron,missense	COL11A1	NM_001190709.1,NM_001854.3,NM_080630.3,NM_080629.2	,,,53	0,1,6500	GG,GT,TT		0.0116,0.0,0.0077	,,,benign	,,,291/1819	103491418	1,13001	2202	4299	6501	103264006	SO:0001627	intron_variant	1301	exon6			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-249A>C	1.37:g.103491418T>G		Somatic		Capture	Illumina HiSeq	Phase_I	103264006	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	8.904	0.957053	0.18507	0.0	1.16E-4	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.72051	-0.56;-0.62	5.35	4.21	0.49690	.	0.695051	0.13379	N	0.392290	T	0.43322	0.1242	L	0.47716	1.5	0.80722	D	1	B	0.33238	0.403	B	0.30716	0.119	T	0.28170	-1.0052	10	0.14656	T	0.56	.	11.205	0.48765	0.0:0.0:0.1537:0.8463	.	291	P12107-2	.	Q	291	ENSP00000351163:K291Q;ENSP00000408640:K291Q	ENSP00000351163:K291Q	K	-	1	0	COL11A1	103264006	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.868000	0.48436	0.854000	0.35336	0.519000	0.50382	AAA		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103540273	103540273	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:103540273C>A	ENST00000370096.3	-	4	864	c.552G>T	c.(550-552)aaG>aaT	p.K184N	COL11A1_ENST00000512756.1_Missense_Mutation_p.K184N|COL11A1_ENST00000358392.2_Missense_Mutation_p.K184N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K184N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	184	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K184N(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCGTGGTTTTCTTCTTACAAT	0.378																																					p.K184N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G552T	1						.						162.0	142.0	149.0					1																	103540273		2203	4300	6503	103312861	SO:0001583	missense	1301	exon4			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.552G>T	1.37:g.103540273C>A	ENSP00000359114:p.Lys184Asn	Somatic		Capture	Illumina HiSeq	Phase_I	103312861	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357990	0.41801	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37	5.58	4.67	0.58626	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.156126	0.56097	D	0.000032	T	0.02494	0.0076	M	0.77616	2.38	0.49687	D	0.999812	B;B;B;B	0.31459	0.157;0.13;0.277;0.324	B;B;B;B	0.37989	0.125;0.101;0.262;0.224	T	0.17167	-1.0378	10	0.59425	D	0.04	.	11.1968	0.48717	0.0:0.8408:0.0:0.1592	.	184;184;184;184	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	184;184;184;184;184;111	ENSP00000359114:K184N;ENSP00000351163:K184N;ENSP00000302551:K184N;ENSP00000426533:K184N;ENSP00000408640:K184N;ENSP00000410177:K111N	ENSP00000302551:K184N	K	-	3	2	COL11A1	103312861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.702000	0.47102	1.357000	0.45904	-0.142000	0.14014	AAG		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
SLC25A24	29957	broad.mit.edu	37	1	108742686	108742686	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:108742686C>A	ENST00000565488.1	-	1	294	c.75G>T	c.(73-75)gaG>gaT	p.E25D	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.E25D	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	25	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.E25D(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GGAAGAGGGTCTCGTAGCGCG	0.706																																					p.E25D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	1						.						14.0	17.0	16.0					1																	108742686		1997	4157	6154	108544209	SO:0001583	missense	29957	exon1			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.75G>T	1.37:g.108742686C>A	ENSP00000457733:p.Glu25Asp	Somatic		Capture	Illumina HiSeq	Phase_I	108544209	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827125	0.16749	.	.	ENSG00000085491	ENST00000264128	T	0.71461	-0.57	4.65	1.37	0.22104	EF-hand-like domain (1);	0.953061	0.08800	N	0.891955	T	0.40498	0.1119	L	0.52759	1.655	0.09310	N	1	B	0.15719	0.014	B	0.23018	0.043	T	0.32025	-0.9922	10	0.20519	T	0.43	-4.5966	6.4989	0.22158	0.0:0.5145:0.3021:0.1834	.	25	Q6NUK1	SCMC1_HUMAN	D	25	ENSP00000264128:E25D	ENSP00000264128:E25D	E	-	3	2	SLC25A24	108544209	0.109000	0.22037	0.981000	0.43875	0.005000	0.04900	0.052000	0.14163	0.512000	0.28257	0.455000	0.32223	GAG		0.706	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386	
PRPF38B	55119	broad.mit.edu	37	1	109242103	109242103	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:109242103C>A	ENST00000370025.4	+	6	1371	c.1102C>A	c.(1102-1104)Cgt>Agt	p.R368S	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R257S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	368	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R368S(1)|p.R368C(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		aagacgagatcgtgactatga	0.448																																					p.R368S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1102A	1						.						39.0	37.0	37.0					1																	109242103		2203	4299	6502	109043626	SO:0001583	missense	55119	exon6			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1102C>A	1.37:g.109242103C>A	ENSP00000359042:p.Arg368Ser	Somatic		Capture	Illumina HiSeq	Phase_I	109043626	NM_018061	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569700	0.28003	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.13538	4.48;2.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	N	0.19112	0.55	0.49213	D	0.999762	D	0.63880	0.993	D	0.74023	0.982	T	0.07986	-1.0744	10	0.39692	T	0.17	.	15.2225	0.73324	0.1493:0.8507:0.0:0.0	.	368	Q5VTL8	PR38B_HUMAN	S	368;257	ENSP00000359042:R368S;ENSP00000359038:R257S	ENSP00000359038:R257S	R	+	1	0	PRPF38B	109043626	0.934000	0.31675	1.000000	0.80357	0.979000	0.70002	1.591000	0.36665	2.610000	0.88304	0.591000	0.81541	CGT		0.448	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061	
GPSM2	29899	broad.mit.edu	37	1	109465146	109465146	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:109465146C>T	ENST00000406462.2	+	14	2321	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	GPSM2_ENST00000264126.3_Silent_p.C516C|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	516					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.C509C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAAAGAACTGCCATACAGCTT	0.378																																					p.C516C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1548T	1						.						162.0	161.0	161.0					1																	109465146		2203	4300	6503	109266669	SO:0001819	synonymous_variant	29899	exon13			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1548C>T	1.37:g.109465146C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109266669	NM_013296	Q5T1N8|Q6IBL7|Q8N0Z5	Silent	SNP	ENST00000406462.2	37	CCDS792.2	.	.	.	.	.	.	.	.	.	.	C	4.809	0.150441	0.09185	.	.	ENSG00000121957	ENST00000441735	.	.	.	6.08	-2.98	0.05513	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35599	-0.9782	4	.	.	.	-25.0317	2.661	0.05027	0.1576:0.2643:0.0977:0.4804	.	.	.	.	V	106	.	.	A	+	2	0	GPSM2	109266669	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.393000	0.07305	-0.514000	0.06488	0.655000	0.94253	GCC		0.378	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296	
C1orf127	148345	broad.mit.edu	37	1	11014195	11014195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:11014195C>T	ENST00000377008.4	-	9	925	c.479G>A	c.(478-480)tGc>tAc	p.C160Y	C1orf127_ENST00000377004.4_Missense_Mutation_p.C327Y			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	160								p.C160Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GACTTCTTGGCATCGCTGTGG	0.582																																					p.C327Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	1						.						99.0	103.0	102.0					1																	11014195		2203	4300	6503	10936782	SO:0001583	missense	148345	exon10			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.479G>A	1.37:g.11014195C>T	ENSP00000366207:p.Cys160Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	10936782	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.477928|2.477928	0.44044|0.44044	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.50277	.|0.75;0.76	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.301159	.|0.24260	.|N	.|0.040083	T|T	0.54935|0.54935	0.1889|0.1889	N|N	0.24115|0.24115	0.695|0.695	0.36166|0.36166	D|D	0.848437|0.848437	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.65721|0.65721	-0.6099|-0.6099	5|10	.|0.87932	.|D	.|0	-4.1464|-4.1464	13.9913|13.9913	0.64369|0.64369	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|178;178;160	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	T|Y	162;305|327;160	.|ENSP00000366203:C327Y;ENSP00000366207:C160Y	.|ENSP00000366203:C327Y	A|C	-|-	1|2	0|0	C1orf127|C1orf127	10936782|10936782	0.998000|0.998000	0.40836|0.40836	0.917000|0.917000	0.36280|0.36280	0.037000|0.037000	0.13140|0.13140	1.828000|1.828000	0.39111|0.39111	2.368000|2.368000	0.80403|0.80403	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.582	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
CLCC1	23155	broad.mit.edu	37	1	109482272	109482272	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:109482272C>A	ENST00000369971.2	-	9	1156	c.1027G>T	c.(1027-1029)Gca>Tca	p.A343S	CLCC1_ENST00000369970.3_Missense_Mutation_p.A293S|CLCC1_ENST00000415331.1_Missense_Mutation_p.A293S|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369968.2_Missense_Mutation_p.A158S|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.A222S|CLCC1_ENST00000356970.2_Missense_Mutation_p.A343S|CLCC1_ENST00000302500.4_Missense_Mutation_p.A222S|CLCC1_ENST00000348264.2_Missense_Mutation_p.A158S|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	343						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.A293S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ATGGCTAATGCCATAATTATC	0.493																																					p.A343S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027T	1						.						75.0	67.0	70.0					1																	109482272		2203	4300	6503	109283795	SO:0001583	missense	23155	exon9			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1027G>T	1.37:g.109482272C>A	ENSP00000358988:p.Ala343Ser	Somatic		Capture	Illumina HiSeq	Phase_I	109283795	NM_001048210	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332977	0.81801	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.23	5.23	0.72850	.	0.167779	0.52532	D	0.000072	T	0.66366	0.2782	M	0.65975	2.015	0.33478	D	0.587012	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;P;D;D	0.91635	0.999;0.89;0.999;0.999	T	0.70673	-0.4807	10	0.72032	D	0.01	-17.8287	18.8082	0.92047	0.0:1.0:0.0:0.0	.	158;222;293;343	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	S	343;343;293;222;158;293;158;222	ENSP00000349456:A343S;ENSP00000358988:A343S;ENSP00000411591:A293S;ENSP00000358986:A222S;ENSP00000358985:A158S;ENSP00000358987:A293S;ENSP00000337243:A158S;ENSP00000306552:A222S	ENSP00000306552:A222S	A	-	1	0	CLCC1	109283795	1.000000	0.71417	0.613000	0.29037	0.941000	0.58515	3.638000	0.54332	2.429000	0.82318	0.591000	0.81541	GCA		0.493	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127	
MASP2	10747	broad.mit.edu	37	1	11087075	11087075	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:11087075T>A	ENST00000400897.3	-	11	1943	c.1928A>T	c.(1927-1929)gAa>gTa	p.E643V	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	643	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.E643V(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCTCTCTGTTTCACTATCTAG	0.478																																					p.E643V	GBM(35;611 746 20780 22741 36496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1928T	1						.						193.0	188.0	190.0					1																	11087075		2203	4300	6503	11009662	SO:0001583	missense	10747	exon11			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1928A>T	1.37:g.11087075T>A	ENSP00000383690:p.Glu643Val	Somatic		Capture	Illumina HiSeq	Phase_I	11009662	NM_006610	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490629	0.44249	.	.	ENSG00000009724	ENST00000400897	D	0.92752	-3.1	5.11	5.11	0.69529	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.367300	0.27362	N	0.019715	D	0.84781	0.5548	N	0.12182	0.205	0.80722	D	1	B	0.17038	0.02	B	0.18871	0.023	T	0.80883	-0.1183	10	0.44086	T	0.13	.	14.5747	0.68238	0.0:0.0:0.0:1.0	.	643	O00187	MASP2_HUMAN	V	643	ENSP00000383690:E643V	ENSP00000383690:E643V	E	-	2	0	MASP2	11009662	0.000000	0.05858	0.038000	0.18304	0.225000	0.24961	0.417000	0.21214	1.920000	0.55613	0.460000	0.39030	GAA		0.478	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
CYB561D1	284613	broad.mit.edu	37	1	110037801	110037801	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:110037801C>T	ENST00000420578.2	+	2	225	c.185C>T	c.(184-186)gCg>gTg	p.A62V	CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000430195.2_Splice_Site_p.R97W|CYB561D1_ENST00000528785.1_Splice_Site_p.A62V|CYB561D1_ENST00000533024.1_Splice_Site_p.R18C|CYB561D1_ENST00000496961.1_Splice_Site_p.A62V|CYB561D1_ENST00000310611.4_Splice_Site_p.R97C			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	62	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.A62V(1)		breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATGGCCTTGGCGGTGAGTTTA	0.498																																					p.A62V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C185T	1						.						329.0	302.0	311.0					1																	110037801		2203	4300	6503	109839324	SO:0001630	splice_region_variant	284613	exon2			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.186+1C>T	1.37:g.110037801C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109839324	NM_182580	B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	ENST00000420578.2	37	CCDS800.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.89|10.89|10.89	1.479615|1.479615|1.479615	0.26511|0.26511|0.26511	.|.|.	.|.|.	ENSG00000174151|ENSG00000174151|ENSG00000174151	ENST00000496961;ENST00000420578;ENST00000528785|ENST00000533024;ENST00000310611|ENST00000430195	T;T|.|.	0.47177|.|.	0.85;0.85|.|.	5.65|5.65|5.65	3.8|3.8|3.8	0.43715|0.43715|0.43715	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);|.|.	0.194119|.|.	0.43579|.|.	D|.|.	0.000559|.|.	T|T|T	0.41119|0.41119|0.41119	0.1145|0.1145|0.1145	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.27611|0.27611|0.27611	N|N|N	0.948655|0.948655|0.948655	B|D|D	0.14012|0.59767|0.67145	0.009|0.986|0.996	B|P|P	0.12837|0.50270|0.59357	0.008|0.636|0.856	T|T|T	0.31052|0.31052|0.31052	-0.9957|-0.9957|-0.9957	10|8|8	0.72032|0.87932|0.87932	D|D|D	0.01|0|0	.|.|.	8.5566|8.5566|8.5566	0.33485|0.33485|0.33485	0.152:0.7702:0.0:0.0779|0.152:0.7702:0.0:0.0779|0.152:0.7702:0.0:0.0779	.|.|.	62|97|97	Q8N8Q1|Q8N8Q1-2|Q5T6C3	C56D1_HUMAN|.|.	V|C|W	62|18;97|97	ENSP00000413530:A62V;ENSP00000434344:A62V|.|.	ENSP00000413530:A62V|ENSP00000309324:R97C|ENSP00000416898:R97W	A|R|R	+|+|+	2|1|1	0|0|2	CYB561D1|CYB561D1|CYB561D1	109839324|109839324|109839324	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.002000|0.002000|0.002000	0.02628|0.02628|0.02628	2.345000|2.345000|2.345000	0.44018|0.44018|0.44018	0.753000|0.753000|0.753000	0.32945|0.32945|0.32945	-0.127000|-0.127000|-0.127000	0.14921|0.14921|0.14921	GCG|CGT|CGG		0.498	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580	Missense_Mutation
EXOSC10	5394	broad.mit.edu	37	1	11147553	11147553	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:11147553A>G	ENST00000376936.4	-	9	1090	c.1041T>C	c.(1039-1041)agT>agC	p.S347S	EXOSC10_ENST00000544779.1_Silent_p.S347S|EXOSC10_ENST00000304457.7_Silent_p.S347S	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	347					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S347S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGTACATGTCACTTCGAAGCT	0.468																																					p.S347S	Colon(179;105 1987 14326 27364 29542)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1041C	1						.						192.0	194.0	193.0					1																	11147553		2203	4300	6503	11070140	SO:0001819	synonymous_variant	5394	exon9			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1041T>C	1.37:g.11147553A>G		Somatic		Capture	Illumina HiSeq	Phase_I	11070140	NM_001001998	B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	CCDS30584.1																																																																																				0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	
EPS8L3	79574	broad.mit.edu	37	1	110295775	110295775	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:110295775G>T	ENST00000361965.4	-	13	1270	c.1164C>A	c.(1162-1164)ttC>ttA	p.F388L	EPS8L3_ENST00000361852.4_Missense_Mutation_p.F388L|EPS8L3_ENST00000369805.3_Missense_Mutation_p.F389L|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	388						cytoplasm (GO:0005737)		p.F389L(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGTCATCTGAGAATGTGGGTT	0.577																																					p.F389L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1167A	1						.						101.0	97.0	98.0					1																	110295775		2203	4300	6503	110097298	SO:0001583	missense	79574	exon13			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1164C>A	1.37:g.110295775G>T	ENSP00000355255:p.Phe388Leu	Somatic		Capture	Illumina HiSeq	Phase_I	110097298	NM_139053	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	3.366	-0.129543	0.06753	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;D	0.81659	1.55;-1.49;-1.52	4.45	1.52	0.23074	.	0.050329	0.85682	D	0.000000	T	0.73401	0.3582	M	0.87682	2.9	0.54753	D	0.999989	P;P;P;B	0.45986	0.544;0.87;0.855;0.041	B;B;B;B	0.42282	0.259;0.377;0.382;0.016	T	0.74396	-0.3679	10	0.72032	D	0.01	-13.8451	8.5408	0.33390	0.2859:0.0:0.7141:0.0	.	388;388;388;389	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	L	388;389;388	ENSP00000354551:F388L;ENSP00000358820:F389L;ENSP00000355255:F388L	ENSP00000354551:F388L	F	-	3	2	EPS8L3	110097298	1.000000	0.71417	0.804000	0.32291	0.008000	0.06430	1.842000	0.39250	0.250000	0.21479	-1.786000	0.00637	TTC		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
KCNA10	3744	broad.mit.edu	37	1	111060702	111060702	+	Missense_Mutation	SNP	C	C	A	rs375963491		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111060702C>A	ENST00000369771.2	-	1	1095	c.708G>T	c.(706-708)gaG>gaT	p.E236D		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	236					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.E236D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTGGCAGTGTCTCCAGGCAGA	0.567																																					p.E236D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G708T	1						.						123.0	107.0	113.0					1																	111060702		2203	4300	6503	110862225	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.708G>T	1.37:g.111060702C>A	ENSP00000358786:p.Glu236Asp	Somatic		Capture	Illumina HiSeq	Phase_I	110862225	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147754	0.37923	.	.	ENSG00000143105	ENST00000369771	T	0.68624	-0.34	6.07	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.86268	2.805	0.43527	D	0.995801	P	0.46277	0.875	B	0.37198	0.243	T	0.65282	-0.6206	10	0.72032	D	0.01	.	9.0579	0.36416	0.0:0.7645:0.0:0.2355	.	236	Q16322	KCA10_HUMAN	D	236	ENSP00000358786:E236D	ENSP00000358786:E236D	E	-	3	2	KCNA10	110862225	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.676000	0.25247	1.511000	0.48818	0.655000	0.94253	GAG		0.567	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
KCNA2	3737	broad.mit.edu	37	1	111147335	111147335	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111147335C>A	ENST00000485317.1	-	3	743	c.70G>T	c.(70-72)Gac>Tac	p.D24Y	KCNA2_ENST00000440270.1_Missense_Mutation_p.D24Y|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Missense_Mutation_p.D24Y|KCNA2_ENST00000316361.4_Missense_Mutation_p.D24Y			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	24					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.D24Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	GCCTCTGGGTCATAGGTGTCC	0.582																																					p.D24Y	Pancreas(18;568 735 10587 23710 36357)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70T	1						.						115.0	118.0	117.0					1																	111147335		2203	4300	6503	110948858	SO:0001583	missense	3737	exon2			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.70G>T	1.37:g.111147335C>A	ENSP00000433109:p.Asp24Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	110948858	NM_004974	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259205	0.39995	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96554	-1.37;-4.05;-4.05;-4.05	5.75	5.75	0.90469	.	0.049154	0.85682	D	0.000000	D	0.83732	0.5318	N	0.02539	-0.55	0.58432	D	0.999995	B;B	0.20164	0.042;0.0	B;B	0.23018	0.043;0.001	T	0.81406	-0.0947	10	0.51188	T	0.08	.	10.9562	0.47358	0.0:0.8878:0.0:0.1122	.	24;24	Q86XG6;P16389	.;KCNA2_HUMAN	Y	24	ENSP00000358785:D24Y;ENSP00000433109:D24Y;ENSP00000415257:D24Y;ENSP00000314520:D24Y	ENSP00000314520:D24Y	D	-	1	0	KCNA2	110948858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.951000	0.70273	2.716000	0.92895	0.655000	0.94253	GAC		0.582	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974	
MTOR	2475	broad.mit.edu	37	1	11194521	11194521	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000495435.1_5'UTR|MTOR_ENST00000376838.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1711	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I1711I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGAAGGCATCGATCTGTAACA	0.542																																					p.I1711I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5133T	1						.						152.0	111.0	125.0					1																	11194521		2203	4300	6503	11117108	SO:0001819	synonymous_variant	2475	exon37			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5133C>T	1.37:g.11194521G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11117108	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
KCNA3	3738	broad.mit.edu	37	1	111216224	111216224	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111216224A>G	ENST00000369769.2	-	1	1431	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	403					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.F403S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AAAGAGGAAGAAGATGAGCAA	0.582																																					p.F403S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1208C	1						.						59.0	60.0	60.0					1																	111216224		2203	4300	6503	111017747	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1208T>C	1.37:g.111216224A>G	ENSP00000358784:p.Phe403Ser	Somatic		Capture	Illumina HiSeq	Phase_I	111017747	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906308	0.72868	.	.	ENSG00000177272	ENST00000369769	D	0.98649	-5.05	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99127	0.9699	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99764	1.1022	10	0.87932	D	0	.	15.9764	0.80066	1.0:0.0:0.0:0.0	.	403	P22001	KCNA3_HUMAN	S	403	ENSP00000358784:F403S	ENSP00000358784:F403S	F	-	2	0	KCNA3	111017747	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	9.335000	0.96500	2.171000	0.68590	0.533000	0.62120	TTC		0.582	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
CD53	963	broad.mit.edu	37	1	111435023	111435023	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111435023C>T	ENST00000271324.5	+	3	232	c.120C>T	c.(118-120)ttC>ttT	p.F40F	CD53_ENST00000429072.2_Silent_p.F40F	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	40					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ACAACAACTTCGGAGTGCTCT	0.507																																					p.F40F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	1						.						202.0	170.0	181.0					1																	111435023		2203	4300	6503	111236546	SO:0001819	synonymous_variant	963	exon3			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.120C>T	1.37:g.111435023C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111236546	NM_000560	B2R905|Q5U0D6	Silent	SNP	ENST00000271324.5	37	CCDS829.1																																																																																				0.507	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560	
DENND2D	79961	broad.mit.edu	37	1	111738624	111738624	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111738624A>G	ENST00000357640.4	-	6	788	c.559T>C	c.(559-561)Ttc>Ctc	p.F187L	DENND2D_ENST00000369752.5_Missense_Mutation_p.F184L|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	187	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F187L(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CCCTGCATGAACGGGTAGATG	0.557																																					p.F187L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T559C	1						.						93.0	85.0	88.0					1																	111738624		2203	4300	6503	111540147	SO:0001583	missense	79961	exon6				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.559T>C	1.37:g.111738624A>G	ENSP00000350266:p.Phe187Leu	Somatic		Capture	Illumina HiSeq	Phase_I	111540147	NM_024901	Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	CCDS831.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930074	0.92389	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.12255	2.7;2.7	5.29	5.29	0.74685	DENN (3);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	L	0.28192	0.835	0.48901	D	0.999727	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.19451	-1.0305	10	0.11794	T	0.64	-20.7586	13.1643	0.59562	1.0:0.0:0.0:0.0	.	184;187	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	L	187;184	ENSP00000350266:F187L;ENSP00000358767:F184L	ENSP00000350266:F187L	F	-	1	0	DENND2D	111540147	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.339000	0.96797	1.999000	0.58509	0.454000	0.30748	TTC		0.557	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	
CHIA	27159	broad.mit.edu	37	1	111863047	111863047	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111863047C>T	ENST00000369740.1	+	12	1493	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	CHIA_ENST00000353665.6_Missense_Mutation_p.L303F|CHIA_ENST00000451398.2_Missense_Mutation_p.L303F|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.L464F|CHIA_ENST00000430615.1_Missense_Mutation_p.L356F|CHIA_ENST00000483391.1_Missense_Mutation_p.L303F	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	464	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.L356F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCAGGCCGGGCTTGTCTTCGA	0.532																																					p.L464F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1390T	1						.						63.0	62.0	63.0					1																	111863047		2203	4300	6503	111664570	SO:0001583	missense	27159	exon12			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1390C>T	1.37:g.111863047C>T	ENSP00000358755:p.Leu464Phe	Somatic		Capture	Illumina HiSeq	Phase_I	111664570	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554327	0.65425	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000430615	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	4.77	4.77	0.60923	Chitin binding domain (5);	0.000000	0.48767	U	0.000175	T	0.68485	0.3006	H	0.96833	3.89	0.43292	D	0.995274	D	0.89917	1.0	D	0.87578	0.998	T	0.79279	-0.1869	10	0.72032	D	0.01	-4.1306	15.6611	0.77188	0.0:1.0:0.0:0.0	.	464	Q9BZP6	CHIA_HUMAN	F	408;303;464;464;303;303;356	ENSP00000387671:L408F;ENSP00000436946:L303F;ENSP00000358755:L464F;ENSP00000341828:L464F;ENSP00000390476:L303F;ENSP00000338970:L303F;ENSP00000391132:L356F	ENSP00000341828:L464F	L	+	1	0	CHIA	111664570	0.006000	0.16342	0.414000	0.26521	0.662000	0.39071	1.385000	0.34408	2.628000	0.89032	0.655000	0.94253	CTT		0.532	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		
OVGP1	5016	broad.mit.edu	37	1	111968028	111968028	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:111968028G>A	ENST00000369732.3	-	4	349	c.294C>T	c.(292-294)ggC>ggT	p.G98G	OVGP1_ENST00000540696.1_Silent_p.G38G|OVGP1_ENST00000481495.1_5'Flank	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	98					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.G162G(1)|p.G98G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGTTCCACCCGCCGATGGACA	0.547																																					p.G98G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C294T	1						.						130.0	103.0	112.0					1																	111968028		2203	4300	6503	111769551	SO:0001819	synonymous_variant	5016	exon4			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.294C>T	1.37:g.111968028G>A		Somatic		Capture	Illumina HiSeq	Phase_I	111769551	NM_002557	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																				0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
DDX20	11218	broad.mit.edu	37	1	112308867	112308867	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:112308867G>T	ENST00000369702.4	+	11	2441	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	DDX20_ENST00000475700.1_Missense_Mutation_p.E215D	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	607					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.E607D(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGGTTAGAGAAACCTGTGG	0.398																																					p.E607D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1821T	1						.						68.0	70.0	69.0					1																	112308867		2203	4300	6503	112110390	SO:0001583	missense	11218	exon11			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1821G>T	1.37:g.112308867G>T	ENSP00000358716:p.Glu607Asp	Somatic		Capture	Illumina HiSeq	Phase_I	112110390	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823071	0.71143	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.39229	1.09;1.32	5.72	5.72	0.89469	.	1.189960	0.05643	N	0.583777	T	0.43478	0.1249	M	0.67953	2.075	0.80722	D	1	D;P	0.55385	0.971;0.682	P;B	0.50934	0.654;0.079	T	0.35176	-0.9799	9	.	.	.	-15.8934	10.3517	0.43939	0.1468:0.0:0.8532:0.0	.	215;607	E9PJ60;Q9UHI6	.;DDX20_HUMAN	D	607;215	ENSP00000358716:E607D;ENSP00000435660:E215D	.	E	+	3	2	DDX20	112110390	1.000000	0.71417	0.999000	0.59377	0.736000	0.42039	3.259000	0.51515	2.865000	0.98341	0.655000	0.94253	GAG		0.398	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
UBIAD1	29914	broad.mit.edu	37	1	11333877	11333877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:11333877G>A	ENST00000376810.5	+	1	615	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	UBIAD1_ENST00000376804.2_Missense_Mutation_p.A97T	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	97			A -> T (in SCCD). {ECO:0000269|PubMed:20505825}.		menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.A97T(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGTGCACGGGGCCGGTAATTT	0.572																																					p.A97T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G289A	1						.						118.0	115.0	116.0					1																	11333877		2203	4300	6503	11256464	SO:0001583	missense	29914	exon1				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.289G>A	1.37:g.11333877G>A	ENSP00000366006:p.Ala97Thr	Somatic		Capture	Illumina HiSeq	Phase_I	11256464	NM_013319	B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	CCDS129.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489512	0.96323	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.94138	-3.36;-3.36	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.84585	2.705	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	D	0.97328	0.9948	10	0.72032	D	0.01	1.759	17.7165	0.88338	0.0:0.0:1.0:0.0	.	97	Q9Y5Z9	UBIA1_HUMAN	T	97	ENSP00000366006:A97T;ENSP00000366000:A97T	ENSP00000366000:A97T	A	+	1	0	UBIAD1	11256464	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.141000	0.94612	2.484000	0.83849	0.453000	0.30009	GCC		0.572	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319	
KCND3	3752	broad.mit.edu	37	1	112323325	112323325	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:112323325G>A	ENST00000315987.2	-	4	1837	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	KCND3_ENST00000302127.4_Missense_Mutation_p.A453V|KCND3_ENST00000369697.1_Missense_Mutation_p.A453V	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	453					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A453V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGCTCCAGCGCCTCGTTGAG	0.582																																					p.A453V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1358T	1						.						55.0	42.0	46.0					1																	112323325		2203	4300	6503	112124848	SO:0001583	missense	3752	exon4			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1358C>T	1.37:g.112323325G>A	ENSP00000319591:p.Ala453Val	Somatic		Capture	Illumina HiSeq	Phase_I	112124848	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936363	0.52972	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.83673	-1.75;-1.75;-1.75	5.26	5.26	0.73747	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.388917	0.28236	N	0.016083	T	0.71160	0.3307	L	0.50333	1.59	0.52099	D	0.99994	B;B	0.24823	0.112;0.112	B;B	0.18561	0.022;0.022	T	0.68625	-0.5359	10	0.27785	T	0.31	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	453;453	Q14D71;Q9UK17	.;KCND3_HUMAN	V	453	ENSP00000358711:A453V;ENSP00000319591:A453V;ENSP00000306923:A453V	ENSP00000306923:A453V	A	-	2	0	KCND3	112124848	0.996000	0.38824	0.926000	0.36857	0.841000	0.47740	3.607000	0.54102	2.446000	0.82766	0.655000	0.94253	GCG		0.582	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
MAGI3	260425	broad.mit.edu	37	1	114196572	114196572	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:114196572T>C	ENST00000307546.9	+	15	2636	c.2561T>C	c.(2560-2562)tTg>tCg	p.L854S	MAGI3_ENST00000369611.4_Missense_Mutation_p.L854S|MAGI3_ENST00000369617.4_Missense_Mutation_p.L879S|MAGI3_ENST00000369615.1_Missense_Mutation_p.L854S	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	879					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.L854S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGTTGTCTTGCAACGAAAA	0.507																																					p.L854S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2561C	1						.						217.0	226.0	223.0					1																	114196572		2203	4300	6503	113998095	SO:0001583	missense	260425	exon15			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2561T>C	1.37:g.114196572T>C	ENSP00000304604:p.Leu854Ser	Somatic		Capture	Illumina HiSeq	Phase_I	113998095	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789438	0.90367	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.75007	-0.3469	10	0.62326	D	0.03	-11.3971	16.215	0.82206	0.0:0.0:0.0:1.0	.	854;854;879	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	S	879;854;854;854	ENSP00000358630:L879S;ENSP00000304604:L854S;ENSP00000358628:L854S;ENSP00000358624:L854S	ENSP00000304604:L854S	L	+	2	0	MAGI3	113998095	0.983000	0.35010	0.954000	0.39281	0.955000	0.61496	7.655000	0.83696	2.288000	0.76882	0.533000	0.62120	TTG		0.507	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
RSBN1	54665	broad.mit.edu	37	1	114308700	114308700	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:114308700C>T	ENST00000261441.5	-	7	2374	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	771						nucleus (GO:0005634)		p.D771N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTTCTGATCTTGCTGTAGA	0.408																																					p.D771N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2311A	1						.						140.0	134.0	136.0					1																	114308700		2203	4300	6503	114110223	SO:0001583	missense	54665	exon7			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2311G>A	1.37:g.114308700C>T	ENSP00000261441:p.Asp771Asn	Somatic		Capture	Illumina HiSeq	Phase_I	114110223	NM_018364	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713455	0.68730	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.85	4.94	0.65067	.	0.212123	0.42172	D	0.000750	T	0.35682	0.0940	L	0.44542	1.39	0.33705	D	0.615068	B	0.26809	0.16	B	0.21917	0.037	T	0.41052	-0.9530	9	0.59425	D	0.04	-0.8143	15.4706	0.75437	0.0:0.8623:0.1377:0.0	.	771	Q5VWQ0	RSBN1_HUMAN	N	771	.	ENSP00000261441:D771N	D	-	1	0	RSBN1	114110223	1.000000	0.71417	0.935000	0.37517	0.985000	0.73830	2.581000	0.46077	1.467000	0.48044	0.557000	0.71058	GAT		0.408	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364	
PTPN22	26191	broad.mit.edu	37	1	114380573	114380573	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:114380573C>A	ENST00000359785.5	-	13	1584	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	PTPN22_ENST00000538253.1_Missense_Mutation_p.E239D|PTPN22_ENST00000420377.2_Missense_Mutation_p.E483D|PTPN22_ENST00000525799.1_Missense_Mutation_p.E356D|PTPN22_ENST00000528414.1_Missense_Mutation_p.E428D|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	483					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.E483D(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGCCTGCATCTCTACAAAAC	0.378																																					p.E428D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1284T	1						.						114.0	109.0	111.0					1																	114380573		2203	4300	6503	114182096	SO:0001583	missense	26191	exon11			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1449G>T	1.37:g.114380573C>A	ENSP00000352833:p.Glu483Asp	Somatic		Capture	Illumina HiSeq	Phase_I	114182096	NM_012411	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	0.353	-0.943616	0.02322	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	3.99	1.85	0.25348	.	1.220790	0.05926	N	0.634316	T	0.24699	0.0599	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B	0.19200	0.002;0.02;0.001;0.034;0.002;0.003	B;B;B;B;B;B	0.12156	0.005;0.007;0.002;0.007;0.003;0.002	T	0.16188	-1.0411	10	0.14656	T	0.56	.	6.5342	0.22344	0.0:0.6767:0.2021:0.1212	.	239;356;483;428;483;483	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	D	483;428;239;483;356;483	ENSP00000352833:E483D;ENSP00000435176:E428D;ENSP00000439372:E239D;ENSP00000388229:E483D;ENSP00000432674:E356D	ENSP00000346621:E483D	E	-	3	2	PTPN22	114182096	0.003000	0.15002	0.062000	0.19696	0.021000	0.10359	0.696000	0.25541	0.641000	0.30601	-0.150000	0.13652	GAG		0.378	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
AP4B1	10717	broad.mit.edu	37	1	114442693	114442693	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:114442693T>G	ENST00000369569.1	-	5	1227	c.947A>C	c.(946-948)aAa>aCa	p.K316T	AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.K148T|AP4B1_ENST00000369566.3_Missense_Mutation_p.K223T|AP4B1_ENST00000256658.4_Missense_Mutation_p.K316T|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	316					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.K316T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAACTTTTTGTAGTGGCT	0.473																																					p.K316T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A947C	1						.						130.0	139.0	136.0					1																	114442693		2203	4300	6503	114244216	SO:0001583	missense	10717	exon6			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.947A>C	1.37:g.114442693T>G	ENSP00000358582:p.Lys316Thr	Somatic		Capture	Illumina HiSeq	Phase_I	114244216	NM_006594	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939716	0.73557	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	5.03	3.9	0.45041	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.043099	0.85682	D	0.000000	T	0.30417	0.0764	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.978;0.996;0.989;0.995	T	0.23976	-1.0173	10	0.87932	D	0	.	10.6159	0.45449	0.0:0.0758:0.0:0.9242	.	223;148;316;217	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	T	148;316;316;223;241;148	ENSP00000358580:K148T;ENSP00000358582:K316T;ENSP00000256658:K316T;ENSP00000358579:K223T;ENSP00000358577:K241T;ENSP00000393622:K148T	ENSP00000256658:K316T	K	-	2	0	AP4B1	114244216	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.982000	0.70532	0.873000	0.35799	0.379000	0.24179	AAA		0.473	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594	
PTCHD2	57540	broad.mit.edu	37	1	11591721	11591721	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:11591721G>A	ENST00000294484.6	+	17	3467	c.3329G>A	c.(3328-3330)gGc>gAc	p.G1110D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1110D|PTCHD2_ENST00000304391.6_5'Flank	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1110					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.G1327D(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGGGCAGTGGGCGTCAGGGAG	0.667																																					p.G1110D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3329A	1						.						33.0	38.0	36.0					1																	11591721		2052	4184	6236	11514308	SO:0001583	missense	57540	exon17			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3329G>A	1.37:g.11591721G>A	ENSP00000294484:p.Gly1110Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11514308	NM_020780	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241062	0.58995	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90955	-2.73;-2.76	4.83	3.89	0.44902	.	0.137746	0.47852	D	0.000215	D	0.91566	0.7336	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.91321	0.5082	10	0.52906	T	0.07	-23.0923	13.1741	0.59615	0.0:0.0:0.8392:0.1608	.	1110	Q9P2K9	PTHD2_HUMAN	D	1110	ENSP00000294484:G1110D;ENSP00000374226:G1110D	ENSP00000294484:G1110D	G	+	2	0	PTCHD2	11514308	1.000000	0.71417	0.963000	0.40424	0.155000	0.21991	9.631000	0.98424	0.961000	0.38030	0.561000	0.74099	GGC		0.667	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
DCLRE1B	64858	broad.mit.edu	37	1	114454146	114454146	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:114454146G>A	ENST00000369563.3	+	4	1378	c.932G>A	c.(931-933)aGc>aAc	p.S311N	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	311					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)	p.S311N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACAGTCTGAGCCCCAGGATC	0.547								Other identified genes with known or suspected DNA repair function																													p.S311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932A	1						.						60.0	61.0	61.0					1																	114454146		2203	4300	6503	114255669	SO:0001583	missense	64858	exon4			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.932G>A	1.37:g.114454146G>A	ENSP00000358576:p.Ser311Asn	Somatic		Capture	Illumina HiSeq	Phase_I	114255669	NM_022836	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605828	0.66445	.	.	ENSG00000118655	ENST00000369563	T	0.75938	-0.98	6.17	5.26	0.73747	.	0.330516	0.38663	N	0.001615	T	0.57359	0.2048	M	0.61703	1.905	0.41738	D	0.989597	B	0.25719	0.132	B	0.23852	0.049	T	0.58679	-0.7594	10	0.19147	T	0.46	-19.9985	14.8782	0.70510	0.0683:0.0:0.9317:0.0	.	311	Q9H816	DCR1B_HUMAN	N	311	ENSP00000358576:S311N	ENSP00000358576:S311N	S	+	2	0	DCLRE1B	114255669	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.488000	0.35551	1.626000	0.50381	0.655000	0.94253	AGC		0.547	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	
SYCP1	6847	broad.mit.edu	37	1	115418731	115418731	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:115418731G>A	ENST00000369522.3	+	10	939	c.699G>A	c.(697-699)gaG>gaA	p.E233E	SYCP1_ENST00000369518.1_Silent_p.E233E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	233					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.E233E(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAAGCTGAGAATTCCAGAC	0.269																																					p.E233E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G699A	1						.						59.0	62.0	61.0					1																	115418731		2203	4293	6496	115220254	SO:0001819	synonymous_variant	6847	exon10			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.699G>A	1.37:g.115418731G>A		Somatic		Capture	Illumina HiSeq	Phase_I	115220254	NM_003176	O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	CCDS879.1																																																																																				0.269	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
TSHB	7252	broad.mit.edu	37	1	115576115	115576115	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:115576115C>T	ENST00000369517.1	+	1	132	c.132C>T	c.(130-132)acC>acT	p.T44T	TSHB_ENST00000256592.1_Silent_p.T44T			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	44					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T44T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCATCAACACCACCATCTGTG	0.408																																					p.T44T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	1						.						235.0	203.0	214.0					1																	115576115		2203	4300	6503	115377638	SO:0001819	synonymous_variant	7252	exon2			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.132C>T	1.37:g.115576115C>T		Somatic		Capture	Illumina HiSeq	Phase_I	115377638	NM_000549	B1AKP0|Q16163	Silent	SNP	ENST00000369517.1	37	CCDS880.1																																																																																				0.408	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549	
TSPAN2	10100	broad.mit.edu	37	1	115615561	115615561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:115615561G>T	ENST00000369516.2	-	2	168	c.137C>A	c.(136-138)tCa>tAa	p.S46*	TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.S46*|TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.S46*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	46					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)		p.S46*(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTCCTCTGATGATAACTCCTT	0.502																																					p.S46X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C137A	1						.						127.0	115.0	119.0					1																	115615561		2203	4300	6503	115417084	SO:0001587	stop_gained	10100	exon2			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.137C>A	1.37:g.115615561G>T	ENSP00000358529:p.Ser46*	Somatic		Capture	Illumina HiSeq	Phase_I	115417084	NM_005725	D6PTH4|Q5TET2|Q8WU05	Nonsense_Mutation	SNP	ENST00000369516.2	37	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807694	0.90623	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	.	.	.	5.56	5.56	0.83823	.	0.962703	0.08676	N	0.910199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	16.4413	0.83901	0.0:0.0:1.0:0.0	.	.	.	.	X	46;46;40;46	.	ENSP00000358527:S46X	S	-	2	0	TSPAN2	115417084	0.996000	0.38824	0.961000	0.40146	0.899000	0.52679	5.598000	0.67585	2.608000	0.88229	0.655000	0.94253	TCA		0.502	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725	
CD101	9398	broad.mit.edu	37	1	117560783	117560783	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:117560783A>C	ENST00000256652.4	+	6	1676	c.1618A>C	c.(1618-1620)Agt>Cgt	p.S540R	CD101_ENST00000369470.1_Missense_Mutation_p.S540R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	540					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S540R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTAGAGTCAAGTTTACAAGT	0.408																																					p.S540R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1618C	1						.						66.0	57.0	60.0					1																	117560783		2203	4300	6503	117362306	SO:0001583	missense	9398	exon6			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1618A>C	1.37:g.117560783A>C	ENSP00000256652:p.Ser540Arg	Somatic		Capture	Illumina HiSeq	Phase_I	117362306	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412494	0.42817	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03524	3.9;3.9	5.17	4.03	0.46877	.	0.376195	0.26140	N	0.026120	T	0.04137	0.0115	M	0.65975	2.015	0.31633	N	0.64882	D	0.67145	0.996	P	0.59171	0.853	T	0.31998	-0.9923	10	0.20046	T	0.44	-21.0162	6.1924	0.20532	0.8865:0.0:0.1135:0.0	.	540	Q93033	IGSF2_HUMAN	R	540	ENSP00000256652:S540R;ENSP00000358482:S540R	ENSP00000256652:S540R	S	+	1	0	CD101	117362306	0.561000	0.26578	0.920000	0.36463	0.105000	0.19272	1.270000	0.33086	2.174000	0.68829	0.533000	0.62120	AGT		0.408	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
SPAG17	200162	broad.mit.edu	37	1	118530750	118530750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:118530750C>T	ENST00000336338.5	-	39	5664	c.5599G>A	c.(5599-5601)Gat>Aat	p.D1867N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1867						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1867N(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCAAAGAAATCTTTACCAAAT	0.363																																					p.D1867N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5599A	1						.						70.0	65.0	67.0					1																	118530750		2203	4300	6503	118332273	SO:0001583	missense	200162	exon39				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5599G>A	1.37:g.118530750C>T	ENSP00000337804:p.Asp1867Asn	Somatic		Capture	Illumina HiSeq	Phase_I	118332273	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357396	0.11239	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17854	2.25	4.05	2.16	0.27623	.	0.813504	0.11503	N	0.557485	T	0.04634	0.0126	L	0.54323	1.7	0.09310	N	1	B	0.20261	0.043	B	0.17098	0.017	T	0.41928	-0.9481	10	0.17832	T	0.49	.	4.8034	0.13308	0.2128:0.6778:0.0:0.1094	.	1867	Q6Q759	SPG17_HUMAN	N	1867;347	ENSP00000337804:D1867N	ENSP00000337804:D1867N	D	-	1	0	SPAG17	118332273	0.000000	0.05858	0.205000	0.23548	0.018000	0.09664	-0.036000	0.12185	0.648000	0.30732	0.655000	0.94253	GAT		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118539118	118539118	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:118539118A>G	ENST00000336338.5	-	34	4993	c.4928T>C	c.(4927-4929)tTt>tCt	p.F1643S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1643						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.F1643S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATACATAACAAAAAACCTATT	0.279																																					p.F1643S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4928C	1						.						55.0	59.0	58.0					1																	118539118		2202	4299	6501	118340641	SO:0001583	missense	200162	exon34				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4928T>C	1.37:g.118539118A>G	ENSP00000337804:p.Phe1643Ser	Somatic		Capture	Illumina HiSeq	Phase_I	118340641	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952152	0.73787	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.48522	0.81	5.2	5.2	0.72013	.	0.047323	0.85682	D	0.000000	T	0.59432	0.2193	M	0.71581	2.175	0.45979	D	0.998799	D	0.89917	1.0	D	0.87578	0.998	T	0.61792	-0.6990	10	0.46703	T	0.11	.	14.1912	0.65639	1.0:0.0:0.0:0.0	.	1643	Q6Q759	SPG17_HUMAN	S	1643;123	ENSP00000337804:F1643S	ENSP00000337804:F1643S	F	-	2	0	SPAG17	118340641	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.479000	0.66813	2.174000	0.68829	0.533000	0.62120	TTT		0.279	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
WARS2	10352	broad.mit.edu	37	1	119575584	119575584	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:119575584A>G	ENST00000235521.4	-	6	1059	c.1033T>C	c.(1033-1035)Tta>Cta	p.L345L	WARS2_ENST00000537870.1_Silent_p.L251L|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	345					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.L345L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTGTATGCTAATTCTTTGGCT	0.413																																					p.L345L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1033C	1						.						93.0	94.0	93.0					1																	119575584		2203	4300	6503	119377107	SO:0001819	synonymous_variant	10352	exon6			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.1033T>C	1.37:g.119575584A>G		Somatic		Capture	Illumina HiSeq	Phase_I	119377107	NM_015836	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	CCDS900.1																																																																																				0.413	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836	
HAO2	51179	broad.mit.edu	37	1	119923779	119923779	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:119923779T>G	ENST00000325945.3	+	2	144	c.71T>G	c.(70-72)tTt>tGt	p.F24C	HAO2_ENST00000361035.4_Missense_Mutation_p.F37C	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	24	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.F24C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACTCGGGATTTTATTGAAGGT	0.468																																					p.F24C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T71G	1						.						198.0	186.0	190.0					1																	119923779		2203	4300	6503	119725302	SO:0001583	missense	51179	exon2			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.71T>G	1.37:g.119923779T>G	ENSP00000316339:p.Phe24Cys	Somatic		Capture	Illumina HiSeq	Phase_I	119725302	NM_016527	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	CCDS901.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157267	0.38119	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.33865	1.39;1.39;1.39	5.4	-10.8	0.00216	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.423324	0.28322	N	0.015765	T	0.51483	0.1677	M	0.92077	3.27	0.34894	D	0.745822	D	0.76494	0.999	D	0.72338	0.977	T	0.81413	-0.0944	9	.	.	.	-3.6382	19.3489	0.94376	0.8242:0.0:0.0:0.1758	.	24	Q9NYQ3	HAOX2_HUMAN	C	24;37;24	ENSP00000393955:F24C;ENSP00000354314:F37C;ENSP00000316339:F24C	.	F	+	2	0	HAO2	119725302	0.406000	0.25344	0.456000	0.27044	0.048000	0.14542	-0.231000	0.09069	-1.931000	0.01055	-0.301000	0.09380	TTT		0.468	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783	
NBPF7	343505	broad.mit.edu	37	1	120382906	120382906	+	IGR	SNP	A	A	T	rs199971604	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:120382906A>T								REG4 (28623 upstream) : ADAM30 (53249 downstream)														p.D200E(1)									CCTGTACTTTATCAAGCTCCT	0.413																																					p.D200E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T600A	1						.						158.0	157.0	157.0					1																	120382906		2141	4266	6407	120184429	SO:0001628	intergenic_variant	343505	exon4																															1.37:g.120382906A>T		Somatic		Capture	Illumina HiSeq	Phase_I	120184429	NM_001047980		Missense_Mutation	SNP		37																																																																																				0	0.413								
ADAM30	11085	broad.mit.edu	37	1	120436877	120436877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:120436877G>A	ENST00000369400.1	-	1	2241	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	695					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R695C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAAATAAGGCGAAACATTATG	0.448																																					p.R695C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2083T	1						.						74.0	75.0	75.0					1																	120436877		2203	4300	6503	120238400	SO:0001583	missense	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2083C>T	1.37:g.120436877G>A	ENSP00000358407:p.Arg695Cys	Somatic		Capture	Illumina HiSeq	Phase_I	120238400	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881247	0.51801	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01185	5.21	4.94	3.08	0.35506	.	0.000000	0.45867	D	0.000321	T	0.00300	0.0009	N	0.24115	0.695	0.09310	N	1	P	0.38642	0.641	B	0.24269	0.052	T	0.50065	-0.8871	10	0.39692	T	0.17	.	6.7208	0.23328	0.2804:0.0:0.7196:0.0	.	695	Q9UKF2	ADA30_HUMAN	C	695	ENSP00000358407:R695C	ENSP00000358407:R695C	R	-	1	0	ADAM30	120238400	0.004000	0.15560	0.004000	0.12327	0.013000	0.08279	1.150000	0.31639	0.806000	0.34183	0.655000	0.94253	CGC		0.448	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
ADAM30	11085	broad.mit.edu	37	1	120438019	120438019	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:120438019G>T	ENST00000369400.1	-	1	1099	c.941C>A	c.(940-942)tCt>tAt	p.S314Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	314	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S314Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATATTCTAGAGAACACACTTT	0.403																																					p.S314Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C941A	1						.						83.0	83.0	83.0					1																	120438019		2203	4300	6503	120239542	SO:0001583	missense	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.941C>A	1.37:g.120438019G>T	ENSP00000358407:p.Ser314Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	120239542	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902868	0.33628	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.12039	2.72	4.78	-5.62	0.02481	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	3.802300	0.01458	U	0.015758	T	0.05502	0.0145	L	0.49126	1.545	0.09310	N	1	B	0.19935	0.04	B	0.29663	0.105	T	0.49390	-0.8945	10	0.59425	D	0.04	.	8.7689	0.34719	0.0:0.4524:0.1803:0.3673	.	314	Q9UKF2	ADA30_HUMAN	Y	314	ENSP00000358407:S314Y	ENSP00000358407:S314Y	S	-	2	0	ADAM30	120239542	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.708000	0.05035	-0.734000	0.04843	0.563000	0.77884	TCT		0.403	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
NOTCH2	4853	broad.mit.edu	37	1	120461034	120461034	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:120461034T>C	ENST00000256646.2	-	32	6143	c.5924A>G	c.(5923-5925)gAc>gGc	p.D1975G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1975					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.D1975G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTACCATGGTCATCCACTGC	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.D1975G			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5924G	1						.						136.0	109.0	118.0					1																	120461034		2203	4300	6503	120262557	SO:0001583	missense	4853	exon32	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5924A>G	1.37:g.120461034T>C	ENSP00000256646:p.Asp1975Gly	Somatic		Capture	Illumina HiSeq	Phase_I	120262557	NM_024408	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.852764	0.91355	.	.	ENSG00000134250	ENST00000256646	T	0.64991	-0.13	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.39985	U	0.001214	T	0.63094	0.2482	L	0.31926	0.97	0.80722	D	1	D	0.67145	0.996	D	0.70935	0.971	T	0.68565	-0.5375	10	0.62326	D	0.03	.	15.2578	0.73599	0.0:0.0:0.0:1.0	.	1975	Q04721	NOTC2_HUMAN	G	1975	ENSP00000256646:D1975G	ENSP00000256646:D1975G	D	-	2	0	NOTCH2	120262557	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.698000	0.84413	2.202000	0.70862	0.533000	0.62120	GAC		0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
VPS13D	55187	broad.mit.edu	37	1	12569000	12569000	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:12569000C>T	ENST00000358136.3	+	70	13219	c.13089C>T	c.(13087-13089)taC>taT	p.Y4363Y	VPS13D_ENST00000471923.1_Silent_p.Y19Y|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543710.1_Silent_p.Y167Y|VPS13D_ENST00000543766.1_Silent_p.Y361Y|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Silent_p.Y4338Y	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.Y4363Y(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAATAAACTACGCAAAGAGCC	0.512																																					p.Y4338Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13014T	1						.						130.0	132.0	131.0					1																	12569000		2203	4300	6503	12491587	SO:0001819	synonymous_variant	55187	exon69			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.13089C>T	1.37:g.12569000C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12491587	NM_018156		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	3.611	-0.079619	0.07141	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.42	1.92	0.25849	.	.	.	.	.	T	0.55561	0.1928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44421	-0.9329	4	.	.	.	.	7.9533	0.30027	0.0:0.3156:0.0:0.6844	.	.	.	.	M	3185	.	.	T	+	2	0	VPS13D	12491587	0.998000	0.40836	1.000000	0.80357	0.477000	0.33069	0.420000	0.21263	0.069000	0.16605	-0.302000	0.09304	ACG		0.512	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRAMEF1	65121	broad.mit.edu	37	1	12856055	12856055	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:12856055G>A	ENST00000332296.7	+	4	1438	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	PRAMEF1_ENST00000400814.3_Silent_p.R200R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	445					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R445R(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAAGTCAGGCAGCCCAAGA	0.562																																					p.R445R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1335A	1						.						154.0	161.0	158.0					1																	12856055		2202	4296	6498	12778642	SO:0001819	synonymous_variant	65121	exon4			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1335G>A	1.37:g.12856055G>A		Somatic		Capture	Illumina HiSeq	Phase_I	12778642	NM_023013	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																				0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
PRAMEF7	441871	broad.mit.edu	37	1	12980001	12980001	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:12980001G>A	ENST00000361079.2	+	4	1276	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	398					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R398H(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACCTGCTGCGCCACACCGTC	0.607																																					p.R398H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1193A	1						.						1.0	1.0	1.0					1																	12980001		237	651	888	12902588	SO:0001583	missense	391002	exon3				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1193G>A	1.37:g.12980001G>A	ENSP00000354371:p.Arg398His	Somatic		Capture	Illumina HiSeq	Phase_I	12902588	NM_001012277	B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	5.315	0.243431	0.10077	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.49432	0.78;0.78	1.68	-0.879	0.10613	.	1.597000	0.04139	N	0.319241	T	0.16642	0.0400	N	0.02916	-0.46	0.09310	N	1	B	0.30937	0.301	B	0.17722	0.019	T	0.05683	-1.0870	10	0.13853	T	0.58	.	0.5987	0.00740	0.1745:0.2472:0.3285:0.2498	.	398	Q5VXH5	PRAM7_HUMAN	H	398	ENSP00000354371:R398H;ENSP00000328915:R398H	ENSP00000328915:R398H	R	+	2	0	PRAMEF7	12902588	0.000000	0.05858	0.020000	0.16555	0.262000	0.26303	-0.533000	0.06157	-0.207000	0.10187	0.306000	0.20318	CGC		0.607	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277	
NOTCH2	4853	broad.mit.edu	37	1	120464428	120464428	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:120464428G>T	ENST00000256646.2	-	29	5437	c.5218C>A	c.(5218-5220)Ctc>Atc	p.L1740I	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1740					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.L1740I(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCACTGAGAGATTTCTAATA	0.403			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.L1740I			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5218A	1						.						82.0	82.0	82.0					1																	120464428		2203	4300	6503	120265951	SO:0001583	missense	4853	exon29	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5218C>A	1.37:g.120464428G>T	ENSP00000256646:p.Leu1740Ile	Somatic		Capture	Illumina HiSeq	Phase_I	120265951	NM_024408	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208794	0.58343	.	.	ENSG00000134250	ENST00000256646	D	0.83506	-1.73	5.33	5.33	0.75918	.	0.000000	0.33691	U	0.004651	D	0.84138	0.5406	L	0.48260	1.515	0.44316	D	0.997196	D	0.63880	0.993	D	0.70016	0.967	D	0.84525	0.0630	10	0.52906	T	0.07	.	11.5912	0.50947	0.0801:0.0:0.9199:0.0	.	1740	Q04721	NOTC2_HUMAN	I	1740	ENSP00000256646:L1740I	ENSP00000256646:L1740I	L	-	1	0	NOTCH2	120265951	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.235000	0.51328	2.775000	0.95449	0.655000	0.94253	CTC		0.403	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	broad.mit.edu	37	1	144911914	144911914	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:144911914T>C	ENST00000369354.3	-	16	2384	c.2195A>G	c.(2194-2196)aAa>aGa	p.K732R	PDE4DIP_ENST00000529945.1_Missense_Mutation_p.K895R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.K895R|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.K519R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K869R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K869R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K732R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.K732R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K798R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.K732R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	732					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.K732R(1)|p.K895R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACATCCTCTTTGGCAGTCAA	0.378			T	PDGFRB	MPD																																p.K798R			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2393G	1						.						247.0	228.0	235.0					1																	144911914		2203	4300	6503	143623271	SO:0001583	missense	9659	exon19			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2195A>G	1.37:g.144911914T>C	ENSP00000358360:p.Lys732Arg	Somatic		Capture	Illumina HiSeq	Phase_I	143623271	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	4.672	0.124975	0.08931	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12255	4.72;4.83;4.83;4.82;4.83;3.81;3.81;2.71;2.71;2.7	5.53	1.78	0.24846	.	.	.	.	.	T	0.01489	0.0048	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B;B	0.25955	0.138;0.001;0.001;0.001;0.031;0.004	B;B;B;B;B;B	0.15870	0.014;0.006;0.001;0.002;0.008;0.003	T	0.40270	-0.9572	9	0.10377	T	0.69	.	3.0769	0.06249	0.1773:0.1949:0.0:0.6278	.	895;519;732;895;798;732	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	R	798;732;732;895;869;869;732;732;895;895;519	ENSP00000327209:K798R;ENSP00000358360:K732R;ENSP00000358363:K732R;ENSP00000435654:K869R;ENSP00000358366:K869R;ENSP00000358357:K732R;ENSP00000358355:K732R;ENSP00000316434:K895R;ENSP00000433392:K895R;ENSP00000436791:K519R	ENSP00000327209:K798R	K	-	2	0	PDE4DIP	143623271	0.999000	0.42202	1.000000	0.80357	0.558000	0.35554	0.815000	0.27253	0.420000	0.25954	0.529000	0.55759	AAA		0.378	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
RBM8A	9939	broad.mit.edu	37	1	145509040	145509040	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:145509040A>C	ENST00000330165.8	+	5	536	c.467A>C	c.(466-468)aAa>aCa	p.K156T	RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.K155T	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	156					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K156T(1)		kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTCCACCAAAAGGCAAGAGG	0.483																																					p.K156T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A467C	1						.						109.0	110.0	109.0					1																	145509040		2203	4300	6503	144220397	SO:0001583	missense	9939	exon5			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.467A>C	1.37:g.145509040A>C	ENSP00000333001:p.Lys156Thr	Somatic		Capture	Illumina HiSeq	Phase_I	144220397	NM_005105	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	CCDS916.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207951	0.58343	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.74106	-0.81;-0.81	4.02	4.02	0.46733	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	N	0.05467	-0.045	0.58432	D	0.999999	P;P	0.44659	0.84;0.753	B;B	0.42916	0.402;0.227	T	0.42498	-0.9448	9	.	.	.	-11.4297	10.9432	0.47285	1.0:0.0:0.0:0.0	.	155;156	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	T	156;155	ENSP00000333001:K156T;ENSP00000358313:K155T	.	K	+	2	0	RBM8A	144220397	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.999000	0.88496	1.689000	0.51079	0.459000	0.35465	AAA		0.483	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105	
RNF115	27246	broad.mit.edu	37	1	145684643	145684643	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:145684643C>A	ENST00000369291.5	+	7	836	c.632C>A	c.(631-633)tCt>tAt	p.S211Y		NM_014455.2	NP_055270.1			ring finger protein 115									p.S211C(1)|p.S211Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						AAGATCACATCTCTTCCAACA	0.418																																					p.S211Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C632A	1						.						94.0	91.0	92.0					1																	145684643		2203	4300	6503	144396000	SO:0001583	missense	27246	exon7			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.632C>A	1.37:g.145684643C>A	ENSP00000358297:p.Ser211Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	144396000	NM_014455		Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857001	0.71834	.	.	ENSG00000121848	ENST00000369291	T	0.69806	-0.43	5.2	4.27	0.50696	.	0.055535	0.85682	D	0.000000	T	0.64249	0.2581	M	0.69358	2.11	0.54753	D	0.99998	D	0.56035	0.974	P	0.51453	0.67	T	0.69774	-0.5054	10	0.59425	D	0.04	-15.7793	13.5086	0.61497	0.0:0.8424:0.1576:0.0	.	211	Q9Y4L5	RN115_HUMAN	Y	211	ENSP00000358297:S211Y	ENSP00000358297:S211Y	S	+	2	0	RNF115	144396000	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	5.490000	0.66881	1.391000	0.46566	0.655000	0.94253	TCT		0.418	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455	
RNF115	27246	broad.mit.edu	37	1	145688206	145688206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:145688206C>T	ENST00000369291.5	+	9	1105	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_014455.2	NP_055270.1			ring finger protein 115									p.R301*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						GCTACATGACCGATGGACTTT	0.428																																					p.R301X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C901T	1						.						103.0	88.0	93.0					1																	145688206		2203	4300	6503	144399563	SO:0001587	stop_gained	27246	exon9			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.901C>T	1.37:g.145688206C>T	ENSP00000358297:p.Arg301*	Somatic		Capture	Illumina HiSeq	Phase_I	144399563	NM_014455		Nonsense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	C	36	5.859273	0.97036	.	.	ENSG00000121848	ENST00000369291	.	.	.	5.55	5.55	0.83447	.	0.122427	0.53938	D	0.000043	.	.	.	.	.	.	0.38495	D	0.948078	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2167	17.0425	0.86493	0.0:1.0:0.0:0.0	.	.	.	.	X	301	.	ENSP00000358297:R301X	R	+	1	2	RNF115	144399563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.838000	0.55828	2.885000	0.99019	0.655000	0.94253	CGA		0.428	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455	
PDZK1	5174	broad.mit.edu	37	1	145752523	145752523	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:145752523G>A	ENST00000344770.2	+	4	629	c.556G>A	c.(556-558)Gag>Aag	p.E186K	PDZK1_ENST00000417171.1_Missense_Mutation_p.E186K|PDZK1_ENST00000451928.2_Intron	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	186	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)	p.E186K(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AGTGAATGGAGAGAATGTAGA	0.453																																					p.E186K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	1						.						1.0	1.0	1.0					1																	145752523		880	1889	2769	144463880	SO:0001583	missense	5174	exon5			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.556G>A	1.37:g.145752523G>A	ENSP00000342143:p.Glu186Lys	Somatic		Capture	Illumina HiSeq	Phase_I	144463880	NM_002614	B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026188	0.19512	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000344770	T;T;T	0.27256	1.68;1.68;1.68	5.31	4.4	0.53042	PDZ/DHR/GLGF (4);	0.411149	0.26026	N	0.026795	T	0.08313	0.0207	L	0.31476	0.935	0.80722	D	1	B	0.27700	0.186	B	0.37304	0.246	T	0.09975	-1.0650	10	0.10636	T	0.68	.	7.8975	0.29715	0.1802:0.0:0.8198:0.0	.	186	Q5T2W1	NHRF3_HUMAN	K	186	ENSP00000409291:E186K;ENSP00000394485:E186K;ENSP00000342143:E186K	ENSP00000342143:E186K	E	+	1	0	PDZK1	144463880	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	4.770000	0.62309	1.484000	0.48361	-0.218000	0.12543	GAG		0.453	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614	
BCL9	607	broad.mit.edu	37	1	147092214	147092214	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:147092214C>T	ENST00000234739.3	+	8	2993	c.2253C>T	c.(2251-2253)cgC>cgT	p.R751R		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	751	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R751R(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGAAATTACGCCCAGGTGGCT	0.552			T	"""IGH@, IGL@"""	B-ALL																																p.R751R			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2253T	1						.						33.0	34.0	33.0					1																	147092214		2203	4300	6503	145558838	SO:0001819	synonymous_variant	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2253C>T	1.37:g.147092214C>T		Somatic		Capture	Illumina HiSeq	Phase_I	145558838	NM_004326	Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																				0.552	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
BCL9	607	broad.mit.edu	37	1	147094148	147094148	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:147094148T>G	ENST00000234739.3	+	9	3719	c.2979T>G	c.(2977-2979)taT>taG	p.Y993*		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	993	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.Y993*(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTACACCTTATACCATGCCTC	0.498			T	"""IGH@, IGL@"""	B-ALL																																p.Y993X			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2979G	1						.						162.0	165.0	164.0					1																	147094148		2203	4300	6503	145560772	SO:0001587	stop_gained	607	exon9			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2979T>G	1.37:g.147094148T>G	ENSP00000234739:p.Tyr993*	Somatic		Capture	Illumina HiSeq	Phase_I	145560772	NM_004326	Q5T489	Nonsense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	T	47	13.131600	0.99722	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.8	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-9.44	12.8026	0.57594	0.0:0.8646:0.0:0.1354	.	.	.	.	X	993	.	ENSP00000234739:Y993X	Y	+	3	2	BCL9	145560772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.493000	0.45320	0.762000	0.33152	-0.177000	0.13119	TAT		0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
VPS45	11311	broad.mit.edu	37	1	150054896	150054896	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:150054896C>T	ENST00000369130.3	+	10	1579	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	VPS45_ENST00000369128.5_Missense_Mutation_p.R240W|VPS45_ENST00000535106.1_Missense_Mutation_p.R276W	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	345					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.R345W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCAGTGAACGGAATCTGCT	0.458																																					p.R345W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1033T	1						.						138.0	134.0	135.0					1																	150054896		2203	4300	6503	148321520	SO:0001583	missense	11311	exon10			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1033C>T	1.37:g.150054896C>T	ENSP00000358126:p.Arg345Trp	Somatic		Capture	Illumina HiSeq	Phase_I	148321520	NM_007259	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	CCDS944.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145869	0.77888	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.9	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;P;D	0.71184	0.962;0.972;0.9;0.972	D	0.89511	0.3771	10	0.66056	D	0.02	.	14.7992	0.69900	0.3517:0.6483:0.0:0.0	.	240;345;165;345	F5H8K1;Q53FR8;A0AR27;Q9NRW7	.;.;.;VPS45_HUMAN	W	345;240;220;276;276	ENSP00000358126:R345W;ENSP00000358124:R240W;ENSP00000440690:R276W;ENSP00000400143:R276W	ENSP00000358124:R240W	R	+	1	2	VPS45	148321520	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.784000	0.38674	1.452000	0.47756	0.650000	0.86243	CGG		0.458	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259	
HORMAD1	84072	broad.mit.edu	37	1	150689639	150689639	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:150689639G>A	ENST00000361824.2	-	3	258	c.153C>T	c.(151-153)tgC>tgT	p.C51C	HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2C|HORMAD1_ENST00000368993.2_Silent_p.C51C|HORMAD1_ENST00000322343.7_Silent_p.C51C|HORMAD1_ENST00000476530.1_5'UTR	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	51	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.C51C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCATAAGCGCATTCTGGGA	0.318																																					p.C51C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	1						.						88.0	87.0	88.0					1																	150689639		2203	4300	6503	148956263	SO:0001819	synonymous_variant	84072	exon3			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.153C>T	1.37:g.150689639G>A		Somatic		Capture	Illumina HiSeq	Phase_I	148956263	NM_001199829	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671555	0.29693	.	.	ENSG00000143452	ENST00000368995;ENST00000368992;ENST00000540570;ENST00000368987;ENST00000442853	T	0.47177	0.85	5.46	4.33	0.51752	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07009	-1.0795	7	.	.	.	-4.9252	8.0443	0.30540	0.8284:0.0:0.1716:0.0	.	2	Q86X24-4	.	C	2	ENSP00000357991:R2C	.	R	-	1	0	HORMAD1	148956263	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.146000	0.31589	0.903000	0.36546	-0.384000	0.06662	CGC		0.318	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132	
CGN	57530	broad.mit.edu	37	1	151491176	151491176	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:151491176G>A	ENST00000271636.7	+	2	314	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	55	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.A61T(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGGAATCGCTGGGCAGCC	0.602																																					p.A61T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181A	1						.						94.0	93.0	94.0					1																	151491176		2203	4300	6503	149757800	SO:0001583	missense	57530	exon2			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.181G>A	1.37:g.151491176G>A	ENSP00000271636:p.Ala61Thr	Somatic		Capture	Illumina HiSeq	Phase_I	149757800	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361146	0.82353	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.65549	0.79;-0.16	5.06	5.06	0.68205	.	0.109289	0.64402	D	0.000008	T	0.68091	0.2963	L	0.60455	1.87	0.37626	D	0.921494	D	0.76494	0.999	P	0.58820	0.846	T	0.71341	-0.4622	10	0.72032	D	0.01	-10.779	17.5426	0.87852	0.0:0.0:1.0:0.0	.	55	Q9P2M7	CING_HUMAN	T	61	ENSP00000410836:A61T;ENSP00000271636:A61T	ENSP00000271636:A61T	A	+	1	0	CGN	149757800	0.953000	0.32496	0.371000	0.25978	0.947000	0.59692	3.084000	0.50143	2.808000	0.96608	0.655000	0.94253	GCT		0.602	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
SNX27	81609	broad.mit.edu	37	1	151611425	151611425	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:151611425G>A	ENST00000458013.2	+	2	493	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SNX27_ENST00000368838.1_Missense_Mutation_p.E32K|SNX27_ENST00000368843.3_Missense_Mutation_p.E125K			Q96L92	SNX27_HUMAN	sorting nexin family member 27	125	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E125K(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCGAGCAGGCGAGAAGGAATT	0.473																																					p.E125K	Colon(46;291 966 40145 41237 41888)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	1						.						141.0	123.0	129.0					1																	151611425		2203	4300	6503	149878049	SO:0001583	missense	81609	exon2			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.373G>A	1.37:g.151611425G>A	ENSP00000400333:p.Glu125Lys	Somatic		Capture	Illumina HiSeq	Phase_I	149878049	NM_030918	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	G	17.49	3.403361	0.62288	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.50813	0.73;0.73;0.73	4.13	4.13	0.48395	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	N	0.12887	0.27	0.80722	D	1	B;B	0.17852	0.005;0.024	B;B	0.17098	0.017;0.008	T	0.03750	-1.1007	10	0.33141	T	0.24	.	15.4734	0.75458	0.0:0.0:1.0:0.0	.	125;125	Q96L92;Q96L92-3	SNX27_HUMAN;.	K	125;125;32	ENSP00000400333:E125K;ENSP00000357836:E125K;ENSP00000357831:E32K	ENSP00000357831:E32K	E	+	1	0	SNX27	149878049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.179000	0.94861	2.297000	0.77311	0.591000	0.81541	GAG		0.473	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	
CELF3	11189	broad.mit.edu	37	1	151678383	151678383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:151678383C>A	ENST00000290583.4	-	11	1978	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.E190D|CELF3_ENST00000290585.4_Missense_Mutation_p.E345D	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	395	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E395D(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TCTGGAGGATCTCTGAGTCAG	0.498																																					p.E395D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1185T	1						.						108.0	103.0	105.0					1																	151678383		2203	4300	6503	149945007	SO:0001583	missense	11189	exon11			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1185G>T	1.37:g.151678383C>A	ENSP00000290583:p.Glu395Asp	Somatic		Capture	Illumina HiSeq	Phase_I	149945007	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.19|15.19	2.761217|2.761217	0.49468|0.49468	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706|ENST00000420342	T;T;T|.	0.15952|.	2.38;2.38;2.38|.	5.0|5.0	3.15|3.15	0.36227|0.36227	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.119130|.	0.56097|.	D|.	0.000036|.	T|T	0.12220|0.12220	0.0297|0.0297	N|N	0.02721|0.02721	-0.515|-0.515	0.53005|0.53005	D|D	0.999966|0.999966	B;P;P;D;B|.	0.71674|.	0.166;0.757;0.859;0.998;0.257|.	B;P;P;D;B|.	0.80764|.	0.174;0.722;0.654;0.994;0.084|.	T|T	0.07501|0.07501	-1.0769|-1.0769	10|5	0.10111|.	T|.	0.7|.	-26.9334|-26.9334	9.563|9.563	0.39380|0.39380	0.0:0.8292:0.0:0.1708|0.0:0.8292:0.0:0.1708	.|.	190;345;394;395;394|.	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3|.	.;.;.;CELF3_HUMAN;.|.	D|I	345;395;190|396	ENSP00000290585:E345D;ENSP00000290583:E395D;ENSP00000376470:E190D|.	ENSP00000290583:E395D|.	E|R	-|-	3|2	2|0	CELF3|CELF3	149945007|149945007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.525000|2.525000	0.45598|0.45598	0.716000|0.716000	0.32124|0.32124	-0.395000|-0.395000	0.06472|0.06472	GAG|AGA		0.498	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
TCHHL1	126637	broad.mit.edu	37	1	152059465	152059465	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:152059465G>T	ENST00000368806.1	-	3	757	c.693C>A	c.(691-693)atC>atA	p.I231I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	231							calcium ion binding (GO:0005509)	p.I231I(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCCTGGGAGATCTCCTTAT	0.463																																					p.I231I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693A	1						.						140.0	126.0	131.0					1																	152059465		2203	4300	6503	150326089	SO:0001819	synonymous_variant	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.693C>A	1.37:g.152059465G>T		Somatic		Capture	Illumina HiSeq	Phase_I	150326089	NM_001008536	B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	CCDS30857.1																																																																																				0.463	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
HRNR	388697	broad.mit.edu	37	1	152192146	152192146	+	Silent	SNP	G	G	T	rs148441476	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:152192146G>T	ENST00000368801.2	-	3	2034	c.1959C>A	c.(1957-1959)ggC>ggA	p.G653G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	653					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G653G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGATCCAGAGCCCTGTTGGC	0.587													g|||	10	0.00199681	0.0	0.0	5008	,	,		22977	0.0099		0.0	False		,,,				2504	0.0				p.G653G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1959A	1						.						176.0	184.0	182.0					1																	152192146		2203	4300	6503	150458770	SO:0001819	synonymous_variant	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1959C>A	1.37:g.152192146G>T		Somatic		Capture	Illumina HiSeq	Phase_I	150458770	NM_001009931	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	broad.mit.edu	37	1	152281602	152281602	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:152281602C>A	ENST00000368799.1	-	3	5795	c.5760G>T	c.(5758-5760)caG>caT	p.Q1920H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1920	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1920H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACTGTCCTGGCTAACAC	0.567									Ichthyosis																												p.Q1920H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5760T	1						.						232.0	231.0	232.0					1																	152281602		2203	4298	6501	150548226	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5760G>T	1.37:g.152281602C>A	ENSP00000357789:p.Gln1920His	Somatic		Capture	Illumina HiSeq	Phase_I	150548226	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964334	0.18583	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.23348	1.91	3.06	1.11	0.20524	.	.	.	.	.	T	0.27098	0.0664	M	0.81682	2.555	0.09310	N	1	D	0.62365	0.991	D	0.78314	0.991	T	0.09907	-1.0653	9	0.19147	T	0.46	.	4.6394	0.12541	0.0:0.6838:0.0:0.3162	.	1920	P20930	FILA_HUMAN	H	1920;155	ENSP00000357789:Q1920H	ENSP00000271820:Q155H	Q	-	3	2	FLG	150548226	0.071000	0.21146	0.001000	0.08648	0.003000	0.03518	0.771000	0.26633	0.616000	0.30141	0.586000	0.80456	CAG		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152286527	152286527	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:152286527T>C	ENST00000368799.1	-	3	870	c.835A>G	c.(835-837)Aca>Gca	p.T279A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	279	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T279A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGGCTTGTATTTTCATGT	0.443									Ichthyosis																												p.T279A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A835G	1						.						258.0	264.0	262.0					1																	152286527		2203	4300	6503	150553151	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.835A>G	1.37:g.152286527T>C	ENSP00000357789:p.Thr279Ala	Somatic		Capture	Illumina HiSeq	Phase_I	150553151	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	1.607	-0.525008	0.04141	.	.	ENSG00000143631	ENST00000368799	T	0.03181	4.02	1.28	-2.57	0.06248	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	P	0.54238	0.746	T	0.17837	-1.0356	9	0.13108	T	0.6	4.801	3.8812	0.09079	0.2728:0.0:0.5255:0.2016	.	279	P20930	FILA_HUMAN	A	279	ENSP00000357789:T279A	ENSP00000357789:T279A	T	-	1	0	FLG	150553151	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.664000	0.00201	-2.395000	0.00582	-2.715000	0.00133	ACA		0.443	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
IVL	3713	broad.mit.edu	37	1	152883741	152883741	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:152883741C>A	ENST00000368764.3	+	2	1532	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	IVL_ENST00000392667.2_Missense_Mutation_p.L344M			P07476	INVO_HUMAN	involucrin	490	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.L490M(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGCACAGCTGGAGCTCCC	0.587																																					p.L490M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1468A	1						.						65.0	65.0	65.0					1																	152883741		2171	4263	6434	151150365	SO:0001583	missense	3713	exon2			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1468C>A	1.37:g.152883741C>A	ENSP00000357753:p.Leu490Met	Somatic		Capture	Illumina HiSeq	Phase_I	151150365	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230059	0.22542	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.25414	2.42;1.8	3.03	-1.88	0.07713	.	.	.	.	.	T	0.06508	0.0167	L	0.36672	1.1	0.09310	N	1	B	0.24721	0.11	B	0.28139	0.086	T	0.41378	-0.9512	9	0.44086	T	0.13	-0.035	4.5691	0.12202	0.3086:0.4373:0.2541:0.0	.	490	P07476	INVO_HUMAN	M	490;344	ENSP00000357753:L490M;ENSP00000376435:L344M	ENSP00000357753:L490M	L	+	1	2	IVL	151150365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.291000	0.02775	-0.083000	0.12618	-0.309000	0.09137	CTG		0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
SPRR3	6707	broad.mit.edu	37	1	152975656	152975656	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:152975656C>T	ENST00000295367.4	+	2	202	c.160C>T	c.(160-162)Cca>Tca	p.P54S	SPRR3_ENST00000331860.3_Missense_Mutation_p.P54S|SPRR3_ENST00000542696.1_Missense_Mutation_p.P54S	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	54	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.P54S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAAGATTCCAGAGCCAGG	0.552																																					p.P54S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C160T	1						.						79.0	68.0	72.0					1																	152975656		2203	4300	6503	151242280	SO:0001583	missense	6707	exon2			AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.160C>T	1.37:g.152975656C>T	ENSP00000295367:p.Pro54Ser	Somatic		Capture	Illumina HiSeq	Phase_I	151242280	NM_001097589	A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660059	0.47572	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.22	-0.25	0.13007	.	.	.	.	.	T	0.17704	0.0425	M	0.77486	2.375	0.23076	N	0.998332	D;P	0.64830	0.994;0.896	P;P	0.61800	0.894;0.548	T	0.04579	-1.0941	9	0.66056	D	0.02	.	4.372	0.11253	0.1493:0.3215:0.4383:0.0909	.	54;54	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	S	54	ENSP00000330391:P54S;ENSP00000402016:P54S;ENSP00000295367:P54S;ENSP00000441477:P54S	ENSP00000295367:P54S	P	+	1	0	SPRR3	151242280	0.000000	0.05858	0.002000	0.10522	0.252000	0.25951	-0.470000	0.06639	-0.284000	0.09102	0.563000	0.77884	CCA		0.552	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416	
SPRR2B	6701	broad.mit.edu	37	1	153043118	153043118	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:153043118C>A	ENST00000368755.2	-	1	198	c.198G>T	c.(196-198)aaG>aaT	p.K66N	SPRR2B_ENST00000368752.4_Missense_Mutation_p.K66N|SPRR2B_ENST00000341611.2_Missense_Mutation_p.K66N			P35325	SPR2B_HUMAN	small proline-rich protein 2B	66					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.K66N(2)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGTGGATACTTTGGCTGGC	0.542																																					p.K66N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G198T	1						.						251.0	222.0	232.0					1																	153043118		2203	4300	6503	151309742	SO:0001583	missense	6701	exon3			AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.198G>T	1.37:g.153043118C>A	ENSP00000357744:p.Lys66Asn	Somatic		Capture	Illumina HiSeq	Phase_I	151309742	NM_001017418	Q5T528	Missense_Mutation	SNP	ENST00000368755.2	37	CCDS30865.1	.	.	.	.	.	.	.	.	.	.	C	7.841	0.722012	0.15372	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	T;T;T	0.36520	1.25;1.25;1.25	3.2	1.01	0.19927	.	0.000000	0.37219	N	0.002189	T	0.32436	0.0829	.	.	.	0.21984	N	0.999438	D	0.65815	0.995	D	0.63703	0.917	T	0.08066	-1.0740	9	0.87932	D	0	.	4.237	0.10630	0.2224:0.6363:0.0:0.1413	.	66	P35325	SPR2B_HUMAN	N	66	ENSP00000357744:K66N;ENSP00000340703:K66N;ENSP00000357741:K66N	ENSP00000340703:K66N	K	-	3	2	SPRR2B	151309742	0.299000	0.24426	0.979000	0.43373	0.009000	0.06853	0.703000	0.25646	0.437000	0.26423	0.455000	0.32223	AAG		0.542	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2		
NPR1	4881	broad.mit.edu	37	1	153661760	153661760	+	Silent	SNP	G	G	A	rs141781853		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:153661760G>A	ENST00000368680.3	+	17	3133	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	887	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.A887A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTTTCACAGCGCTGTCGGCGG	0.582																																					p.A887A	Pancreas(141;1349 1870 15144 15830 40702)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2661A	1						.	G		2,4404	4.2+/-10.8	0,2,2201	137.0	121.0	126.0		2661	0.2	1.0	1	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	NPR1	NM_000906.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		887/1062	153661760	2,13004	2203	4300	6503	151928384	SO:0001819	synonymous_variant	4881	exon17			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2661G>A	1.37:g.153661760G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151928384	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	CCDS1051.1																																																																																				0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
NUP210L	91181	broad.mit.edu	37	1	154099839	154099839	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:154099839A>G	ENST00000368559.3	-	9	1204	c.1133T>C	c.(1132-1134)gTc>gCc	p.V378A	NUP210L_ENST00000271854.3_Missense_Mutation_p.V378A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	378					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.V378A(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TACTGTAATGACATATACCTG	0.368																																					p.V378A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1133C	1						.						100.0	95.0	96.0					1																	154099839		1844	4097	5941	152366463	SO:0001583	missense	91181	exon9			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1133T>C	1.37:g.154099839A>G	ENSP00000357547:p.Val378Ala	Somatic		Capture	Illumina HiSeq	Phase_I	152366463	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	0.776	-0.763973	0.02996	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05139	3.49;3.49	4.61	1.09	0.20402	.	0.978051	0.08355	N	0.958633	T	0.00724	0.0024	N	0.11927	0.2	0.24750	N	0.992988	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.003	T	0.46582	-0.9181	10	0.05620	T	0.96	2.4934	4.8202	0.13387	0.4469:0.176:0.3771:0.0	.	378;378	E7EP56;Q5VU65	.;P210L_HUMAN	A	378	ENSP00000357547:V378A;ENSP00000271854:V378A	ENSP00000271854:V378A	V	-	2	0	NUP210L	152366463	0.002000	0.14202	0.972000	0.41901	0.498000	0.33706	0.327000	0.19663	0.026000	0.15269	0.402000	0.26972	GTC		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
TDRD10	126668	broad.mit.edu	37	1	154519897	154519897	+	Missense_Mutation	SNP	C	C	T	rs372155332		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:154519897C>T	ENST00000368480.3	+	12	1050	c.965C>T	c.(964-966)tCg>tTg	p.S322L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.S322L			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	322							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S322L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATTTTGAGTTCGTATGAGGTT	0.517																																					p.S322L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C965T	1						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	188.0	143.0	158.0		965,965	3.2	0.0	1		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TDRD10	NM_182499.3,NM_001098475.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	322/352,322/367	154519897	1,13005	2203	4300	6503	152786521	SO:0001583	missense	126668	exon12			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.965C>T	1.37:g.154519897C>T	ENSP00000357465:p.Ser322Leu	Somatic		Capture	Illumina HiSeq	Phase_I	152786521	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161244	0.78226	0.0	1.16E-4	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.37235	1.24;1.21	5.08	3.17	0.36434	.	0.133058	0.32503	N	0.006013	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B;B	0.24132	0.059;0.098	B;B	0.16722	0.013;0.016	T	0.40590	-0.9555	10	0.05721	T	0.95	-1.2775	6.7139	0.23292	0.0:0.7261:0.1792:0.0947	.	322;322	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	L	322	ENSP00000357467:S322L;ENSP00000357465:S322L	ENSP00000357465:S322L	S	+	2	0	TDRD10	152786521	0.000000	0.05858	0.001000	0.08648	0.453000	0.32348	0.436000	0.21526	0.708000	0.31955	0.655000	0.94253	TCG		0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
CHRNB2	1141	broad.mit.edu	37	1	154543767	154543767	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:154543767G>T	ENST00000368476.3	+	5	732	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	156					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.K156N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCGCATGCAAGATTGAAGTAA	0.527																																					p.K156N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G468T	1						.						120.0	104.0	110.0					1																	154543767		2203	4300	6503	152810391	SO:0001583	missense	1141	exon5			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.468G>T	1.37:g.154543767G>T	ENSP00000357461:p.Lys156Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152810391	NM_000748	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460763	0.63513	.	.	ENSG00000160716	ENST00000368476	T	0.79454	-1.27	4.38	3.46	0.39613	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.054728	0.64402	D	0.000002	T	0.78935	0.4362	L	0.55990	1.75	0.58432	D	0.999992	D	0.71674	0.998	D	0.72625	0.978	T	0.79766	-0.1665	10	0.49607	T	0.09	.	11.9219	0.52797	0.0866:0.0:0.9134:0.0	.	156	P17787	ACHB2_HUMAN	N	156	ENSP00000357461:K156N	ENSP00000357461:K156N	K	+	3	2	CHRNB2	152810391	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.686000	0.46968	1.027000	0.39758	0.563000	0.77884	AAG		0.527	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
ADAR	103	broad.mit.edu	37	1	154557306	154557306	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:154557306C>A	ENST00000368474.4	-	15	3856	c.3657G>T	c.(3655-3657)aaG>aaT	p.K1219N	ADAR_ENST00000368471.3_Missense_Mutation_p.K924N|ADAR_ENST00000292205.5_Missense_Mutation_p.K1262N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1219	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K1219N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GATAAAAGTTCTTTTCCTCCT	0.478																																					p.K1174N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3522T	1						.						118.0	118.0	118.0					1																	154557306		2203	4300	6503	152823930	SO:0001583	missense	103	exon15			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3657G>T	1.37:g.154557306C>A	ENSP00000357459:p.Lys1219Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152823930	NM_015841	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533925	0.64972	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.15017	2.64;2.64;2.46;2.65	4.76	4.76	0.60689	Adenosine deaminase/editase (2);	0.101502	0.64402	D	0.000004	T	0.23171	0.0560	L	0.56769	1.78	0.53688	D	0.999973	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.78314	0.963;0.945;0.991	T	0.01108	-1.1449	10	0.59425	D	0.04	-26.9339	6.6839	0.23134	0.0:0.6909:0.1559:0.1532	.	1174;1193;1219	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	N	1262;1219;924;1188	ENSP00000292205:K1262N;ENSP00000357459:K1219N;ENSP00000357456:K924N;ENSP00000431794:K1188N	ENSP00000292205:K1262N	K	-	3	2	ADAR	152823930	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.357000	0.20199	2.635000	0.89317	0.655000	0.94253	AAG		0.478	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
CKS1B	1163	broad.mit.edu	37	1	154947236	154947236	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:154947236A>C	ENST00000308987.5	+	1	62	c.15A>C	c.(13-15)caA>caC	p.Q5H	MIR4258_ENST00000580920.1_RNA|CKS1B_ENST00000368436.1_Missense_Mutation_p.Q5H|CKS1B_ENST00000368439.1_5'UTR|SHC1_ENST00000368450.1_5'Flank|SHC1_ENST00000368453.4_5'Flank	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	5					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.Q5H(1)		breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCACAAACAAATTTACTATT	0.577																																					p.Q5H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A15C	1						.						49.0	42.0	44.0					1																	154947236		2203	4300	6503	153213860	SO:0001583	missense	1163	exon1			BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.15A>C	1.37:g.154947236A>C	ENSP00000311083:p.Gln5His	Somatic		Capture	Illumina HiSeq	Phase_I	153213860	NM_001826	P33551	Missense_Mutation	SNP	ENST00000308987.5	37	CCDS1077.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.141538	0.37825	.	.	ENSG00000173207	ENST00000368436;ENST00000308987	.	.	.	5.12	-7.07	0.01563	.	0.125823	0.56097	D	0.000039	T	0.17619	0.0423	.	.	.	0.28435	N	0.917061	B	0.20368	0.044	B	0.21917	0.037	T	0.02391	-1.1166	8	0.62326	D	0.03	.	15.2445	0.73497	0.2758:0.094:0.6302:0.0	.	5	P61024	CKS1_HUMAN	H	5	.	ENSP00000311083:Q5H	Q	+	3	2	CKS1B	153213860	0.033000	0.19621	0.433000	0.26760	0.894000	0.52154	-0.860000	0.04272	-2.323000	0.00639	-1.751000	0.00678	CAA		0.577	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1	NM_001826	
ASH1L	55870	broad.mit.edu	37	1	155324369	155324369	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:155324369G>A	ENST00000368346.3	-	16	7762	c.7123C>T	c.(7123-7125)Cgt>Tgt	p.R2375C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2370C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2375					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2370C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTTTTTGACGAATCTTCTCC	0.373																																					p.R2370C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7108T	1						.						210.0	183.0	192.0					1																	155324369		2203	4300	6503	153590993	SO:0001583	missense	55870	exon16			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7123C>T	1.37:g.155324369G>A	ENSP00000357330:p.Arg2375Cys	Somatic		Capture	Illumina HiSeq	Phase_I	153590993	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	17.09	3.299486	0.60195	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90732	-2.72;-2.72	5.4	4.43	0.53597	Bromodomain (1);	0.126871	0.52532	D	0.000065	D	0.89347	0.6689	L	0.60455	1.87	0.80722	D	1	D;D	0.63880	0.988;0.993	B;P	0.48795	0.386;0.59	D	0.90572	0.4523	10	0.87932	D	0	.	16.4553	0.84011	0.0:0.0:0.8603:0.1397	.	2375;2370	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	2375;2370	ENSP00000357330:R2375C;ENSP00000376204:R2370C	ENSP00000357330:R2375C	R	-	1	0	ASH1L	153590993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.785000	0.47782	2.814000	0.96858	0.655000	0.94253	CGT		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155327510	155327510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:155327510G>A	ENST00000368346.3	-	14	7480	c.6841C>T	c.(6841-6843)Cga>Tga	p.R2281*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R2276*|RNU6-106P_ENST00000384405.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2281	Catalytic domain.|Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2276*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGATTCCTCGACATTTCTCA	0.433																																					p.R2276X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6826T	1						.						131.0	117.0	122.0					1																	155327510		2203	4300	6503	153594134	SO:0001587	stop_gained	55870	exon14			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6841C>T	1.37:g.155327510G>A	ENSP00000357330:p.Arg2281*	Somatic		Capture	Illumina HiSeq	Phase_I	153594134	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	g	51	18.079629	0.99899	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.11	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4524	0.61178	0.0:0.0:0.7163:0.2837	.	.	.	.	X	2281;2276	.	ENSP00000357330:R2281X	R	-	1	2	ASH1L	153594134	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.107000	0.57811	1.342000	0.45619	0.573000	0.79308	CGA		0.433	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155448757	155448757	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:155448757G>A	ENST00000368346.3	-	3	4543	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302W			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R1302W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGAGTGATCCGAATTTCACTT	0.398																																					p.R1302W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3904T	1						.						99.0	104.0	102.0					1																	155448757		2203	4300	6503	153715381	SO:0001583	missense	55870	exon3			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3904C>T	1.37:g.155448757G>A	ENSP00000357330:p.Arg1302Trp	Somatic		Capture	Illumina HiSeq	Phase_I	153715381	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	15.51	2.855003	0.51376	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.93133	-3.17;-3.17	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.92596	0.7648	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	D	0.93645	0.6968	10	0.87932	D	0	.	12.2178	0.54416	0.0:0.0:0.7268:0.2732	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	W	1302	ENSP00000357330:R1302W;ENSP00000376204:R1302W	ENSP00000357330:R1302W	R	-	1	2	ASH1L	153715381	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.117000	0.64667	2.555000	0.86185	0.591000	0.81541	CGG		0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
YY1AP1	55249	broad.mit.edu	37	1	155630197	155630197	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:155630197A>C	ENST00000295566.4	-	11	1665	c.1642T>G	c.(1642-1644)Ttg>Gtg	p.L548V	YY1AP1_ENST00000359205.5_Missense_Mutation_p.L491V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.L502V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.L502V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.L491V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.L640V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.L482V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.L348V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.L502V|YY1AP1_ENST00000368340.5_Missense_Mutation_p.L620V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.L471V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.L471V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	548					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L548V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GAAGAGAGCAAAGTCTGGGAC	0.562																																					p.L502V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1504G	1						.						55.0	54.0	54.0					1																	155630197		2203	4300	6503	153896821	SO:0001583	missense	55249	exon10			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1642T>G	1.37:g.155630197A>C	ENSP00000295566:p.Leu548Val	Somatic		Capture	Illumina HiSeq	Phase_I	153896821	NM_001198901	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	8.579	0.881840	0.17467	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	2.25	-4.45	0.03546	.	1.717000	0.03591	N	0.231922	T	0.30262	0.0759	L	0.44542	1.39	0.09310	N	1	B;B;P;B;B	0.43578	0.0;0.009;0.811;0.047;0.018	B;B;P;B;B	0.60173	0.001;0.009;0.87;0.022;0.016	T	0.36040	-0.9764	10	0.25106	T	0.35	.	1.9215	0.03308	0.2093:0.2183:0.4325:0.1399	.	640;482;548;502;620	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	V	491;502;471;502;491;620;548;502;471;482;640;348	ENSP00000352134:L491V;ENSP00000347686:L502V;ENSP00000311138:L471V;ENSP00000316079:L502V;ENSP00000355298:L491V;ENSP00000357324:L620V;ENSP00000295566:L548V;ENSP00000357314:L502V;ENSP00000385791:L471V;ENSP00000385390:L482V;ENSP00000357323:L640V;ENSP00000437926:L348V	ENSP00000295566:L548V	L	-	1	2	YY1AP1	153896821	0.000000	0.05858	0.004000	0.12327	0.954000	0.61252	-0.639000	0.05446	-0.858000	0.04110	0.254000	0.18369	TTG		0.562	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
IQGAP3	128239	broad.mit.edu	37	1	156498715	156498715	+	Missense_Mutation	SNP	C	C	T	rs182191022	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:156498715C>T	ENST00000361170.2	-	35	4574	c.4564G>A	c.(4564-4566)Gac>Aac	p.D1522N	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1522					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.D1522N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACTTGGAGTCGGGGGCCAGG	0.572													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20690	0.0		0.0	False		,,,				2504	0.001				p.D1522N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4564A	1						.						87.0	87.0	87.0					1																	156498715		2203	4300	6503	154765339	SO:0001583	missense	128239	exon35			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4564G>A	1.37:g.156498715C>T	ENSP00000354451:p.Asp1522Asn	Somatic		Capture	Illumina HiSeq	Phase_I	154765339	NM_178229	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.802	0.933129	0.18131	.	.	ENSG00000183856	ENST00000361170	T	0.39592	1.07	4.41	-1.27	0.09347	RasGAP protein, C-terminal (1);	0.761500	0.12908	N	0.429198	T	0.04272	0.0118	N	0.01048	-1.04	0.35805	D	0.823427	B	0.02656	0.0	B	0.01281	0.0	T	0.24083	-1.0170	10	0.35671	T	0.21	-0.256	4.7325	0.12972	0.0:0.1947:0.2989:0.5064	.	1522	Q86VI3	IQGA3_HUMAN	N	1522	ENSP00000354451:D1522N	ENSP00000354451:D1522N	D	-	1	0	IQGAP3	154765339	0.664000	0.27457	0.951000	0.38953	0.316000	0.28119	0.832000	0.27490	-0.300000	0.08895	-0.339000	0.08088	GAC		0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
INSRR	3645	broad.mit.edu	37	1	156811497	156811497	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:156811497A>G	ENST00000368195.3	-	20	3883	c.3487T>C	c.(3487-3489)Tcc>Ccc	p.S1163P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S1163P(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTTTGAGGGACTCGGGGGCC	0.632																																					p.S1163P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3487C	1						.						61.0	62.0	61.0					1																	156811497		2203	4300	6503	155078121	SO:0001583	missense	3645	exon20			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3487T>C	1.37:g.156811497A>G	ENSP00000357178:p.Ser1163Pro	Somatic		Capture	Illumina HiSeq	Phase_I	155078121	NM_014215	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924784	0.73213	.	.	ENSG00000027644	ENST00000368195	D	0.89415	-2.51	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000325	D	0.92567	0.7639	.	.	.	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.93516	0.6857	9	0.87932	D	0	.	10.5421	0.45039	0.8381:0.1619:0.0:0.0	.	1163	P14616	INSRR_HUMAN	P	1163	ENSP00000357178:S1163P	ENSP00000357178:S1163P	S	-	1	0	INSRR	155078121	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.986000	0.56937	2.132000	0.65825	0.459000	0.35465	TCC		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
PEAR1	375033	broad.mit.edu	37	1	156876660	156876660	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:156876660G>T	ENST00000338302.3	+	7	857	c.632G>T	c.(631-633)aGa>aTa	p.R211I	PEAR1_ENST00000292357.7_Missense_Mutation_p.R211I			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	211					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R211I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGCAGAGAGAACTGGGCCC	0.587																																					p.R211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G632T	1						.						30.0	32.0	31.0					1																	156876660		2203	4300	6503	155143284	SO:0001583	missense	375033	exon6			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.632G>T	1.37:g.156876660G>T	ENSP00000344465:p.Arg211Ile	Somatic		Capture	Illumina HiSeq	Phase_I	155143284	NM_001080471	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743580	0.49151	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33216	1.42;1.42	4.81	2.78	0.32641	EGF-like region, conserved site (1);	0.353403	0.24578	N	0.037327	T	0.05640	0.0148	N	0.16166	0.38	0.43953	D	0.996628	B	0.23540	0.087	B	0.21546	0.035	T	0.20174	-1.0283	9	.	.	.	.	6.0928	0.20003	0.3459:0.0:0.6541:0.0	.	211	Q5VY43	PEAR1_HUMAN	I	211	ENSP00000344465:R211I;ENSP00000292357:R211I	.	R	+	2	0	PEAR1	155143284	0.000000	0.05858	0.986000	0.45419	0.967000	0.64934	0.012000	0.13287	0.521000	0.28445	0.561000	0.74099	AGA		0.587	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471	
CD1C	911	broad.mit.edu	37	1	158260952	158260952	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158260952C>A	ENST00000368170.3	+	2	369	c.90C>A	c.(88-90)gtC>gtA	p.V30V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	30					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.V30V(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCTTCCATGTCATCCAGATCT	0.478																																					p.V30V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90A	1						.						74.0	64.0	68.0					1																	158260952		2203	4300	6503	156527576	SO:0001819	synonymous_variant	911	exon2			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.90C>A	1.37:g.158260952C>A		Somatic		Capture	Illumina HiSeq	Phase_I	156527576	NM_001765	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	CCDS1175.1																																																																																				0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	
CELA2B	51032	broad.mit.edu	37	1	15808798	15808798	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:15808798A>G	ENST00000375910.3	+	4	291	c.266A>G	c.(265-267)aAc>aGc	p.N89S	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.N89S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGCCAGCATAACCTCTACGTT	0.577																																					p.N89S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A266G	1						.						85.0	82.0	83.0					1																	15808798		2203	4300	6503	15681385	SO:0001583	missense	51032	exon4				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.266A>G	1.37:g.15808798A>G	ENSP00000365075:p.Asn89Ser	Somatic		Capture	Illumina HiSeq	Phase_I	15681385	NM_015849	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	A	3.123	-0.180082	0.06380	.	.	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.93307	-3.2;-2.71	3.08	2.03	0.26663	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.549745	0.16991	N	0.191302	D	0.84714	0.5533	N	0.17723	0.515	0.21967	N	0.999447	B	0.09022	0.002	B	0.12156	0.007	T	0.72899	-0.4152	10	0.38643	T	0.18	.	4.877	0.13662	0.3532:0.0:0.6468:0.0	.	89	P08218	CEL2B_HUMAN	S	89;96;108	ENSP00000365075:N89S;ENSP00000399811:N108S	ENSP00000365074:N96S	N	+	2	0	CELA2B	15681385	1.000000	0.71417	0.080000	0.20451	0.002000	0.02628	2.279000	0.43435	0.443000	0.26582	0.317000	0.21355	AAC		0.577	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849	
OR10T2	128360	broad.mit.edu	37	1	158368397	158368397	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158368397G>T	ENST00000334438.1	-	1	859	c.860C>A	c.(859-861)cCt>cAt	p.P287H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTAGACAAGAGGATTAAGTAA	0.433																																					p.P287H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860A	1						.						60.0	53.0	55.0					1																	158368397		2203	4300	6503	156635021	SO:0001583	missense	128360	exon1			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.860C>A	1.37:g.158368397G>T	ENSP00000334115:p.Pro287His	Somatic		Capture	Illumina HiSeq	Phase_I	156635021	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908341	0.72868	.	.	ENSG00000186306	ENST00000334438	T	0.64260	-0.09	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000827	D	0.83857	0.5345	H	0.96633	3.855	0.38734	D	0.953734	D	0.89917	1.0	D	0.79108	0.992	D	0.89753	0.3941	10	0.87932	D	0	.	16.2855	0.82717	0.0:0.0:1.0:0.0	.	287	Q8NGX3	O10T2_HUMAN	H	287	ENSP00000334115:P287H	ENSP00000334115:P287H	P	-	2	0	OR10T2	156635021	1.000000	0.71417	0.975000	0.42487	0.900000	0.52787	7.205000	0.77881	2.359000	0.80004	0.655000	0.94253	CCT		0.433	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475	
OR10X1	128367	broad.mit.edu	37	1	158549416	158549416	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158549416T>C	ENST00000368150.1	-	1	273	c.274A>G	c.(274-276)Acc>Gcc	p.T92A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T92A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGGACGATGGTCAGCGTATAG	0.502																																					p.T92A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A274G	1						.						106.0	100.0	102.0					1																	158549416		2203	4300	6503	156816040	SO:0001583	missense	128367	exon1			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.274A>G	1.37:g.158549416T>C	ENSP00000357132:p.Thr92Ala	Somatic		Capture	Illumina HiSeq	Phase_I	156816040	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	0.806	-0.753790	0.03041	.	.	ENSG00000186400	ENST00000368150	T	0.00353	7.94	5.13	-9.62	0.00547	GPCR, rhodopsin-like superfamily (1);	0.564790	0.16019	N	0.233433	T	0.00039	0.0001	N	0.13168	0.305	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.43893	-0.9363	10	0.31617	T	0.26	.	6.1095	0.20092	0.2566:0.244:0.0:0.4995	.	92	Q8NGY0	O10X1_HUMAN	A	92	ENSP00000357132:T92A	ENSP00000357132:T92A	T	-	1	0	OR10X1	156816040	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.070000	0.01380	-1.809000	0.01232	-0.248000	0.11899	ACC		0.502	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
SPTA1	6708	broad.mit.edu	37	1	158618370	158618370	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158618370G>T	ENST00000368147.4	-	26	3823	c.3643C>A	c.(3643-3645)Ctg>Atg	p.L1215M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1215					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L1215M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACACTGAACAGATCTGAGCCA	0.507																																					p.L1215M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3643A	1						.						121.0	121.0	121.0					1																	158618370		1963	4147	6110	156884994	SO:0001583	missense	6708	exon26			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3643C>A	1.37:g.158618370G>T	ENSP00000357129:p.Leu1215Met	Somatic		Capture	Illumina HiSeq	Phase_I	156884994	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348779	0.61183	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.59502	0.26;0.26	5.5	2.43	0.29744	.	0.000000	0.26352	N	0.024871	T	0.72938	0.3523	M	0.93808	3.46	0.42298	D	0.992163	D	0.89917	1.0	D	0.91635	0.999	T	0.76908	-0.2785	10	0.87932	D	0	.	8.59	0.33682	0.3236:0.0:0.6764:0.0	.	1215	P02549	SPTA1_HUMAN	M	1215	ENSP00000357130:L1215M;ENSP00000357129:L1215M	ENSP00000357129:L1215M	L	-	1	2	SPTA1	156884994	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.915000	0.39976	0.804000	0.34136	-0.136000	0.14681	CTG		0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	114					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.T114A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCCCTTGTTTTTTCCAGT	0.378																																					p.T114A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A340G	1						.						235.0	210.0	218.0					1																	158653211		1858	4108	5966	156919835	SO:0001583	missense	6708	exon3			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.340A>G	1.37:g.158653211T>C	ENSP00000357129:p.Thr114Ala	Somatic		Capture	Illumina HiSeq	Phase_I	156919835	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560385	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	6.17	3.8	0.43715	.	0.857574	0.09455	N	0.799845	T	0.20780	0.0500	L	0.33189	0.99	0.33042	D	0.531638	B	0.16396	0.017	B	0.34452	0.183	T	0.19943	-1.0290	10	0.09084	T	0.74	.	12.4308	0.55573	0.0:0.0:0.265:0.735	.	114	P02549	SPTA1_HUMAN	A	114	ENSP00000357130:T114A;ENSP00000357129:T114A	ENSP00000357129:T114A	T	-	1	0	SPTA1	156919835	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	4.297000	0.59061	0.518000	0.28383	0.533000	0.62120	ACA		0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6N1	128372	broad.mit.edu	37	1	158736100	158736100	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158736100C>A	ENST00000335094.2	-	1	392	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGGCAGATGGCTAAATACCTA	0.527																																					p.A125S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373T	1						.						47.0	52.0	50.0					1																	158736100		2203	4300	6503	157002724	SO:0001583	missense	128372	exon1			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.373G>T	1.37:g.158736100C>A	ENSP00000335535:p.Ala125Ser	Somatic		Capture	Illumina HiSeq	Phase_I	157002724	NM_001005185	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025959	0.75390	.	.	ENSG00000197403	ENST00000335094	T	0.01209	5.17	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000313	T	0.07773	0.0195	H	0.98111	4.15	0.37024	D	0.896377	D	0.89917	1.0	D	0.83275	0.996	T	0.04165	-1.0972	10	0.87932	D	0	-17.9047	12.7385	0.57238	0.0:0.9191:0.0:0.0809	.	125	Q8NGY5	OR6N1_HUMAN	S	125	ENSP00000335535:A125S	ENSP00000335535:A125S	A	-	1	0	OR6N1	157002724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.512000	0.60469	1.356000	0.45884	0.655000	0.94253	GCC		0.527	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
MNDA	4332	broad.mit.edu	37	1	158811968	158811968	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:158811968C>A	ENST00000368141.4	+	2	286	c.25C>A	c.(25-27)Ctt>Att	p.L9I	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	9	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L9I(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGAAAATTCTTTTGCTGAA	0.308																																					p.L9I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C25A	1						.						60.0	61.0	61.0					1																	158811968		2203	4300	6503	157078592	SO:0001583	missense	4332	exon2			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.25C>A	1.37:g.158811968C>A	ENSP00000357123:p.Leu9Ile	Somatic		Capture	Illumina HiSeq	Phase_I	157078592	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	4.757	0.140750	0.09083	.	.	ENSG00000163563	ENST00000368141	T	0.51574	0.7	2.95	-4.8	0.03190	Pyrin (2);	.	.	.	.	T	0.05502	0.0145	N	0.01705	-0.755	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.33979	-0.9847	9	0.34782	T	0.22	-0.5595	5.4932	0.16787	0.3186:0.4517:0.2297:0.0	.	9	P41218	MNDA_HUMAN	I	9	ENSP00000357123:L9I	ENSP00000357123:L9I	L	+	1	0	MNDA	157078592	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.541000	0.02198	-1.181000	0.02730	-1.237000	0.01550	CTT		0.308	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
CADM3	57863	broad.mit.edu	37	1	159163232	159163232	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:159163232C>A	ENST00000368125.4	+	4	559	c.402C>A	c.(400-402)atC>atA	p.I134I	CADM3_ENST00000368124.4_Silent_p.I168I|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	134	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I168I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGAAGCCCATCATCACTGGTT	0.537																																					p.I168I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504A	1						.						103.0	107.0	106.0					1																	159163232		2203	4300	6503	157429856	SO:0001819	synonymous_variant	57863	exon5			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.402C>A	1.37:g.159163232C>A		Somatic		Capture	Illumina HiSeq	Phase_I	157429856	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																				0.537	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
APCS	325	broad.mit.edu	37	1	159558138	159558138	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:159558138C>T	ENST00000255040.2	+	2	409	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	104	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.I104I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAAAGTTATCGAAAAGTTCC	0.423																																					p.I104I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	1						.						88.0	88.0	88.0					1																	159558138		2203	4300	6503	157824762	SO:0001819	synonymous_variant	325	exon2				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.312C>T	1.37:g.159558138C>T		Somatic		Capture	Illumina HiSeq	Phase_I	157824762	NM_001639		Silent	SNP	ENST00000255040.2	37	CCDS1186.1																																																																																				0.423	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639	
SLAMF8	56833	broad.mit.edu	37	1	159799790	159799790	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:159799790C>T	ENST00000289707.5	+	2	324	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	59					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L59F(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TTCAGAAGAGCTCCTGGCCAC	0.642																																					p.L59F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C175T	1						.						124.0	132.0	129.0					1																	159799790		2203	4300	6503	158066414	SO:0001583	missense	56833	exon2			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.175C>T	1.37:g.159799790C>T	ENSP00000289707:p.Leu59Phe	Somatic		Capture	Illumina HiSeq	Phase_I	158066414	NM_020125	Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244514	0.39697	.	.	ENSG00000158714	ENST00000289707	T	0.26660	1.72	4.44	3.51	0.40186	.	0.289302	0.32608	N	0.005862	T	0.17577	0.0422	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.04128	-1.0975	10	0.10111	T	0.7	-14.6997	9.5284	0.39178	0.21:0.79:0.0:0.0	.	59	Q9P0V8	SLAF8_HUMAN	F	59	ENSP00000289707:L59F	ENSP00000289707:L59F	L	+	1	0	SLAMF8	158066414	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	3.622000	0.54217	1.055000	0.40461	0.313000	0.20887	CTC		0.642	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125	
CASQ1	844	broad.mit.edu	37	1	160171124	160171124	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:160171124C>T	ENST00000368078.3	+	11	1345	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	CASQ1_ENST00000467691.1_Silent_p.G104G|RP11-536C5.7_ENST00000418602.1_RNA|CASQ1_ENST00000368079.3_Silent_p.G377G			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	383	Asp-rich.				endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.G377G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTGGAGGGCGAGATCAACA	0.542																																					p.G383G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1149T	1						.						223.0	163.0	184.0					1																	160171124		2203	4300	6503	158437748	SO:0001819	synonymous_variant	844	exon11			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.1149C>T	1.37:g.160171124C>T		Somatic		Capture	Illumina HiSeq	Phase_I	158437748	NM_001231	B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	CCDS1198.2																																																																																				0.542	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	
DCAF8	50717	broad.mit.edu	37	1	160192492	160192492	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:160192492C>A	ENST00000368073.3	-	11	1823	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	DCAF8_ENST00000608310.1_Missense_Mutation_p.E617D|DCAF8_ENST00000368074.1_Missense_Mutation_p.E463D|DCAF8_ENST00000556710.1_Missense_Mutation_p.E617D|DCAF8_ENST00000326837.2_Missense_Mutation_p.E463D			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	463					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E463D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AGGATGATTTCTCCCAGAGGA	0.498																																					p.E463D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1389T	1						.						121.0	109.0	113.0					1																	160192492		2203	4300	6503	158459116	SO:0001583	missense	50717	exon11			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1389G>T	1.37:g.160192492C>A	ENSP00000357052:p.Glu463Asp	Somatic		Capture	Illumina HiSeq	Phase_I	158459116	NM_015726	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058097	0.36277	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.077986	0.50627	U	0.000112	T	0.36082	0.0954	N	0.11064	0.09	0.35213	D	0.775365	B;B	0.11235	0.003;0.004	B;B	0.10450	0.005;0.004	T	0.16217	-1.0410	10	0.07175	T	0.84	-12.104	15.4865	0.75571	0.0:1.0:0.0:0.0	.	617;463	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	D	463;463;463;617;444;617	ENSP00000357052:E463D;ENSP00000318227:E463D;ENSP00000357053:E463D;ENSP00000451989:E617D;ENSP00000451235:E617D	ENSP00000318227:E463D	E	-	3	2	RP11-574F21.3;DCAF8	158459116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.741000	0.38238	2.636000	0.89361	0.650000	0.86243	GAG		0.498	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726	
RSC1A1	6248	broad.mit.edu	37	1	15986666	15986666	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:15986666C>T	ENST00000345034.1	+	1	303	c.303C>T	c.(301-303)tcC>tcT	p.S101S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	101					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.S101S(2)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAATTCATCCGAAGAAATAA	0.428																																					p.S101S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C303T	1						.						100.0	100.0	100.0					1																	15986666		2203	4300	6503	15859253	SO:0001819	synonymous_variant	6248	exon1			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.303C>T	1.37:g.15986666C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15859253	NM_006511	B2RBP5	Silent	SNP	ENST00000345034.1	37	CCDS161.1																																																																																				0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511	
DCAF8	50717	broad.mit.edu	37	1	160210097	160210097	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:160210097C>T	ENST00000368073.3	-	4	547	c.113G>A	c.(112-114)gGc>gAc	p.G38D	DCAF8_ENST00000608310.1_Missense_Mutation_p.G192D|DCAF8_ENST00000368074.1_Missense_Mutation_p.G38D|DCAF8_ENST00000610139.1_Missense_Mutation_p.G38D|DCAF8_ENST00000475733.1_Missense_Mutation_p.G38D|DCAF8_ENST00000556710.1_Missense_Mutation_p.G192D|DCAF8_ENST00000326837.2_Missense_Mutation_p.G38D			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	38					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G38D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CACTTCAATGCCTGAGGATGT	0.557																																					p.G38D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113A	1						.						77.0	62.0	67.0					1																	160210097		2203	4300	6503	158476721	SO:0001583	missense	50717	exon4			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.113G>A	1.37:g.160210097C>T	ENSP00000357052:p.Gly38Asp	Somatic		Capture	Illumina HiSeq	Phase_I	158476721	NM_015726	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215491	0.58452	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000419626;ENST00000556710;ENST00000485079	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.06;-0.06;2.37	5.21	5.21	0.72293	.	0.290048	0.27096	U	0.020948	T	0.32315	0.0825	N	0.03324	-0.35	0.41198	D	0.986356	D;B;B	0.60160	0.987;0.002;0.0	P;B;B	0.53689	0.732;0.007;0.001	T	0.42207	-0.9465	10	0.02654	T	1	-11.057	17.5634	0.87913	0.0:1.0:0.0:0.0	.	192;38;38	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	D	38;38;38;192;38;38;38;38;38;192;250	ENSP00000357052:G38D;ENSP00000318227:G38D;ENSP00000357053:G38D;ENSP00000451989:G192D;ENSP00000451235:G192D;ENSP00000450870:G250D	ENSP00000318227:G38D	G	-	2	0	RP11-574F21.3;DCAF8	158476721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.158000	0.64917	2.431000	0.82371	0.650000	0.86243	GGC		0.557	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726	
CD84	8832	broad.mit.edu	37	1	160520745	160520745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:160520745C>A	ENST00000311224.4	-	6	958	c.892G>T	c.(892-894)Gaa>Taa	p.E298*	CD84_ENST00000368048.3_Nonsense_Mutation_p.E292*|CD84_ENST00000368051.3_Intron|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368054.3_Nonsense_Mutation_p.E281*|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Nonsense_Mutation_p.E167*	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	298					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E281*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGCAGGATTTCATCATAGATT	0.468																																					p.E167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G499T	1						.						257.0	247.0	251.0					1																	160520745		2203	4300	6503	158787369	SO:0001587	stop_gained	8832	exon4			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.892G>T	1.37:g.160520745C>A	ENSP00000312367:p.Glu298*	Somatic		Capture	Illumina HiSeq	Phase_I	158787369	NM_001184882	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Nonsense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048180	0.93740	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	.	.	.	4.02	4.02	0.46733	.	0.505613	0.18339	N	0.144253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-23.184	11.9544	0.52973	0.0:1.0:0.0:0.0	.	.	.	.	X	167;281;292;298	.	ENSP00000312367:E298X	E	-	1	0	CD84	158787369	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.011000	0.49567	2.509000	0.84616	0.650000	0.86243	GAA		0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
CD84	8832	broad.mit.edu	37	1	160535429	160535429	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:160535429G>T	ENST00000311224.4	-	2	219	c.153C>A	c.(151-153)atC>atA	p.I51I	CD84_ENST00000368048.3_Silent_p.I51I|CD84_ENST00000368051.3_Silent_p.I51I|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368054.3_Silent_p.I51I|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	51	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I51I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCCAAGCAATGATTTTAACTT	0.418																																					p.I51I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153A	1						.						110.0	106.0	107.0					1																	160535429		2203	4300	6503	158802053	SO:0001819	synonymous_variant	8832	exon2			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.153C>A	1.37:g.160535429G>T		Somatic		Capture	Illumina HiSeq	Phase_I	158802053	NM_001184881	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	CCDS53396.1																																																																																				0.418	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
PPOX	5498	broad.mit.edu	37	1	161138854	161138854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:161138854C>T	ENST00000367999.4	+	7	954	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R230C|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	230					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.R230C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGGTCACTTCGTGGAGGTCT	0.592																																					p.R230C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688T	1						.						69.0	69.0	69.0					1																	161138854		2203	4300	6503	159405478	SO:0001583	missense	5498	exon7			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.688C>T	1.37:g.161138854C>T	ENSP00000356978:p.Arg230Cys	Somatic		Capture	Illumina HiSeq	Phase_I	159405478	NM_000309	D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159982	0.78226	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92805	-3.11;-3.11	5.57	4.64	0.57946	Amine oxidase (1);	0.115400	0.56097	D	0.000037	D	0.94961	0.8370	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.75020	0.985;0.898;0.931	D	0.95642	0.8699	10	0.87932	D	0	-26.5587	14.5141	0.67807	0.1482:0.8518:0.0:0.0	.	197;68;230	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	C	230;230;197	ENSP00000343943:R230C;ENSP00000356978:R230C	ENSP00000343943:R230C	R	+	1	0	PPOX	159405478	0.996000	0.38824	0.999000	0.59377	0.845000	0.48019	3.193000	0.50997	1.295000	0.44724	0.655000	0.94253	CGT		0.592	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309	
APOA2	336	broad.mit.edu	37	1	161192240	161192240	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:161192240G>T	ENST00000367990.3	-	4	315	c.258C>A	c.(256-258)ttC>ttA	p.F86L	APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Missense_Mutation_p.F38L|APOA2_ENST00000463812.1_Missense_Mutation_p.F38L|APOA2_ENST00000470459.2_Missense_Mutation_p.F68L|AL590714.1_ENST00000594609.1_Nonsense_Mutation_p.E59*|APOA2_ENST00000464492.1_Missense_Mutation_p.F119L	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	86					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F86L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATAGCTCAAGAAGTTAACCA	0.502																																					p.F86L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C258A	1						.						214.0	192.0	200.0					1																	161192240		2203	4300	6503	159458864	SO:0001583	missense	336	exon4				CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.258C>A	1.37:g.161192240G>T	ENSP00000356969:p.Phe86Leu	Somatic		Capture	Illumina HiSeq	Phase_I	159458864	NM_001643	B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	CCDS1226.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473130	0.63737	.	.	ENSG00000158874	ENST00000367990	.	.	.	4.97	2.93	0.34026	.	0.251191	0.28504	N	0.015116	T	0.17789	0.0427	L	0.36672	1.1	0.32240	N	0.572908	B	0.18610	0.029	B	0.17722	0.019	T	0.07986	-1.0744	8	0.87932	D	0	-3.6218	5.4466	0.16539	0.1115:0.2076:0.6809:0.0	.	86	P02652	APOA2_HUMAN	L	86	.	ENSP00000356969:F86L	F	-	3	2	APOA2	159458864	0.932000	0.31603	0.287000	0.24848	0.018000	0.09664	0.896000	0.28377	1.311000	0.45024	-0.165000	0.13383	TTC		0.502	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643	
MPZ	4359	broad.mit.edu	37	1	161276676	161276676	+	Silent	SNP	G	G	A	rs121913584	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:161276676G>A	ENST00000533357.1	-	3	336	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MPZ_ENST00000360451.6_Silent_p.D100D|MPZ_ENST00000336559.4_Silent_p.D90D|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_De_novo_Start_OutOfFrame	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	90	Ig-like V-type.		D -> E (in CMT1B). {ECO:0000269|PubMed:7693129}.		cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D100D(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCCCACCTCGTCAATGTAGG	0.512																																					p.D90D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270T	1	GRCh37	CM930494	MPZ	M	rs121913584	.	G		4,4402	8.1+/-20.4	0,4,2199	152.0	132.0	138.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	270	-4.6	1.0	1	dbSNP_133	138	0,8600		0,0,4300	no	coding-synonymous	MPZ	NM_000530.6		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		90/249	161276676	4,13002	2203	4300	6503	159543300	SO:0001819	synonymous_variant	4359	exon3			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.270C>T	1.37:g.161276676G>A		Somatic		Capture	Illumina HiSeq	Phase_I	159543300	NM_000530	Q16072|Q5VTH4|Q92677|Q9BR67	Silent	SNP	ENST00000533357.1	37	CCDS1229.2																																																																																				0.512	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530	
HSPA6	3310	broad.mit.edu	37	1	161495318	161495318	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:161495318C>T	ENST00000309758.4	+	1	1283	c.870C>T	c.(868-870)ttC>ttT	p.F290F	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	290					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.F290F(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACTCCCTGTTCGAGGGCGTGG	0.652																																					p.F290F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870T	1						.						25.0	28.0	27.0					1																	161495318		2203	4300	6503	159761942	SO:0001819	synonymous_variant	3310	exon1				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.870C>T	1.37:g.161495318C>T		Somatic		Capture	Illumina HiSeq	Phase_I	159761942	NM_002155	Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	CCDS1231.1																																																																																				0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155	
SH2D1B	117157	broad.mit.edu	37	1	162381722	162381722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:162381722G>T	ENST00000367929.2	-	1	194	c.85C>A	c.(85-87)Ctt>Att	p.L29I	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.L29I	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	29	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)	p.L29I(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTCTTAAAAGAAAGTTGCCA	0.498																																					p.L29I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85A	1						.						157.0	132.0	140.0					1																	162381722		2203	4300	6503	160648346	SO:0001583	missense	117157	exon1			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.85C>A	1.37:g.162381722G>T	ENSP00000356906:p.Leu29Ile	Somatic		Capture	Illumina HiSeq	Phase_I	160648346	NM_053282	B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258070	0.80246	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	T;T	0.72051	-0.62;-0.62	5.36	4.44	0.53790	SH2 motif (5);	0.000000	0.64402	D	0.000019	T	0.79839	0.4515	M	0.85373	2.75	0.28294	N	0.923417	D;D	0.69078	0.996;0.997	D;D	0.87578	0.994;0.998	D	0.84005	0.0345	9	0.87932	D	0	-55.1245	10.1387	0.42723	0.0909:0.0:0.9091:0.0	.	29;29	O14796-2;O14796	.;SH21B_HUMAN	I	29	ENSP00000356906:L29I;ENSP00000352571:L29I	ENSP00000352571:L29I	L	-	1	0	SH2D1B	160648346	0.991000	0.36638	0.946000	0.38457	0.994000	0.84299	1.920000	0.40025	1.450000	0.47717	0.655000	0.94253	CTT		0.498	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282	
SPEN	23013	broad.mit.edu	37	1	16254645	16254645	+	Missense_Mutation	SNP	G	G	A	rs149954308	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:16254645G>A	ENST00000375759.3	+	11	2114	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	637	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R637Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAGTGTTCGAACTCCAGGC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		20474	0.0		0.002	False		,,,				2504	0.0				p.R637Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1910A	1						.						87.0	89.0	88.0					1																	16254645		2203	4300	6503	16127232	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1910G>A	1.37:g.16254645G>A	ENSP00000364912:p.Arg637Gln	Somatic		Capture	Illumina HiSeq	Phase_I	16127232	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	21.0	4.088451	0.76756	.	.	ENSG00000065526	ENST00000375759	T	0.13196	2.61	4.54	4.54	0.55810	.	.	.	.	.	T	0.28400	0.0702	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.02950	-1.1090	9	0.59425	D	0.04	-12.3588	17.8431	0.88720	0.0:0.0:1.0:0.0	.	637	Q96T58	MINT_HUMAN	Q	637	ENSP00000364912:R637Q	ENSP00000364912:R637Q	R	+	2	0	SPEN	16127232	0.999000	0.42202	0.975000	0.42487	0.910000	0.53928	9.146000	0.94640	2.514000	0.84764	0.563000	0.77884	CGA		0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
FBXO42	54455	broad.mit.edu	37	1	16577313	16577313	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:16577313G>T	ENST00000375592.3	-	10	2222	c.2006C>A	c.(2005-2007)tCt>tAt	p.S669Y		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	669								p.S669Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCAACCACAGAACTGCTATT	0.473																																					p.S669Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2006A	1						.						187.0	181.0	183.0					1																	16577313		2203	4300	6503	16449900	SO:0001583	missense	54455	exon10			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2006C>A	1.37:g.16577313G>T	ENSP00000364742:p.Ser669Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	16449900	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739374	0.69304	.	.	ENSG00000037637	ENST00000375592	T	0.04049	3.72	5.52	5.52	0.82312	.	0.056014	0.64402	D	0.000001	T	0.05686	0.0149	N	0.14661	0.345	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	T	0.42666	-0.9438	10	0.66056	D	0.02	-17.5331	18.7864	0.91957	0.0:0.0:1.0:0.0	.	669	Q6P3S6	FBX42_HUMAN	Y	669	ENSP00000364742:S669Y	ENSP00000364742:S669Y	S	-	2	0	FBXO42	16449900	1.000000	0.71417	0.989000	0.46669	0.875000	0.50365	7.527000	0.81931	2.767000	0.95098	0.655000	0.94253	TCT		0.473	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		
DDR2	4921	broad.mit.edu	37	1	162740275	162740275	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:162740275G>A	ENST00000367922.3	+	13	1915	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	DDR2_ENST00000367921.3_Missense_Mutation_p.E493K	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	493					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E493K(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	AAAACTCCCAGAATTTGCTCC	0.547																																					p.E493K	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477A	1						.						91.0	86.0	88.0					1																	162740275		2203	4300	6503	161006899	SO:0001583	missense	4921	exon13			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1477G>A	1.37:g.162740275G>A	ENSP00000356899:p.Glu493Lys	Somatic		Capture	Illumina HiSeq	Phase_I	161006899	NM_001014796	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.966472|5.966472	0.97156|0.97156	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105|ENST00000433757	D;D;T|.	0.83755|.	-1.76;-1.76;1.01|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.048162|.	0.85682|.	D|.	0.000000|.	T|T	0.70718|0.70718	0.3256|0.3256	M|M	0.71581|0.71581	2.175|2.175	.|.	.|.	.|.	B|.	0.31174|.	0.311|.	B|.	0.38378|.	0.272|.	T|T	0.68390|0.68390	-0.5421|-0.5421	9|4	0.22109|.	T|.	0.4|.	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493|.	Q16832|.	DDR2_HUMAN|.	K|K	493;493;103|85	ENSP00000356899:E493K;ENSP00000356898:E493K;ENSP00000417030:E103K|.	ENSP00000356898:E493K|.	E|R	+|+	1|2	0|0	DDR2|DDR2	161006899|161006899	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.968000|0.968000	0.65278|0.65278	9.338000|9.338000	0.96553|0.96553	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.547	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
POGK	57645	broad.mit.edu	37	1	166818510	166818510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:166818510C>T	ENST00000367875.1	+	5	1054	c.694C>T	c.(694-696)Cga>Tga	p.R232*	POGK_ENST00000537173.1_Nonsense_Mutation_p.R114*|POGK_ENST00000367876.4_Nonsense_Mutation_p.R232*|POGK_ENST00000536514.1_Nonsense_Mutation_p.R147*			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	232					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R232*(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AAAAAACGTTCGAGACTGGCG	0.547																																					p.R232X	GBM(76;192 1530 30153 48742)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C694T	1						.						45.0	48.0	47.0					1																	166818510		2203	4300	6503	165085134	SO:0001587	stop_gained	57645	exon5			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.694C>T	1.37:g.166818510C>T	ENSP00000356849:p.Arg232*	Somatic		Capture	Illumina HiSeq	Phase_I	165085134	NM_017542	Q5TIJ1|Q8TE07	Nonsense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989204	0.74589	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	.	.	.	5.13	2.21	0.28008	.	0.204155	0.24861	N	0.035020	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6764	6.5988	0.22689	0.4606:0.4569:0.0:0.0825	.	.	.	.	X	114;147;232;232	.	.	R	+	1	2	POGK	165085134	0.164000	0.22935	0.033000	0.17914	0.950000	0.60333	1.150000	0.31639	0.317000	0.23160	-0.181000	0.13052	CGA		0.547	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542	
DCAF6	55827	broad.mit.edu	37	1	167935897	167935897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:167935897G>T	ENST00000312263.6	+	3	394	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Nonsense_Mutation_p.E64*|DCAF6_ENST00000432587.2_Intron|DCAF6_ENST00000367843.3_Nonsense_Mutation_p.E64*	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	64					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E64*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGACACTGGAGAATATATTTT	0.299																																					p.E64X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G190T	1						.						94.0	100.0	98.0					1																	167935897		2203	4296	6499	166202521	SO:0001587	stop_gained	55827	exon3			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.190G>T	1.37:g.167935897G>T	ENSP00000311949:p.Glu64*	Somatic		Capture	Illumina HiSeq	Phase_I	166202521	NM_001198956	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Nonsense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	37	6.055938	0.97241	.	.	ENSG00000143164	ENST00000367843;ENST00000312263;ENST00000367840	.	.	.	5.4	5.4	0.78164	.	0.107089	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.1812	0.93623	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000311949:E64X	E	+	1	0	DCAF6	166202521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.740000	0.91579	2.550000	0.86006	0.544000	0.68410	GAA		0.299	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
NBPF1	55672	broad.mit.edu	37	1	16890565	16890565	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:16890565C>A	ENST00000430580.2	-	29	4180	c.3293G>T	c.(3292-3294)aGa>aTa	p.R1098I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1078	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAACACACTTCTGTAGTGCTG	0.453																																					p.E1100X												.	.	0			c.G3298T	1						.						679.0	588.0	619.0					1																	16890565		2203	4297	6500	16763152	SO:0001583	missense	55672	exon29			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3293G>T	1.37:g.16890565C>A	ENSP00000474456:p.Arg1098Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16763152	NM_017940	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																					0.453	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
TIPRL	261726	broad.mit.edu	37	1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	72					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.A72V(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413																																					p.A72V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	1						.						129.0	117.0	121.0					1																	168153250		2203	4300	6503	166419874	SO:0001583	missense	261726	exon2			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.215C>T	1.37:g.168153250C>T	ENSP00000356807:p.Ala72Val	Somatic		Capture	Illumina HiSeq	Phase_I	166419874	NM_001031800	B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052861	0.93793	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.92459	3.31	0.44207	D	0.997032	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87080	0.2165	8	0.54805	T	0.06	-24.9428	16.2331	0.82357	0.0:0.8666:0.1334:0.0	.	72;72	O75663;O75663-2	TIPRL_HUMAN;.	V	72	.	ENSP00000356804:A72V	A	+	2	0	TIPRL	166419874	1.000000	0.71417	0.873000	0.34254	0.964000	0.63967	7.380000	0.79704	1.369000	0.46134	0.655000	0.94253	GCG		0.413	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902	
NBPF1	55672	broad.mit.edu	37	1	16913718	16913718	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:16913718T>C	ENST00000430580.2	-	11	1492	c.605A>G	c.(604-606)gAc>gGc	p.D202G		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	202	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTCCAGTGAGTCCTCAGGGAC	0.502																																					p.D202G												.	.	0			c.A605G	1						.						99.0	93.0	95.0					1																	16913718		2150	4249	6399	16786305	SO:0001583	missense	55672	exon11			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.605A>G	1.37:g.16913718T>C	ENSP00000474456:p.Asp202Gly	Somatic		Capture	Illumina HiSeq	Phase_I	16786305	NM_017940	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																					0.502	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
CCDC181	57821	broad.mit.edu	37	1	169391068	169391068	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:169391068G>T	ENST00000367806.3	-	3	753	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	CCDC181_ENST00000367805.3_Missense_Mutation_p.L201I|CCDC181_ENST00000545005.1_Missense_Mutation_p.L201I|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	201						nucleus (GO:0005634)		p.L201I(1)									AGTGACAGGAGCACATCTTCT	0.333																																					p.L201I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C601A	1						.						88.0	90.0	89.0					1																	169391068		2203	4300	6503	167657692	SO:0001583	missense	57821	exon3			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.601C>A	1.37:g.169391068G>T	ENSP00000356780:p.Leu201Ile	Somatic		Capture	Illumina HiSeq	Phase_I	167657692	NM_021179	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.767809	0.00645	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.23950	1.89;1.89;1.89;1.88	5.31	1.15	0.20763	.	0.568676	0.18251	N	0.146938	T	0.04724	0.0128	L	0.41027	1.25	0.24293	N	0.995154	B;B;B	0.20052	0.005;0.041;0.041	B;B;B	0.19946	0.006;0.027;0.027	T	0.39272	-0.9622	9	0.15952	T	0.53	-0.0075	1.2848	0.02048	0.1791:0.1324:0.283:0.4056	.	201;201;201	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	201	ENSP00000356779:L201I;ENSP00000356780:L201I;ENSP00000442297:L201I;ENSP00000411000:L201I	ENSP00000356779:L201I	L	-	1	0	C1orf114	167657692	0.010000	0.17322	0.006000	0.13384	0.026000	0.11368	0.354000	0.20146	-0.039000	0.13602	-0.319000	0.08680	CTC		0.333	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179	
SELE	6401	broad.mit.edu	37	1	169701771	169701771	+	Missense_Mutation	SNP	C	C	T	rs138813218	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:169701771C>T	ENST00000333360.7	-	3	545	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.A136T|SELE_ENST00000367780.4_Missense_Mutation_p.A136T|SELE_ENST00000367775.1_Missense_Mutation_p.A136T|SELE_ENST00000367774.1_Missense_Mutation_p.A136T|SELE_ENST00000367779.4_Missense_Mutation_p.A136T|SELE_ENST00000367782.4_Missense_Mutation_p.A136T|SELE_ENST00000367777.1_Missense_Mutation_p.A136T|SELE_ENST00000367776.1_Missense_Mutation_p.A136T	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	136	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.A136T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TAGCATAGGGCAAGCTTCTTC	0.468																																					p.A136T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	1						.						83.0	67.0	72.0					1																	169701771		2203	4300	6503	167968395	SO:0001583	missense	6401	exon3			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.406G>A	1.37:g.169701771C>T	ENSP00000331736:p.Ala136Thr	Somatic		Capture	Illumina HiSeq	Phase_I	167968395	NM_000450	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834683	0.71373	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.76	5.76	0.90799	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.42682	D	0.000665	T	0.37732	0.1014	M	0.63843	1.955	0.49483	D	0.999791	D	0.89917	1.0	D	0.91635	0.999	T	0.02505	-1.1149	10	0.45353	T	0.12	-24.3404	18.5496	0.91058	0.0:1.0:0.0:0.0	.	136	P16581	LYAM2_HUMAN	T	136	ENSP00000356755:A136T;ENSP00000356756:A136T;ENSP00000356754:A136T;ENSP00000356753:A136T;ENSP00000331736:A136T;ENSP00000356751:A136T;ENSP00000356749:A136T;ENSP00000356750:A136T;ENSP00000356748:A136T	ENSP00000331736:A136T	A	-	1	0	SELE	167968395	1.000000	0.71417	0.498000	0.27564	0.571000	0.35966	4.553000	0.60753	2.706000	0.92434	0.655000	0.94253	GCC		0.468	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
C1orf112	55732	broad.mit.edu	37	1	169792608	169792608	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:169792608A>G	ENST00000286031.6	+	10	1543	c.843A>G	c.(841-843)atA>atG	p.I281M	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.I281M|C1orf112_ENST00000413811.2_Missense_Mutation_p.I252M|C1orf112_ENST00000456684.1_Missense_Mutation_p.I339M	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	281								p.I281M(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCTTCAGATACACAGGTAAG	0.323																																					p.I281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A843G	1						.						125.0	125.0	125.0					1																	169792608		2203	4297	6500	168059232	SO:0001583	missense	55732	exon10			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.843A>G	1.37:g.169792608A>G	ENSP00000286031:p.Ile281Met	Somatic		Capture	Illumina HiSeq	Phase_I	168059232	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269359	0.59540	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.57	3.24	0.37175	.	0.082469	0.85682	D	0.000000	T	0.49321	0.1550	M	0.66506	2.035	0.39939	D	0.974381	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.988	T	0.50021	-0.8876	10	0.42905	T	0.14	-15.368	7.2375	0.26077	0.7057:0.1505:0.0:0.1438	.	252;281	B4E0A9;Q9NSG2	.;CA112_HUMAN	M	252;281;339;281	ENSP00000389257:I252M;ENSP00000352276:I281M;ENSP00000415583:I339M;ENSP00000286031:I281M	ENSP00000286031:I281M	I	+	3	3	C1orf112	168059232	0.946000	0.32159	0.986000	0.45419	0.980000	0.70556	0.917000	0.28665	0.396000	0.25283	0.533000	0.62120	ATA		0.323	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
GORAB	92344	broad.mit.edu	37	1	170508385	170508385	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:170508385G>T	ENST00000367763.3	+	2	191	c.171G>T	c.(169-171)aaG>aaT	p.K57N	GORAB_ENST00000367762.1_Missense_Mutation_p.K57N|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	57						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.K57N(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCCCGCGAAGAAAAGTCGAC	0.423																																					p.K57N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	1						.						77.0	75.0	75.0					1																	170508385		2203	4300	6503	168775009	SO:0001583	missense	92344	exon2			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.171G>T	1.37:g.170508385G>T	ENSP00000356737:p.Lys57Asn	Somatic		Capture	Illumina HiSeq	Phase_I	168775009	NM_001146039	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208695	0.09757	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.64803	-0.12;-0.12	5.49	2.44	0.29823	.	0.434110	0.28371	N	0.015594	T	0.24236	0.0587	L	0.31926	0.97	0.30527	N	0.767801	B	0.06786	0.001	B	0.08055	0.003	T	0.09357	-1.0678	10	0.24483	T	0.36	0.6918	6.5717	0.22543	0.0801:0.3575:0.4647:0.0977	.	57	Q5T7V8	GORAB_HUMAN	N	57	ENSP00000356737:K57N;ENSP00000356736:K57N	ENSP00000356736:K57N	K	+	3	2	GORAB	168775009	0.977000	0.34250	0.995000	0.50966	0.722000	0.41435	0.056000	0.14256	0.617000	0.30160	0.650000	0.86243	AAG		0.423	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281	
FMO3	2328	broad.mit.edu	37	1	171085357	171085357	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:171085357C>A	ENST00000367755.4	+	8	1304	c.1193C>A	c.(1192-1194)aCt>aAt	p.T398N	FMO3_ENST00000542847.1_Missense_Mutation_p.T378N|FMO3_ENST00000392085.2_Missense_Mutation_p.T398N|FMO3_ENST00000538429.1_Missense_Mutation_p.T335N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	398					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGAACTTGTACTTTGCCTTCT	0.348																																					p.T398N												.	.	0			c.C1193A	1						.						140.0	142.0	141.0					1																	171085357		2202	4299	6501	169351981	SO:0001583	missense	2328	exon8			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1193C>A	1.37:g.171085357C>A	ENSP00000356729:p.Thr398Asn	None		Capture	Illumina HiSeq	Phase_I	169351981	NM_001002294	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019641	0.35606	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.71	3.79	0.43588	.	0.578466	0.19013	N	0.125022	T	0.25195	0.0612	L	0.49699	1.58	0.28992	N	0.887966	P;B;B	0.43094	0.799;0.014;0.01	B;B;B	0.39339	0.297;0.021;0.024	T	0.07083	-1.0791	10	0.41790	T	0.15	-3.9995	6.106	0.20073	0.283:0.626:0.0:0.0909	.	335;378;398	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	N	398;398;378;335	ENSP00000356729:T398N;ENSP00000375935:T398N;ENSP00000444073:T378N;ENSP00000439500:T335N	ENSP00000356729:T398N	T	+	2	0	FMO3	169351981	0.011000	0.17503	1.000000	0.80357	0.956000	0.61745	-0.030000	0.12308	1.159000	0.42565	0.644000	0.83932	ACT		0.348	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
PRRC2C	23215	broad.mit.edu	37	1	171556318	171556318	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:171556318T>C	ENST00000338920.4	+	31	8157	c.7920T>C	c.(7918-7920)atT>atC	p.I2640I	PRRC2C_ENST00000392078.3_Silent_p.I2642I|PRRC2C_ENST00000426496.2_Silent_p.I2575I|PRRC2C_ENST00000367742.3_Silent_p.I2642I	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2640					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.I2642I(1)									GAGGATTAATTCCTGCTGGAA	0.453																																					p.I2640I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T7920C	1						.						62.0	56.0	58.0					1																	171556318		2203	4300	6503	169822942	SO:0001819	synonymous_variant	23215	exon31			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7920T>C	1.37:g.171556318T>C		Somatic		Capture	Illumina HiSeq	Phase_I	169822942	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373144	0.24857	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.34	1.07	0.20283	.	.	.	.	.	T	0.36608	0.0973	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19614	-1.0300	4	.	.	.	.	5.9868	0.19438	0.1246:0.5763:0.0:0.2991	.	.	.	.	S	1123	.	.	F	+	2	0	PRRC2C	169822942	0.991000	0.36638	0.987000	0.45799	0.993000	0.82548	0.153000	0.16323	0.263000	0.21812	0.377000	0.23210	TTC		0.453	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
METTL13	51603	broad.mit.edu	37	1	171752958	171752958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:171752958G>A	ENST00000361735.3	+	2	498	c.232G>A	c.(232-234)Gac>Aac	p.D78N	METTL13_ENST00000458517.1_Missense_Mutation_p.D77N|METTL13_ENST00000362019.3_5'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.D78N	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	78							methyltransferase activity (GO:0008168)	p.D78N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGTGAACATCGACATCAGTGA	0.478																																					p.D78N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	1						.						181.0	165.0	171.0					1																	171752958		2203	4300	6503	170019581	SO:0001583	missense	51603	exon2			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.232G>A	1.37:g.171752958G>A	ENSP00000354920:p.Asp78Asn	Somatic		Capture	Illumina HiSeq	Phase_I	170019581	NM_001007239	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802121	0.90538	.	.	ENSG00000010165	ENST00000458517;ENST00000367737;ENST00000361735	T;D;T	0.81659	0.17;-1.52;0.17	5.02	5.02	0.67125	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.90665	0.7072	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.92656	0.6137	10	0.87932	D	0	-22.5851	17.9252	0.88982	0.0:0.0:1.0:0.0	.	77;78;78	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	N	77;78;78	ENSP00000401955:D77N;ENSP00000356711:D78N;ENSP00000354920:D78N	ENSP00000354920:D78N	D	+	1	0	METTL13	170019581	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	9.277000	0.95755	2.287000	0.76781	0.655000	0.94253	GAC		0.478	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955	
DNM3	26052	broad.mit.edu	37	1	172222758	172222758	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:172222758C>T	ENST00000355305.5	+	16	1892	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	DNM3_ENST00000367731.1_Missense_Mutation_p.R569W|DNM3_ENST00000520906.1_Missense_Mutation_p.R569W|DNM3_ENST00000358155.4_Missense_Mutation_p.R569W			Q9UQ16	DYN3_HUMAN	dynamin 3	579	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R569W(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTGAAAGTTCGGGATGTGGA	0.398																																					p.R569W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1705T	1						.						59.0	56.0	57.0					1																	172222758		1844	4116	5960	170489381	SO:0001583	missense	26052	exon15			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1735C>T	1.37:g.172222758C>T	ENSP00000347457:p.Arg579Trp	Somatic		Capture	Illumina HiSeq	Phase_I	170489381	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.314356	0.81358	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000520906	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.89601	3.045	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.996;0.986	D	0.90044	0.4144	10	0.54805	T	0.06	.	18.2597	0.90031	0.0:1.0:0.0:0.0	.	569;569;569	E5RHK8;Q9UQ16-2;Q9UQ16-3	.;.;.	W	579;569;579;569;569	ENSP00000350876:R569W;ENSP00000347457:R579W;ENSP00000356705:R569W;ENSP00000429701:R569W	ENSP00000347457:R579W	R	+	1	2	DNM3	170489381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.695000	0.37763	2.632000	0.89209	0.557000	0.71058	CGG		0.398	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
SUCO	51430	broad.mit.edu	37	1	172558187	172558187	+	Missense_Mutation	SNP	G	G	A	rs199510939		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:172558187G>A	ENST00000263688.3	+	18	2165	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	SUCO_ENST00000608151.1_Missense_Mutation_p.R801Q|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.R800Q	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	649					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.R801Q(1)|p.R649Q(1)									CAGCGCAGCCGAACTGCTTTG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		20402	0.0		0.001	False		,,,				2504	0.0				p.R649Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1946A	1						.						59.0	64.0	62.0					1																	172558187		2203	4298	6501	170824810	SO:0001583	missense	51430	exon18			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1946G>A	1.37:g.172558187G>A	ENSP00000263688:p.Arg649Gln	Somatic		Capture	Illumina HiSeq	Phase_I	170824810	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.77	2.337776	0.41398	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	4.73	4.73	0.59995	.	0.418744	0.25795	N	0.028241	T	0.11410	0.0278	L	0.56769	1.78	0.28275	N	0.924223	P;P;B	0.41784	0.643;0.762;0.414	B;B;B	0.27380	0.05;0.079;0.05	T	0.09729	-1.0661	9	0.22706	T	0.39	-10.3332	7.0382	0.25004	0.1831:0.0:0.8169:0.0	.	649;801;649	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	Q	801;649	.	ENSP00000263688:R649Q	R	+	2	0	C1orf9	170824810	1.000000	0.71417	0.983000	0.44433	0.773000	0.43773	1.765000	0.38481	2.448000	0.82819	0.563000	0.77884	CGA		0.388	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
TNFSF4	7292	broad.mit.edu	37	1	173155806	173155806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:173155806G>A	ENST00000281834.3	-	3	537	c.401C>T	c.(400-402)tCt>tTt	p.S134F	TNFSF4_ENST00000367718.1_Missense_Mutation_p.S84F|TNFSF4_ENST00000488053.1_5'Flank	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	134					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.S134F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GGAGTTGACAGACCTGACCTT	0.478																																					p.S134F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C401T	1						.						91.0	90.0	90.0					1																	173155806		2203	4300	6503	171422429	SO:0001583	missense	7292	exon3			D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.401C>T	1.37:g.173155806G>A	ENSP00000281834:p.Ser134Phe	Somatic		Capture	Illumina HiSeq	Phase_I	171422429	NM_003326	Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	G	6.637	0.485927	0.12641	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	.	.	.	5.91	-7.66	0.01277	Tumour necrosis factor (2);Tumour necrosis factor-like (1);	1.941480	0.01951	N	0.042606	T	0.07863	0.0197	L	0.31294	0.92	0.09310	N	1	B;B	0.14438	0.009;0.01	B;B	0.11329	0.006;0.006	T	0.10823	-1.0613	9	0.23302	T	0.38	3.6485	1.1472	0.01778	0.408:0.1112:0.147:0.3338	.	134;84	P23510;Q8IV74	TNFL4_HUMAN;.	F	84;134;84	.	ENSP00000281834:S134F	S	-	2	0	TNFSF4	171422429	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.491000	0.06474	-1.141000	0.02873	0.655000	0.94253	TCT		0.478	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1		
SLC9C2	284525	broad.mit.edu	37	1	173502920	173502920	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:173502920C>A	ENST00000367714.3	-	17	2413	c.1991G>T	c.(1990-1992)aGg>aTg	p.R664M	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	664	Ion transport-like. {ECO:0000250}.				sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R664M(1)									AAAATATTTCCTTTTCAAAAT	0.289																																					p.R664M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1991T	1						.						31.0	34.0	33.0					1																	173502920		2194	4276	6470	171769543	SO:0001583	missense	284525	exon17			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1991G>T	1.37:g.173502920C>A	ENSP00000356687:p.Arg664Met	Somatic		Capture	Illumina HiSeq	Phase_I	171769543	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382916	0.42207	.	.	ENSG00000162753	ENST00000367714	D	0.97455	-4.39	5.5	-0.886	0.10590	Ion transport (1);	0.283210	0.30547	N	0.009389	D	0.95978	0.8690	M	0.66439	2.03	0.24768	N	0.992887	D	0.76494	0.999	D	0.65323	0.934	D	0.92404	0.5932	10	0.87932	D	0	-5.2275	9.3431	0.38091	0.0:0.5013:0.0:0.4987	.	664	Q5TAH2	S9A11_HUMAN	M	664	ENSP00000356687:R664M	ENSP00000356687:R664M	R	-	2	0	SLC9A11	171769543	0.011000	0.17503	0.429000	0.26710	0.572000	0.35998	-0.321000	0.08018	-0.101000	0.12219	0.650000	0.86243	AGG		0.289	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
ZBTB37	84614	broad.mit.edu	37	1	173839883	173839883	+	Missense_Mutation	SNP	C	C	T	rs150134837		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:173839883C>T	ENST00000367701.5	+	2	711	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	ZBTB37_ENST00000367702.1_Missense_Mutation_p.R174W|ZBTB37_ENST00000432989.1_Missense_Mutation_p.R174W|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R174W|ZBTB37_ENST00000367704.1_Missense_Mutation_p.R174W|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	174					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.R174W(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AAAGGGAAACCGGCGAGGTCA	0.507																																					p.R174W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520T	1						.	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	58.0	57.0		520,520	0.5	0.7	1	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	ZBTB37	NM_001122770.1,NM_032522.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	174/504,174/362	173839883	1,13005	2203	4300	6503	172106506	SO:0001583	missense	84614	exon3			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.520C>T	1.37:g.173839883C>T	ENSP00000356674:p.Arg174Trp	Somatic		Capture	Illumina HiSeq	Phase_I	172106506	NM_001122770	Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745031	0.30865	2.27E-4	0.0	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.76060	-0.97;2.6;-0.99;-0.99;2.6	5.9	0.465	0.16711	.	0.604283	0.17427	N	0.174613	T	0.37210	0.0995	N	0.24115	0.695	0.36932	D	0.891962	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.0	T	0.08576	-1.0715	10	0.56958	D	0.05	.	5.4772	0.16702	0.1229:0.5253:0.0:0.3519	.	174;174	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	W	174;174;174;174;82;174	ENSP00000356677:R174W;ENSP00000415293:R174W;ENSP00000409408:R174W;ENSP00000356675:R174W;ENSP00000356674:R174W	ENSP00000356674:R174W	R	+	1	2	ZBTB37	172106506	0.264000	0.24093	0.702000	0.30337	0.964000	0.63967	0.162000	0.16501	-0.149000	0.11215	-0.251000	0.11542	CGG		0.507	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522	
RC3H1	149041	broad.mit.edu	37	1	173916684	173916684	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:173916684C>T	ENST00000367696.2	-	15	2911	c.2560G>A	c.(2560-2562)Gat>Aat	p.D854N	RC3H1_ENST00000258349.4_Missense_Mutation_p.D854N|RC3H1_ENST00000367694.2_Missense_Mutation_p.D854N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	854					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D854N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTCTGAAGATCTAATCGCTGG	0.438																																					p.D854N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2560A	1						.						138.0	138.0	138.0					1																	173916684		2203	4300	6503	172183307	SO:0001583	missense	149041	exon14			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2560G>A	1.37:g.173916684C>T	ENSP00000356669:p.Asp854Asn	Somatic		Capture	Illumina HiSeq	Phase_I	172183307	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561404	0.86335	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.52295	0.67;0.67;0.67	5.93	5.93	0.95920	.	0.186833	0.56097	D	0.000029	T	0.33469	0.0864	L	0.43152	1.355	0.58432	D	0.999992	B;B;B;B	0.34329	0.321;0.321;0.449;0.115	B;B;B;B	0.31614	0.063;0.063;0.133;0.063	T	0.30268	-0.9984	10	0.72032	D	0.01	-17.1712	20.3495	0.98807	0.0:1.0:0.0:0.0	.	854;854;854;854	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	N	854	ENSP00000356669:D854N;ENSP00000258349:D854N;ENSP00000356667:D854N	ENSP00000258349:D854N	D	-	1	0	RC3H1	172183307	1.000000	0.71417	0.960000	0.40013	0.918000	0.54935	7.487000	0.81328	2.814000	0.96858	0.591000	0.81541	GAT		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
MRPS14	63931	broad.mit.edu	37	1	174987642	174987642	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:174987642T>G	ENST00000476371.1	-	2	132	c.116A>C	c.(115-117)aAg>aCg	p.K39T		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.K39T(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TTTTCGTCTCTTCACATCGCG	0.423																																					p.K39T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A116C	1						.						180.0	157.0	165.0					1																	174987642		2203	4300	6503	173254265	SO:0001583	missense	63931	exon2			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.116A>C	1.37:g.174987642T>G	ENSP00000420714:p.Lys39Thr	Somatic		Capture	Illumina HiSeq	Phase_I	173254265	NM_022100		Missense_Mutation	SNP	ENST00000476371.1	37	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.343740	0.82022	.	.	ENSG00000120333	ENST00000476371	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83964	0.0323	9	0.87932	D	0	-23.1558	15.9132	0.79488	0.0:0.0:0.0:1.0	.	39	O60783	RT14_HUMAN	T	39	.	ENSP00000420714:K39T	K	-	2	0	MRPS14	173254265	1.000000	0.71417	0.999000	0.59377	0.462000	0.32619	7.811000	0.86092	2.148000	0.66965	0.533000	0.62120	AAG		0.423	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100	
TNN	63923	broad.mit.edu	37	1	175046609	175046609	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:175046609C>T	ENST00000239462.4	+	2	168	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	19					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.L19F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGCTCTGTGCTCCTGGTGGC	0.587																																					p.L19F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55T	1						.						53.0	54.0	53.0					1																	175046609		2202	4300	6502	173313232	SO:0001583	missense	63923	exon2			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.55C>T	1.37:g.175046609C>T	ENSP00000239462:p.Leu19Phe	Somatic		Capture	Illumina HiSeq	Phase_I	173313232	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908349	0.52333	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.29655	1.56	5.51	4.61	0.57282	.	0.678397	0.14210	N	0.334154	T	0.40145	0.1105	L	0.50333	1.59	0.24891	N	0.992165	B;D	0.60160	0.015;0.987	B;P	0.53912	0.018;0.737	T	0.16158	-1.0412	10	0.36615	T	0.2	.	11.3319	0.49482	0.0:0.9158:0.0:0.0842	.	19;19	B3KXB6;Q9UQP3	.;TENN_HUMAN	F	19	ENSP00000239462:L19F	ENSP00000239462:L19F	L	+	1	0	TNN	173313232	0.933000	0.31639	0.994000	0.49952	0.184000	0.23303	0.825000	0.27393	1.344000	0.45657	0.655000	0.94253	CTC		0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNR	7143	broad.mit.edu	37	1	175324653	175324653	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:175324653C>T	ENST00000367674.2	-	17	3943	c.3235G>A	c.(3235-3237)Gat>Aat	p.D1079N	TNR_ENST00000263525.2_Missense_Mutation_p.D1079N			Q92752	TENR_HUMAN	tenascin R	1079	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.D1079N(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGGCTTCCATCGGTGGATTTG	0.493																																					p.D1079N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3235A	1						.						82.0	82.0	82.0					1																	175324653		2203	4300	6503	173591276	SO:0001583	missense	7143	exon17			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3235G>A	1.37:g.175324653C>T	ENSP00000356646:p.Asp1079Asn	Somatic		Capture	Illumina HiSeq	Phase_I	173591276	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971982	0.53614	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56103	0.48;0.48	5.07	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.48260	1.515	0.54753	D	0.999986	P	0.46859	0.885	B	0.39971	0.315	T	0.31475	-0.9942	10	0.26408	T	0.33	.	11.8966	0.52659	0.0:0.9186:0.0:0.0814	.	1079	Q92752	TENR_HUMAN	N	1079;1079;989	ENSP00000356646:D1079N;ENSP00000263525:D1079N	ENSP00000263525:D1079N	D	-	1	0	TNR	173591276	1.000000	0.71417	0.819000	0.32651	0.197000	0.23852	4.525000	0.60559	2.495000	0.84180	0.555000	0.69702	GAT		0.493	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu	37	1	175332882	175332882	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:175332882G>T	ENST00000367674.2	-	13	3377	c.2669C>A	c.(2668-2670)tCt>tAt	p.S890Y	TNR_ENST00000263525.2_Missense_Mutation_p.S890Y			Q92752	TENR_HUMAN	tenascin R	890	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S890Y(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTAATCGAAAGATGCAACAGG	0.433																																					p.S890Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2669A	1						.						190.0	168.0	175.0					1																	175332882		2203	4300	6503	173599505	SO:0001583	missense	7143	exon13			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2669C>A	1.37:g.175332882G>T	ENSP00000356646:p.Ser890Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	173599505	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225683	0.79576	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58060	0.36;0.36	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.438816	0.24833	N	0.035230	T	0.65302	0.2678	M	0.64170	1.965	0.33336	D	0.569273	P	0.43788	0.817	P	0.53360	0.724	T	0.75130	-0.3426	10	0.62326	D	0.03	.	16.9499	0.86242	0.0:0.0:1.0:0.0	.	890	Q92752	TENR_HUMAN	Y	890;890;800	ENSP00000356646:S890Y;ENSP00000263525:S890Y	ENSP00000263525:S890Y	S	-	2	0	TNR	173599505	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	6.750000	0.74888	2.595000	0.87683	0.655000	0.94253	TCT		0.433	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PADI1	29943	broad.mit.edu	37	1	17552315	17552315	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:17552315C>T	ENST00000375471.4	+	5	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	140					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R140C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAAAACCTGGCGCTGGGGCCC	0.587																																					p.R140C	Esophageal Squamous(80;414 1257 4580 27746 50832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C418T	1						.						65.0	71.0	69.0					1																	17552315		2203	4300	6503	17424902	SO:0001583	missense	29943	exon5			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.418C>T	1.37:g.17552315C>T	ENSP00000364620:p.Arg140Cys	Somatic		Capture	Illumina HiSeq	Phase_I	17424902	NM_013358	A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451222	0.63290	.	.	ENSG00000142623	ENST00000375471	T	0.14516	2.5	4.91	1.64	0.23874	Protein-arginine deiminase (PAD), central domain (2);	0.285341	0.32357	N	0.006207	T	0.25531	0.0621	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.01879	-1.1255	10	0.72032	D	0.01	-29.6402	6.7842	0.23664	0.3279:0.5758:0.0:0.0963	.	140	Q9ULC6	PADI1_HUMAN	C	140	ENSP00000364620:R140C	ENSP00000364620:R140C	R	+	1	0	PADI1	17424902	0.278000	0.24230	1.000000	0.80357	0.672000	0.39443	0.562000	0.23531	1.063000	0.40649	0.305000	0.20034	CGC		0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	
TNR	7143	broad.mit.edu	37	1	175336357	175336357	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:175336357C>A	ENST00000367674.2	-	10	2748	c.2040G>T	c.(2038-2040)atG>atT	p.M680I	TNR_ENST00000263525.2_Missense_Mutation_p.M680I			Q92752	TENR_HUMAN	tenascin R	680	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.M680I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTGGCATTCATGGTGGCTG	0.493																																					p.M680I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2040T	1						.						141.0	122.0	128.0					1																	175336357		2203	4300	6503	173602980	SO:0001583	missense	7143	exon10			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2040G>T	1.37:g.175336357C>A	ENSP00000356646:p.Met680Ile	Somatic		Capture	Illumina HiSeq	Phase_I	173602980	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838651	0.71373	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.49432	0.78;0.78	5.67	5.67	0.87782	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.28694	0.88	0.80722	D	1	D	0.60160	0.987	D	0.69307	0.963	T	0.38265	-0.9669	10	0.08179	T	0.78	.	18.5445	0.91042	0.0:1.0:0.0:0.0	.	680	Q92752	TENR_HUMAN	I	680	ENSP00000356646:M680I;ENSP00000263525:M680I	ENSP00000263525:M680I	M	-	3	0	TNR	173602980	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.225000	0.65294	2.677000	0.91161	0.655000	0.94253	ATG		0.493	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PAPPA2	60676	broad.mit.edu	37	1	176734831	176734831	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:176734831A>G	ENST00000367662.3	+	15	5345	c.4181A>G	c.(4180-4182)gAc>gGc	p.D1394G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1394	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1394G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGAAGCAGGACAGCTGTCCG	0.488																																					p.D1394G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4181G	1						.						182.0	173.0	176.0					1																	176734831		2048	4212	6260	175001454	SO:0001583	missense	60676	exon15			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4181A>G	1.37:g.176734831A>G	ENSP00000356634:p.Asp1394Gly	Somatic		Capture	Illumina HiSeq	Phase_I	175001454	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	5.853	0.341572	0.11069	.	.	ENSG00000116183	ENST00000367662	T	0.01613	4.73	5.37	-1.14	0.09741	.	0.728450	0.13875	N	0.356774	T	0.00845	0.0028	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48559	-0.9025	10	0.07990	T	0.79	-2.1453	1.4639	0.02402	0.3103:0.1335:0.4189:0.1372	.	1394	Q9BXP8	PAPP2_HUMAN	G	1394	ENSP00000356634:D1394G	ENSP00000356634:D1394G	D	+	2	0	PAPPA2	175001454	0.152000	0.22762	0.984000	0.44739	0.680000	0.39746	0.282000	0.18829	-0.248000	0.09583	-1.074000	0.02243	GAC		0.488	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:176993856C>T	ENST00000367654.3	-	6	1344	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R378Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R378Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R378Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	378					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R378Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGACTTCGGGGAGAACC	0.493																																					p.R378Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1133A	1						.						119.0	97.0	105.0					1																	176993856		2203	4300	6503	175260479	SO:0001583	missense	460	exon6			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1133G>A	1.37:g.176993856C>T	ENSP00000356626:p.Arg378Gln	Somatic		Capture	Illumina HiSeq	Phase_I	175260479	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.724875	0.89298	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.86;2.87;2.45	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	L	0.27053	0.805	0.54753	D	0.999981	B;B;B	0.34181	0.44;0.086;0.086	B;B;B	0.21917	0.037;0.021;0.021	T	0.04961	-1.0915	10	0.46703	T	0.11	-11.5484	18.4988	0.90874	0.0:1.0:0.0:0.0	.	378;378;378	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	Q	378	ENSP00000356629:R378Q;ENSP00000354536:R378Q;ENSP00000356626:R378Q;ENSP00000395041:R378Q	ENSP00000354536:R378Q	R	-	2	0	ASTN1	175260479	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	4.502000	0.60400	2.457000	0.83068	0.655000	0.94253	CGA		0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
TEX35	84066	broad.mit.edu	37	1	178489560	178489560	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:178489560G>T	ENST00000319416.2	+	6	442	c.330G>T	c.(328-330)aaG>aaT	p.K110N	TEX35_ENST00000367643.3_Missense_Mutation_p.K110N|TEX35_ENST00000367641.3_Missense_Mutation_p.K110N|TEX35_ENST00000367639.1_Missense_Mutation_p.K118N|TEX35_ENST00000258298.2_Missense_Mutation_p.K34N|TEX35_ENST00000367642.3_Intron	NM_032126.4	NP_115502.2			testis expressed 35									p.K110N(1)									ATACACAGAAGAACTATAAGC	0.428																																					p.K110N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G330T	1						.						135.0	138.0	137.0					1																	178489560		2203	4300	6503	176756183	SO:0001583	missense	84066	exon6			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.330G>T	1.37:g.178489560G>T	ENSP00000323795:p.Lys110Asn	Somatic		Capture	Illumina HiSeq	Phase_I	176756183	NM_001170723		Missense_Mutation	SNP	ENST00000319416.2	37	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776244	0.31411	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.51	0.968	0.19680	.	0.153798	0.30547	N	0.009393	T	0.28366	0.0701	L	0.48642	1.525	0.27915	N	0.938481	D;D;D	0.65815	0.99;0.99;0.995	P;P;P	0.61003	0.744;0.744;0.882	T	0.04737	-1.0930	10	0.87932	D	0	-14.027	5.5773	0.17231	0.4147:0.0:0.5853:0.0	.	118;110;110	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	N	110;34;110;110;118	ENSP00000323795:K110N;ENSP00000258298:K34N;ENSP00000356615:K110N;ENSP00000356613:K110N;ENSP00000356611:K118N	ENSP00000258298:K34N	K	+	3	2	C1orf49	176756183	1.000000	0.71417	0.924000	0.36721	0.051000	0.14879	1.816000	0.38992	0.451000	0.26802	0.536000	0.68110	AAG		0.428	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126	
RALGPS2	55103	broad.mit.edu	37	1	178802616	178802616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:178802616G>T	ENST00000367635.3	+	8	876	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	RALGPS2_ENST00000367634.2_Nonsense_Mutation_p.E180*	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	180	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E180*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATGAGTAAAGAAGATAACTA	0.289																																					p.E180X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G538T	1						.						110.0	109.0	109.0					1																	178802616		2203	4289	6492	177069239	SO:0001587	stop_gained	55103	exon8			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.538G>T	1.37:g.178802616G>T	ENSP00000356607:p.Glu180*	Somatic		Capture	Illumina HiSeq	Phase_I	177069239	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Nonsense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	38	7.074586	0.98044	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.8651	0.96802	0.0:0.0:1.0:0.0	.	.	.	.	X	180;180;145	.	ENSP00000313613:E145X	E	+	1	0	RALGPS2	177069239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.329000	0.96413	2.790000	0.95986	0.650000	0.86243	GAA		0.289	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	
ANGPTL1	9068	broad.mit.edu	37	1	178834771	178834771	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:178834771C>A	ENST00000234816.2	-	3	588	c.141G>T	c.(139-141)aaG>aaT	p.K47N	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.K47N|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	47					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.K47N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						ATGCACATTTCTTTGCTTCCT	0.413																																					p.K47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G141T	1						.						217.0	165.0	182.0					1																	178834771		2203	4300	6503	177101394	SO:0001583	missense	9068	exon3			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.141G>T	1.37:g.178834771C>A	ENSP00000234816:p.Lys47Asn	Somatic		Capture	Illumina HiSeq	Phase_I	177101394	NM_004673	Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879198	0.33162	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000444255	T;T	0.55234	0.53;0.53	5.76	5.76	0.90799	.	0.140368	0.64402	D	0.000005	T	0.46619	0.1402	L	0.46157	1.445	0.80722	D	1	B	0.27380	0.177	B	0.32677	0.15	T	0.38650	-0.9651	10	0.33141	T	0.24	.	10.1473	0.42771	0.0:0.8511:0.0:0.1489	.	47	O95841	ANGL1_HUMAN	N	47	ENSP00000234816:K47N;ENSP00000356601:K47N	ENSP00000234816:K47N	K	-	3	2	ANGPTL1	177101394	0.997000	0.39634	0.998000	0.56505	0.926000	0.56050	0.733000	0.26087	2.732000	0.93576	0.555000	0.69702	AAG		0.413	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673	
XPR1	9213	broad.mit.edu	37	1	180772712	180772712	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:180772712T>C	ENST00000367590.4	+	4	610	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	XPR1_ENST00000367589.3_Missense_Mutation_p.F138L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	138	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.F138L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CTTCAGTGAGTTCTACCTCAG	0.408																																					p.F138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T412C	1						.						115.0	120.0	118.0					1																	180772712		2203	4300	6503	179039335	SO:0001583	missense	9213	exon4			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.412T>C	1.37:g.180772712T>C	ENSP00000356562:p.Phe138Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179039335	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906808	0.72868	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.46451	0.87	5.93	5.93	0.95920	SPX, N-terminal (2);	0.047463	0.85682	D	0.000000	T	0.42404	0.1201	L	0.37466	1.105	0.80722	D	1	B;P	0.43314	0.178;0.803	B;P	0.47827	0.17;0.558	T	0.38672	-0.9650	10	0.66056	D	0.02	-11.9715	11.4204	0.49978	0.0:0.0716:0.0:0.9284	.	138;138	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	L	138	ENSP00000356562:F138L	ENSP00000356561:F138L	F	+	1	0	XPR1	179039335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.854000	0.69503	2.270000	0.75569	0.482000	0.46254	TTC		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
MR1	3140	broad.mit.edu	37	1	181018257	181018257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:181018257C>T	ENST00000367580.5	+	2	142	c.137C>T	c.(136-138)tCg>tTg	p.S46L	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.S46L|MR1_ENST00000367579.3_Missense_Mutation_p.S46L|MR1_ENST00000282990.6_Missense_Mutation_p.S46L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	46	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.S46L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GAATTTATTTCGGTTGGGTAC	0.547																																					p.S46L	Colon(174;1412 1962 45296 46549 47110)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137T	1						.						55.0	56.0	55.0					1																	181018257		2203	4300	6503	179284880	SO:0001583	missense	3140	exon3			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.137C>T	1.37:g.181018257C>T	ENSP00000356552:p.Ser46Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179284880	NM_001531	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024082	0.54683	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.89050	9.49;9.49;9.49;-2.46	4.29	3.35	0.38373	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.950609	0.08691	N	0.907969	D	0.94000	0.8078	M	0.78049	2.395	0.38691	D	0.952758	D;D;D;D;D	0.89917	0.998;0.996;1.0;1.0;0.991	D;P;D;D;P	0.87578	0.992;0.502;0.996;0.998;0.502	D	0.90748	0.4655	9	0.87932	D	0	.	10.121	0.42621	0.0:0.7964:0.2036:0.0	.	46;46;46;46;46	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	L	46	ENSP00000388504:S46L;ENSP00000356552:S46L;ENSP00000282990:S46L;ENSP00000356551:S46L	ENSP00000282990:S46L	S	+	2	0	MR1	179284880	0.004000	0.15560	0.003000	0.11579	0.163000	0.22366	1.363000	0.34159	1.109000	0.41680	0.484000	0.47621	TCG		0.547	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	
CACNA1E	777	broad.mit.edu	37	1	181765886	181765886	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:181765886C>T	ENST00000367573.2	+	47	6291	c.6291C>T	c.(6289-6291)gtC>gtT	p.V2097V	CACNA1E_ENST00000358338.5_Silent_p.V1986V|CACNA1E_ENST00000526775.1_Silent_p.V2035V|CACNA1E_ENST00000357570.5_Silent_p.V2048V|CACNA1E_ENST00000367567.4_Silent_p.V1661V|CACNA1E_ENST00000360108.3_Silent_p.V2078V|CACNA1E_ENST00000367570.1_Silent_p.V2054V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2097					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V2054V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCTGATGTCTCCCGCTGCA	0.597																																					p.V2054V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6162T	1						.						39.0	43.0	42.0					1																	181765886		1983	4166	6149	180032509	SO:0001819	synonymous_variant	777	exon46			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6291C>T	1.37:g.181765886C>T		Somatic		Capture	Illumina HiSeq	Phase_I	180032509	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.597	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
DHX9	1660	broad.mit.edu	37	1	182835666	182835666	+	Nonsense_Mutation	SNP	C	C	T	rs201916581		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:182835666C>T	ENST00000367549.3	+	13	1530	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	474	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.R474*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTACAGCGTTCGATTTGAGTC	0.418																																					p.R474X	Colon(69;210 1162 3697 13559 39565)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1420T	1						.						181.0	177.0	178.0					1																	182835666		1864	4095	5959	181102289	SO:0001587	stop_gained	1660	exon13			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1420C>T	1.37:g.182835666C>T	ENSP00000356520:p.Arg474*	Somatic		Capture	Illumina HiSeq	Phase_I	181102289	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Nonsense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.496039	0.98319	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.12	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4388	0.67301	0.149:0.851:0.0:0.0	.	.	.	.	X	474	.	ENSP00000356520:R474X	R	+	1	2	DHX9	181102289	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.410000	0.66381	1.108000	0.41662	0.467000	0.42956	CGA		0.418	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
DHX9	1660	broad.mit.edu	37	1	182847293	182847293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:182847293G>A	ENST00000367549.3	+	20	2446	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	779	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.R779Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTGTGCAGCCGAGCTCGTTTT	0.483																																					p.R779Q	Colon(69;210 1162 3697 13559 39565)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2336A	1						.						84.0	80.0	81.0					1																	182847293		1918	4121	6039	181113916	SO:0001583	missense	1660	exon20			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2336G>A	1.37:g.182847293G>A	ENSP00000356520:p.Arg779Gln	Somatic		Capture	Illumina HiSeq	Phase_I	181113916	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583599	0.86748	.	.	ENSG00000135829	ENST00000367549	T	0.02606	4.23	5.78	5.78	0.91487	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.31845	0.965	0.80722	D	1	P;P	0.42337	0.65;0.776	B;B	0.38616	0.154;0.277	T	0.51880	-0.8649	10	0.49607	T	0.09	.	20.0079	0.97439	0.0:0.0:1.0:0.0	.	58;779	B3KU66;Q08211	.;DHX9_HUMAN	Q	779	ENSP00000356520:R779Q	ENSP00000356520:R779Q	R	+	2	0	DHX9	181113916	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.342000	0.79310	2.722000	0.93159	0.655000	0.94253	CGA		0.483	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
LAMC1	3915	broad.mit.edu	37	1	183099601	183099601	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:183099601C>T	ENST00000258341.4	+	19	3660	c.3403C>T	c.(3403-3405)Cgt>Tgt	p.R1135C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1135	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1135C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGAACAAGCGCGTGCCCATGT	0.463																																					p.R1135C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3403T	1						.						97.0	91.0	93.0					1																	183099601		2203	4300	6503	181366224	SO:0001583	missense	3915	exon19			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3403C>T	1.37:g.183099601C>T	ENSP00000258341:p.Arg1135Cys	Somatic		Capture	Illumina HiSeq	Phase_I	181366224	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144081	0.57044	.	.	ENSG00000135862	ENST00000258341	T	0.35973	1.28	4.76	3.84	0.44239	.	0.116475	0.64402	D	0.000018	T	0.39332	0.1074	M	0.62723	1.935	0.80722	D	1	D	0.65815	0.995	P	0.47528	0.549	T	0.34030	-0.9845	10	0.87932	D	0	.	8.2411	0.31660	0.1538:0.7648:0.0:0.0814	.	1135	P11047	LAMC1_HUMAN	C	1135	ENSP00000258341:R1135C	ENSP00000258341:R1135C	R	+	1	0	LAMC1	181366224	0.962000	0.33011	0.699000	0.30290	0.943000	0.58893	2.944000	0.49034	1.120000	0.41904	0.561000	0.74099	CGT		0.463	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
COLGALT2	23127	broad.mit.edu	37	1	183914602	183914602	+	Silent	SNP	G	G	A	rs369711448		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:183914602G>A	ENST00000361927.4	-	9	1604	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	COLGALT2_ENST00000367521.1_Silent_p.I19I|COLGALT2_ENST00000367520.3_Silent_p.I148I|COLGALT2_ENST00000546159.1_Silent_p.I411I	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	411					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.I411I(1)									GAAAGCAGCCGATTTCACCCC	0.468																																					p.I411I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1233T	1						.						131.0	128.0	129.0					1																	183914602		2203	4300	6503	182181225	SO:0001819	synonymous_variant	23127	exon9			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1233C>T	1.37:g.183914602G>A		Somatic		Capture	Illumina HiSeq	Phase_I	182181225	NM_015101	O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	CCDS1360.1																																																																																				0.468	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
EDEM3	80267	broad.mit.edu	37	1	184671948	184671948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:184671948G>A	ENST00000318130.8	-	19	2652	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	EDEM3_ENST00000367512.3_Nonsense_Mutation_p.R753*|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	796					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R753*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTTACCTCGATCTTTTGCT	0.373																																					p.R796X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2386T	1						.						102.0	92.0	96.0					1																	184671948		2203	4300	6503	182938571	SO:0001587	stop_gained	80267	exon19			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2386C>T	1.37:g.184671948G>A	ENSP00000318147:p.Arg796*	Somatic		Capture	Illumina HiSeq	Phase_I	182938571	NM_025191	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Nonsense_Mutation	SNP	ENST00000318130.8	37	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	G	38	7.222258	0.98146	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	.	.	.	4.89	2.96	0.34315	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6212	0.62138	0.0:0.0:0.5007:0.4993	.	.	.	.	X	796;753	.	ENSP00000318147:R796X	R	-	1	2	EDEM3	182938571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.564000	0.45931	0.543000	0.28864	0.655000	0.94253	CGA		0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191	
SWT1	54823	broad.mit.edu	37	1	185173925	185173925	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:185173925C>A	ENST00000367500.4	+	12	1928	c.1763C>A	c.(1762-1764)tCt>tAt	p.S588Y	SWT1_ENST00000367501.3_Missense_Mutation_p.S588Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	588								p.S588Y(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTTGAAAAATCTCTTGGAACA	0.338																																					p.S588Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1763A	1						.						66.0	68.0	67.0					1																	185173925		2203	4297	6500	183440548	SO:0001583	missense	54823	exon12			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1763C>A	1.37:g.185173925C>A	ENSP00000356470:p.Ser588Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	183440548	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218896	0.58560	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.18810	2.19;2.19	5.79	2.69	0.31865	.	0.436137	0.26571	N	0.023630	T	0.24509	0.0594	L	0.56769	1.78	0.27721	N	0.94511	D	0.56521	0.976	P	0.47744	0.556	T	0.07558	-1.0766	10	0.49607	T	0.09	.	8.148	0.31124	0.2407:0.3239:0.4354:0.0	.	588	Q5T5J6	SWT1_HUMAN	Y	588	ENSP00000356471:S588Y;ENSP00000356470:S588Y	ENSP00000356470:S588Y	S	+	2	0	SWT1	183440548	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.378000	0.20569	0.725000	0.32318	0.585000	0.79938	TCT		0.338	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
HMCN1	83872	broad.mit.edu	37	1	186082064	186082064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:186082064G>T	ENST00000271588.4	+	72	11339	c.11110G>T	c.(11110-11112)Gaa>Taa	p.E3704*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E3704*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3704	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E3704K(1)|p.E3704*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACTACAAGAGAATTTATTCT	0.373																																					p.E3704X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(2)	c.G11110T	1						.						98.0	95.0	96.0					1																	186082064		2203	4300	6503	184348687	SO:0001587	stop_gained	83872	exon72			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11110G>T	1.37:g.186082064G>T	ENSP00000271588:p.Glu3704*	Somatic		Capture	Illumina HiSeq	Phase_I	184348687	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	53	21.204006	0.99938	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	4.91	4.91	0.64330	.	0.251924	0.46758	D	0.000278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	18.4556	0.90720	0.0:0.0:1.0:0.0	.	.	.	.	X	3704	.	ENSP00000271588:E3704X	E	+	1	0	HMCN1	184348687	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.371000	0.52379	2.416000	0.81992	0.655000	0.94253	GAA		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186114590	186114590	+	Silent	SNP	C	C	T	rs139398979		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:186114590C>T	ENST00000271588.4	+	92	14551	c.14322C>T	c.(14320-14322)aaC>aaT	p.N4774N	HMCN1_ENST00000367492.2_Silent_p.N4774N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4774	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.N4774N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACGTGTAACGGAGGGCAGA	0.552																																					p.N4774N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14322T	1						.	C		2,4404	4.2+/-10.8	0,2,2201	96.0	89.0	92.0		14322	-10.5	0.0	1	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		4774/5636	186114590	2,13004	2203	4300	6503	184381213	SO:0001819	synonymous_variant	83872	exon92			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14322C>T	1.37:g.186114590C>T		Somatic		Capture	Illumina HiSeq	Phase_I	184381213	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TPR	7175	broad.mit.edu	37	1	186328971	186328971	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:186328971G>T	ENST00000367478.4	-	12	1645	c.1349C>A	c.(1348-1350)gCt>gAt	p.A450D	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	450	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A451D(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTTGCTACAGCTTTCTGTGC	0.363			T	NTRK1	papillary thyroid																																p.A450D			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1349A	1						.						152.0	135.0	140.0					1																	186328971		1854	4107	5961	184595594	SO:0001583	missense	7175	exon12			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1349C>A	1.37:g.186328971G>T	ENSP00000356448:p.Ala450Asp	Somatic		Capture	Illumina HiSeq	Phase_I	184595594	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386839	0.95967	.	.	ENSG00000047410	ENST00000367478	T	0.00995	5.46	5.87	5.87	0.94306	.	0.104786	0.64402	D	0.000002	T	0.01353	0.0044	N	0.25485	0.75	0.51233	D	0.999914	P;P	0.52842	0.692;0.956	B;B	0.44224	0.275;0.444	T	0.81355	-0.0970	10	0.21540	T	0.41	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	450;450	Q15624;P12270	.;TPR_HUMAN	D	450	ENSP00000356448:A450D	ENSP00000356448:A450D	A	-	2	0	TPR	184595594	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.421000	0.97455	2.775000	0.95449	0.650000	0.86243	GCT		0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186344031	186344031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:186344031C>A	ENST00000367478.4	-	1	426	c.130G>T	c.(130-132)Gag>Tag	p.E44*	C1orf27_ENST00000367470.3_5'Flank|TPR_ENST00000474852.1_5'UTR|C1orf27_ENST00000287859.6_5'Flank|C1orf27_ENST00000419367.3_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	44	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E44*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTAAATTTCTCATGCCGCCCC	0.537			T	NTRK1	papillary thyroid																																p.E44X			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G130T	1						.						121.0	137.0	132.0					1																	186344031		1929	4133	6062	184610654	SO:0001587	stop_gained	7175	exon1			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.130G>T	1.37:g.186344031C>A	ENSP00000356448:p.Glu44*	Somatic		Capture	Illumina HiSeq	Phase_I	184610654	NM_003292	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	40	7.938287	0.98571	.	.	ENSG00000047410	ENST00000367478;ENST00000367472;ENST00000451586	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0513	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	X	44;120;120	.	ENSP00000356442:E120X	E	-	1	0	TPR	184610654	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.573000	0.74009	2.585000	0.87301	0.655000	0.94253	GAG		0.537	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PLA2G4A	5321	broad.mit.edu	37	1	186919851	186919851	+	Missense_Mutation	SNP	G	G	A	rs200911298	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:186919851G>A	ENST00000367466.3	+	13	1479	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E383K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	443	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E443K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TGAATCACACGAACCCAAAGG	0.393													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15506	0.0		0.001	False		,,,				2504	0.0				p.E443K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1327A	1						.						60.0	57.0	58.0					1																	186919851		2203	4300	6503	185186474	SO:0001583	missense	5321	exon13			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1327G>A	1.37:g.186919851G>A	ENSP00000356436:p.Glu443Lys	Somatic		Capture	Illumina HiSeq	Phase_I	185186474	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014773	0.19355	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.10960	2.82;2.82	6.07	6.07	0.98685	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.411866	0.30979	N	0.008488	T	0.04543	0.0124	N	0.02539	-0.55	0.28325	N	0.922033	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.06625	T	0.88	-6.5997	15.8546	0.78968	0.0:0.1446:0.8554:0.0	.	383;443	E7EU42;P47712	.;PA24A_HUMAN	K	443;383	ENSP00000356436:E443K;ENSP00000406892:E383K	ENSP00000356436:E443K	E	+	1	0	PLA2G4A	185186474	0.844000	0.29557	0.967000	0.41034	0.489000	0.33432	2.286000	0.43496	2.885000	0.99019	0.655000	0.94253	GAA		0.393	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
BRINP3	339479	broad.mit.edu	37	1	190067555	190067555	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:190067555G>A	ENST00000367462.3	-	8	2125	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R530C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	632					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R632C(1)									GACTTGATGCGACTTCTCAGG	0.423																																					p.R632C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1894T	1						.						212.0	221.0	218.0					1																	190067555		2203	4300	6503	188334178	SO:0001583	missense	339479	exon8			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1894C>T	1.37:g.190067555G>A	ENSP00000356432:p.Arg632Cys	Somatic		Capture	Illumina HiSeq	Phase_I	188334178	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666883	0.29604	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23552	2.17;1.9	5.64	5.64	0.86602	.	0.054845	0.64402	D	0.000001	T	0.48409	0.1498	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.60286	0.872;0.683	T	0.48387	-0.9040	10	0.87932	D	0	.	17.1867	0.86868	0.0:0.0:1.0:0.0	.	530;632	B7Z260;Q76B58	.;FAM5C_HUMAN	C	632;530	ENSP00000356432:R632C;ENSP00000438022:R530C	ENSP00000356432:R632C	R	-	1	0	FAM5C	188334178	1.000000	0.71417	0.996000	0.52242	0.111000	0.19643	3.626000	0.54245	2.657000	0.90304	0.650000	0.86243	CGC		0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
BRINP3	339479	broad.mit.edu	37	1	190195270	190195270	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:190195270C>A	ENST00000367462.3	-	6	1134	c.903G>T	c.(901-903)gaG>gaT	p.E301D	BRINP3_ENST00000463404.1_5'UTR|BRINP3_ENST00000534846.1_Missense_Mutation_p.E199D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	301					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.E301D(1)									GAAGAAGATTCTCTTCCATGG	0.393																																					p.E301D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G903T	1						.						78.0	75.0	76.0					1																	190195270		2203	4300	6503	188461893	SO:0001583	missense	339479	exon6			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.903G>T	1.37:g.190195270C>A	ENSP00000356432:p.Glu301Asp	Somatic		Capture	Illumina HiSeq	Phase_I	188461893	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168602	0.38315	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18174	2.49;2.23	5.95	1.55	0.23275	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	L	0.28556	0.865	0.46521	D	0.999086	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	T	0.20405	-1.0276	10	0.10111	T	0.7	.	6.4502	0.21900	0.0:0.4699:0.0:0.5301	.	199;301	B7Z260;Q76B58	.;FAM5C_HUMAN	D	301;199	ENSP00000356432:E301D;ENSP00000438022:E199D	ENSP00000356432:E301D	E	-	3	2	FAM5C	188461893	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.284000	0.18864	0.421000	0.25980	0.563000	0.77884	GAG		0.393	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
BRINP3	339479	broad.mit.edu	37	1	190234129	190234129	+	Nonsense_Mutation	SNP	C	C	A	rs368852443		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:190234129C>A	ENST00000367462.3	-	4	715	c.484G>T	c.(484-486)Gga>Tga	p.G162*	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Nonsense_Mutation_p.G60*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	162	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GAATCACTTCCTTCAGCTCGT	0.428																																					p.G162X												.	.	0			c.G484T	1						.						117.0	98.0	105.0					1																	190234129		2203	4300	6503	188500752	SO:0001587	stop_gained	339479	exon4			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.484G>T	1.37:g.190234129C>A	ENSP00000356432:p.Gly162*	None		Capture	Illumina HiSeq	Phase_I	188500752	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	41	8.711461	0.98925	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.75	5.75	0.90469	.	0.131882	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.4435	0.87572	0.0:1.0:0.0:0.0	.	.	.	.	X	162;60	.	ENSP00000356432:G162X	G	-	1	0	FAM5C	188500752	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.467000	0.60155	2.721000	0.93114	0.585000	0.79938	GGA		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
RGS21	431704	broad.mit.edu	37	1	192335204	192335204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:192335204G>A	ENST00000417209.2	+	5	583	c.409G>A	c.(409-411)Gta>Ata	p.V137I		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	137	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.V137I(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TAAAAAACTGGTAAATAGCCA	0.343																																					p.V137I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	1						.						58.0	56.0	57.0					1																	192335204		1797	4068	5865	190601827	SO:0001583	missense	431704	exon5			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.409G>A	1.37:g.192335204G>A	ENSP00000428343:p.Val137Ile	Somatic		Capture	Illumina HiSeq	Phase_I	190601827	NM_001039152		Missense_Mutation	SNP	ENST00000417209.2	37	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597757	0.13875	.	.	ENSG00000253148	ENST00000417209	T	0.30714	1.52	5.53	0.432	0.16529	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.607675	0.12251	U	0.485566	T	0.14313	0.0346	N	0.10945	0.07	0.22142	N	0.999331	B	0.02656	0.0	B	0.04013	0.001	T	0.33240	-0.9876	10	0.15499	T	0.54	.	9.3881	0.38356	0.3699:0.0:0.6301:0.0	.	137	Q2M5E4	RGS21_HUMAN	I	137	ENSP00000428343:V137I	ENSP00000428343:V137I	V	+	1	0	RGS21	190601827	0.998000	0.40836	0.985000	0.45067	0.908000	0.53690	0.344000	0.19962	0.034000	0.15491	-0.216000	0.12614	GTA		0.343	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2		
F13B	2165	broad.mit.edu	37	1	197009831	197009831	+	Missense_Mutation	SNP	C	C	A	rs368242266		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197009831C>A	ENST00000367412.1	-	11	1816	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	591	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.K591N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTAAATTATTCTTTTCCATTT	0.303																																					p.K591N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1773T	1						.	C	ASN/LYS	1,4401		0,1,2200	47.0	43.0	44.0		1773	-4.6	0.1	1		44	0,8588		0,0,4294	no	missense	F13B	NM_001994.2	94	0,1,6494	AA,AC,CC		0.0,0.0227,0.0077	benign	591/662	197009831	1,12989	2201	4294	6495	195276454	SO:0001583	missense	2165	exon11			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1773G>T	1.37:g.197009831C>A	ENSP00000356382:p.Lys591Asn	Somatic		Capture	Illumina HiSeq	Phase_I	195276454	NM_001994	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	7.481	0.648734	0.14516	2.27E-4	0.0	ENSG00000143278	ENST00000367412	D	0.83335	-1.71	5.59	-4.56	0.03431	Complement control module (1);	1.279610	0.05834	N	0.618136	T	0.59321	0.2185	N	0.12569	0.235	0.23180	N	0.998161	B	0.09022	0.002	B	0.04013	0.001	T	0.48198	-0.9056	10	0.11182	T	0.66	.	1.4793	0.02433	0.4066:0.1324:0.2793:0.1818	.	591	P05160	F13B_HUMAN	N	591	ENSP00000356382:K591N	ENSP00000356382:K591N	K	-	3	2	F13B	195276454	0.004000	0.15560	0.128000	0.21923	0.953000	0.61014	-0.354000	0.07681	-0.428000	0.07339	-0.176000	0.13171	AAG		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	
ASPM	259266	broad.mit.edu	37	1	197072844	197072844	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197072844G>T	ENST00000367409.4	-	18	5793	c.5537C>A	c.(5536-5538)tCt>tAt	p.S1846Y	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1846	IQ 9. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S1846Y(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAAGCACAGATTGATATTT	0.348																																					p.S1846Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5537A	1						.						80.0	87.0	84.0					1																	197072844		2203	4299	6502	195339467	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5537C>A	1.37:g.197072844G>T	ENSP00000356379:p.Ser1846Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	195339467	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	2.891	-0.229716	0.06022	.	.	ENSG00000066279	ENST00000367409	T	0.71934	-0.61	5.58	2.59	0.31030	.	0.673427	0.14576	N	0.311146	T	0.72003	0.3407	L	0.61387	1.9	0.09310	N	0.999999	P	0.50156	0.932	P	0.54238	0.746	T	0.58340	-0.7653	10	0.23302	T	0.38	.	5.5586	0.17131	0.0699:0.2519:0.5358:0.1423	.	1846	Q8IZT6	ASPM_HUMAN	Y	1846	ENSP00000356379:S1846Y	ENSP00000356379:S1846Y	S	-	2	0	ASPM	195339467	0.000000	0.05858	0.001000	0.08648	0.799000	0.45148	0.882000	0.28186	0.257000	0.21650	0.650000	0.86243	TCT		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ZBTB41	360023	broad.mit.edu	37	1	197168890	197168890	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197168890T>C	ENST00000367405.4	-	1	782	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	238					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.K238K(1)		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						TTAACCCATGTTTTTTCCCTA	0.368																																					p.K238K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A714G	1						.						31.0	33.0	33.0					1																	197168890		2198	4295	6493	195435513	SO:0001819	synonymous_variant	360023	exon1				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.714A>G	1.37:g.197168890T>C		Somatic		Capture	Illumina HiSeq	Phase_I	195435513	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	ENST00000367405.4	37	CCDS30960.1																																																																																				0.368	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
CRB1	23418	broad.mit.edu	37	1	197297638	197297638	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197297638G>T	ENST00000367400.3	+	2	292	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	CRB1_ENST00000538660.1_Missense_Mutation_p.D53Y|CRB1_ENST00000367399.2_Missense_Mutation_p.D53Y|CRB1_ENST00000535699.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	53	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D53Y(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAAAGACAATGATTGTTCTTG	0.378																																					p.D53Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157T	1						.						62.0	64.0	64.0					1																	197297638		2203	4300	6503	195564261	SO:0001583	missense	23418	exon2				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.157G>T	1.37:g.197297638G>T	ENSP00000356370:p.Asp53Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	195564261	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	1.554	-0.538452	0.04082	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91577	-2.87;-1.77;-2.27	4.3	0.577	0.17385	Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.77039	0.4072	N	0.11560	0.145	0.09310	N	1	D;B;P;P	0.54772	0.968;0.078;0.906;0.913	B;B;B;B	0.41571	0.254;0.054;0.36;0.254	T	0.70630	-0.4819	9	0.62326	D	0.03	.	1.8787	0.03223	0.4595:0.1278:0.2877:0.125	.	53;53;53;78	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	Y	53	ENSP00000438091:D53Y;ENSP00000356370:D53Y;ENSP00000356369:D53Y	ENSP00000356369:D53Y	D	+	1	0	CRB1	195564261	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.257000	0.18369	-0.095000	0.12351	-0.140000	0.14226	GAT		0.378	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
CRB1	23418	broad.mit.edu	37	1	197297777	197297777	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197297777C>A	ENST00000367400.3	+	2	431	c.296C>A	c.(295-297)cCt>cAt	p.P99H	CRB1_ENST00000538660.1_Missense_Mutation_p.P99H|CRB1_ENST00000367399.2_Missense_Mutation_p.P99H|CRB1_ENST00000535699.1_Missense_Mutation_p.P30H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	99	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P99H(1)|p.P99L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAAATGTCCTCCTGGGTAC	0.488																																					p.P99H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C296A	1						.						92.0	83.0	86.0					1																	197297777		2203	4300	6503	195564400	SO:0001583	missense	23418	exon2				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.296C>A	1.37:g.197297777C>A	ENSP00000356370:p.Pro99His	Somatic		Capture	Illumina HiSeq	Phase_I	195564400	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937885	0.34189	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.94613	3.16;-3.47;-3.47;-3.47	5.52	4.47	0.54385	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96046	0.8712	M	0.67569	2.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.983;0.999;1.0;0.993	D	0.94916	0.8069	9	0.41790	T	0.15	.	10.0478	0.42197	0.0:0.8149:0.0:0.1851	.	99;30;99;99;124	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	H	30;99;99;99	ENSP00000438786:P30H;ENSP00000438091:P99H;ENSP00000356370:P99H;ENSP00000356369:P99H	ENSP00000356369:P99H	P	+	2	0	CRB1	195564400	0.123000	0.22298	0.997000	0.53966	0.126000	0.20510	0.652000	0.24888	1.203000	0.43233	0.655000	0.94253	CCT		0.488	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
CRB1	23418	broad.mit.edu	37	1	197404069	197404069	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197404069T>G	ENST00000367400.3	+	9	3211	c.3076T>G	c.(3076-3078)Ttg>Gtg	p.L1026V	CRB1_ENST00000367397.1_Missense_Mutation_p.L407V|CRB1_ENST00000544212.1_Missense_Mutation_p.L507V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.L914V|CRB1_ENST00000535699.1_Missense_Mutation_p.L1002V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1026	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1026V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGACAAGTTTGCAGTCAGT	0.423																																					p.L1026V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3076G	1						.						76.0	79.0	78.0					1																	197404069		2203	4300	6503	195670692	SO:0001583	missense	23418	exon9				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3076T>G	1.37:g.197404069T>G	ENSP00000356370:p.Leu1026Val	Somatic		Capture	Illumina HiSeq	Phase_I	195670692	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	0.054	-1.241405	0.01493	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.43	-10.9	0.00192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.36936	0.0985	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.17268	0.005;0.021;0.001;0.004	B;B;B;B	0.15484	0.006;0.013;0.003;0.007	T	0.08391	-1.0724	9	0.13470	T	0.59	.	3.7444	0.08542	0.1336:0.3716:0.2508:0.244	.	1002;914;675;1026	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	V	1002;1026;914;507;407;675	ENSP00000438786:L1002V;ENSP00000356370:L1026V;ENSP00000356369:L914V;ENSP00000444556:L507V;ENSP00000356367:L407V	ENSP00000356367:L407V	L	+	1	2	CRB1	195670692	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.992000	0.03724	-3.950000	0.00088	-0.924000	0.02725	TTG		0.423	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
DENND1B	163486	broad.mit.edu	37	1	197586839	197586839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197586839C>T	ENST00000367396.3	-	11	892	c.723G>A	c.(721-723)tgG>tgA	p.W241*	DENND1B_ENST00000400967.2_Nonsense_Mutation_p.W211*|DENND1B_ENST00000235453.4_Nonsense_Mutation_p.W211*	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	241	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.W211*(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						ATATGTGTTGCCAATACATTG	0.413																																					p.W241X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G723A	1						.						126.0	123.0	124.0					1																	197586839		1995	4182	6177	195853462	SO:0001587	stop_gained	163486	exon11			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.723G>A	1.37:g.197586839C>T	ENSP00000356366:p.Trp241*	Somatic		Capture	Illumina HiSeq	Phase_I	195853462	NM_001195215	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Nonsense_Mutation	SNP	ENST00000367396.3	37	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	38	7.265723	0.98175	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3787	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	241;221;211;241;211	.	ENSP00000235453:W211X	W	-	3	0	DENND1B	195853462	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.471000	0.80985	2.854000	0.98071	0.655000	0.94253	TGG		0.413	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977	
LHX9	56956	broad.mit.edu	37	1	197890486	197890486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:197890486G>T	ENST00000367387.4	+	3	855	c.430G>T	c.(430-432)Gag>Tag	p.E144*	LHX9_ENST00000337020.2_Nonsense_Mutation_p.E144*|LHX9_ENST00000367390.3_Nonsense_Mutation_p.E135*|LHX9_ENST00000367391.1_Nonsense_Mutation_p.E135*|LHX9_ENST00000561173.1_Nonsense_Mutation_p.E150*	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	144	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E144*(1)|p.E135*(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTCCGCCTCGGAGATGGTCAT	0.572																																					p.E144X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G430T	1						.						59.0	58.0	58.0					1																	197890486		2203	4300	6503	196157109	SO:0001587	stop_gained	56956	exon3			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.430G>T	1.37:g.197890486G>T	ENSP00000356357:p.Glu144*	Somatic		Capture	Illumina HiSeq	Phase_I	196157109	NM_020204	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Nonsense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	42	9.282755	0.99123	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	135;135;144;144	.	ENSP00000337969:E144X	E	+	1	0	LHX9	196157109	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAG		0.572	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
PTPRC	5788	broad.mit.edu	37	1	198723441	198723441	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:198723441C>A	ENST00000367376.2	+	32	3718	c.3547C>A	c.(3547-3549)Ctc>Atc	p.L1183I	PTPRC_ENST00000348564.6_Missense_Mutation_p.L1024I|PTPRC_ENST00000594404.1_Missense_Mutation_p.L1022I|PTPRC_ENST00000352140.3_Missense_Mutation_p.L1135I|PTPRC_ENST00000442510.2_Missense_Mutation_p.L1185I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1183	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1183I(1)|p.L1183F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTGTTAAATCTCTTAGAAAG	0.373																																					p.L1022I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3064A	1						.						124.0	125.0	125.0					1																	198723441		2203	4300	6503	196990064	SO:0001583	missense	5788	exon29			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3547C>A	1.37:g.198723441C>A	ENSP00000356346:p.Leu1183Ile	Somatic		Capture	Illumina HiSeq	Phase_I	196990064	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.215485	0.79352	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T;T;T	0.14640	2.49;2.49;2.49	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.41938	D	0.000799	T	0.28333	0.0700	L	0.36672	1.1	0.80722	D	1	P;P;P	0.52061	0.95;0.95;0.95	P;P;D	0.64877	0.899;0.899;0.93	T	0.00152	-1.1984	10	0.40728	T	0.16	.	18.3145	0.90215	0.0:1.0:0.0:0.0	.	1024;1135;1183	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	I	1185;1135;1183;1022	ENSP00000193532:L1135I;ENSP00000411355:L1183I;ENSP00000306782:L1022I	ENSP00000306782:L1022I	L	+	1	0	PTPRC	196990064	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.448000	0.52943	2.760000	0.94817	0.644000	0.83932	CTC		0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
KIF14	9928	broad.mit.edu	37	1	200573037	200573037	+	Missense_Mutation	SNP	C	C	T	rs373895990		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:200573037C>T	ENST00000367350.4	-	9	2231	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	598	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R598Q(3)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGGTTAATTCGACTTGTTAT	0.368																																					p.R598Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1793A	1						.						127.0	119.0	122.0					1																	200573037		2203	4300	6503	198839660	SO:0001583	missense	9928	exon9			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1793G>A	1.37:g.200573037C>T	ENSP00000356319:p.Arg598Gln	Somatic		Capture	Illumina HiSeq	Phase_I	198839660	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473371	0.84640	.	.	ENSG00000118193	ENST00000367350	T	0.74737	-0.87	5.31	5.31	0.75309	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.056634	0.64402	D	0.000001	T	0.78084	0.4228	L	0.31578	0.945	0.50813	D	0.999896	D	0.89917	1.0	D	0.72982	0.979	T	0.79446	-0.1800	10	0.59425	D	0.04	.	12.7829	0.57487	0.0:0.9144:0.0:0.0856	.	598	Q15058	KIF14_HUMAN	Q	598	ENSP00000356319:R598Q	ENSP00000356319:R598Q	R	-	2	0	KIF14	198839660	1.000000	0.71417	0.977000	0.42913	0.497000	0.33675	5.709000	0.68384	2.481000	0.83766	0.585000	0.79938	CGA		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
CACNA1S	779	broad.mit.edu	37	1	201047176	201047176	+	Missense_Mutation	SNP	A	A	G	rs9333651		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:201047176A>G	ENST00000362061.3	-	11	1676	c.1450T>C	c.(1450-1452)Tac>Cac	p.Y484H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.Y484H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	484					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Y484H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAGCCCGTACATCTTCATC	0.577																																					p.Y484H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1450C	1						.						142.0	127.0	132.0					1																	201047176		2203	4300	6503	199313799	SO:0001583	missense	779	exon11			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1450T>C	1.37:g.201047176A>G	ENSP00000355192:p.Tyr484His	Somatic		Capture	Illumina HiSeq	Phase_I	199313799	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294078	0.81025	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98437	-4.93;-4.93	4.78	4.78	0.61160	Ion transport (1);	0.115400	0.64402	D	0.000010	D	0.99223	0.9730	H	0.96111	3.77	0.58432	D	0.999991	D	0.53885	0.963	D	0.66497	0.944	D	0.98908	1.0779	10	0.87932	D	0	.	14.5702	0.68205	1.0:0.0:0.0:0.0	.	484	Q13698	CAC1S_HUMAN	H	484	ENSP00000355192:Y484H;ENSP00000356307:Y484H	ENSP00000355192:Y484H	Y	-	1	0	CACNA1S	199313799	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.311000	0.96282	1.903000	0.55091	0.523000	0.50628	TAC		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
NAV1	89796	broad.mit.edu	37	1	201751427	201751427	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:201751427T>G	ENST00000367296.4	+	6	2207	c.1787T>G	c.(1786-1788)aTt>aGt	p.I596S	NAV1_ENST00000367302.1_Missense_Mutation_p.I609S|NAV1_ENST00000367297.4_Missense_Mutation_p.I596S|NAV1_ENST00000367300.3_Missense_Mutation_p.I596S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.I205S|NAV1_ENST00000295624.6_Missense_Mutation_p.I596S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	596					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.I596S(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCGGGCATTGCTCGCCCC	0.587																																					p.I205S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T614G	1						.						62.0	65.0	64.0					1																	201751427		2203	4300	6503	200018050	SO:0001583	missense	89796	exon4			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1787T>G	1.37:g.201751427T>G	ENSP00000356265:p.Ile596Ser	Somatic		Capture	Illumina HiSeq	Phase_I	200018050	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.15|15.15	2.748178|2.748178	0.49257|0.49257	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.39056	.|1.1;1.1;1.1;1.1;1.1;1.1	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.191253	.|0.46758	.|D	.|0.000265	T|T	0.33381|0.33381	0.0861|0.0861	N|N	0.21194|0.21194	0.64|0.64	0.48571|0.48571	D|D	0.99967|0.99967	.|P;B;P;P	.|0.39216	.|0.467;0.019;0.664;0.61	.|B;B;B;B	.|0.41036	.|0.275;0.02;0.346;0.275	T|T	0.07966|0.07966	-1.0745|-1.0745	5|10	.|0.18710	.|T	.|0.47	-16.1797|-16.1797	15.8237|15.8237	0.78678|0.78678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|205;596;104;596	.|Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;NAV1_HUMAN;.;.	Q|S	153|609;596;596;596;596;104;205	.|ENSP00000356271:I609S;ENSP00000356265:I596S;ENSP00000295624:I596S;ENSP00000356266:I596S;ENSP00000356269:I596S;ENSP00000356264:I205S	.|ENSP00000295624:I596S	H|I	+|+	3|2	2|0	NAV1|NAV1	200018050|200018050	0.983000|0.983000	0.35010|0.35010	0.997000|0.997000	0.53966|0.53966	0.868000|0.868000	0.49771|0.49771	6.237000|6.237000	0.72345|0.72345	2.224000|2.224000	0.72417|0.72417	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
TMEM183A	92703	broad.mit.edu	37	1	202985259	202985259	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:202985259G>T	ENST00000367242.3	+	5	779	c.699G>T	c.(697-699)aaG>aaT	p.K233N	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	233						integral component of membrane (GO:0016021)		p.K233N(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			GCACATTAAAGAATTCCAAAG	0.458																																					p.K233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	1						.						75.0	78.0	77.0					1																	202985259		2203	4300	6503	201251882	SO:0001583	missense	92703	exon5			BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.699G>T	1.37:g.202985259G>T	ENSP00000356211:p.Lys233Asn	Somatic		Capture	Illumina HiSeq	Phase_I	201251882	NM_001079809	A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620111	0.66787	.	.	ENSG00000163444	ENST00000367242	T	0.24538	1.85	5.4	5.4	0.78164	.	0.278284	0.42053	D	0.000776	T	0.25044	0.0608	L	0.47716	1.5	0.43462	D	0.99566	P;B;P;P	0.47302	0.893;0.145;0.893;0.893	P;B;B;P	0.45310	0.476;0.092;0.394;0.476	T	0.02398	-1.1165	10	0.66056	D	0.02	-7.4509	6.1449	0.20280	0.1173:0.0:0.7049:0.1777	.	233;233;233;233	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	N	233	ENSP00000356211:K233N	ENSP00000356211:K233N	K	+	3	2	TMEM183A	201251882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.114000	0.41911	2.679000	0.91253	0.655000	0.94253	AAG		0.458	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391	
SRGAP2	23380	broad.mit.edu	37	1	206603572	206603572	+	Splice_Site	SNP	G	G	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:206603572G>C	ENST00000414007.1	+	10	1135	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	519	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.G379*(1)|p.G379R(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAGCAGACACGGTAAGCAGGA	0.438																																					p.R431P												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G1292C	1						.						163.0	154.0	157.0					1																	206603572		1898	4117	6015	204670195	SO:0001630	splice_region_variant	23380	exon11			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1135+1G>C	1.37:g.206603572G>C		Somatic		Capture	Illumina HiSeq	Phase_I	204670195	NM_001170637		Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.375194|5.375194	0.95923|0.95923	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000439126|ENST00000295713	T;T|.	0.57752|.	0.38;0.38|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80031|0.80031	0.4549|0.4549	.|.	.|.	.|.	0.46849|.	D|.	0.999220|.	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.77713|0.77713	-0.2485|-0.2485	8|3	0.87932|.	D|.	0|.	.|.	20.0706|20.0706	0.97721|0.97721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	366;519|.	B4DDU0;O75044|.	.;FNBP2_HUMAN|.	R|P	432;379;133|432	ENSP00000390898:G379R;ENSP00000403036:G133R|.	ENSP00000390898:G379R|.	G|R	+|+	1|2	0|0	SRGAP2|SRGAP2	204670195|204670195	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.996000|0.996000	0.88848|0.88848	9.780000|9.780000	0.99024|0.99024	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.438	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326	Missense_Mutation
DYRK3	8444	broad.mit.edu	37	1	206821005	206821005	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:206821005C>A	ENST00000367109.2	+	3	630	c.462C>A	c.(460-462)ctC>ctA	p.L154L	DYRK3_ENST00000367106.1_Silent_p.L134L|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Silent_p.L134L	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	154					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L119L(1)|p.L154L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AACACCACCTCACTGCCTATG	0.403																																					p.L154L	Melanoma(164;427 2622 26826 51707)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C462A	1						.						77.0	79.0	78.0					1																	206821005		2203	4300	6503	204887628	SO:0001819	synonymous_variant	8444	exon3			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.462C>A	1.37:g.206821005C>A		Somatic		Capture	Illumina HiSeq	Phase_I	204887628	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	CCDS30999.1																																																																																				0.403	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
IL10	3586	broad.mit.edu	37	1	206944257	206944257	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:206944257G>A	ENST00000423557.1	-	3	431	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	125					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.R125C(2)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTACACAGCGCCGTAGCCTC	0.552																																					p.R125C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C373T	1						.						129.0	124.0	126.0					1																	206944257		2203	4300	6503	205010880	SO:0001583	missense	3586	exon3			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.373C>T	1.37:g.206944257G>A	ENSP00000412237:p.Arg125Cys	Somatic		Capture	Illumina HiSeq	Phase_I	205010880	NM_000572		Missense_Mutation	SNP	ENST00000423557.1	37	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116296	0.56505	.	.	ENSG00000136634	ENST00000423557	T	0.72394	-0.65	5.99	5.99	0.97316	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.412949	0.29493	N	0.011992	T	0.76335	0.3973	M	0.90252	3.1	0.80722	D	1	B	0.26845	0.161	B	0.15484	0.013	T	0.76639	-0.2885	10	0.87932	D	0	-16.6157	15.9778	0.80083	0.0:0.0:1.0:0.0	.	125	P22301	IL10_HUMAN	C	125	ENSP00000412237:R125C	ENSP00000412237:R125C	R	-	1	0	IL10	205010880	1.000000	0.71417	0.981000	0.43875	0.622000	0.37654	5.449000	0.66619	2.840000	0.97914	0.655000	0.94253	CGC		0.552	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
CR2	1380	broad.mit.edu	37	1	207640017	207640017	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:207640017G>T	ENST00000367058.3	+	2	394	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	CR2_ENST00000458541.2_Missense_Mutation_p.D69Y|CR2_ENST00000367057.3_Missense_Mutation_p.D69Y|CR2_ENST00000367059.3_Missense_Mutation_p.D69Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.D69Y(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CATAACTAAAGACAAAGTGGA	0.393																																					p.D69Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205T	1						.						99.0	100.0	99.0					1																	207640017		2203	4299	6502	205706640	SO:0001583	missense	1380	exon2			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.205G>T	1.37:g.207640017G>T	ENSP00000356025:p.Asp69Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	205706640	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842816	0.51057	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.0	2.01	0.26516	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.77651	0.4162	M	0.86028	2.79	0.22571	N	0.998975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.98	T	0.63332	-0.6661	9	0.62326	D	0.03	.	7.2748	0.26277	0.285:0.0:0.715:0.0	.	69;69;69	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	69	ENSP00000356025:D69Y;ENSP00000356024:D69Y;ENSP00000356026:D69Y;ENSP00000404222:D69Y	ENSP00000356024:D69Y	D	+	1	0	CR2	205706640	1.000000	0.71417	0.487000	0.27428	0.061000	0.15899	1.678000	0.37586	0.686000	0.31488	0.655000	0.94253	GAC		0.393	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR2	1380	broad.mit.edu	37	1	207643409	207643409	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:207643409A>G	ENST00000367058.3	+	6	1376	c.1187A>G	c.(1186-1188)cAa>cGa	p.Q396R	CR2_ENST00000458541.2_Missense_Mutation_p.Q396R|CR2_ENST00000367057.3_Missense_Mutation_p.Q396R|CR2_ENST00000367059.3_Missense_Mutation_p.Q396R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	396	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.Q396R(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGCAATGCCCAAGGCACATGG	0.463																																					p.Q396R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1187G	1						.						84.0	75.0	78.0					1																	207643409		2203	4300	6503	205710032	SO:0001583	missense	1380	exon6			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1187A>G	1.37:g.207643409A>G	ENSP00000356025:p.Gln396Arg	Somatic		Capture	Illumina HiSeq	Phase_I	205710032	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.772949	0.31411	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.09	1.57	0.23409	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62171	0.2406	L	0.41573	1.285	0.09310	N	1	P;D;P	0.54207	0.949;0.965;0.936	P;P;P	0.62740	0.881;0.906;0.669	T	0.51379	-0.8713	9	0.12430	T	0.62	.	6.6895	0.23163	0.7137:0.0:0.2863:0.0	.	396;396;396	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	396	ENSP00000356025:Q396R;ENSP00000356024:Q396R;ENSP00000356026:Q396R;ENSP00000404222:Q396R	ENSP00000356024:Q396R	Q	+	2	0	CR2	205710032	0.001000	0.12720	0.001000	0.08648	0.228000	0.25075	0.244000	0.18124	0.162000	0.19483	0.459000	0.35465	CAA		0.463	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR1	1378	broad.mit.edu	37	1	207679396	207679396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:207679396C>T	ENST00000367049.4	+	2	269	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CR1_ENST00000367053.1_Missense_Mutation_p.S90L|CR1_ENST00000367051.1_Missense_Mutation_p.S90L|CR1_ENST00000367052.1_Missense_Mutation_p.S90L|CR1_ENST00000400960.2_Missense_Mutation_p.S90L|CR1_ENST00000367050.4_3'UTR	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	90	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.S95L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTAAAAAACTCAGTCTGGACT	0.438																																					p.S90L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C269T	1						.						155.0	142.0	146.0					1																	207679396		1843	4087	5930	205746019	SO:0001583	missense	1378	exon2			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.269C>T	1.37:g.207679396C>T	ENSP00000356016:p.Ser90Leu	Somatic		Capture	Illumina HiSeq	Phase_I	205746019	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.292|6.292	0.421987|0.421987	0.11928|0.11928	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	.|T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76	4.13|4.13	1.19|1.19	0.21007|0.21007	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	.|T	.|0.25044	.|0.0608	N|N	0.05467|0.05467	-0.045|-0.045	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.20261	.|0.02;0.017;0.002;0.043;0.011	.|B;B;B;B;B	.|0.24974	.|0.057;0.033;0.024;0.036;0.019	.|T	.|0.24261	.|-1.0165	.|9	.|0.29301	.|T	.|0.29	.|.	6.1514|6.1514	0.20314|0.20314	0.0:0.6697:0.0:0.3303|0.0:0.6697:0.0:0.3303	.|.	.|90;90;65;90;90	.|Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.|.;.;.;CR1_HUMAN;.	X|L	66|90	.|ENSP00000356019:S90L;ENSP00000356018:S90L;ENSP00000356020:S90L;ENSP00000383744:S90L;ENSP00000436139:S90L;ENSP00000356016:S90L	.|ENSP00000356016:S90L	Q|S	+|+	1|2	0|0	CR1|CR1	205746019|205746019	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.385000|-0.385000	0.07379|0.07379	0.153000|0.153000	0.19213|0.19213	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.438	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
IRF6	3664	broad.mit.edu	37	1	209964105	209964105	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:209964105G>T	ENST00000367021.3	-	7	967	c.795C>A	c.(793-795)ctC>ctA	p.L265L	IRF6_ENST00000542854.1_Silent_p.L170L	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	265					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L265L(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CGGGACCAAAGAGCTCCTCCT	0.577										HNSCC(57;0.16)																											p.L265L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795A	1	GRCh37	CD022554	IRF6	D		.						74.0	72.0	73.0					1																	209964105		2203	4300	6503	208030728	SO:0001819	synonymous_variant	3664	exon7			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.795C>A	1.37:g.209964105G>T		Somatic		Capture	Illumina HiSeq	Phase_I	208030728	NM_006147	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	ENST00000367021.3	37	CCDS1492.1																																																																																				0.577	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
HHAT	55733	broad.mit.edu	37	1	210577865	210577865	+	Missense_Mutation	SNP	C	C	T	rs567439002	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:210577865C>T	ENST00000367010.1	+	6	753	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	HHAT_ENST00000308852.6_Missense_Mutation_p.R131C|HHAT_ENST00000545781.1_Missense_Mutation_p.R113C|HHAT_ENST00000413764.2_Missense_Mutation_p.R176C|HHAT_ENST00000545154.1_Missense_Mutation_p.R177C|HHAT_ENST00000537898.1_Missense_Mutation_p.R111C|HHAT_ENST00000261458.3_Missense_Mutation_p.R176C|HHAT_ENST00000391905.3_Missense_Mutation_p.R176C|HHAT_ENST00000541565.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	176					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.R176C(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCTGACCGTTCGCTGCCTGTA	0.532													C|||	6	0.00119808	0.0	0.0	5008	,	,		20175	0.0		0.0	False		,,,				2504	0.0061				p.R176C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C526T	1						.						105.0	87.0	93.0					1																	210577865		2203	4300	6503	208644488	SO:0001583	missense	55733	exon6			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.526C>T	1.37:g.210577865C>T	ENSP00000355977:p.Arg176Cys	Somatic		Capture	Illumina HiSeq	Phase_I	208644488	NM_018194	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650869	0.67472	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.74209	-0.75;-0.75;-0.82;-0.75;-0.75;-0.75;-0.75;-0.75;-0.82	5.54	5.54	0.83059	.	0.052004	0.85682	D	0.000000	T	0.61413	0.2345	N	0.19112	0.55	0.51767	D	0.999937	P;B;P;P	0.49090	0.721;0.295;0.919;0.849	B;B;B;B	0.38020	0.167;0.048;0.263;0.221	T	0.65010	-0.6272	10	0.38643	T	0.18	-26.9703	19.1127	0.93323	0.0:1.0:0.0:0.0	.	131;177;111;176	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	C	176;177;111;176;113;176;131;176;48	ENSP00000416845:R176C;ENSP00000438468:R177C;ENSP00000442625:R111C;ENSP00000375773:R176C;ENSP00000439229:R113C;ENSP00000261458:R176C;ENSP00000308628:R131C;ENSP00000355977:R176C;ENSP00000413399:R48C	ENSP00000261458:R176C	R	+	1	0	HHAT	208644488	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	4.834000	0.62774	2.605000	0.88082	0.591000	0.81541	CGC		0.532	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	
KCNH1	3756	broad.mit.edu	37	1	211307231	211307231	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:211307231C>A	ENST00000271751.4	-	1	84	c.57G>T	c.(55-57)gaG>gaT	p.E19D	KCNH1-IT1_ENST00000438597.1_RNA|KCNH1_ENST00000367007.4_Missense_Mutation_p.E19D			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	19	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.E19D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACAATATTCTCCAGAAACG	0.602											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E19D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G57T	1						.						104.0	111.0	109.0					1																	211307231		2203	4300	6503	209373854	SO:0001583	missense	3756	exon1			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.57G>T	1.37:g.211307231C>A	ENSP00000271751:p.Glu19Asp	Somatic	2197	Capture	Illumina HiSeq	Phase_I	209373854	NM_002238	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694037	0.30052	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98901	-5.15;-5.22	4.94	4.03	0.46877	PAS (3);	0.122230	0.53938	D	0.000045	D	0.95230	0.8453	L	0.28274	0.84	0.58432	D	0.999998	B;B	0.32731	0.195;0.382	B;B	0.32393	0.145;0.145	D	0.93140	0.6540	10	0.16896	T	0.51	.	10.9204	0.47161	0.0:0.9075:0.0:0.0925	.	19;19	Q14CL3;O95259	.;KCNH1_HUMAN	D	19	ENSP00000271751:E19D;ENSP00000355974:E19D	ENSP00000271751:E19D	E	-	3	2	KCNH1	209373854	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.547000	0.45786	1.073000	0.40885	0.591000	0.81541	GAG		0.602	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
INTS7	25896	broad.mit.edu	37	1	212156032	212156032	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:212156032G>T	ENST00000366994.3	-	9	1222	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	INTS7_ENST00000366993.3_Missense_Mutation_p.S373Y|INTS7_ENST00000440600.2_Missense_Mutation_p.S324Y|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S373Y	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	373					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.S373Y(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTCTTGACAAGAAACAGTTAT	0.348																																					p.S324Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971A	1						.						98.0	95.0	96.0					1																	212156032		2203	4299	6502	210222655	SO:0001583	missense	25896	exon8			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1118C>A	1.37:g.212156032G>T	ENSP00000355961:p.Ser373Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	210222655	NM_001199809	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	6.883	0.532369	0.13127	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.12	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.048675	0.85682	D	0.000000	T	0.48150	0.1484	N	0.10874	0.06	0.58432	D	0.999995	B;B;B;B	0.32829	0.386;0.386;0.386;0.386	B;B;B;B	0.34242	0.125;0.178;0.125;0.124	T	0.50642	-0.8804	10	0.02654	T	1	-19.0742	20.1346	0.98019	0.0:0.0:1.0:0.0	.	324;373;373;373	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	Y	373;373;373;324	ENSP00000355961:S373Y;ENSP00000355960:S373Y;ENSP00000355959:S373Y;ENSP00000388908:S324Y	ENSP00000355959:S373Y	S	-	2	0	INTS7	210222655	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.265000	0.78442	2.765000	0.95021	0.655000	0.94253	TCT		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
FAM71A	149647	broad.mit.edu	37	1	212798648	212798648	+	Silent	SNP	C	C	T	rs111491824	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:212798648C>T	ENST00000294829.3	+	1	860	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	143						nucleus (GO:0005634)		p.F143F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCCTGAAGTTCGCCACTGGCA	0.507													T|||	54	0.0107827	0.0401	0.0014	5008	,	,		23286	0.0		0.0	False		,,,				2504	0.0				p.F143F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	1						.	T		149,4257	812.7+/-416.1	3,143,2057	104.0	108.0	107.0		429	-9.1	0.4	1	dbSNP_132	107	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	FAM71A	NM_153606.3		3,144,6356	TT,TC,CC		0.0116,3.3818,1.1533		143/595	212798648	150,12856	2203	4300	6503	210865271	SO:0001819	synonymous_variant	149647	exon1				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.429C>T	1.37:g.212798648C>T		Somatic		Capture	Illumina HiSeq	Phase_I	210865271	NM_153606	Q5VTZ1	Silent	SNP	ENST00000294829.3	37	CCDS1507.1																																																																																				0.507	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606	
RPS6KC1	26750	broad.mit.edu	37	1	213414329	213414329	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:213414329T>G	ENST00000366960.3	+	11	1660	c.1510T>G	c.(1510-1512)Tca>Gca	p.S504A	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S292A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S207A|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S492A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	504					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.S504A(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGGTTCAAGTTCAGAAGAAGA	0.413																																					p.S504A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1510G	1						.						60.0	60.0	60.0					1																	213414329		2203	4300	6503	211480952	SO:0001583	missense	26750	exon11			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1510T>G	1.37:g.213414329T>G	ENSP00000355927:p.Ser504Ala	Somatic		Capture	Illumina HiSeq	Phase_I	211480952	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761903	0.69763	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.65916	0.31;0.58;0.62;-0.18	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.78285	0.4259	M	0.71581	2.175	0.58432	D	0.99999	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.80764	0.994;0.99;0.99	T	0.80774	-0.1232	10	0.72032	D	0.01	-18.4748	15.7631	0.78103	0.0:0.0:0.0:1.0	.	292;504;492	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	A	292;504;492;207	ENSP00000442306:S292A;ENSP00000355927:S504A;ENSP00000355926:S492A;ENSP00000439282:S207A	ENSP00000355926:S492A	S	+	1	0	RPS6KC1	211480952	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	7.434000	0.80377	2.126000	0.65437	0.377000	0.23210	TCA		0.413	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
CENPF	1063	broad.mit.edu	37	1	214814828	214814828	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:214814828G>T	ENST00000366955.3	+	12	3315	c.3147G>T	c.(3145-3147)aaG>aaT	p.K1049N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K1049N(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CACAGGAAAAGAATTCTAAAT	0.338																																					p.K1049N	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3147T	1						.						48.0	53.0	51.0					1																	214814828		2202	4300	6502	212881451	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3147G>T	1.37:g.214814828G>T	ENSP00000355922:p.Lys1049Asn	Somatic		Capture	Illumina HiSeq	Phase_I	212881451	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	4.144	0.025178	0.08054	.	.	ENSG00000117724	ENST00000366955	T	0.03386	3.95	4.86	2.9	0.33743	.	0.417759	0.17666	N	0.166154	T	0.02418	0.0074	.	.	.	0.26524	N	0.974383	B	0.30824	0.296	B	0.19946	0.027	T	0.44329	-0.9335	9	0.31617	T	0.26	.	7.1563	0.25639	0.1466:0.173:0.6804:0.0	.	1049	P49454	CENPF_HUMAN	N	1049	ENSP00000355922:K1049N	ENSP00000355922:K1049N	K	+	3	2	CENPF	212881451	1.000000	0.71417	0.999000	0.59377	0.484000	0.33280	0.775000	0.26689	1.130000	0.42092	0.609000	0.83330	AAG		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214815908	214815908	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:214815908G>T	ENST00000366955.3	+	12	4395	c.4227G>T	c.(4225-4227)gaG>gaT	p.E1409D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1409D(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AATTGCAAGAGAAATTCTTAT	0.398																																					p.E1409D	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4227T	1						.						38.0	38.0	38.0					1																	214815908		2203	4300	6503	212882531	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4227G>T	1.37:g.214815908G>T	ENSP00000355922:p.Glu1409Asp	Somatic		Capture	Illumina HiSeq	Phase_I	212882531	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	3.357	-0.131246	0.06753	.	.	ENSG00000117724	ENST00000366955	T	0.04970	3.52	4.49	-0.313	0.12754	.	0.250947	0.20942	N	0.082913	T	0.03871	0.0109	.	.	.	0.27261	N	0.958625	B	0.32918	0.39	B	0.32762	0.152	T	0.41233	-0.9520	9	0.27082	T	0.32	.	6.2944	0.21077	0.244:0.4208:0.3352:0.0	.	1409	P49454	CENPF_HUMAN	D	1409	ENSP00000355922:E1409D	ENSP00000355922:E1409D	E	+	3	2	CENPF	212882531	0.998000	0.40836	0.983000	0.44433	0.109000	0.19521	0.355000	0.20163	0.330000	0.23485	-0.192000	0.12808	GAG		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214825193	214825193	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:214825193G>T	ENST00000366955.3	+	15	8292	c.8124G>T	c.(8122-8124)aaG>aaT	p.K2708N	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2804	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K2708N(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGCTGAAAAGAAACACCAGG	0.443																																					p.K2708N	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8124T	1						.						93.0	98.0	96.0					1																	214825193		2203	4300	6503	212891816	SO:0001583	missense	1063	exon15			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8124G>T	1.37:g.214825193G>T	ENSP00000355922:p.Lys2708Asn	Somatic		Capture	Illumina HiSeq	Phase_I	212891816	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	9.619	1.133342	0.21041	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03553	3.89	3.67	2.73	0.32206	.	.	.	.	.	T	0.03477	0.0100	L	0.33485	1.01	0.19300	N	0.99998	B	0.12013	0.005	B	0.08055	0.003	T	0.40646	-0.9552	9	0.42905	T	0.14	.	6.6703	0.23064	0.0:0.1989:0.5965:0.2046	.	2804	P49454	CENPF_HUMAN	N	2708;107	ENSP00000355922:K2708N	ENSP00000355922:K2708N	K	+	3	2	CENPF	212891816	0.998000	0.40836	0.326000	0.25389	0.941000	0.58515	0.261000	0.18442	0.646000	0.30693	0.609000	0.83330	AAG		0.443	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
USH2A	7399	broad.mit.edu	37	1	215953310	215953310	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:215953310G>T	ENST00000307340.3	-	55	11200	c.10814C>A	c.(10813-10815)gCt>gAt	p.A3605D	USH2A_ENST00000366943.2_Missense_Mutation_p.A3605D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3605	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A3605D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGATGCAGAGCCACTGCACT	0.512										HNSCC(13;0.011)																											p.A3605D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10814A	1						.						152.0	121.0	132.0					1																	215953310		2203	4300	6503	214019933	SO:0001583	missense	7399	exon55			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10814C>A	1.37:g.215953310G>T	ENSP00000305941:p.Ala3605Asp	Somatic		Capture	Illumina HiSeq	Phase_I	214019933	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504602	0.44558	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57273	0.41;0.41	6.01	3.77	0.43336	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.973223	0.08363	N	0.957473	T	0.67869	0.2939	M	0.87269	2.87	0.09310	N	1	P	0.47841	0.901	P	0.49999	0.628	T	0.56805	-0.7918	10	0.36615	T	0.2	.	12.0227	0.53352	0.0717:0.0:0.8044:0.124	.	3605	O75445	USH2A_HUMAN	D	3605	ENSP00000305941:A3605D;ENSP00000355910:A3605D	ENSP00000305941:A3605D	A	-	2	0	USH2A	214019933	0.696000	0.27757	0.006000	0.13384	0.717000	0.41224	4.493000	0.60341	1.492000	0.48499	0.650000	0.86243	GCT		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216051107	216051107	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216051107G>T	ENST00000307340.3	-	43	9060	c.8674C>A	c.(8674-8676)Ctt>Att	p.L2892I	USH2A_ENST00000366943.2_Missense_Mutation_p.L2892I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2892	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L2892I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCTGCTAAGACCCTTATCT	0.388										HNSCC(13;0.011)																											p.L2892I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8674A	1						.						212.0	227.0	222.0					1																	216051107		2203	4300	6503	214117730	SO:0001583	missense	7399	exon43			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8674C>A	1.37:g.216051107G>T	ENSP00000305941:p.Leu2892Ile	Somatic		Capture	Illumina HiSeq	Phase_I	214117730	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957109	0.92726	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.84516	-1.86;-1.86	5.9	5.9	0.94986	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001056	D	0.93015	0.7777	M	0.80746	2.51	0.58432	D	0.999992	D	0.89917	1.0	D	0.74348	0.983	D	0.93052	0.6466	10	0.87932	D	0	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	2892	O75445	USH2A_HUMAN	I	2892	ENSP00000305941:L2892I;ENSP00000355910:L2892I	ENSP00000305941:L2892I	L	-	1	0	USH2A	214117730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.198000	0.94994	2.802000	0.96397	0.650000	0.86243	CTT		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216062063	216062063	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216062063G>T	ENST00000307340.3	-	41	8314	c.7928C>A	c.(7927-7929)tCt>tAt	p.S2643Y	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S2643Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2643	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S2643Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTTGCCAAGATATAATCAC	0.507										HNSCC(13;0.011)																											p.S2643Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7928A	1						.						78.0	85.0	83.0					1																	216062063		2203	4300	6503	214128686	SO:0001583	missense	7399	exon41			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7928C>A	1.37:g.216062063G>T	ENSP00000305941:p.Ser2643Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	214128686	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293229	0.80914	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61742	0.08;0.08	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168676	0.28140	N	0.016458	T	0.74245	0.3691	M	0.75264	2.295	0.42123	D	0.99143	D	0.61697	0.99	D	0.66847	0.947	T	0.76688	-0.2867	10	0.62326	D	0.03	.	14.4174	0.67160	0.0:0.0:0.8526:0.1474	.	2643	O75445	USH2A_HUMAN	Y	2643	ENSP00000305941:S2643Y;ENSP00000355910:S2643Y	ENSP00000305941:S2643Y	S	-	2	0	USH2A	214128686	1.000000	0.71417	0.948000	0.38648	0.955000	0.61496	5.895000	0.69814	2.611000	0.88343	0.655000	0.94253	TCT		0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ECE1	1889	broad.mit.edu	37	1	21560101	21560101	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:21560101G>T	ENST00000374893.6	-	14	1694	c.1620C>A	c.(1618-1620)ttC>ttA	p.F540L	ECE1_ENST00000436918.2_Missense_Mutation_p.F540L|ECE1_ENST00000357071.4_Missense_Mutation_p.F528L|ECE1_ENST00000264205.6_Missense_Mutation_p.F537L|ECE1_ENST00000415912.2_Missense_Mutation_p.F524L	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	540					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCCTCCATGAGAAGTTGAAAA	0.547																																					p.F524L												.	.	0			c.C1572A	1						.						62.0	67.0	66.0					1																	21560101		2203	4300	6503	21432688	SO:0001583	missense	1889	exon14			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1620C>A	1.37:g.21560101G>T	ENSP00000364028:p.Phe540Leu	None		Capture	Illumina HiSeq	Phase_I	21432688	NM_001113348	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380752	0.95945	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	0.992;1.0;0.994;1.0;1.0	P;D;P;D;D	0.97110	0.805;0.999;0.893;1.0;1.0	D	0.93769	0.7073	10	0.87932	D	0	-31.5324	17.6527	0.88169	0.0:0.0:1.0:0.0	.	540;524;540;528;537	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	L	524;528;540;540;537	ENSP00000405088:F524L;ENSP00000349581:F528L;ENSP00000364028:F540L;ENSP00000388439:F540L;ENSP00000264205:F537L	ENSP00000264205:F537L	F	-	3	2	ECE1	21432688	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.375000	0.66173	2.527000	0.85204	0.655000	0.94253	TTC		0.547	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
USH2A	7399	broad.mit.edu	37	1	216138672	216138672	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216138672G>T	ENST00000307340.3	-	37	7493	c.7107C>A	c.(7105-7107)ttC>ttA	p.F2369L	USH2A_ENST00000366943.2_Missense_Mutation_p.F2369L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2369	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F2369L(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTCTACATAGAATATCCCAG	0.358										HNSCC(13;0.011)																											p.F2369L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7107A	1						.						104.0	104.0	104.0					1																	216138672		2203	4300	6503	214205295	SO:0001583	missense	7399	exon37			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7107C>A	1.37:g.216138672G>T	ENSP00000305941:p.Phe2369Leu	Somatic		Capture	Illumina HiSeq	Phase_I	214205295	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429809	0.43122	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.51071	0.72;0.72	5.56	5.56	0.83823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000228	T	0.63462	0.2513	M	0.74258	2.255	0.35907	D	0.830799	D	0.69078	0.997	D	0.75020	0.985	T	0.65948	-0.6044	10	0.21014	T	0.42	.	10.3588	0.43980	0.1461:0.0:0.8539:0.0	.	2369	O75445	USH2A_HUMAN	L	2369	ENSP00000305941:F2369L;ENSP00000355910:F2369L	ENSP00000305941:F2369L	F	-	3	2	USH2A	214205295	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	3.059000	0.49947	2.778000	0.95560	0.655000	0.94253	TTC		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ECE1	1889	broad.mit.edu	37	1	21571562	21571562	+	Missense_Mutation	SNP	G	G	A	rs372113894		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:21571562G>A	ENST00000374893.6	-	10	1272	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ECE1_ENST00000436918.2_Missense_Mutation_p.R400W|ECE1_ENST00000357071.4_Missense_Mutation_p.R388W|ECE1_ENST00000264205.6_Missense_Mutation_p.R397W|ECE1_ENST00000415912.2_Missense_Mutation_p.R384W|ECE1_ENST00000528294.1_5'UTR	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	400					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.R400W(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTTGTTTTCCGCACCAGGTTC	0.572											OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R384W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1150T	1						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	126.0	103.0	111.0		1162,1150,1189,1198	4.6	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ECE1	NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	388/759,384/755,397/768,400/771	21571562	1,13005	2203	4300	6503	21444149	SO:0001583	missense	1889	exon10			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1198C>T	1.37:g.21571562G>A	ENSP00000364028:p.Arg400Trp	Somatic	749	Capture	Illumina HiSeq	Phase_I	21444149	NM_001113348	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873973	0.72180	0.0	1.16E-4	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.55	4.57	0.56435	Peptidase M13 (1);	0.048391	0.85682	D	0.000000	D	0.85106	0.5621	M	0.78285	2.405	0.80722	D	1	B;D;P;D;D	0.89917	0.136;1.0;0.528;1.0;1.0	B;D;B;D;D	0.69307	0.038;0.963;0.078;0.938;0.938	D	0.87081	0.2166	10	0.87932	D	0	-36.4203	14.0517	0.64742	0.0:0.0:0.7585:0.2415	.	400;384;400;388;397	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	W	384;388;400;400;397	ENSP00000405088:R384W;ENSP00000349581:R388W;ENSP00000364028:R400W;ENSP00000388439:R400W;ENSP00000264205:R397W	ENSP00000264205:R397W	R	-	1	2	ECE1	21444149	0.016000	0.18221	1.000000	0.80357	0.940000	0.58332	0.348000	0.20031	1.296000	0.44742	0.561000	0.74099	CGG		0.572	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
USH2A	7399	broad.mit.edu	37	1	216371876	216371876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216371876C>A	ENST00000307340.3	-	18	4248	c.3862G>T	c.(3862-3864)Gaa>Taa	p.E1288*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.E1288*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.E1288*|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1288	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E1288*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGTGGTTTCTTTAGTAGAT	0.368										HNSCC(13;0.011)																											p.E1288X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3862T	1						.						96.0	93.0	94.0					1																	216371876		2203	4300	6503	214438499	SO:0001587	stop_gained	7399	exon18			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3862G>T	1.37:g.216371876C>A	ENSP00000305941:p.Glu1288*	Somatic		Capture	Illumina HiSeq	Phase_I	214438499	NM_206933	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	44	10.573227	0.99430	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.16	4.24	0.50183	.	0.359675	0.19728	U	0.107429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	7.5086	0.27560	0.0:0.7153:0.1393:0.1454	.	.	.	.	X	1288	.	ENSP00000305941:E1288X	E	-	1	0	USH2A	214438499	0.018000	0.18449	0.328000	0.25416	0.603000	0.37013	0.921000	0.28718	1.159000	0.42565	0.650000	0.86243	GAA		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216465586	216465586	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216465586C>A	ENST00000307340.3	-	10	2157	c.1771G>T	c.(1771-1773)Gac>Tac	p.D591Y	USH2A_ENST00000366942.3_Missense_Mutation_p.D591Y|USH2A_ENST00000366943.2_Missense_Mutation_p.D591Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	591	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D591Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAAATGGGTCTACAGAGATG	0.423										HNSCC(13;0.011)																											p.D591Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1771T	1						.						150.0	135.0	140.0					1																	216465586		2203	4300	6503	214532209	SO:0001583	missense	7399	exon10			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1771G>T	1.37:g.216465586C>A	ENSP00000305941:p.Asp591Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	214532209	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138324	0.56936	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.21191	2.42;2.41;2.02	4.81	4.81	0.61882	EGF-like, laminin (3);	0.000000	0.43919	U	0.000507	T	0.39064	0.1064	L	0.39633	1.23	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.968;1.0	T	0.12785	-1.0534	10	0.45353	T	0.12	.	17.9009	0.88904	0.0:1.0:0.0:0.0	.	591;591	O75445-2;O75445	.;USH2A_HUMAN	Y	591	ENSP00000305941:D591Y;ENSP00000355910:D591Y;ENSP00000355909:D591Y	ENSP00000305941:D591Y	D	-	1	0	USH2A	214532209	1.000000	0.71417	0.785000	0.31869	0.309000	0.27889	5.209000	0.65208	2.230000	0.72887	0.467000	0.42956	GAC		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216538404	216538404	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216538404G>T	ENST00000307340.3	-	4	1061	c.675C>A	c.(673-675)ttC>ttA	p.F225L	USH2A_ENST00000366942.3_Missense_Mutation_p.F225L|USH2A_ENST00000366943.2_Missense_Mutation_p.F225L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	225					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F225L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTGATAAAGAAGCTGATTT	0.333										HNSCC(13;0.011)																											p.F225L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C675A	1						.						122.0	114.0	117.0					1																	216538404		2203	4300	6503	214605027	SO:0001583	missense	7399	exon4			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.675C>A	1.37:g.216538404G>T	ENSP00000305941:p.Phe225Leu	Somatic		Capture	Illumina HiSeq	Phase_I	214605027	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312862	0.40895	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.68765	-0.35;-0.35;-0.35	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.45126	U	0.000389	T	0.62660	0.2446	L	0.34521	1.04	0.38784	D	0.954836	B;P	0.52463	0.015;0.953	B;P	0.49752	0.007;0.621	T	0.63625	-0.6595	10	0.33940	T	0.23	.	12.7011	0.57034	0.0753:0.0:0.9247:0.0	.	225;225	O75445-2;O75445	.;USH2A_HUMAN	L	225	ENSP00000305941:F225L;ENSP00000355910:F225L;ENSP00000355909:F225L	ENSP00000305941:F225L	F	-	3	2	USH2A	214605027	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.232000	0.58645	2.580000	0.87095	0.591000	0.81541	TTC		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216595488	216595488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:216595488C>T	ENST00000307340.3	-	2	577	c.191G>A	c.(190-192)aGc>aAc	p.S64N	USH2A_ENST00000366942.3_Missense_Mutation_p.S64N|USH2A_ENST00000366943.2_Missense_Mutation_p.S64N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	64					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S64N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAAAAAGTGCTTCGGTCTGG	0.493										HNSCC(13;0.011)																											p.S64N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	1						.						99.0	98.0	99.0					1																	216595488		2203	4300	6503	214662111	SO:0001583	missense	7399	exon2			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.191G>A	1.37:g.216595488C>T	ENSP00000305941:p.Ser64Asn	Somatic		Capture	Illumina HiSeq	Phase_I	214662111	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827720	0.32329	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19938	2.56;2.56;2.11	5.27	4.36	0.52297	.	0.124550	0.35615	N	0.003090	T	0.20088	0.0483	L	0.39245	1.2	0.47476	D	0.99943	B;B	0.20052	0.033;0.041	B;B	0.23018	0.043;0.028	T	0.02721	-1.1119	10	0.52906	T	0.07	.	13.8817	0.63686	0.0:0.9262:0.0:0.0738	.	64;64	O75445-2;O75445	.;USH2A_HUMAN	N	64	ENSP00000305941:S64N;ENSP00000355910:S64N;ENSP00000355909:S64N	ENSP00000305941:S64N	S	-	2	0	USH2A	214662111	0.996000	0.38824	0.310000	0.25168	0.353000	0.29299	2.016000	0.40971	1.230000	0.43646	0.591000	0.81541	AGC		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
TGFB2	7042	broad.mit.edu	37	1	218578556	218578556	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:218578556G>A	ENST00000366930.4	+	2	859	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	TGFB2_ENST00000366929.4_Missense_Mutation_p.R159Q	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	131					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R131Q(1)|p.R159Q(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGAATTGTTCGATTTGACGTC	0.418																																					p.R131Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G392A	1						.						234.0	226.0	228.0					1																	218578556		2203	4300	6503	216645179	SO:0001583	missense	7042	exon2			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.392G>A	1.37:g.218578556G>A	ENSP00000355897:p.Arg131Gln	Somatic		Capture	Illumina HiSeq	Phase_I	216645179	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532374	0.45073	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.64991	-0.13;-0.13	5.09	4.18	0.49190	Transforming growth factor-beta, N-terminal (1);	0.292022	0.31936	N	0.006822	T	0.68723	0.3032	L	0.48642	1.525	0.37260	D	0.906929	P;D;D	0.62365	0.858;0.991;0.984	P;P;P	0.60236	0.478;0.871;0.621	T	0.72191	-0.4365	10	0.40728	T	0.16	.	13.3281	0.60471	0.0758:0.0:0.9242:0.0	.	159;131;160	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	Q	131;159	ENSP00000355897:R131Q;ENSP00000355896:R159Q	ENSP00000355896:R159Q	R	+	2	0	TGFB2	216645179	0.993000	0.37304	0.987000	0.45799	0.940000	0.58332	2.410000	0.44592	1.142000	0.42291	0.650000	0.86243	CGA		0.418	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
RAP1GAP	5909	broad.mit.edu	37	1	21943906	21943906	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:21943906C>T	ENST00000374765.4	-	7	384	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E126K|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E62K|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.E62K|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E93K	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	62					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.E93K(1)|p.E62K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTGGTGATTTCGTGGTTGGTG	0.597																																					p.E62K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G184A	1						.						136.0	110.0	118.0					1																	21943906		2201	4300	6501	21816493	SO:0001583	missense	5909	exon7			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.184G>A	1.37:g.21943906C>T	ENSP00000363897:p.Glu62Lys	Somatic		Capture	Illumina HiSeq	Phase_I	21816493	NM_002885	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160890	0.57368	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757;ENST00000317967	D;D;D;D;T	0.89270	-2.49;-2.48;-2.46;-2.47;1.46	4.65	4.65	0.58169	.	0.120265	0.53938	D	0.000041	T	0.81475	0.4830	L	0.41415	1.275	0.48696	D	0.999698	B;B;B;B	0.30326	0.276;0.152;0.022;0.152	B;B;B;B	0.19148	0.024;0.007;0.013;0.008	T	0.79612	-0.1731	10	0.45353	T	0.12	-25.8224	9.1236	0.36801	0.0:0.8984:0.0:0.1016	.	62;62;93;62	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	K	126;93;62;62;93;62;126;204;62	ENSP00000290101:E126K;ENSP00000363893:E93K;ENSP00000441661:E62K;ENSP00000363897:E62K;ENSP00000352739:E126K	ENSP00000290101:E126K	E	-	1	0	RAP1GAP	21816493	0.993000	0.37304	1.000000	0.80357	0.989000	0.77384	1.789000	0.38724	2.297000	0.77311	0.561000	0.74099	GAA		0.597	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	
TGFB2	7042	broad.mit.edu	37	1	218607469	218607469	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:218607469G>A	ENST00000366930.4	+	3	1023	c.556G>A	c.(556-558)Gac>Aac	p.D186N	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.D214N	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	186					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.D214N(1)|p.D186N(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCGCTACATCGACAGCAAAGT	0.453																																					p.D186N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G556A	1						.						192.0	185.0	187.0					1																	218607469		2203	4300	6503	216674092	SO:0001583	missense	7042	exon3			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.556G>A	1.37:g.218607469G>A	ENSP00000355897:p.Asp186Asn	Somatic		Capture	Illumina HiSeq	Phase_I	216674092	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859889	0.51482	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.68903	-0.36;-0.36	5.91	5.91	0.95273	Transforming growth factor-beta, N-terminal (1);	0.043008	0.85682	D	0.000000	T	0.63663	0.2530	L	0.45470	1.425	0.58432	D	0.99999	B;B	0.24368	0.102;0.059	B;B	0.24269	0.021;0.052	T	0.56420	-0.7982	10	0.28530	T	0.3	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	214;186	P61812-2;P61812	.;TGFB2_HUMAN	N	186;214	ENSP00000355897:D186N;ENSP00000355896:D214N	ENSP00000355896:D214N	D	+	1	0	TGFB2	216674092	1.000000	0.71417	0.970000	0.41538	0.912000	0.54170	7.552000	0.82192	2.808000	0.96608	0.655000	0.94253	GAC		0.453	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
IARS2	55699	broad.mit.edu	37	1	220312365	220312365	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:220312365C>T	ENST00000302637.5	+	18	2295	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	IARS2_ENST00000366922.1_Missense_Mutation_p.R659C|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	731					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.R731C(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAATACACTTCGCTTTCTTTT	0.343																																					p.R731C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2191T	1						.						122.0	118.0	119.0					1																	220312365		2203	4300	6503	218378988	SO:0001583	missense	55699	exon18			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2191C>T	1.37:g.220312365C>T	ENSP00000303279:p.Arg731Cys	Somatic		Capture	Illumina HiSeq	Phase_I	218378988	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104838	0.77096	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.20200	2.09;2.09	5.73	5.73	0.89815	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.049282	0.85682	D	0.000000	T	0.64271	0.2583	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.77094	-0.2715	10	0.87932	D	0	-14.731	20.2602	0.98440	0.0:1.0:0.0:0.0	.	731	Q9NSE4	SYIM_HUMAN	C	659;731	ENSP00000355889:R659C;ENSP00000303279:R731C	ENSP00000303279:R731C	R	+	1	0	IARS2	218378988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.621000	0.61233	2.861000	0.98227	0.655000	0.94253	CGC		0.343	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
USP48	84196	broad.mit.edu	37	1	22079135	22079135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:22079135C>A	ENST00000308271.9	-	5	1198	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	USP48_ENST00000400301.1_Nonsense_Mutation_p.E184*|USP48_ENST00000421625.2_Nonsense_Mutation_p.E184*|USP48_ENST00000529637.1_Nonsense_Mutation_p.E184*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	184	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.E184*(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTGAAAATTCTTGAGCATCC	0.323																																					p.E184X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G550T	1						.						59.0	60.0	60.0					1																	22079135		2203	4299	6502	21951722	SO:0001587	stop_gained	84196	exon5			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.550G>T	1.37:g.22079135C>A	ENSP00000309262:p.Glu184*	Somatic		Capture	Illumina HiSeq	Phase_I	21951722	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	43	9.872819	0.99284	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0874	0.93209	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000309262:E184X	E	-	1	0	USP48	21951722	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.732000	0.84908	2.762000	0.94881	0.467000	0.42956	GAA		0.323	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
MARK1	4139	broad.mit.edu	37	1	220826463	220826463	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:220826463C>T	ENST00000366917.4	+	16	2023	c.1757C>T	c.(1756-1758)gCt>gTt	p.A586V	MARK1_ENST00000366918.4_Missense_Mutation_p.A564V|MARK1_ENST00000402574.1_Missense_Mutation_p.A451V					MAP/microtubule affinity-regulating kinase 1									p.A586V(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGAGTGCCTGCTGCTTCCCCA	0.458																																					p.A586V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1757T	1						.						80.0	68.0	72.0					1																	220826463		2203	4300	6503	218893086	SO:0001583	missense	4139	exon16			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1757C>T	1.37:g.220826463C>T	ENSP00000355884:p.Ala586Val	Somatic		Capture	Illumina HiSeq	Phase_I	218893086	NM_018650		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035333	0.35893	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.26067	1.76;1.76;1.76	4.64	4.64	0.57946	.	0.185194	0.48767	D	0.000176	T	0.11367	0.0277	N	0.04275	-0.24	0.39521	D	0.968514	B;B;B;B	0.16166	0.001;0.001;0.016;0.016	B;B;B;B	0.15484	0.002;0.004;0.003;0.013	T	0.18241	-1.0343	10	0.15952	T	0.53	.	11.3957	0.49841	0.0:0.9155:0.0:0.0845	.	586;451;586;564	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	V	451;564;586	ENSP00000386017:A451V;ENSP00000355885:A564V;ENSP00000355884:A586V	ENSP00000355884:A586V	A	+	2	0	MARK1	218893086	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	4.487000	0.60293	2.267000	0.75376	0.462000	0.41574	GCT		0.458	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
MIA3	375056	broad.mit.edu	37	1	222803614	222803614	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:222803614C>A	ENST00000344922.5	+	4	3077	c.3052C>A	c.(3052-3054)Ctt>Att	p.L1018I	MIA3_ENST00000344441.6_Missense_Mutation_p.L1018I|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1018					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L1018I(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGCTGCAGTGCTTGATGACAT	0.438																																					p.L1018I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3052A	1						.						118.0	114.0	115.0					1																	222803614		1966	4164	6130	220870237	SO:0001583	missense	375056	exon4				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3052C>A	1.37:g.222803614C>A	ENSP00000340900:p.Leu1018Ile	Somatic		Capture	Illumina HiSeq	Phase_I	220870237	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.75|19.75	3.884922|3.884922	0.72410|0.72410	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.14640	.|2.49;2.49	5.25|5.25	2.29|2.29	0.28610|0.28610	.|.	.|.	.|.	.|.	.|.	T|T	0.30916|0.30916	0.0780|0.0780	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	.|D;D	.|0.67145	.|0.98;0.996	.|P;D	.|0.66847	.|0.766;0.947	T|T	0.07712|0.07712	-1.0758|-1.0758	5|9	.|0.66056	.|D	.|0.02	.|.	6.0748|6.0748	0.19909|0.19909	0.3198:0.5281:0.0:0.152|0.3198:0.5281:0.0:0.152	.|.	.|1018;1018	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	D|I	600|1018	.|ENSP00000340900:L1018I;ENSP00000340587:L1018I	.|ENSP00000325973:L1018I	A|L	+|+	2|1	0|0	MIA3|MIA3	220870237|220870237	0.999000|0.999000	0.42202|0.42202	0.003000|0.003000	0.11579|0.11579	0.673000|0.673000	0.39480|0.39480	0.883000|0.883000	0.28200|0.28200	0.284000|0.284000	0.22305|0.22305	0.462000|0.462000	0.41574|0.41574	GCT|CTT		0.438	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
TLR5	7100	broad.mit.edu	37	1	223284961	223284961	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:223284961C>A	ENST00000540964.1	-	4	1874	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	TLR5_ENST00000342210.6_Missense_Mutation_p.E471D			O60602	TLR5_HUMAN	toll-like receptor 5	471			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.E471D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCTGGGATTCTCTGAAGGGG	0.423																																					p.E471D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1413T	1						.						79.0	81.0	80.0					1																	223284961		2203	4300	6503	221351584	SO:0001583	missense	7100	exon6				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1413G>T	1.37:g.223284961C>A	ENSP00000440643:p.Glu471Asp	Somatic		Capture	Illumina HiSeq	Phase_I	221351584	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	5.631	0.301120	0.10678	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.24350	1.86;1.86;1.86	5.49	2.63	0.31362	.	1.217830	0.05387	N	0.538339	T	0.28200	0.0696	M	0.61703	1.905	0.20074	N	0.999932	B	0.06786	0.001	B	0.08055	0.003	T	0.28902	-1.0029	10	0.31617	T	0.26	.	7.5334	0.27695	0.0:0.5435:0.0:0.4565	.	471	O60602	TLR5_HUMAN	D	471	ENSP00000440643:E471D;ENSP00000355846:E471D;ENSP00000340089:E471D	ENSP00000340089:E471D	E	-	3	2	TLR5	221351584	0.146000	0.22672	0.007000	0.13788	0.428000	0.31595	1.010000	0.29898	0.294000	0.22547	0.650000	0.86243	GAG		0.423	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
SUSD4	55061	broad.mit.edu	37	1	223396760	223396760	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:223396760C>T	ENST00000343846.3	-	7	1908	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	SUSD4_ENST00000366878.4_Silent_p.G425G|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.G425G|SUSD4_ENST00000454695.2_Silent_p.G265G|SUSD4_ENST00000484758.2_Silent_p.G356G			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	425						integral component of membrane (GO:0016021)		p.G425G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TTTCTGACTCCCCTGGGCCTG	0.637																																					p.G425G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1275A	1						.						40.0	45.0	44.0					1																	223396760		1978	4155	6133	221463383	SO:0001819	synonymous_variant	55061	exon8			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1275G>A	1.37:g.223396760C>T		Somatic		Capture	Illumina HiSeq	Phase_I	221463383	NM_017982	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	9.641	1.139018	0.21205	.	.	ENSG00000143502	ENST00000271787	.	.	.	5.16	2.16	0.27623	.	0.000000	0.50627	D	0.000103	T	0.44664	0.1304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22347	-1.0219	6	0.31617	T	0.26	-15.4006	2.5782	0.04812	0.1307:0.5201:0.1271:0.2221	.	.	.	.	E	200	.	ENSP00000271787:G200E	G	-	2	0	SUSD4	221463383	0.005000	0.15991	0.992000	0.48379	0.893000	0.52053	0.029000	0.13666	0.171000	0.19730	0.655000	0.94253	GGG		0.637	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982	
CAPN2	824	broad.mit.edu	37	1	223958167	223958167	+	Missense_Mutation	SNP	G	G	A	rs144592508	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:223958167G>A	ENST00000295006.5	+	18	2152	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	CAPN2_ENST00000433674.2_Missense_Mutation_p.D537N|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	615	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CCGAGAAATCGACGTTGACAG	0.418													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19824	0.0		0.0	False		,,,				2504	0.0				p.D615N												.	.	0			c.G1843A	1						.	G	ASN/ASP,ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	84.0	77.0	79.0		1609,1843	5.3	1.0	1	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense	CAPN2	NM_001146068.1,NM_001748.4	23,23	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	537/623,615/701	223958167	3,13003	2203	4300	6503	222024790	SO:0001583	missense	824	exon18			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1843G>A	1.37:g.223958167G>A	ENSP00000295006:p.Asp615Asn	None		Capture	Illumina HiSeq	Phase_I	222024790	NM_001748	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852421	0.91355	6.81E-4	0.0	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	T;T	0.74526	-0.85;-0.85	5.35	5.35	0.76521	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	M	0.86953	2.85	0.80722	D	1	P;D;D	0.89917	0.949;1.0;1.0	P;D;D	0.85130	0.563;0.996;0.997	D	0.89946	0.4076	10	0.72032	D	0.01	.	17.2725	0.87106	0.0:0.0:1.0:0.0	.	537;198;615	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	N	537;615;644	ENSP00000413158:D537N;ENSP00000295006:D615N	ENSP00000295006:D615N	D	+	1	0	CAPN2	222024790	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.298000	0.78815	2.503000	0.84419	0.655000	0.94253	GAC		0.418	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
NVL	4931	broad.mit.edu	37	1	224499549	224499549	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:224499549T>G	ENST00000281701.6	-	5	554	c.295A>C	c.(295-297)Agc>Cgc	p.S99R	NVL_ENST00000482491.1_Intron|NVL_ENST00000468673.1_5'Flank|NVL_ENST00000469075.1_Missense_Mutation_p.S99R|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000391875.2_5'UTR|NVL_ENST00000340871.4_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	99						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S99R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCAGAATAGCTTTCAGTATAC	0.338																																					p.S99R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A295C	1						.						149.0	149.0	149.0					1																	224499549		2203	4300	6503	222566172	SO:0001583	missense	4931	exon5			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.295A>C	1.37:g.224499549T>G	ENSP00000281701:p.Ser99Arg	Somatic		Capture	Illumina HiSeq	Phase_I	222566172	NM_002533	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.292|8.292	0.818063|0.818063	0.16607|0.16607	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546	.|D;D;T	.|0.95137	.|-3.52;-3.62;1.48	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.273316	.|0.40554	.|N	.|0.001071	D|D	0.91845|0.91845	0.7419|0.7419	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45902	.|0.718;0.868	.|B;B	.|0.36885	.|0.235;0.23	D|D	0.90855|0.90855	0.4734|0.4734	5|10	.|0.34782	.|T	.|0.22	-6.9828|-6.9828	12.3122|12.3122	0.54935|0.54935	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|99;99	.|B4DP98;O15381	.|.;NVL_HUMAN	T|R	72|99;99;99;133	.|ENSP00000281701:S99R;ENSP00000417826:S99R;ENSP00000418085:S133R	.|ENSP00000281701:S99R	K|S	-|-	2|1	0|0	NVL|NVL	222566172|222566172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.318000|0.318000	0.28184|0.28184	3.545000|3.545000	0.53648|0.53648	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.338	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284																																					p.R123C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C367T	1						.						94.0	91.0	92.0					1																	227387341		2202	4295	6497	225453964	SO:0001583	missense	8476	exon4			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.367C>T	1.37:g.227387341G>A	ENSP00000355731:p.Arg123Cys	Somatic		Capture	Illumina HiSeq	Phase_I	225453964	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944970	0.92593	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	M	0.81179	2.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.981;0.998;0.99	D	0.85623	0.1265	10	0.87932	D	0	.	18.9977	0.92819	0.0:0.0:1.0:0.0	.	123;123;123;123	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	C	123	ENSP00000355731:R123C;ENSP00000355729:R123C;ENSP00000335341:R123C;ENSP00000355728:R123C;ENSP00000355726:R123C;ENSP00000443275:R123C;ENSP00000355727:R123C	ENSP00000335341:R123C	R	-	1	0	CDC42BPA	225453964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.561000	0.86390	0.655000	0.94253	CGT		0.284	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
SNAP47	116841	broad.mit.edu	37	1	227935443	227935443	+	Silent	SNP	C	C	T	rs202095982		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:227935443C>T	ENST00000366759.4	+	2	555	c.141C>T	c.(139-141)agC>agT	p.S47S	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.S47S|SNAP47-AS1_ENST00000413347.2_RNA	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	47					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.S47S(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AACAGATGAGCAGGGATGTCT	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20307	0.0		0.0	False		,,,				2504	0.0				p.S47S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C141T	1						.						82.0	66.0	72.0					1																	227935443		2203	4300	6503	226002066	SO:0001819	synonymous_variant	116841	exon2			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.141C>T	1.37:g.227935443C>T		Somatic		Capture	Illumina HiSeq	Phase_I	226002066	NM_053052	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Silent	SNP	ENST00000366759.4	37	CCDS1562.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.991	-0.208133	0.06180	.	.	ENSG00000143740	ENST00000426344	.	.	.	4.08	0.833	0.18875	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5496	8.0176	0.30389	0.0:0.6864:0.0:0.3136	.	.	.	.	X	39	.	.	Q	+	1	0	SNAP47	226002066	1.000000	0.71417	0.751000	0.31187	0.269000	0.26545	0.871000	0.28023	0.307000	0.22880	0.591000	0.81541	CAG		0.577	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052	
WNT9A	7483	broad.mit.edu	37	1	228111919	228111919	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:228111919C>T	ENST00000272164.5	-	3	545	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	179					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.V179I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AATTCCTTGACGAACTTGCTG	0.612																																					p.V179I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535A	1						.						117.0	110.0	112.0					1																	228111919		2203	4300	6503	226178542	SO:0001583	missense	7483	exon3			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.535G>A	1.37:g.228111919C>T	ENSP00000272164:p.Val179Ile	Somatic		Capture	Illumina HiSeq	Phase_I	226178542	NM_003395	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970690	0.53614	.	.	ENSG00000143816	ENST00000272164	T	0.75821	-0.97	4.78	4.78	0.61160	.	0.066150	0.64402	D	0.000011	T	0.65544	0.2701	L	0.36672	1.1	0.47374	D	0.999405	B	0.27997	0.197	B	0.28784	0.094	T	0.66779	-0.5837	10	0.56958	D	0.05	.	12.6785	0.56908	0.0:0.834:0.166:0.0	.	179	O14904	WNT9A_HUMAN	I	179	ENSP00000272164:V179I	ENSP00000272164:V179I	V	-	1	0	WNT9A	226178542	0.932000	0.31603	1.000000	0.80357	0.935000	0.57460	2.056000	0.41355	2.195000	0.70347	0.491000	0.48974	GTC		0.612	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395	
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T	rs570299277		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:228471427C>T	ENST00000422127.1	+	33	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000570156.2_Silent_p.C3416C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2987	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		18280	0.001		0.0	False		,,,				2504	0.0				p.C2987C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C8961T	1						.						47.0	54.0	51.0					1																	228471427		2071	4203	6274	226538050	SO:0001819	synonymous_variant	84033	exon33			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8961C>T	1.37:g.228471427C>T		Somatic		Capture	Illumina HiSeq	Phase_I	226538050	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228476552	228476552	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:228476552T>G	ENST00000422127.1	+	38	10346	c.10302T>G	c.(10300-10302)tgT>tgG	p.C3434W	OBSCN_ENST00000366709.4_Missense_Mutation_p.C553W|OBSCN_ENST00000284548.11_Missense_Mutation_p.C3434W|OBSCN_ENST00000366707.4_Missense_Mutation_p.C553W|OBSCN_ENST00000359599.6_Missense_Mutation_p.C2281W|OBSCN_ENST00000570156.2_Missense_Mutation_p.C3863W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3434	Ig-like 34.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.C3488W(1)|p.C3717W(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGTGTGTGGGGAGGAGA	0.612																																					p.C3434W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T10302G	1						.						108.0	124.0	119.0					1																	228476552		2182	4276	6458	226543175	SO:0001583	missense	84033	exon38			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10302T>G	1.37:g.228476552T>G	ENSP00000409493:p.Cys3434Trp	Somatic		Capture	Illumina HiSeq	Phase_I	226543175	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608660	0.66558	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.12	-1.98	0.07480	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342781	0.30695	N	0.009070	T	0.81153	0.4763	M	0.92122	3.275	0.48395	D	0.999646	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.78881	-0.2029	10	0.72032	D	0.01	.	7.6732	0.28470	0.0:0.283:0.106:0.6111	.	3434;3434	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	3434;3434;553;553;2281	ENSP00000284548:C3434W;ENSP00000409493:C3434W;ENSP00000355668:C553W;ENSP00000355670:C553W;ENSP00000352613:C2281W	ENSP00000284548:C3434W	C	+	3	2	OBSCN	226543175	0.000000	0.05858	0.981000	0.43875	0.817000	0.46193	-4.662000	0.00201	-0.372000	0.07992	0.402000	0.26972	TGT		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ZBTB40	9923	broad.mit.edu	37	1	22828002	22828002	+	Silent	SNP	C	C	T	rs577900930		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:22828002C>T	ENST00000375647.4	+	4	1056	c.849C>T	c.(847-849)ttC>ttT	p.F283F	ZBTB40_ENST00000404138.1_Silent_p.F283F|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	283					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.F283F(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGAAATGTTTCGAGGGTGAAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20063	0.0		0.001	False		,,,				2504	0.0				p.F283F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	1						.						115.0	106.0	109.0					1																	22828002		2203	4300	6503	22700589	SO:0001819	synonymous_variant	9923	exon4			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.849C>T	1.37:g.22828002C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22700589	NM_014870	O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	CCDS224.1																																																																																				0.453	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870	
ZBTB40	9923	broad.mit.edu	37	1	22835072	22835072	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:22835072C>A	ENST00000375647.4	+	8	1754	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	ZBTB40_ENST00000404138.1_Missense_Mutation_p.S516Y|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S404Y	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	516					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.S516Y(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTTTCAATTCTCTGATATCA	0.483																																					p.S516Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1547A	1						.						141.0	136.0	137.0					1																	22835072		2203	4300	6503	22707659	SO:0001583	missense	9923	exon8			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1547C>A	1.37:g.22835072C>A	ENSP00000364798:p.Ser516Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	22707659	NM_014870	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788794	0.70337	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.78364	-1.17;-1.17;-1.17	6.06	6.06	0.98353	.	0.370264	0.23400	N	0.048593	T	0.79902	0.4526	L	0.29908	0.895	0.41594	D	0.988816	P;P	0.52692	0.955;0.924	P;P	0.54312	0.748;0.564	T	0.81437	-0.0933	10	0.87932	D	0	-9.1426	19.1847	0.93639	0.0:1.0:0.0:0.0	.	404;516	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Y	516;516;404	ENSP00000384527:S516Y;ENSP00000364798:S516Y;ENSP00000363782:S404Y	ENSP00000363782:S404Y	S	+	2	0	ZBTB40	22707659	0.213000	0.23551	1.000000	0.80357	0.983000	0.72400	2.538000	0.45710	2.882000	0.98803	0.655000	0.94253	TCT		0.483	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870	
OBSCN	84033	broad.mit.edu	37	1	228558724	228558724	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:228558724C>T	ENST00000422127.1	+	94	20289	c.20245C>T	c.(20245-20247)Cgt>Tgt	p.R6749C	OBSCN_ENST00000366707.4_Splice_Site_p.R4383C|OBSCN_ENST00000570156.2_Splice_Site_p.R7706C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6749					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R7331C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGTTCCAGCGTTCCCTGAT	0.677																																					p.R6749C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C20245T	1						.						43.0	49.0	47.0					1																	228558724		2095	4213	6308	226625347	SO:0001630	splice_region_variant	84033	exon94			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20245-1C>T	1.37:g.228558724C>T		Somatic		Capture	Illumina HiSeq	Phase_I	226625347	NM_001098623	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.29|16.29	3.081387|3.081387	0.55753|0.55753	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.67523	.|-0.27;-0.24	4.9|4.9	3.94|3.94	0.45596|0.45596	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.75642|0.75642	0.3877|0.3877	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73708	.|0.981	T|T	0.74328|0.74328	-0.3701|-0.3701	5|8	.|.	.|.	.|.	.|.	14.681|14.681	0.69017|0.69017	0.1454:0.8546:0.0:0.0|0.1454:0.8546:0.0:0.0	.|.	.|6749	.|Q5VST9	.|OBSCN_HUMAN	V|C	1365|6749;4383	.|ENSP00000409493:R6749C;ENSP00000355668:R4383C	.|.	A|R	+|+	2|1	0|0	OBSCN|OBSCN	226625347|226625347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.073000|0.073000	0.16967|0.16967	4.457000|4.457000	0.60088|0.60088	2.544000|2.544000	0.85801|0.85801	0.555000|0.555000	0.69702|0.69702	GCG|CGT		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation
CAPN9	10753	broad.mit.edu	37	1	230904997	230904997	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:230904997G>A	ENST00000271971.2	+	6	890	c.777G>A	c.(775-777)acG>acA	p.T259T	CAPN9_ENST00000354537.1_Silent_p.T259T|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.T196T	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	259	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.T259T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACAGTGTAACGGGAATTGACC	0.483																																					p.T259T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G777A	1						.						153.0	148.0	149.0					1																	230904997		2203	4300	6503	228971620	SO:0001819	synonymous_variant	10753	exon6			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.777G>A	1.37:g.230904997G>A		Somatic		Capture	Illumina HiSeq	Phase_I	228971620	NM_016452	B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	CCDS1586.1																																																																																				0.483	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	
PCNXL2	80003	broad.mit.edu	37	1	233134089	233134089	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:233134089G>A	ENST00000258229.9	-	32	5933	c.5699C>T	c.(5698-5700)cCg>cTg	p.P1900L	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P552L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1900						integral component of membrane (GO:0016021)		p.P1900L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCACCACTCGGGGCATTGTT	0.627																																					p.P1900L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5699T	1						.						46.0	48.0	47.0					1																	233134089		2018	4186	6204	231200712	SO:0001583	missense	80003	exon32			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5699C>T	1.37:g.233134089G>A	ENSP00000258229:p.Pro1900Leu	Somatic		Capture	Illumina HiSeq	Phase_I	231200712	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921834	0.52653	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.23552	1.9;3.06	5.57	4.65	0.58169	.	0.687007	0.14661	N	0.305999	T	0.18130	0.0435	L	0.40543	1.245	0.42993	D	0.994493	P;B	0.50066	0.931;0.335	B;B	0.30401	0.115;0.09	T	0.05517	-1.0880	10	0.59425	D	0.04	.	12.658	0.56797	0.0766:0.0:0.9234:0.0	.	1900;552	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	L	552;1900	ENSP00000340759:P552L;ENSP00000258229:P1900L	ENSP00000258229:P1900L	P	-	2	0	PCNXL2	231200712	0.533000	0.26354	0.081000	0.20488	0.062000	0.15995	3.931000	0.56529	1.349000	0.45751	0.563000	0.77884	CCG		0.627	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
PCNXL2	80003	broad.mit.edu	37	1	233275574	233275574	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:233275574C>A	ENST00000258229.9	-	20	3779	c.3545G>T	c.(3544-3546)aGa>aTa	p.R1182I	PCNXL2_ENST00000488780.2_Missense_Mutation_p.R315I|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1182						integral component of membrane (GO:0016021)		p.R1182I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AACATAGAGTCTTTCGAACCA	0.338																																					p.R1182I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3545T	1						.						55.0	52.0	53.0					1																	233275574		1838	4079	5917	231342197	SO:0001583	missense	80003	exon20			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3545G>T	1.37:g.233275574C>A	ENSP00000258229:p.Arg1182Ile	Somatic		Capture	Illumina HiSeq	Phase_I	231342197	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905382	0.92107	.	.	ENSG00000135749	ENST00000258229;ENST00000484347;ENST00000488780	T	0.09538	2.97	5.74	5.74	0.90152	.	0.068885	0.53938	U	0.000043	T	0.15998	0.0385	M	0.63428	1.95	0.80722	D	1	B	0.21753	0.06	B	0.28784	0.094	T	0.01298	-1.1392	10	0.87932	D	0	.	13.1723	0.59606	0.0:0.9273:0.0:0.0727	.	1182	A6NKB5	PCX2_HUMAN	I	1182;18;315	ENSP00000258229:R1182I	ENSP00000258229:R1182I	R	-	2	0	PCNXL2	231342197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.768000	0.47645	2.703000	0.92315	0.655000	0.94253	AGA		0.338	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
PCNXL2	80003	broad.mit.edu	37	1	233313556	233313556	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:233313556C>A	ENST00000258229.9	-	17	3499	c.3265G>T	c.(3265-3267)Gat>Tat	p.D1089Y	PCNXL2_ENST00000488780.2_Missense_Mutation_p.D222Y	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1089						integral component of membrane (GO:0016021)		p.D1089Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCACTGAATCTTTCATCTTC	0.468																																					p.D1089Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3265T	1						.						76.0	72.0	73.0					1																	233313556		1929	4140	6069	231380179	SO:0001583	missense	80003	exon17			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3265G>T	1.37:g.233313556C>A	ENSP00000258229:p.Asp1089Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	231380179	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194394	0.78902	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.08634	3.07	5.25	5.25	0.73442	.	.	.	.	.	T	0.12860	0.0312	L	0.46157	1.445	0.80722	D	1	P	0.50819	0.939	P	0.45753	0.492	T	0.00677	-1.1614	9	0.72032	D	0.01	.	15.7541	0.78011	0.0:1.0:0.0:0.0	.	1089	A6NKB5	PCX2_HUMAN	Y	1089;222	ENSP00000258229:D1089Y	ENSP00000258229:D1089Y	D	-	1	0	PCNXL2	231380179	0.995000	0.38212	0.984000	0.44739	0.966000	0.64601	2.253000	0.43205	2.442000	0.82660	0.467000	0.42956	GAT		0.468	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
PCNXL2	80003	broad.mit.edu	37	1	233397867	233397867	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:233397867C>T	ENST00000258229.9	-	3	638	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	135						integral component of membrane (GO:0016021)		p.R135Q(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAGAGGTTTCGACTGGCCTC	0.483																																					p.R135Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G404A	1						.						206.0	222.0	217.0					1																	233397867		1985	4156	6141	231464490	SO:0001583	missense	80003	exon3			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.404G>A	1.37:g.233397867C>T	ENSP00000258229:p.Arg135Gln	Somatic		Capture	Illumina HiSeq	Phase_I	231464490	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312359	0.23908	.	.	ENSG00000135749	ENST00000258229	T	0.44881	0.91	5.2	1.09	0.20402	.	.	.	.	.	T	0.19685	0.0473	N	0.11255	0.115	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.23368	-1.0190	9	0.22109	T	0.4	.	4.8812	0.13681	0.0:0.4521:0.2916:0.2563	.	135	A6NKB5	PCX2_HUMAN	Q	135	ENSP00000258229:R135Q	ENSP00000258229:R135Q	R	-	2	0	PCNXL2	231464490	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.308000	0.08156	0.016000	0.14998	-0.136000	0.14681	CGA		0.483	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
TBCE	6905	broad.mit.edu	37	1	235600641	235600641	+	Missense_Mutation	SNP	C	C	T	rs373781951		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:235600641C>T	ENST00000366601.3	+	12	1144	c.968C>T	c.(967-969)tCg>tTg	p.S323L	TBCE_ENST00000543662.1_Missense_Mutation_p.S374L|TBCE_ENST00000406207.1_Missense_Mutation_p.S323L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	323					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)	p.S323L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTTCAGTGGTCGTTTTTCAAT	0.458																																					p.S323L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968T	1						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	114.0	103.0	107.0		968,968	4.6	0.9	1		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TBCE	NM_001079515.1,NM_003193.3	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	323/528,323/528	235600641	1,13005	2203	4300	6503	233667264	SO:0001583	missense	6905	exon12			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.968C>T	1.37:g.235600641C>T	ENSP00000355560:p.Ser323Leu	Somatic		Capture	Illumina HiSeq	Phase_I	233667264	NM_001079515	A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180032	0.38511	0.0	1.16E-4	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.08458	3.09;3.09;3.09	4.55	4.55	0.56014	.	0.255357	0.37348	N	0.002133	T	0.15782	0.0380	M	0.88241	2.94	0.42692	D	0.993586	P;D;P	0.56746	0.955;0.977;0.48	B;B;B	0.39876	0.312;0.268;0.048	T	0.29458	-1.0011	10	0.27785	T	0.31	-6.6134	16.0222	0.80506	0.0:1.0:0.0:0.0	.	374;323;323	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	L	323;323;374	ENSP00000355560:S323L;ENSP00000384571:S323L;ENSP00000439170:S374L	ENSP00000355560:S323L	S	+	2	0	TBCE	233667264	0.960000	0.32886	0.854000	0.33618	0.054000	0.15201	2.120000	0.41968	2.539000	0.85634	0.655000	0.94253	TCG		0.458	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193	
LYST	1130	broad.mit.edu	37	1	235969998	235969998	+	Missense_Mutation	SNP	C	C	T	rs558162561		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:235969998C>T	ENST00000389794.3	-	6	2612	c.2438G>A	c.(2437-2439)cGa>cAa	p.R813Q	LYST_ENST00000536965.1_Missense_Mutation_p.R813Q|LYST_ENST00000389793.2_Missense_Mutation_p.R813Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	813					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R813Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAATGACTTCGAATACCATT	0.338																																					p.R813Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2438A	1						.																																			234036621	SO:0001583	missense	1130	exon6			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2438G>A	1.37:g.235969998C>T	ENSP00000374444:p.Arg813Gln	Somatic		Capture	Illumina HiSeq	Phase_I	234036621	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270972	0.95429	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.72051	-0.62;-0.62;0.57	5.44	5.44	0.79542	.	0.308255	0.32769	N	0.005670	D	0.82719	0.5098	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	0.984;1.0	P;D	0.68943	0.733;0.961	D	0.84119	0.0405	10	0.87932	D	0	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	813;813	Q99698-3;Q99698	.;LYST_HUMAN	Q	813	ENSP00000374444:R813Q;ENSP00000374443:R813Q;ENSP00000438315:R813Q	ENSP00000374443:R813Q	R	-	2	0	LYST	234036621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	CGA		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235971896	235971896	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:235971896C>T	ENST00000389794.3	-	5	2396	c.2222G>A	c.(2221-2223)aGa>aAa	p.R741K	LYST_ENST00000536965.1_Missense_Mutation_p.R741K|LYST_ENST00000389793.2_Missense_Mutation_p.R741K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	741					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R741K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCAACTCCTCTTTGGAGCAC	0.368																																					p.R741K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2222A	1						.						69.0	70.0	69.0					1																	235971896		2203	4300	6503	234038519	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2222G>A	1.37:g.235971896C>T	ENSP00000374444:p.Arg741Lys	Somatic		Capture	Illumina HiSeq	Phase_I	234038519	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162107	0.57368	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68479	-0.33;-0.33;1.08	5.8	5.8	0.92144	.	0.098434	0.85682	D	0.000000	T	0.79299	0.4422	M	0.62723	1.935	0.49915	D	0.999837	D;B	0.69078	0.997;0.088	D;B	0.77557	0.99;0.098	T	0.78679	-0.2110	10	0.49607	T	0.09	.	15.2342	0.73416	0.0:0.9311:0.0:0.0689	.	741;741	Q99698-3;Q99698	.;LYST_HUMAN	K	741	ENSP00000374444:R741K;ENSP00000374443:R741K;ENSP00000438315:R741K	ENSP00000374443:R741K	R	-	2	0	LYST	234038519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.608000	0.61141	2.744000	0.94065	0.655000	0.94253	AGA		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
RYR2	6262	broad.mit.edu	37	1	237532888	237532888	+	Missense_Mutation	SNP	C	C	T	rs397516527		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237532888C>T	ENST00000366574.2	+	6	681	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RYR2_ENST00000360064.6_Missense_Mutation_p.R120C|RYR2_ENST00000542537.1_Missense_Mutation_p.R106C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	122	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R120C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATATTGCTGCGCCATTCCTA	0.458																																					p.R122C												RYR2,central_nervous_system,brain,Substitution - Missense,-1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	1						.						150.0	125.0	133.0					1																	237532888		1969	4156	6125	235599511	SO:0001583	missense	6262	exon6			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.364C>T	1.37:g.237532888C>T	ENSP00000355533:p.Arg122Cys	Somatic		Capture	Illumina HiSeq	Phase_I	235599511	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464805	0.84425	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93659	-3.26;-3.26;-3.26	5.55	4.64	0.57946	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	D	0.000004	D	0.96269	0.8783	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.96675	0.9499	10	0.87932	D	0	.	13.7174	0.62705	0.0:0.924:0.0:0.0759	.	122	Q92736	RYR2_HUMAN	C	122;120;106	ENSP00000355533:R122C;ENSP00000353174:R120C;ENSP00000443798:R106C	ENSP00000353174:R120C	R	+	1	0	RYR2	235599511	0.984000	0.35163	0.891000	0.34965	0.923000	0.55619	2.666000	0.46799	1.476000	0.48215	0.655000	0.94253	CGC		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237550595	237550595	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237550595C>T	ENST00000366574.2	+	9	908	c.591C>T	c.(589-591)ggC>ggT	p.G197G	RYR2_ENST00000360064.6_Silent_p.G195G|RYR2_ENST00000542537.1_Silent_p.G181G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	197	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G195G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTTATGGCAACGGCAGCT	0.498																																					p.G197G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	1						.						112.0	113.0	113.0					1																	237550595		2006	4179	6185	235617218	SO:0001819	synonymous_variant	6262	exon9			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.591C>T	1.37:g.237550595C>T		Somatic		Capture	Illumina HiSeq	Phase_I	235617218	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237758867	237758867	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237758867T>C	ENST00000366574.2	+	34	4823	c.4506T>C	c.(4504-4506)aaT>aaC	p.N1502N	RYR2_ENST00000360064.6_Silent_p.N1500N|RYR2_ENST00000542537.1_Silent_p.N1486N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1502	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N1500N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACGCAACAATAATGGACTGG	0.493																																					p.N1502N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4506C	1						.						91.0	100.0	97.0					1																	237758867		2115	4228	6343	235825490	SO:0001819	synonymous_variant	6262	exon34			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4506T>C	1.37:g.237758867T>C		Somatic		Capture	Illumina HiSeq	Phase_I	235825490	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237777617	237777617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237777617C>T	ENST00000366574.2	+	37	5506	c.5189C>T	c.(5188-5190)aCg>aTg	p.T1730M	RYR2_ENST00000360064.6_Missense_Mutation_p.T1728M|RYR2_ENST00000542537.1_Missense_Mutation_p.T1714M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1730	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T1728M(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCCCCATGACGGAGGAGACG	0.547																																					p.T1730M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C5189T	1						.						62.0	61.0	61.0					1																	237777617		2119	4241	6360	235844240	SO:0001583	missense	6262	exon37			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5189C>T	1.37:g.237777617C>T	ENSP00000355533:p.Thr1730Met	Somatic		Capture	Illumina HiSeq	Phase_I	235844240	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470495	0.84533	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74737	-0.87;-0.87;-0.87	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	D	0.84356	0.5454	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.84547	0.0642	10	0.52906	T	0.07	.	19.2592	0.93961	0.0:1.0:0.0:0.0	.	1730	Q92736	RYR2_HUMAN	M	1730;1728;1714	ENSP00000355533:T1730M;ENSP00000353174:T1728M;ENSP00000443798:T1714M	ENSP00000353174:T1728M	T	+	2	0	RYR2	235844240	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	7.776000	0.85560	2.563000	0.86464	0.650000	0.86243	ACG		0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237791328	237791328	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237791328C>T	ENST00000366574.2	+	41	6705	c.6388C>T	c.(6388-6390)Ctg>Ttg	p.L2130L	RYR2_ENST00000360064.6_Silent_p.L2128L|RYR2_ENST00000542537.1_Silent_p.L2114L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2130	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L2128L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGGTCCCTGCTGAGTGTGAG	0.468																																					p.L2130L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6388T	1						.						106.0	114.0	111.0					1																	237791328		1991	4165	6156	235857951	SO:0001819	synonymous_variant	6262	exon41			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6388C>T	1.37:g.237791328C>T		Somatic		Capture	Illumina HiSeq	Phase_I	235857951	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237875084	237875084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237875084G>T	ENST00000366574.2	+	71	10587	c.10270G>T	c.(10270-10272)Gaa>Taa	p.E3424*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E3422*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E3408*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3424					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E3422*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTACAGAATGAAATCAACAA	0.318																																					p.E3424X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G10270T	1						.						56.0	55.0	55.0					1																	237875084		1826	4078	5904	235941707	SO:0001587	stop_gained	6262	exon71			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10270G>T	1.37:g.237875084G>T	ENSP00000355533:p.Glu3424*	Somatic		Capture	Illumina HiSeq	Phase_I	235941707	NM_001035	Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	52	20.032365	0.99926	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.4215	18.7677	0.91879	0.0:0.0:1.0:0.0	.	.	.	.	X	3424;3422;3408;379	.	ENSP00000353174:E3422X	E	+	1	0	RYR2	235941707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.437000	0.82529	0.591000	0.81541	GAA		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237895418	237895418	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237895418C>A	ENST00000366574.2	+	78	11325	c.11008C>A	c.(11008-11010)Ctg>Atg	p.L3670M	RYR2_ENST00000360064.6_Missense_Mutation_p.L3668M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3654M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3670					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L3668M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGATCCTTCTGTTTAGTCG	0.423																																					p.L3670M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11008A	1						.						101.0	101.0	101.0					1																	237895418		1859	4085	5944	235962041	SO:0001583	missense	6262	exon78			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11008C>A	1.37:g.237895418C>A	ENSP00000355533:p.Leu3670Met	Somatic		Capture	Illumina HiSeq	Phase_I	235962041	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471081	0.84533	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96830	-4.14;-4.08;-4.13	5.62	5.62	0.85841	.	0.000000	0.47852	D	0.000219	D	0.95862	0.8653	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.62089	0.73;0.898	D	0.95345	0.8441	10	0.34782	T	0.22	-10.077	19.6547	0.95831	0.0:1.0:0.0:0.0	.	625;3670	B4DGV4;Q92736	.;RYR2_HUMAN	M	3670;3668;3654;625	ENSP00000355533:L3670M;ENSP00000353174:L3668M;ENSP00000443798:L3654M	ENSP00000353174:L3668M	L	+	1	2	RYR2	235962041	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.808000	0.69165	2.661000	0.90470	0.655000	0.94253	CTG		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237936915	237936915	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237936915A>G	ENST00000366574.2	+	87	12059	c.11742A>G	c.(11740-11742)aaA>aaG	p.K3914K	RYR2_ENST00000360064.6_Silent_p.K3920K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.K3898K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3914					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K3912K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGGCAAAACAAGTCTTTA	0.363																																					p.K3914K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A11742G	1						.						102.0	98.0	99.0					1																	237936915		1850	4092	5942	236003538	SO:0001819	synonymous_variant	6262	exon87			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11742A>G	1.37:g.237936915A>G		Somatic		Capture	Illumina HiSeq	Phase_I	236003538	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237947447	237947447	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237947447C>T	ENST00000366574.2	+	90	12752	c.12435C>T	c.(12433-12435)atC>atT	p.I4145I	RYR2_ENST00000360064.6_Silent_p.I4151I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.I4129I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4145					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4143I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAAACGCATCGAGAGGGTCT	0.498																																					p.I4145I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12435T	1						.						79.0	80.0	80.0					1																	237947447		1922	4141	6063	236014070	SO:0001819	synonymous_variant	6262	exon90			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12435C>T	1.37:g.237947447C>T		Somatic		Capture	Illumina HiSeq	Phase_I	236014070	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237951399	237951399	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237951399C>A	ENST00000366574.2	+	92	13757	c.13440C>A	c.(13438-13440)ttC>ttA	p.F4480L	RYR2_ENST00000360064.6_Missense_Mutation_p.F4486L|RYR2_ENST00000542537.1_Missense_Mutation_p.F4464L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4480					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F4478L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTCAGCATTCTGGAAGAAAA	0.383																																					p.F4480L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13440A	1						.						96.0	105.0	102.0					1																	237951399		2094	4247	6341	236018022	SO:0001583	missense	6262	exon92			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13440C>A	1.37:g.237951399C>A	ENSP00000355533:p.Phe4480Leu	Somatic		Capture	Illumina HiSeq	Phase_I	236018022	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479415	0.63849	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93133	-3.17;-3.17;-3.17	4.55	3.61	0.41365	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000006	D	0.85440	0.5697	N	0.17345	0.48	0.80722	D	1	B	0.26445	0.149	B	0.19391	0.025	T	0.82438	-0.0457	10	0.32370	T	0.25	.	11.7497	0.51841	0.0:0.9118:0.0:0.0882	.	4480	Q92736	RYR2_HUMAN	L	4480;4486;4464	ENSP00000355533:F4480L;ENSP00000353174:F4486L;ENSP00000443798:F4464L	ENSP00000353174:F4486L	F	+	3	2	RYR2	236018022	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.839000	0.48207	2.237000	0.73441	0.585000	0.79938	TTC		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237954742	237954742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237954742G>A	ENST00000366574.2	+	93	13807	c.13490G>A	c.(13489-13491)cGc>cAc	p.R4497H	RYR2_ENST00000360064.6_Missense_Mutation_p.R4503H|RYR2_ENST00000542537.1_Missense_Mutation_p.R4481H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4497			R -> C (in CPVT1). {ECO:0000269|PubMed:11208676, ECO:0000269|PubMed:12093772, ECO:0000269|PubMed:15544015}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4495H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTTTGCTCGCAACTTTTAC	0.333																																					p.R4497H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13490A	1						.						190.0	164.0	172.0					1																	237954742		1845	4093	5938	236021365	SO:0001583	missense	6262	exon93			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13490G>A	1.37:g.237954742G>A	ENSP00000355533:p.Arg4497His	Somatic		Capture	Illumina HiSeq	Phase_I	236021365	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917161	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99150	-5.49;-5.49;-5.49	4.8	4.8	0.61643	Ryanodine Receptor TM 4-6 (1);	0.000000	0.53938	U	0.000059	D	0.99155	0.9708	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99819	1.1046	10	0.87932	D	0	.	18.2172	0.89890	0.0:0.0:1.0:0.0	.	4497	Q92736	RYR2_HUMAN	H	4497;4503;4481	ENSP00000355533:R4497H;ENSP00000353174:R4503H;ENSP00000443798:R4481H	ENSP00000353174:R4503H	R	+	2	0	RYR2	236021365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.379000	0.81126	0.650000	0.86243	CGC		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237961370	237961370	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:237961370G>T	ENST00000366574.2	+	97	14307	c.13990G>T	c.(13990-13992)Gac>Tac	p.D4664Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D4670Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D4648Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4664					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D4662Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACGGCCGAGACAGAATCAG	0.413																																					p.D4664Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13990T	1						.						92.0	93.0	93.0					1																	237961370		1888	4111	5999	236027993	SO:0001583	missense	6262	exon97			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13990G>T	1.37:g.237961370G>T	ENSP00000355533:p.Asp4664Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	236027993	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719052	0.89205	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.92048	-2.96;-2.96;-2.96	5.72	5.72	0.89469	.	0.000000	0.64402	U	0.000006	D	0.92648	0.7664	L	0.54323	1.7	0.80722	D	1	B;P	0.50943	0.313;0.94	B;P	0.48030	0.272;0.564	D	0.93177	0.6571	10	0.87932	D	0	.	19.8806	0.96895	0.0:0.0:1.0:0.0	.	97;4664	F5H3C7;Q92736	.;RYR2_HUMAN	Y	4664;4670;4648;97	ENSP00000355533:D4664Y;ENSP00000353174:D4670Y;ENSP00000443798:D4648Y	ENSP00000353174:D4670Y	D	+	1	0	RYR2	236027993	1.000000	0.71417	0.984000	0.44739	0.854000	0.48673	9.813000	0.99286	2.704000	0.92352	0.650000	0.86243	GAC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
TCEB3	6924	broad.mit.edu	37	1	24082430	24082430	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:24082430A>G	ENST00000418390.2	+	8	2238	c.1967A>G	c.(1966-1968)tAc>tGc	p.Y656C	TCEB3_ENST00000609199.1_Missense_Mutation_p.Y630C	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	656	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.Y630C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CGAGAGATGTACCTGCGGCTT	0.468																																					p.Y656C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1967G	1						.						76.0	74.0	75.0					1																	24082430		2203	4300	6503	23955017	SO:0001583	missense	6924	exon8			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1967A>G	1.37:g.24082430A>G	ENSP00000395574:p.Tyr656Cys	Somatic		Capture	Illumina HiSeq	Phase_I	23955017	NM_003198	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584736	0.86748	.	.	ENSG00000011007	ENST00000418390	T	0.63744	-0.06	5.61	5.61	0.85477	.	0.000000	0.53938	D	0.000046	D	0.82342	0.5016	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85249	0.1043	10	0.56958	D	0.05	-15.8664	16.0967	0.81129	1.0:0.0:0.0:0.0	.	656	Q14241	ELOA1_HUMAN	C	656	ENSP00000395574:Y656C	ENSP00000395574:Y656C	Y	+	2	0	TCEB3	23955017	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.194000	0.94962	2.263000	0.75096	0.379000	0.24179	TAC		0.468	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	
ZP4	57829	broad.mit.edu	37	1	238053176	238053176	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:238053176C>T	ENST00000366570.4	-	3	549	c.391G>A	c.(391-393)Gat>Aat	p.D131N	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	131					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.D131N(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCTAGAAGATCCATAGGACAC	0.552																																					p.D131N	NSCLC(166;160 2029 11600 18754 19936)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G391A	1						.						222.0	225.0	224.0					1																	238053176		2203	4300	6503	236119799	SO:0001583	missense	57829	exon3			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.391G>A	1.37:g.238053176C>T	ENSP00000355529:p.Asp131Asn	Somatic		Capture	Illumina HiSeq	Phase_I	236119799	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507821	0.27036	.	.	ENSG00000116996	ENST00000366570	T	0.74315	-0.83	4.89	-0.503	0.12000	.	.	.	.	.	T	0.55273	0.1910	L	0.39020	1.185	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.34900	-0.9810	9	0.08599	T	0.76	0.2865	4.9438	0.13978	0.0:0.502:0.1446:0.3534	.	131	Q12836	ZP4_HUMAN	N	131	ENSP00000355529:D131N	ENSP00000355529:D131N	D	-	1	0	ZP4	236119799	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-0.321000	0.08018	-0.119000	0.11830	0.655000	0.94253	GAT		0.552	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
PITHD1	57095	broad.mit.edu	37	1	24112870	24112870	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:24112870C>T	ENST00000246151.4	+	5	602	c.491C>T	c.(490-492)aCg>aTg	p.T164M	PITHD1_ENST00000374524.1_Missense_Mutation_p.T51M	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	164	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)		p.T164M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GGAGCAGATACGACAAAGGTC	0.408																																					p.T164M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	1						.						123.0	113.0	116.0					1																	24112870		2203	4300	6503	23985457	SO:0001583	missense	57095	exon5				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"""TXNL1 C-terminal like"""		"""chromosome 1 open reading frame 128"""	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.491C>T	1.37:g.24112870C>T	ENSP00000246151:p.Thr164Met	Somatic		Capture	Illumina HiSeq	Phase_I	23985457	NM_020362	B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Missense_Mutation	SNP	ENST00000246151.4	37	CCDS240.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879696	0.72294	.	.	ENSG00000057757	ENST00000246151;ENST00000374524	.	.	.	6.08	6.08	0.98989	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.241213	0.48767	D	0.000164	T	0.72645	0.3486	M	0.78049	2.395	0.37059	D	0.897975	D	0.58970	0.984	P	0.62298	0.9	T	0.77897	-0.2416	9	0.56958	D	0.05	-2.7317	11.5535	0.50733	0.1387:0.7274:0.1339:0.0	.	164	Q9GZP4	PITH1_HUMAN	M	164;51	.	ENSP00000246151:T164M	T	+	2	0	PITHD1	23985457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.210000	0.42816	2.894000	0.99253	0.655000	0.94253	ACG		0.408	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008243.1	NM_020362	
OPN3	23596	broad.mit.edu	37	1	241761093	241761093	+	Silent	SNP	C	C	T	rs200074626	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:241761093C>T	ENST00000366554.2	-	3	1006	c.900G>A	c.(898-900)tcG>tcA	p.S300S	OPN3_ENST00000331838.5_Silent_p.S221S|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	300					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.S300S(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATACAGTGTTCGATTTAGCAA	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		16944	0.001		0.0	False		,,,				2504	0.001				p.S300S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	1						.						143.0	134.0	137.0					1																	241761093		2203	4300	6503	239827716	SO:0001819	synonymous_variant	23596	exon3			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.900G>A	1.37:g.241761093C>T		Somatic		Capture	Illumina HiSeq	Phase_I	239827716	NM_014322	Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	CCDS31072.1																																																																																				0.398	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322	
WDR64	128025	broad.mit.edu	37	1	241953970	241953970	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:241953970A>C	ENST00000366552.2	+	24	3146	c.2939A>C	c.(2938-2940)aAg>aCg	p.K980T	WDR64_ENST00000437684.2_Missense_Mutation_p.K813T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	980								p.K533T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGGATTTCAAGTTTTTCAAG	0.338																																					p.K980T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2939C	1						.						141.0	146.0	144.0					1																	241953970		2203	4300	6503	240020593	SO:0001583	missense	128025	exon24			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2939A>C	1.37:g.241953970A>C	ENSP00000355510:p.Lys980Thr	Somatic		Capture	Illumina HiSeq	Phase_I	240020593	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.701623|3.701623	0.68501|0.68501	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.70986|.	-0.29;-0.53;-0.47|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.087389|.	0.49305|.	D|.	0.000154|.	T|T	0.58538|0.58538	0.2129|0.2129	M|M	0.71581|0.71581	2.175|2.175	0.24983|0.24983	N|N	0.99158|0.99158	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.87578|.	0.998;0.991|.	T|T	0.54022|0.54022	-0.8355|-0.8355	10|5	0.52906|.	T|.	0.07|.	-11.2435|-11.2435	12.8663|12.8663	0.57941|0.57941	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	980;533|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	T|R	980;813;584|459	ENSP00000355510:K980T;ENSP00000402446:K813T;ENSP00000406656:K584T|.	ENSP00000355510:K980T|.	K|S	+|+	2|1	0|0	WDR64|WDR64	240020593|240020593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	5.076000|5.076000	0.64413|0.64413	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.338	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
MAP1LC3C	440738	broad.mit.edu	37	1	242162307	242162307	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:242162307G>A	ENST00000357246.3	-	1	68	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	2					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.P2S(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTGGAGGCGGCATTGCACTC	0.473											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P2S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4T	1						.						72.0	74.0	73.0					1																	242162307		2202	4300	6502	240228930	SO:0001583	missense	440738	exon1			AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.4C>T	1.37:g.242162307G>A	ENSP00000349785:p.Pro2Ser	Somatic	2432	Capture	Illumina HiSeq	Phase_I	240228930	NM_001004343	A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332760	0.24167	.	.	ENSG00000197769	ENST00000357246	T	0.41400	1.0	3.95	3.95	0.45737	.	0.561535	0.17344	N	0.177651	T	0.28466	0.0704	N	0.14661	0.345	0.37871	D	0.930062	B	0.15473	0.013	B	0.10450	0.005	T	0.15694	-1.0428	10	0.40728	T	0.16	.	14.915	0.70789	0.0:0.0:1.0:0.0	.	2	Q9BXW4	MLP3C_HUMAN	S	2	ENSP00000349785:P2S	ENSP00000349785:P2S	P	-	1	0	MAP1LC3C	240228930	1.000000	0.71417	0.804000	0.32291	0.849000	0.48306	2.604000	0.46274	2.034000	0.60081	0.637000	0.83480	CCG		0.473	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343	
FUCA1	2517	broad.mit.edu	37	1	24192015	24192015	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:24192015A>T	ENST00000374479.3	-	2	497	c.490T>A	c.(490-492)Ttg>Atg	p.L164M		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	164					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.L164M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TCACCAACCAAATCCCGATGA	0.502																																					p.L164M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T490A	1						.						133.0	124.0	127.0					1																	24192015		2203	4300	6503	24064602	SO:0001583	missense	2517	exon2			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.490T>A	1.37:g.24192015A>T	ENSP00000363603:p.Leu164Met	Somatic		Capture	Illumina HiSeq	Phase_I	24064602	NM_000147	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	CCDS244.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068755	0.76301	.	.	ENSG00000179163	ENST00000374479	T	0.62941	-0.01	5.34	1.28	0.21552	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.062984	0.64402	D	0.000004	T	0.80597	0.4653	H	0.96080	3.765	0.58432	D	0.999998	D	0.76494	0.999	D	0.74348	0.983	T	0.77035	-0.2737	10	0.87932	D	0	-13.8551	4.0375	0.09737	0.5026:0.1795:0.3179:0.0	.	164	P04066	FUCO_HUMAN	M	164	ENSP00000363603:L164M	ENSP00000363603:L164M	L	-	1	2	FUCA1	24064602	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.138000	0.42140	0.403000	0.25479	0.459000	0.35465	TTG		0.502	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
PLD5	200150	broad.mit.edu	37	1	242253191	242253191	+	Missense_Mutation	SNP	C	C	A	rs535812855		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:242253191C>A	ENST00000536534.2	-	10	1817	c.1576G>T	c.(1576-1578)Gac>Tac	p.D526Y	PLD5_ENST00000442594.2_Missense_Mutation_p.D434Y|PLD5_ENST00000427495.1_Missense_Mutation_p.D464Y			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	526						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.D434Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCTGTGTCGTCTGTGGCAGTT	0.463																																					p.D464Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390T	1						.						235.0	228.0	230.0					1																	242253191		2203	4300	6503	240319814	SO:0001583	missense	200150	exon10			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1576G>T	1.37:g.242253191C>A	ENSP00000440896:p.Asp526Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	240319814	NM_001195811	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.312687	0.01331	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.44083	0.94;0.93;0.93	5.04	-5.81	0.02340	.	3.081050	0.00757	N	0.001107	T	0.11750	0.0286	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28170	-1.0052	10	0.02654	T	1	0.0411	0.9153	0.01303	0.2021:0.3303:0.2294:0.2382	.	434;526;464	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	Y	464;434;526	ENSP00000401285:D464Y;ENSP00000414188:D434Y;ENSP00000440896:D526Y	ENSP00000401285:D464Y	D	-	1	0	PLD5	240319814	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.045000	0.14013	-0.875000	0.04022	-0.140000	0.14226	GAC		0.463	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
KIF26B	55083	broad.mit.edu	37	1	245849626	245849626	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:245849626C>T	ENST00000407071.2	+	12	3781	c.3341C>T	c.(3340-3342)gCg>gTg	p.A1114V	KIF26B_ENST00000366518.4_Missense_Mutation_p.A733V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1114					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A1114V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCGGCGTGGCGTCTAGGGAG	0.622																																					p.A1114V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3341T	1						.						66.0	74.0	72.0					1																	245849626		1943	4135	6078	243916249	SO:0001583	missense	55083	exon12			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3341C>T	1.37:g.245849626C>T	ENSP00000385545:p.Ala1114Val	Somatic		Capture	Illumina HiSeq	Phase_I	243916249	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259491	0.05791	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76186	-1.0;-1.0	5.76	-2.66	0.06077	.	.	.	.	.	T	0.43897	0.1268	N	0.02111	-0.68	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.34204	-0.9838	9	0.08599	T	0.76	.	13.8666	0.63592	0.0:0.6039:0.0:0.3961	.	733;1114	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1114;733;730	ENSP00000385545:A1114V;ENSP00000355475:A733V	ENSP00000355475:A733V	A	+	2	0	KIF26B	243916249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-0.383000	0.07858	-1.079000	0.02226	GCG		0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
AHCTF1	25909	broad.mit.edu	37	1	247040470	247040470	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:247040470T>C	ENST00000391829.2	-	22	2918	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D967G|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D941G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	932	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D932G(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCTCAGTGTCTGTAAATGG	0.338																																					p.D941G	Colon(145;197 1800 4745 15099 26333)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2822G	1						.						107.0	108.0	108.0					1																	247040470		2203	4300	6503	245107093	SO:0001583	missense	25909	exon22				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2795A>G	1.37:g.247040470T>C	ENSP00000375705:p.Asp932Gly	Somatic		Capture	Illumina HiSeq	Phase_I	245107093	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	T	16.16	3.044596	0.55110	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.44881	0.91;0.91;0.91	5.35	5.35	0.76521	.	0.462105	0.23549	N	0.046987	T	0.43986	0.1272	L	0.53249	1.67	0.33174	D	0.548673	P;P	0.45902	0.868;0.747	B;B	0.43386	0.359;0.418	T	0.59825	-0.7381	10	0.42905	T	0.14	-4.5046	15.6333	0.76929	0.0:0.0:0.0:1.0	.	967;932	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	G	967;941;932	ENSP00000355464:D967G;ENSP00000355465:D941G;ENSP00000375705:D932G	ENSP00000355465:D941G	D	-	2	0	AHCTF1	245107093	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.900000	0.48687	2.160000	0.67779	0.477000	0.44152	GAC		0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
AHCTF1	25909	broad.mit.edu	37	1	247063765	247063765	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:247063765G>A	ENST00000391829.2	-	9	1247	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S410L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S384L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	375	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S375L(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTGTCAGGCGATAGAGCTGG	0.328																																					p.S384L	Colon(145;197 1800 4745 15099 26333)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1151T	1						.						32.0	34.0	34.0					1																	247063765		2202	4299	6501	245130388	SO:0001583	missense	25909	exon9				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1124C>T	1.37:g.247063765G>A	ENSP00000375705:p.Ser375Leu	Somatic		Capture	Illumina HiSeq	Phase_I	245130388	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471163	0.84533	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.25085	1.82;1.82;1.82	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.28870	-1.0030	10	0.52906	T	0.07	-18.7618	18.8273	0.92123	0.0:0.0:1.0:0.0	.	410;375	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	L	410;384;375	ENSP00000355464:S410L;ENSP00000355465:S384L;ENSP00000375705:S375L	ENSP00000355465:S384L	S	-	2	0	AHCTF1	245130388	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.173000	0.94815	2.525000	0.85131	0.305000	0.20034	TCG		0.328	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
AHCTF1	25909	broad.mit.edu	37	1	247070992	247070992	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:247070992G>A	ENST00000391829.2	-	5	748	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	AHCTF1_ENST00000366508.1_Missense_Mutation_p.R244C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R218C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	209	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R209C(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACAGATGGCGCCCTTGTCTC	0.393																																					p.R218C	Colon(145;197 1800 4745 15099 26333)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652T	1						.						134.0	126.0	129.0					1																	247070992		2203	4300	6503	245137615	SO:0001583	missense	25909	exon5				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.625C>T	1.37:g.247070992G>A	ENSP00000375705:p.Arg209Cys	Somatic		Capture	Illumina HiSeq	Phase_I	245137615	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	G	17.76	3.469796	0.63625	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.24151	1.87;1.87;1.87	5.76	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.32530	0.975	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.23190	-1.0195	10	0.72032	D	0.01	-9.4583	16.9182	0.86157	0.0:0.0:0.8138:0.1862	.	244;209	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	244;218;209	ENSP00000355464:R244C;ENSP00000355465:R218C;ENSP00000375705:R209C	ENSP00000355465:R218C	R	-	1	0	AHCTF1	245137615	0.987000	0.35691	0.996000	0.52242	0.996000	0.88848	1.779000	0.38624	2.880000	0.98712	0.650000	0.86243	CGC		0.393	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
NLRP3	114548	broad.mit.edu	37	1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:247586553C>T	ENST00000336119.3	+	2	1051	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_ENST00000366497.2_Missense_Mutation_p.S102L|NLRP3_ENST00000391828.3_Missense_Mutation_p.S102L|NLRP3_ENST00000391827.2_Missense_Mutation_p.S102L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.S102L|NLRP3_ENST00000366496.2_Missense_Mutation_p.S102L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.S102L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACGTGTTTCGAATCCCACT	0.403																																					p.S102L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C305T	1						.						207.0	199.0	201.0					1																	247586553		2203	4300	6503	245653176	SO:0001583	missense	114548	exon2			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.305C>T	1.37:g.247586553C>T	ENSP00000337383:p.Ser102Leu	Somatic		Capture	Illumina HiSeq	Phase_I	245653176	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252959	0.22965	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74947	-0.81;-0.83;-0.81;-0.89;-0.83;-0.86	2.86	2.86	0.33363	.	0.690319	0.12740	N	0.443110	T	0.56411	0.1983	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.33266	0.01;0.103;0.404;0.036;0.282	B;B;B;B;B	0.18871	0.001;0.01;0.023;0.004;0.01	T	0.43669	-0.9377	10	0.30854	T	0.27	.	9.3943	0.38392	0.0:1.0:0.0:0.0	.	102;102;102;102;102	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	102	ENSP00000375704:S102L;ENSP00000355453:S102L;ENSP00000337383:S102L;ENSP00000294752:S102L;ENSP00000355452:S102L;ENSP00000375703:S102L	ENSP00000337383:S102L	S	+	2	0	NLRP3	245653176	0.006000	0.16342	0.013000	0.15412	0.008000	0.06430	2.040000	0.41203	1.888000	0.54679	0.655000	0.94253	TCG		0.403	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247607422	247607422	+	Missense_Mutation	SNP	G	G	A	rs201260331		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:247607422G>A	ENST00000336119.3	+	7	3564	c.2818G>A	c.(2818-2820)Gac>Aac	p.D940N	NLRP3_ENST00000366497.2_Missense_Mutation_p.D883N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D940N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D883N|NLRP3_ENST00000348069.2_Missense_Mutation_p.D826N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D883N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	940					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.D940N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTTGCACCCCGACTGCAAGCT	0.517																																					p.D940N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2818A	1						.						126.0	113.0	118.0					1																	247607422		2203	4300	6503	245674045	SO:0001583	missense	114548	exon7			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2818G>A	1.37:g.247607422G>A	ENSP00000337383:p.Asp940Asn	Somatic		Capture	Illumina HiSeq	Phase_I	245674045	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	4.899	0.167061	0.09339	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.06	-0.413	0.12363	.	1.108720	0.06791	N	0.787015	T	0.13157	0.0319	N	0.01729	-0.75	0.19575	N	0.999965	B;B;B;B;B	0.12013	0.003;0.0;0.001;0.005;0.0	B;B;B;B;B	0.10450	0.001;0.001;0.002;0.005;0.001	T	0.26815	-1.0092	10	0.02654	T	1	.	3.6075	0.08048	0.4514:0.2091:0.3395:0.0	.	920;883;826;883;940	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	940;883;940;826;883;883	ENSP00000375704:D940N;ENSP00000355453:D883N;ENSP00000337383:D940N;ENSP00000294752:D826N;ENSP00000355452:D883N;ENSP00000375703:D883N	ENSP00000337383:D940N	D	+	1	0	NLRP3	245674045	0.038000	0.19896	0.715000	0.30552	0.684000	0.39900	0.414000	0.21164	-0.076000	0.12775	-0.390000	0.06520	GAC		0.517	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OR2W5	441932	broad.mit.edu	37	1	247655100	247655100	+	RNA	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:247655100G>A	ENST00000522351.1	+	0	731							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R224H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GATTGCAGCCGCGGTGCTGAG	0.562																																					p.R224H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G671A	1						.						117.0	113.0	114.0					1																	247655100		2203	4300	6503	245721723			441932	exon1					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655100G>A		Somatic		Capture	Illumina HiSeq	Phase_I	245721723	NM_001004698	B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																					0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
OR2T33	391195	broad.mit.edu	37	1	248436884	248436884	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:248436884T>C	ENST00000318021.2	-	1	254	c.233A>G	c.(232-234)aAa>aGa	p.K78R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K78R(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCCGCCATTTTGGGCACAGT	0.577																																					p.K78R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A233G	1						.						70.0	65.0	67.0					1																	248436884		2082	4094	6176	246503507	SO:0001583	missense	391195	exon1				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.233A>G	1.37:g.248436884T>C	ENSP00000324687:p.Lys78Arg	Somatic		Capture	Illumina HiSeq	Phase_I	246503507	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	12.43	1.936906	0.34189	.	.	ENSG00000177212	ENST00000318021	T	0.00466	7.23	2.7	-0.176	0.13311	GPCR, rhodopsin-like superfamily (1);	0.203414	0.23807	N	0.044367	T	0.00754	0.0025	M	0.67953	2.075	0.19575	N	0.999964	D	0.58268	0.982	P	0.58454	0.839	T	0.48479	-0.9032	10	0.56958	D	0.05	.	6.9949	0.24777	0.0:0.2315:0.0:0.7685	.	78	Q8NG76	O2T33_HUMAN	R	78	ENSP00000324687:K78R	ENSP00000324687:K78R	K	-	2	0	OR2T33	246503507	0.004000	0.15560	0.936000	0.37596	0.505000	0.33919	0.168000	0.16622	-0.187000	0.10516	-0.411000	0.06167	AAA		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR2T33	391195	broad.mit.edu	37	1	248437083	248437083	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:248437083G>T	ENST00000318021.2	-	1	55	c.34C>A	c.(34-36)Ctc>Atc	p.L12I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGTCCTAGGAGAATAAAATCT	0.423																																					p.L12I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C34A	1						.						51.0	53.0	52.0					1																	248437083		2197	4291	6488	246503706	SO:0001583	missense	391195	exon1				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.34C>A	1.37:g.248437083G>T	ENSP00000324687:p.Leu12Ile	Somatic		Capture	Illumina HiSeq	Phase_I	246503706	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	13.94	2.388031	0.42308	.	.	ENSG00000177212	ENST00000318021	T	0.00540	6.7	2.7	2.7	0.31948	.	0.264120	0.19894	U	0.103680	T	0.02533	0.0077	M	0.87381	2.88	0.38146	D	0.938591	D	0.76494	0.999	D	0.87578	0.998	T	0.48747	-0.9008	10	0.87932	D	0	.	13.8042	0.63220	0.0:0.0:1.0:0.0	.	12	Q8NG76	O2T33_HUMAN	I	12	ENSP00000324687:L12I	ENSP00000324687:L12I	L	-	1	0	OR2T33	246503706	0.064000	0.20934	0.597000	0.28824	0.044000	0.14063	0.841000	0.27613	1.437000	0.47472	0.494000	0.49563	CTC		0.423	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
CEP104	9731	broad.mit.edu	37	1	3753080	3753080	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:3753080G>T	ENST00000378230.3	-	10	1620	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	432						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.I432I(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCAACACATCGATGGCAGAGC	0.483																																					p.I432I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1296A	1						.						101.0	85.0	90.0					1																	3753080		2203	4300	6503	3742940	SO:0001819	synonymous_variant	9731	exon10			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1296C>A	1.37:g.3753080G>T		Somatic		Capture	Illumina HiSeq	Phase_I	3742940	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	CCDS30571.1																																																																																				0.483	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
NPHP4	261734	broad.mit.edu	37	1	6008219	6008219	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:6008219C>T	ENST00000378156.4	-	8	1168	c.903G>A	c.(901-903)ccG>ccA	p.P301P	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	301					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.P301P(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAACGACCTGCGGCCTCTGCA	0.607																																					p.P301P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G903A	1						.						63.0	67.0	66.0					1																	6008219		2164	4267	6431	5930806	SO:0001819	synonymous_variant	261734	exon8			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.903G>A	1.37:g.6008219C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5930806	NM_015102	Q8IWC0	Silent	SNP	ENST00000378156.4	37	CCDS44052.1																																																																																				0.607	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
CHD5	26038	broad.mit.edu	37	1	6181217	6181217	+	Silent	SNP	C	C	T	rs139651442	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:6181217C>T	ENST00000262450.3	-	33	4959	c.4860G>A	c.(4858-4860)gaG>gaA	p.E1620E	CHD5_ENST00000378021.1_Silent_p.E477E	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E1620E(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTCTGGCCGCTCCTCTCGGG	0.657																																					p.E1620E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4860A	1						.	C		0,4406		0,0,2203	41.0	46.0	44.0		4860	3.6	1.0	1	dbSNP_134	44	9,8591	5.7+/-21.5	0,9,4291	no	coding-synonymous	CHD5	NM_015557.2		0,9,6494	TT,TC,CC		0.1047,0.0,0.0692		1620/1955	6181217	9,12997	2203	4300	6503	6103804	SO:0001819	synonymous_variant	26038	exon33			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4860G>A	1.37:g.6181217C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6103804	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CHD5	26038	broad.mit.edu	37	1	6228305	6228305	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:6228305C>A	ENST00000262450.3	-	2	211	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.D38Y(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGAAAAAGTCATCGAAGGCT	0.493																																					p.D38Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112T	1						.						160.0	163.0	162.0					1																	6228305		2203	4300	6503	6150892	SO:0001583	missense	26038	exon2			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.112G>T	1.37:g.6228305C>A	ENSP00000262450:p.Asp38Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	6150892	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105436	0.56291	.	.	ENSG00000116254	ENST00000262450	D	0.91945	-2.94	5.09	5.09	0.68999	.	0.246007	0.24638	U	0.036837	D	0.89132	0.6628	L	0.50333	1.59	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	D	0.90599	0.4543	10	0.66056	D	0.02	-26.6856	15.1973	0.73104	0.0:1.0:0.0:0.0	.	38	Q8TDI0	CHD5_HUMAN	Y	38	ENSP00000262450:D38Y	ENSP00000262450:D38Y	D	-	1	0	CHD5	6150892	0.976000	0.34144	0.777000	0.31699	0.627000	0.37826	2.767000	0.47637	2.349000	0.79799	0.313000	0.20887	GAC		0.493	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
TAS1R1	80835	broad.mit.edu	37	1	6639396	6639396	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:6639396A>G	ENST00000333172.6	+	6	2471	c.2278A>G	c.(2278-2280)Aaa>Gaa	p.K760E	TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Missense_Mutation_p.K506E	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	760					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.K760E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAACGAGGCCAAATGTGTCAC	0.562																																					p.K506E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1516G	1						.						195.0	163.0	174.0					1																	6639396		2203	4300	6503	6561983	SO:0001583	missense	80835	exon5				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2278A>G	1.37:g.6639396A>G	ENSP00000331867:p.Lys760Glu	Somatic		Capture	Illumina HiSeq	Phase_I	6561983	NM_177540	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.177087|5.177087	0.94846|0.94846	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000351136|ENST00000415267	D;D|.	0.90900|.	-2.75;-2.75|.	5.18|5.18	5.18|5.18	0.71444|0.71444	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78868|0.78868	0.4351|0.4351	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.97110|.	0.991;1.0|.	T|T	0.82068|0.82068	-0.0640|-0.0640	10|5	0.87932|.	D|.	0|.	.|.	14.2288|14.2288	0.65877|0.65877	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	506;760|.	Q7RTX1-2;Q7RTX1|.	.;TS1R1_HUMAN|.	E|R	760;506|217	ENSP00000331867:K760E;ENSP00000312558:K506E|.	ENSP00000331867:K760E|.	K|Q	+|+	1|2	0|0	TAS1R1|TAS1R1	6561983|6561983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.108000|6.108000	0.71522|0.71522	1.945000|1.945000	0.56424|0.56424	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.562	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
RERE	473	broad.mit.edu	37	1	8425873	8425873	+	Splice_Site	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:8425873G>T	ENST00000337907.3	-	14	2080	c.1446C>A	c.(1444-1446)ttC>ttA	p.F482L	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Splice_Site_p.F482L|RERE_ENST00000400908.2_Splice_Site_p.F482L|RERE_ENST00000377464.1_Splice_Site_p.F214L|RERE_ENST00000460659.1_5'Flank	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	482					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F482L(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCTACTCACAGAATTCACTGG	0.632																																					p.F482L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1446A	1						.						73.0	79.0	77.0					1																	8425873		2203	4300	6503	8348460	SO:0001630	splice_region_variant	473	exon14			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1447+1C>A	1.37:g.8425873G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8348460	NM_012102	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908020	0.52333	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T	0.40756	1.02;1.03;1.02	5.81	2.91	0.33838	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.58432	D	0.999994	D;D	0.69078	0.997;0.982	D;D	0.70716	0.97;0.952	T	0.07214	-1.0784	9	0.13853	T	0.58	-4.674	10.2004	0.43080	0.2152:0.0:0.7848:0.0	.	214;482	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	482;214;482;482	ENSP00000338629:F482L;ENSP00000366684:F214L;ENSP00000383700:F482L	ENSP00000338629:F482L	F	-	3	2	RERE	8348460	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.734000	0.68580	0.788000	0.33755	0.650000	0.86243	TTC		0.632	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		Missense_Mutation
H6PD	9563	broad.mit.edu	37	1	9324103	9324103	+	Silent	SNP	C	C	T	rs368303814		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:9324103C>T	ENST00000377403.2	+	5	1853	c.1551C>T	c.(1549-1551)agC>agT	p.S517S	H6PD_ENST00000602477.1_Silent_p.S528S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	517	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.S517S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		AGTTCAGTAGCGGCCGGTTGT	0.632																																					p.S517S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1551T	1						.	C		0,4404		0,0,2202	68.0	83.0	78.0		1551	0.8	0.0	1		78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	H6PD	NM_004285.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		517/792	9324103	2,13002	2202	4300	6502	9246690	SO:0001819	synonymous_variant	9563	exon5			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1551C>T	1.37:g.9324103C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9246690	NM_004285	Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	CCDS101.1																																																																																				0.632	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285	
TMEM57	55219	broad.mit.edu	37	1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	591					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.R591W(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGCAAAGCGGCAGCTCGA	0.567																																					p.R591W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1771T	1						.						78.0	64.0	69.0					1																	25818054		2203	4300	6503	25690641	SO:0001583	missense	55219	exon10			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1771C>T	1.37:g.25818054C>T	ENSP00000363463:p.Arg591Trp	Somatic		Capture	Illumina HiSeq	Phase_I	25690641	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751209	0.69533	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92567	0.6063	10	0.87932	D	0	-10.8737	13.7887	0.63126	0.5177:0.4823:0.0:0.0	.	233;364;591	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	364;233;591	ENSP00000382668:R364W;ENSP00000382666:R233W;ENSP00000363463:R591W	ENSP00000363463:R591W	R	+	1	2	TMEM57	25690641	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.343000	0.44001	0.694000	0.31654	-0.309000	0.09137	CGG		0.567	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
ZNF593	51042	broad.mit.edu	37	1	26496949	26496949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:26496949C>T	ENST00000374266.5	+	2	354	c.241C>T	c.(241-243)Cga>Tga	p.R81*	ZNF593_ENST00000270812.5_Nonsense_Mutation_p.R81*|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	81					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R81*(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCACTTCCGATCCAAAGA	0.507																																					p.R81X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C241T	1						.						229.0	228.0	228.0					1																	26496949		2203	4300	6503	26369536	SO:0001587	stop_gained	51042	exon2			D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.241C>T	1.37:g.26496949C>T	ENSP00000363384:p.Arg81*	Somatic		Capture	Illumina HiSeq	Phase_I	26369536	NM_015871	B2R4S0|Q5T2H7	Nonsense_Mutation	SNP	ENST00000374266.5	37	CCDS275.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340710	0.81911	.	.	ENSG00000142684	ENST00000374266;ENST00000270812	.	.	.	5.02	3.98	0.46160	.	0.109289	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-20.2615	10.1575	0.42831	0.3352:0.6648:0.0:0.0	.	.	.	.	X	81	.	ENSP00000270812:R81X	R	+	1	2	ZNF593	26369536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.306000	0.43673	2.496000	0.84212	0.655000	0.94253	CGA		0.507	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871	
CEP85	64793	broad.mit.edu	37	1	26597578	26597578	+	Nonsense_Mutation	SNP	C	C	T	rs560358188		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:26597578C>T	ENST00000252992.4	+	10	1854	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	CEP85_ENST00000451429.2_Nonsense_Mutation_p.R524*|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	575						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.R575*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CTGGCAGAAGCGATACGATTC	0.507																																					p.R575X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1723T	1						.						120.0	107.0	111.0					1																	26597578		2203	4300	6503	26470165	SO:0001587	stop_gained	64793	exon10			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1723C>T	1.37:g.26597578C>T	ENSP00000252992:p.Arg575*	Somatic		Capture	Illumina HiSeq	Phase_I	26470165	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Nonsense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863042	0.71949	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	.	.	.	5.28	4.37	0.52481	.	0.199316	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.2661	12.963	0.58468	0.0:0.1712:0.8288:0.0	.	.	.	.	X	524;575	.	ENSP00000252992:R575X	R	+	1	2	CEP85	26470165	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	3.228000	0.51270	1.449000	0.47699	-0.165000	0.13383	CGA		0.507	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778	
FGR	2268	broad.mit.edu	37	1	27939529	27939529	+	Missense_Mutation	SNP	G	G	A	rs371312816		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:27939529G>A	ENST00000374005.3	-	13	1774	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	FGR_ENST00000374004.1_Missense_Mutation_p.R496C|FGR_ENST00000545953.1_Missense_Mutation_p.R430C|FGR_ENST00000399173.1_Missense_Mutation_p.R496C	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)	p.R496C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCCAGACGCCAGGTCTGT	0.607																																					p.R496C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1486T	1						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	80.0	68.0	72.0		1486,1486,1486	4.0	1.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FGR	NM_001042729.1,NM_001042747.1,NM_005248.2	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	496/530,496/530,496/530	27939529	1,13005	2203	4300	6503	27812116	SO:0001583	missense	2268	exon13			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1486C>T	1.37:g.27939529G>A	ENSP00000363117:p.Arg496Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27812116	NM_001042747	D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	CCDS305.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224628	0.79576	0.0	1.16E-4	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	4.9	3.98	0.46160	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.241065	0.28011	N	0.016944	D	0.85531	0.5718	L	0.41961	1.31	0.42623	D	0.993353	D	0.76494	0.999	P	0.61201	0.885	D	0.86691	0.1923	10	0.87932	D	0	.	12.4461	0.55651	0.0833:0.0:0.9167:0.0	.	496	P09769	FGR_HUMAN	C	496;430;496;496;496	ENSP00000363117:R496C;ENSP00000445302:R430C;ENSP00000382126:R496C;ENSP00000363116:R496C;ENSP00000363115:R496C	ENSP00000363115:R496C	R	-	1	0	FGR	27812116	0.985000	0.35326	1.000000	0.80357	0.898000	0.52572	1.735000	0.38176	1.186000	0.42985	0.591000	0.81541	CGT		0.607	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248	
STX12	23673	broad.mit.edu	37	1	28146226	28146226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:28146226C>T	ENST00000373943.4	+	8	840	c.715C>T	c.(715-717)Cga>Tga	p.R239*	RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	239	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.R239*(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTTACAGCGAGCTGCTTA	0.443																																					p.R239X	Ovarian(5;5 342 2097 9488 34083)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C715T	1						.						115.0	96.0	102.0					1																	28146226		2203	4300	6503	28018813	SO:0001587	stop_gained	23673	exon8			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.715C>T	1.37:g.28146226C>T	ENSP00000363054:p.Arg239*	Somatic		Capture	Illumina HiSeq	Phase_I	28018813	NM_177424	B1AJQ7|O95564	Nonsense_Mutation	SNP	ENST00000373943.4	37	CCDS310.1	.	.	.	.	.	.	.	.	.	.	C	36	5.797624	0.96952	.	.	ENSG00000117758	ENST00000373943	.	.	.	5.53	3.59	0.41128	.	0.048599	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-12.8457	9.3437	0.38096	0.454:0.4328:0.1132:0.0	.	.	.	.	X	239	.	ENSP00000363054:R239X	R	+	1	2	STX12	28018813	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.091000	0.41691	0.638000	0.30545	0.557000	0.71058	CGA		0.443	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424	
DNAJC8	22826	broad.mit.edu	37	1	28555496	28555496	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:28555496C>T	ENST00000263697.4	-	2	143	c.117G>A	c.(115-117)tcG>tcA	p.S39S	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	39					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)		p.S39S(1)		kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGATTTTTCGAAGTTAGAA	0.363																																					p.S39S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G117A	1						.						115.0	101.0	106.0					1																	28555496		1829	4093	5922	28428083	SO:0001819	synonymous_variant	22826	exon2			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.117G>A	1.37:g.28555496C>T		Somatic		Capture	Illumina HiSeq	Phase_I	28428083	NM_014280	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Silent	SNP	ENST00000263697.4	37	CCDS41292.1																																																																																				0.363	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280	
PHACTR4	65979	broad.mit.edu	37	1	28800267	28800267	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:28800267C>A	ENST00000373839.3	+	7	1286	c.1025C>A	c.(1024-1026)tCt>tAt	p.S342Y	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S352Y	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	342	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S352Y(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTCGCTCTCCGTCCCCC	0.512																																					p.S352Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1055A	1						.						185.0	193.0	190.0					1																	28800267		2070	4200	6270	28672854	SO:0001583	missense	65979	exon6			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1025C>A	1.37:g.28800267C>A	ENSP00000362945:p.Ser342Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	28672854	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722607	0.48728	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.25912	1.77;1.78	5.47	5.47	0.80525	.	0.246336	0.41712	D	0.000834	T	0.39172	0.1068	L	0.54323	1.7	0.41551	D	0.988572	P;P	0.52692	0.955;0.924	P;P	0.51355	0.667;0.548	T	0.14364	-1.0475	10	0.56958	D	0.05	.	18.2996	0.90160	0.0:1.0:0.0:0.0	.	352;342	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Y	342;352;341	ENSP00000362945:S342Y;ENSP00000362942:S352Y	ENSP00000362942:S352Y	S	+	2	0	PHACTR4	28672854	0.215000	0.23574	0.469000	0.27204	0.068000	0.16541	4.211000	0.58507	2.566000	0.86566	0.650000	0.86243	TCT		0.512	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
GMEB1	10691	broad.mit.edu	37	1	29041101	29041101	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:29041101G>A	ENST00000294409.2	+	10	1628	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.S503N|GMEB1_ENST00000361872.4_Missense_Mutation_p.S503N	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	513					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S503N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTTGAAAGCACCTCAGAG	0.547																																					p.S513N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1538A	1						.						68.0	57.0	60.0					1																	29041101		2203	4300	6503	28913688	SO:0001583	missense	10691	exon10			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1538G>A	1.37:g.29041101G>A	ENSP00000294409:p.Ser513Asn	Somatic		Capture	Illumina HiSeq	Phase_I	28913688	NM_006582	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	3.890	-0.024188	0.07634	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.55760	0.5;0.5;0.5	5.75	4.83	0.62350	.	0.104694	0.64402	D	0.000004	T	0.30823	0.0777	N	0.08118	0	0.23464	N	0.997625	B;B	0.23650	0.089;0.039	B;B	0.19391	0.025;0.017	T	0.14476	-1.0471	10	0.23302	T	0.38	-14.0972	11.8826	0.52583	0.0821:0.0:0.9179:0.0	.	513;503	Q9Y692;B1AT47	GMEB1_HUMAN;.	N	503;503;513	ENSP00000362922:S503N;ENSP00000355186:S503N;ENSP00000294409:S513N	ENSP00000294409:S513N	S	+	2	0	GMEB1	28913688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	1.423000	0.47198	0.655000	0.94253	AGC		0.547	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	
EPB41	2035	broad.mit.edu	37	1	29314089	29314089	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:29314089A>C	ENST00000343067.4	+	2	267	c.140A>C	c.(139-141)aAt>aCt	p.N47T	EPB41_ENST00000373798.1_Missense_Mutation_p.N47T|EPB41_ENST00000373797.1_Missense_Mutation_p.N47T|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.N47T|EPB41_ENST00000398863.2_Missense_Mutation_p.N47T|EPB41_ENST00000356093.2_Missense_Mutation_p.N47T|Y_RNA_ENST00000383977.1_RNA	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	47					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.N47T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAAGGAGATAATTGGTGTGAA	0.468																																					p.N47T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A140C	1						.						186.0	187.0	187.0					1																	29314089		2203	4300	6503	29186676	SO:0001583	missense	2035	exon2			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.140A>C	1.37:g.29314089A>C	ENSP00000345259:p.Asn47Thr	Somatic		Capture	Illumina HiSeq	Phase_I	29186676	NM_203343	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	A	2.042	-0.419920	0.04734	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.63;-1.59;-1.8;-1.78	5.6	4.48	0.54585	.	1.117670	0.06549	N	0.744705	T	0.73063	0.3539	N	0.14661	0.345	0.09310	N	1	P;B;B;P;P	0.36753	0.568;0.06;0.163;0.515;0.515	B;B;B;B;B	0.38954	0.195;0.03;0.147;0.286;0.147	T	0.61554	-0.7039	10	0.33141	T	0.24	.	8.2097	0.31476	0.83:0.0:0.17:0.0	.	47;47;47;47;47	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	T	64;47;47;47;47;47;47;47;47	ENSP00000345259:N47T;ENSP00000348397:N47T;ENSP00000381839:N47T;ENSP00000290100:N47T;ENSP00000362904:N47T;ENSP00000362903:N47T	ENSP00000345259:N47T	N	+	2	0	EPB41	29186676	0.073000	0.21202	0.920000	0.36463	0.031000	0.12232	1.284000	0.33249	0.959000	0.37980	0.529000	0.55759	AAT		0.468	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
PTPRU	10076	broad.mit.edu	37	1	29602121	29602121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:29602121C>T	ENST00000345512.3	+	8	1435	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.R436*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.R436*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.R436*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.R436*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.R436*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	436	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R436*(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCAGACCATCCGAGAGTGTGT	0.562																																					p.R436X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1306T	1						.						158.0	131.0	140.0					1																	29602121		2203	4300	6503	29474708	SO:0001587	stop_gained	10076	exon8			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1306C>T	1.37:g.29602121C>T	ENSP00000334941:p.Arg436*	Somatic		Capture	Illumina HiSeq	Phase_I	29474708	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	37	6.438356	0.97568	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	5.4	5.4	0.78164	.	0.069909	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5309	0.90992	0.0:1.0:0.0:0.0	.	.	.	.	X	436	.	.	R	+	1	2	PTPRU	29474708	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	2.837000	0.48191	2.695000	0.91970	0.643000	0.83706	CGA		0.562	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
LAPTM5	7805	broad.mit.edu	37	1	31210496	31210496	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:31210496C>A	ENST00000294507.3	-	6	635	c.561G>T	c.(559-561)atG>atT	p.M187I	MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	187					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.M187I(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGATCATCATCTTGATGA	0.522																																					p.M187I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G561T	1						.						214.0	186.0	195.0					1																	31210496		2203	4300	6503	30983083	SO:0001583	missense	7805	exon6			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.561G>T	1.37:g.31210496C>A	ENSP00000294507:p.Met187Ile	Somatic		Capture	Illumina HiSeq	Phase_I	30983083	NM_006762	Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282281	0.23392	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.46063	0.88	5.52	3.55	0.40652	.	0.657638	0.15794	N	0.244293	T	0.25865	0.0630	L	0.27053	0.805	0.24898	N	0.992121	B	0.02656	0.0	B	0.09377	0.004	T	0.14531	-1.0469	10	0.19147	T	0.46	-17.9865	7.0186	0.24902	0.0:0.7342:0.174:0.0918	.	187	Q13571	LAPM5_HUMAN	I	187	ENSP00000294507:M187I	ENSP00000294507:M187I	M	-	3	0	LAPTM5	30983083	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	1.312000	0.33574	1.328000	0.45358	0.563000	0.77884	ATG		0.522	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762	
PUM1	9698	broad.mit.edu	37	1	31418272	31418272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:31418272C>T	ENST00000257075.5	-	18	3002	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D	PUM1_ENST00000373747.3_Missense_Mutation_p.G973D|PUM1_ENST00000373741.4_Missense_Mutation_p.G1008D|PUM1_ENST00000440538.2_Missense_Mutation_p.G946D|PUM1_ENST00000424085.2_Missense_Mutation_p.G728D|PUM1_ENST00000373742.2_Missense_Mutation_p.G911D|PUM1_ENST00000426105.2_Missense_Mutation_p.G972D|PUM1_ENST00000423018.2_Missense_Mutation_p.G828D	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	970	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.G970D(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CACGTGATTGCCATTCTGATC	0.443																																					p.G972D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2915A	1						.						132.0	118.0	123.0					1																	31418272		2203	4300	6503	31190859	SO:0001583	missense	9698	exon18			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2909G>A	1.37:g.31418272C>T	ENSP00000257075:p.Gly970Asp	Somatic		Capture	Illumina HiSeq	Phase_I	31190859	NM_001020658	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.102069|5.102069	0.94245|0.94245	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|.	0.24723|.	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.046039|.	0.85682|.	D|.	0.000000|.	D|.	0.91660|.	0.7364|.	H|H	0.99475|0.99475	4.585|4.585	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.998;1.0;0.998;1.0;0.996;0.998;0.998;1.0|.	D|.	0.95244|.	0.8354|.	10|.	0.87932|.	D|.	0|.	-7.3464|-7.3464	18.5995|18.5995	0.91242|0.91242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	911;828;1008;946;970;972;973;972|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	D|X	728;970;973;710;972;946;1008;828;911;123|908;683	ENSP00000400141:G728D;ENSP00000257075:G970D;ENSP00000362852:G973D;ENSP00000391723:G972D;ENSP00000401777:G946D;ENSP00000362846:G1008D;ENSP00000399440:G828D;ENSP00000362847:G911D;ENSP00000431213:G123D|.	ENSP00000257075:G970D|.	G|W	-|-	2|3	0|0	PUM1|PUM1	31190859|31190859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.651000|7.651000	0.83577|0.83577	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.443	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
PUM1	9698	broad.mit.edu	37	1	31426705	31426705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:31426705C>T	ENST00000257075.5	-	15	2540	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	PUM1_ENST00000373747.3_Missense_Mutation_p.R817H|PUM1_ENST00000373741.4_Missense_Mutation_p.R852H|PUM1_ENST00000440538.2_Missense_Mutation_p.R790H|PUM1_ENST00000424085.2_Missense_Mutation_p.R574H|PUM1_ENST00000373742.2_Missense_Mutation_p.R757H|PUM1_ENST00000426105.2_Missense_Mutation_p.R816H|PUM1_ENST00000423018.2_Missense_Mutation_p.R672H	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	816					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.R816H(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATATCGCAAACGAGAGGAAGA	0.522																																					p.R816H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2447A	1						.						157.0	163.0	161.0					1																	31426705		2203	4300	6503	31199292	SO:0001583	missense	9698	exon15			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2447G>A	1.37:g.31426705C>T	ENSP00000257075:p.Arg816His	Somatic		Capture	Illumina HiSeq	Phase_I	31199292	NM_001020658	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502792	0.85176	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.19806	2.16;2.12;2.38;2.38;2.41;2.37;2.45;2.13	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;D;D;D;P;D;D	0.69654	0.891;0.891;0.924;0.965;0.924;0.883;0.924;0.948	T	0.28618	-1.0038	10	0.48119	T	0.1	-7.6242	14.8379	0.70197	0.0:0.9304:0.0:0.0696	.	757;672;852;790;816;816;817;816	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	H	574;816;817;554;816;790;852;672;757	ENSP00000400141:R574H;ENSP00000257075:R816H;ENSP00000362852:R817H;ENSP00000391723:R816H;ENSP00000401777:R790H;ENSP00000362846:R852H;ENSP00000399440:R672H;ENSP00000362847:R757H	ENSP00000257075:R816H	R	-	2	0	PUM1	31199292	1.000000	0.71417	0.277000	0.24703	0.982000	0.71751	7.818000	0.86416	1.495000	0.48549	-0.150000	0.13652	CGT		0.522	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
TINAGL1	64129	broad.mit.edu	37	1	32050856	32050856	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:32050856G>A	ENST00000271064.7	+	8	1038	c.962G>A	c.(961-963)cGc>cAc	p.R321H	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R290H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	321					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R321H(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGGGGCAAGCGCCAGGCCACT	0.607																																					p.R321H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	1						.						89.0	100.0	96.0					1																	32050856		2203	4300	6503	31823443	SO:0001583	missense	64129	exon8			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.962G>A	1.37:g.32050856G>A	ENSP00000271064:p.Arg321His	Somatic		Capture	Illumina HiSeq	Phase_I	31823443	NM_022164	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	34	5.411248	0.96072	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.84146	-1.81;-1.81	5.18	5.18	0.71444	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	N	0.16166	0.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87114	0.2187	10	0.40728	T	0.16	.	18.6662	0.91491	0.0:0.0:1.0:0.0	.	290;321	B4DPK6;Q9GZM7	.;TINAL_HUMAN	H	290;321;309	ENSP00000395137:R290H;ENSP00000271064:R321H	ENSP00000271064:R321H	R	+	2	0	TINAGL1	31823443	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.566000	0.98157	2.586000	0.87340	0.561000	0.74099	CGC		0.607	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164	
COL16A1	1307	broad.mit.edu	37	1	32137216	32137216	+	Splice_Site	SNP	G	G	A	rs368007133		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:32137216G>A	ENST00000373672.3	-	48	3666	c.3150C>T	c.(3148-3150)atC>atT	p.I1050I	COL16A1_ENST00000271069.6_Splice_Site_p.I1050I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1050	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.I1050I(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGATACTTACGATAGGGCCTG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18584	0.0		0.0	False		,,,				2504	0.0				p.I1050I	Colon(143;498 1786 21362 25193 36625)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3150T	1						.						47.0	54.0	52.0					1																	32137216		1925	4130	6055	31909803	SO:0001630	splice_region_variant	1307	exon48			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3150+1C>T	1.37:g.32137216G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31909803	NM_001856	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																				0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Silent
TSSK3	81629	broad.mit.edu	37	1	32829233	32829233	+	Silent	SNP	C	C	T	rs61746387	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:32829233C>T	ENST00000373534.3	+	2	688	c.183C>T	c.(181-183)atC>atT	p.I61I	FAM229A_ENST00000415596.1_Intron|FAM229A_ENST00000432622.1_5'Flank	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I61I(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				AGCTCCAAATCGTCCGTACCC	0.567													C|||	64	0.0127796	0.0454	0.0014	5008	,	,		18850	0.002		0.001	False		,,,				2504	0.0				p.I61I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	1						.	C		195,4211	120.8+/-158.4	3,189,2011	64.0	68.0	67.0		183	-8.3	0.2	1	dbSNP_129	67	0,8600		0,0,4300	no	coding-synonymous	TSSK3	NM_052841.3		3,189,6311	TT,TC,CC		0.0,4.4258,1.4993		61/269	32829233	195,12811	2203	4300	6503	32601820	SO:0001819	synonymous_variant	81629	exon2			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.183C>T	1.37:g.32829233C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32601820	NM_052841	Q5TEE5	Silent	SNP	ENST00000373534.3	37	CCDS362.1																																																																																				0.567	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1		
S100PBP	64766	broad.mit.edu	37	1	33292001	33292001	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:33292001T>G	ENST00000373475.5	+	3	555	c.301T>G	c.(301-303)Tcg>Gcg	p.S101A	S100PBP_ENST00000373476.1_Missense_Mutation_p.S101A|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.S101A	NM_022753.3	NP_073590.2			S100P binding protein									p.S101A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAAAAATTCATCGTACAGCCT	0.453																																					p.S101A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T301G	1						.						59.0	54.0	56.0					1																	33292001		2203	4300	6503	33064588	SO:0001583	missense	64766	exon3			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.301T>G	1.37:g.33292001T>G	ENSP00000362574:p.Ser101Ala	Somatic		Capture	Illumina HiSeq	Phase_I	33064588	NM_001017406		Missense_Mutation	SNP	ENST00000373475.5	37	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.686910	0.00738	.	.	ENSG00000116497	ENST00000530710;ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000526230;ENST00000531256;ENST00000482212	.	.	.	5.32	0.414	0.16406	.	0.782553	0.10998	N	0.610856	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B;B	0.21225	0.053;0.026	B;B	0.16289	0.015;0.01	T	0.29792	-1.0000	9	0.15499	T	0.54	1.759	4.0657	0.09859	0.0:0.2721:0.1759:0.552	.	101;101	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	A	101	.	ENSP00000349117:S101A	S	+	1	0	S100PBP	33064588	0.139000	0.22563	0.010000	0.14722	0.107000	0.19398	0.547000	0.23299	0.177000	0.19895	0.533000	0.62120	TCG		0.453	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753	
PHC2	1912	broad.mit.edu	37	1	33794725	33794725	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:33794725G>A	ENST00000257118.5	-	13	2221	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	PHC2_ENST00000373422.3_Missense_Mutation_p.S329L|PHC2_ENST00000373416.1_Missense_Mutation_p.S188L|PHC2_ENST00000419414.2_Missense_Mutation_p.S724L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.S694L|PHC2_ENST00000373418.3_Missense_Mutation_p.S188L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	723					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S723L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCAGTAACCGAAAGGGGCAC	0.517																																					p.S723L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2168T	1						.						65.0	59.0	61.0					1																	33794725		2203	4300	6503	33567312	SO:0001583	missense	1912	exon13			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2168C>T	1.37:g.33794725G>A	ENSP00000257118:p.Ser723Leu	Somatic		Capture	Illumina HiSeq	Phase_I	33567312	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.799563|4.799563	0.90538|0.90538	.|.	.|.	ENSG00000134686|ENSG00000134686	ENST00000307890|ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000419414;ENST00000373416	.|T;T;T;T	.|0.50813	.|1.77;1.34;0.73;1.77	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.061244	.|0.64402	.|D	.|0.000002	T|T	0.58552|0.58552	0.2130|0.2130	L|L	0.42245|0.42245	1.32|1.32	0.53005|0.53005	D|D	0.999969|0.999969	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.998	.|P;P;P;P	.|0.59115	.|0.788;0.788;0.788;0.852	T|T	0.56245|0.56245	-0.8011|-0.8011	6|10	0.62326|0.51188	D|T	0.03|0.08	-13.5703|-13.5703	17.6713|17.6713	0.88218|0.88218	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|724;695;723;138	.|A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.|.;.;PHC2_HUMAN;.	W|L	301|694;723;329;188;724;188	.|ENSP00000389436:S694L;ENSP00000257118:S723L;ENSP00000362521:S329L;ENSP00000391440:S724L	ENSP00000310685:R301W|ENSP00000257118:S723L	R|S	-|-	1|2	2|0	PHC2|PHC2	33567312|33567312	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.986000|0.986000	0.74619|0.74619	7.130000|7.130000	0.77235|0.77235	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.517	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
ZSCAN20	7579	broad.mit.edu	37	1	33945241	33945241	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:33945241A>T	ENST00000361328.3	+	2	505	c.352A>T	c.(352-354)Agt>Tgt	p.S118C	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.S118C	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	118	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S118C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCACCCTGAGAGTGGTGAGGA	0.602																																					p.S118C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A352T	1						.						35.0	40.0	38.0					1																	33945241		2201	4300	6501	33717828	SO:0001583	missense	7579	exon2			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.352A>T	1.37:g.33945241A>T	ENSP00000355053:p.Ser118Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33717828	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664306	0.67700	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.08720	3.06	4.97	4.97	0.65823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.102441	0.43919	D	0.000509	T	0.32882	0.0844	M	0.91717	3.235	0.37909	D	0.93129	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.91635	0.875;0.997;0.999	T	0.39683	-0.9602	10	0.87932	D	0	-6.869	8.0731	0.30701	0.8199:0.0:0.0:0.18	.	118;118;118	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	C	118;118;118;52;52	ENSP00000362512:S118C	ENSP00000324450:S118C	S	+	1	0	ZSCAN20	33717828	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	3.319000	0.51983	2.097000	0.63578	0.519000	0.50382	AGT		0.602	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
ZSCAN20	7579	broad.mit.edu	37	1	33960618	33960618	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:33960618A>C	ENST00000361328.3	+	8	2827	c.2674A>C	c.(2674-2676)Agt>Cgt	p.S892R		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	892					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S892R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCCCTCATTAGTCACCAAAG	0.488																																					p.S892R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2674C	1						.						98.0	106.0	104.0					1																	33960618		2055	4219	6274	33733205	SO:0001583	missense	7579	exon8			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2674A>C	1.37:g.33960618A>C	ENSP00000355053:p.Ser892Arg	Somatic		Capture	Illumina HiSeq	Phase_I	33733205	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686577	0.29962	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	6.03	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.271804	0.32918	N	0.005483	T	0.28665	0.0710	N	0.02391	-0.57	0.09310	N	1	B;P	0.51653	0.138;0.947	B;P	0.59357	0.037;0.856	T	0.19582	-1.0301	9	0.38643	T	0.18	-4.5769	11.7455	0.51817	0.8532:0.1468:0.0:0.0	.	891;892	P17040-3;P17040	.;ZSC20_HUMAN	R	892;826;826	.	ENSP00000324450:S892R	S	+	1	0	ZSCAN20	33733205	0.000000	0.05858	0.992000	0.48379	0.991000	0.79684	-0.328000	0.07945	2.302000	0.77476	0.533000	0.62120	AGT		0.488	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
CSMD2	114784	broad.mit.edu	37	1	34087814	34087814	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:34087814T>C	ENST00000373380.1	-	16	2619	c.2399A>G	c.(2398-2400)tAc>tGc	p.Y800C	CSMD2_ENST00000373388.2_Missense_Mutation_p.Y26C|CSMD2_ENST00000373377.1_Missense_Mutation_p.Y26C|CSMD2_ENST00000373381.4_Missense_Mutation_p.Y1927C			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1887	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y1887C(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)				GATATCTGAGTAGAAATGAAG	0.502																																					p.Y1887C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5660G	1						.						166.0	153.0	158.0					1																	34087814		2203	4300	6503	33860401	SO:0001583	missense	114784	exon37			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	ENST00000373380.1:c.2399A>G	1.37:g.34087814T>C	ENSP00000362478:p.Tyr800Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33860401	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	T	13.31	2.199125	0.38806	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.75	5.75	0.90469	CUB (5);	0.063541	0.64402	D	0.000004	T	0.55242	0.1908	M	0.68317	2.08	0.45899	D	0.998749	B;B;B	0.19445	0.032;0.036;0.036	B;B;B	0.24394	0.053;0.021;0.021	T	0.54227	-0.8325	10	0.40728	T	0.16	.	10.1779	0.42950	0.1485:0.0:0.0:0.8515	.	800;1887;1927	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	C	1927;800;26;26	ENSP00000362479:Y1927C;ENSP00000362478:Y800C;ENSP00000362475:Y26C;ENSP00000362486:Y26C	ENSP00000241312:Y1887C	Y	-	2	0	CSMD2	33860401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.793000	0.55484	2.201000	0.70794	0.533000	0.62120	TAC		0.502	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
GJA4	2701	broad.mit.edu	37	1	35260419	35260419	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:35260419G>A	ENST00000342280.4	+	2	693	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	202					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)		p.R202H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TTTGTCTCTCGCCCCACGGAG	0.587																																					p.R202H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605A	1						.						108.0	95.0	99.0					1																	35260419		2203	4300	6503	35033006	SO:0001583	missense	2701	exon2			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.605G>A	1.37:g.35260419G>A	ENSP00000343676:p.Arg202His	Somatic		Capture	Illumina HiSeq	Phase_I	35033006	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055842	0.93793	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97404	-4.37;-4.37	5.66	5.66	0.87406	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99521	1.0958	10	0.87932	D	0	.	19.7503	0.96265	0.0:0.0:1.0:0.0	.	202;202	Q5JW71;P35212	.;CXA4_HUMAN	H	202	ENSP00000343676:R202H;ENSP00000409186:R202H	ENSP00000343676:R202H	R	+	2	0	GJA4	35033006	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.807000	0.99171	2.648000	0.89879	0.655000	0.94253	CGC		0.587	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060	
ZMYM4	9202	broad.mit.edu	37	1	35884071	35884071	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:35884071G>A	ENST00000314607.6	+	29	4417	c.4337G>A	c.(4336-4338)cGa>cAa	p.R1446Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.R1357Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1446					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1446Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGAGGAAACGAAATGAAGAT	0.393																																					p.R1446Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4337A	1						.						121.0	113.0	116.0					1																	35884071		2203	4300	6503	35656658	SO:0001583	missense	9202	exon29			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4337G>A	1.37:g.35884071G>A	ENSP00000322915:p.Arg1446Gln	Somatic		Capture	Illumina HiSeq	Phase_I	35656658	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584390	0.96578	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25085	1.82;1.85	5.84	5.84	0.93424	.	0.315320	0.33959	N	0.004389	T	0.47525	0.1450	L	0.55481	1.735	0.50313	D	0.999864	D	0.69078	0.997	D	0.63283	0.913	T	0.34800	-0.9814	10	0.72032	D	0.01	-7.1968	20.1381	0.98040	0.0:0.0:1.0:0.0	.	1446	Q5VZL5	ZMYM4_HUMAN	Q	1446;1357	ENSP00000322915:R1446Q;ENSP00000362394:R1357Q	ENSP00000322915:R1446Q	R	+	2	0	ZMYM4	35656658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.763000	0.94921	0.650000	0.86243	CGA		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
KIAA0319L	79932	broad.mit.edu	37	1	35917247	35917247	+	Missense_Mutation	SNP	T	T	C	rs541700984		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:35917247T>C	ENST00000325722.3	-	13	2278	c.2044A>G	c.(2044-2046)Aat>Gat	p.N682D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.N119D|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	682	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N682D(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAATGACATTCACAGAGCTC	0.478											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N682D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2044G	1						.						200.0	188.0	192.0					1																	35917247		2203	4300	6503	35689834	SO:0001583	missense	79932	exon13			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2044A>G	1.37:g.35917247T>C	ENSP00000318406:p.Asn682Asp	Somatic	859	Capture	Illumina HiSeq	Phase_I	35689834	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442728	0.63067	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.70282	2.56;-0.47;2.56;2.56	5.98	4.85	0.62838	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (1);	0.193530	0.53938	D	0.000050	T	0.60235	0.2253	N	0.21240	0.645	0.80722	D	1	P;P;B	0.43231	0.763;0.801;0.029	B;B;B	0.43990	0.311;0.438;0.046	T	0.59343	-0.7472	10	0.39692	T	0.17	-13.6655	11.534	0.50626	0.0:0.0696:0.0:0.9304	.	682;682;124	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	D	682;119;682;682	ENSP00000318406:N682D;ENSP00000362363:N119D;ENSP00000395883:N682D;ENSP00000407576:N682D	ENSP00000318406:N682D	N	-	1	0	KIAA0319L	35689834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.717000	0.61923	1.078000	0.41014	0.528000	0.53228	AAT		0.478	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
NCDN	23154	broad.mit.edu	37	1	36026370	36026370	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:36026370C>T	ENST00000373243.2	+	3	1001	c.618C>T	c.(616-618)gcC>gcT	p.A206A	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.A206A|NCDN_ENST00000373253.3_Silent_p.A189A	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	206					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.A189A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGCTGCTGCCGAGACACAGT	0.637																																					p.A189A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	1						.						34.0	35.0	35.0					1																	36026370		2203	4300	6503	35798957	SO:0001819	synonymous_variant	23154	exon3			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.618C>T	1.37:g.36026370C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35798957	NM_001014841	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	CCDS392.1																																																																																				0.637	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	
AGO3	192669	broad.mit.edu	37	1	36509116	36509116	+	Silent	SNP	C	C	T	rs145947091	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:36509116C>T	ENST00000373191.4	+	17	2590	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	AGO3_ENST00000246314.6_Silent_p.F513F|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	747	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.F747F(1)									CATATGAGTTCGATTTTTACC	0.348													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		17771	0.0		0.0	False		,,,				2504	0.0				p.F513F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1539T	1						.	C	,	17,4389	24.3+/-50.5	0,17,2186	126.0	117.0	120.0		2241,1539	3.5	1.0	1	dbSNP_134	120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	EIF2C3	NM_024852.3,NM_177422.2	,	0,21,6482	TT,TC,CC		0.0465,0.3858,0.1615	,	747/861,513/627	36509116	21,12985	2203	4300	6503	36281703	SO:0001819	synonymous_variant	192669	exon15			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2241C>T	1.37:g.36509116C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36281703	NM_177422	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																				0.348	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
SH3D21	79729	broad.mit.edu	37	1	36785362	36785362	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:36785362A>G	ENST00000426732.2	+	13	1035	c.750A>G	c.(748-750)ccA>ccG	p.P250P	SH3D21_ENST00000453908.2_Silent_p.P366P|SH3D21_ENST00000505871.1_Silent_p.P255P|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Silent_p.P12P			A4FU49	SH321_HUMAN	SH3 domain containing 21	250						extracellular vesicular exosome (GO:0070062)		p.P366P(1)|p.P12P(1)		endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGAGGCCCCCAGCTCCAGAGA	0.627																																					p.P255P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A765G	1						.						33.0	45.0	41.0					1																	36785362		2203	4298	6501	36557949	SO:0001819	synonymous_variant	79729	exon11			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.750A>G	1.37:g.36785362A>G		Somatic		Capture	Illumina HiSeq	Phase_I	36557949	NM_024676	B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	ENST00000426732.2	37																																																																																					0.627	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676	
MRPS15	64960	broad.mit.edu	37	1	36927752	36927752	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:36927752A>G	ENST00000373116.5	-	3	349	c.188T>C	c.(187-189)cTg>cCg	p.L63P	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	63				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). {ECO:0000305}.	translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L63P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCATCATCCAGCCTAGACTG	0.532																																					p.L63P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T188C	1						.						107.0	102.0	104.0					1																	36927752		2203	4300	6503	36700339	SO:0001583	missense	64960	exon3			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.188T>C	1.37:g.36927752A>G	ENSP00000362208:p.Leu63Pro	Somatic		Capture	Illumina HiSeq	Phase_I	36700339	NM_031280	B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	CCDS411.1	.	.	.	.	.	.	.	.	.	.	A	2.868	-0.234534	0.05983	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.19	2.86	0.33363	.	0.306092	0.36740	N	0.002426	T	0.16428	0.0395	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14868	-1.0457	9	0.52906	T	0.07	-0.7433	4.6298	0.12496	0.1685:0.0909:0.0:0.7405	.	63	P82914	RT15_HUMAN	P	63	.	ENSP00000362208:L63P	L	-	2	0	MRPS15	36700339	0.577000	0.26708	0.009000	0.14445	0.002000	0.02628	0.806000	0.27126	0.311000	0.23014	-0.270000	0.10280	CTG		0.532	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280	
GRIK3	2899	broad.mit.edu	37	1	37315979	37315979	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:37315979G>A	ENST00000373091.3	-	9	1275	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.A420V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	420					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.A420V(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCGGCCTTTGGCAACCTCAGT	0.562																																					p.A420V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1259T	1						.						134.0	119.0	124.0					1																	37315979		2203	4300	6503	37088566	SO:0001583	missense	2899	exon9			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1259C>T	1.37:g.37315979G>A	ENSP00000362183:p.Ala420Val	Somatic		Capture	Illumina HiSeq	Phase_I	37088566	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871925	0.33069	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11930	2.78;2.73	5.58	5.58	0.84498	.	0.311546	0.35936	N	0.002893	T	0.12860	0.0312	L	0.27053	0.805	0.34244	D	0.678014	B;B	0.14012	0.009;0.009	B;B	0.20184	0.028;0.017	T	0.13202	-1.0518	10	0.23302	T	0.38	.	19.5771	0.95449	0.0:0.0:1.0:0.0	.	420;420	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	420	ENSP00000362183:A420V;ENSP00000362185:A420V	ENSP00000362183:A420V	A	-	2	0	GRIK3	37088566	1.000000	0.71417	0.996000	0.52242	0.816000	0.46133	5.313000	0.65798	2.617000	0.88574	0.555000	0.69702	GCC		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
EPHA10	284656	broad.mit.edu	37	1	38227080	38227080	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:38227080C>T	ENST00000373048.4	-	3	846	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E283K|EPHA10_ENST00000319637.6_Missense_Mutation_p.E283K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	283					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.E283K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATACCTTCGCAGAAGTCA	0.667																																					p.E283K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G847A	1						.						65.0	69.0	68.0					1																	38227080		2148	4150	6298	37999667	SO:0001583	missense	284656	exon3			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.847G>A	1.37:g.38227080C>T	ENSP00000362139:p.Glu283Lys	Somatic		Capture	Illumina HiSeq	Phase_I	37999667	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860116	0.32884	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	D;D;T	0.97378	-4.36;-4.36;4.49	4.23	4.23	0.50019	.	0.167298	0.28566	N	0.014881	D	0.93979	0.8072	L	0.31664	0.95	0.80722	D	1	P;D	0.55800	0.837;0.973	B;P	0.49301	0.138;0.606	D	0.91757	0.5417	10	0.41790	T	0.15	.	5.6397	0.17557	0.0:0.6827:0.2051:0.1122	.	283;283	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	283	ENSP00000397746:E283K;ENSP00000362139:E283K;ENSP00000316395:E283K	ENSP00000316395:E283K	E	-	1	0	EPHA10	37999667	0.939000	0.31865	0.999000	0.59377	0.343000	0.28985	1.466000	0.35310	2.328000	0.79073	0.551000	0.68910	GAA		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
SF3A3	10946	broad.mit.edu	37	1	38442561	38442561	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:38442561G>T	ENST00000373019.4	-	12	1955	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	SF3A3_ENST00000448721.2_Missense_Mutation_p.L281I|SF3A3_ENST00000489537.1_5'Flank	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	334					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L334I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTACCCCGAGAATCTCTACA	0.383																																					p.L334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000A	1						.						134.0	135.0	135.0					1																	38442561		2202	4300	6502	38215148	SO:0001583	missense	10946	exon12			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1000C>A	1.37:g.38442561G>T	ENSP00000362110:p.Leu334Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38215148	NM_006802	D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	CCDS428.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681641	0.88542	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.69	4.78	0.61160	Domain of unknown function DUF3449 (1);	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.79475	2.455	0.80722	D	1	P;P	0.43314	0.803;0.712	P;B	0.55161	0.77;0.396	T	0.78866	-0.2035	9	0.72032	D	0.01	-5.1175	14.1002	0.65049	0.0727:0.0:0.9273:0.0	.	281;334	E7EUT8;Q12874	.;SF3A3_HUMAN	I	334;281	.	ENSP00000362110:L334I	L	-	1	0	SF3A3	38215148	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.505000	0.81655	1.426000	0.47256	0.585000	0.79938	CTC		0.383	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802	
RRAGC	64121	broad.mit.edu	37	1	39305238	39305238	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:39305238C>T	ENST00000373001.3	-	7	1363	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1			Ras-related GTP binding C									p.R396Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GATGGCGTTTCGTGGCGTGCC	0.562																																					p.R396Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187A	1						.						143.0	127.0	132.0					1																	39305238		2203	4300	6503	39077825	SO:0001583	missense	64121	exon7			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1187G>A	1.37:g.39305238C>T	ENSP00000362092:p.Arg396Gln	Somatic		Capture	Illumina HiSeq	Phase_I	39077825	NM_022157		Missense_Mutation	SNP	ENST00000373001.3	37	CCDS430.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258810	0.39896	.	.	ENSG00000116954	ENST00000373001	.	.	.	5.65	5.65	0.86999	.	0.105588	0.64402	D	0.000012	T	0.55657	0.1934	L	0.49350	1.555	0.46149	D	0.998898	B;B;B	0.27351	0.029;0.176;0.022	B;B;B	0.18561	0.006;0.022;0.009	T	0.52056	-0.8626	9	0.33940	T	0.23	-34.8402	15.2322	0.73401	0.0:0.86:0.14:0.0	.	362;330;396	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	Q	396	.	ENSP00000362092:R396Q	R	-	2	0	RRAGC	39077825	1.000000	0.71417	0.199000	0.23439	0.233000	0.25261	5.485000	0.66850	2.667000	0.90743	0.655000	0.94253	CGA		0.562	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157	
MACF1	23499	broad.mit.edu	37	1	39763308	39763308	+	Missense_Mutation	SNP	G	G	A	rs149023763		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:39763308G>A	ENST00000372915.3	+	20	2474	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MACF1_ENST00000545844.1_Missense_Mutation_p.R796Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R828Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R796Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R796Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R796Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R791Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	796					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R796Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGATGCACGAGAGCTGGAG	0.418																																					p.R796Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2387A	1						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	136.0	137.0		2387	5.1	1.0	1	dbSNP_134	137	0,8600		0,0,4300	no	missense	MACF1	NM_012090.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		796/5431	39763308	1,13005	2203	4300	6503	39535895	SO:0001583	missense	23499	exon22			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2387G>A	1.37:g.39763308G>A	ENSP00000362006:p.Arg796Gln	Somatic		Capture	Illumina HiSeq	Phase_I	39535895	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	18.44	3.625450	0.66901	2.27E-4	0.0	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	6.06	5.14	0.70334	.	.	.	.	.	D	0.90222	0.6943	L	0.37850	1.14	0.80722	D	1	P;B	0.48350	0.909;0.223	B;B	0.38428	0.273;0.038	D	0.89736	0.3930	9	0.36615	T	0.2	.	15.6503	0.77088	0.0663:0.0:0.9337:0.0	.	796;761	F8W8Q1;Q9UPN3-3	.;.	Q	796;796;796;796;796;754;945;956	ENSP00000439537:R796Q;ENSP00000362006:R796Q;ENSP00000354573:R796Q;ENSP00000313438:R796Q;ENSP00000444364:R796Q;ENSP00000435070:R754Q;ENSP00000437059:R945Q	ENSP00000313438:R796Q	R	+	2	0	MACF1	39535895	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	4.166000	0.58203	2.882000	0.98803	0.655000	0.94253	CGA		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:39801495C>A	ENST00000372915.3	+	36	9337	c.9250C>A	c.(9250-9252)Ctc>Atc	p.L3084I	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3084					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L1519I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAATTTAAGTCTCTGCTTGAC	0.403																																					p.L1519I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4555A	1						.						43.0	49.0	47.0					1																	39801495		2202	4300	6502	39574082	SO:0001583	missense	23499	exon1			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9250C>A	1.37:g.39801495C>A	ENSP00000362006:p.Leu3084Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39574082	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	2.677	-0.276160	0.05679	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71222	-0.55;0.35	5.23	-0.429	0.12303	.	1.243890	0.05633	N	0.582132	T	0.51329	0.1668	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.39231	-0.9624	10	0.54805	T	0.06	.	1.3539	0.02178	0.2044:0.3456:0.2775:0.1725	.	3084	Q9UPN3	MACF1_HUMAN	I	3084;1519	ENSP00000362006:L3084I;ENSP00000289893:L1519I	ENSP00000289893:L1519I	L	+	1	0	MACF1	39574082	0.000000	0.05858	0.161000	0.22692	0.302000	0.27658	-0.371000	0.07513	-0.039000	0.13602	-0.257000	0.10917	CTC		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
TRIT1	54802	broad.mit.edu	37	1	40313767	40313767	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:40313767G>T	ENST00000316891.5	-	6	720	c.706C>A	c.(706-708)Cta>Ata	p.L236I	TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.L236I|TRIT1_ENST00000537223.1_5'UTR|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	236	Interaction with isopentenylpyrophosphate transferase. {ECO:0000250}.				tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.L236I(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGCTCATCTAGAACTTGAATC	0.413																																					p.L236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706A	1						.						125.0	116.0	119.0					1																	40313767		2203	4300	6503	40086354	SO:0001583	missense	54802	exon6			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.706C>A	1.37:g.40313767G>T	ENSP00000321810:p.Leu236Ile	Somatic		Capture	Illumina HiSeq	Phase_I	40086354	NM_017646	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787570	0.70337	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000534869	T;T	0.70516	-0.49;-0.49	5.97	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.987;1.0	T	0.80710	-0.1261	9	.	.	.	-6.8001	9.0912	0.36612	0.3316:0.0:0.6684:0.0	.	236;236	Q9H3H1;Q9H3H1-4	MOD5_HUMAN;.	I	236;236;236;129	ENSP00000321810:L236I;ENSP00000361905:L236I	.	L	-	1	2	TRIT1	40086354	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	3.133000	0.50531	0.144000	0.18951	0.655000	0.94253	CTA		0.413	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646	
RLF	6018	broad.mit.edu	37	1	40661348	40661348	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:40661348A>C	ENST00000372771.4	+	4	546	c.519A>C	c.(517-519)caA>caC	p.Q173H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	173					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q173H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATAACCTACAAATATTGGTTC	0.358																																					p.Q173H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A519C	1						.						71.0	71.0	71.0					1																	40661348		2203	4300	6503	40433935	SO:0001583	missense	6018	exon4				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.519A>C	1.37:g.40661348A>C	ENSP00000361857:p.Gln173His	Somatic		Capture	Illumina HiSeq	Phase_I	40433935	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	9.223	1.033782	0.19590	.	.	ENSG00000117000	ENST00000372771	T	0.15017	2.46	5.1	3.98	0.46160	.	0.051868	0.85682	D	0.000000	T	0.10252	0.0251	L	0.28115	0.83	0.36853	D	0.888009	B	0.30584	0.286	B	0.25140	0.058	T	0.18681	-1.0329	10	0.33940	T	0.23	-10.8809	7.7139	0.28694	0.8399:0.0:0.1601:0.0	.	173	Q13129	RLF_HUMAN	H	173	ENSP00000361857:Q173H	ENSP00000361857:Q173H	Q	+	3	2	RLF	40433935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.786000	0.47790	1.919000	0.55581	0.377000	0.23210	CAA		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
SMAP2	64744	broad.mit.edu	37	1	40879875	40879875	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:40879875G>A	ENST00000539317.1	+	6	487	c.294G>A	c.(292-294)ccG>ccA	p.P98P	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	178	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P178P(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AAAGCTCCCCGAAATCCACAG	0.423																																					p.P173P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	1						.						86.0	85.0	85.0					1																	40879875		2203	4300	6503	40652462	SO:0001819	synonymous_variant	64744	exon6			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.294G>A	1.37:g.40879875G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40652462	NM_001198979	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	CCDS55593.1																																																																																				0.423	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733	
NFYC	4802	broad.mit.edu	37	1	41218824	41218824	+	Splice_Site	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:41218824G>T	ENST00000308733.5	+	4	299	c.293G>T	c.(292-294)aGa>aTa	p.R98I	NFYC_ENST00000425457.2_Splice_Site_p.R98I|NFYC_ENST00000372654.1_Splice_Site_p.R98I|NFYC_ENST00000440226.3_Splice_Site_p.R98I|NFYC_ENST00000427410.2_Splice_Site_p.R60I|NFYC_ENST00000447388.3_Splice_Site_p.R98I|NFYC_ENST00000372652.1_Splice_Site_p.R98I|NFYC_ENST00000372653.1_Splice_Site_p.R98I|NFYC_ENST00000456393.2_Splice_Site_p.R98I|NFYC_ENST00000372651.1_Splice_Site_p.R98I|MIR30E_ENST00000362104.1_RNA			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	98					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R98I(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTGTTACAGAGAAATGATATC	0.398																																					p.R98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293T	1						.						97.0	89.0	92.0					1																	41218824		2203	4300	6503	40991411	SO:0001630	splice_region_variant	4802	exon5			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.292-1G>T	1.37:g.41218824G>T		Somatic		Capture	Illumina HiSeq	Phase_I	40991411	NM_014223	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37		.	.	.	.	.	.	.	.	.	.	G	25.1	4.606724	0.87157	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.51;1.51;1.51;0.94;1.51;1.51;1.51;1.51;0.94;1.51;1.51;0.94;0.94;0.94	5.4	5.4	0.78164	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.999;0.996;0.997;0.994;0.994;0.999	D;D;D;D;D;D;D	0.87578	0.975;0.998;0.985;0.994;0.975;0.975;0.987	T	0.82494	-0.0429	10	0.87932	D	0	.	16.7079	0.85377	0.0:0.0:1.0:0.0	.	60;98;98;98;98;98;98	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	I	60;98;98;98;98;98;98;98;98;98;98;98;74;98	ENSP00000408315:R60I;ENSP00000404427:R98I;ENSP00000396620:R98I;ENSP00000397647:R98I;ENSP00000408867:R98I;ENSP00000361738:R98I;ENSP00000361737:R98I;ENSP00000361754:R98I;ENSP00000361736:R98I;ENSP00000361734:R98I;ENSP00000414299:R98I;ENSP00000436710:R98I;ENSP00000433413:R74I;ENSP00000312617:R98I	ENSP00000312617:R98I	R	+	2	0	NFYC	40991411	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.170000	0.94795	2.818000	0.97014	0.655000	0.94253	AGA		0.398	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223	Missense_Mutation
HIVEP3	59269	broad.mit.edu	37	1	42041242	42041242	+	Missense_Mutation	SNP	G	G	A	rs147472354	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:42041242G>A	ENST00000372583.1	-	5	6065	c.5180C>T	c.(5179-5181)cCg>cTg	p.P1727L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1727L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1727L|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1727L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1727					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1727L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATCCTCGCCGGCTCCCCTCT	0.557																																					p.P1727L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5180T	1						.	G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	150.0	160.0	156.0		5180,5180	5.1	1.0	1	dbSNP_134	156	12,8588	9.8+/-36.6	0,12,4288	yes	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	98,98	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	probably-damaging,probably-damaging	1727/2406,1727/2407	42041242	13,12993	2203	4300	6503	41813829	SO:0001583	missense	59269	exon5			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5180C>T	1.37:g.42041242G>A	ENSP00000361664:p.Pro1727Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41813829	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937911	0.92526	2.27E-4	0.001395	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.10288	2.9;2.89;2.89;2.9	5.12	5.12	0.69794	.	0.000000	0.52532	D	0.000072	T	0.32585	0.0834	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01508	-1.1337	10	0.72032	D	0.01	-19.9363	18.3586	0.90367	0.0:0.0:1.0:0.0	.	1727;1727	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1727	ENSP00000361665:P1727L;ENSP00000361664:P1727L;ENSP00000247584:P1727L;ENSP00000410828:P1727L	ENSP00000247584:P1727L	P	-	2	0	HIVEP3	41813829	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.968000	0.76086	2.677000	0.91161	0.561000	0.74099	CCG		0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
ST3GAL3	6487	broad.mit.edu	37	1	44386580	44386580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:44386580C>T	ENST00000361392.4	+	11	1195	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R394C|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R309C|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R409C|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R310C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R355C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R378C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R309C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R378C|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R394C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R409C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R324C	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	340					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.R409C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGAGACCGTTCGCATGGCAGC	0.577																																					p.R355C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063T	1						.						75.0	55.0	62.0					1																	44386580		2203	4300	6503	44159167	SO:0001583	missense	6487	exon11			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.1018C>T	1.37:g.44386580C>T	ENSP00000355341:p.Arg340Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44159167	NM_174964	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789016	0.70337	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.67	3.68	0.42216	.	0.246159	0.33005	N	0.005397	T	0.36413	0.0966	L	0.33792	1.035	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.997;0.997;0.998;0.998;0.999;0.998;0.997;0.998;0.997	P;P;P;P;P;P;P;D;D	0.64042	0.857;0.785;0.785;0.888;0.857;0.886;0.863;0.921;0.912	T	0.02333	-1.1175	10	0.22109	T	0.4	.	10.6959	0.45899	0.3877:0.6123:0.0:0.0	.	355;310;309;378;324;394;340;409;355	Q11203-2;Q11203-5;Q11203-7;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	340;324;409;394;378;309;355;310;409;394;378;309	ENSP00000355341:R340C;ENSP00000354748:R324C;ENSP00000262915:R409C;ENSP00000361450:R394C;ENSP00000316999:R378C;ENSP00000361449:R309C;ENSP00000317192:R355C;ENSP00000361444:R310C;ENSP00000354657:R409C;ENSP00000361443:R394C;ENSP00000361447:R378C;ENSP00000329755:R309C	ENSP00000262915:R409C	R	+	1	0	ST3GAL3	44159167	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.505000	0.73708	2.307000	0.77673	0.591000	0.81541	CGC		0.577	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	
HECTD3	79654	broad.mit.edu	37	1	45469584	45469584	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:45469584A>G	ENST00000372172.4	-	19	2443	c.2372T>C	c.(2371-2373)tTt>tCt	p.F791S	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.F401S	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	791	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F791S(1)|p.F507S(1)|p.F401S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GCCCGTGACAAAGCGCAGGAA	0.612																																					p.F791S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T2372C	1						.						43.0	51.0	48.0					1																	45469584		2065	4180	6245	45242171	SO:0001583	missense	79654	exon19			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2372T>C	1.37:g.45469584A>G	ENSP00000361245:p.Phe791Ser	Somatic		Capture	Illumina HiSeq	Phase_I	45242171	NM_024602	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.474745	0.84640	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.81163	-1.46;-1.46	5.86	5.86	0.93980	HECT (4);	0.044111	0.85682	D	0.000000	D	0.92545	0.7632	H	0.94306	3.52	0.80722	D	1	D;P	0.69078	0.997;0.679	D;B	0.81914	0.995;0.265	D	0.94444	0.7661	10	0.87932	D	0	.	16.2392	0.82399	1.0:0.0:0.0:0.0	.	791;401	Q5T447;Q5T447-2	HECD3_HUMAN;.	S	791;401	ENSP00000361245:F791S;ENSP00000361241:F401S	ENSP00000361241:F401S	F	-	2	0	HECTD3	45242171	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.936000	0.92931	2.237000	0.73441	0.445000	0.29226	TTT		0.612	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	
RAD54L	8438	broad.mit.edu	37	1	46733168	46733168	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:46733168A>G	ENST00000371975.4	+	9	1603	c.929A>G	c.(928-930)cAa>cGa	p.Q310R	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.Q310R	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	310	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q310R(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAGACTTACCAAGCCCTGGAC	0.483								Direct reversal of damage;Homologous recombination																													p.Q310R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A929G	1						.						94.0	89.0	91.0					1																	46733168		2203	4300	6503	46505755	SO:0001583	missense	8438	exon10			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.929A>G	1.37:g.46733168A>G	ENSP00000361043:p.Gln310Arg	Somatic		Capture	Illumina HiSeq	Phase_I	46505755	NM_001142548	Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896633	0.52121	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.92805	-3.11;-3.11	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.057014	0.64402	D	0.000001	D	0.88081	0.6341	L	0.35723	1.085	0.80722	D	1	B;B	0.17852	0.002;0.024	B;B	0.27076	0.008;0.076	D	0.83516	0.0083	10	0.15066	T	0.55	-15.789	15.3077	0.74004	1.0:0.0:0.0:0.0	.	130;310	G3V1N0;Q92698	.;RAD54_HUMAN	R	310;310;130	ENSP00000396113:Q310R;ENSP00000361043:Q310R	ENSP00000361043:Q310R	Q	+	2	0	RAD54L	46505755	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.044000	0.76578	2.011000	0.59026	0.459000	0.35465	CAA		0.483	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579	
DMBX1	127343	broad.mit.edu	37	1	46976184	46976184	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:46976184G>A	ENST00000360032.3	+	2	205	c.191G>A	c.(190-192)cGc>cAc	p.R64H	DMBX1_ENST00000371956.4_Missense_Mutation_p.R69H	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.R69H(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCCAGCACCGCAAACAACGT	0.542																																					p.R64H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	1						.						57.0	54.0	55.0					1																	46976184		2203	4300	6503	46748771	SO:0001583	missense	127343	exon2			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.191G>A	1.37:g.46976184G>A	ENSP00000353132:p.Arg64His	Somatic		Capture	Illumina HiSeq	Phase_I	46748771	NM_172225		Missense_Mutation	SNP	ENST00000360032.3	37	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262620	0.95399	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.95949	-3.86;-3.86	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.101382	0.64402	D	0.000001	D	0.94991	0.8379	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.995;0.997	P;P	0.62184	0.836;0.899	D	0.96186	0.9134	10	0.87932	D	0	.	17.2476	0.87032	0.0:0.0:1.0:0.0	.	69;64	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	H	69;64	ENSP00000361024:R69H;ENSP00000353132:R64H	ENSP00000353132:R64H	R	+	2	0	DMBX1	46748771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.645000	0.74343	2.403000	0.81681	0.491000	0.48974	CGC		0.542	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		
CYP4B1	1580	broad.mit.edu	37	1	47283832	47283832	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:47283832G>T	ENST00000271153.4	+	11	1335	c.1299G>T	c.(1297-1299)gaG>gaT	p.E433D	CYP4B1_ENST00000452782.2_Missense_Mutation_p.E271D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E434D|CYP4B1_ENST00000371919.4_Missense_Mutation_p.E419D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	433					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.E433D(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTTCCACTGAGAATGCATCCA	0.582																																					p.E434D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1302T	1						.						152.0	140.0	144.0					1																	47283832		2203	4300	6503	47056419	SO:0001583	missense	1580	exon11			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1299G>T	1.37:g.47283832G>T	ENSP00000271153:p.Glu433Asp	Somatic		Capture	Illumina HiSeq	Phase_I	47056419	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	8.705	0.910675	0.17833	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.80480	-1.38;-1.38;-0.55;-1.38	6.17	3.33	0.38152	.	0.046343	0.85682	N	0.000000	D	0.83760	0.5324	L	0.56280	1.765	0.44149	D	0.99694	D;B;B	0.76494	0.999;0.029;0.035	D;B;B	0.74674	0.984;0.108;0.173	T	0.80482	-0.1363	10	0.46703	T	0.11	.	5.8952	0.18935	0.2729:0.1375:0.5896:0.0	.	419;434;433	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	D	434;433;419;271	ENSP00000360991:E434D;ENSP00000271153:E433D;ENSP00000360987:E419D;ENSP00000400413:E271D	ENSP00000271153:E433D	E	+	3	2	CYP4B1	47056419	1.000000	0.71417	0.974000	0.42286	0.004000	0.04260	1.242000	0.32755	0.493000	0.27837	-0.136000	0.14681	GAG		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
ELAVL4	1996	broad.mit.edu	37	1	50666695	50666695	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:50666695C>T	ENST00000371823.4	+	7	1212	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	ELAVL4_ENST00000371819.1_Missense_Mutation_p.R321C|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R316C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R319C|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R335C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R316C|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R333C	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	330	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R333C(1)|p.R330C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AAAGGTGATTCGTGACTTCAA	0.542																																					p.R316C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C946T	1						.						129.0	115.0	120.0					1																	50666695		2203	4300	6503	50439282	SO:0001583	missense	1996	exon7			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.988C>T	1.37:g.50666695C>T	ENSP00000360888:p.Arg330Cys	Somatic		Capture	Illumina HiSeq	Phase_I	50439282	NM_001144774	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480767	0.63849	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.55213	1.73	0.80722	D	1	P;P;P;P;P;P	0.50943	0.94;0.92;0.897;0.875;0.926;0.94	P;B;B;B;P;P	0.51193	0.662;0.377;0.428;0.302;0.531;0.662	T	0.00007	-1.2495	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	321;316;330;333;316;319	B1APY9;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;ELAV4_HUMAN;.;.;.	C	319;316;333;316;330;335;321	ENSP00000399939:R319C;ENSP00000360892:R316C;ENSP00000349594:R333C;ENSP00000360889:R316C;ENSP00000360888:R330C;ENSP00000360886:R335C;ENSP00000360884:R321C	ENSP00000349594:R333C	R	+	1	0	ELAVL4	50439282	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.885000	0.99019	0.655000	0.94253	CGT		0.542	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
NRD1	4898	broad.mit.edu	37	1	52276031	52276031	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:52276031G>T	ENST00000354831.7	-	18	2218	c.2029C>A	c.(2029-2031)Ctt>Att	p.L677I	NRD1_ENST00000544028.1_Missense_Mutation_p.L477I|NRD1_ENST00000539524.1_Missense_Mutation_p.L545I|NRD1_ENST00000352171.7_Missense_Mutation_p.L609I|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	608					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L677I(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGTAAAACAAGATTTGCTTTT	0.358																																					p.L677I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2029A	1						.						85.0	80.0	81.0					1																	52276031		2203	4300	6503	52048619	SO:0001583	missense	4898	exon18			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2029C>A	1.37:g.52276031G>T	ENSP00000346890:p.Leu677Ile	Somatic		Capture	Illumina HiSeq	Phase_I	52048619	NM_002525	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.98|11.98	1.800246|1.800246	0.31869|0.31869	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	D;D;D;D|.	0.85629|.	-2.01;-2.01;-2.01;-2.01|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35335|0.35335	0.0928|0.0928	N|N	0.04787|0.04787	-0.16|-0.16	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.32939|.	0.354;0.241;0.391|.	B;B;B|.	0.28991|.	0.067;0.03;0.097|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|5	0.02654|.	T|.	1|.	-11.637|-11.637	12.2348|12.2348	0.54510|0.54510	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	609;608;677|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	I|Y	609;677;545;79;609;477|63	ENSP00000262679:L609I;ENSP00000346890:L677I;ENSP00000444416:L545I;ENSP00000442262:L477I|.	ENSP00000262679:L609I|.	L|S	-|-	1|2	0|0	NRD1|NRD1	52048619|52048619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.162000|5.162000	0.64942|0.64942	2.707000|2.707000	0.92482|0.92482	0.561000|0.561000	0.74099|0.74099	CTT|TCT		0.358	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
ZFYVE9	9372	broad.mit.edu	37	1	52703396	52703396	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:52703396A>G	ENST00000371591.1	+	3	438	c.307A>G	c.(307-309)Atg>Gtg	p.M103V	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.M103V|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.M103V	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	103					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.M103V(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATTGCCACAATGTGGATTGA	0.438																																					p.M103V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A307G	1						.						84.0	84.0	84.0					1																	52703396		2203	4300	6503	52475984	SO:0001583	missense	9372	exon4			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.307A>G	1.37:g.52703396A>G	ENSP00000360647:p.Met103Val	Somatic		Capture	Illumina HiSeq	Phase_I	52475984	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906249	0.52333	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.58506	0.79;0.33;0.86;0.86	5.77	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.27053	0.805	0.36020	D	0.838695	P;P;D	0.58268	0.917;0.865;0.982	D;P;D	0.68943	0.915;0.824;0.961	T	0.68055	-0.5510	10	0.46703	T	0.11	.	11.2186	0.48842	0.9288:0.0:0.0712:0.0	.	103;103;103	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	V	103	ENSP00000349737:M103V;ENSP00000355358:M103V;ENSP00000287727:M103V;ENSP00000360647:M103V	ENSP00000287727:M103V	M	+	1	0	ZFYVE9	52475984	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	2.114000	0.41911	2.203000	0.70933	0.533000	0.62120	ATG		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ORC1	4998	broad.mit.edu	37	1	52867826	52867826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:52867826G>A	ENST00000371568.3	-	2	288	c.70C>T	c.(70-72)Cga>Tga	p.R24*	PRPF38A_ENST00000257181.9_5'Flank|ORC1_ENST00000371566.1_Nonsense_Mutation_p.R24*	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	24					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R24*(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCAGTTTTCGATCCAACAAG	0.468																																					p.R24X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C70T	1						.						149.0	125.0	133.0					1																	52867826		2203	4300	6503	52640414	SO:0001587	stop_gained	4998	exon2				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.70C>T	1.37:g.52867826G>A	ENSP00000360623:p.Arg24*	Somatic		Capture	Illumina HiSeq	Phase_I	52640414	NM_001190818	D3DQ34|Q13471|Q5T0F5	Nonsense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	36	5.914245	0.97099	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	.	.	.	5.48	4.48	0.54585	.	0.204718	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1881	12.2299	0.54482	0.0:0.0:0.8186:0.1814	.	.	.	.	X	24	.	ENSP00000360621:R24X	R	-	1	2	ORC1	52640414	0.980000	0.34600	0.998000	0.56505	0.969000	0.65631	2.599000	0.46231	2.560000	0.86352	0.563000	0.77884	CGA		0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
ACOT11	26027	broad.mit.edu	37	1	55096492	55096492	+	Missense_Mutation	SNP	G	G	A	rs377475734		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:55096492G>A	ENST00000371316.3	+	16	1797	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	RP11-240D10.4_ENST00000416119.1_RNA	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	572	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R572H(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						tcaaagggtcgcaggagcgac	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		16720	0.0		0.001	False		,,,				2504	0.0				p.R572H	Ovarian(148;1440 1861 22015 32453 51933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1715A	1						.	G	HIS/ARG	1,4405		0,1,2202	19.0	21.0	20.0		1715		0.1	1		20	1,8595		0,1,4297	no	missense	ACOT11	NM_015547.3	29	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		572/608	55096492	2,13000	2203	4298	6501	54869080	SO:0001583	missense	26027	exon16			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1715G>A	1.37:g.55096492G>A	ENSP00000360366:p.Arg572His	Somatic		Capture	Illumina HiSeq	Phase_I	54869080	NM_015547	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	1.360	-0.589116	0.03799	2.27E-4	1.16E-4	ENSG00000162390	ENST00000371316	T	0.79033	-1.23	.	.	.	Lipid-binding START (2);	.	.	.	.	T	0.57460	0.2055	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.52793	-0.8528	5	0.87932	D	0	.	.	.	.	.	572	Q8WXI4	ACO11_HUMAN	H	572	ENSP00000360366:R572H	ENSP00000360366:R572H	R	+	2	0	ACOT11	54869080	0.096000	0.21769	0.095000	0.20976	0.095000	0.18619	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CGC		0.547	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547	
C1orf168	199920	broad.mit.edu	37	1	57206385	57206385	+	Missense_Mutation	SNP	G	G	A	rs140787553		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:57206385G>A	ENST00000343433.6	-	13	1768	c.1688C>T	c.(1687-1689)tCg>tTg	p.S563L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	563								p.S563L(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTTTTCTTTCGACTTGGTTTT	0.368																																					p.S563L												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1688T	1						.	G	LEU/SER	0,4406	2.1+/-5.4	0,0,2203	107.0	99.0	102.0		1688	1.7	0.1	1	dbSNP_134	102	3,8593	3.0+/-9.4	0,3,4295	yes	missense	C1orf168	NM_001004303.4	145	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	benign	563/729	57206385	3,12999	2203	4298	6501	56978973	SO:0001583	missense	199920	exon13			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1688C>T	1.37:g.57206385G>A	ENSP00000345972:p.Ser563Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56978973	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021785	0.02061	0.0	3.49E-4	ENSG00000187889	ENST00000343433	T	0.32272	1.46	4.66	1.67	0.24075	.	0.866965	0.09770	N	0.758063	T	0.17831	0.0428	N	0.20986	0.625	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35001	-0.9806	10	0.14656	T	0.56	0.2002	6.489	0.22105	0.3204:0.0:0.6796:0.0	.	563	Q5VWT5	CA168_HUMAN	L	563	ENSP00000345972:S563L	ENSP00000345972:S563L	S	-	2	0	C1orf168	56978973	0.997000	0.39634	0.069000	0.20011	0.940000	0.58332	1.270000	0.33086	0.249000	0.21456	0.563000	0.77884	TCG		0.368	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
C1orf168	199920	broad.mit.edu	37	1	57258400	57258400	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:57258400T>G	ENST00000343433.6	-	2	166	c.86A>C	c.(85-87)aAa>aCa	p.K29T	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	29								p.K29T(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGCTGGGAATTTAATAGGTCC	0.448																																					p.K29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A86C	1						.						158.0	162.0	161.0					1																	57258400		2203	4300	6503	57030988	SO:0001583	missense	199920	exon2			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.86A>C	1.37:g.57258400T>G	ENSP00000345972:p.Lys29Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57030988	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859232	0.51376	.	.	ENSG00000187889	ENST00000343433	T	0.39787	1.06	4.65	0.892	0.19230	.	0.554792	0.16474	N	0.212836	T	0.44644	0.1303	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.971;0.999	P;D	0.67548	0.714;0.952	T	0.25847	-1.0120	10	0.34782	T	0.22	-5.096	6.8666	0.24096	0.0:0.2756:0.0:0.7244	.	29;29	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	T	29	ENSP00000345972:K29T	ENSP00000345972:K29T	K	-	2	0	C1orf168	57030988	0.013000	0.17824	0.000000	0.03702	0.220000	0.24768	1.224000	0.32539	0.045000	0.15804	0.460000	0.39030	AAA		0.448	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
OMA1	115209	broad.mit.edu	37	1	58946721	58946721	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:58946721C>A	ENST00000371226.3	-	9	1604	c.1491G>T	c.(1489-1491)aaG>aaT	p.K497N	OMA1_ENST00000358603.2_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	497					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.K497N(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTCTGTTTCTTCGTGATAT	0.353																																					p.K497N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1491T	1						.						176.0	163.0	167.0					1																	58946721		2203	4300	6503	58719309	SO:0001583	missense	115209	exon9			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1491G>T	1.37:g.58946721C>A	ENSP00000360270:p.Lys497Asn	Somatic		Capture	Illumina HiSeq	Phase_I	58719309	NM_145243	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.380221	0.24944	.	.	ENSG00000162600	ENST00000371226	T	0.17213	2.29	3.95	2.02	0.26589	.	0.348573	0.24029	N	0.042215	T	0.06690	0.0171	N	0.08118	0	0.80722	D	1	B	0.30482	0.281	B	0.27170	0.077	T	0.31998	-0.9923	10	0.29301	T	0.29	-4.7923	5.1056	0.14783	0.0:0.7224:0.0:0.2776	.	497	Q96E52	OMA1_HUMAN	N	497	ENSP00000360270:K497N	ENSP00000360270:K497N	K	-	3	2	OMA1	58719309	0.997000	0.39634	0.977000	0.42913	0.629000	0.37895	1.488000	0.35551	0.989000	0.38761	0.460000	0.39030	AAG		0.353	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243	
FGGY	55277	broad.mit.edu	37	1	59787387	59787387	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:59787387G>A	ENST00000303721.7	+	2	340	c.166G>A	c.(166-168)Gag>Aag	p.E56K	FGGY_ENST00000371212.1_Missense_Mutation_p.E56K|FGGY_ENST00000371218.4_Missense_Mutation_p.E56K|FGGY_ENST00000474476.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	56					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.E56K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGTCCTCCGAGGACATCTG	0.532																																					p.E56K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166A	1						.						59.0	53.0	55.0					1																	59787387		1568	3582	5150	59559975	SO:0001583	missense	55277	exon2				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.166G>A	1.37:g.59787387G>A	ENSP00000305922:p.Glu56Lys	Somatic		Capture	Illumina HiSeq	Phase_I	59559975	NM_018291	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428367	0.62844	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.2	5.2	0.72013	Carbohydrate kinase, FGGY, N-terminal (1);	0.290348	0.33309	N	0.005047	T	0.43545	0.1252	L	0.48986	1.54	0.80722	D	1	B;P;B;B	0.36535	0.103;0.557;0.068;0.131	B;B;B;B	0.32465	0.064;0.146;0.019;0.104	T	0.33189	-0.9878	9	.	.	.	-24.6541	18.9316	0.92568	0.0:0.0:1.0:0.0	.	56;56;56;56	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	K	56	ENSP00000406607:E56K;ENSP00000360262:E56K;ENSP00000305922:E56K;ENSP00000360256:E56K	.	E	+	1	0	FGGY	59559975	1.000000	0.71417	0.961000	0.40146	0.957000	0.61999	3.472000	0.53114	2.691000	0.91804	0.655000	0.94253	GAG		0.532	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	
INADL	10207	broad.mit.edu	37	1	62237123	62237123	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:62237123A>G	ENST00000371158.2	+	6	659	c.545A>G	c.(544-546)aAt>aGt	p.N182S	INADL_ENST00000316485.6_Missense_Mutation_p.N182S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	182	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.N182S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTAAAGGAAAATGATCAAATA	0.308																																					p.N182S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A545G	1						.						89.0	82.0	85.0					1																	62237123		2203	4300	6503	62009711	SO:0001583	missense	10207	exon6			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.545A>G	1.37:g.62237123A>G	ENSP00000360200:p.Asn182Ser	Somatic		Capture	Illumina HiSeq	Phase_I	62009711	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	14.37	2.513697	0.44763	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.28895	1.59;1.59	4.67	4.67	0.58626	PDZ/DHR/GLGF (4);	0.162760	0.40818	N	0.001006	T	0.44117	0.1278	L	0.38175	1.15	0.80722	D	1	D;D;B	0.57571	0.98;0.973;0.324	P;D;B	0.73708	0.777;0.981;0.183	T	0.26503	-1.0101	10	0.38643	T	0.18	.	14.1115	0.65123	1.0:0.0:0.0:0.0	.	182;182;182	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	182	ENSP00000360200:N182S;ENSP00000326199:N182S	ENSP00000255202:N182S	N	+	2	0	INADL	62009711	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.485000	0.73625	1.746000	0.51805	0.377000	0.23210	AAT		0.308	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
ROR1	4919	broad.mit.edu	37	1	64643651	64643651	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:64643651G>A	ENST00000371079.1	+	9	2302	c.1927G>A	c.(1927-1929)Gct>Act	p.A643T	ROR1_ENST00000545203.1_Missense_Mutation_p.A94T	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.A643T(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AATTTACTCCGCTGATTACTA	0.453																																					p.A643T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1927A	1						.						62.0	65.0	64.0					1																	64643651		2203	4300	6503	64416239	SO:0001583	missense	4919	exon9			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1927G>A	1.37:g.64643651G>A	ENSP00000360120:p.Ala643Thr	Somatic		Capture	Illumina HiSeq	Phase_I	64416239	NM_005012	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664301	0.29604	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.82526	-1.62;-1.62	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42682	D	0.000662	T	0.57681	0.2070	N	0.11064	0.09	0.58432	D	0.99999	P	0.39576	0.679	B	0.32724	0.151	T	0.70539	-0.4844	10	0.66056	D	0.02	.	15.1877	0.73016	0.0:0.0:0.8592:0.1408	.	643	Q01973	ROR1_HUMAN	T	643;646;94	ENSP00000360120:A643T;ENSP00000441637:A94T	ENSP00000360120:A643T	A	+	1	0	ROR1	64416239	1.000000	0.71417	0.912000	0.35992	0.940000	0.58332	4.951000	0.63610	2.836000	0.97738	0.655000	0.94253	GCT		0.453	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	
CACHD1	57685	broad.mit.edu	37	1	65131775	65131775	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:65131775C>A	ENST00000371073.2	+	16	2312	c.2312C>A	c.(2311-2313)tCt>tAt	p.S771Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.S720Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	771					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.S720Y(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGTTGATTTCTTTGACTGGT	0.333																																					p.S720Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2159A	1						.						152.0	143.0	146.0					1																	65131775		2203	4300	6503	64904363	SO:0001583	missense	57685	exon16			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2312C>A	1.37:g.65131775C>A	ENSP00000360113:p.Ser771Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	64904363	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.959467	0.74016	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	5.66	5.66	0.87406	.	0.046152	0.85682	D	0.000000	T	0.13286	0.0322	L	0.27053	0.805	0.58432	D	0.999997	B	0.22480	0.07	B	0.28011	0.085	T	0.05784	-1.0864	10	0.30854	T	0.27	-21.2801	20.1156	0.97930	0.0:1.0:0.0:0.0	.	771	Q5VU97	CAHD1_HUMAN	Y	771;720	ENSP00000360113:S771Y;ENSP00000290039:S720Y	ENSP00000290039:S720Y	S	+	2	0	CACHD1	64904363	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.386000	0.79775	2.824000	0.97209	0.655000	0.94253	TCT		0.333	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
JAK1	3716	broad.mit.edu	37	1	65332714	65332714	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:65332714T>G	ENST00000342505.4	-	7	1073	c.825A>C	c.(823-825)gaA>gaC	p.E275D		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	275	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.E275D(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTGTCAAAGTTTCCAAGGTAG	0.383			Mis		ALL																																p.E275D			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A825C	1						.						210.0	193.0	198.0					1																	65332714		1887	4125	6012	65105302	SO:0001583	missense	3716	exon7			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.825A>C	1.37:g.65332714T>G	ENSP00000343204:p.Glu275Asp	Somatic		Capture	Illumina HiSeq	Phase_I	65105302	NM_002227	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310739	0.81358	.	.	ENSG00000162434	ENST00000342505	T	0.58358	0.34	5.59	-7.66	0.01277	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.64000	0.2559	M	0.77486	2.375	0.39908	D	0.973997	D	0.69078	0.997	D	0.72625	0.978	T	0.76645	-0.2883	9	0.56958	D	0.05	-7.1582	23.6472	0.99985	0.0:0.8682:0.0:0.1318	.	275	P23458	JAK1_HUMAN	D	275	ENSP00000343204:E275D	ENSP00000343204:E275D	E	-	3	2	JAK1	65105302	0.949000	0.32298	0.272000	0.24630	0.863000	0.49368	0.099000	0.15210	-1.397000	0.02068	-0.899000	0.02877	GAA		0.383	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
LEPR	3953	broad.mit.edu	37	1	66101961	66101961	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:66101961G>T	ENST00000349533.6	+	20	2946	c.2761G>T	c.(2761-2763)Gat>Tat	p.D921Y	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.D921Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATTTCAGAAGATATCAGTGT	0.373																																					p.D921Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2761T	1						.						149.0	153.0	152.0					1																	66101961		2203	4300	6503	65874549	SO:0001583	missense	3953	exon20			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2761G>T	1.37:g.66101961G>T	ENSP00000330393:p.Asp921Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	65874549	NM_002303	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289272	0.80914	.	.	ENSG00000116678	ENST00000349533	T	0.57907	0.37	5.79	5.79	0.91817	.	0.259962	0.42420	D	0.000718	T	0.69575	0.3126	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.71467	-0.4584	10	0.72032	D	0.01	-17.0787	20.0281	0.97530	0.0:0.0:1.0:0.0	.	921	P48357	LEPR_HUMAN	Y	921	ENSP00000330393:D921Y	ENSP00000330393:D921Y	D	+	1	0	LEPR	65874549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.681000	0.74523	2.727000	0.93392	0.655000	0.94253	GAT		0.373	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
TCTEX1D1	200132	broad.mit.edu	37	1	67220432	67220432	+	Nonsense_Mutation	SNP	C	C	T	rs200537226		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:67220432C>T	ENST00000282670.2	+	2	219	c.91C>T	c.(91-93)Cga>Tga	p.R31*	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	31								p.R31*(1)		large_intestine(2)|lung(10)|skin(1)	13						TGAATTTTGGCGAAAGGAAAT	0.338																																					p.R31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C91T	1						.	C	stop/ARG	0,4406		0,0,2203	71.0	71.0	71.0		91	-3.6	0.0	1		71	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TCTEX1D1	NM_152665.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		31/180	67220432	1,13005	2203	4300	6503	66993020	SO:0001587	stop_gained	200132	exon2			AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.91C>T	1.37:g.67220432C>T	ENSP00000282670:p.Arg31*	Somatic		Capture	Illumina HiSeq	Phase_I	66993020	NM_152665	Q06YR9|Q5VYE1	Nonsense_Mutation	SNP	ENST00000282670.2	37	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044559	0.55110	0.0	1.16E-4	ENSG00000152760	ENST00000282670	.	.	.	4.4	-3.6	0.04570	.	1.306980	0.05133	N	0.492844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-25.7114	3.2401	0.06778	0.5103:0.206:0.1949:0.0888	.	.	.	.	X	31	.	ENSP00000282670:R31X	R	+	1	2	TCTEX1D1	66993020	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.288000	0.08377	-0.409000	0.07553	-0.274000	0.10170	CGA		0.338	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665	
WDR78	79819	broad.mit.edu	37	1	67306238	67306238	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:67306238C>T	ENST00000371026.3	-	9	1463	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	WDR78_ENST00000371023.3_Missense_Mutation_p.A470T|WDR78_ENST00000431318.1_Missense_Mutation_p.A216T	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	470					hematopoietic progenitor cell differentiation (GO:0002244)			p.A470T(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCCAAGTTGGCGGGTATTGTT	0.408																																					p.A470T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1408A	1						.						210.0	208.0	209.0					1																	67306238		2203	4300	6503	67078826	SO:0001583	missense	79819	exon9			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1408G>A	1.37:g.67306238C>T	ENSP00000360065:p.Ala470Thr	Somatic		Capture	Illumina HiSeq	Phase_I	67078826	NM_207014	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	5.614	0.298065	0.10622	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	T;T;T;T;T	0.67698	0.41;-0.28;-0.28;2.17;1.58	5.92	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);	0.051419	0.85682	D	0.000000	T	0.35364	0.0929	N	0.14661	0.345	0.27712	N	0.945433	B;B;B	0.31413	0.184;0.322;0.322	B;B;B	0.34385	0.181;0.139;0.139	T	0.41592	-0.9500	10	0.72032	D	0.01	-17.7865	14.0481	0.64716	0.0:0.4937:0.5063:0.0	.	216;470;470	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	T	470;216;236;470;92	ENSP00000360065:A470T;ENSP00000393182:A216T;ENSP00000433682:A236T;ENSP00000360062:A470T;ENSP00000433037:A92T	ENSP00000360062:A470T	A	-	1	0	WDR78	67078826	0.997000	0.39634	1.000000	0.80357	0.008000	0.06430	1.861000	0.39438	1.497000	0.48584	-0.156000	0.13503	GCC		0.408	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
RPE65	6121	broad.mit.edu	37	1	68904692	68904692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:68904692G>A	ENST00000262340.5	-	9	984	c.931C>T	c.(931-933)Ctc>Ttc	p.L311F		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	311					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.L311F(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TGATGGAAGAGGTTGAAAGGA	0.383																																					p.L311F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C931T	1						.						257.0	253.0	254.0					1																	68904692		2203	4300	6503	68677280	SO:0001583	missense	6121	exon9			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.931C>T	1.37:g.68904692G>A	ENSP00000262340:p.Leu311Phe	Somatic		Capture	Illumina HiSeq	Phase_I	68677280	NM_000329	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702478	0.30232	.	.	ENSG00000116745	ENST00000262340	D	0.94931	-3.56	4.88	3.96	0.45880	.	0.181655	0.49305	D	0.000157	D	0.85754	0.5770	L	0.39397	1.21	0.39438	D	0.9672	P	0.40332	0.713	P	0.44359	0.447	T	0.82520	-0.0416	10	0.11794	T	0.64	-0.0251	8.1086	0.30900	0.0801:0.0:0.7634:0.1565	.	311	Q16518	RPE65_HUMAN	F	311	ENSP00000262340:L311F	ENSP00000262340:L311F	L	-	1	0	RPE65	68677280	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	2.414000	0.44627	1.053000	0.40415	0.655000	0.94253	CTC		0.383	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
LRRC7	57554	broad.mit.edu	37	1	70504723	70504723	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:70504723C>A	ENST00000035383.5	+	19	3132	c.3102C>A	c.(3100-3102)ttC>ttA	p.F1034L	LRRC7_ENST00000310961.5_Missense_Mutation_p.F1039L|LRRC7_ENST00000415775.2_Missense_Mutation_p.F318L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1034						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F1034L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCAAAGCTTCAATCCTCAAG	0.453																																					p.F1034L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3102A	1						.						51.0	55.0	53.0					1																	70504723		2203	4300	6503	70277311	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3102C>A	1.37:g.70504723C>A	ENSP00000035383:p.Phe1034Leu	Somatic		Capture	Illumina HiSeq	Phase_I	70277311	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742486	0.49151	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.33;2.42	5.63	5.63	0.86233	.	0.057338	0.64402	D	0.000001	T	0.20618	0.0496	L	0.50333	1.59	0.53688	D	0.999971	P;P;P	0.49358	0.923;0.89;0.824	P;B;B	0.48454	0.578;0.389;0.182	T	0.11251	-1.0595	10	0.02654	T	1	.	12.0436	0.53466	0.0:0.9215:0.0:0.0785	.	318;1034;1034	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	L	1039;1034;318;857	ENSP00000309245:F1039L;ENSP00000035383:F1034L;ENSP00000394867:F318L	ENSP00000035383:F1034L	F	+	3	2	LRRC7	70277311	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	5.550000	0.67268	2.653000	0.90120	0.563000	0.77884	TTC		0.453	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70505187	70505187	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:70505187T>G	ENST00000035383.5	+	19	3596	c.3566T>G	c.(3565-3567)tTt>tGt	p.F1189C	LRRC7_ENST00000310961.5_Missense_Mutation_p.F1194C|LRRC7_ENST00000415775.2_Missense_Mutation_p.F473C	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1189						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.F1189C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCGGGAAGTTTTCCGGTTAAA	0.493																																					p.F1189C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3566G	1						.						59.0	58.0	58.0					1																	70505187		2203	4300	6503	70277775	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3566T>G	1.37:g.70505187T>G	ENSP00000035383:p.Phe1189Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70277775	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	8.692	0.907616	0.17833	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37584	1.19;1.27;2.36	5.94	5.94	0.96194	.	0.113054	0.64402	D	0.000006	T	0.35740	0.0942	L	0.44542	1.39	0.41380	D	0.987545	D;D;D	0.76494	0.999;0.969;0.993	P;P;P	0.62740	0.906;0.614;0.72	T	0.19160	-1.0314	10	0.38643	T	0.18	.	10.7752	0.46346	0.1414:0.0:0.0:0.8586	.	473;1189;1189	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	C	1194;1189;473;1012	ENSP00000309245:F1194C;ENSP00000035383:F1189C;ENSP00000394867:F473C	ENSP00000035383:F1189C	F	+	2	0	LRRC7	70277775	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	4.465000	0.60141	2.275000	0.75901	0.528000	0.53228	TTT		0.493	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70505361	70505361	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:70505361A>G	ENST00000035383.5	+	19	3770	c.3740A>G	c.(3739-3741)aAc>aGc	p.N1247S	LRRC7_ENST00000310961.5_Missense_Mutation_p.N1252S|LRRC7_ENST00000415775.2_Missense_Mutation_p.N531S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1247						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.N1247S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCATCAGATAACAGTGATTTA	0.453																																					p.N1247S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3740G	1						.						92.0	89.0	90.0					1																	70505361		2203	4300	6503	70277949	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3740A>G	1.37:g.70505361A>G	ENSP00000035383:p.Asn1247Ser	Somatic		Capture	Illumina HiSeq	Phase_I	70277949	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	9.700	1.154128	0.21371	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39592	1.07;1.1;2.22	6.16	5.04	0.67666	.	0.046997	0.85682	D	0.000000	T	0.26521	0.0648	N	0.14661	0.345	0.35135	D	0.768306	D;B;B	0.62365	0.991;0.002;0.0	P;B;B	0.61070	0.883;0.005;0.002	T	0.22312	-1.0220	10	0.35671	T	0.21	.	10.1589	0.42840	0.8632:0.0:0.1368:0.0	.	531;1247;1247	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1252;1247;531;1070	ENSP00000309245:N1252S;ENSP00000035383:N1247S;ENSP00000394867:N531S	ENSP00000035383:N1247S	N	+	2	0	LRRC7	70277949	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	3.626000	0.54245	1.159000	0.42565	-0.256000	0.11100	AAC		0.453	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC40	55631	broad.mit.edu	37	1	70625065	70625065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:70625065C>A	ENST00000370952.3	-	10	1247	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	390						membrane (GO:0016020)		p.E390*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ACTCTGGATTCACTTGGTAGT	0.313																																					p.E390X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1168T	1						.						97.0	92.0	94.0					1																	70625065		2203	4300	6503	70397653	SO:0001587	stop_gained	55631	exon10				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1168G>T	1.37:g.70625065C>A	ENSP00000359990:p.Glu390*	Somatic		Capture	Illumina HiSeq	Phase_I	70397653	NM_017768	Q9BTR7|Q9NSK1|Q9NXC1	Nonsense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564032	0.96527	.	.	ENSG00000066557	ENST00000370952	.	.	.	5.63	4.67	0.58626	.	0.100368	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	16.0112	0.80404	0.0:0.8033:0.1967:0.0	.	.	.	.	X	390	.	ENSP00000359990:E390X	E	-	1	0	LRRC40	70397653	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.590000	0.36654	2.644000	0.89710	0.655000	0.94253	GAA		0.313	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
PTGER3	5733	broad.mit.edu	37	1	71478116	71478116	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:71478116T>C	ENST00000306666.5	-	2	1159	c.949A>G	c.(949-951)Aca>Gca	p.T317A	PTGER3_ENST00000370924.4_Missense_Mutation_p.T317A|PTGER3_ENST00000370931.3_Missense_Mutation_p.T317A|PTGER3_ENST00000460330.1_Missense_Mutation_p.T317A|PTGER3_ENST00000351052.5_Missense_Mutation_p.T317A|PTGER3_ENST00000356595.4_Missense_Mutation_p.T317A|PTGER3_ENST00000370932.2_Missense_Mutation_p.T317A|PTGER3_ENST00000414819.1_Missense_Mutation_p.T317A|PTGER3_ENST00000354608.5_Missense_Mutation_p.T317A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	317					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.T317A(3)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCCGTGTGTGTCTTGCAGTGC	0.393																																					p.T317A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A949G	1						.						120.0	112.0	114.0					1																	71478116		2203	4300	6503	71250704	SO:0001583	missense	5733	exon2			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.949A>G	1.37:g.71478116T>C	ENSP00000302313:p.Thr317Ala	Somatic		Capture	Illumina HiSeq	Phase_I	71250704	NM_198715	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	CCDS657.1	.	.	.	.	.	.	.	.	.	.	T	5.599	0.295336	0.10622	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.65	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.840557	0.10908	N	0.620846	T	0.04634	0.0126	N	0.02315	-0.6	0.18873	N	0.999986	B;B;B;B;B;B;B;B	0.22800	0.024;0.002;0.035;0.042;0.075;0.005;0.005;0.001	B;B;B;B;B;B;B;B	0.23419	0.032;0.003;0.027;0.032;0.046;0.002;0.003;0.012	T	0.43360	-0.9396	10	0.12766	T	0.61	-0.9202	7.9697	0.30119	0.1358:0.0:0.1422:0.722	.	317;317;317;317;317;317;317;317	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	A	317	ENSP00000359969:T317A;ENSP00000359970:T317A;ENSP00000280208:T317A;ENSP00000418073:T317A;ENSP00000346624:T317A;ENSP00000349003:T317A;ENSP00000401423:T317A;ENSP00000302313:T317A;ENSP00000359962:T317A	ENSP00000302313:T317A	T	-	1	0	PTGER3	71250704	0.000000	0.05858	0.683000	0.30040	0.354000	0.29330	0.048000	0.14078	0.962000	0.38057	0.402000	0.26972	ACA		0.393	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
ERICH3	127254	broad.mit.edu	37	1	75038172	75038172	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:75038172G>A	ENST00000326665.5	-	14	3440	c.3222C>T	c.(3220-3222)gaC>gaT	p.D1074D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1074	Glu-rich.							p.D1074D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTCTCAGAGTCAGTTTTCC	0.413																																					p.D1074D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3222T	1						.						169.0	177.0	174.0					1																	75038172		2203	4300	6503	74810760	SO:0001819	synonymous_variant	127254	exon14																														ENST00000326665.5:c.3222C>T	1.37:g.75038172G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74810760	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																				0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75038765	75038765	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:75038765C>T	ENST00000326665.5	-	14	2847	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		877	Glu-rich.							p.E877K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTGCTTTTCAGGAGCCTCA	0.522																																					p.E877K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2629A	1						.						215.0	214.0	214.0					1																	75038765		2203	4300	6503	74811353	SO:0001583	missense	127254	exon14																														ENST00000326665.5:c.2629G>A	1.37:g.75038765C>T	ENSP00000322609:p.Glu877Lys	Somatic		Capture	Illumina HiSeq	Phase_I	74811353	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.901044	0.33535	.	.	ENSG00000178965	ENST00000326665	T	0.14893	2.47	5.21	1.23	0.21249	.	.	.	.	.	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.48375	-0.9041	9	0.14656	T	0.56	-4.8802	5.8642	0.18765	0.0:0.6184:0.1397:0.2419	.	877	Q5RHP9	CA173_HUMAN	K	877	ENSP00000322609:E877K	ENSP00000322609:E877K	E	-	1	0	C1orf173	74811353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.187000	0.09656	-0.020000	0.14032	-0.251000	0.11542	GAA		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75065504	75065504	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:75065504T>G	ENST00000326665.5	-	11	1819	c.1601A>C	c.(1600-1602)aAa>aCa	p.K534T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K337T	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		534	Glu-rich.							p.K534T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTATCTTTTTTATCATCCAA	0.403																																					p.K534T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1601C	1						.						229.0	226.0	227.0					1																	75065504		2203	4300	6503	74838092	SO:0001583	missense	127254	exon11																														ENST00000326665.5:c.1601A>C	1.37:g.75065504T>G	ENSP00000322609:p.Lys534Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74838092	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	5.797	0.331451	0.10956	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19105	2.65;2.17	6.05	4.93	0.64822	.	.	.	.	.	T	0.05777	0.0151	N	0.22421	0.69	0.28831	N	0.897167	B;B	0.33477	0.157;0.413	B;B	0.29077	0.069;0.098	T	0.21518	-1.0243	9	0.45353	T	0.12	-12.7592	11.8167	0.52216	0.0:0.0686:0.0:0.9314	.	337;534	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	T	534;337	ENSP00000322609:K534T;ENSP00000398581:K337T	ENSP00000322609:K534T	K	-	2	0	C1orf173	74838092	1.000000	0.71417	0.956000	0.39512	0.000000	0.00434	5.505000	0.66981	1.119000	0.41883	-0.256000	0.11100	AAA		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
IFI44	10561	broad.mit.edu	37	1	79120767	79120767	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:79120767G>A	ENST00000370747.4	+	4	648	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	188					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.R188Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CAACAAATACGAATTCTGCTG	0.463																																					p.R188Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563A	1						.						110.0	104.0	106.0					1																	79120767		2203	4300	6503	78893355	SO:0001583	missense	10561	exon4			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.563G>A	1.37:g.79120767G>A	ENSP00000359783:p.Arg188Gln	Somatic		Capture	Illumina HiSeq	Phase_I	78893355	NM_006417	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515782	0.27123	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.36878	1.23;1.23	3.85	1.98	0.26296	.	0.197274	0.34362	N	0.004025	T	0.23806	0.0576	L	0.56396	1.775	0.80722	D	1	D;D	0.63046	0.992;0.985	P;B	0.48227	0.571;0.417	T	0.03534	-1.1027	10	0.56958	D	0.05	.	7.6537	0.28363	0.2051:0.0:0.7949:0.0	.	188;188	B7ZB11;Q8TCB0	.;IFI44_HUMAN	Q	188;64	ENSP00000359783:R188Q;ENSP00000399477:R64Q	ENSP00000359783:R188Q	R	+	2	0	IFI44	78893355	0.648000	0.27313	0.255000	0.24374	0.212000	0.24457	1.993000	0.40747	0.596000	0.29794	0.563000	0.77884	CGA		0.463	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417	
ELTD1	64123	broad.mit.edu	37	1	79383322	79383322	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:79383322A>G	ENST00000370742.3	-	12	1809	c.1746T>C	c.(1744-1746)atT>atC	p.I582I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	582					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I582I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACATACAAGAATGATTAGGC	0.279																																					p.I582I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1746C	1						.						40.0	38.0	39.0					1																	79383322		1787	4057	5844	79155910	SO:0001819	synonymous_variant	64123	exon12			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1746T>C	1.37:g.79383322A>G		Somatic		Capture	Illumina HiSeq	Phase_I	79155910	NM_022159	B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	CCDS41352.1																																																																																				0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
ELTD1	64123	broad.mit.edu	37	1	79383652	79383652	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:79383652G>T	ENST00000370742.3	-	11	1608	c.1545C>A	c.(1543-1545)ctC>ctA	p.L515L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	515					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L515L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAATGAGATAGAGATGTATGC	0.398																																					p.L515L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1545A	1						.						144.0	135.0	138.0					1																	79383652		1876	4110	5986	79156240	SO:0001819	synonymous_variant	64123	exon11			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1545C>A	1.37:g.79383652G>T		Somatic		Capture	Illumina HiSeq	Phase_I	79156240	NM_022159	B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	CCDS41352.1																																																																																				0.398	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LPHN2	23266	broad.mit.edu	37	1	82447508	82447508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:82447508G>A	ENST00000370728.1	+	21	3763	c.3118G>A	c.(3118-3120)Gct>Act	p.A1040T	LPHN2_ENST00000319517.6_Missense_Mutation_p.A1027T|LPHN2_ENST00000370717.2_Missense_Mutation_p.A1055T|LPHN2_ENST00000370715.1_Missense_Mutation_p.A1027T|LPHN2_ENST00000394879.1_Missense_Mutation_p.A1042T|LPHN2_ENST00000370721.1_Missense_Mutation_p.A965T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.A1055T|LPHN2_ENST00000271029.4_Missense_Mutation_p.A1055T|LPHN2_ENST00000370713.1_Missense_Mutation_p.A1027T|LPHN2_ENST00000359929.3_Missense_Mutation_p.A1027T|LPHN2_ENST00000370727.1_Missense_Mutation_p.A1055T|LPHN2_ENST00000370723.1_Missense_Mutation_p.A1042T|LPHN2_ENST00000335786.5_Missense_Mutation_p.A1040T|LPHN2_ENST00000370730.1_Missense_Mutation_p.A1040T			O95490	LPHN2_HUMAN	latrophilin 2	1040					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A1027S(1)|p.A1055S(1)|p.A1027T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTGCTTGGCGCTTTCGCTCT	0.383																																					p.A1027T												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G3079A	1						.						257.0	262.0	260.0					1																	82447508		2203	4300	6503	82220096	SO:0001583	missense	23266	exon17			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3118G>A	1.37:g.82447508G>A	ENSP00000359763:p.Ala1040Thr	Somatic		Capture	Illumina HiSeq	Phase_I	82220096	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.371961|4.371961	0.82573|0.82573	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.37411|.	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2|.	5.67|5.67	5.67|5.67	0.87782|0.87782	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68668|0.68668	0.3026|0.3026	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	D;P;P;D|.	0.62365|.	0.985;0.848;0.663;0.991|.	P;B;B;P|.	0.59487|.	0.858;0.402;0.105;0.778|.	T|T	0.65109|0.65109	-0.6248|-0.6248	10|5	0.87932|.	D|.	0|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1027;1027;1027|.	O95490;O95490-3;O95490-4;O95490-2|.	LPHN2_HUMAN;.;.;.|.	T|H	965;1040;1040;1055;1055;1042;1027;1027;1027;1027;1055;1042;1055;1040|45	ENSP00000359756:A965T;ENSP00000359763:A1040T;ENSP00000359765:A1040T;ENSP00000359762:A1055T;ENSP00000359760:A1055T;ENSP00000359758:A1042T;ENSP00000353006:A1027T;ENSP00000359750:A1027T;ENSP00000359748:A1027T;ENSP00000322270:A1027T;ENSP00000359752:A1055T;ENSP00000378344:A1042T;ENSP00000271029:A1055T;ENSP00000337306:A1040T|.	ENSP00000271029:A1055T|.	A|R	+|+	1|2	0|0	LPHN2|LPHN2	82220096|82220096	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
TTLL7	79739	broad.mit.edu	37	1	84376944	84376944	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:84376944C>T	ENST00000260505.8	-	15	2067	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	564					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.E564K(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTTCATTTTCGTCAGATTCT	0.363																																					p.E564K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1690A	1						.						172.0	169.0	170.0					1																	84376944		2203	4300	6503	84149532	SO:0001583	missense	79739	exon15			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1690G>A	1.37:g.84376944C>T	ENSP00000260505:p.Glu564Lys	Somatic		Capture	Illumina HiSeq	Phase_I	84149532	NM_024686	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652322	0.14580	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03889	3.77	4.96	4.04	0.47022	.	1.521120	0.03817	N	0.266820	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	0.999997	B	0.16166	0.016	B	0.08055	0.003	T	0.43491	-0.9388	10	0.36615	T	0.2	.	11.8328	0.52305	0.0:0.9185:0.0:0.0815	.	564	Q6ZT98	TTLL7_HUMAN	K	564;341;564	ENSP00000260505:E564K	ENSP00000260505:E564K	E	-	1	0	TTLL7	84149532	0.773000	0.28580	0.003000	0.11579	0.001000	0.01503	3.640000	0.54350	1.222000	0.43521	-0.339000	0.08088	GAA		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686	
ZNHIT6	54680	broad.mit.edu	37	1	86123626	86123626	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:86123626G>T	ENST00000370574.3	-	9	1409	c.1276C>A	c.(1276-1278)Ctc>Atc	p.L426I	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.L387I			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	426					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L426I(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTGTCTAGGAGACTTTTATAA	0.274																																					p.L387I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1159A	1						.						70.0	72.0	71.0					1																	86123626		2200	4293	6493	85896214	SO:0001583	missense	54680	exon10			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1276C>A	1.37:g.86123626G>T	ENSP00000359606:p.Leu426Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85896214	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011443	0.75046	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.62639	0.14;0.01	5.66	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.82716	2.605	0.47123	D	0.999323	D;D	0.89917	1.0;0.999	D;D	0.80764	0.978;0.994	T	0.76846	-0.2808	10	0.42905	T	0.14	-4.0096	14.2625	0.66094	0.0:0.0:0.8507:0.1493	.	387;426	B4DP13;Q9NWK9	.;BCD1_HUMAN	I	387;426	ENSP00000414344:L387I;ENSP00000359606:L426I	ENSP00000359606:L426I	L	-	1	0	ZNHIT6	85896214	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.239000	0.58694	1.508000	0.48769	0.650000	0.86243	CTC		0.274	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
ZNHIT6	54680	broad.mit.edu	37	1	86171989	86171989	+	Nonsense_Mutation	SNP	G	G	A	rs374783757		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:86171989G>A	ENST00000370574.3	-	3	905	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ZNHIT6_ENST00000431532.2_Nonsense_Mutation_p.R219*			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	258					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R258*(3)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTTTATCTCGAACTCCATTA	0.368																																					p.R219X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C655T	1						.	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	114.0	118.0		655,772	3.5	1.0	1		118	0,8600		0,0,4300	no	stop-gained,stop-gained	ZNHIT6	NM_001170670.1,NM_017953.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	219/432,258/471	86171989	1,13005	2203	4300	6503	85944577	SO:0001587	stop_gained	54680	exon4			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.772C>T	1.37:g.86171989G>A	ENSP00000359606:p.Arg258*	Somatic		Capture	Illumina HiSeq	Phase_I	85944577	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Nonsense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	38	6.752255	0.97813	2.27E-4	0.0	ENSG00000117174	ENST00000431532;ENST00000370574	.	.	.	5.43	3.49	0.39957	.	0.212842	0.37348	N	0.002123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1369	10.4817	0.44698	0.0:0.1126:0.569:0.3183	.	.	.	.	X	219;258	.	ENSP00000359606:R258X	R	-	1	2	ZNHIT6	85944577	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.807000	0.47955	0.729000	0.32403	0.650000	0.86243	CGA		0.368	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
COL24A1	255631	broad.mit.edu	37	1	86591291	86591291	+	Missense_Mutation	SNP	C	C	T	rs200728036		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:86591291C>T	ENST00000370571.2	-	3	1094	c.728G>A	c.(727-729)cGc>cAc	p.R243H	COL24A1_ENST00000436319.1_Missense_Mutation_p.R243H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	243					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R243H(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTCTGCTTGGCGACACTGCTG	0.408																																					p.R243H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	1						.						77.0	76.0	76.0					1																	86591291		2007	4177	6184	86363879	SO:0001583	missense	255631	exon3			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.728G>A	1.37:g.86591291C>T	ENSP00000359603:p.Arg243His	Somatic		Capture	Illumina HiSeq	Phase_I	86363879	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	4.517	0.095952	0.08681	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17370	2.28;2.28	5.69	-6.66	0.01789	Concanavalin A-like lectin/glucanase (1);	0.742942	0.11102	N	0.599537	T	0.03011	0.0089	L	0.46157	1.445	0.18873	N	0.999989	B;B	0.25007	0.116;0.004	B;B	0.17098	0.017;0.002	T	0.28681	-1.0036	10	0.49607	T	0.09	.	1.9009	0.03267	0.4755:0.1764:0.0936:0.2546	.	243;243	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	243	ENSP00000359603:R243H;ENSP00000392531:R243H	ENSP00000359603:R243H	R	-	2	0	COL24A1	86363879	0.001000	0.12720	0.006000	0.13384	0.359000	0.29487	-0.379000	0.07437	-1.898000	0.01100	-0.309000	0.09137	CGC		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
ODF2L	57489	broad.mit.edu	37	1	86852674	86852674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:86852674C>A	ENST00000359242.3	-	2	318	c.37G>T	c.(37-39)Gaa>Taa	p.E13*	ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E13*|ODF2L_ENST00000478286.2_Nonsense_Mutation_p.E13*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E13*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E13*|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E13*|ODF2L_ENST00000486215.1_Nonsense_Mutation_p.E13*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	13						centrosome (GO:0005813)		p.E13*(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAAAAGAGTTCTTCTGAATGA	0.398																																					p.E13X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G37T	1						.						110.0	116.0	114.0					1																	86852674		2203	4299	6502	86625262	SO:0001587	stop_gained	57489	exon2				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.37G>T	1.37:g.86852674C>A	ENSP00000359600:p.Glu13*	Somatic		Capture	Illumina HiSeq	Phase_I	86625262	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Nonsense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974777	0.92919	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959;ENST00000478286;ENST00000486215	.	.	.	4.69	3.77	0.43336	.	0.418218	0.20390	N	0.093266	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-4.8939	8.871	0.35316	0.0:0.8942:0.0:0.1058	.	.	.	.	X	13	.	ENSP00000294678:E13X	E	-	1	0	ODF2L	86625262	0.975000	0.34042	0.540000	0.28089	0.644000	0.38419	1.419000	0.34793	1.090000	0.41315	0.557000	0.71058	GAA		0.398	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
CLCA2	9635	broad.mit.edu	37	1	86904649	86904649	+	Missense_Mutation	SNP	G	G	A	rs55906076	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:86904649G>A	ENST00000370565.4	+	7	1225	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	355	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.D355N(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCCAGTTTCGACAGCAAAGG	0.438																																					p.D355N	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1063A	1						.						128.0	113.0	118.0					1																	86904649		2203	4300	6503	86677237	SO:0001583	missense	9635	exon7				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1063G>A	1.37:g.86904649G>A	ENSP00000359596:p.Asp355Asn	Somatic		Capture	Illumina HiSeq	Phase_I	86677237	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	4.938	0.174189	0.09391	.	.	ENSG00000137975	ENST00000370565	T	0.67171	-0.25	5.92	-2.97	0.05530	von Willebrand factor, type A (3);	0.659654	0.15853	N	0.241412	T	0.16854	0.0405	N	0.17872	0.535	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	10	0.13853	T	0.58	-0.648	3.2905	0.06947	0.3835:0.1146:0.3902:0.1117	.	355	Q9UQC9	CLCA2_HUMAN	N	355	ENSP00000359596:D355N	ENSP00000359596:D355N	D	+	1	0	CLCA2	86677237	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.152000	0.16302	-0.807000	0.04393	-0.302000	0.09304	GAC		0.438	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:87043668C>T	ENST00000370563.3	+	12	2077	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	679					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.R679W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTAAAAGTTCGGGCTCATGG	0.438																																					p.R679W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2035T	1						.						49.0	47.0	48.0					1																	87043668		1854	4103	5957	86816256	SO:0001583	missense	22802	exon12			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2035C>T	1.37:g.87043668C>T	ENSP00000359594:p.Arg679Trp	Somatic		Capture	Illumina HiSeq	Phase_I	86816256	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	2.537	-0.307229	0.05458	.	.	ENSG00000016602	ENST00000370563	T	0.03152	4.03	5.25	-0.241	0.13043	.	0.220619	0.35838	N	0.002951	T	0.01353	0.0044	L	0.50993	1.605	0.37679	D	0.923404	B;B	0.15141	0.005;0.012	B;B	0.12837	0.008;0.008	T	0.44205	-0.9343	10	0.30078	T	0.28	-5.6208	8.5605	0.33507	0.3616:0.5059:0.0:0.1325	.	231;679	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	W	679	ENSP00000359594:R679W	ENSP00000359594:R679W	R	+	1	2	CLCA4	86816256	0.000000	0.05858	0.265000	0.24526	0.008000	0.06430	-0.958000	0.03857	-0.057000	0.13199	-0.808000	0.03180	CGG		0.438	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
GBP1	2633	broad.mit.edu	37	1	89520497	89520497	+	Missense_Mutation	SNP	T	T	G	rs377677294		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:89520497T>G	ENST00000370473.4	-	10	1752	c.1533A>C	c.(1531-1533)agA>agC	p.R511S	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	511					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.R511S(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCTCATTCTTTCTTTGCATTT	0.448																																					p.R511S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1533C	1						.						392.0	401.0	398.0					1																	89520497		2203	4300	6503	89293085	SO:0001583	missense	2633	exon10			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1533A>C	1.37:g.89520497T>G	ENSP00000359504:p.Arg511Ser	Somatic		Capture	Illumina HiSeq	Phase_I	89293085	NM_002053	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843144	0.16963	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.01981	4.52	4.67	-2.75	0.05914	Guanylate-binding protein, C-terminal (3);	1.289840	0.04894	N	0.450063	T	0.00936	0.0031	L	0.43923	1.385	0.09310	N	1	B	0.31503	0.326	B	0.30646	0.118	T	0.44112	-0.9349	10	0.39692	T	0.17	.	11.0856	0.48084	0.0:0.6276:0.0:0.3724	.	511	P32455	GBP1_HUMAN	S	511;474	ENSP00000359504:R511S	ENSP00000359504:R511S	R	-	3	2	GBP1	89293085	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-2.587000	0.00902	-0.396000	0.07703	0.402000	0.26972	AGA		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
GBP1	2633	broad.mit.edu	37	1	89528849	89528849	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:89528849C>T	ENST00000370473.4	-	2	288	c.69G>A	c.(67-69)gcG>gcA	p.A23A		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	23	GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.A23A(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTTCTGGATTCGCCATCAGTC	0.512																																					p.A23A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G69A	1						.						137.0	125.0	129.0					1																	89528849		2203	4300	6503	89301437	SO:0001819	synonymous_variant	2633	exon2			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.69G>A	1.37:g.89528849C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89301437	NM_002053	D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	CCDS718.1																																																																																				0.512	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
ZNF644	84146	broad.mit.edu	37	1	91403840	91403840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:91403840C>T	ENST00000370440.1	-	3	3288	c.3071G>A	c.(3070-3072)cGa>cAa	p.R1024Q	ZNF644_ENST00000337393.5_Missense_Mutation_p.R1024Q|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1024					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.R1024L(1)|p.R1024Q(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTAACTCGTTTAACAGG	0.363																																					p.R1024Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3071A	1						.						173.0	167.0	169.0					1																	91403840		2202	4299	6501	91176428	SO:0001583	missense	84146	exon3			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3071G>A	1.37:g.91403840C>T	ENSP00000359469:p.Arg1024Gln	Somatic		Capture	Illumina HiSeq	Phase_I	91176428	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601749	0.66445	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00623	6.15;6.15	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.01061	0.0035	L	0.48642	1.525	0.80722	D	1	D	0.62365	0.991	P	0.55965	0.788	T	0.76377	-0.2981	10	0.66056	D	0.02	-6.477	18.525	0.90968	0.0:1.0:0.0:0.0	.	1024	Q9H582	ZN644_HUMAN	Q	1024;1024;596	ENSP00000359469:R1024Q;ENSP00000337008:R1024Q	ENSP00000337008:R1024Q	R	-	2	0	ZNF644	91176428	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.703000	0.68340	2.389000	0.81357	0.591000	0.81541	CGA		0.363	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
HFM1	164045	broad.mit.edu	37	1	91816403	91816403	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:91816403A>C	ENST00000370425.3	-	18	2196	c.2098T>G	c.(2098-2100)Tta>Gta	p.L700V	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_De_novo_Start_OutOfFrame|HFM1_ENST00000370424.3_Missense_Mutation_p.L379V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	700	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L700V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGCATTTAAATGTTCAATA	0.318																																					p.L700V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2098G	1						.						122.0	114.0	116.0					1																	91816403		1838	4091	5929	91588991	SO:0001583	missense	164045	exon18			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2098T>G	1.37:g.91816403A>C	ENSP00000359454:p.Leu700Val	Somatic		Capture	Illumina HiSeq	Phase_I	91588991	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275393	0.59649	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	T;T	0.44083	0.93;0.93	5.32	4.16	0.48862	Helicase, C-terminal (1);	0.000000	0.37136	U	0.002232	T	0.49490	0.1560	M	0.76002	2.32	0.80722	D	1	D;P	0.60575	0.988;0.874	D;P	0.68192	0.956;0.621	T	0.56007	-0.8050	10	0.87932	D	0	.	8.875	0.35340	0.8525:0.0:0.1475:0.0	.	379;700	A6NGI5;A2PYH4	.;HFM1_HUMAN	V	700;379;384	ENSP00000359454:L700V;ENSP00000359453:L379V	ENSP00000359450:L384V	L	-	1	2	HFM1	91588991	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.657000	0.46724	0.913000	0.36797	0.377000	0.23210	TTA		0.318	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
HFM1	164045	broad.mit.edu	37	1	91851212	91851212	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:91851212G>A	ENST00000370425.3	-	5	772	c.674C>T	c.(673-675)gCt>gTt	p.A225V	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	225					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A225V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCAGAAAAAGCATTATTTGC	0.333																																					p.A225V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C674T	1						.						88.0	84.0	85.0					1																	91851212		2203	4300	6503	91623800	SO:0001583	missense	164045	exon5			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.674C>T	1.37:g.91851212G>A	ENSP00000359454:p.Ala225Val	Somatic		Capture	Illumina HiSeq	Phase_I	91623800	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293001	0.23564	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.59638	0.25;1.17	5.93	-0.484	0.12071	.	8.862150	0.01733	U	0.028979	T	0.20455	0.0492	L	0.43152	1.355	0.09310	N	1	B;B	0.19706	0.038;0.022	B;B	0.13407	0.009;0.004	T	0.02411	-1.1163	10	0.22706	T	0.39	.	0.224	0.00172	0.2614:0.2397:0.2533:0.2457	.	225;225	B7ZM16;A2PYH4	.;HFM1_HUMAN	V	225;258;84;183	ENSP00000359454:A225V;ENSP00000388900:A183V	ENSP00000359454:A225V	A	-	2	0	HFM1	91623800	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.135000	0.10420	-0.103000	0.12175	0.655000	0.94253	GCT		0.333	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
CDC7	8317	broad.mit.edu	37	1	91989800	91989800	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:91989800T>G	ENST00000428239.1	+	12	1792	c.1533T>G	c.(1531-1533)aaT>aaG	p.N511K	CDC7_ENST00000430031.2_Missense_Mutation_p.N483K|CDC7_ENST00000234626.6_Missense_Mutation_p.N511K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N511K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		actcagggaattcatttaaaa	0.403																																					p.N511K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1533G	1						.						138.0	143.0	141.0					1																	91989800		2203	4300	6503	91762388	SO:0001583	missense	8317	exon12			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1533T>G	1.37:g.91989800T>G	ENSP00000393139:p.Asn511Lys	Somatic		Capture	Illumina HiSeq	Phase_I	91762388	NM_003503	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	7.764	0.705996	0.15172	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.44881	0.91;1.08;1.08	5.94	-3.72	0.04411	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.578400	0.02953	N	0.142041	T	0.10981	0.0268	L	0.35542	1.07	0.09310	N	1	B;B;B	0.15719	0.014;0.008;0.014	B;B;B	0.17433	0.012;0.018;0.013	T	0.12708	-1.0537	10	0.15952	T	0.53	-22.2686	7.0303	0.24962	0.1518:0.3557:0.0:0.4925	.	483;511;511	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	K	483;511;511	ENSP00000407477:N483K;ENSP00000234626:N511K;ENSP00000393139:N511K	ENSP00000234626:N511K	N	+	3	2	CDC7	91762388	0.000000	0.05858	0.001000	0.08648	0.275000	0.26752	-0.345000	0.07770	-0.075000	0.12798	0.528000	0.53228	AAT		0.403	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503	
TGFBR3	7049	broad.mit.edu	37	1	92161280	92161280	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:92161280C>G	ENST00000525962.1	-	15	2447	c.2386G>C	c.(2386-2388)Gtg>Ctg	p.V796L	TGFBR3_ENST00000212355.4_Missense_Mutation_p.V796L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.V795L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	796					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.V796L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCTCCGATCACAAAGGCTGCA	0.478																																					p.V795L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2383C	1						.						157.0	137.0	144.0					1																	92161280		2203	4300	6503	91933868	SO:0001583	missense	7049	exon16			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2386G>C	1.37:g.92161280C>G	ENSP00000436127:p.Val796Leu	Somatic		Capture	Illumina HiSeq	Phase_I	91933868	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328431	0.81690	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.5	5.5	0.81552	.	0.060353	0.64402	D	0.000003	T	0.32496	0.0831	L	0.39633	1.23	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.976;0.994	P;P;P	0.62740	0.906;0.741;0.863	T	0.04229	-1.0967	10	0.15952	T	0.53	-17.759	12.7032	0.57045	0.0:0.9248:0.0:0.0752	.	796;795;796	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	L	796;795;796;795	ENSP00000212355:V796L;ENSP00000359426:V795L;ENSP00000436127:V796L;ENSP00000432638:V795L	ENSP00000212355:V796L	V	-	1	0	TGFBR3	91933868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.444000	0.66587	2.585000	0.87301	0.563000	0.77884	GTG		0.478	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
EVI5	7813	broad.mit.edu	37	1	92979463	92979463	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:92979463A>G	ENST00000370331.1	-	18	2192	c.2183T>C	c.(2182-2184)gTc>gCc	p.V728A	EVI5_ENST00000543509.1_Missense_Mutation_p.V739A|EVI5_ENST00000540033.1_Missense_Mutation_p.V728A	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	728	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.V728A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TAAATGGTTGACAATGTGGAT	0.403																																					p.V728A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2183C	1						.						53.0	53.0	53.0					1																	92979463		2203	4300	6503	92752051	SO:0001583	missense	7813	exon18			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2183T>C	1.37:g.92979463A>G	ENSP00000359356:p.Val728Ala	Somatic		Capture	Illumina HiSeq	Phase_I	92752051	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363730	0.41902	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05319	3.46;3.46;3.46	6.06	6.06	0.98353	.	0.083622	0.52532	D	0.000066	T	0.01976	0.0062	L	0.28274	0.84	0.43054	D	0.994665	B;B	0.10296	0.003;0.002	B;B	0.15870	0.014;0.006	T	0.40534	-0.9558	10	0.09338	T	0.73	-4.4079	15.1837	0.72982	1.0:0.0:0.0:0.0	.	739;728	F5H4R0;O60447	.;EVI5_HUMAN	A	728;728;739	ENSP00000359356:V728A;ENSP00000440826:V728A;ENSP00000445019:V739A	ENSP00000359356:V728A	V	-	2	0	EVI5	92752051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.322000	0.78497	0.528000	0.53228	GTC		0.403	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
CCDC18	343099	broad.mit.edu	37	1	93649649	93649649	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:93649649C>T	ENST00000343253.7	+	3	751	c.249C>T	c.(247-249)aaC>aaT	p.N83N	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Silent_p.N201N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Silent_p.N83N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	83								p.N201N(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CTTATGAAAACGTCTGTAAAA	0.343																																					p.N201N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	1						.						83.0	76.0	78.0					1																	93649649		1809	4074	5883	93422237	SO:0001819	synonymous_variant	343099	exon3					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.249C>T	1.37:g.93649649C>T		Somatic		Capture	Illumina HiSeq	Phase_I	93422237	NM_206886	Q6ZU17	Silent	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.311|0.311	-0.967924|-0.967924	0.02232|0.02232	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000370276	.|.	.|.	.|.	5.75|5.75	0.318|0.318	0.15867|0.15867	.|.	.|.	.|.	.|.	.|.	T|T	0.07503|0.07503	0.0189|0.0189	.|.	.|.	.|.	0.21020|0.21020	N|N	0.999805|0.999805	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34527|0.34527	-0.9825|-0.9825	4|4	.|.	.|.	.|.	.|.	1.1988|1.1988	0.01880|0.01880	0.4137:0.2705:0.0938:0.222|0.4137:0.2705:0.0938:0.222	.|.	.|.	.|.	.|.	C|M	130|137	.|.	.|.	R|T	+|+	1|2	0|0	CCDC18|CCDC18	93422237|93422237	0.924000|0.924000	0.31332|0.31332	0.343000|0.343000	0.25615|0.25615	0.272000|0.272000	0.26649|0.26649	1.413000|1.413000	0.34725|0.34725	0.097000|0.097000	0.17492|0.17492	-0.467000|-0.467000	0.05162|0.05162	CGT|ACG		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
CCDC18	343099	broad.mit.edu	37	1	93680314	93680314	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:93680314G>T	ENST00000343253.7	+	12	2009	c.1507G>T	c.(1507-1509)Gat>Tat	p.D503Y	CCDC18_ENST00000338949.4_Missense_Mutation_p.D303Y|CCDC18_ENST00000557479.1_Missense_Mutation_p.D622Y|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.D504Y			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	503								p.D622Y(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGCGTAAAAGATCAAAATCA	0.299																																					p.D622Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1864T	1						.						58.0	55.0	56.0					1																	93680314		1811	4078	5889	93452902	SO:0001583	missense	343099	exon12					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1507G>T	1.37:g.93680314G>T	ENSP00000343377:p.Asp503Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	93452902	NM_206886	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.60|11.60	1.686939|1.686939	0.29962|0.29962	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|T	0.37411|0.33216	1.2;1.2;1.2;1.2;1.2|1.42	5.16|5.16	-2.2|-2.2	0.06994|0.06994	.|.	0.759161|.	0.12828|.	N|.	0.435891|.	T|T	0.08714|0.08714	0.0216|0.0216	L|L	0.28274|0.28274	0.84|0.84	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.08055|.	0.0;0.003|.	T|T	0.36529|0.36529	-0.9744|-0.9744	10|7	0.28530|0.52906	T|T	0.3|0.07	.|.	5.0923|5.0923	0.14715|0.14715	0.5002:0.0:0.2381:0.2617|0.5002:0.0:0.2381:0.2617	.|.	503;622|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	Y|N	503;504;622;303;223|556	ENSP00000343377:D503Y;ENSP00000383808:D504Y;ENSP00000451099:D622Y;ENSP00000344380:D303Y;ENSP00000391151:D223Y|ENSP00000359299:K556N	ENSP00000344380:D303Y|ENSP00000359299:K556N	D|K	+|+	1|3	0|2	CCDC18|CCDC18	93452902|93452902	0.035000|0.035000	0.19736|0.19736	0.008000|0.008000	0.14137|0.14137	0.846000|0.846000	0.48090|0.48090	0.600000|0.600000	0.24104|0.24104	-0.074000|-0.074000	0.12820|0.12820	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.299	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
ABCA4	24	broad.mit.edu	37	1	94528147	94528147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:94528147G>T	ENST00000370225.3	-	13	2009	c.1923C>A	c.(1921-1923)tgC>tgA	p.C641*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.C641*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	641					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.C641*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGTCCACGAAGCAGGGGTAGG	0.602																																					p.C641X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1923A	1						.						71.0	67.0	69.0					1																	94528147		2203	4300	6503	94300735	SO:0001587	stop_gained	24	exon13			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1923C>A	1.37:g.94528147G>T	ENSP00000359245:p.Cys641*	Somatic		Capture	Illumina HiSeq	Phase_I	94300735	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	39	7.497096	0.98319	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	4.95	2.06	0.26882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8321	0.18586	0.2369:0.0:0.6262:0.1369	.	.	.	.	X	641	.	ENSP00000359245:C641X	C	-	3	2	ABCA4	94300735	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	0.519000	0.22862	0.281000	0.22233	0.561000	0.74099	TGC		0.602	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ARHGAP29	9411	broad.mit.edu	37	1	94639932	94639932	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:94639932C>T	ENST00000260526.6	-	23	3461	c.3279G>A	c.(3277-3279)aaG>aaA	p.K1093K	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1093					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.K1093K(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCATTGTAGTCTTGGCAGTTA	0.438																																					p.K1093K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3279A	1						.						241.0	225.0	230.0					1																	94639932		2203	4300	6503	94412520	SO:0001819	synonymous_variant	9411	exon23				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3279G>A	1.37:g.94639932C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94412520	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	CCDS748.1																																																																																				0.438	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
LPPR4	9890	broad.mit.edu	37	1	99753563	99753563	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:99753563G>A	ENST00000370185.3	+	2	762	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E89K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		89					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.E89K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTATTTCCTCGAACTCACAGA	0.428																																					p.E89K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	1						.						185.0	161.0	169.0					1																	99753563		2203	4300	6503	99526151	SO:0001583	missense	9890	exon2																														ENST00000370185.3:c.265G>A	1.37:g.99753563G>A	ENSP00000359204:p.Glu89Lys	Somatic		Capture	Illumina HiSeq	Phase_I	99526151	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507527	0.96386	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.47869	0.83;0.83	5.79	5.79	0.91817	.	0.152306	0.64402	D	0.000019	T	0.66674	0.2813	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.66497	0.944;0.764	T	0.69712	-0.5071	10	0.72032	D	0.01	-19.0131	20.0243	0.97517	0.0:0.0:1.0:0.0	.	89;89	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	89	ENSP00000359204:E89K;ENSP00000394913:E89K	ENSP00000263178:E89K	E	+	1	0	RP4-788L13.1	99526151	1.000000	0.71417	0.986000	0.45419	0.856000	0.48823	9.848000	0.99507	2.727000	0.93392	0.557000	0.71058	GAA		0.428	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
OR2T2	401992	broad.mit.edu	37	1	248616544	248616544	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr1:248616544C>T	ENST00000342927.3	+	1	468	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S149F(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGTCGGCTCCTGGGTTGGT	0.522																																					p.S149F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446T	1						.						30.0	37.0	34.0					1																	248616544		2201	4278	6479	246683167	SO:0001583	missense	401992	exon1			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.446C>T	1.37:g.248616544C>T	ENSP00000343062:p.Ser149Phe	Somatic		Capture	Illumina HiSeq	Phase_I	246683167	NM_001004136	B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	9.296	1.051884	0.19827	.	.	ENSG00000196240	ENST00000342927	T	0.39056	1.1	3.72	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000220	T	0.68081	0.2962	H	0.95224	3.64	0.09310	N	1	D	0.67145	0.996	D	0.65573	0.936	T	0.61476	-0.7055	10	0.87932	D	0	.	7.0808	0.25229	0.0:0.722:0.1746:0.1034	.	149	Q6IF00	OR2T2_HUMAN	F	149	ENSP00000343062:S149F	ENSP00000343062:S149F	S	+	2	0	OR2T2	246683167	0.000000	0.05858	0.600000	0.28864	0.121000	0.20230	0.976000	0.29462	0.753000	0.32945	0.449000	0.29647	TCC		0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136	
TMEM74B	55321	broad.mit.edu	37	20	1164423	1164423	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:1164423T>G	ENST00000381894.3	-	1	694	c.23A>C	c.(22-24)gAg>gCg	p.E8A	TMEM74B_ENST00000481747.1_Intron	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	8						integral component of membrane (GO:0016021)		p.E8A(1)									ACCTGCAAACTCATACCCCTG	0.473																																					p.E8A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A23C	20						.						147.0	131.0	136.0					20																	1164423		2203	4300	6503	1112423	SO:0001583	missense	55321	exon1			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.23A>C	20.37:g.1164423T>G	ENSP00000371318:p.Glu8Ala	Somatic		Capture	Illumina HiSeq	Phase_I	1112423	NM_018354	D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	T	2.657	-0.280561	0.05642	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.48522	0.86;0.81	4.08	-2.88	0.05682	.	4.497280	0.01118	N	0.005734	T	0.17408	0.0418	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15521	-1.0434	10	0.08599	T	0.76	.	3.0683	0.06221	0.319:0.2735:0.0:0.4075	.	8	Q9NUR3	CT046_HUMAN	A	8	ENSP00000371318:E8A;ENSP00000400552:E8A	ENSP00000371318:E8A	E	-	2	0	C20orf46	1112423	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.344000	0.07780	-0.539000	0.06273	-0.366000	0.07423	GAG		0.473	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354	
SPTLC3	55304	broad.mit.edu	37	20	13029742	13029742	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:13029742A>C	ENST00000399002.2	+	2	541	c.267A>C	c.(265-267)gaA>gaC	p.E89D	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E89D|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	89					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.E89D(1)|p.E62D(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGGGAATAGAAAAATGCAACG	0.423																																					p.E89D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A267C	20						.						113.0	113.0	113.0					20																	13029742		2203	4300	6503	12977742	SO:0001583	missense	55304	exon2			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.267A>C	20.37:g.13029742A>C	ENSP00000381968:p.Glu89Asp	Somatic		Capture	Illumina HiSeq	Phase_I	12977742	NM_018327	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924966	0.73213	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.42	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.74647	2.275	0.54753	D	0.999987	B;D	0.89917	0.117;1.0	B;D	0.76575	0.082;0.988	T	0.78193	-0.2299	10	0.25751	T	0.34	-30.2642	11.0363	0.47802	0.9212:0.0:0.0788:0.0	.	89;89	Q9NUV7;Q9NUV7-2	SPTC3_HUMAN;.	D	89;89;89;62	ENSP00000389749:E89D;ENSP00000381968:E89D;ENSP00000367436:E89D;ENSP00000409125:E62D	ENSP00000367436:E89D	E	+	3	2	SPTLC3	12977742	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.653000	0.54446	2.177000	0.69029	0.533000	0.62120	GAA		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
ISM1	140862	broad.mit.edu	37	20	13279726	13279726	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:13279726G>A	ENST00000262487.4	+	6	1021	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	339	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)		p.D339N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CGACATCTTCGACCGCATCAA	0.592																																					p.D339N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1015A	20						.						48.0	53.0	51.0					20																	13279726		2121	4232	6353	13227726	SO:0001583	missense	140862	exon6			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1015G>A	20.37:g.13279726G>A	ENSP00000262487:p.Asp339Asn	Somatic		Capture	Illumina HiSeq	Phase_I	13227726	NM_080826	Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998296	0.93227	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.62639	0.01;0.05	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79235	-0.1887	10	0.87932	D	0	-22.7517	20.2133	0.98290	0.0:0.0:1.0:0.0	.	339	B1AKI9	ISM1_HUMAN	N	339;293	ENSP00000262487:D339N;ENSP00000409938:D293N	ENSP00000262487:D339N	D	+	1	0	ISM1	13227726	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	9.822000	0.99363	2.786000	0.95864	0.655000	0.94253	GAC		0.592	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
NSFL1C	55968	broad.mit.edu	37	20	1426360	1426360	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:1426360G>A	ENST00000216879.4	-	8	1768	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	NSFL1C_ENST00000353088.2_Missense_Mutation_p.R270W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R303W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R190W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R303W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	301	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R301W(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGCAAGCCGAATTTGGATG	0.517																																					p.R301W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C901T	20						.						184.0	180.0	181.0					20																	1426360		2203	4300	6503	1374360	SO:0001583	missense	55968	exon8			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.901C>T	20.37:g.1426360G>A	ENSP00000216879:p.Arg301Trp	Somatic		Capture	Illumina HiSeq	Phase_I	1374360	NM_016143	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002492	0.74932	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.53	2.38	0.29361	UBX (3);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.995	D;P;P	0.97110	1.0;0.456;0.73	T	0.80054	-0.1543	10	0.87932	D	0	-6.9407	13.6082	0.62061	0.0:0.0:0.7211:0.2789	.	270;190;301	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	270;303;301;190;303	ENSP00000338643:R270W;ENSP00000418529:R303W;ENSP00000216879:R301W;ENSP00000371074:R190W;ENSP00000202584:R303W	ENSP00000216879:R301W	R	-	1	2	NSFL1C	1374360	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.803000	0.47924	1.241000	0.43820	0.561000	0.74099	CGG		0.517	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	
TASP1	55617	broad.mit.edu	37	20	13605845	13605845	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:13605845C>T	ENST00000337743.4	-	3	320	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	TASP1_ENST00000539805.1_Missense_Mutation_p.R67Q|TASP1_ENST00000544472.1_Missense_Mutation_p.R67Q|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	67					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.R67Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTGACAAGCTCGTTTGCATAC	0.318																																					p.R67Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	20						.						158.0	130.0	139.0					20																	13605845		2203	4300	6503	13553845	SO:0001583	missense	55617	exon3			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.200G>A	20.37:g.13605845C>T	ENSP00000338624:p.Arg67Gln	Somatic		Capture	Illumina HiSeq	Phase_I	13553845	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.971244|4.971244	0.92919|0.92919	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000434275|ENST00000539805;ENST00000378157;ENST00000337743;ENST00000455532;ENST00000544472	.|D;D	.|0.92249	.|-2.17;-3.0	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.051145	.|0.85682	.|D	.|0.000000	D|D	0.93164|0.93164	0.7823|0.7823	L|L	0.31578|0.31578	0.945|0.945	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.69078	.|0.997;0.675;0.911	.|D;B;P	.|0.69479	.|0.964;0.151;0.608	D|D	0.91415|0.91415	0.5154|0.5154	5|10	.|0.26408	.|T	.|0.33	-7.6511|-7.6511	19.5522|19.5522	0.95324|0.95324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|67;67;67	.|B7Z963;Q9H6P5;Q5JWM4	.|.;TASP1_HUMAN;.	K|Q	45|67	.|ENSP00000338624:R67Q;ENSP00000400580:R67Q	.|ENSP00000338624:R67Q	E|R	-|-	1|2	0|0	TASP1|TASP1	13553845|13553845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.620000|6.620000	0.74224|0.74224	2.639000|2.639000	0.89480|0.89480	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.318	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
SEL1L2	80343	broad.mit.edu	37	20	13850835	13850835	+	Silent	SNP	G	G	A	rs185157057		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:13850835G>A	ENST00000284951.5	-	13	1193	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	SEL1L2_ENST00000378072.5_Silent_p.G373G|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	373						integral component of membrane (GO:0016021)		p.G373G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCCCATGAAGGCCGATTGCAT	0.323																																					p.G373G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119T	20						.						72.0	73.0	73.0					20																	13850835		1802	4075	5877	13798835	SO:0001819	synonymous_variant	80343	exon13			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1119C>T	20.37:g.13850835G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13798835	NM_025229	B4DXX5	Silent	SNP	ENST00000284951.5	37																																																																																					0.323	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
SEL1L2	80343	broad.mit.edu	37	20	13866964	13866964	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:13866964A>C	ENST00000284951.5	-	9	944	c.870T>G	c.(868-870)ttT>ttG	p.F290L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F290L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	290						integral component of membrane (GO:0016021)		p.F290L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCTGCCAAAAATTTATAGT	0.353																																					p.F290L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T870G	20						.						131.0	122.0	125.0					20																	13866964		1827	4080	5907	13814964	SO:0001583	missense	80343	exon9			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.870T>G	20.37:g.13866964A>C	ENSP00000284951:p.Phe290Leu	Somatic		Capture	Illumina HiSeq	Phase_I	13814964	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	A	12.45	1.940322	0.34283	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.48522	0.81;0.81	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.090158	0.49916	N	0.000140	T	0.28995	0.0720	N	0.16307	0.4	0.38666	D	0.952189	B;B	0.11235	0.004;0.001	B;B	0.12837	0.008;0.002	T	0.17137	-1.0379	10	0.07030	T	0.85	-9.2433	12.5063	0.55984	1.0:0.0:0.0:0.0	.	290;290	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	290	ENSP00000367312:F290L;ENSP00000284951:F290L	ENSP00000284951:F290L	F	-	3	2	SEL1L2	13814964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.005000	0.40864	2.205000	0.71048	0.454000	0.30748	TTT		0.353	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
MACROD2	140733	broad.mit.edu	37	20	15866410	15866410	+	Splice_Site	SNP	C	C	T	rs374819973	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:15866410C>T	ENST00000310348.4	+	10	729	c.729C>T	c.(727-729)gaC>gaT	p.D243D	MACROD2_ENST00000217246.4_Splice_Site_p.D243D|MACROD2_ENST00000378058.3_Splice_Site_p.D8D|MACROD2_ENST00000402914.1_Splice_Site_p.D8D			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	243					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.D243D(2)|p.D8D(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTTTAACAGACGATAATAATG	0.289													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15253	0.0		0.0	False		,,,				2504	0.0				p.D8D												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C24T	20						.	C	,	2,4392	4.2+/-10.8	0,2,2195	71.0	85.0	80.0		24,729	4.2	1.0	20		80	0,8578		0,0,4289	no	coding-synonymous-near-splice,coding-synonymous-near-splice	MACROD2	NM_001033087.1,NM_080676.5	,	0,2,6484	TT,TC,CC		0.0,0.0455,0.0154	,	8/214,243/426	15866410	2,12970	2197	4289	6486	15814410	SO:0001630	splice_region_variant	140733	exon6			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.728-1C>T	20.37:g.15866410C>T		Somatic		Capture	Illumina HiSeq	Phase_I	15814410	NM_001033087	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	CCDS13120.2																																																																																				0.289	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Silent
KIF16B	55614	broad.mit.edu	37	20	16293037	16293037	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:16293037C>A	ENST00000354981.2	-	25	3895	c.3738G>T	c.(3736-3738)aaG>aaT	p.K1246N	KIF16B_ENST00000378003.2_Missense_Mutation_p.K431N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K1216N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1246	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.K1246N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CAAATAGTTTCTTTGGAGGAA	0.338																																					p.K1246N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3738T	20						.						95.0	92.0	93.0					20																	16293037		2203	4300	6503	16241037	SO:0001583	missense	55614	exon25			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3738G>T	20.37:g.16293037C>A	ENSP00000347076:p.Lys1246Asn	Somatic		Capture	Illumina HiSeq	Phase_I	16241037	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930046	0.92389	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003	T;T;T	0.53206	0.93;0.93;0.63	5.62	5.62	0.85841	Phox homologous domain (5);	.	.	.	.	T	0.78496	0.4292	M	0.93638	3.44	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.83233	-0.0062	9	0.72032	D	0.01	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	1205;1246	Q96L93-6;Q96L93	.;KI16B_HUMAN	N	1246;1216;1090;431	ENSP00000347076:K1246N;ENSP00000347995:K1216N;ENSP00000367242:K431N	ENSP00000347076:K1246N	K	-	3	2	KIF16B	16241037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.752000	0.55172	2.809000	0.96659	0.655000	0.94253	AAG		0.338	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
KIF16B	55614	broad.mit.edu	37	20	16360036	16360036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:16360036C>A	ENST00000354981.2	-	19	2768	c.2611G>T	c.(2611-2613)Gaa>Taa	p.E871*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E871*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E97*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E871*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	871	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E871*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AATCTAGATTCTTTGTCATGT	0.408																																					p.E871X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2611T	20						.						147.0	145.0	145.0					20																	16360036		2203	4300	6503	16308036	SO:0001587	stop_gained	55614	exon19			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2611G>T	20.37:g.16360036C>A	ENSP00000347076:p.Glu871*	Somatic		Capture	Illumina HiSeq	Phase_I	16308036	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	51	17.731392	0.99892	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	.	.	.	5.38	1.04	0.20106	.	1.031410	0.07596	N	0.922907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	7.0937	0.25297	0.0:0.3782:0.4009:0.2209	.	.	.	.	X	871;871;715;97;871	.	ENSP00000347076:E871X	E	-	1	0	KIF16B	16308036	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.195000	0.32186	0.252000	0.21531	0.650000	0.86243	GAA		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
PDYN	5173	broad.mit.edu	37	20	1961534	1961534	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:1961534G>T	ENST00000217305.2	-	4	425	c.200C>A	c.(199-201)tCt>tAt	p.S67Y	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.S67Y|PDYN_ENST00000540134.1_Missense_Mutation_p.S67Y	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	67					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.S67Y(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTGAAAAAAGACAGAAAGCT	0.572																																					p.S67Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200A	20						.						53.0	52.0	52.0					20																	1961534		2203	4300	6503	1909534	SO:0001583	missense	5173	exon3				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.200C>A	20.37:g.1961534G>T	ENSP00000217305:p.Ser67Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	1909534	NM_001190892	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009441	0.54361	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.81908	-1.55;-1.55;-1.55	4.8	4.8	0.61643	.	0.815042	0.10775	N	0.635592	D	0.83959	0.5367	N	0.22421	0.69	0.09310	N	1	D	0.60575	0.988	P	0.58454	0.839	T	0.76462	-0.2950	10	0.59425	D	0.04	-1.3533	15.3919	0.74751	0.0:0.0:1.0:0.0	.	67	P01213	PDYN_HUMAN	Y	67	ENSP00000440185:S67Y;ENSP00000442259:S67Y;ENSP00000217305:S67Y	ENSP00000217305:S67Y	S	-	2	0	PDYN	1909534	0.417000	0.25432	0.005000	0.12908	0.733000	0.41908	2.466000	0.45084	2.501000	0.84356	0.561000	0.74099	TCT		0.572	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
KIF16B	55614	broad.mit.edu	37	20	16360560	16360560	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:16360560C>A	ENST00000354981.2	-	19	2244	c.2087G>T	c.(2086-2088)aGa>aTa	p.R696I	KIF16B_ENST00000408042.1_Missense_Mutation_p.R696I|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R696I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	696	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R696I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCTTCTTGTCTCTTCTTCTG	0.438																																					p.R696I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2087T	20						.						153.0	133.0	140.0					20																	16360560		2203	4300	6503	16308560	SO:0001583	missense	55614	exon19			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2087G>T	20.37:g.16360560C>A	ENSP00000347076:p.Arg696Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16308560	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.325634|1.325634	0.24080|0.24080	.|.	.|.	ENSG00000089177|ENSG00000089177	ENST00000450176|ENST00000354981;ENST00000355755;ENST00000408042	.|T;T;T	.|0.17854	.|2.25;2.25;2.25	5.39|5.39	-2.56|-2.56	0.06268|0.06268	.|.	.|0.701264	.|0.14588	.|N	.|0.310450	T|T	0.14056|0.14056	0.0340|0.0340	L|L	0.36672|0.36672	1.1|1.1	0.21967|0.21967	N|N	0.999447|0.999447	.|P;P;P;B	.|0.42337	.|0.489;0.776;0.489;0.357	.|B;B;B;B	.|0.41135	.|0.241;0.348;0.241;0.122	T|T	0.17289|0.17289	-1.0374|-1.0374	5|10	.|0.72032	.|D	.|0.01	.|.	12.4845|12.4845	0.55863|0.55863	0.0:0.2051:0.0:0.7949|0.0:0.2051:0.0:0.7949	.|.	.|696;696;696;696	.|Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.|.;.;.;KI16B_HUMAN	Y|I	131|696	.|ENSP00000347076:R696I;ENSP00000347995:R696I;ENSP00000384164:R696I	.|ENSP00000347076:R696I	D|R	-|-	1|2	0|0	KIF16B|KIF16B	16308560|16308560	0.143000|0.143000	0.22626|0.22626	0.008000|0.008000	0.14137|0.14137	0.022000|0.022000	0.10575|0.10575	0.817000|0.817000	0.27281|0.27281	-0.342000|-0.342000	0.08363|0.08363	-0.768000|-0.768000	0.03414|0.03414	GAC|AGA		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
SLC24A3	57419	broad.mit.edu	37	20	19634741	19634741	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:19634741T>G	ENST00000328041.6	+	7	845	c.648T>G	c.(646-648)gaT>gaG	p.D216E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	216					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D216E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCTGAGGGATTCTATTTACT	0.507																																					p.D216E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T648G	20						.						264.0	186.0	212.0					20																	19634741		2203	4300	6503	19582741	SO:0001583	missense	57419	exon7			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.648T>G	20.37:g.19634741T>G	ENSP00000333519:p.Asp216Glu	Somatic		Capture	Illumina HiSeq	Phase_I	19582741	NM_020689	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168126	0.78339	.	.	ENSG00000185052	ENST00000328041	T	0.63580	-0.05	5.77	-2.63	0.06133	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.87682	2.9	0.50632	D	0.999888	D	0.76494	0.999	D	0.87578	0.998	T	0.75411	-0.3327	9	.	.	.	.	11.0641	0.47966	0.0:0.5337:0.0:0.4663	.	216	Q9HC58	NCKX3_HUMAN	E	216	ENSP00000333519:D216E	.	D	+	3	2	SLC24A3	19582741	0.904000	0.30761	0.848000	0.33437	0.856000	0.48823	-0.438000	0.06905	-0.771000	0.04608	0.523000	0.50628	GAT		0.507	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
CRNKL1	51340	broad.mit.edu	37	20	20020343	20020343	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:20020343G>A	ENST00000377340.2	-	12	1969	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	CRNKL1_ENST00000521379.1_5'Flank|CRNKL1_ENST00000536226.1_Silent_p.F485F|CRNKL1_ENST00000377327.4_Silent_p.F634F	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	646					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F646F(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTAATTCAGCGAATTTAATCC	0.423																																					p.F646F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1938T	20						.						118.0	115.0	116.0					20																	20020343		2203	4300	6503	19968343	SO:0001819	synonymous_variant	51340	exon12			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1938C>T	20.37:g.20020343G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19968343	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	CCDS33446.1																																																																																				0.423	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
STK35	140901	broad.mit.edu	37	20	2097855	2097855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:2097855C>T	ENST00000381482.3	+	3	1707	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	STK35_ENST00000246032.3_Missense_Mutation_p.A346V|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A479V(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GTTGGTGAGGCGCTGCTAGAA	0.478																																					p.A479V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1436T	20						.						73.0	70.0	71.0					20																	2097855		2203	4300	6503	2045855	SO:0001583	missense	140901	exon3			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1436C>T	20.37:g.2097855C>T	ENSP00000370891:p.Ala479Val	Somatic		Capture	Illumina HiSeq	Phase_I	2045855	NM_080836	B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617624	0.87359	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	T;T	0.65916	-0.18;-0.18	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.33189	0.99	0.80722	D	1	D	0.56287	0.975	P	0.61800	0.894	T	0.67639	-0.5619	10	0.48119	T	0.1	-12.946	16.94	0.86215	0.0:1.0:0.0:0.0	.	479	Q8TDR2	STK35_HUMAN	V	479;346	ENSP00000370891:A479V;ENSP00000246032:A346V	ENSP00000246032:A346V	A	+	2	0	STK35	2045855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	GCG		0.478	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836	
CFAP61	26074	broad.mit.edu	37	20	20055878	20055878	+	Silent	SNP	C	C	T	rs372098405		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:20055878C>T	ENST00000245957.5	+	5	493	c.417C>T	c.(415-417)atC>atT	p.I139I	C20orf26_ENST00000451767.2_Silent_p.I139I|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.I139I|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		139								p.I139I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TATTTCTCATCGTGCCATCCT	0.512																																					p.I139I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417T	20						.	C	,	1,4405	2.1+/-5.4	0,1,2202	173.0	147.0	156.0		417,417	-2.7	0.9	20		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	139/471,139/1238	20055878	2,13004	2203	4300	6503	20003878	SO:0001819	synonymous_variant	26074	exon5																														ENST00000245957.5:c.417C>T	20.37:g.20055878C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20003878	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	CCDS33447.1																																																																																				0.512	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
RALGAPA2	57186	broad.mit.edu	37	20	20569981	20569981	+	Silent	SNP	C	C	T	rs374795341		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:20569981C>T	ENST00000202677.7	-	18	2377	c.2370G>A	c.(2368-2370)tcG>tcA	p.S790S		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	790	Poly-Ser.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S790S(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGAAGAACTCGAATTCTGTG	0.398																																					p.S790S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2370A	20						.	C		1,3699		0,1,1849	105.0	90.0	95.0		2370	2.6	1.0	20		95	0,8174		0,0,4087	no	coding-synonymous	RALGAPA2	NM_020343.3		0,1,5936	TT,TC,CC		0.0,0.027,0.0084		790/1874	20569981	1,11873	1850	4087	5937	20517981	SO:0001819	synonymous_variant	57186	exon18			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2370G>A	20.37:g.20569981C>T		Somatic		Capture	Illumina HiSeq	Phase_I	20517981	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	9.807	1.182243	0.21787	2.7E-4	0.0	ENSG00000188559	ENST00000430436	.	.	.	5.61	2.58	0.30949	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50004	-0.8878	4	.	.	.	.	8.4874	0.33080	0.0:0.6931:0.0:0.3069	.	.	.	.	Q	607	.	.	R	-	2	0	RALGAPA2	20517981	0.012000	0.17670	0.989000	0.46669	0.975000	0.68041	-0.395000	0.07287	0.390000	0.25115	0.650000	0.86243	CGA		0.398	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
XRN2	22803	broad.mit.edu	37	20	21312420	21312420	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:21312420G>T	ENST00000377191.3	+	8	759	c.664G>T	c.(664-666)Gac>Tac	p.D222Y	XRN2_ENST00000430571.2_Missense_Mutation_p.D146Y|XRN2_ENST00000539513.1_Missense_Mutation_p.D168Y	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	222					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D222Y(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCCTAACCATGACCCAAATAC	0.343																																					p.D222Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664T	20						.						227.0	199.0	209.0					20																	21312420		2203	4300	6503	21260420	SO:0001583	missense	22803	exon8			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.664G>T	20.37:g.21312420G>T	ENSP00000366396:p.Asp222Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21260420	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421264	0.83559	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.37411	1.22;1.2;1.21	5.18	5.18	0.71444	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84052	0.0370	10	0.87932	D	0	-18.0977	19.0515	0.93049	0.0:0.0:1.0:0.0	.	222	Q9H0D6	XRN2_HUMAN	Y	222;146;168	ENSP00000366396:D222Y;ENSP00000413548:D146Y;ENSP00000441113:D168Y	ENSP00000366396:D222Y	D	+	1	0	XRN2	21260420	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.247000	0.95444	2.556000	0.86216	0.655000	0.94253	GAC		0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
CD93	22918	broad.mit.edu	37	20	23064959	23064959	+	Missense_Mutation	SNP	G	G	A	rs201836966	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:23064959G>A	ENST00000246006.4	-	1	2018	c.1871C>T	c.(1870-1872)gCg>gTg	p.A624V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	624					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.A624V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACTGTCTGCCGCATTCTGGGG	0.617																																					p.A624V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1871T	20						.						135.0	135.0	135.0					20																	23064959		2203	4300	6503	23012959	SO:0001583	missense	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1871C>T	20.37:g.23064959G>A	ENSP00000246006:p.Ala624Val	Somatic		Capture	Illumina HiSeq	Phase_I	23012959	NM_012072	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245084	0.59103	.	.	ENSG00000125810	ENST00000246006	D	0.86297	-2.1	6.03	6.03	0.97812	.	0.097275	0.44902	D	0.000410	D	0.91106	0.7200	M	0.63843	1.955	0.37267	D	0.907253	D	0.76494	0.999	P	0.55161	0.77	D	0.92454	0.5972	10	0.72032	D	0.01	-14.5452	19.6126	0.95616	0.0:0.0:1.0:0.0	.	624	Q9NPY3	C1QR1_HUMAN	V	624	ENSP00000246006:A624V	ENSP00000246006:A624V	A	-	2	0	CD93	23012959	0.954000	0.32549	0.030000	0.17652	0.002000	0.02628	4.343000	0.59348	2.880000	0.98712	0.650000	0.86243	GCG		0.617	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
CST4	1472	broad.mit.edu	37	20	23669430	23669430	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:23669430G>A	ENST00000217423.3	-	1	247	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	59					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.T59T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ACTCATCTTCGGTGGCCTTGT	0.577																																					p.T59T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	20						.						136.0	117.0	123.0					20																	23669430		2203	4300	6503	23617430	SO:0001819	synonymous_variant	1472	exon1				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.177C>T	20.37:g.23669430G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23617430	NM_001899	Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	CCDS13159.1																																																																																				0.577	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899	
NOP56	10528	broad.mit.edu	37	20	2635158	2635158	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:2635158G>A	ENST00000329276.5	+	4	823	c.307G>A	c.(307-309)Gca>Aca	p.A103T	SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	103					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.A103T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGGTGCCGCAATACAGGA	0.517																																					p.A103T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G307A	20						.						119.0	111.0	114.0					20																	2635158		2203	4300	6503	2583158	SO:0001583	missense	10528	exon4			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.307G>A	20.37:g.2635158G>A	ENSP00000370589:p.Ala103Thr	Somatic		Capture	Illumina HiSeq	Phase_I	2583158	NM_006392	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829896	0.91036	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.60797	0.16;0.81	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.80746	2.51	0.80722	D	1	P	0.38335	0.627	B	0.24394	0.053	T	0.64927	-0.6292	10	0.52906	T	0.07	-12.981	17.5206	0.87786	0.0:0.0:1.0:0.0	.	103	O00567	NOP56_HUMAN	T	103	ENSP00000370589:A103T;ENSP00000388497:A103T	ENSP00000370589:A103T	A	+	1	0	NOP56	2583158	1.000000	0.71417	0.982000	0.44146	0.938000	0.57974	9.522000	0.98032	2.725000	0.93324	0.555000	0.69702	GCA		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392	
CPXM1	56265	broad.mit.edu	37	20	2779513	2779513	+	Nonsense_Mutation	SNP	G	G	A	rs201037077		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:2779513G>A	ENST00000380605.2	-	2	263	c.199C>T	c.(199-201)Cga>Tga	p.R67*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	67					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R67*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTGATGACTCGAATCCGGACA	0.562																																					p.R67X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C199T	20						.						124.0	123.0	123.0					20																	2779513		2203	4300	6503	2727513	SO:0001587	stop_gained	56265	exon2			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.199C>T	20.37:g.2779513G>A	ENSP00000369979:p.Arg67*	Somatic		Capture	Illumina HiSeq	Phase_I	2727513	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Nonsense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198057	0.94997	.	.	ENSG00000088882	ENST00000380605	.	.	.	4.75	4.75	0.60458	.	3.060610	0.01315	N	0.010740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3022	13.1188	0.59314	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000369979:R67X	R	-	1	2	CPXM1	2727513	0.803000	0.28956	0.036000	0.18154	0.878000	0.50629	4.235000	0.58666	2.479000	0.83701	0.563000	0.77884	CGA		0.562	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
VPS16	64601	broad.mit.edu	37	20	2845274	2845274	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:2845274A>T	ENST00000380445.3	+	19	1972	c.1900A>T	c.(1900-1902)Atc>Ttc	p.I634F	VPS16_ENST00000380443.3_Missense_Mutation_p.I320F|VPS16_ENST00000380469.3_Missense_Mutation_p.I490F|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	634					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.I634F(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAGCTTCCACATCCGAGCCAG	0.572																																					p.I490F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1468T	20						.						127.0	125.0	125.0					20																	2845274		2203	4300	6503	2793274	SO:0001583	missense	64601	exon15			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1900A>T	20.37:g.2845274A>T	ENSP00000369810:p.Ile634Phe	Somatic		Capture	Illumina HiSeq	Phase_I	2793274	NM_080413	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104658	0.37145	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.41065	1.01;1.01;1.01	5.34	-2.7	0.06004	Vps16, C-terminal (1);	0.245572	0.40728	N	0.001027	T	0.30198	0.0757	L	0.29908	0.895	0.80722	D	1	B;P;D;P	0.56521	0.411;0.487;0.976;0.934	B;B;P;P	0.51266	0.398;0.361;0.664;0.541	T	0.23797	-1.0178	10	0.72032	D	0.01	-1.5042	2.5342	0.04711	0.3201:0.1435:0.3973:0.1391	.	110;320;490;634	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	F	634;490;320	ENSP00000369810:I634F;ENSP00000369836:I490F;ENSP00000369808:I320F	ENSP00000369808:I320F	I	+	1	0	VPS16	2793274	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	1.765000	0.38481	-0.563000	0.06078	0.459000	0.35465	ATC		0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
APMAP	57136	broad.mit.edu	37	20	24950205	24950205	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:24950205C>A	ENST00000217456.2	-	7	1095	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	APMAP_ENST00000447138.1_Missense_Mutation_p.D269Y	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	269					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.D269Y(1)									AGGACAAAGTCTTCTGCAGGA	0.537																																					p.D269Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805T	20						.						159.0	137.0	144.0					20																	24950205		2203	4300	6503	24898205	SO:0001583	missense	57136	exon7			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.805G>T	20.37:g.24950205C>A	ENSP00000217456:p.Asp269Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24898205	NM_020531	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961870|3.961870	0.74016|0.74016	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000217456;ENST00000447138|ENST00000451442	T;T|.	0.32272|.	1.46;1.46|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Strictosidine synthase, conserved region (1);Six-bladed beta-propeller, TolB-like (1);|.	0.041576|.	0.85682|.	D|.	0.000000|.	T|T	0.77308|0.77308	0.4111|0.4111	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	0.99;1.0;0.952|.	P;D;P|.	0.75020|.	0.88;0.985;0.878|.	T|T	0.76550|0.76550	-0.2918|-0.2918	10|5	0.72032|.	D|.	0.01|.	-28.6077|-28.6077	17.6358|17.6358	0.88122|0.88122	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	269;253;269|.	Q9HDC9-2;A2A2F9;Q9HDC9|.	.;.;APMAP_HUMAN|.	Y|N	269|253	ENSP00000217456:D269Y;ENSP00000415373:D269Y|.	ENSP00000217456:D269Y|.	D|K	-|-	1|3	0|2	C20orf3|C20orf3	24898205|24898205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.406000|0.406000	0.30931|0.30931	7.668000|7.668000	0.83897|0.83897	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.537	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531	
MYLK2	85366	broad.mit.edu	37	20	30407389	30407389	+	Silent	SNP	G	G	A	rs201983158		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:30407389G>A	ENST00000375994.2	+	1	279	c.6G>A	c.(4-6)gcG>gcA	p.A2A	MYLK2_ENST00000375985.4_Silent_p.A2A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	2					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.A2A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACCTCATGGCGACAGAAAATG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20001	0.001		0.0	False		,,,				2504	0.0				p.A2A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6A	20						.						58.0	44.0	49.0					20																	30407389		1999	3863	5862	29871050	SO:0001819	synonymous_variant	85366	exon2			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.6G>A	20.37:g.30407389G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29871050	NM_033118	Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	CCDS13191.1																																																																																				0.532	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118	
FOXS1	2307	broad.mit.edu	37	20	30432372	30432372	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:30432372C>T	ENST00000375978.3	-	1	1048	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	325					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G325E(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAGAACATTCCTGGCGTCCG	0.617																																					p.G325E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974A	20						.						52.0	53.0	53.0					20																	30432372		2203	4299	6502	29896033	SO:0001583	missense	2307	exon1			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.974G>A	20.37:g.30432372C>T	ENSP00000365145:p.Gly325Glu	Somatic		Capture	Illumina HiSeq	Phase_I	29896033	NM_004118	Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374077	0.61735	.	.	ENSG00000179772	ENST00000375978	D	0.95171	-3.63	4.44	4.44	0.53790	.	0.000000	0.47455	D	0.000231	D	0.94298	0.8168	L	0.32530	0.975	0.40517	D	0.980796	D	0.69078	0.997	D	0.64237	0.923	D	0.94720	0.7900	10	0.87932	D	0	.	11.7847	0.52034	0.0:0.822:0.178:0.0	.	325	O43638	FOXS1_HUMAN	E	325	ENSP00000365145:G325E	ENSP00000365145:G325E	G	-	2	0	FOXS1	29896033	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.212000	0.58514	2.303000	0.77524	0.462000	0.41574	GGA		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118	
TTLL9	164395	broad.mit.edu	37	20	30510784	30510784	+	Missense_Mutation	SNP	G	G	A	rs376428616		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:30510784G>A	ENST00000375938.4	+	8	845	c.592G>A	c.(592-594)Gac>Aac	p.D198N	TTLL9_ENST00000375934.4_Missense_Mutation_p.D180N|TTLL9_ENST00000310998.4_Missense_Mutation_p.D148N|TTLL9_ENST00000535842.1_Missense_Mutation_p.D198N|TTLL9_ENST00000375921.2_Missense_Mutation_p.D125N|TTLL9_ENST00000375922.4_Missense_Mutation_p.D125N			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	198	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.D198N(1)|p.D143N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGCTCTGACGACCAGAAAGA	0.393																																					p.D198N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G592A	20						.	G	ASN/ASP	0,3890		0,0,1945	149.0	142.0	144.0		592	3.4	0.9	20		144	2,8276		0,2,4137	no	missense	TTLL9	NM_001008409.2	23	0,2,6082	AA,AG,GG		0.0242,0.0,0.0164	benign	198/440	30510784	2,12166	1945	4139	6084	29974445	SO:0001583	missense	164395	exon8			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.592G>A	20.37:g.30510784G>A	ENSP00000365105:p.Asp198Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29974445	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415523	0.25552	0.0	2.42E-4	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.10573	3.72;3.72;3.66;3.61;2.86;3.61	4.35	3.4	0.38934	.	5.741530	0.00397	N	0.000059	T	0.08626	0.0214	N	0.11845	0.185	0.41603	D	0.988861	B;B	0.18166	0.008;0.026	B;B	0.17098	0.014;0.017	T	0.20075	-1.0286	10	0.17369	T	0.5	.	11.2626	0.49091	0.0899:0.0:0.9101:0.0	.	198;85	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	N	198;198;148;125;143;180;125	ENSP00000365105:D198N;ENSP00000442515:D198N;ENSP00000308980:D148N;ENSP00000365086:D125N;ENSP00000365100:D180N;ENSP00000365088:D125N	ENSP00000308980:D148N	D	+	1	0	TTLL9	29974445	1.000000	0.71417	0.918000	0.36340	0.684000	0.39900	4.236000	0.58675	1.073000	0.40885	-0.215000	0.12644	GAC		0.393	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	
LZTS3	9762	broad.mit.edu	37	20	3146987	3146987	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:3146987C>T	ENST00000329152.3	-	2	1876	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.R160Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.R160Q			O60299	LZTS3_HUMAN		160						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R160Q(1)									GGCCGACGGCCGAACTAGTGG	0.617																																					p.R160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	20						.						32.0	36.0	35.0					20																	3146987		2203	4300	6503	3094987	SO:0001583	missense	9762	exon2																														ENST00000329152.3:c.479G>A	20.37:g.3146987C>T	ENSP00000332123:p.Arg160Gln	Somatic		Capture	Illumina HiSeq	Phase_I	3094987	NM_014731	A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196333	0.78902	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.64803	0.02;-0.12;-0.12	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78748	0.4332	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.79674	-0.1705	10	0.87932	D	0	-29.8012	19.7629	0.96329	0.0:1.0:0.0:0.0	.	160;160	O60299-2;O60299	.;PRIP1_HUMAN	Q	160	ENSP00000332123:R160Q;ENSP00000353496:R160Q;ENSP00000338166:R160Q	ENSP00000332123:R160Q	R	-	2	0	RP5-1187M17.10	3094987	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.520000	0.81821	2.666000	0.90696	0.561000	0.74099	CGG		0.617	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2		
KIF3B	9371	broad.mit.edu	37	20	30897951	30897951	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:30897951A>G	ENST00000375712.3	+	2	538	c.371A>G	c.(370-372)gAc>gGc	p.D124G	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	124	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.D124G(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AACTCATTTGACCATATCTTC	0.453																																					p.D124G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A371G	20						.						68.0	62.0	64.0					20																	30897951		2203	4300	6503	30361612	SO:0001583	missense	9371	exon2			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.371A>G	20.37:g.30897951A>G	ENSP00000364864:p.Asp124Gly	Somatic		Capture	Illumina HiSeq	Phase_I	30361612	NM_004798	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277400	0.59758	.	.	ENSG00000101350	ENST00000375712	T	0.75367	-0.93	5.25	4.13	0.48395	Kinesin, motor domain (4);	0.049488	0.85682	D	0.000000	T	0.71187	0.3310	L	0.45352	1.415	0.80722	D	1	B;B	0.31290	0.001;0.318	B;B	0.39379	0.006;0.298	T	0.71351	-0.4619	10	0.66056	D	0.02	.	12.2927	0.54827	0.8581:0.1419:0.0:0.0	.	124;124	B4DYF2;O15066	.;KIF3B_HUMAN	G	124	ENSP00000364864:D124G	ENSP00000364864:D124G	D	+	2	0	KIF3B	30361612	1.000000	0.71417	0.880000	0.34516	0.980000	0.70556	9.139000	0.94554	0.987000	0.38709	0.459000	0.35465	GAC		0.453	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798	
BPIFB6	128859	broad.mit.edu	37	20	31620801	31620801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:31620801G>A	ENST00000349552.1	+	2	109	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	37						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A37T(1)									GGTCCAGAGCGCCATGGATGA	0.557																																					p.A37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	20						.						95.0	89.0	91.0					20																	31620801		2203	4300	6503	31084462	SO:0001583	missense	128859	exon2			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.109G>A	20.37:g.31620801G>A	ENSP00000344929:p.Ala37Thr	Somatic		Capture	Illumina HiSeq	Phase_I	31084462	NM_174897		Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048020	0.75846	.	.	ENSG00000167104	ENST00000349552	T	0.05996	3.36	4.4	4.4	0.53042	.	0.447428	0.18281	N	0.146031	T	0.06872	0.0175	L	0.50919	1.6	0.34750	D	0.731644	P	0.46912	0.886	B	0.39094	0.29	T	0.37220	-0.9715	10	0.14656	T	0.56	.	13.1931	0.59722	0.0:0.0:1.0:0.0	.	37	Q8NFQ5	BPIB6_HUMAN	T	37	ENSP00000344929:A37T	ENSP00000344929:A37T	A	+	1	0	BPIFB6	31084462	0.998000	0.40836	0.954000	0.39281	0.910000	0.53928	4.731000	0.62022	2.394000	0.81467	0.491000	0.48974	GCC		0.557	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	
SLC4A11	83959	broad.mit.edu	37	20	3210288	3210288	+	Missense_Mutation	SNP	C	C	T	rs373915425		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:3210288C>T	ENST00000380056.3	-	13	1719	c.1672G>A	c.(1672-1674)Gcc>Acc	p.A558T	SLC4A11_ENST00000539553.2_Missense_Mutation_p.A542T|SLC4A11_ENST00000380059.3_Missense_Mutation_p.A585T|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	558	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.A558T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTGGGGCTGGCGAGGAAGCTG	0.652																																					p.A585T	NSCLC(190;922 2139 10266 10292 38692)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1753A	20						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	61.0	63.0	62.0		1624,1753,1672	-9.9	0.0	20		62	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	58,58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	542/876,585/919,558/892	3210288	1,13003	2203	4299	6502	3158288	SO:0001583	missense	83959	exon14			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1672G>A	20.37:g.3210288C>T	ENSP00000369396:p.Ala558Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3158288	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	9.811	1.183248	0.21870	0.0	1.16E-4	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78816	-1.21;-1.21;-1.21	4.99	-9.94	0.00449	Bicarbonate transporter, C-terminal (1);	4.216250	0.00397	N	0.000044	T	0.43166	0.1235	N	0.02368	-0.58	0.09310	N	1	B;B;B	0.18741	0.003;0.03;0.017	B;B;B	0.13407	0.003;0.009;0.009	T	0.44174	-0.9345	10	0.15499	T	0.54	.	1.9865	0.03437	0.2387:0.2564:0.0824:0.4225	.	542;585;558	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	T	585;558;542	ENSP00000369399:A585T;ENSP00000369396:A558T;ENSP00000441370:A542T	ENSP00000369396:A558T	A	-	1	0	SLC4A11	3158288	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.998000	0.03701	-1.598000	0.01607	-1.598000	0.00824	GCC		0.652	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		
BPIFB4	149954	broad.mit.edu	37	20	31678557	31678557	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:31678557C>A	ENST00000375483.3	+	8	1095	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	365						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.F326L(1)									AGTACACCTTCTCCAGCCTCC	0.602																																					p.F365L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1095A	20						.						113.0	92.0	100.0					20																	31678557		2203	4300	6503	31142218	SO:0001583	missense	149954	exon8			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1095C>A	20.37:g.31678557C>A	ENSP00000364632:p.Phe365Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31142218	NM_182519	Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	5.121	0.207870	0.09704	.	.	ENSG00000186191	ENST00000375483	T	0.03358	3.96	5.2	2.9	0.33743	.	0.094859	0.43260	D	0.000598	T	0.01061	0.0035	N	0.00793	-1.18	0.29990	N	0.816983	B	0.26483	0.15	B	0.23419	0.046	T	0.42413	-0.9453	10	0.02654	T	1	-30.6251	8.0309	0.30465	0.0:0.7816:0.0:0.2184	.	365	P59827	BPIB4_HUMAN	L	365	ENSP00000364632:F365L	ENSP00000364632:F365L	F	+	3	2	BPIFB4	31142218	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.141000	0.16076	1.195000	0.43115	0.478000	0.44815	TTC		0.602	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	
CBFA2T2	9139	broad.mit.edu	37	20	32212802	32212802	+	Missense_Mutation	SNP	C	C	T	rs146788442		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:32212802C>T	ENST00000346541.3	+	7	1489	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R289C|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R289C|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R318C|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R328C|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R309C	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	318					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R318C(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCGAGAAGTTCGTGATAGACA	0.433																																					p.R309C	Esophageal Squamous(174;142 1955 14837 21276 28041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925T	20						.	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	70.0	73.0		925,865,952	5.7	1.0	20	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CBFA2T2	NM_001032999.2,NM_001039709.1,NM_005093.3	180,180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	309/596,289/576,318/605	32212802	2,13004	2203	4300	6503	31676463	SO:0001583	missense	9139	exon6			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.952C>T	20.37:g.32212802C>T	ENSP00000262653:p.Arg318Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31676463	NM_001032999	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795148	0.70452	2.27E-4	1.16E-4	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.59502	0.31;0.32;0.31;0.26;0.84	5.73	5.73	0.89815	.	0.049039	0.85682	D	0.000000	T	0.69296	0.3095	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.59703	0.828;0.862	T	0.71896	-0.4454	10	0.87932	D	0	-1.0E-4	13.3763	0.60741	0.2751:0.7249:0.0:0.0	.	318;309	O43439;F8W6D7	MTG8R_HUMAN;.	C	92;318;309;318;289;328	ENSP00000364428:R318C;ENSP00000345810:R309C;ENSP00000262653:R318C;ENSP00000380902:R289C;ENSP00000352622:R328C	ENSP00000345810:R309C	R	+	1	0	CBFA2T2	31676463	0.999000	0.42202	1.000000	0.80357	0.586000	0.36452	2.802000	0.47916	2.712000	0.92718	0.650000	0.86243	CGT		0.433	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999	
C20orf194	25943	broad.mit.edu	37	20	3285157	3285157	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:3285157A>C	ENST00000252032.9	-	21	1779	c.1712T>G	c.(1711-1713)tTt>tGt	p.F571C	C20orf194_ENST00000453730.2_Missense_Mutation_p.F309C|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	571								p.F571C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACAGTGAGAAAACAGAAGGCC	0.448																																					p.F571C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1712G	20						.						102.0	93.0	96.0					20																	3285157		1907	4126	6033	3233157	SO:0001583	missense	25943	exon21			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1712T>G	20.37:g.3285157A>C	ENSP00000252032:p.Phe571Cys	Somatic		Capture	Illumina HiSeq	Phase_I	3233157	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981938	0.74474	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.46063	1.76;0.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.72894	2.215	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.71870	0.964;0.975	T	0.66524	-0.5902	10	0.87932	D	0	.	13.4105	0.60940	1.0:0.0:0.0:0.0	.	310;571	Q0IIP3;Q5TEA3	.;CT194_HUMAN	C	571;309	ENSP00000252032:F571C;ENSP00000407229:F309C	ENSP00000252032:F571C	F	-	2	0	C20orf194	3233157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.441000	0.66569	2.139000	0.66308	0.402000	0.26972	TTT		0.448	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
C20orf194	25943	broad.mit.edu	37	20	3298942	3298942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:3298942C>A	ENST00000252032.9	-	17	1529	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.E226*|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	488								p.E488*(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTACCCTTTTCTTTAACTAAG	0.338																																					p.E488X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1462T	20						.						85.0	83.0	84.0					20																	3298942		1817	4077	5894	3246942	SO:0001587	stop_gained	25943	exon17			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1462G>T	20.37:g.3298942C>A	ENSP00000252032:p.Glu488*	Somatic		Capture	Illumina HiSeq	Phase_I	3246942	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	38	7.156900	0.98103	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.63	5.63	0.86233	.	0.055696	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.4594	0.90734	0.0:1.0:0.0:0.0	.	.	.	.	X	488;226	.	ENSP00000252032:E488X	E	-	1	0	C20orf194	3246942	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.247000	0.51422	2.639000	0.89480	0.650000	0.86243	GAA		0.338	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
RALY	22913	broad.mit.edu	37	20	32659984	32659984	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:32659984A>C	ENST00000246194.3	+	3	606	c.104A>C	c.(103-105)aAa>aCa	p.K35T	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.K35T	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K35T(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGGTGAAGAAATCAGATGTG	0.493																																					p.K35T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A104C	20						.						127.0	118.0	121.0					20																	32659984		2203	4300	6503	32123645	SO:0001583	missense	22913	exon3			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.104A>C	20.37:g.32659984A>C	ENSP00000246194:p.Lys35Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32123645	NM_016732	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907247	0.92107	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000333552;ENST00000442805	T;T;T;T;T;T	0.28666	2.3;2.3;2.3;2.3;1.6;2.3	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.39633	1.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.44065	-0.9352	10	0.59425	D	0.04	-24.1544	15.6711	0.77274	1.0:0.0:0.0:0.0	.	35;35	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	T	35	ENSP00000364255:K35T;ENSP00000413638:K35T;ENSP00000246194:K35T;ENSP00000403744:K35T;ENSP00000327522:K35T;ENSP00000415973:K35T	ENSP00000246194:K35T	K	+	2	0	RALY	32123645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.970000	0.93415	2.285000	0.76669	0.477000	0.44152	AAA		0.493	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1		
C20orf194	25943	broad.mit.edu	37	20	3355716	3355716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:3355716G>A	ENST00000252032.9	-	5	533	c.466C>T	c.(466-468)Cga>Tga	p.R156*		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	156								p.R156*(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTACAGTCTCGAACCATGTCC	0.403																																					p.R156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C466T	20						.						263.0	250.0	254.0					20																	3355716		1855	4089	5944	3303716	SO:0001587	stop_gained	25943	exon5			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.466C>T	20.37:g.3355716G>A	ENSP00000252032:p.Arg156*	Somatic		Capture	Illumina HiSeq	Phase_I	3303716	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	37	6.298571	0.97453	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.74	2.58	0.30949	.	0.075972	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8595	0.63550	0.0:0.0:0.5742:0.4258	.	.	.	.	X	156	.	ENSP00000252032:R156X	R	-	1	2	C20orf194	3303716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.220000	0.42908	0.270000	0.21984	0.650000	0.86243	CGA		0.403	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
NCOA6	23054	broad.mit.edu	37	20	33329618	33329618	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:33329618G>T	ENST00000374796.2	-	12	7012	c.4442C>A	c.(4441-4443)tCt>tAt	p.S1481Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1481Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1481					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1481Y(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATAGCAGGAGACACCAAATT	0.453																																					p.S1481Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4442A	20						.						106.0	96.0	99.0					20																	33329618		2203	4300	6503	32793279	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4442C>A	20.37:g.33329618G>T	ENSP00000363929:p.Ser1481Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	32793279	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598310	0.46318	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.36340	1.26;1.26	5.37	4.4	0.53042	.	0.000000	0.64402	D	0.000001	T	0.28896	0.0717	L	0.29908	0.895	0.47183	D	0.999347	B	0.18863	0.031	B	0.13407	0.009	T	0.11470	-1.0586	10	0.87932	D	0	-10.9451	14.6569	0.68838	0.071:0.0:0.929:0.0	.	1481	Q14686	NCOA6_HUMAN	Y	1481	ENSP00000363929:S1481Y;ENSP00000351894:S1481Y	ENSP00000351894:S1481Y	S	-	2	0	NCOA6	32793279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.830000	0.75319	2.793000	0.96121	0.591000	0.81541	TCT		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
CEP250	11190	broad.mit.edu	37	20	34092155	34092155	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:34092155G>A	ENST00000397527.1	+	30	6678	c.5958G>A	c.(5956-5958)gaG>gaA	p.E1986E	CEP250_ENST00000342580.4_Silent_p.E1930E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1986	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E1986E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATCTCCTCGAGCAGGCAGAAT	0.662																																					p.E1986E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5958A	20						.						14.0	16.0	15.0					20																	34092155		2198	4294	6492	33555569	SO:0001819	synonymous_variant	11190	exon30			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5958G>A	20.37:g.34092155G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33555569	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																				0.662	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
RBM39	9584	broad.mit.edu	37	20	34313006	34313006	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:34313006C>A	ENST00000253363.6	-	7	511	c.488G>T	c.(487-489)aGa>aTa	p.R163I	RBM39_ENST00000528062.3_Missense_Mutation_p.R141I|RBM39_ENST00000407261.4_Missense_Mutation_p.R6I|RBM39_ENST00000361162.6_Missense_Mutation_p.R163I			Q14498	RBM39_HUMAN	RNA binding motif protein 39	163	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R163I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGGTCGAATTCTTGCCGCCAG	0.373																																					p.R163I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488T	20						.						106.0	105.0	106.0					20																	34313006		2203	4300	6503	33776420	SO:0001583	missense	9584	exon7			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.488G>T	20.37:g.34313006C>A	ENSP00000253363:p.Arg163Ile	Somatic		Capture	Illumina HiSeq	Phase_I	33776420	NM_004902	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.368092|5.368092	0.95900|0.95900	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000448303|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T;T	.|0.43688	.|2.38;2.38;2.38;3.34;2.38;2.38;0.94	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.060358	.|0.85682	.|D	.|0.000000	T|T	0.68677|0.68677	0.3027|0.3027	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.67145	.|0.985;0.996;0.812;0.967;0.966	.|P;D;P;P;P	.|0.68483	.|0.886;0.958;0.871;0.886;0.837	T|T	0.74441|0.74441	-0.3664|-0.3664	5|10	.|0.72032	.|D	.|0.01	.|.	18.4905|18.4905	0.90844|0.90844	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;141;163;163;139	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	N|I	35|163;163;141;6;162;141;163	.|ENSP00000253363:R163I;ENSP00000354437:R163I;ENSP00000436747:R141I;ENSP00000384541:R6I;ENSP00000363150:R162I;ENSP00000406801:R141I;ENSP00000393493:R163I	.|ENSP00000253363:R163I	K|R	-|-	3|2	2|0	RBM39|RBM39	33776420|33776420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.567000|7.567000	0.82357|0.82357	2.599000|2.599000	0.87857|0.87857	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.373	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
PHF20	51230	broad.mit.edu	37	20	34451288	34451288	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:34451288A>C	ENST00000374012.3	+	6	903	c.774A>C	c.(772-774)agA>agC	p.R258S	PHF20_ENST00000439301.1_Splice_Site_p.K237Q|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	258					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R258S(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AACCCAAAAGAAAACGAGGCA	0.458																																					p.R258S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A774C	20						.						112.0	122.0	119.0					20																	34451288		2203	4300	6503	33914702	SO:0001583	missense	51230	exon6			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.774A>C	20.37:g.34451288A>C	ENSP00000363124:p.Arg258Ser	Somatic		Capture	Illumina HiSeq	Phase_I	33914702	NM_016436	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.98|10.98	1.504796|1.504796	0.26949|0.26949	.|.	.|.	ENSG00000025293|ENSG00000025293	ENST00000439301|ENST00000374012;ENST00000339089;ENST00000374000;ENST00000449988	T|T;T;T	0.44881|0.58060	0.91|1.11;0.36;0.37	5.83|5.83	3.56|3.56	0.40772|0.40772	.|AT hook, DNA-binding motif (1);	.|0.460271	.|0.24544	.|N	.|0.037603	T|T	0.49813|0.49813	0.1579|0.1579	N|N	0.24115|0.24115	0.695|0.695	0.23221|0.23221	N|N	0.998094|0.998094	.|D;D;D	.|0.76494	.|0.999;0.989;0.99	.|D;D;P	.|0.70935	.|0.971;0.927;0.894	T|T	0.37709|0.37709	-0.9694|-0.9694	7|10	0.15066|0.09084	T|T	0.55|0.74	.|.	8.3387|8.3387	0.32230|0.32230	0.7877:0.0:0.2123:0.0|0.7877:0.0:0.2123:0.0	.|.	.|258;258;258	.|Q566Q2;Q9BVI0;Q66K49	.|.;PHF20_HUMAN;.	Q|S	237|258;258;258;151	ENSP00000410373:K237Q|ENSP00000363124:R258S;ENSP00000341900:R258S;ENSP00000363112:R258S	ENSP00000410373:K237Q|ENSP00000341900:R258S	K|R	+|+	1|3	0|2	PHF20|PHF20	33914702|33914702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.511000|1.511000	0.35801|0.35801	1.003000|1.003000	0.39130|0.39130	0.459000|0.459000	0.35465|0.35465	AAA|AGA		0.458	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
DSN1	79980	broad.mit.edu	37	20	35399481	35399481	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:35399481C>A	ENST00000426836.1	-	3	522	c.150G>T	c.(148-150)gaG>gaT	p.E50D	DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.E50D|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.E50D|DSN1_ENST00000448110.2_Missense_Mutation_p.E34D	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	50					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.E50D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GAATTCTTTCCTCTGAAACGC	0.448																																					p.E34D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G102T	20						.						161.0	161.0	161.0					20																	35399481		2203	4300	6503	34832895	SO:0001583	missense	79980	exon2			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.150G>T	20.37:g.35399481C>A	ENSP00000389810:p.Glu50Asp	Somatic		Capture	Illumina HiSeq	Phase_I	34832895	NM_001145318	B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999307	0.35226	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	5.11	1.95	0.26073	.	0.873050	0.09968	N	0.732564	T	0.28400	0.0702	L	0.27053	0.805	0.22684	N	0.998854	B	0.22276	0.067	B	0.17433	0.018	T	0.24941	-1.0146	9	0.62326	D	0.03	4.6981	6.11	0.20096	0.0:0.6782:0.0:0.3218	.	50	Q9H410	DSN1_HUMAN	D	50;50;34;50;34;50	.	ENSP00000362850:E50D	E	-	3	2	DSN1	34832895	1.000000	0.71417	0.587000	0.28692	0.715000	0.41141	2.113000	0.41902	0.739000	0.32628	-0.156000	0.13503	GAG		0.448	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918	
ATRN	8455	broad.mit.edu	37	20	3624865	3624865	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:3624865T>G	ENST00000262919.5	+	28	4183	c.4115T>G	c.(4114-4116)tTt>tGt	p.F1372C		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1372					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F1372C(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCTCTGTGTTTGTGAGGCTC	0.532																																					p.F1372C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4115G	20						.						121.0	105.0	110.0					20																	3624865		2203	4300	6503	3572865	SO:0001583	missense	8455	exon28			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4115T>G	20.37:g.3624865T>G	ENSP00000262919:p.Phe1372Cys	Somatic		Capture	Illumina HiSeq	Phase_I	3572865	NM_139321	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680467	0.88542	.	.	ENSG00000088812	ENST00000262919	T	0.07327	3.2	5.26	5.26	0.73747	.	0.053197	0.85682	D	0.000000	T	0.27169	0.0666	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.00934	-1.1509	10	0.72032	D	0.01	-10.1512	14.9913	0.71390	0.0:0.0:0.0:1.0	.	1372	O75882	ATRN_HUMAN	C	1372	ENSP00000262919:F1372C	ENSP00000262919:F1372C	F	+	2	0	ATRN	3572865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.205000	0.71048	0.455000	0.32223	TTT		0.532	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
MROH8	140699	broad.mit.edu	37	20	35743606	35743606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:35743606C>A	ENST00000400441.3	-	19	2504	c.2505G>T	c.(2503-2505)atG>atT	p.M835I	MROH8_ENST00000217333.8_Missense_Mutation_p.M664I|MROH8_ENST00000441008.2_Missense_Mutation_p.M821I			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.M835I(1)									GGGTCCTCATCATGGCAGCCA	0.463																																					p.D836Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2506T	20						.						125.0	123.0	123.0					20																	35743606		2008	4175	6183	35177020	SO:0001583	missense	140699	exon18			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2505G>T	20.37:g.35743606C>A	ENSP00000383291:p.Met835Ile	Somatic		Capture	Illumina HiSeq	Phase_I	35177020	NM_152503	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.53|12.53|12.53	1.966931|1.966931|1.966931	0.34659|0.34659|0.34659	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811	.|T;T;T|.	.|0.61627|.	.|0.11;1.78;0.09|.	5.27|5.27|5.27	4.25|4.25|4.25	0.50352|0.50352|0.50352	.|.|.	.|0.386929|.	.|0.26377|.	.|N|.	.|0.024724|.	T|T|.	0.40040|0.40040|.	0.1101|0.1101|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.32462|0.32462|0.32462	N|N|N	0.543928|0.543928|0.543928	.|B;B|.	.|0.06786|.	.|0.0;0.001|.	.|B;B|.	.|0.10450|.	.|0.001;0.005|.	T|T|.	0.44772|0.44772|.	-0.9306|-0.9306|.	5|10|.	.|0.05351|.	.|T|.	.|0.99|.	-17.8986|-17.8986|-17.8986	10.7892|10.7892|10.7892	0.46424|0.46424|0.46424	0.0:0.7544:0.2456:0.0|0.0:0.7544:0.2456:0.0|0.0:0.7544:0.2456:0.0	.|.|.	.|835;669|.	.|E7ETR9;Q9H579-2|.	.|.;.|.	Y|I|L	463|821;835;664|862	.|ENSP00000392144:M821I;ENSP00000383291:M835I;ENSP00000217333:M664I|.	.|ENSP00000217333:M664I|.	D|M|X	-|-|-	1|3|2	0|0|2	C20orf132|C20orf132|C20orf132	35177020|35177020|35177020	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	1.042000|1.042000|1.042000	0.30303|0.30303|0.30303	2.615000|2.615000|2.615000	0.88500|0.88500|0.88500	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATG|TGA		0.463	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
TGM2	7052	broad.mit.edu	37	20	36758719	36758719	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:36758719G>A	ENST00000361475.2	-	13	2139	c.1966C>T	c.(1966-1968)Ccg>Tcg	p.P656S	TGM2_ENST00000536701.1_Missense_Mutation_p.P575S|TGM2_ENST00000536724.1_Missense_Mutation_p.P596S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	656					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P656S(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATGTGGAGCGGCAGCAGGTCC	0.622																																					p.P656S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1966T	20						.						56.0	43.0	48.0					20																	36758719		2203	4300	6503	36192133	SO:0001583	missense	7052	exon13			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1966C>T	20.37:g.36758719G>A	ENSP00000355330:p.Pro656Ser	Somatic		Capture	Illumina HiSeq	Phase_I	36192133	NM_004613	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611393	0.66558	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.73575	-0.76;-0.76;-0.76	5.19	5.19	0.71726	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89612	0.6765	M	0.93016	3.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92109	0.5694	10	0.87932	D	0	-36.2765	17.7772	0.88513	0.0:0.0:1.0:0.0	.	596;575;656;62	F5H6P0;B4DIT7;P21980;Q6DKH2	.;.;TGM2_HUMAN;.	S	656;575;596	ENSP00000355330:P656S;ENSP00000444701:P575S;ENSP00000437479:P596S	ENSP00000355330:P656S	P	-	1	0	TGM2	36192133	1.000000	0.71417	0.982000	0.44146	0.036000	0.12997	9.304000	0.96190	2.446000	0.82766	0.555000	0.69702	CCG		0.622	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
TGM2	7052	broad.mit.edu	37	20	36768009	36768009	+	Missense_Mutation	SNP	C	C	T	rs137876403		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:36768009C>T	ENST00000361475.2	-	9	1320	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	TGM2_ENST00000536701.1_Missense_Mutation_p.D302N|TGM2_ENST00000536724.1_Missense_Mutation_p.D323N	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	383					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D383N(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTGCTCAGGTCGCCCTCCTTG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		21523	0.001		0.0	False		,,,				2504	0.0				p.D383N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147A	20						.						104.0	75.0	85.0					20																	36768009		2203	4300	6503	36201423	SO:0001583	missense	7052	exon9			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1147G>A	20.37:g.36768009C>T	ENSP00000355330:p.Asp383Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36201423	NM_198951	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.08	3.297463	0.60086	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.26373	1.74;1.74;1.74	4.91	3.95	0.45737	.	0.259681	0.44285	D	0.000470	T	0.29556	0.0737	M	0.62723	1.935	0.50632	D	0.999885	B;B;B;B;B	0.22003	0.031;0.014;0.063;0.018;0.002	B;B;B;B;B	0.24701	0.041;0.014;0.055;0.018;0.006	T	0.10753	-1.0616	10	0.49607	T	0.09	-11.6624	14.2586	0.66070	0.0:0.8501:0.1499:0.0	.	323;302;383;323;383	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	N	383;302;323	ENSP00000355330:D383N;ENSP00000444701:D302N;ENSP00000437479:D323N	ENSP00000355330:D383N	D	-	1	0	TGM2	36201423	0.983000	0.35010	0.857000	0.33713	0.917000	0.54804	2.627000	0.46469	1.261000	0.44149	0.591000	0.81541	GAC		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
RALGAPB	57148	broad.mit.edu	37	20	37161424	37161424	+	Missense_Mutation	SNP	A	A	C	rs150506409		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:37161424A>C	ENST00000262879.6	+	15	2451	c.2167A>C	c.(2167-2169)Agt>Cgt	p.S723R	RALGAPB_ENST00000397038.1_Missense_Mutation_p.S501R|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S723R|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S723R			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	723					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S723R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGTGGTATTAGTTCAGCAAG	0.428																																					p.S723R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2167C	20						.						108.0	102.0	104.0					20																	37161424		2203	4300	6503	36594838	SO:0001583	missense	57148	exon15			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2167A>C	20.37:g.37161424A>C	ENSP00000262879:p.Ser723Arg	Somatic		Capture	Illumina HiSeq	Phase_I	36594838	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	33	5.225874	0.95173	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.64830	0.962;0.994;0.994;0.994	P;D;D;D	0.74348	0.697;0.983;0.983;0.983	T	0.76615	-0.2894	9	0.51188	T	0.08	.	16.0785	0.80982	1.0:0.0:0.0:0.0	.	551;723;723;723	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	R	723;723;723;501;723;551	.	ENSP00000262879:S723R	S	+	1	0	RALGAPB	36594838	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.200000	0.70718	0.379000	0.24179	AGT		0.428	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
SLC32A1	140679	broad.mit.edu	37	20	37356277	37356277	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:37356277C>T	ENST00000217420.1	+	2	836	c.573C>T	c.(571-573)aaC>aaT	p.N191N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	191					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.N191N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCATAGCCAACGCCTGCTGCG	0.632																																					p.N191N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573T	20						.						83.0	67.0	72.0					20																	37356277		2203	4300	6503	36789691	SO:0001819	synonymous_variant	140679	exon2			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.573C>T	20.37:g.37356277C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36789691	NM_080552	Q8N489	Silent	SNP	ENST00000217420.1	37	CCDS13307.1																																																																																				0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
LPIN3	64900	broad.mit.edu	37	20	39974446	39974446	+	Start_Codon_SNP	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:39974446G>T	ENST00000373257.3	+	2	94	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	1	N-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.M1I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CACCAGCCATGAACTACGTGG	0.612																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	20						.						63.0	64.0	64.0					20																	39974446		2203	4300	6503	39407860	SO:0001582	initiator_codon_variant	64900	exon2			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.3G>T	20.37:g.39974446G>T	ENSP00000362354:p.Met1Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39407860	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977335	0.53720	.	.	ENSG00000132793	ENST00000373257	D	0.82803	-1.65	5.49	4.53	0.55603	Lipin, N-terminal (1);	0.137443	0.64402	N	0.000006	D	0.90335	0.6976	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.576	D;B	0.71870	0.975;0.178	D	0.90708	0.4625	8	.	.	.	-29.8275	15.2971	0.73916	0.0:0.0:0.8585:0.1415	.	1;1	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	I	1	ENSP00000362354:M1I	.	M	+	3	0	LPIN3	39407860	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	9.450000	0.97607	1.286000	0.44565	-0.314000	0.08810	ATG		0.612	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	Missense_Mutation
PTPRT	11122	broad.mit.edu	37	20	40709552	40709552	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:40709552G>A	ENST00000373187.1	-	31	4292	c.4293C>T	c.(4291-4293)taC>taT	p.Y1431Y	PTPRT_ENST00000373201.1_Silent_p.Y1421Y|PTPRT_ENST00000373193.3_Silent_p.Y1434Y|PTPRT_ENST00000356100.2_Silent_p.Y1440Y|PTPRT_ENST00000373190.1_Silent_p.Y1430Y|PTPRT_ENST00000373184.1_Silent_p.Y1441Y|PTPRT_ENST00000373198.4_Silent_p.Y1450Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1431	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.Y1453Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGCCACCTCGTATACAAATT	0.488																																					p.Y1450Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4350T	20						.						50.0	54.0	53.0					20																	40709552		2048	4219	6267	40142966	SO:0001819	synonymous_variant	11122	exon32			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4293C>T	20.37:g.40709552G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40142966	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.488	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
L3MBTL1	26013	broad.mit.edu	37	20	42157324	42157324	+	Missense_Mutation	SNP	C	C	T	rs143835872	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:42157324C>T	ENST00000427442.2	+	8	983	c.824C>T	c.(823-825)tCg>tTg	p.S275L	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S275L|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.S207L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.S207L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S207L|L3MBTL1_ENST00000457824.1_3'UTR			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	207					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S207L(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GAATGCTGGTCGTGGGAGTCC	0.532																																					p.S275L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824T	20						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	115.0	92.0	100.0		620,824	5.6	0.9	20	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	L3MBTL1	NM_015478.6,NM_032107.4	145,145	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	207/773,275/841	42157324	3,13003	2203	4300	6503	41590738	SO:0001583	missense	26013	exon8			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.824C>T	20.37:g.42157324C>T	ENSP00000402107:p.Ser275Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41590738	NM_032107	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559737	0.86335	0.0	3.49E-4	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.55	5.55	0.83447	.	0.133495	0.51477	D	0.000086	D	0.94935	0.8362	M	0.85859	2.78	0.38697	D	0.952909	D;D;D;D	0.89917	0.994;0.994;1.0;1.0	P;B;P;D	0.64877	0.757;0.415;0.86;0.93	D	0.95593	0.8656	10	0.54805	T	0.06	.	13.2764	0.60189	0.1587:0.8413:0.0:0.0	.	275;207;207;207	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	L	275;275;207;207;207	ENSP00000402107:S275L;ENSP00000398516:S275L;ENSP00000362227:S207L;ENSP00000403316:S207L;ENSP00000362226:S207L	ENSP00000362226:S207L	S	+	2	0	L3MBTL1	41590738	0.778000	0.28640	0.950000	0.38849	0.902000	0.53008	1.767000	0.38501	2.626000	0.88956	0.557000	0.71058	TCG		0.532	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	
MYBL2	4605	broad.mit.edu	37	20	42343898	42343898	+	Missense_Mutation	SNP	G	G	A	rs200657309	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:42343898G>A	ENST00000217026.4	+	13	2076	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	MYBL2_ENST00000396863.4_Missense_Mutation_p.R626Q	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	650					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R650Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGAAGCCCCGAAGCCACTTC	0.612													g|||	87	0.0173722	0.0068	0.0216	5008	,	,		15650	0.0337		0.0288	False		,,,				2504	0.0				p.R650Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1949A	20						.						103.0	113.0	109.0					20																	42343898		2203	4300	6503	41777312	SO:0001583	missense	4605	exon13				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1949G>A	20.37:g.42343898G>A	ENSP00000217026:p.Arg650Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41777312	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	12	0.005494505494505495	1	0.0020325203252032522	0	0.0	8	0.013986013986013986	3	0.00395778364116095	g	5.988	0.366226	0.11352	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15372	2.43;2.44	4.43	2.34	0.29019	.	0.377635	0.21280	N	0.077172	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.14578	0.011;0.001	T	0.16689	-1.0394	10	0.41790	T	0.15	-10.5302	2.4012	0.04401	0.1089:0.1882:0.5083:0.1946	.	626;650	F8W6N6;P10244	.;MYBB_HUMAN	Q	626;650	ENSP00000380072:R626Q;ENSP00000217026:R650Q	ENSP00000217026:R650Q	R	+	2	0	MYBL2	41777312	0.019000	0.18553	0.343000	0.25615	0.091000	0.18340	1.612000	0.36889	2.182000	0.69389	0.486000	0.48141	CGA		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
TOX2	84969	broad.mit.edu	37	20	42683106	42683106	+	Silent	SNP	C	C	T	rs147266413		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:42683106C>T	ENST00000358131.5	+	5	1054	c.846C>T	c.(844-846)ttC>ttT	p.F282F	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.F231F|TOX2_ENST00000341197.4_Silent_p.F273F|TOX2_ENST00000423191.2_Silent_p.F231F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	282					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F231F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTGCCACTTTCGGTGACGTGT	0.587																																					p.F231F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	20						.	T	,,,	0,4406		0,0,2203	73.0	65.0	68.0		693,819,846,693	-6.6	0.8	20	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	231/465,273/507,282/489,231/465	42683106	1,13005	2203	4300	6503	42116520	SO:0001819	synonymous_variant	84969	exon6			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.846C>T	20.37:g.42683106C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42116520	NM_032883	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	c	13.89	2.371056	0.42003	0.0	1.16E-4	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.44	-6.64	0.01801	.	.	.	.	.	T	0.71476	0.3344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78555	-0.2159	5	0.87932	D	0	.	17.0696	0.86569	0.0:0.2276:0.0:0.7724	.	.	.	.	L	39	.	ENSP00000362083:S39L	S	+	2	0	TOX2	42116520	0.000000	0.05858	0.847000	0.33407	0.578000	0.36192	-3.242000	0.00543	-1.288000	0.02378	-0.745000	0.03516	TCG		0.587	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
OSER1	51526	broad.mit.edu	37	20	42831647	42831647	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:42831647C>A	ENST00000372970.2	-	5	325	c.145G>T	c.(145-147)Gat>Tat	p.D49Y	OSER1_ENST00000255174.2_Missense_Mutation_p.D49Y			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	49					cellular response to hydrogen peroxide (GO:0070301)			p.D49Y(1)									GGTTTGGTATCATCTGTTGCT	0.393																																					p.D49Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145T	20						.						198.0	151.0	167.0					20																	42831647		2203	4300	6503	42265061	SO:0001583	missense	51526	exon3			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.145G>T	20.37:g.42831647C>A	ENSP00000362061:p.Asp49Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	42265061	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586767	0.86851	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.53423	0.62;0.62	5.9	5.9	0.94986	.	0.244803	0.47852	D	0.000201	T	0.60090	0.2242	L	0.38175	1.15	0.52501	D	0.999956	D	0.63880	0.993	D	0.63597	0.916	T	0.59413	-0.7459	10	0.62326	D	0.03	-6.3322	19.2703	0.94006	0.0:1.0:0.0:0.0	.	49	Q9NX31	CT111_HUMAN	Y	49	ENSP00000255174:D49Y;ENSP00000362061:D49Y	ENSP00000255174:D49Y	D	-	1	0	C20orf111	42265061	0.997000	0.39634	0.982000	0.44146	0.993000	0.82548	5.141000	0.64814	2.806000	0.96561	0.655000	0.94253	GAT		0.393	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	
PABPC1L	80336	broad.mit.edu	37	20	43538950	43538950	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:43538950T>C	ENST00000217073.2	+	1	166	c.166T>C	c.(166-168)Tac>Cac	p.Y56H	PABPC1L_ENST00000537323.1_Missense_Mutation_p.Y56H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.Y56H|PABPC1L_ENST00000255136.3_Missense_Mutation_p.Y56H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	56	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Y56H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGGCTACGCCTACATCAACTT	0.677																																					p.Y56H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T166C	20						.						7.0	9.0	8.0					20																	43538950		1516	3493	5009	42972364	SO:0001583	missense	80336	exon1			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.166T>C	20.37:g.43538950T>C	ENSP00000217073:p.Tyr56His	Somatic		Capture	Illumina HiSeq	Phase_I	42972364	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	T	36	5.707990	0.96821	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.26985	-1.0087	10	0.87932	D	0	.	16.3951	0.83601	0.0:0.0:0.0:1.0	.	56	Q4VXU2	PAP1L_HUMAN	H	56	ENSP00000217074:Y56H;ENSP00000255136:Y56H;ENSP00000445661:Y56H;ENSP00000217073:Y56H	ENSP00000217073:Y56H	Y	+	1	0	PABPC1L	42972364	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.008000	0.88588	2.272000	0.75746	0.460000	0.39030	TAC		0.677	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
WFDC8	90199	broad.mit.edu	37	20	44187579	44187579	+	Silent	SNP	C	C	T	rs140215374	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:44187579C>T	ENST00000357199.4	-	3	267	c.189G>A	c.(187-189)ccG>ccA	p.P63P	WFDC8_ENST00000289953.2_Silent_p.P63P|RNA5SP485_ENST00000365053.1_RNA	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	63	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P63P(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TACATGAGTCCGGAAGTTCAG	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		23580	0.002		0.0	False		,,,				2504	0.0				p.P63P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G189A	20						.						195.0	175.0	182.0					20																	44187579		2203	4300	6503	43620993	SO:0001819	synonymous_variant	90199	exon3			AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.189G>A	20.37:g.44187579C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43620993	NM_130896	E1P623|Q5TDV2|Q96A34	Silent	SNP	ENST00000357199.4	37	CCDS13361.1																																																																																				0.453	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1		
UBE2C	11065	broad.mit.edu	37	20	44444337	44444337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:44444337T>C	ENST00000356455.4	+	4	494	c.374T>C	c.(373-375)cTg>cCg	p.L125P	UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000352551.5_Missense_Mutation_p.L96P|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000405520.1_Missense_Mutation_p.L86P|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000372568.4_Missense_Mutation_p.L86P	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	125					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.L125P(1)		large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TGGTCTGCCCTGTATGATGTC	0.547																																					p.L86P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T257C	20						.						104.0	94.0	97.0					20																	44444337		2203	4300	6503	43877744	SO:0001583	missense	11065	exon4			U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.374T>C	20.37:g.44444337T>C	ENSP00000348838:p.Leu125Pro	Somatic		Capture	Illumina HiSeq	Phase_I	43877744	NM_181801	A6NP33|E1P5N7|G3XAB7	Missense_Mutation	SNP	ENST00000356455.4	37	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439233	0.63067	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000352551;ENST00000372568	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.12	5.12	0.69794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.149784	0.43579	D	0.000547	T	0.63827	0.2544	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.79784	0.993;0.959	T	0.66575	-0.5889	10	0.49607	T	0.09	-9.2747	12.8761	0.57991	0.0:0.0:0.0:1.0	.	96;125	A6NP33;O00762	.;UBE2C_HUMAN	P	125;86;96;86	ENSP00000348838:L125P;ENSP00000385878:L86P;ENSP00000333975:L96P;ENSP00000361649:L86P	ENSP00000333975:L96P	L	+	2	0	UBE2C	43877744	0.933000	0.31639	0.007000	0.13788	0.721000	0.41392	4.622000	0.61240	1.932000	0.55993	0.454000	0.30748	CTG		0.547	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019	
ZSWIM1	90204	broad.mit.edu	37	20	44511248	44511248	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:44511248A>C	ENST00000372523.1	+	2	112	c.17A>C	c.(16-18)aAa>aCa	p.K6T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.K6T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	6						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K6T(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GAGAGACTCAAAGCCCCGTGG	0.488																																					p.K6T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A17C	20						.						83.0	87.0	86.0					20																	44511248		2203	4300	6503	43944655	SO:0001583	missense	90204	exon2			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.17A>C	20.37:g.44511248A>C	ENSP00000361601:p.Lys6Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43944655	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	A	3.529	-0.096202	0.07010	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.25579	1.79;1.79	4.3	-4.93	0.03066	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29366	-1.0014	9	0.51188	T	0.08	.	5.8007	0.18412	0.4516:0.3143:0.2341:0.0	.	6	Q9BR11	ZSWM1_HUMAN	T	6	ENSP00000361601:K6T;ENSP00000361598:K6T	ENSP00000361598:K6T	K	+	2	0	ZSWIM1	43944655	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.457000	0.06745	-0.771000	0.04608	0.533000	0.62120	AAA		0.488	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603	
NCOA5	57727	broad.mit.edu	37	20	44698916	44698916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:44698916G>A	ENST00000290231.6	-	3	462	c.298C>T	c.(298-300)Cga>Tga	p.R100*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	100	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R100*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CGCTGATCTCGAAAATCCCTA	0.483																																					p.R100X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C298T	20						.						109.0	100.0	103.0					20																	44698916		2203	4300	6503	44132323	SO:0001587	stop_gained	57727	exon3				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.298C>T	20.37:g.44698916G>A	ENSP00000290231:p.Arg100*	Somatic		Capture	Illumina HiSeq	Phase_I	44132323	NM_020967	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494926	0.96339	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.17	4.16	0.48862	.	0.148438	0.39615	N	0.001309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6761	15.3572	0.74437	0.0:0.0:0.8513:0.1487	.	.	.	.	X	100	.	ENSP00000290231:R100X	R	-	1	2	NCOA5	44132323	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.815000	0.55651	2.684000	0.91462	0.650000	0.86243	CGA		0.483	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967	
ZNF334	55713	broad.mit.edu	37	20	45130119	45130119	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:45130119C>A	ENST00000347606.4	-	5	2041	c.1859G>T	c.(1858-1860)aGa>aTa	p.R620I	ZNF334_ENST00000593880.1_Missense_Mutation_p.R643I|ZNF334_ENST00000457685.2_Missense_Mutation_p.R582I	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R620I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTGTGAATTCTTCTATGGAC	0.428																																					p.R620I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1859T	20						.						134.0	129.0	131.0					20																	45130119		2203	4300	6503	44563526	SO:0001583	missense	55713	exon5			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1859G>T	20.37:g.45130119C>A	ENSP00000255129:p.Arg620Ile	Somatic		Capture	Illumina HiSeq	Phase_I	44563526	NM_018102	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822714	0.71028	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.24908	1.83;1.83	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46639	0.1403	M	0.66560	2.04	0.49582	D	0.999803	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.49716	-0.8910	9	0.66056	D	0.02	.	12.3185	0.54971	0.0:1.0:0.0:0.0	.	582;620;643	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	I	582;620	ENSP00000402582:R582I;ENSP00000255129:R620I	ENSP00000255129:R620I	R	-	2	0	ZNF334	44563526	0.001000	0.12720	0.949000	0.38748	0.969000	0.65631	1.353000	0.34045	1.798000	0.52647	0.591000	0.81541	AGA		0.428	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
EYA2	2139	broad.mit.edu	37	20	45771706	45771706	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:45771706G>A	ENST00000327619.5	+	10	1271	c.897G>A	c.(895-897)acG>acA	p.T299T	EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_Silent_p.T299T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	299					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.T299T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGGACACCACGACGTCCGTGC	0.502																																					p.T299T	Pancreas(120;56 1725 18501 25218 43520)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G897A	20						.						182.0	136.0	152.0					20																	45771706		2203	4300	6503	45205113	SO:0001819	synonymous_variant	2139	exon10				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.897G>A	20.37:g.45771706G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45205113	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																				0.502	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
ZMYND8	23613	broad.mit.edu	37	20	45875256	45875256	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:45875256T>G	ENST00000311275.7	-	14	1973	c.1720A>C	c.(1720-1722)Aat>Cat	p.N574H	ZMYND8_ENST00000536340.1_Missense_Mutation_p.N601H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.N594H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.N569H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.N574H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.N569H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.N594H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.N594H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.N511H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.N569H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.N574H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.N574H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.N522H	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	574					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.N594H(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGATTTCATTTATGCCTAAA	0.398																																					p.N594H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1780C	20						.						40.0	42.0	42.0					20																	45875256		2187	4260	6447	45308663	SO:0001583	missense	23613	exon14			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1720A>C	20.37:g.45875256T>G	ENSP00000312237:p.Asn574His	Somatic		Capture	Illumina HiSeq	Phase_I	45308663	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.045614|4.045614	0.75846|0.75846	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D	.|0.91068	.|-1.9;-1.8;-1.92;-1.79;-1.92;-1.82;-1.81;-2.78;-1.81;-1.9;-1.95	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.047501	.|0.85682	.|D	.|0.000000	D|D	0.93530|0.93530	0.7935|0.7935	L|L	0.47716|0.47716	1.5|1.5	0.44862|0.44862	D|D	0.997878|0.997878	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.998;0.999;0.998;0.999;0.997;0.998;0.997;0.997;0.998;0.998;0.998;0.998;0.998;0.999;0.998	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.76071	.|0.987;0.968;0.981;0.981;0.975;0.981;0.968;0.968;0.958;0.968;0.968;0.981;0.981;0.981;0.981;0.914;0.975;0.981	D|D	0.94134|0.94134	0.7391|0.7391	5|10	.|0.72032	.|D	.|0.01	-13.0724|-13.0724	16.1549|16.1549	0.81657|0.81657	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|569;601;569;569;549;568;594;574;569;594;594;574;511;569;522;594;522;574	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	T|H	501|569;574;569;575;595;594;574;601;574;511;594;569;522	.|ENSP00000354166:N569H;ENSP00000312237:N574H;ENSP00000392964:N569H;ENSP00000335537:N594H;ENSP00000379577:N574H;ENSP00000439800:N601H;ENSP00000348246:N574H;ENSP00000396725:N511H;ENSP00000418210:N594H;ENSP00000361093:N569H;ENSP00000443086:N522H	.|ENSP00000262975:N575H	K|N	-|-	2|1	0|0	ZMYND8|ZMYND8	45308663|45308663	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	3.738000|3.738000	0.55067|0.55067	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.398	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
ARFGEF2	10564	broad.mit.edu	37	20	47641922	47641922	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:47641922C>T	ENST00000371917.4	+	36	4828	c.4828C>T	c.(4828-4830)Cac>Tac	p.H1610Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1610					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.H1610Y(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTCTTCCCAGCACCTCTTCAA	0.498																																					p.H1610Y	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4828T	20						.						130.0	99.0	109.0					20																	47641922		2203	4300	6503	47075329	SO:0001583	missense	10564	exon36			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4828C>T	20.37:g.47641922C>T	ENSP00000360985:p.His1610Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	47075329	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946814	0.92593	.	.	ENSG00000124198	ENST00000371917	T	0.46063	0.88	5.7	5.7	0.88788	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.48877	1.53	0.80722	D	1	D	0.59357	0.985	P	0.52598	0.703	T	0.50566	-0.8813	10	0.56958	D	0.05	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	1610	Q9Y6D5	BIG2_HUMAN	Y	1610	ENSP00000360985:H1610Y	ENSP00000360985:H1610Y	H	+	1	0	ARFGEF2	47075329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.731000	0.84895	2.687000	0.91594	0.655000	0.94253	CAC		0.498	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
DDX27	55661	broad.mit.edu	37	20	47843002	47843002	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:47843002G>A	ENST00000371764.4	+	7	738	c.729G>A	c.(727-729)ccG>ccA	p.P243P	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	243						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P243P(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCCCACCCCGATCCAGAAGG	0.572																																					p.P243P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G729A	20						.						68.0	59.0	62.0					20																	47843002		2203	4300	6503	47276409	SO:0001819	synonymous_variant	55661	exon7			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.729G>A	20.37:g.47843002G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47276409	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.572	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
ZNFX1	57169	broad.mit.edu	37	20	47887123	47887123	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:47887123C>T	ENST00000396105.1	-	3	1472	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R409Q|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R409Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	409							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R409Q(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGTAGATTCGGATGTCATC	0.453																																					p.R409Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1226A	20						.						154.0	151.0	152.0					20																	47887123		2203	4300	6503	47320530	SO:0001583	missense	57169	exon3			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1226G>A	20.37:g.47887123C>T	ENSP00000379412:p.Arg409Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47320530	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743198	0.89663	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.88277	-2.15;-2.36;-2.36;-1.11;-1.78	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	M	0.81802	2.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.93556	0.6891	10	0.40728	T	0.16	-7.5631	18.7272	0.91718	0.0:1.0:0.0:0.0	.	409	Q9P2E3	ZNFX1_HUMAN	Q	409;409;409;409;409;213	ENSP00000360819:R409Q;ENSP00000360817:R409Q;ENSP00000379412:R409Q;ENSP00000360809:R409Q;ENSP00000413800:R213Q	ENSP00000360809:R409Q	R	-	2	0	ZNFX1	47320530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.717000	0.84732	2.773000	0.95371	0.655000	0.94253	CGA		0.453	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
KCNB1	3745	broad.mit.edu	37	20	47991074	47991074	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:47991074G>A	ENST00000371741.4	-	2	1189	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	341					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.G341G(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGATCATAATGCCCATGGCAA	0.527																																					p.G341G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1023T	20						.						61.0	57.0	58.0					20																	47991074		2203	4300	6503	47424481	SO:0001819	synonymous_variant	3745	exon2			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1023C>T	20.37:g.47991074G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47424481	NM_004975	Q14193	Silent	SNP	ENST00000371741.4	37	CCDS13418.1																																																																																				0.527	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
ATP9A	10079	broad.mit.edu	37	20	50286631	50286631	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:50286631C>T	ENST00000338821.5	-	13	1462	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	ATP9A_ENST00000311637.5_Missense_Mutation_p.E264K|ATP9A_ENST00000402822.1_Missense_Mutation_p.E279K	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	400					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E400K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAAATCATCTCGTTCTGGGTA	0.453																																					p.E400K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1198A	20						.						121.0	110.0	114.0					20																	50286631		2203	4300	6503	49720038	SO:0001583	missense	10079	exon13			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1198G>A	20.37:g.50286631C>T	ENSP00000342481:p.Glu400Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49720038	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750807	0.89753	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.65178	-0.14;-0.14;-0.14	5.07	5.07	0.68467	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	N	0.26130	0.795	0.80722	D	1	D;P	0.65815	0.995;0.706	D;B	0.68192	0.956;0.229	T	0.72564	-0.4255	10	0.56958	D	0.05	-39.7782	18.7846	0.91949	0.0:1.0:0.0:0.0	.	279;400	O75110-2;O75110	.;ATP9A_HUMAN	K	264;400;279	ENSP00000309086:E264K;ENSP00000342481:E400K;ENSP00000385875:E279K	ENSP00000309086:E264K	E	-	1	0	ATP9A	49720038	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.239000	0.78182	2.503000	0.84419	0.561000	0.74099	GAG		0.453	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
TSHZ2	128553	broad.mit.edu	37	20	51871316	51871316	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:51871316C>A	ENST00000371497.5	+	2	2206	c.1319C>A	c.(1318-1320)tCt>tAt	p.S440Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S437Y|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S437Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	440					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S440Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AACAGTGATTCTCTGGCTCCC	0.483																																					p.S440Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1319A	20						.						103.0	108.0	106.0					20																	51871316		2203	4300	6503	51304723	SO:0001583	missense	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1319C>A	20.37:g.51871316C>A	ENSP00000360552:p.Ser440Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51304723	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.247029	0.10130	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15256	2.44;2.44	5.95	5.0	0.66597	.	0.486350	0.23107	N	0.051847	T	0.18718	0.0449	L	0.56769	1.78	0.09310	N	0.999997	B	0.33448	0.412	B	0.34722	0.188	T	0.18555	-1.0333	10	0.87932	D	0	-6.0538	8.8573	0.35236	0.0:0.6443:0.274:0.0817	.	440	Q9NRE2	TSH2_HUMAN	Y	440;437	ENSP00000360552:S440Y;ENSP00000333114:S437Y	ENSP00000333114:S437Y	S	+	2	0	TSHZ2	51304723	0.001000	0.12720	0.015000	0.15790	0.185000	0.23345	1.364000	0.34171	2.822000	0.97130	0.643000	0.83706	TCT		0.483	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
TSHZ2	128553	broad.mit.edu	37	20	51871553	51871553	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:51871553C>A	ENST00000371497.5	+	2	2443	c.1556C>A	c.(1555-1557)tCt>tAt	p.S519Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S516Y|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S516Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	519					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S519Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATTTTGAAATCTTTGGAAAAT	0.493																																					p.S519Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1556A	20						.						54.0	59.0	57.0					20																	51871553		2203	4300	6503	51304960	SO:0001583	missense	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1556C>A	20.37:g.51871553C>A	ENSP00000360552:p.Ser519Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	51304960	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032588	0.75504	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.49720	0.77;0.77	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73678	-0.3907	10	0.87932	D	0	-15.2559	20.3655	0.98876	0.0:1.0:0.0:0.0	.	519	Q9NRE2	TSH2_HUMAN	Y	519;516;45	ENSP00000360552:S519Y;ENSP00000333114:S516Y	ENSP00000333114:S516Y	S	+	2	0	TSHZ2	51304960	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	7.482000	0.81143	2.822000	0.97130	0.643000	0.83706	TCT		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
BCAS1	8537	broad.mit.edu	37	20	52675236	52675236	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:52675236G>T	ENST00000395961.3	-	2	188	c.22C>A	c.(22-24)Ccc>Acc	p.P8T	BCAS1_ENST00000371435.2_Missense_Mutation_p.P8T|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.P8T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	8						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P8T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACTCTTTGGGGAACACTCATT	0.398																																					p.P8T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22A	20						.						179.0	182.0	181.0					20																	52675236		2203	4300	6503	52108643	SO:0001583	missense	8537	exon2			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.22C>A	20.37:g.52675236G>T	ENSP00000379290:p.Pro8Thr	Somatic		Capture	Illumina HiSeq	Phase_I	52108643	NM_003657	A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307519	0.60305	.	.	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435	T;T;T	0.23552	1.93;1.91;1.9	5.18	4.15	0.48705	.	0.276731	0.26528	N	0.023878	T	0.42877	0.1222	L	0.59436	1.845	0.44085	D	0.996849	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66979	0.948;0.948;0.948	T	0.24693	-1.0153	10	0.87932	D	0	-3.8122	10.9831	0.47506	0.0:0.1884:0.8116:0.0	.	8;8;8	G3XAF7;A0AVG7;O75363	.;.;BCAS1_HUMAN	T	8	ENSP00000360495:P8T;ENSP00000379290:P8T;ENSP00000360490:P8T	ENSP00000360490:P8T	P	-	1	0	BCAS1	52108643	0.302000	0.24454	0.618000	0.29105	0.166000	0.22503	2.745000	0.47459	2.793000	0.96121	0.655000	0.94253	CCC		0.398	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	
CYP24A1	1591	broad.mit.edu	37	20	52779388	52779388	+	Silent	SNP	G	G	A	rs201825042		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:52779388G>A	ENST00000216862.3	-	7	1251	c.858C>T	c.(856-858)atC>atT	p.I286I	CYP24A1_ENST00000395955.3_Silent_p.I286I|CYP24A1_ENST00000395954.3_Silent_p.I144I	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	286					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.I286I(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACCGGTTGTCGATACAAGCTT	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19560	0.0		0.0	False		,,,				2504	0.0				p.I286I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C858T	20						.						76.0	71.0	73.0					20																	52779388		2203	4300	6503	52212795	SO:0001819	synonymous_variant	1591	exon7			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.858C>T	20.37:g.52779388G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52212795	NM_000782	Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	CCDS33491.1																																																																																				0.413	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2		
BMP7	655	broad.mit.edu	37	20	55803379	55803379	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:55803379C>T	ENST00000395863.3	-	2	1022	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	BMP7_ENST00000450594.2_Missense_Mutation_p.E173K|BMP7_ENST00000395864.3_Missense_Mutation_p.E173K	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	173					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.E173K(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ATCCGGAATTCGGCTGCCGTG	0.537																																					p.E173K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	20						.						143.0	141.0	142.0					20																	55803379		2203	4300	6503	55236786	SO:0001583	missense	655	exon2				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.517G>A	20.37:g.55803379C>T	ENSP00000379204:p.Glu173Lys	Somatic		Capture	Illumina HiSeq	Phase_I	55236786	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.420924|5.420924	0.96111|0.96111	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594|ENST00000433911	T;T;T|.	0.73258|.	-0.73;-0.73;-0.73|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82595|0.82595	0.5071|0.5071	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.997;1.0|.	D;P;D|.	0.87578|.	0.992;0.893;0.998|.	T|T	0.83182|0.83182	-0.0088|-0.0088	10|5	0.87932|.	D|.	0|.	.|.	19.6809|19.6809	0.95962|0.95962	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;173;173|.	B1AKZ9;P18075;B1AL00|.	.;BMP7_HUMAN;.|.	K|Q	173|58	ENSP00000379204:E173K;ENSP00000379205:E173K;ENSP00000398687:E173K|.	ENSP00000379204:E173K|.	E|R	-|-	1|2	0|0	BMP7|BMP7	55236786|55236786	1.000000|1.000000	0.71417|0.71417	0.508000|0.508000	0.27688|0.27688	0.771000|0.771000	0.43674|0.43674	7.311000|7.311000	0.78958|0.78958	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.537	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
BMP7	655	broad.mit.edu	37	20	55840788	55840788	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:55840788C>T	ENST00000395863.3	-	1	896	c.391G>A	c.(391-393)Gac>Aac	p.D131N	BMP7_ENST00000450594.2_Missense_Mutation_p.D131N|BMP7_ENST00000395864.3_Missense_Mutation_p.D131N|RP4-813D12.3_ENST00000412321.1_lincRNA	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	131					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.D131N(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ATGACCATGTCGGCGTCGGTG	0.642																																					p.D131N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G391A	20						.						28.0	23.0	25.0					20																	55840788		2202	4300	6502	55274195	SO:0001583	missense	655	exon1				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.391G>A	20.37:g.55840788C>T	ENSP00000379204:p.Asp131Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55274195	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.331920|5.331920	0.95733|0.95733	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594|ENST00000433911	T;T;T|.	0.61980|.	0.06;0.06;0.06|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Transforming growth factor-beta, N-terminal (1);|.	0.092759|.	0.64402|.	D|.	0.000001|.	T|T	0.74283|0.74283	0.3696|0.3696	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.995;0.998|.	D;P;D|.	0.97110|.	1.0;0.895;0.924|.	T|T	0.73770|0.73770	-0.3878|-0.3878	10|5	0.09338|.	T|.	0.73|.	.|.	18.385|18.385	0.90464|0.90464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	131;131;131|.	B1AKZ9;P18075;B1AL00|.	.;BMP7_HUMAN;.|.	N|Q	131|16	ENSP00000379204:D131N;ENSP00000379205:D131N;ENSP00000398687:D131N|.	ENSP00000379204:D131N|.	D|R	-|-	1|2	0|0	BMP7|BMP7	55274195|55274195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.703000|7.703000	0.84585|0.84585	2.311000|2.311000	0.77944|0.77944	0.491000|0.491000	0.48974|0.48974	GAC|CGA		0.642	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
SPO11	23626	broad.mit.edu	37	20	55909835	55909835	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:55909835C>T	ENST00000371263.3	+	6	649	c.540C>T	c.(538-540)ggC>ggT	p.G180G	SPO11_ENST00000345868.4_Silent_p.G142G|SPO11_ENST00000371260.4_Silent_p.G142G	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	180					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.G180G(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TAATTGCTGGCAACTTAAGAT	0.358								Editing and processing nucleases																													p.G180G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C540T	20						.						109.0	106.0	107.0					20																	55909835		2203	4300	6503	55343242	SO:0001819	synonymous_variant	23626	exon6			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.540C>T	20.37:g.55909835C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55343242	NM_012444	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	CCDS13456.1																																																																																				0.358	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444	
CTCFL	140690	broad.mit.edu	37	20	56089711	56089711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:56089711C>T	ENST00000608263.1	-	6	1928	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CTCFL_ENST00000608425.1_Missense_Mutation_p.E423K|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.E423K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E423K|CTCFL_ENST00000539382.1_Missense_Mutation_p.E218K|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000433949.3_Missense_Mutation_p.E218K|CTCFL_ENST00000609232.1_Missense_Mutation_p.E423K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E423K|CTCFL_ENST00000423479.3_Missense_Mutation_p.E423K|CTCFL_ENST00000608903.1_Missense_Mutation_p.E161K|CTCFL_ENST00000502686.2_Missense_Mutation_p.E161K|CTCFL_ENST00000608440.1_Missense_Mutation_p.E423K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	423					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.E423K(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGGACATTTTCGCCGTGTTTC	0.488											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E423K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1267A	20						.						250.0	230.0	237.0					20																	56089711		2203	4300	6503	55523117	SO:0001583	missense	140690	exon7				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1267G>A	20.37:g.56089711C>T	ENSP00000476783:p.Glu423Lys	Somatic	1012	Capture	Illumina HiSeq	Phase_I	55523117	NM_080618	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698387	0.48307	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000433949;ENST00000502686;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T	0.63913	2.74;2.77;2.77;2.79;2.86;-0.07;2.85;2.79	5.14	4.2	0.49525	Zinc finger, C2H2 (1);	0.150630	0.30464	N	0.009576	T	0.57695	0.2071	L	0.37897	1.145	0.38008	D	0.934456	P;P;P;P;P	0.51653	0.898;0.911;0.947;0.911;0.783	B;B;P;B;B	0.48795	0.356;0.138;0.59;0.138;0.084	T	0.65311	-0.6199	10	0.87932	D	0	-29.0499	10.1308	0.42678	0.0:0.8353:0.0:0.1647	.	423;423;423;423;423	A6XGM9;A6XGM2;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	K	423;423;423;423;161;423;218;423	ENSP00000415579:E423K;ENSP00000243914:E423K;ENSP00000360239:E423K;ENSP00000392034:E423K;ENSP00000437999:E161K;ENSP00000403369:E423K;ENSP00000439998:E218K;ENSP00000399061:E423K	ENSP00000243914:E423K	E	-	1	0	CTCFL	55523117	0.992000	0.36948	1.000000	0.80357	0.037000	0.13140	2.083000	0.41615	1.296000	0.44742	0.655000	0.94253	GAA		0.488	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
PHACTR3	116154	broad.mit.edu	37	20	58349409	58349409	+	Silent	SNP	C	C	T	rs367678189		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:58349409C>T	ENST00000371015.1	+	7	1505	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	PHACTR3_ENST00000359926.3_Silent_p.D343D|PHACTR3_ENST00000541461.1_Silent_p.D305D|PHACTR3_ENST00000395639.4_Silent_p.D235D|PHACTR3_ENST00000361300.4_Silent_p.D235D|PHACTR3_ENST00000355648.4_Silent_p.D305D|PHACTR3_ENST00000395636.2_Silent_p.D305D	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	346						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.D346D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGAGCTTTGACGGGGCATTGG	0.517																																					p.D346D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1038T	20						.	C	,,,,	0,4406		0,0,2203	115.0	112.0	113.0		1029,915,1038,915,705	-4.9	0.1	20		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	343/557,305/519,346/560,305/519,235/449	58349409	1,13005	2203	4300	6503	57782804	SO:0001819	synonymous_variant	116154	exon7			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1038C>T	20.37:g.58349409C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57782804	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.517	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
PHACTR3	116154	broad.mit.edu	37	20	58416532	58416532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:58416532C>T	ENST00000371015.1	+	11	1996	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PHACTR3_ENST00000359926.3_Missense_Mutation_p.A507V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A469V|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A399V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A399V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A469V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A469V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	510	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A510V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GTAGCAAAAGCGCAGGACTAT	0.443																																					p.A510V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1529T	20						.						96.0	86.0	90.0					20																	58416532		2203	4300	6503	57849927	SO:0001583	missense	116154	exon11			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1529C>T	20.37:g.58416532C>T	ENSP00000360054:p.Ala510Val	Somatic		Capture	Illumina HiSeq	Phase_I	57849927	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204250	0.95033	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.37411	1.53;1.52;1.2;1.55;1.55;1.55;1.2	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.974;0.998	D;D;P;P	0.87578	0.998;0.997;0.488;0.849	T	0.55055	-0.8200	10	0.62326	D	0.03	-14.5181	17.8285	0.88673	0.0:1.0:0.0:0.0	.	469;399;510;507	B1AN68;Q96KR7-3;Q96KR7;B1AKX0	.;.;PHAR3_HUMAN;.	V	507;510;399;469;469;469;399	ENSP00000353002:A507V;ENSP00000360054:A510V;ENSP00000379001:A399V;ENSP00000442483:A469V;ENSP00000347866:A469V;ENSP00000378998:A469V;ENSP00000354555:A399V	ENSP00000347866:A469V	A	+	2	0	PHACTR3	57849927	1.000000	0.71417	0.684000	0.30055	0.983000	0.72400	7.710000	0.84655	2.513000	0.84729	0.655000	0.94253	GCG		0.443	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
SYCP2	10388	broad.mit.edu	37	20	58470594	58470594	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:58470594C>A	ENST00000357552.3	-	20	1788	c.1563G>T	c.(1561-1563)gaG>gaT	p.E521D	SYCP2_ENST00000371001.2_Missense_Mutation_p.E521D			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	521					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.E521D(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CACTAGGTTTCTCTGCAGAGC	0.373																																					p.E521D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1563T	20						.						205.0	196.0	199.0					20																	58470594		2203	4300	6503	57903989	SO:0001583	missense	10388	exon19			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1563G>T	20.37:g.58470594C>A	ENSP00000350162:p.Glu521Asp	Somatic		Capture	Illumina HiSeq	Phase_I	57903989	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	9.636	1.137711	0.21123	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.29397	1.77;1.77;1.57	4.68	1.03	0.20045	.	0.175737	0.39909	N	0.001236	T	0.27663	0.0680	M	0.68952	2.095	0.23016	N	0.998429	B	0.27910	0.193	B	0.31337	0.128	T	0.29088	-1.0023	10	0.72032	D	0.01	-7.6512	3.4846	0.07615	0.0:0.2286:0.2006:0.5708	.	521	Q9BX26	SYCP2_HUMAN	D	521	ENSP00000360040:E521D;ENSP00000350162:E521D;ENSP00000402456:E521D	ENSP00000350162:E521D	E	-	3	2	SYCP2	57903989	0.098000	0.21812	0.376000	0.26042	0.110000	0.19582	-0.203000	0.09438	0.056000	0.16144	-0.482000	0.04802	GAG		0.373	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
SYCP2	10388	broad.mit.edu	37	20	58475832	58475832	+	Silent	SNP	C	C	T	rs371269578		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:58475832C>T	ENST00000357552.3	-	17	1449	c.1224G>A	c.(1222-1224)tcG>tcA	p.S408S	SYCP2_ENST00000371001.2_Silent_p.S408S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	408					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.S408S(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTATATGCAGCGACGTTTTGG	0.333																																					p.S408S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1224A	20						.	C		0,4404		0,0,2202	118.0	104.0	109.0		1224	-10.3	0.9	20		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYCP2	NM_014258.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		408/1531	58475832	1,13003	2202	4300	6502	57909227	SO:0001819	synonymous_variant	10388	exon16			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1224G>A	20.37:g.58475832C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57909227	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																				0.333	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
CDH26	60437	broad.mit.edu	37	20	58571707	58571707	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:58571707G>A	ENST00000244047.5	+	13	2221	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.R637Q|CDH26_ENST00000244049.3_Intron|CDH26_ENST00000350849.6_Intron			Q8IXH8	CAD26_HUMAN	cadherin 26	637					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R637Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTTCTGTTGCGATGCTATTTT	0.433																																					p.R637Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1910A	20						.						305.0	271.0	283.0					20																	58571707		2203	4300	6503	58005102	SO:0001583	missense	60437	exon13			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1910G>A	20.37:g.58571707G>A	ENSP00000244047:p.Arg637Gln	Somatic		Capture	Illumina HiSeq	Phase_I	58005102	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.960333|1.960333	0.34565|0.34565	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.59364	.|0.27;0.39	4.28|4.28	3.32|3.32	0.38043|0.38043	.|.	.|0.488841	.|0.18166	.|N	.|0.149613	T|T	0.47801|0.47801	0.1465|0.1465	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40000	.|0.513;0.698	.|B;B	.|0.26202	.|0.012;0.067	T|T	0.48364|0.48364	-0.9042|-0.9042	5|10	.|0.66056	.|D	.|0.02	.|.	9.462|9.462	0.38789|0.38789	0.1045:0.0:0.8955:0.0|0.1045:0.0:0.8955:0.0	.|.	.|637;637	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	N|Q	229|637	.|ENSP00000244047:R637Q;ENSP00000339390:R637Q	.|ENSP00000244047:R637Q	D|R	+|+	1|2	0|0	CDH26|CDH26	58005102|58005102	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.006000|0.006000	0.05464|0.05464	0.344000|0.344000	0.19962|0.19962	0.906000|0.906000	0.36621|0.36621	0.561000|0.561000	0.74099|0.74099	GAT|CGA		0.433	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
FERMT1	55612	broad.mit.edu	37	20	6069618	6069618	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:6069618G>T	ENST00000217289.4	-	10	2046	c.1258C>A	c.(1258-1260)Ctt>Att	p.L420I	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.L163I	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	420	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.L420I(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTACCTCTAAGATTTAGTTTT	0.408																																					p.L420I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1258A	20						.						186.0	194.0	192.0					20																	6069618		2203	4300	6503	6017618	SO:0001583	missense	55612	exon10			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1258C>A	20.37:g.6069618G>T	ENSP00000217289:p.Leu420Ile	Somatic		Capture	Illumina HiSeq	Phase_I	6017618	NM_017671	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	g	16.58	3.161640	0.57368	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	D;D	0.98120	-4.73;-4.73	5.64	4.68	0.58851	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.056290	0.64402	N	0.000001	D	0.96978	0.9013	M	0.72624	2.21	0.80722	D	1	P;B	0.36944	0.574;0.013	B;B	0.43508	0.422;0.287	D	0.96249	0.9182	10	0.54805	T	0.06	3.3697	10.4265	0.44380	0.0697:0.0:0.7951:0.1351	.	420;420	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	I	420;163;420	ENSP00000217289:L420I;ENSP00000441063:L163I	ENSP00000217289:L420I	L	-	1	0	FERMT1	6017618	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.778000	0.62368	1.370000	0.46153	0.550000	0.68814	CTT		0.408	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	
TAF4	6874	broad.mit.edu	37	20	60575614	60575614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:60575614C>A	ENST00000252996.4	-	10	2649	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	884					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E884*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTACCTATTTCTAATATTCTT	0.478																																					p.E884X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2650T	20						.						109.0	107.0	108.0					20																	60575614		2203	4300	6503	60009009	SO:0001587	stop_gained	6874	exon10			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2650G>T	20.37:g.60575614C>A	ENSP00000252996:p.Glu884*	Somatic		Capture	Illumina HiSeq	Phase_I	60009009	NM_003185	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Nonsense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	37	6.623011	0.97714	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-16.8156	18.6445	0.91406	0.0:1.0:0.0:0.0	.	.	.	.	X	884;748	.	ENSP00000252996:E884X	E	-	1	0	TAF4	60009009	1.000000	0.71417	0.945000	0.38365	0.599000	0.36880	5.723000	0.68492	2.399000	0.81585	0.561000	0.74099	GAA		0.478	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
EEF1A2	1917	broad.mit.edu	37	20	62127244	62127244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:62127244C>T	ENST00000298049.7	-	2	359	c.289G>A	c.(289-291)Gac>Aac	p.D97N	EEF1A2_ENST00000217182.3_Missense_Mutation_p.D97N			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	97	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.D97N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGATGAAGTCGCGGTGGCCG	0.622											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D97N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289A	20						.						214.0	179.0	191.0					20																	62127244		2201	4299	6500	61597688	SO:0001583	missense	1917	exon3			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.289G>A	20.37:g.62127244C>T	ENSP00000298049:p.Asp97Asn	Somatic	1058	Capture	Illumina HiSeq	Phase_I	61597688	NM_001958	B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882658	0.91740	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.54479	0.57;0.57	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	M	0.82630	2.6	0.80722	D	1	D;P	0.76494	0.999;0.921	D;P	0.81914	0.995;0.732	T	0.80574	-0.1322	10	0.87932	D	0	3.3049	16.4593	0.84031	0.0:1.0:0.0:0.0	.	73;97	Q59GP5;Q05639	.;EF1A2_HUMAN	N	97	ENSP00000298049:D97N;ENSP00000217182:D97N	ENSP00000217182:D97N	D	-	1	0	EEF1A2	61597688	1.000000	0.71417	0.929000	0.37066	0.685000	0.39939	7.663000	0.83820	1.954000	0.56735	0.313000	0.20887	GAC		0.622	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958	
ZNF512B	57473	broad.mit.edu	37	20	62597770	62597770	+	Missense_Mutation	SNP	G	G	A	rs143233617		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:62597770G>A	ENST00000450537.1	-	5	818	c.758C>T	c.(757-759)cCg>cTg	p.P253L	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P253L|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P253L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	253					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.P253L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTTGGTGACCGGCATGGCCTT	0.567																																					p.P253L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C758T	20						.	G	LEU/PRO	0,4406		0,0,2203	372.0	384.0	380.0		758	3.7	0.1	20	dbSNP_134	380	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF512B	NM_020713.1	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	253/893	62597770	2,13004	2203	4300	6503	62068214	SO:0001583	missense	57473	exon5			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.758C>T	20.37:g.62597770G>A	ENSP00000393795:p.Pro253Leu	Somatic		Capture	Illumina HiSeq	Phase_I	62068214	NM_020713	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015322	0.35511	0.0	2.33E-4	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.7	3.73	0.42828	.	0.000000	0.35349	U	0.003267	T	0.19287	0.0463	L	0.42245	1.32	0.37674	D	0.923222	P	0.40083	0.702	B	0.30495	0.116	T	0.14364	-1.0475	10	0.52906	T	0.07	-3.7965	12.4707	0.55785	0.0:0.1703:0.8297:0.0	.	253	Q96KM6	Z512B_HUMAN	L	253	ENSP00000358904:P253L;ENSP00000393795:P253L;ENSP00000217130:P253L	ENSP00000217130:P253L	P	-	2	0	ZNF512B	62068214	0.007000	0.16637	0.081000	0.20488	0.038000	0.13279	1.329000	0.33770	1.156000	0.42514	0.650000	0.86243	CCG		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
OPRL1	4987	broad.mit.edu	37	20	62724277	62724277	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:62724277G>T	ENST00000349451.3	+	4	616	c.204G>T	c.(202-204)ggG>ggT	p.G68G	OPRL1_ENST00000336866.2_Silent_p.G68G|OPRL1_ENST00000355631.4_Silent_p.G68G	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	68					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.G68G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGCTCCTGGGGAACTGCCTTG	0.637																																					p.G68G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204T	20						.						80.0	70.0	73.0					20																	62724277		2199	4291	6490	62194721	SO:0001819	synonymous_variant	4987	exon3				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.204G>T	20.37:g.62724277G>T		Somatic		Capture	Illumina HiSeq	Phase_I	62194721	NM_182647	Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1																																																																																				0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
RSPO4	343637	broad.mit.edu	37	20	948663	948663	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:948663G>A	ENST00000217260.4	-	2	294	c.198C>T	c.(196-198)taC>taT	p.Y66Y	RSPO4_ENST00000400634.2_Silent_p.Y66Y	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	66					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)	p.Y66Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCACTTGCCGTACTGGCGGA	0.592																																					p.Y66Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	20						.						74.0	76.0	76.0					20																	948663		2015	4169	6184	896663	SO:0001819	synonymous_variant	343637	exon2			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.198C>T	20.37:g.948663G>A		Somatic		Capture	Illumina HiSeq	Phase_I	896663	NM_001029871	A2A2I6|Q9UGB2	Silent	SNP	ENST00000217260.4	37	CCDS42846.1																																																																																				0.592	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816	
HAO1	54363	broad.mit.edu	37	20	7894842	7894842	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:7894842G>A	ENST00000378789.3	-	3	565	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	172	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R172C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AATCTGTTACGCACATCATCC	0.532																																					p.R172C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C514T	20						.						188.0	131.0	151.0					20																	7894842		2203	4300	6503	7842842	SO:0001583	missense	54363	exon3			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.514C>T	20.37:g.7894842G>A	ENSP00000368066:p.Arg172Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7842842	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480420	0.84747	.	.	ENSG00000101323	ENST00000378789	T	0.38401	1.14	6.16	5.21	0.72293	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.044141	0.85682	D	0.000000	T	0.73528	0.3598	H	0.98068	4.14	0.80722	D	1	D;D	0.53619	0.961;0.961	D;D	0.63033	0.91;0.91	D	0.85025	0.0914	10	0.87932	D	0	-3.4352	16.9264	0.86177	0.0:0.0:0.8709:0.1291	.	172;172	A8K058;Q9UJM8	.;HAOX1_HUMAN	C	172	ENSP00000368066:R172C	ENSP00000368066:R172C	R	-	1	0	HAO1	7842842	1.000000	0.71417	0.988000	0.46212	0.776000	0.43924	7.587000	0.82613	1.597000	0.50072	0.650000	0.86243	CGT		0.532	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
PLCB1	23236	broad.mit.edu	37	20	8630046	8630046	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:8630046C>T	ENST00000338037.6	+	7	571	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	PLCB1_ENST00000378641.3_Missense_Mutation_p.R182W|PLCB1_ENST00000378637.2_Missense_Mutation_p.R182W	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	182					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R182W(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCAGCAGATCGGAAGCGAGT	0.433																																					p.R182W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544T	20						.						188.0	167.0	174.0					20																	8630046		2203	4300	6503	8578046	SO:0001583	missense	23236	exon7			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.544C>T	20.37:g.8630046C>T	ENSP00000338185:p.Arg182Trp	Somatic		Capture	Illumina HiSeq	Phase_I	8578046	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353082	0.82132	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.96	5.96	0.96718	.	0.841047	0.10782	N	0.634815	T	0.70798	0.3265	M	0.76838	2.35	0.53688	D	0.999972	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;P;D;D	0.74674	0.945;0.859;0.971;0.984	T	0.67593	-0.5631	10	0.87932	D	0	.	14.2382	0.65941	0.2474:0.7526:0.0:0.0	.	81;182;182;181	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	W	182;182;182;181;102;102	ENSP00000367908:R182W;ENSP00000338185:R182W;ENSP00000367904:R182W;ENSP00000384001:R181W	ENSP00000338185:R182W	R	+	1	2	PLCB1	8578046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.686000	0.46968	2.826000	0.97356	0.655000	0.94253	CGG		0.433	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:9391729C>T	ENST00000378493.1	+	21	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_ENST00000334005.3_Missense_Mutation_p.S670L|PLCB4_ENST00000278655.4_Missense_Mutation_p.S670L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S682L|PLCB4_ENST00000378473.3_Missense_Mutation_p.S682L|PLCB4_ENST00000378501.2_Missense_Mutation_p.S670L|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	670	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S670L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363																																					p.S670L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2009T	20						.						106.0	105.0	106.0					20																	9391729		2203	4300	6503	9339729	SO:0001583	missense	5332	exon21				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2009C>T	20.37:g.9391729C>T	ENSP00000367754:p.Ser670Leu	Somatic		Capture	Illumina HiSeq	Phase_I	9339729	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585454	0.66105	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.53	5.53	0.82687	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.063252	0.64402	D	0.000003	T	0.52191	0.1719	L	0.42487	1.325	0.80722	D	1	P;P;P;D	0.56035	0.851;0.477;0.955;0.974	B;B;P;B	0.44772	0.326;0.119;0.46;0.424	T	0.51911	-0.8645	10	0.42905	T	0.14	.	19.8184	0.96581	0.0:1.0:0.0:0.0	.	682;517;670;670	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	670;682;670;670;670;518	ENSP00000334105:S670L;ENSP00000367734:S682L;ENSP00000278655:S670L;ENSP00000367754:S670L;ENSP00000367762:S670L;ENSP00000390616:S518L	ENSP00000278655:S670L	S	+	2	0	PLCB4	9339729	0.998000	0.40836	0.965000	0.40720	0.920000	0.55202	3.871000	0.56077	2.761000	0.94854	0.650000	0.86243	TCG		0.363	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
MYT1	4661	broad.mit.edu	37	20	62853396	62853396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr20:62853396C>T	ENST00000328439.1	+	14	2756	c.2392C>T	c.(2392-2394)Ctc>Ttc	p.L798F	MYT1_ENST00000536311.1_Missense_Mutation_p.L825F|MYT1_ENST00000360149.4_Missense_Mutation_p.L500F	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L798F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAAGGAGCTGCTCACGTAAGT	0.562																																					p.L798F	GBM(59;481 1041 20555 21139 33705)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2392T	20						.						72.0	70.0	71.0					20																	62853396		2203	4300	6503	62323840	SO:0001583	missense	4661	exon14			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2392C>T	20.37:g.62853396C>T	ENSP00000327465:p.Leu798Phe	Somatic		Capture	Illumina HiSeq	Phase_I	62323840	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400271	0.62177	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.73047	0.69;-0.71;0.78	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	L	0.61387	1.9	0.54753	D	0.999981	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.992;0.999	D	0.83503	0.0076	10	0.54805	T	0.06	-19.2609	19.0776	0.93169	0.0:1.0:0.0:0.0	.	825;798;500	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	F	500;798;825	ENSP00000353269:L500F;ENSP00000327465:L798F;ENSP00000442412:L825F	ENSP00000327465:L798F	L	+	1	0	MYT1	62323840	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.639000	0.67868	2.512000	0.84698	0.655000	0.94253	CTC		0.562	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
LIPI	149998	broad.mit.edu	37	21	15561394	15561394	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:15561394T>G	ENST00000536861.1	-	2	392	c.393A>C	c.(391-393)aaA>aaC	p.K131N	LIPI_ENST00000344577.2_Missense_Mutation_p.K152N			Q6XZB0	LIPI_HUMAN	lipase, member I	131					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.K152N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCACAGCAACTTTTCTGGTGT	0.323																																					p.K152N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A456C	21						.						40.0	43.0	42.0					21																	15561394		2203	4300	6503	14483265	SO:0001583	missense	149998	exon2			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.393A>C	21.37:g.15561394T>G	ENSP00000440381:p.Lys131Asn	Somatic		Capture	Illumina HiSeq	Phase_I	14483265	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.38|12.38	1.921974|1.921974	0.33908|0.33908	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.91011|.	-2.77;-2.77|.	5.29|5.29	2.76|2.76	0.32466|0.32466	.|.	0.186705|.	0.56097|.	D|.	0.000038|.	T|T	0.44726|0.44726	0.1307|0.1307	M|M	0.63843|0.63843	1.955|1.955	0.22511|0.22511	N|N	0.999034|0.999034	B;B|.	0.30104|.	0.268;0.138|.	B;B|.	0.37888|.	0.26;0.124|.	T|T	0.31696|0.31696	-0.9934|-0.9934	10|5	0.29301|.	T|.	0.29|.	.|.	6.8523|6.8523	0.24022|0.24022	0.1342:0.0746:0.0:0.7912|0.1342:0.0746:0.0:0.7912	.|.	131;152|.	G1JSG6;Q6XZB0-2|.	.;.|.	N|R	152;131;26|11	ENSP00000343331:K152N;ENSP00000440381:K131N|.	ENSP00000343331:K152N|.	K|S	-|-	3|1	2|0	LIPI|LIPI	14483265|14483265	0.966000|0.966000	0.33281|0.33281	0.992000|0.992000	0.48379|0.48379	0.886000|0.886000	0.51366|0.51366	0.608000|0.608000	0.24223|0.24223	0.967000|0.967000	0.38186|0.38186	-0.256000|-0.256000	0.11100|0.11100	AAA|AGT		0.323	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
LIPI	149998	broad.mit.edu	37	21	15561697	15561697	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:15561697C>A	ENST00000536861.1	-	2	89	c.90G>T	c.(88-90)aaG>aaT	p.K30N	LIPI_ENST00000344577.2_Missense_Mutation_p.K51N			Q6XZB0	LIPI_HUMAN	lipase, member I	30					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.K51N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAAGGAATCCTTTACACTTA	0.353																																					p.K51N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G153T	21						.						85.0	89.0	88.0					21																	15561697		2203	4299	6502	14483568	SO:0001583	missense	149998	exon2			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.90G>T	21.37:g.15561697C>A	ENSP00000440381:p.Lys30Asn	Somatic		Capture	Illumina HiSeq	Phase_I	14483568	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	De_novo_Start_OutOfFrame	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	C	14.17	2.454875	0.43634	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.91068	-2.78;-2.78	5.3	2.02	0.26589	.	2.277640	0.01626	N	0.023285	D	0.87585	0.6214	L	0.54323	1.7	0.09310	N	0.999998	P	0.35944	0.529	B	0.36922	0.236	T	0.72037	-0.4411	10	0.16420	T	0.52	.	4.9084	0.13809	0.0:0.3975:0.2912:0.3113	.	51	Q6XZB0-2	.	N	51;30	ENSP00000343331:K51N;ENSP00000440381:K30N	ENSP00000343331:K51N	K	-	3	2	LIPI	14483568	0.000000	0.05858	0.997000	0.53966	0.820000	0.46376	0.095000	0.15127	0.742000	0.32697	0.655000	0.94253	AAG		0.353	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
USP25	29761	broad.mit.edu	37	21	17196441	17196441	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:17196441A>C	ENST00000285679.6	+	11	1533	c.1164A>C	c.(1162-1164)aaA>aaC	p.K388N	USP25_ENST00000400183.2_Missense_Mutation_p.K388N|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.K388N	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	388	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.K388N(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GACCAGAAAAAATTCACAACA	0.318																																					p.K388N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1164C	21						.						74.0	74.0	74.0					21																	17196441		2202	4300	6502	16118312	SO:0001583	missense	29761	exon11			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1164A>C	21.37:g.17196441A>C	ENSP00000285679:p.Lys388Asn	Somatic		Capture	Illumina HiSeq	Phase_I	16118312	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715745	0.68844	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	D;D;D	0.92199	-2.99;-2.99;-2.99	4.67	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	H	0.94658	3.565	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.997	D	0.95211	0.8325	10	0.87932	D	0	.	7.7131	0.28690	0.7504:0.0:0.2496:0.0	.	388;388;388	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	N	388	ENSP00000285681:K388N;ENSP00000285679:K388N;ENSP00000383044:K388N	ENSP00000285679:K388N	K	+	3	2	USP25	16118312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.969000	0.63735	0.908000	0.36671	0.528000	0.53228	AAA		0.318	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
CHODL	140578	broad.mit.edu	37	21	19632580	19632580	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:19632580A>C	ENST00000299295.2	+	4	1002	c.611A>C	c.(610-612)cAg>cCg	p.Q204P	CHODL_ENST00000543733.1_Missense_Mutation_p.Q185P|CHODL_ENST00000400131.1_Missense_Mutation_p.Q163P|CHODL_ENST00000400135.1_Missense_Mutation_p.Q163P|CHODL_ENST00000338326.3_Missense_Mutation_p.Q163P|CHODL_ENST00000400127.1_Missense_Mutation_p.Q163P|CHODL_ENST00000400128.1_Missense_Mutation_p.Q163P	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	204					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.Q204P(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GACACCCATCAGAATGTGGTT	0.378																																					p.Q204P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A611C	21						.						106.0	105.0	105.0					21																	19632580		2203	4300	6503	18554451	SO:0001583	missense	140578	exon4			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.611A>C	21.37:g.19632580A>C	ENSP00000299295:p.Gln204Pro	Somatic		Capture	Illumina HiSeq	Phase_I	18554451	NM_024944	B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.482817	0.26598	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19105	2.26;2.17;2.17;2.26;2.26;2.17;2.26	5.41	4.27	0.50696	.	0.789138	0.12245	N	0.486105	T	0.11665	0.0284	N	0.22421	0.69	0.09310	N	1	B;B;P	0.38420	0.021;0.072;0.63	B;B;B	0.31495	0.036;0.02;0.131	T	0.16394	-1.0404	9	.	.	.	-1.8432	6.4976	0.22150	0.7629:0.1566:0.0805:0.0	.	204;185;163	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	P	163;163;163;163;204;163;185	ENSP00000382993:Q163P;ENSP00000382996:Q163P;ENSP00000383001:Q163P;ENSP00000382992:Q163P;ENSP00000299295:Q204P;ENSP00000339975:Q163P;ENSP00000443566:Q185P	.	Q	+	2	0	CHODL	18554451	1.000000	0.71417	0.899000	0.35326	0.987000	0.75469	3.443000	0.52907	1.009000	0.39289	0.528000	0.53228	CAG		0.378	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944	
NCAM2	4685	broad.mit.edu	37	21	22881354	22881354	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:22881354G>A	ENST00000400546.1	+	16	2509	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E612K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	754					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E754K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAAAGAACTCGAAGAAGGAAA	0.463																																					p.E754K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2260A	21						.						91.0	87.0	88.0					21																	22881354		1945	4147	6092	21803225	SO:0001583	missense	4685	exon16				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2260G>A	21.37:g.22881354G>A	ENSP00000383392:p.Glu754Lys	Somatic		Capture	Illumina HiSeq	Phase_I	21803225	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395824	0.83011	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.66099	-0.19;-0.1	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.77313	2.365	0.80722	D	1	D;D	0.58268	0.982;0.982	B;B	0.38225	0.268;0.268	T	0.67522	-0.5649	10	0.33141	T	0.24	-30.3509	18.0636	0.89384	0.0:0.0:1.0:0.0	.	612;754	B7Z5K2;O15394	.;NCAM2_HUMAN	K	754;612	ENSP00000383392:E754K;ENSP00000284894:E612K	ENSP00000284894:E612K	E	+	1	0	NCAM2	21803225	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	9.383000	0.97214	2.684000	0.91462	0.637000	0.83480	GAA		0.463	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
MRPL39	54148	broad.mit.edu	37	21	26972152	26972152	+	Missense_Mutation	SNP	C	C	T	rs572415920	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:26972152C>T	ENST00000352957.4	-	5	588	c.547G>A	c.(547-549)Gta>Ata	p.V183I	MRPL39_ENST00000307301.7_Missense_Mutation_p.V183I	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	183						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V183I(2)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TCCAAAACTACGTCATAACAG	0.348													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.0				p.V183I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G547A	21						.						104.0	101.0	102.0					21																	26972152		2203	4300	6503	25894023	SO:0001583	missense	54148	exon5			AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.547G>A	21.37:g.26972152C>T	ENSP00000284967:p.Val183Ile	Somatic		Capture	Illumina HiSeq	Phase_I	25894023	NM_017446	C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791930	0.31685	.	.	ENSG00000154719	ENST00000352957;ENST00000307301	T;T	0.42131	0.98;0.99	5.32	4.43	0.53597	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.061598	0.64402	D	0.000004	T	0.25606	0.0623	L	0.33753	1.03	0.44110	D	0.996881	P;B	0.40107	0.703;0.318	B;B	0.29785	0.107;0.08	T	0.05386	-1.0888	10	0.15066	T	0.55	-18.4045	12.1619	0.54109	0.0:0.92:0.0:0.08	.	183;183	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	I	183	ENSP00000284967:V183I;ENSP00000305682:V183I	ENSP00000305682:V183I	V	-	1	0	MRPL39	25894023	0.940000	0.31905	0.491000	0.27477	0.918000	0.54935	0.187000	0.16998	1.476000	0.48215	0.591000	0.81541	GTA		0.348	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446	
ADAMTS5	11096	broad.mit.edu	37	21	28307004	28307004	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:28307004G>T	ENST00000284987.5	-	4	1591	c.1470C>A	c.(1468-1470)acC>acA	p.T490T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	490	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T490T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCATCGTAGGTCTGTCCTG	0.567																																					p.T490T	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470A	21						.						102.0	84.0	90.0					21																	28307004		2203	4300	6503	27228875	SO:0001819	synonymous_variant	11096	exon4			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1470C>A	21.37:g.28307004G>T		Somatic		Capture	Illumina HiSeq	Phase_I	27228875	NM_007038	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.567	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
RWDD2B	10069	broad.mit.edu	37	21	30378937	30378937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:30378937C>T	ENST00000493196.1	-	5	861	c.761G>A	c.(760-762)cGc>cAc	p.R254H	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	254								p.R254H(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTCTCGATGGCGAATTAAAAT	0.308																																					p.R254H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G761A	21						.						65.0	60.0	62.0					21																	30378937		2203	4300	6503	29300808	SO:0001583	missense	10069	exon5			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.761G>A	21.37:g.30378937C>T	ENSP00000418693:p.Arg254His	Somatic		Capture	Illumina HiSeq	Phase_I	29300808	NM_016940		Missense_Mutation	SNP	ENST00000493196.1	37	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823178	0.71143	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.45	3.61	0.41365	Domain of unknown function DUF1115 (1);	0.162838	0.56097	D	0.000026	T	0.80082	0.4558	M	0.89840	3.065	0.45194	D	0.998203	D;B	0.89917	1.0;0.445	D;B	0.81914	0.995;0.077	T	0.80079	-0.1532	9	0.40728	T	0.16	-15.0736	10.6268	0.45512	0.1323:0.7992:0.0:0.0685	.	254;254	Q53FD2;P57060	.;RWD2B_HUMAN	H	254	.	ENSP00000418693:R254H	R	-	2	0	RWDD2B	29300808	1.000000	0.71417	0.904000	0.35570	0.567000	0.35839	7.264000	0.78432	0.825000	0.34637	0.650000	0.86243	CGC		0.308	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
BACH1	571	broad.mit.edu	37	21	30698939	30698939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:30698939G>A	ENST00000399921.1	+	3	1037	c.794G>A	c.(793-795)gGa>gAa	p.G265E	BACH1_ENST00000286800.3_Missense_Mutation_p.G265E	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G265E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAATGCCTGGGAGGAGTCCCG	0.428																																					p.G265E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	21						.						47.0	49.0	48.0					21																	30698939		2203	4300	6503	29620810	SO:0001583	missense	571	exon3			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.794G>A	21.37:g.30698939G>A	ENSP00000382805:p.Gly265Glu	Somatic		Capture	Illumina HiSeq	Phase_I	29620810	NM_206866	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138029	0.01742	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.70399	-0.48;-0.48	5.35	4.44	0.53790	.	0.478058	0.20987	N	0.082102	T	0.47451	0.1446	L	0.27053	0.805	0.09310	N	1	B	0.31680	0.335	B	0.25140	0.058	T	0.40979	-0.9534	10	0.02654	T	1	-11.1179	7.7492	0.28888	0.1067:0.4564:0.437:0.0	.	265	O14867	BACH1_HUMAN	E	265	ENSP00000286800:G265E;ENSP00000382805:G265E	ENSP00000286800:G265E	G	+	2	0	BACH1	29620810	0.526000	0.26298	0.008000	0.14137	0.027000	0.11550	1.263000	0.33004	1.587000	0.49959	0.655000	0.94253	GGA		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
GRIK1	2897	broad.mit.edu	37	21	30927523	30927523	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:30927523G>A	ENST00000399907.1	-	16	2868	c.2457C>T	c.(2455-2457)tgC>tgT	p.C819C	GRIK1_ENST00000309434.7_Silent_p.C821C|GRIK1_ENST00000399909.1_Silent_p.C804C|GRIK1_ENST00000389124.2_Silent_p.C819C|GRIK1_ENST00000327783.4_Silent_p.C819C|GRIK1_ENST00000399913.1_Silent_p.C819C|GRIK1_ENST00000399914.1_Silent_p.C804C|GRIK1_ENST00000389125.3_Silent_p.C804C|GRIK1_ENST00000535441.1_Silent_p.C821C	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	819					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.C804C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTTCCTCGGGGCAGCCATTCC	0.473																																					p.C804C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2412T	21						.						97.0	99.0	99.0					21																	30927523		2203	4300	6503	29849394	SO:0001819	synonymous_variant	2897	exon15				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2457C>T	21.37:g.30927523G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29849394	NM_175611	Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	CCDS42913.1																																																																																				0.473	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
KRTAP13-1	140258	broad.mit.edu	37	21	31768715	31768715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:31768715C>T	ENST00000355459.2	+	1	324	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	104						intermediate filament (GO:0005882)		p.S104F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCTTTGGATCCAGCAGCTGC	0.607																																					p.S104F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	21						.						54.0	55.0	54.0					21																	31768715		2203	4300	6503	30690586	SO:0001583	missense	140258	exon1			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.311C>T	21.37:g.31768715C>T	ENSP00000347635:p.Ser104Phe	Somatic		Capture	Illumina HiSeq	Phase_I	30690586	NM_181599	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993404	0.54041	.	.	ENSG00000198390	ENST00000355459	T	0.05139	3.49	4.14	3.26	0.37387	.	0.000000	0.41605	D	0.000844	T	0.25457	0.0619	M	0.87900	2.915	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.03157	-1.1066	10	0.66056	D	0.02	.	10.2686	0.43470	0.0:0.9014:0.0:0.0986	.	104	Q8IUC0	KR131_HUMAN	F	104	ENSP00000347635:S104F	ENSP00000347635:S104F	S	+	2	0	KRTAP13-1	30690586	0.002000	0.14202	0.003000	0.11579	0.195000	0.23768	1.653000	0.37323	1.328000	0.45358	0.557000	0.71058	TCC		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3		
KRTAP19-7	337974	broad.mit.edu	37	21	31933555	31933555	+	Silent	SNP	G	G	A	rs572700402		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:31933555G>A	ENST00000334849.2	-	1	78	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	18						intermediate filament (GO:0005882)		p.F18F(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGGCCACCGAATCCTCCAC	0.557													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16477	0.0		0.0	False		,,,				2504	0.0				p.F18F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	21						.						133.0	117.0	122.0					21																	31933555		2203	4300	6503	30855426	SO:0001819	synonymous_variant	337974	exon1			AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.54C>T	21.37:g.31933555G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30855426	NM_181614	Q08EP7	Silent	SNP	ENST00000334849.2	37	CCDS13599.1																																																																																				0.557	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2		
TIAM1	7074	broad.mit.edu	37	21	32554888	32554888	+	Missense_Mutation	SNP	C	C	A	rs149675965	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:32554888C>A	ENST00000286827.3	-	16	3208	c.2737G>T	c.(2737-2739)Gat>Tat	p.D913Y	TIAM1_ENST00000541036.1_Missense_Mutation_p.D853Y	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	913					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D913Y(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGAGGAAATCTTTGAGCATA	0.552																																					p.D913Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2737T	21						.						73.0	68.0	69.0					21																	32554888		2203	4300	6503	31476759	SO:0001583	missense	7074	exon16				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2737G>T	21.37:g.32554888C>A	ENSP00000286827:p.Asp913Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	31476759	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737258	0.69304	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.28454	1.61;1.61	4.42	4.42	0.53409	PDZ/DHR/GLGF (3);	0.210163	0.41605	D	0.000858	T	0.39145	0.1067	L	0.47716	1.5	0.45914	D	0.998754	P;P;P	0.45827	0.839;0.867;0.867	P;P;P	0.51170	0.53;0.661;0.661	T	0.28744	-1.0034	10	0.72032	D	0.01	.	14.0816	0.64925	0.0:1.0:0.0:0.0	.	853;853;913	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Y	913;754;853	ENSP00000286827:D913Y;ENSP00000441570:D853Y	ENSP00000286827:D913Y	D	-	1	0	TIAM1	31476759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.218000	0.58554	2.297000	0.77311	0.555000	0.69702	GAT		0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SCAF4	57466	broad.mit.edu	37	21	33044145	33044145	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:33044145G>T	ENST00000286835.7	-	20	3393	c.3011C>A	c.(3010-3012)tCt>tAt	p.S1004Y	SCAF4_ENST00000399804.1_Missense_Mutation_p.S982Y|SCAF4_ENST00000434667.3_Missense_Mutation_p.S989Y	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1004						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1004Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATTTCCAAAAGATCTTCTTCC	0.468																																					p.S989Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2966A	21						.						156.0	156.0	156.0					21																	33044145		2203	4300	6503	31966016	SO:0001583	missense	57466	exon19			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3011C>A	21.37:g.33044145G>T	ENSP00000286835:p.Ser1004Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	31966016	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527457	0.64860	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.23147	1.92;1.92;1.92	5.7	5.7	0.88788	.	0.099317	0.45361	D	0.000367	T	0.41282	0.1152	L	0.29908	0.895	0.45015	D	0.99803	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79108	0.987;0.992;0.991	T	0.16070	-1.0415	10	0.54805	T	0.06	-19.6696	18.0186	0.89249	0.0:0.0:1.0:0.0	.	989;982;1004	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	Y	989;1004;982	ENSP00000402377:S989Y;ENSP00000286835:S1004Y;ENSP00000382703:S982Y	ENSP00000286835:S1004Y	S	-	2	0	SCAF4	31966016	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.975000	0.63777	2.692000	0.91855	0.650000	0.86243	TCT		0.468	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
EVA1C	59271	broad.mit.edu	37	21	33887280	33887280	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:33887280A>G	ENST00000300255.2	+	8	1579	c.1106A>G	c.(1105-1107)gAg>gGg	p.E369G	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.E321G|EVA1C_ENST00000382699.3_Missense_Mutation_p.E366G	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	369						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E369G(1)									GACAAGGTCGAGGAGGACAGC	0.567																																					p.E369G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1106G	21						.						102.0	105.0	104.0					21																	33887280		2203	4300	6503	32809151	SO:0001583	missense	59271	exon8			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1106A>G	21.37:g.33887280A>G	ENSP00000300255:p.Glu369Gly	Somatic		Capture	Illumina HiSeq	Phase_I	32809151	NM_058187	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806677	0.50421	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.52526	0.66;0.66;0.66	5.61	2.01	0.26516	.	0.923980	0.09293	N	0.822106	T	0.52092	0.1713	M	0.68317	2.08	0.27942	N	0.937464	P;P	0.50443	0.935;0.935	P;P	0.47864	0.559;0.559	T	0.44345	-0.9334	10	0.54805	T	0.06	-6.9333	8.9389	0.35718	0.7879:0.0:0.2121:0.0	.	366;369	A6ND58;P58658	.;CU063_HUMAN	G	369;321;366	ENSP00000300255:E369G;ENSP00000384594:E321G;ENSP00000372146:E366G	ENSP00000300255:E369G	E	+	2	0	C21orf63	32809151	1.000000	0.71417	0.947000	0.38551	0.199000	0.23934	2.593000	0.46180	0.413000	0.25759	0.533000	0.62120	GAG		0.567	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
SYNJ1	8867	broad.mit.edu	37	21	34017314	34017314	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:34017314C>T	ENST00000322229.7	-	25	3393	c.3394G>A	c.(3394-3396)Gct>Act	p.A1132T	SYNJ1_ENST00000433931.2_Missense_Mutation_p.A1171T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A1132T|SYNJ1_ENST00000382499.2_Missense_Mutation_p.A1171T|SYNJ1_ENST00000382491.3_Intron			O43426	SYNJ1_HUMAN	synaptojanin 1	1132	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.A1132T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGACTCCTAGCCCCTTATAGT	0.368																																					p.A1171T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3511A	21						.						80.0	70.0	74.0					21																	34017314		2203	4299	6502	32939185	SO:0001583	missense	8867	exon26			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3394G>A	21.37:g.34017314C>T	ENSP00000322234:p.Ala1132Thr	Somatic		Capture	Illumina HiSeq	Phase_I	32939185	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.043376|3.043376	0.55003|0.55003	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000438952	D;D;D;D|.	0.93547|.	-3.21;-3.24;-2.4;-2.39|.	6.11|6.11	1.65|1.65	0.23941|0.23941	.|.	0.409334|.	0.28057|.	N|.	0.016763|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.19112|0.19112	0.55|0.55	0.31996|0.31996	N|N	0.60404|0.60404	B;B;B|.	0.26845|.	0.006;0.161;0.034|.	B;B;B|.	0.27380|.	0.014;0.079;0.053|.	T|T	0.51865|0.51865	-0.8651|-0.8651	10|6	0.59425|0.87932	D|D	0.04|0	.|.	10.7924|10.7924	0.46440|0.46440	0.3239:0.6116:0.0:0.0645|0.3239:0.6116:0.0:0.0645	.|.	1171;1132;1132|.	C9JFZ1;O43426-2;O43426-4|.	.;.;.|.	T|D	1132;1171;1171;1132|23	ENSP00000349903:A1132T;ENSP00000371939:A1171T;ENSP00000409667:A1171T;ENSP00000322234:A1132T|.	ENSP00000322234:A1132T|ENSP00000388869:G23D	A|G	-|-	1|2	0|0	SYNJ1|SYNJ1	32939185|32939185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.698000|1.698000	0.37794|0.37794	0.418000|0.418000	0.25898|0.25898	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.368	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
SYNJ1	8867	broad.mit.edu	37	21	34038278	34038278	+	Missense_Mutation	SNP	A	A	C	rs147929290		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:34038278A>C	ENST00000322229.7	-	16	2119	c.2120T>G	c.(2119-2121)aTa>aGa	p.I707R	SYNJ1_ENST00000433931.2_Missense_Mutation_p.I746R|SYNJ1_ENST00000357345.3_Missense_Mutation_p.I707R|SYNJ1_ENST00000382499.2_Missense_Mutation_p.I746R|SYNJ1_ENST00000382491.3_Missense_Mutation_p.I702R			O43426	SYNJ1_HUMAN	synaptojanin 1	707	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.I707R(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTTTCGTGCTATTTCTATAAA	0.373																																					p.I746R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2237G	21						.						69.0	61.0	64.0					21																	34038278		2203	4300	6503	32960149	SO:0001583	missense	8867	exon17			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2120T>G	21.37:g.34038278A>C	ENSP00000322234:p.Ile707Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32960149	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.928165	0.92389	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.997;1.0;0.998;0.999	D	0.99679	1.0998	10	0.87932	D	0	.	16.4052	0.83662	1.0:0.0:0.0:0.0	.	702;746;707;707;707	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	R	702;707;746;746;707	ENSP00000371931:I702R;ENSP00000349903:I707R;ENSP00000371939:I746R;ENSP00000409667:I746R;ENSP00000322234:I707R	ENSP00000322234:I707R	I	-	2	0	SYNJ1	32960149	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	9.339000	0.96797	2.279000	0.76181	0.402000	0.26972	ATA		0.373	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
C21orf62	56245	broad.mit.edu	37	21	34166357	34166357	+	Missense_Mutation	SNP	G	G	A	rs148054755	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:34166357G>A	ENST00000536776.1	-	2	516	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	C21orf62_ENST00000490358.1_Missense_Mutation_p.R126C|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.R126C|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.R126C|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382378.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	126								p.R126C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				ATGTTGATGCGCAGCCTCTTC	0.542																																					p.R126C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	21						.						89.0	86.0	87.0					21																	34166357		2088	4229	6317	33088227	SO:0001583	missense	56245	exon4			AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.376C>T	21.37:g.34166357G>A	ENSP00000444950:p.Arg126Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33088227	NM_001162495	A8K4L8	Missense_Mutation	SNP	ENST00000536776.1	37	CCDS42919.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836812	0.50951	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	5.5	5.5	0.81552	.	0.214824	0.28482	U	0.015195	T	0.75488	0.3856	M	0.66939	2.045	0.44012	D	0.996729	D	0.89917	1.0	D	0.63597	0.916	T	0.77885	-0.2421	9	0.87932	D	0	-32.9207	14.5819	0.68298	0.0:0.1461:0.8539:0.0	.	126	Q9NYP8	CU062_HUMAN	C	126;126;126;173;126	.	ENSP00000371810:R173C	R	-	1	0	C21orf62	33088227	0.320000	0.24616	0.926000	0.36857	0.294000	0.27393	3.432000	0.52824	2.581000	0.87130	0.462000	0.41574	CGC		0.542	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596	
DONSON	29980	broad.mit.edu	37	21	34956931	34956931	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:34956931A>G	ENST00000303071.5	-	4	816	c.750T>C	c.(748-750)aaT>aaC	p.N250N	DONSON_ENST00000453626.1_Silent_p.N250N|DONSON_ENST00000303113.6_Silent_p.N236N|DONSON_ENST00000432378.1_Silent_p.N250N	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	250					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.N250N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GGGTTGCATCATTTGACCAAG	0.398																																					p.N250N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T750C	21						.						121.0	112.0	115.0					21																	34956931		2203	4300	6503	33878801	SO:0001819	synonymous_variant	29980	exon4			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.750T>C	21.37:g.34956931A>G		Somatic		Capture	Illumina HiSeq	Phase_I	33878801	NM_017613	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Silent	SNP	ENST00000303071.5	37	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.934|6.934	0.542074|0.542074	0.13250|0.13250	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000440810	.|.	.|.	.|.	5.99|5.99	2.1|2.1	0.27182|0.27182	.|.	.|.	.|.	.|.	.|.	T|.	0.54224|.	0.1845|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44667|.	-0.9313|.	4|.	.|.	.|.	.|.	-24.106|-24.106	6.4901|6.4901	0.22111|0.22111	0.5061:0.3553:0.1386:0.0|0.5061:0.3553:0.1386:0.0	.|.	.|.	.|.	.|.	T|R	221|109	.|.	.|.	M|X	-|-	2|1	0|0	DONSON|DONSON	33878801|33878801	0.834000|0.834000	0.29399|0.29399	0.698000|0.698000	0.30274|0.30274	0.815000|0.815000	0.46073|0.46073	0.008000|0.008000	0.13197|0.13197	0.489000|0.489000	0.27749|0.27749	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.398	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613	
CLIC6	54102	broad.mit.edu	37	21	36079638	36079638	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:36079638C>A	ENST00000360731.3	+	3	1489	c.1489C>A	c.(1489-1491)Ctc>Atc	p.L497I	CLIC6_ENST00000349499.2_Missense_Mutation_p.L479I			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	497						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.L479I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CTTTATGATTCTCTGGCTGAA	0.443																																					p.L479I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1435A	21						.						168.0	138.0	148.0					21																	36079638		2203	4300	6503	35001508	SO:0001583	missense	54102	exon2			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1489C>A	21.37:g.36079638C>A	ENSP00000353959:p.Leu497Ile	Somatic		Capture	Illumina HiSeq	Phase_I	35001508	NM_053277	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	C	17.71	3.457907	0.63401	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.69175	-0.38;-0.38	4.8	4.8	0.61643	Thioredoxin-like fold (2);	0.164901	0.42420	D	0.000712	D	0.84924	0.5580	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87745	0.2588	10	0.72032	D	0.01	-22.8389	18.4134	0.90559	0.0:1.0:0.0:0.0	.	497;479	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	I	497;479	ENSP00000353959:L497I;ENSP00000290332:L479I	ENSP00000290332:L479I	L	+	1	0	CLIC6	35001508	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	7.524000	0.81866	2.631000	0.89168	0.643000	0.83706	CTC		0.443	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1		
CHAF1B	8208	broad.mit.edu	37	21	37781679	37781679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:37781679G>A	ENST00000314103.5	+	10	986	c.835G>A	c.(835-837)Gct>Act	p.A279T		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	279					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.A279T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TAGGCCCATCGCTCATCTTCC	0.488																																					p.A279T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G835A	21						.						275.0	263.0	267.0					21																	37781679		2203	4300	6503	36703549	SO:0001583	missense	8208	exon10			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.835G>A	21.37:g.37781679G>A	ENSP00000315700:p.Ala279Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36703549	NM_005441	Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478173	0.63849	.	.	ENSG00000159259	ENST00000314103	T	0.66638	-0.22	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050174	0.85682	D	0.000000	T	0.71829	0.3386	M	0.82132	2.575	0.80722	D	1	P	0.47106	0.89	P	0.46237	0.508	T	0.71297	-0.4635	10	0.09084	T	0.74	-19.757	18.7207	0.91692	0.0:0.0:1.0:0.0	.	279	Q13112	CAF1B_HUMAN	T	279	ENSP00000315700:A279T	ENSP00000315700:A279T	A	+	1	0	CHAF1B	36703549	1.000000	0.71417	0.928000	0.36995	0.648000	0.38561	9.111000	0.94308	2.400000	0.81607	0.655000	0.94253	GCT		0.488	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441	
HLCS	3141	broad.mit.edu	37	21	38302646	38302646	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:38302646C>T	ENST00000399120.1	-	6	2314	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	HLCS_ENST00000336648.4_Missense_Mutation_p.E362K|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	362					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.E362K(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTAAGGACTTCGTATCTTCTA	0.458																																					p.E362K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1084A	21						.						95.0	91.0	93.0					21																	38302646		2203	4300	6503	37224516	SO:0001583	missense	3141	exon6				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1084G>A	21.37:g.38302646C>T	ENSP00000382071:p.Glu362Lys	Somatic		Capture	Illumina HiSeq	Phase_I	37224516	NM_000411	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211684	0.39102	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98362	-4.89;-4.89	5.22	4.34	0.51931	.	0.158532	0.56097	D	0.000030	D	0.95815	0.8638	M	0.76574	2.34	0.45272	D	0.99827	P;P	0.44986	0.847;0.717	B;B	0.28553	0.091;0.075	D	0.94019	0.7291	10	0.33940	T	0.23	.	11.0911	0.48117	0.0:0.8482:0.0:0.1518	.	362;362	B2RAH1;P50747	.;BPL1_HUMAN	K	362	ENSP00000382071:E362K;ENSP00000338387:E362K	ENSP00000338387:E362K	E	-	1	0	HLCS	37224516	0.998000	0.40836	0.793000	0.32043	0.399000	0.30720	4.020000	0.57189	1.332000	0.45431	0.650000	0.86243	GAA		0.458	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		
KCNJ15	3772	broad.mit.edu	37	21	39671817	39671817	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:39671817C>T	ENST00000328656.4	+	4	937	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	KCNJ15_ENST00000398932.1_Missense_Mutation_p.L212F|KCNJ15_ENST00000398934.1_Missense_Mutation_p.L212F|KCNJ15_ENST00000398938.2_Missense_Mutation_p.L212F|KCNJ15_ENST00000398930.1_Missense_Mutation_p.L212F	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	212					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L212F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	TCAGTGCCAGCTCTCTGGCAA	0.542																																					p.L212F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634T	21						.						59.0	61.0	60.0					21																	39671817		2203	4300	6503	38593687	SO:0001583	missense	3772	exon3			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.634C>T	21.37:g.39671817C>T	ENSP00000331698:p.Leu212Phe	Somatic		Capture	Illumina HiSeq	Phase_I	38593687	NM_170736	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607816	0.66558	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934	D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.73	5.73	0.89815	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.067311	0.64402	D	0.000010	D	0.96645	0.8905	M	0.63843	1.955	0.52501	D	0.999953	D	0.67145	0.996	D	0.68353	0.957	D	0.95786	0.8821	9	.	.	.	.	19.8984	0.96975	0.0:1.0:0.0:0.0	.	212	Q99712	IRK15_HUMAN	F	212	ENSP00000331698:L212F;ENSP00000381911:L212F;ENSP00000381905:L212F;ENSP00000414487:L212F;ENSP00000381904:L212F;ENSP00000381907:L212F	.	L	+	1	0	KCNJ15	38593687	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.490000	0.35573	2.713000	0.92767	0.655000	0.94253	CTC		0.542	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243	
BRWD1	54014	broad.mit.edu	37	21	40571490	40571490	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:40571490G>T	ENST00000333229.2	-	40	5179	c.4852C>A	c.(4852-4854)Cta>Ata	p.L1618I	BRWD1_ENST00000342449.3_Missense_Mutation_p.L1618I|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1618I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1618					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1618I(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGGCTTTTAGAATTTCACCA	0.393											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.L1618I	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4852A	21						.						72.0	77.0	76.0					21																	40571490		2203	4300	6503	39493360	SO:0001583	missense	54014	exon40			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4852C>A	21.37:g.40571490G>T	ENSP00000330753:p.Leu1618Ile	Somatic	894	Capture	Illumina HiSeq	Phase_I	39493360	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	8.952	0.968496	0.18659	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56444	0.51;0.46;0.53	5.19	-10.0	0.00425	.	0.842297	0.10052	N	0.722103	T	0.32133	0.0819	L	0.46157	1.445	0.09310	N	1	B;B	0.14805	0.011;0.0	B;B	0.20184	0.028;0.001	T	0.13953	-1.0490	10	0.28530	T	0.3	-0.7042	2.9262	0.05785	0.1873:0.3491:0.2992:0.1644	.	1618;1618	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	I	1618	ENSP00000330753:L1618I;ENSP00000344333:L1618I;ENSP00000370178:L1618I	ENSP00000330753:L1618I	L	-	1	2	BRWD1	39493360	0.000000	0.05858	0.000000	0.03702	0.747000	0.42532	-0.509000	0.06336	-1.812000	0.01227	-1.092000	0.02172	CTA		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
BRWD1	54014	broad.mit.edu	37	21	40667675	40667675	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:40667675G>T	ENST00000333229.2	-	7	930	c.603C>A	c.(601-603)atC>atA	p.I201I	BRWD1_ENST00000342449.3_Silent_p.I201I|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Silent_p.I201I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	201					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F202fs*5(2)|p.I201I(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCACTGTAAAGATTCTATGTC	0.353																																					p.I201I	Melanoma(170;988 1986 4794 16843 39731)											.	.	4	Deletion - Frameshift(2)|Substitution - coding silent(2)	large_intestine(4)	c.C603A	21						.						94.0	92.0	92.0					21																	40667675		2203	4300	6503	39589545	SO:0001819	synonymous_variant	54014	exon7			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.603C>A	21.37:g.40667675G>T		Somatic		Capture	Illumina HiSeq	Phase_I	39589545	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1																																																																																				0.353	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
LCA5L	150082	broad.mit.edu	37	21	40778473	40778473	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:40778473C>A	ENST00000358268.2	-	10	1876	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	LCA5L_ENST00000380671.2_Missense_Mutation_p.D450Y|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.D450Y|LCA5L_ENST00000495240.1_5'UTR			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	450								p.D450Y(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TCTTTTTTGTCTTTTTGTCTT	0.318																																					p.D450Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1348T	21						.						84.0	90.0	88.0					21																	40778473		2203	4295	6498	39700343	SO:0001583	missense	150082	exon10			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1348G>T	21.37:g.40778473C>A	ENSP00000351008:p.Asp450Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39700343	NM_152505	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	7.970	0.748880	0.15710	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.56776	0.44;0.44;0.44	4.63	3.72	0.42706	.	0.489617	0.18681	N	0.134147	T	0.34803	0.0910	N	0.12182	0.205	0.27708	N	0.945546	B	0.09022	0.002	B	0.04013	0.001	T	0.29761	-1.0001	10	0.54805	T	0.06	-5.3071	12.2016	0.54328	0.1712:0.8288:0.0:0.0	.	450	O95447	LCA5L_HUMAN	Y	450	ENSP00000288350:D450Y;ENSP00000370046:D450Y;ENSP00000351008:D450Y	ENSP00000288350:D450Y	D	-	1	0	LCA5L	39700343	0.007000	0.16637	0.039000	0.18376	0.215000	0.24574	0.796000	0.26986	1.040000	0.40099	0.655000	0.94253	GAC		0.318	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
LCA5L	150082	broad.mit.edu	37	21	40794964	40794964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:40794964C>A	ENST00000358268.2	-	5	1303	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	LCA5L_ENST00000380671.2_Nonsense_Mutation_p.E259*|LCA5L_ENST00000485895.2_Nonsense_Mutation_p.E259*|LCA5L_ENST00000288350.3_Nonsense_Mutation_p.E259*			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	259								p.E259*(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGAGTGAGTTCTTCCCTTTCT	0.373																																					p.E259X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G775T	21						.						139.0	139.0	139.0					21																	40794964		2203	4300	6503	39716834	SO:0001587	stop_gained	150082	exon5			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.775G>T	21.37:g.40794964C>A	ENSP00000351008:p.Glu259*	Somatic		Capture	Illumina HiSeq	Phase_I	39716834	NM_152505	D3DSI0|Q3ZCT0	Nonsense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	38	6.742609	0.97805	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	.	.	.	5.06	5.06	0.68205	.	0.196194	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-27.3157	18.8157	0.92076	0.0:1.0:0.0:0.0	.	.	.	.	X	259	.	ENSP00000288350:E259X	E	-	1	0	LCA5L	39716834	0.983000	0.35010	0.658000	0.29665	0.788000	0.44548	2.974000	0.49272	2.516000	0.84829	0.655000	0.94253	GAA		0.373	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
DSCAM	1826	broad.mit.edu	37	21	41559067	41559067	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:41559067T>G	ENST00000400454.1	-	14	3247	c.2770A>C	c.(2770-2772)Aat>Cat	p.N924H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	924	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.N924H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTGATTTATTTTTGCATTCA	0.403																																					p.N924H	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2770C	21						.						183.0	188.0	186.0					21																	41559067		1921	4125	6046	40480937	SO:0001583	missense	1826	exon14			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2770A>C	21.37:g.41559067T>G	ENSP00000383303:p.Asn924His	Somatic		Capture	Illumina HiSeq	Phase_I	40480937	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176873	0.78564	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57595	0.39;0.39	4.99	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	L	0.45137	1.4	0.51233	D	0.99991	D	0.89917	1.0	D	0.91635	0.999	T	0.66436	-0.5924	10	0.51188	T	0.08	.	14.9858	0.71348	0.0:0.0:0.0:1.0	.	924	O60469	DSCAM_HUMAN	H	924;676	ENSP00000383303:N924H;ENSP00000385342:N676H	ENSP00000383303:N924H	N	-	1	0	DSCAM	40480937	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.896000	0.87350	1.991000	0.58162	0.459000	0.35465	AAT		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
ZBTB21	49854	broad.mit.edu	37	21	43411786	43411786	+	Missense_Mutation	SNP	C	C	T	rs374335079		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:43411786C>T	ENST00000310826.5	-	3	2602	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	ZBTB21_ENST00000398511.3_Missense_Mutation_p.E807K|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E807K|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E606K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	807					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.E807K(1)									GAAAAGTTTTCGGTGGGTGCC	0.517																																					p.E606K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816A	21						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	119.0	114.0	116.0		2419,1816,2419	5.2	0.0	21		116	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense	ZNF295	NM_001098402.1,NM_001098403.1,NM_020727.4	56,56,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	807/1067,606/866,807/1067	43411786	2,13004	2203	4300	6503	42284855	SO:0001583	missense	49854	exon4			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2419G>A	21.37:g.43411786C>T	ENSP00000308759:p.Glu807Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42284855	NM_001098403	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039774	0.35989	0.0	2.33E-4	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07800	3.48;3.16;3.16;3.16	5.2	5.2	0.72013	.	0.362266	0.25019	N	0.033775	T	0.15262	0.0368	M	0.61703	1.905	0.50039	D	0.999845	D;P	0.57571	0.98;0.931	P;B	0.45449	0.481;0.226	T	0.02450	-1.1157	10	0.33940	T	0.23	-8.9836	19.1124	0.93321	0.0:1.0:0.0:0.0	.	606;807	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	K	606;807;807;807	ENSP00000381517:E606K;ENSP00000308759:E807K;ENSP00000381512:E807K;ENSP00000381523:E807K	ENSP00000308759:E807K	E	-	1	0	ZNF295	42284855	1.000000	0.71417	0.013000	0.15412	0.143000	0.21401	5.177000	0.65032	2.596000	0.87737	0.563000	0.77884	GAA		0.517	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
TRAPPC10	7109	broad.mit.edu	37	21	45452012	45452012	+	Silent	SNP	G	G	A	rs146758196		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:45452012G>A	ENST00000291574.4	+	2	283	c.108G>A	c.(106-108)acG>acA	p.T36T	TRAPPC10_ENST00000380221.3_Silent_p.T36T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	36					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.T36T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTTATCCAACGCTCTCTCAGC	0.373																																					p.T36T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	21						.	G		1,4405	2.1+/-5.4	0,1,2202	155.0	154.0	154.0		108	-8.8	0.1	21	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	TRAPPC10	NM_003274.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		36/1260	45452012	1,13005	2203	4300	6503	44276440	SO:0001819	synonymous_variant	7109	exon2			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.108G>A	21.37:g.45452012G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44276440	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																				0.373	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
TPTE	7179	broad.mit.edu	37	21	10951425	10951425	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:10951425A>G	ENST00000361285.4	-	10	616	c.287T>C	c.(286-288)cTa>cCa	p.L96P	TPTE_ENST00000298232.7_Missense_Mutation_p.L78P|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L58P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	96					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L78P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACTCCAAATAGTCTAaaata	0.338																																					p.L78P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T233C	21						.						80.0	85.0	84.0					21																	10951425		2203	4299	6502	9973296	SO:0001583	missense	7179	exon9			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.287T>C	21.37:g.10951425A>G	ENSP00000355208:p.Leu96Pro	Somatic		Capture	Illumina HiSeq	Phase_I	9973296	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.74	2.027993	0.35797	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97791	-4.54;-4.54;-4.54	1.8	1.8	0.24995	.	0.299368	0.31312	U	0.007872	D	0.93403	0.7896	N	0.14661	0.345	0.80722	D	1	D;P;P	0.56035	0.974;0.944;0.906	P;P;B	0.48030	0.564;0.564;0.361	D	0.91211	0.4999	10	0.87932	D	0	-10.815	5.6804	0.17771	1.0:0.0:0.0:0.0	.	58;78;96	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	P	78;96;58;78	ENSP00000298232:L78P;ENSP00000355208:L96P;ENSP00000344441:L58P	ENSP00000298232:L78P	L	-	2	0	TPTE	9973296	0.995000	0.38212	0.555000	0.28281	0.050000	0.14768	3.939000	0.56591	1.084000	0.41184	0.163000	0.16589	CTA		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
PCNT	5116	broad.mit.edu	37	21	47773204	47773204	+	Missense_Mutation	SNP	C	C	T	rs577992249		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr21:47773204C>T	ENST00000359568.5	+	10	1750	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	548	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.A548V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGCAGGGGGCGAGGGAAGAT	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19531	0.0		0.0	False		,,,				2504	0.0				p.A548V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1643T	21						.						69.0	76.0	74.0					21																	47773204		2203	4300	6503	46597632	SO:0001583	missense	5116	exon10			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1643C>T	21.37:g.47773204C>T	ENSP00000352572:p.Ala548Val	Somatic		Capture	Illumina HiSeq	Phase_I	46597632	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337677	0.05278	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01665	4.7	4.84	-5.65	0.02459	.	.	.	.	.	T	0.01092	0.0036	N	0.21373	0.66	0.09310	N	1	B;B	0.17852	0.015;0.024	B;B	0.08055	0.003;0.001	T	0.46569	-0.9182	9	0.28530	T	0.3	.	2.5652	0.04781	0.1172:0.364:0.1283:0.3904	.	430;548	O95613-2;O95613	.;PCNT_HUMAN	V	548;535	ENSP00000352572:A548V	ENSP00000338675:A535V	A	+	2	0	PCNT	46597632	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.018000	0.13422	-1.503000	0.01812	-0.471000	0.05019	GCG		0.498	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
CCT8L2	150160	broad.mit.edu	37	22	17071874	17071874	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:17071874C>T	ENST00000359963.3	-	1	1826	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	523					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A523T(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTTTTCTTGGCCACTACGATT	0.478																																					p.A523T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567A	22						.						129.0	116.0	121.0					22																	17071874		2203	4300	6503	15451874	SO:0001583	missense	150160	exon1			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1567G>A	22.37:g.17071874C>T	ENSP00000353048:p.Ala523Thr	Somatic		Capture	Illumina HiSeq	Phase_I	15451874	NM_014406	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	14.12	2.440543	0.43326	.	.	ENSG00000198445	ENST00000359963	T	0.80033	-1.33	1.98	1.98	0.26296	.	0.000000	0.39210	U	0.001426	D	0.86632	0.5979	M	0.80332	2.49	0.34858	D	0.742316	D	0.60575	0.988	D	0.67900	0.954	D	0.88441	0.3042	10	0.62326	D	0.03	-17.8434	7.4423	0.27190	0.0:1.0:0.0:0.0	.	523	Q96SF2	TCPQM_HUMAN	T	523	ENSP00000353048:A523T	ENSP00000353048:A523T	A	-	1	0	CCT8L2	15451874	0.998000	0.40836	0.957000	0.39632	0.401000	0.30781	2.959000	0.49153	1.115000	0.41800	0.379000	0.24179	GCC		0.478	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
DGCR14	8220	broad.mit.edu	37	22	19124937	19124937	+	Missense_Mutation	SNP	C	C	T	rs202175079		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:19124937C>T	ENST00000252137.6	-	8	977	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	312					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.E312K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ATCGGGGACTCGTTCACACCT	0.582																																					p.E312K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934A	22						.						164.0	137.0	146.0					22																	19124937		2203	4300	6503	17504937	SO:0001583	missense	8220	exon8			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.934G>A	22.37:g.19124937C>T	ENSP00000252137:p.Glu312Lys	Somatic		Capture	Illumina HiSeq	Phase_I	17504937	NM_022719	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200774	0.58234	.	.	ENSG00000100056	ENST00000252137	T	0.42513	0.97	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.84326	2.69	0.58432	D	0.999999	D	0.55385	0.971	P	0.48873	0.593	T	0.56884	-0.7905	10	0.12766	T	0.61	-27.2675	17.2171	0.86947	0.0:1.0:0.0:0.0	.	312	Q96DF8	DGC14_HUMAN	K	312	ENSP00000252137:E312K	ENSP00000252137:E312K	E	-	1	0	DGCR14	17504937	1.000000	0.71417	0.942000	0.38095	0.191000	0.23601	7.000000	0.76290	2.394000	0.81467	0.484000	0.47621	GAG		0.582	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2		
CLTCL1	8218	broad.mit.edu	37	22	19175222	19175222	+	Missense_Mutation	SNP	C	C	T	rs553137718		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:19175222C>T	ENST00000263200.10	-	29	4525	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N	CLTCL1_ENST00000427926.1_Missense_Mutation_p.D1485N|CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1485	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.D1485N(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATAGGCATCGATAGATGCC	0.517			T	?	ALCL								C|||	1	0.000199681	0.0	0.0	5008	,	,		23036	0.0		0.0	False		,,,				2504	0.001				p.D1485N			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G4453A	22						.						60.0	61.0	61.0					22																	19175222		2037	4191	6228	17555222	SO:0001583	missense	8218	exon29				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4453G>A	22.37:g.19175222C>T	ENSP00000445677:p.Asp1485Asn	Somatic		Capture	Illumina HiSeq	Phase_I	17555222	NM_007098	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528463	0.27299	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.18960	2.18;2.18	3.97	-0.521	0.11931	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.127101	0.51477	N	0.000086	T	0.27629	0.0679	M	0.86028	2.79	0.49798	D	0.999827	B	0.20459	0.045	B	0.30179	0.112	T	0.08391	-1.0724	10	0.54805	T	0.06	-5.7498	8.3969	0.32561	0.0:0.6694:0.0:0.3306	.	1485	P53675	CLH2_HUMAN	N	1485	ENSP00000445677:D1485N;ENSP00000441158:D1485N	ENSP00000445677:D1485N	D	-	1	0	CLTCL1	17555222	0.993000	0.37304	0.130000	0.21974	0.107000	0.19398	2.698000	0.47068	-0.190000	0.10465	-0.142000	0.14014	GAT		0.517	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
CLTCL1	8218	broad.mit.edu	37	22	19207480	19207480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:19207480G>A	ENST00000263200.10	-	18	2905	c.2833C>T	c.(2833-2835)Cgc>Tgc	p.R945C	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R945C|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R945C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	945	Heavy chain arm.|Proximal segment.		R -> H (in dbSNP:rs36077768).		anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.R945C(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCAGGTAGCGGGCCTCGCTT	0.542			T	?	ALCL																																p.R945C			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2833T	22						.						140.0	140.0	140.0					22																	19207480		1986	4154	6140	17587480	SO:0001583	missense	8218	exon18				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2833C>T	22.37:g.19207480G>A	ENSP00000445677:p.Arg945Cys	Somatic		Capture	Illumina HiSeq	Phase_I	17587480	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310012	0.60414	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20738	2.05;2.05;2.05	4.03	1.91	0.25777	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.074084	0.52532	N	0.000072	T	0.53400	0.1794	H	0.94771	3.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.974	T	0.62992	-0.6736	10	0.87932	D	0	-4.9472	11.1651	0.48539	0.1182:0.0:0.8818:0.0	.	945;945	P53675-2;P53675	.;CLH2_HUMAN	C	945	ENSP00000439662:R945C;ENSP00000445677:R945C;ENSP00000441158:R945C	ENSP00000445677:R945C	R	-	1	0	CLTCL1	17587480	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	4.759000	0.62227	0.366000	0.24427	0.467000	0.42956	CGC		0.542	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
ZNF74	7625	broad.mit.edu	37	22	20754976	20754976	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:20754976C>A	ENST00000400451.2	+	3	689	c.175C>A	c.(175-177)Caa>Aaa	p.Q59K	ZNF74_ENST00000357502.5_Nonsense_Mutation_p.S64*|ZNF74_ENST00000356671.5_Missense_Mutation_p.Q59K|ZNF74_ENST00000403682.3_Nonsense_Mutation_p.S30*|ZNF74_ENST00000405993.1_Missense_Mutation_p.Q59K	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q59K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGAGTGGGGTCAACTAGACTC	0.537																																					p.Q59K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C175A	22						.						101.0	117.0	112.0					22																	20754976		2203	4300	6503	19084976	SO:0001583	missense	7625	exon3			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.175C>A	22.37:g.20754976C>A	ENSP00000383301:p.Gln59Lys	Somatic		Capture	Illumina HiSeq	Phase_I	19084976	NM_003426	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.135019|8.135019	0.98670|0.98670	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993|ENST00000403682;ENST00000357502	T;T;T|.	0.01887|.	4.58;4.58;4.58|.	3.37|3.37	3.37|3.37	0.38596|0.38596	Krueppel-associated box (4);|.	0.000000|.	0.33346|.	N|.	0.005019|.	T|.	0.34832|.	0.0911|.	L|L	0.34521|0.34521	1.04|1.04	0.22541|0.22541	N|N	0.999002|0.999002	D|.	0.59767|.	0.986|.	P|.	0.58970|.	0.849|.	T|.	0.14980|.	-1.0453|.	10|.	0.27082|0.30078	T|T	0.32|0.28	.|.	8.1805|8.1805	0.31307|0.31307	0.2388:0.7612:0.0:0.0|0.2388:0.7612:0.0:0.0	.|.	59|.	Q16587|.	ZNF74_HUMAN|.	K|X	59|30;64	ENSP00000383301:Q59K;ENSP00000349098:Q59K;ENSP00000385855:Q59K|.	ENSP00000349098:Q59K|ENSP00000350101:S64X	Q|S	+|+	1|2	0|0	ZNF74|ZNF74	19084976|19084976	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	0.493000|0.493000	0.22451|0.22451	2.178000|2.178000	0.69098|0.69098	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.537	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426	
PI4KA	5297	broad.mit.edu	37	22	21073103	21073103	+	Silent	SNP	G	G	A	rs374474618		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:21073103G>A	ENST00000572273.1	-	44	5180	c.4950C>T	c.(4948-4950)atC>atT	p.I1650I	PI4KA_ENST00000414196.3_Silent_p.I460I|PI4KA_ENST00000255882.6_Silent_p.I1708I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1650	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.I1650I(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGAGGTCGCCGATGTCAGCTG	0.552																																					p.I460I	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1380T	22						.	G	,	1,4405	2.1+/-5.4	0,1,2202	53.0	50.0	51.0		1380,4950	-8.3	0.4	22		51	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PI4KA	NM_002650.2,NM_058004.3	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	460/855,1650/2045	21073103	3,13003	2203	4300	6503	19403103	SO:0001819	synonymous_variant	5297	exon12			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4950C>T	22.37:g.21073103G>A		Somatic		Capture	Illumina HiSeq	Phase_I	19403103	NM_002650	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
PI4KA	5297	broad.mit.edu	37	22	21153532	21153532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:21153532C>T	ENST00000572273.1	-	16	1909	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	PI4KA_ENST00000255882.6_Missense_Mutation_p.R618Q			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	560					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R560Q(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCCCAAGGCTCGGATTGTGTG	0.567																																					p.R560Q	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1679A	22						.						73.0	66.0	69.0					22																	21153532		2203	4300	6503	19483532	SO:0001583	missense	5297	exon16			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1679G>A	22.37:g.21153532C>T	ENSP00000458238:p.Arg560Gln	Somatic		Capture	Illumina HiSeq	Phase_I	19483532	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.300142	0.95574	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.34521	1.04	0.80722	D	1	P;B	0.38280	0.625;0.159	B;B	0.28709	0.093;0.043	T	0.31364	-0.9946	9	0.27785	T	0.31	-10.9273	17.4787	0.87667	0.0:1.0:0.0:0.0	.	618;560	D3DX33;P42356	.;PI4KA_HUMAN	Q	560	.	ENSP00000255882:R560Q	R	-	2	0	PI4KA	19483532	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.915000	0.69973	2.348000	0.79779	0.491000	0.48974	CGA		0.567	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
AIFM3	150209	broad.mit.edu	37	22	21330733	21330733	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:21330733G>T	ENST00000399167.2	+	11	1176	c.936G>T	c.(934-936)gaG>gaT	p.E312D	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.E312D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E318D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E312D|AIFM3_ENST00000399163.2_Missense_Mutation_p.E312D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E300D	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	312					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.E312D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAGAAGTGGAGAACGTGTTCA	0.647																																					p.E318D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G954T	22						.						73.0	59.0	64.0					22																	21330733		2203	4300	6503	19660733	SO:0001583	missense	150209	exon11			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.936G>T	22.37:g.21330733G>T	ENSP00000382120:p.Glu312Asp	Somatic		Capture	Illumina HiSeq	Phase_I	19660733	NM_001146288	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	7.732	0.699407	0.15106	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.7	2.61	0.31194	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.237777	0.43416	D	0.000580	T	0.25791	0.0628	N	0.25060	0.705	0.43678	D	0.996116	B;B;B;B;B	0.23806	0.091;0.011;0.007;0.007;0.009	B;B;B;B;B	0.22386	0.039;0.034;0.011;0.011;0.02	T	0.04467	-1.0949	10	0.13108	T	0.6	-13.2901	4.3094	0.10964	0.1928:0.0:0.6276:0.1796	.	300;300;318;312;312	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	D	312;312;318;300;312;312	ENSP00000382120:E312D;ENSP00000382116:E312D;ENSP00000385800:E318D;ENSP00000335369:E300D;ENSP00000390798:E312D;ENSP00000327671:E312D	ENSP00000327671:E312D	E	+	3	2	AIFM3	19660733	1.000000	0.71417	0.982000	0.44146	0.182000	0.23217	1.172000	0.31908	0.429000	0.26202	0.561000	0.74099	GAG		0.647	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	
TOP3B	8940	broad.mit.edu	37	22	22316802	22316802	+	Splice_Site	SNP	G	G	A	rs373131871		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:22316802G>A	ENST00000398793.2	-	13	1958	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	TOP3B_ENST00000413067.2_Silent_p.I237I|TOP3B_ENST00000357179.5_Splice_Site_p.I508I	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	508					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.I508I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CGCACCCACCGATGCCATGCT	0.647																																					p.I508I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1524T	22						.	G		0,4406		0,0,2203	86.0	81.0	82.0		1524	-0.1	1.0	22		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	TOP3B	NM_003935.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		508/863	22316802	1,13005	2203	4300	6503	20646802	SO:0001630	splice_region_variant	8940	exon13			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1525+1C>T	22.37:g.22316802G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20646802	NM_003935	A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211383	0.39102	0.0	1.16E-4	ENSG00000100038	ENST00000457270	.	.	.	5.12	-0.0531	0.13819	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50242	-0.8851	4	.	.	.	.	10.0316	0.42103	0.6736:0.0:0.3264:0.0	.	.	.	.	L	303	.	.	S	-	2	0	TOP3B	20646802	0.016000	0.18221	0.996000	0.52242	0.979000	0.70002	-0.880000	0.04183	-0.242000	0.09667	0.563000	0.77884	TCG		0.647	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	Silent
ZNF280A	129025	broad.mit.edu	37	22	22868880	22868880	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:22868880C>T	ENST00000302097.3	-	2	1327	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	359					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.A359T(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCCCCATGGCGATGTGTACA	0.507																																					p.A359T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1075A	22						.						122.0	111.0	114.0					22																	22868880		2203	4300	6503	21198880	SO:0001583	missense	129025	exon2			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1075G>A	22.37:g.22868880C>T	ENSP00000302855:p.Ala359Thr	Somatic		Capture	Illumina HiSeq	Phase_I	21198880	NM_080740		Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	3.635	-0.074732	0.07184	.	.	ENSG00000169548	ENST00000302097	T	0.01172	5.23	3.9	-7.81	0.01210	Zinc finger, C2H2 (1);	.	.	.	.	T	0.00754	0.0025	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.46541	-0.9184	9	0.48119	T	0.1	-0.0584	0.4928	0.00567	0.1865:0.2009:0.1822:0.4304	.	359	P59817	Z280A_HUMAN	T	359	ENSP00000302855:A359T	ENSP00000302855:A359T	A	-	1	0	ZNF280A	21198880	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-5.540000	0.00115	-3.471000	0.00157	-0.137000	0.14449	GCC		0.507	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
DRICH1	51233	broad.mit.edu	37	22	23956329	23956329	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:23956329T>G	ENST00000317749.5	-	9	911	c.614A>C	c.(613-615)gAc>gCc	p.D205A		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		205	Asp-rich.							p.D205A(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TACGTGGATGTCATCATCATC	0.378																																					p.D205A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614C	22						.						215.0	219.0	218.0					22																	23956329		2007	4186	6193	22286329	SO:0001583	missense	51233	exon9																														ENST00000317749.5:c.614A>C	22.37:g.23956329T>G	ENSP00000316137:p.Asp205Ala	Somatic		Capture	Illumina HiSeq	Phase_I	22286329	NM_016449	Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	t	1.687	-0.505074	0.04261	.	.	ENSG00000189269	ENST00000317749	T	0.39406	1.08	0.608	0.608	0.17569	.	.	.	.	.	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B	0.27700	0.186	B	0.15052	0.012	T	0.16482	-1.0401	8	0.72032	D	0.01	.	.	.	.	.	205	Q6PGQ1	CV043_HUMAN	A	205	ENSP00000316137:D205A	ENSP00000316137:D205A	D	-	2	0	C22orf43	22286329	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.617000	0.05584	0.493000	0.27837	0.317000	0.21355	GAC		0.378	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2		
CABIN1	23523	broad.mit.edu	37	22	24483552	24483552	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:24483552C>T	ENST00000398319.2	+	23	3796	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	CABIN1_ENST00000405822.2_Silent_p.S1087S|CABIN1_ENST00000263119.5_Silent_p.S1137S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1137					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.S1137S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGATTGACAGCTCCAACTTGT	0.552																																					p.S1137S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3411T	22						.						112.0	94.0	100.0					22																	24483552		2203	4300	6503	22813552	SO:0001819	synonymous_variant	23523	exon23			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3411C>T	22.37:g.24483552C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22813552	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
ADORA2A	135	broad.mit.edu	37	22	24836613	24836613	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:24836613C>T	ENST00000337539.7	+	3	854	c.395C>T	c.(394-396)tCg>tTg	p.S132L	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A_ENST00000496497.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	132					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.S132L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	TGGGTGCTGTCGTTTGCCATC	0.602																																					p.S132L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C395T	22						.						168.0	157.0	161.0					22																	24836613		2203	4300	6503	23166613	SO:0001583	missense	135	exon3			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.395C>T	22.37:g.24836613C>T	ENSP00000336630:p.Ser132Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23166613	NM_000675	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090302	0.94149	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.46819	0.86;0.86	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84923	0.0855	10	0.87932	D	0	-17.712	17.2487	0.87035	0.0:1.0:0.0:0.0	.	132	P29274	AA2AR_HUMAN	L	132	ENSP00000414802:S132L;ENSP00000336630:S132L	ENSP00000336630:S132L	S	+	2	0	ADORA2A	23166613	1.000000	0.71417	0.943000	0.38184	0.995000	0.86356	7.556000	0.82233	2.373000	0.80994	0.563000	0.77884	TCG		0.602	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
UPB1	51733	broad.mit.edu	37	22	24896223	24896223	+	Missense_Mutation	SNP	G	G	A	rs565810399		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:24896223G>A	ENST00000326010.5	+	2	597	c.253G>A	c.(253-255)Gca>Aca	p.A85T	UPB1_ENST00000382760.2_Missense_Mutation_p.A85T|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	85	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		A -> E (in BUPD; complete loss of activity; dbSNP:rs34035085). {ECO:0000269|PubMed:15385443}.		beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.A85T(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCCCCTCCCCGCAAATGCCCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18739	0.0		0.0	False		,,,				2504	0.001				p.A85T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G253A	22						.						61.0	64.0	63.0					22																	24896223		2203	4300	6503	23226223	SO:0001583	missense	51733	exon2			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.253G>A	22.37:g.24896223G>A	ENSP00000324343:p.Ala85Thr	Somatic		Capture	Illumina HiSeq	Phase_I	23226223	NM_016327	A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.653832	0.00779	.	.	ENSG00000100024	ENST00000326010;ENST00000382760;ENST00000426507	D;T	0.84442	-1.85;-1.09	4.66	-3.38	0.04883	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.205232	0.49916	N	0.000127	T	0.30572	0.0769	N	0.00006	-3.22	0.39217	D	0.963434	B	0.09022	0.002	B	0.06405	0.002	T	0.58375	-0.7647	10	0.02654	T	1	-1.3564	6.7686	0.23581	0.6427:0.1474:0.2099:0.0	.	85	Q9UBR1	BUP1_HUMAN	T	85	ENSP00000324343:A85T;ENSP00000372208:A85T	ENSP00000324343:A85T	A	+	1	0	UPB1	23226223	0.040000	0.19996	0.001000	0.08648	0.016000	0.09150	0.428000	0.21395	-0.162000	0.10964	-0.409000	0.06214	GCA		0.567	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
PIWIL3	440822	broad.mit.edu	37	22	25123944	25123944	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:25123944A>C	ENST00000332271.5	-	16	2425	c.2009T>G	c.(2008-2010)gTt>gGt	p.V670G	PIWIL3_ENST00000527701.1_Missense_Mutation_p.V552G|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V552G|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	670	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.V670G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGTACTTGCAACAAATCCTGC	0.343																																					p.V670G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2009G	22						.						136.0	121.0	126.0					22																	25123944		2203	4300	6503	23453944	SO:0001583	missense	440822	exon16			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2009T>G	22.37:g.25123944A>C	ENSP00000330031:p.Val670Gly	Somatic		Capture	Illumina HiSeq	Phase_I	23453944	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994149	0.35226	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.20598	2.06;2.06;2.06	2.66	2.66	0.31614	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.56848	0.2013	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.66528	-0.5901	10	0.87932	D	0	-14.1808	8.8087	0.34954	1.0:0.0:0.0:0.0	.	552;661;670	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	G	670;552;552	ENSP00000330031:V670G;ENSP00000431843:V552G;ENSP00000435718:V552G	ENSP00000330031:V670G	V	-	2	0	PIWIL3	23453944	1.000000	0.71417	0.864000	0.33941	0.028000	0.11728	5.887000	0.69751	1.237000	0.43756	0.459000	0.35465	GTT		0.343	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PIWIL3	440822	broad.mit.edu	37	22	25145393	25145393	+	Nonsense_Mutation	SNP	C	C	A	rs143068153		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:25145393C>A	ENST00000332271.5	-	11	1728	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*	PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.E329*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.E329*|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	438					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.E438*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGATGAATTCTTTTAATGTA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		21658	0.0		0.001	False		,,,				2504	0.0				p.E438X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1312T	22						.						170.0	139.0	149.0					22																	25145393		2203	4300	6503	23475393	SO:0001587	stop_gained	440822	exon11			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1312G>T	22.37:g.25145393C>A	ENSP00000330031:p.Glu438*	Somatic		Capture	Illumina HiSeq	Phase_I	23475393	NM_001008496		Nonsense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	6.157269	0.97334	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.81	-1.13	0.09775	.	0.332441	0.28624	U	0.014684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	7.1131	0.25401	0.0:0.2969:0.0:0.7031	.	.	.	.	X	438;329;329	.	ENSP00000330031:E438X	E	-	1	0	PIWIL3	23475393	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.059000	0.11731	-0.476000	0.06842	0.305000	0.20034	GAA		0.393	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PIWIL3	440822	broad.mit.edu	37	22	25158424	25158424	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:25158424G>A	ENST00000332271.5	-	2	459	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	15					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.R15C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCTCCCTGCGGCGGGCTCTG	0.547																																					p.R15C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C43T	22						.						88.0	81.0	84.0					22																	25158424		2203	4300	6503	23488424	SO:0001583	missense	440822	exon2			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.43C>T	22.37:g.25158424G>A	ENSP00000330031:p.Arg15Cys	Somatic		Capture	Illumina HiSeq	Phase_I	23488424	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333840	0.24253	.	.	ENSG00000184571	ENST00000332271	T	0.04551	3.6	2.42	-4.84	0.03151	.	0.373783	0.26394	U	0.024628	T	0.02888	0.0086	L	0.36672	1.1	0.09310	N	0.999998	D;D	0.52996	0.957;0.957	B;B	0.41764	0.366;0.366	T	0.25606	-1.0127	10	0.56958	D	0.05	0.0511	1.3979	0.02264	0.1228:0.215:0.2763:0.386	.	15;15	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	C	15	ENSP00000330031:R15C	ENSP00000330031:R15C	R	-	1	0	PIWIL3	23488424	0.000000	0.05858	0.000000	0.03702	0.400000	0.30750	-1.343000	0.02642	-2.308000	0.00652	-0.300000	0.09419	CGC		0.547	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
SGSM1	129049	broad.mit.edu	37	22	25315953	25315953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:25315953C>A	ENST00000400359.4	+	25	3358	c.3351C>A	c.(3349-3351)ttC>ttA	p.F1117L	SGSM1_ENST00000400358.4_Missense_Mutation_p.F1062L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1117						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.F1062L(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCATCAAATTCTTTAATGGTA	0.512																																					p.F1062L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3186A	22						.						59.0	53.0	55.0					22																	25315953		1968	4164	6132	23645953	SO:0001583	missense	129049	exon24			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3351C>A	22.37:g.25315953C>A	ENSP00000383212:p.Phe1117Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23645953	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	c	18.01	3.528042	0.64860	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.22336	1.96;1.96	5.53	3.43	0.39272	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.85197	2.74	0.52501	D	0.999958	B;B;P;D	0.76494	0.296;0.337;0.946;0.999	P;B;P;D	0.79784	0.541;0.437;0.881;0.993	T	0.45483	-0.9258	10	0.72032	D	0.01	-37.1812	8.7309	0.34498	0.0:0.7353:0.0:0.2647	.	1062;1117;1134;1117	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	L	1117;1062;1117	ENSP00000383211:F1062L;ENSP00000383212:F1117L	ENSP00000383211:F1062L	F	+	3	2	SGSM1	23645953	1.000000	0.71417	0.987000	0.45799	0.718000	0.41266	1.025000	0.30090	0.795000	0.33922	0.655000	0.94253	TTC		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
MYO18B	84700	broad.mit.edu	37	22	26164278	26164278	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:26164278G>A	ENST00000407587.2	+	4	564	c.395G>A	c.(394-396)gGc>gAc	p.G132D	MYO18B_ENST00000536101.1_Missense_Mutation_p.G132D|MYO18B_ENST00000335473.7_Missense_Mutation_p.G132D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	132						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G132D(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGAGCTGGGCTCCAGTGCG	0.612																																					p.G132D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	22						.						39.0	44.0	43.0					22																	26164278		2016	4166	6182	24494278	SO:0001583	missense	84700	exon4			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.395G>A	22.37:g.26164278G>A	ENSP00000386096:p.Gly132Asp	Somatic		Capture	Illumina HiSeq	Phase_I	24494278	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	11.83	1.754193	0.31046	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.90069	-2.59;-2.59;-2.61	4.39	1.03	0.20045	.	0.217968	0.23517	N	0.047326	D	0.90397	0.6994	M	0.65975	2.015	0.09310	N	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.64877	0.853;0.93;0.93	T	0.81326	-0.0983	10	0.87932	D	0	.	3.5333	0.07785	0.0942:0.1685:0.5632:0.1742	.	132;132;132	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	D	132	ENSP00000441229:G132D;ENSP00000334563:G132D;ENSP00000386096:G132D	ENSP00000334563:G132D	G	+	2	0	MYO18B	24494278	0.027000	0.19231	0.000000	0.03702	0.186000	0.23388	2.398000	0.44486	0.117000	0.18138	0.484000	0.47621	GGC		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26243488	26243488	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:26243488A>T	ENST00000407587.2	+	20	3816	c.3647A>T	c.(3646-3648)gAa>gTa	p.E1216V	MYO18B_ENST00000536101.1_Missense_Mutation_p.E1215V|MYO18B_ENST00000335473.7_Missense_Mutation_p.E1215V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1215	GPA. {ECO:0000255}.|Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1216V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTGGGCAGGAATCTCCACCA	0.592																																					p.E1215V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3644T	22						.						26.0	28.0	28.0					22																	26243488		1999	4173	6172	24573488	SO:0001583	missense	84700	exon20			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3647A>T	22.37:g.26243488A>T	ENSP00000386096:p.Glu1216Val	Somatic		Capture	Illumina HiSeq	Phase_I	24573488	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	A	1.694	-0.503187	0.04261	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87029	-2.18;-2.18;-2.2	4.41	-3.05	0.05396	Myosin head, motor domain (1);	0.824124	0.10748	N	0.638666	T	0.67961	0.2949	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20780	0.003;0.048;0.039;0.039	B;B;B;B	0.18871	0.003;0.023;0.014;0.014	T	0.55515	-0.8129	10	0.33940	T	0.23	.	4.4218	0.11484	0.4086:0.3169:0.2745:0.0	.	728;1215;1216;1215	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1215;1215;1216	ENSP00000441229:E1215V;ENSP00000334563:E1215V;ENSP00000386096:E1216V	ENSP00000334563:E1215V	E	+	2	0	MYO18B	24573488	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.029000	0.13666	-0.088000	0.12506	-0.375000	0.07067	GAA		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26422611	26422611	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:26422611C>A	ENST00000407587.2	+	43	6843	c.6674C>A	c.(6673-6675)gCt>gAt	p.A2225D	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2224D|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2224D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2224						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2225D(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTAGAACCTGCTTCCTCTCCC	0.567																																					p.A2224D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6671A	22						.						29.0	32.0	31.0					22																	26422611		1928	4121	6049	24752611	SO:0001583	missense	84700	exon43			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6674C>A	22.37:g.26422611C>A	ENSP00000386096:p.Ala2225Asp	Somatic		Capture	Illumina HiSeq	Phase_I	24752611	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.40|10.40	1.340167|1.340167	0.24339|0.24339	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87179|.	-2.2;-2.2;-2.22|.	4.07|4.07	-2.95|-2.95	0.05564|0.05564	.|.	2.130060|.	0.02702|.	N|.	0.111848|.	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;P|.	0.34757|.	0.144;0.337;0.337;0.167;0.467|.	B;B;B;B;B|.	0.29176|.	0.069;0.046;0.046;0.029;0.099|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.13853|.	T|.	0.58|.	.|.	5.6931|5.6931	0.17841|0.17841	0.0:0.3916:0.1554:0.4531|0.0:0.3916:0.1554:0.4531	.|.	1737;2226;2224;2225;2224|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2224;2224;2225|174	ENSP00000441229:A2224D;ENSP00000334563:A2224D;ENSP00000386096:A2225D|.	ENSP00000334563:A2224D|.	A|L	+|+	2|1	0|0	MYO18B|MYO18B	24752611|24752611	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.533000|-1.533000	0.02215|0.02215	-0.849000|-0.849000	0.04158|0.04158	-0.216000|-0.216000	0.12614|0.12614	GCT|CTT		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	broad.mit.edu	37	22	26688897	26688897	+	Missense_Mutation	SNP	C	C	T	rs200293457		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:26688897C>T	ENST00000248933.6	+	2	715	c.620C>T	c.(619-621)tCg>tTg	p.S207L	SEZ6L_ENST00000404234.3_Missense_Mutation_p.S207L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S207L|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S207L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S207L|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	207					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S207L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCTTCACTTCGCAGCCCTAT	0.662																																					p.S207L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C620T	22						.						53.0	57.0	56.0					22																	26688897		2201	4293	6494	25018897	SO:0001583	missense	23544	exon2			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.620C>T	22.37:g.26688897C>T	ENSP00000248933:p.Ser207Leu	Somatic		Capture	Illumina HiSeq	Phase_I	25018897	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659530	0.29515	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29655	1.82;1.93;2.0;1.82;1.56	4.49	4.49	0.54785	.	0.387872	0.18853	N	0.129344	T	0.14830	0.0358	N	0.08118	0	0.19945	N	0.999948	B;B;B;B;B;B	0.21309	0.004;0.01;0.054;0.025;0.01;0.01	B;B;B;B;B;B	0.12156	0.001;0.001;0.004;0.007;0.001;0.001	T	0.08006	-1.0743	10	0.42905	T	0.14	.	7.4189	0.27061	0.1661:0.7452:0.0:0.0887	.	207;207;207;207;207;207	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	L	207	ENSP00000384772:S207L;ENSP00000437037:S207L;ENSP00000354185:S207L;ENSP00000248933:S207L;ENSP00000342661:S207L	ENSP00000248933:S207L	S	+	2	0	SEZ6L	25018897	0.001000	0.12720	0.606000	0.28943	0.694000	0.40290	0.781000	0.26774	2.216000	0.71823	0.508000	0.49915	TCG		0.662	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
TFIP11	24144	broad.mit.edu	37	22	26892044	26892044	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:26892044T>C	ENST00000407690.1	-	12	2127	c.1844A>G	c.(1843-1845)aAg>aGg	p.K615R	TFIP11_ENST00000407431.1_Missense_Mutation_p.K615R|TFIP11_ENST00000407148.1_Missense_Mutation_p.K615R|TFIP11_ENST00000405938.1_Missense_Mutation_p.K615R	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	615					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.K615R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTTACCCAGCTTGGGCACTAT	0.517																																					p.K615R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1844G	22						.						236.0	244.0	241.0					22																	26892044		2203	4300	6503	25222044	SO:0001583	missense	24144	exon12			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1844A>G	22.37:g.26892044T>C	ENSP00000384421:p.Lys615Arg	Somatic		Capture	Illumina HiSeq	Phase_I	25222044	NM_012143	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890015	0.91889	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.39	5.39	0.77823	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.88570	2.965	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.73736	-0.3889	10	0.32370	T	0.25	-51.4039	14.7527	0.69540	0.0:0.0:0.0:1.0	.	615	Q9UBB9	TFP11_HUMAN	R	615;615;615;300;615	ENSP00000384421:K615R;ENSP00000383892:K615R;ENSP00000385861:K615R;ENSP00000384297:K615R	ENSP00000384297:K615R	K	-	2	0	TFIP11	25222044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.578000	0.82498	2.263000	0.75096	0.533000	0.62120	AAG		0.517	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	
EMID1	129080	broad.mit.edu	37	22	29629457	29629457	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:29629457G>A	ENST00000404820.3	+	9	1040	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	EMID1_ENST00000404755.3_Splice_Site_p.G305S|EMID1_ENST00000334018.6_Splice_Site_p.G305S|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	303	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.G305S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGGGCCCATGGGTAAGTTGAG	0.592																																					p.G305S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913A	22						.						110.0	117.0	115.0					22																	29629457		2203	4300	6503	27959457	SO:0001630	splice_region_variant	129080	exon9			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.913+1G>A	22.37:g.29629457G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27959457	NM_133455	B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.359054|5.359054	0.95854|0.95854	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000334018;ENST00000404755;ENST00000404820|ENST00000433143	D;D;D|.	0.99329|.	-5.75;-5.75;-5.75|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.346219|.	0.20745|.	N|.	0.086474|.	D|.	0.85483|.	0.5707|.	M|M	0.93462|0.93462	3.42|3.42	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D;D|.	0.89917|.	0.997;1.0;0.997;0.996|.	D;D;D;P|.	0.91635|.	0.934;0.999;0.934;0.891|.	D|.	0.89017|.	0.3432|.	10|.	0.87932|.	D|.	0|.	-5.9961|-5.9961	14.5556|14.5556	0.68100|0.68100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	305;305;303;305|.	B0QYK4;B0QYK5;Q96A84;Q96A84-3|.	.;.;EMID1_HUMAN;.|.	S|X	305|167	ENSP00000335481:G305S;ENSP00000385414:G305S;ENSP00000384452:G305S|.	ENSP00000335481:G305S|.	G|W	+|+	1|3	0|0	EMID1|EMID1	27959457|27959457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	3.044000|3.044000	0.49830|0.49830	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.592	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455	Missense_Mutation
LIMK2	3985	broad.mit.edu	37	22	31663853	31663853	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:31663853A>G	ENST00000331728.4	+	10	1334	c.1220A>G	c.(1219-1221)tAc>tGc	p.Y407C	LIMK2_ENST00000406516.1_Missense_Mutation_p.Y329C|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y161C|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y386C|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y386C	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.Y407C(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGACAGAGTACATTGAGGGG	0.537																																					p.Y407C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1220G	22						.						87.0	77.0	81.0					22																	31663853		2203	4300	6503	29993853	SO:0001583	missense	3985	exon10			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1220A>G	22.37:g.31663853A>G	ENSP00000332687:p.Tyr407Cys	Somatic		Capture	Illumina HiSeq	Phase_I	29993853	NM_005569	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	17.83	3.484991	0.63962	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122489	0.56097	D	0.000022	D	0.96043	0.8711	M	0.89353	3.025	0.45129	D	0.998141	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.999	D;D;D;D;D	0.72075	0.959;0.967;0.976;0.976;0.946	D	0.96348	0.9256	10	0.87932	D	0	-25.0797	10.2166	0.43173	0.852:0.0:0.0:0.148	.	439;386;161;407;329	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	C	329;161;407;439;386;386	ENSP00000384602:Y329C;ENSP00000409522:Y161C;ENSP00000332687:Y407C;ENSP00000330470:Y386C;ENSP00000339916:Y386C	ENSP00000332687:Y407C	Y	+	2	0	LIMK2	29993853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.288000	0.43514	2.123000	0.65237	0.533000	0.62120	TAC		0.537	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
SFI1	9814	broad.mit.edu	37	22	31924836	31924836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:31924836G>T	ENST00000400288.2	+	3	358	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000540643.1_Nonsense_Mutation_p.E85*|SFI1_ENST00000432498.1_Nonsense_Mutation_p.E85*|SFI1_ENST00000414585.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	85					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.E85*(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCGGTTAAGAGAACTGCGCAT	0.478																																					p.E85X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G253T	22						.						93.0	87.0	89.0					22																	31924836		1970	4178	6148	30254836	SO:0001587	stop_gained	9814	exon3			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.253G>T	22.37:g.31924836G>T	ENSP00000383145:p.Glu85*	Somatic		Capture	Illumina HiSeq	Phase_I	30254836	NM_014775	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494271	0.64186	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000421060;ENST00000400288;ENST00000450787	.	.	.	4.26	4.26	0.50523	.	0.062534	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4778	0.55825	0.0:0.0:1.0:0.0	.	.	.	.	X	85;85;85;85;36	.	ENSP00000383145:E85X	E	+	1	0	SFI1	30254836	1.000000	0.71417	0.751000	0.31187	0.269000	0.26545	4.020000	0.57189	2.663000	0.90544	0.585000	0.79938	GAA		0.478	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
C22orf24	25775	broad.mit.edu	37	22	32333978	32333978	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:32333978C>A	ENST00000248984.3	-	2	241	c.75G>T	c.(73-75)aaG>aaT	p.K25N	C22orf24_ENST00000543051.1_Missense_Mutation_p.K92N|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	25						integral component of membrane (GO:0016021)		p.K25N(1)		central_nervous_system(1)|urinary_tract(1)	2						TCATTACCTTCTTCGCTCCAG	0.453																																					p.K25N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	22						.						182.0	189.0	187.0					22																	32333978		2029	4208	6237	30663978	SO:0001583	missense	25775	exon2				CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.75G>T	22.37:g.32333978C>A	ENSP00000248984:p.Lys25Asn	Somatic		Capture	Illumina HiSeq	Phase_I	30663978	NM_015372	B2RCT4|Q5K3R1	Missense_Mutation	SNP	ENST00000248984.3	37	CCDS46693.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480730	0.26598	.	.	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.46063	0.88;0.88	3.52	-1.62	0.08372	.	1.245840	0.06111	N	0.667146	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.16289	0.015	T	0.21348	-1.0248	10	0.87932	D	0	.	0.1884	0.00131	0.2333:0.2921:0.1861:0.2885	.	25	Q9Y442	CV024_HUMAN	N	25;92	ENSP00000248984:K25N;ENSP00000437643:K92N	ENSP00000248984:K25N	K	-	3	2	C22orf24	30663978	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.101000	0.10973	-0.229000	0.09854	0.655000	0.94253	AAG		0.453	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372	
RFPL2	10739	broad.mit.edu	37	22	32586804	32586804	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:32586804G>A	ENST00000400237.1	-	5	2027	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.N303N|RFPL2_ENST00000400236.3_Silent_p.N274N|RFPL2_ENST00000248983.4_Silent_p.N274N			O75678	RFPL2_HUMAN	ret finger protein-like 2	364							zinc ion binding (GO:0008270)	p.N274N(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TAGTGCCTGAGTTCATCAAAG	0.483																																					p.N274N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	22						.						68.0	82.0	77.0					22																	32586804		2180	4284	6464	30916804	SO:0001819	synonymous_variant	10739	exon4			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1092C>T	22.37:g.32586804G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30916804	NM_001159545		Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.483	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
LARGE	9215	broad.mit.edu	37	22	33679274	33679274	+	Silent	SNP	G	G	A	rs369773678		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:33679274G>A	ENST00000354992.2	-	14	2362	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	LARGE_ENST00000452586.2_Silent_p.F396F|LARGE_ENST00000437602.2_Intron|LARGE_ENST00000402320.1_Silent_p.F545F|LARGE_ENST00000337431.2_Silent_p.F545F|LARGE_ENST00000397394.2_Silent_p.F597F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	597					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.F597F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCAGTGTCTCGAACGCGGGGA	0.542																																					p.F597F	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1791T	22						.	G	,	0,4406		0,0,2203	131.0	113.0	119.0		1791,1791	-6.5	0.1	22		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	LARGE	NM_004737.4,NM_133642.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	597/757,597/757	33679274	2,13004	2203	4300	6503	32009274	SO:0001819	synonymous_variant	9215	exon13			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1791C>T	22.37:g.33679274G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32009274	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	CCDS13912.1																																																																																				0.542	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
RBFOX2	23543	broad.mit.edu	37	22	36164337	36164337	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:36164337T>C	ENST00000438146.2	-	6	722	c.723A>G	c.(721-723)ttA>ttG	p.L241L	RBFOX2_ENST00000449924.2_Silent_p.L170L|RBFOX2_ENST00000359369.4_Silent_p.L150L|RBFOX2_ENST00000262829.7_Silent_p.L152L|RBFOX2_ENST00000405409.2_Silent_p.L171L|RBFOX2_ENST00000414461.2_Silent_p.L170L|RBFOX2_ENST00000416721.2_Silent_p.L170L|RBFOX2_ENST00000397303.2_Silent_p.L151L	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	180					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L171L(1)		endometrium(4)|large_intestine(7)|lung(7)	18						CGGTGCCGTGTAATTTCTCCC	0.453																																					p.L240L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A720G	22						.						185.0	167.0	173.0					22																	36164337		2203	4300	6503	34494283	SO:0001819	synonymous_variant	23543	exon6			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.723A>G	22.37:g.36164337T>C		Somatic		Capture	Illumina HiSeq	Phase_I	34494283	NM_001082579	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Silent	SNP	ENST00000438146.2	37	CCDS43013.1																																																																																				0.453	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3		
APOL3	80833	broad.mit.edu	37	22	36537519	36537519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:36537519C>T	ENST00000349314.2	-	3	975	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	APOL3_ENST00000361710.2_Missense_Mutation_p.R113Q|APOL3_ENST00000424878.2_Missense_Mutation_p.R113Q|APOL3_ENST00000397287.2_Missense_Mutation_p.R113Q|APOL3_ENST00000397293.2_Missense_Mutation_p.R242Q|APOL3_ENST00000487423.1_5'Flank	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	313					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)	p.R242Q(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGCTGAGATTCGCCAGGTGGT	0.567																																					p.R113Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338A	22						.						52.0	51.0	51.0					22																	36537519		2203	4300	6503	34867465	SO:0001583	missense	80833	exon5			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.938G>A	22.37:g.36537519C>T	ENSP00000344577:p.Arg313Gln	Somatic		Capture	Illumina HiSeq	Phase_I	34867465	NM_145641	B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284847	0.23392	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	3.84	-7.68	0.01268	.	1.151080	0.06653	N	0.763088	T	0.01800	0.0057	N	0.12746	0.255	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.41716	-0.9493	10	0.27785	T	0.31	.	3.6484	0.08194	0.0992:0.3779:0.2973:0.2257	.	313;242	O95236;O95236-2	APOL3_HUMAN;.	Q	242;113;313;113;113	ENSP00000380461:R242Q;ENSP00000415779:R113Q;ENSP00000344577:R313Q;ENSP00000355164:R113Q;ENSP00000380456:R113Q	ENSP00000344577:R313Q	R	-	2	0	APOL3	34867465	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.617000	0.00109	-3.431000	0.00164	-0.534000	0.04291	CGA		0.567	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641	
MYH9	4627	broad.mit.edu	37	22	36680547	36680547	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:36680547C>T	ENST00000216181.5	-	39	5724	c.5494G>A	c.(5494-5496)Gca>Aca	p.A1832T	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1832					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.A1832T(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGCAGGCTGCCTGGCGCTCC	0.622			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.A1832T			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5494A	22						.						107.0	69.0	82.0					22																	36680547		2203	4300	6503	35010493	SO:0001583	missense	4627	exon39	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5494G>A	22.37:g.36680547C>T	ENSP00000216181:p.Ala1832Thr	Somatic		Capture	Illumina HiSeq	Phase_I	35010493	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282571	0.40394	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.77750	-1.12	4.7	4.7	0.59300	Myosin tail (1);Regulator of G protein signalling superfamily (1);	0.508870	0.19382	N	0.115636	T	0.69646	0.3134	L	0.41415	1.275	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.68168	-0.5480	10	0.62326	D	0.03	.	11.2051	0.48765	0.0:0.9146:0.0:0.0854	.	1832	P35579	MYH9_HUMAN	T	1254;434;1832	ENSP00000216181:A1832T	ENSP00000216181:A1832T	A	-	1	0	MYH9	35010493	0.999000	0.42202	1.000000	0.80357	0.909000	0.53808	1.325000	0.33724	2.144000	0.66660	0.460000	0.39030	GCA		0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
MYH9	4627	broad.mit.edu	37	22	36695083	36695083	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:36695083C>A	ENST00000216181.5	-	24	3212	c.2982G>T	c.(2980-2982)aaG>aaT	p.K994N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	994					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.K994N(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCAGCAGTTTCTTTTCCTGGG	0.507			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.K994N			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2982T	22						.						193.0	168.0	176.0					22																	36695083		2203	4300	6503	35025029	SO:0001583	missense	4627	exon24	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2982G>T	22.37:g.36695083C>A	ENSP00000216181:p.Lys994Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35025029	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790205	0.50102	.	.	ENSG00000100345	ENST00000216181	D	0.88277	-2.36	5.84	2.64	0.31445	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	H	0.96015	3.755	0.80722	D	1	D	0.67145	0.996	D	0.69307	0.963	D	0.94429	0.7648	10	0.87932	D	0	.	8.8462	0.35172	0.0:0.7176:0.0:0.2824	.	994	P35579	MYH9_HUMAN	N	994	ENSP00000216181:K994N	ENSP00000216181:K994N	K	-	3	2	MYH9	35025029	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.755000	0.38379	0.814000	0.34374	0.561000	0.74099	AAG		0.507	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
EIF3D	8664	broad.mit.edu	37	22	36919318	36919318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:36919318G>A	ENST00000216190.8	-	6	773	c.403C>T	c.(403-405)Cga>Tga	p.R135*	EIF3D_ENST00000405442.1_Nonsense_Mutation_p.R135*|EIF3D_ENST00000541106.1_Nonsense_Mutation_p.R86*	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.R135*(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TTCTGCAGTCGAATGCGTTCT	0.423																																					p.R135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C403T	22						.						173.0	171.0	172.0					22																	36919318		2203	4300	6503	35249264	SO:0001587	stop_gained	8664	exon6			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.403C>T	22.37:g.36919318G>A	ENSP00000216190:p.Arg135*	Somatic		Capture	Illumina HiSeq	Phase_I	35249264	NM_003753		Nonsense_Mutation	SNP	ENST00000216190.8	37	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793603	0.96952	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4128	14.7059	0.69189	0.0:0.0:0.855:0.145	.	.	.	.	X	135;135;86;135;135;135;135	.	ENSP00000216190:R135X	R	-	1	2	EIF3D	35249264	1.000000	0.71417	0.991000	0.47740	0.695000	0.40330	6.821000	0.75272	2.793000	0.96121	0.655000	0.94253	CGA		0.423	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1		
GTPBP1	9567	broad.mit.edu	37	22	39112906	39112906	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:39112906G>A	ENST00000216044.5	+	4	968	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	245	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.T245T(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AGAAGTCCACGAAAGTCATTA	0.522																																					p.T245T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G735A	22						.						116.0	97.0	104.0					22																	39112906		2203	4300	6503	37442852	SO:0001819	synonymous_variant	9567	exon4			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.735G>A	22.37:g.39112906G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37442852	NM_004286	Q6IC67	Silent	SNP	ENST00000216044.5	37	CCDS13977.2																																																																																				0.522	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286	
NPTXR	23467	broad.mit.edu	37	22	39218698	39218698	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:39218698A>G	ENST00000333039.2	-	5	1542	c.1419T>C	c.(1417-1419)ctT>ctC	p.L473L		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	473	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.L473L(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTTCCCAGGGAAGGACGTTGC	0.612																																					p.L473L	Pancreas(139;2521 3281 36965)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1419C	22						.						60.0	42.0	48.0					22																	39218698		2203	4300	6503	37548644	SO:0001819	synonymous_variant	23467	exon5			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1419T>C	22.37:g.39218698A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37548644	NM_014293		Silent	SNP	ENST00000333039.2	37	CCDS33647.1																																																																																				0.612	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293	
APOBEC3C	27350	broad.mit.edu	37	22	39414354	39414354	+	Nonsense_Mutation	SNP	C	C	T	rs201889908		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:39414354C>T	ENST00000361441.4	+	4	815	c.535C>T	c.(535-537)Cga>Tga	p.R179*	APOBEC3D_ENST00000381568.4_Intron|APOBEC3D_ENST00000216099.8_5'Flank	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	179					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R179*(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AACCAACTTTCGACTTCTGAA	0.463																																					p.R179X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C535T	22						.						172.0	183.0	180.0					22																	39414354		2203	4300	6503	37744300	SO:0001587	stop_gained	27350	exon4			AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"""Apolipoprotein B mRNA editing enzymes"""	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.535C>T	22.37:g.39414354C>T	ENSP00000355340:p.Arg179*	Somatic		Capture	Illumina HiSeq	Phase_I	37744300	NM_014508	B2R884|Q5JZ92|Q7Z2N7|Q96F12	Nonsense_Mutation	SNP	ENST00000361441.4	37	CCDS13983.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.625380	0.46840	.	.	ENSG00000244509	ENST00000361441	.	.	.	2.01	-4.03	0.04021	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	1.59	0.02652	0.2644:0.3917:0.2098:0.1341	.	.	.	.	X	179	.	ENSP00000355340:R179X	R	+	1	2	APOBEC3C	37744300	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.602000	0.00891	-2.591000	0.00456	-0.510000	0.04470	CGA		0.463	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508	
APOBEC3F	200316	broad.mit.edu	37	22	39439083	39439083	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:39439083C>A	ENST00000308521.5	+	2	516	c.159C>A	c.(157-159)atC>atA	p.I53I	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.I53I	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	53					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I53I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ACGCAAAGATCTTTCGAGGCC	0.527																																					p.I53I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159A	22						.						73.0	64.0	67.0					22																	39439083		2203	4300	6503	37769029	SO:0001819	synonymous_variant	200316	exon2			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.159C>A	22.37:g.39439083C>A		Somatic		Capture	Illumina HiSeq	Phase_I	37769029	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	CCDS33648.1																																																																																				0.527	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	
MCHR1	2847	broad.mit.edu	37	22	41077754	41077754	+	Missense_Mutation	SNP	C	C	T	rs200535551		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:41077754C>T	ENST00000249016.4	+	2	1787	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	MCHR1_ENST00000381433.2_Missense_Mutation_p.A238V|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	364					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.A364V(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TTATACAATGCGGCCATCAGC	0.547																																					p.A364V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1091T	22						.						129.0	97.0	108.0					22																	41077754		2203	4300	6503	39407700	SO:0001583	missense	2847	exon2				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.1091C>T	22.37:g.41077754C>T	ENSP00000249016:p.Ala364Val	Somatic		Capture	Illumina HiSeq	Phase_I	39407700	NM_005297	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726448	0.30593	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.34275	1.37;1.37	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.212694	0.48286	D	0.000186	T	0.14056	0.0340	N	0.01464	-0.85	0.40544	D	0.981054	B	0.24132	0.098	B	0.24006	0.05	T	0.22382	-1.0218	10	0.21540	T	0.41	.	10.6843	0.45833	0.0:0.913:0.0:0.0869	.	364	Q99705	MCHR1_HUMAN	V	364;238	ENSP00000249016:A364V;ENSP00000370841:A238V	ENSP00000249016:A364V	A	+	2	0	MCHR1	39407700	0.158000	0.22850	0.993000	0.49108	0.989000	0.77384	2.492000	0.45311	2.756000	0.94617	0.655000	0.94253	GCG		0.547	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297	
ACO2	50	broad.mit.edu	37	22	41907894	41907894	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:41907894A>C	ENST00000216254.4	+	4	469	c.447A>C	c.(445-447)gaA>gaC	p.E149D	ACO2_ENST00000396512.3_Missense_Mutation_p.E149D	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	149					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.E149D(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TCAACCAGGAAGTTTATAATT	0.507																																					p.E149D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A447C	22						.						59.0	53.0	55.0					22																	41907894		2203	4300	6503	40237840	SO:0001583	missense	50	exon4			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.447A>C	22.37:g.41907894A>C	ENSP00000216254:p.Glu149Asp	Somatic		Capture	Illumina HiSeq	Phase_I	40237840	NM_001098	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.605853	0.66445	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.79653	-1.29;-1.29	5.55	4.46	0.54185	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.091774	0.85682	D	0.000000	T	0.80909	0.4714	M	0.78916	2.43	0.58432	D	0.999998	P;B	0.35793	0.521;0.176	B;B	0.42319	0.383;0.106	T	0.82358	-0.0497	10	0.87932	D	0	.	5.8309	0.18581	0.8251:0.0:0.1749:0.0	.	149;149	A2A274;Q99798	.;ACON_HUMAN	D	130;149;149	ENSP00000216254:E149D;ENSP00000379769:E149D	ENSP00000216254:E149D	E	+	3	2	ACO2	40237840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.045000	0.49838	2.107000	0.64212	0.459000	0.35465	GAA		0.507	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098	
PMM1	5372	broad.mit.edu	37	22	41974862	41974862	+	Silent	SNP	G	G	A	rs999980		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:41974862G>A	ENST00000216259.7	-	6	582	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	166					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GGGCTTCCACGAACTTCTCCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.0		0.0	False		,,,				2504	0.001				p.F166F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	22						.						75.0	68.0	71.0					22																	41974862		2203	4300	6503	40304808	SO:0001819	synonymous_variant	5372	exon6				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.498C>T	22.37:g.41974862G>A		Somatic		Capture	Illumina HiSeq	Phase_I	40304808	NM_002676	A8K003|Q92586	Silent	SNP	ENST00000216259.7	37	CCDS14020.1																																																																																				0.617	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676	
TCF20	6942	broad.mit.edu	37	22	42564698	42564698	+	Silent	SNP	C	C	T	rs370598812		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:42564698C>T	ENST00000359486.3	-	4	5980	c.5844G>A	c.(5842-5844)gcG>gcA	p.A1948A	TCF20_ENST00000335626.4_Intron|TCF20_ENST00000404876.1_Silent_p.A238A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1948					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A1948A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCTGCCTTTCGCGGTCTTGT	0.627											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		16312	0.0		0.001	False		,,,				2504	0.0				p.A1948A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5844A	22						.	C	,	0,4406		0,0,2203	38.0	34.0	35.0		5844,	-1.0	1.0	22		35	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	TCF20	NM_005650.1,NM_181492.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1948/1961,	42564698	1,13005	2203	4300	6503	40894642	SO:0001819	synonymous_variant	6942	exon4			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5844G>A	22.37:g.42564698C>T		Somatic	909	Capture	Illumina HiSeq	Phase_I	40894642	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.627	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
TCF20	6942	broad.mit.edu	37	22	42607756	42607756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:42607756C>A	ENST00000359486.3	-	1	3692	c.3556G>T	c.(3556-3558)Gaa>Taa	p.E1186*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.E1186*|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1186	Leucine-zipper.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1186*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAACAGGATTCTTGTAACTTC	0.532																																					p.E1186X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3556T	22						.						68.0	67.0	67.0					22																	42607756		2203	4300	6503	40937700	SO:0001587	stop_gained	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3556G>T	22.37:g.42607756C>A	ENSP00000352463:p.Glu1186*	Somatic		Capture	Illumina HiSeq	Phase_I	40937700	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Nonsense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	44	10.707625	0.99454	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	.	.	.	5.49	5.49	0.81192	.	0.153654	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.3934	19.3844	0.94551	0.0:1.0:0.0:0.0	.	.	.	.	X	1186	.	ENSP00000335561:E1186X	E	-	1	0	TCF20	40937700	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	5.311000	0.65786	2.579000	0.87056	0.650000	0.86243	GAA		0.532	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
A4GALT	53947	broad.mit.edu	37	22	43088986	43088986	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:43088986C>T	ENST00000401850.1	-	2	1461	c.972G>A	c.(970-972)acG>acA	p.T324T	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.T324T|A4GALT_ENST00000381278.3_Silent_p.T324T			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	324					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.T324T(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CCTCGAACCGCGTGCCCTGGC	0.627																																					p.T324T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G972A	22						.						70.0	61.0	64.0					22																	43088986		2203	4300	6503	41418930	SO:0001819	synonymous_variant	53947	exon3				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.972G>A	22.37:g.43088986C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41418930	NM_017436	B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	CCDS14041.1																																																																																				0.627	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436	
MPPED1	758	broad.mit.edu	37	22	43831104	43831104	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:43831104G>A	ENST00000417669.2	+	3	819	c.375G>A	c.(373-375)ccG>ccA	p.P125P	MPPED1_ENST00000414469.2_Silent_p.P19P|MPPED1_ENST00000443721.1_Silent_p.P125P|MPPED1_ENST00000538182.1_Silent_p.P158P|MPPED1_ENST00000542779.1_Silent_p.P125P|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	125							hydrolase activity (GO:0016787)	p.P125P(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TGGGGCTCCCGAGCGAGGTGA	0.672																																					p.P125P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G375A	22						.						52.0	60.0	57.0					22																	43831104		2024	4167	6191	42161048	SO:0001819	synonymous_variant	758	exon3			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.375G>A	22.37:g.43831104G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42161048	NM_001044370	A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	CCDS46723.1																																																																																				0.672	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370	
PNPLA3	80339	broad.mit.edu	37	22	44323033	44323033	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:44323033G>T	ENST00000216180.3	+	2	579	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	PNPLA3_ENST00000423180.2_Missense_Mutation_p.D132Y|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	136	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.D136Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TCGGTCCAAAGACGAAGTCGT	0.512																																					p.D136Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406T	22						.						70.0	61.0	64.0					22																	44323033		2203	4300	6503	42654366	SO:0001583	missense	80339	exon2				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.406G>T	22.37:g.44323033G>T	ENSP00000216180:p.Asp136Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	42654366	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873813	0.51695	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.59502	0.26;0.26	5.6	2.05	0.26809	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.779066	0.11591	N	0.548748	T	0.77280	0.4107	M	0.84219	2.685	0.43018	D	0.994561	D	0.89917	1.0	D	0.70487	0.969	T	0.79664	-0.1709	10	0.87932	D	0	-6.0489	15.1453	0.72647	0.0:0.4024:0.5976:0.0	.	136	Q9NST1	PLPL3_HUMAN	Y	136;132	ENSP00000216180:D136Y;ENSP00000397987:D132Y	ENSP00000216180:D136Y	D	+	1	0	PNPLA3	42654366	1.000000	0.71417	0.073000	0.20177	0.497000	0.33675	4.865000	0.62998	0.657000	0.30906	0.643000	0.83706	GAC		0.512	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
PNPLA3	80339	broad.mit.edu	37	22	44335929	44335929	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:44335929C>T	ENST00000216180.3	+	7	1209	c.1036C>T	c.(1036-1038)Cta>Tta	p.L346L	PNPLA3_ENST00000423180.2_Silent_p.L342L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	346					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.L346L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TTGCAACTTGCTACCCATTAG	0.443																																					p.L346L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1036T	22						.						213.0	187.0	196.0					22																	44335929		2203	4300	6503	42667262	SO:0001819	synonymous_variant	80339	exon7				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1036C>T	22.37:g.44335929C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42667262	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	CCDS14054.1																																																																																				0.443	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
KIAA1644	85352	broad.mit.edu	37	22	44681543	44681543	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:44681543C>T	ENST00000381176.4	-	4	496	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	122						integral component of membrane (GO:0016021)		p.A122T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TAGTTCATTGCCGAGTAATAC	0.547																																					p.A122T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	22						.						178.0	172.0	174.0					22																	44681543		2046	4212	6258	43012876	SO:0001583	missense	85352	exon4			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.364G>A	22.37:g.44681543C>T	ENSP00000370568:p.Ala122Thr	Somatic		Capture	Illumina HiSeq	Phase_I	43012876	NM_001099294	A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516268	0.64634	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.057839	0.64402	D	0.000002	T	0.39462	0.1079	L	0.29908	0.895	0.40643	D	0.981961	B	0.30937	0.301	B	0.27715	0.082	T	0.56202	-0.8018	8	0.56958	D	0.05	-17.52	11.2589	0.49071	0.1957:0.8043:0.0:0.0	.	122	Q3SXP7	K1644_HUMAN	T	122	.	ENSP00000370568:A122T	A	-	1	0	KIAA1644	43012876	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.387000	0.66243	2.345000	0.79718	0.561000	0.74099	GCA		0.547	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294	
PKDREJ	10343	broad.mit.edu	37	22	46654887	46654887	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:46654887T>G	ENST00000253255.5	-	1	4332	c.4333A>C	c.(4333-4335)Act>Cct	p.T1445P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1445					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.T1445P(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACAAAAAAGTTATTAATAAT	0.388																																					p.T1445P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4333C	22						.						71.0	69.0	69.0					22																	46654887		2203	4300	6503	45033551	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4333A>C	22.37:g.46654887T>G	ENSP00000253255:p.Thr1445Pro	Somatic		Capture	Illumina HiSeq	Phase_I	45033551	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735202	0.48939	.	.	ENSG00000130943	ENST00000253255	T	0.37752	1.18	4.91	2.68	0.31781	.	0.784973	0.11426	N	0.565308	T	0.30978	0.0782	L	0.48642	1.525	0.09310	N	1	P	0.50617	0.937	B	0.42851	0.4	T	0.09164	-1.0687	10	0.35671	T	0.21	-7.3599	7.6804	0.28509	0.0:0.1905:0.0:0.8095	.	1445	Q9NTG1	PKDRE_HUMAN	P	1445	ENSP00000253255:T1445P	ENSP00000253255:T1445P	T	-	1	0	PKDREJ	45033551	0.361000	0.24972	0.003000	0.11579	0.978000	0.69477	1.756000	0.38390	0.813000	0.34350	0.459000	0.35465	ACT		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46656755	46656755	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:46656755G>T	ENST00000253255.5	-	1	2464	c.2465C>A	c.(2464-2466)tCt>tAt	p.S822Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	822	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S822Y(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGTGAGGAGAAGTCATTTT	0.348																																					p.S822Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2465A	22						.						65.0	70.0	68.0					22																	46656755		2203	4300	6503	45035419	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2465C>A	22.37:g.46656755G>T	ENSP00000253255:p.Ser822Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	45035419	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630157	0.28978	.	.	ENSG00000130943	ENST00000253255	T	0.36520	1.25	5.31	-9.92	0.00455	Egg jelly receptor, REJ-like (1);	2.566620	0.01189	N	0.007297	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.37601	0.254	T	0.47761	-0.9092	10	0.56958	D	0.05	0.559	0.0935	0.00042	0.3021:0.1776:0.1903:0.33	.	822	Q9NTG1	PKDRE_HUMAN	Y	822	ENSP00000253255:S822Y	ENSP00000253255:S822Y	S	-	2	0	PKDREJ	45035419	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.056000	0.14256	-1.255000	0.02481	-0.868000	0.02995	TCT		0.348	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
BRD1	23774	broad.mit.edu	37	22	50168021	50168021	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:50168021C>T	ENST00000216267.8	-	12	3523	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	BRD1_ENST00000404760.1_Missense_Mutation_p.E1144K|BRD1_ENST00000342989.5_Missense_Mutation_p.E739K|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.E1013K|BRD1_ENST00000542442.1_Missense_Mutation_p.E701K	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1013					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.E1013K(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTATAGTTTCGTCAATACCA	0.478																																					p.E1013K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3037A	22						.						131.0	129.0	129.0					22																	50168021		2203	4300	6503	48554025	SO:0001583	missense	23774	exon12			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.3037G>A	22.37:g.50168021C>T	ENSP00000216267:p.Glu1013Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48554025	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531933	0.27387	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.89	4.89	0.63831	PWWP (1);	0.046340	0.85682	D	0.000000	T	0.15998	0.0385	N	0.04746	-0.17	0.80722	D	1	B;B;B;B	0.23442	0.044;0.085;0.044;0.027	B;B;B;B	0.14578	0.006;0.011;0.006;0.004	T	0.09207	-1.0685	10	0.09843	T	0.71	.	18.4026	0.90522	0.0:1.0:0.0:0.0	.	1144;739;1013;1144	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	K	1013;1013;1144;701;739;604	ENSP00000216267:E1013K;ENSP00000384076:E1013K;ENSP00000385858:E1144K;ENSP00000437514:E701K;ENSP00000345886:E739K	ENSP00000216267:E1013K	E	-	1	0	BRD1	48554025	1.000000	0.71417	0.328000	0.25416	0.088000	0.18126	4.266000	0.58871	2.437000	0.82529	0.655000	0.94253	GAA		0.478	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
MLC1	23209	broad.mit.edu	37	22	50500040	50500040	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:50500040C>T	ENST00000311597.5	-	12	1712	c.1106G>A	c.(1105-1107)aGa>aAa	p.R369K	MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Missense_Mutation_p.R339K|MLC1_ENST00000395876.2_Missense_Mutation_p.R369K|MLC1_ENST00000535444.1_Missense_Mutation_p.R290K|MLC1_ENST00000450140.2_Missense_Mutation_p.R317K|MLC1_ENST00000538737.1_Missense_Mutation_p.R335K	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	369					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R369K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CACGACGGCTCTCCAGGCTTT	0.637																																					p.R369K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106A	22						.						66.0	61.0	63.0					22																	50500040		2203	4300	6503	48842167	SO:0001583	missense	23209	exon12			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1106G>A	22.37:g.50500040C>T	ENSP00000310375:p.Arg369Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48842167	NM_015166	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870993	0.33069	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.92595	-3.07;-3.07;-2.96;-2.67;-2.91;-2.98	4.36	3.07	0.35406	.	0.143653	0.64402	D	0.000010	D	0.89694	0.6789	L	0.29908	0.895	0.28703	N	0.903988	D;D;D;D	0.61697	0.974;0.99;0.974;0.99	D;D;D;D	0.72982	0.969;0.979;0.969;0.979	T	0.80832	-0.1206	10	0.08381	T	0.77	-21.1865	5.3459	0.16008	0.0:0.8043:0.0:0.1957	.	335;339;317;369	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	K	369;369;335;339;290;317	ENSP00000379216:R369K;ENSP00000310375:R369K;ENSP00000445805:R335K;ENSP00000415877:R339K;ENSP00000438910:R290K;ENSP00000412448:R317K	ENSP00000310375:R369K	R	-	2	0	MLC1	48842167	1.000000	0.71417	0.973000	0.42090	0.423000	0.31445	3.638000	0.54332	2.113000	0.64589	0.563000	0.77884	AGA		0.637	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166	
MOV10L1	54456	broad.mit.edu	37	22	50547198	50547198	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:50547198T>C	ENST00000262794.5	+	5	751	c.668T>C	c.(667-669)gTc>gCc	p.V223A	MOV10L1_ENST00000545383.1_Missense_Mutation_p.V223A|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V203A|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.V223A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	223					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.V223A(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACGTGGTCAATGCAGTG	0.527																																					p.V223A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T668C	22						.						128.0	111.0	117.0					22																	50547198		2203	4300	6503	48889325	SO:0001583	missense	54456	exon5			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.668T>C	22.37:g.50547198T>C	ENSP00000262794:p.Val223Ala	Somatic		Capture	Illumina HiSeq	Phase_I	48889325	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	t	32	5.113636	0.94339	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.32	5.32	0.75619	.	0.058578	0.64402	D	0.000002	T	0.68760	0.3036	M	0.83603	2.65	0.80722	D	1	P;P;P	0.47034	0.889;0.646;0.646	P;B;B	0.53809	0.735;0.419;0.419	T	0.74518	-0.3639	10	0.72032	D	0.01	-29.9206	14.3326	0.66566	0.0:0.0:0.0:1.0	.	203;223;223	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	A	223;223;223;203	ENSP00000438978:V223A;ENSP00000262794:V223A;ENSP00000379199:V223A;ENSP00000438542:V203A	ENSP00000262794:V223A	V	+	2	0	MOV10L1	48889325	1.000000	0.71417	0.548000	0.28192	0.380000	0.30137	7.139000	0.77314	2.021000	0.59480	0.515000	0.50301	GTC		0.527	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50599252	50599252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:50599252C>T	ENST00000262794.5	+	25	3543	c.3460C>T	c.(3460-3462)Cga>Tga	p.R1154*	MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R1154*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R1134*|MOV10L1_ENST00000395852.1_Nonsense_Mutation_p.R281*|MOV10L1_ENST00000395858.3_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1154					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.R1154*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTTCTCGTTCGAGTGAGTTT	0.507																																					p.R1134X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3400T	22						.						102.0	106.0	105.0					22																	50599252		2203	4300	6503	48941379	SO:0001587	stop_gained	54456	exon25			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3460C>T	22.37:g.50599252C>T	ENSP00000262794:p.Arg1154*	Somatic		Capture	Illumina HiSeq	Phase_I	48941379	NM_001164105	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	40	8.329649	0.98762	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000540615;ENST00000395852	.	.	.	5.68	3.55	0.40652	.	0.335472	0.33938	N	0.004414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-7.2934	11.9521	0.52961	0.6616:0.3384:0.0:0.0	.	.	.	.	X	1154;1154;1134;281	.	ENSP00000262794:R1154X	R	+	1	2	MOV10L1	48941379	1.000000	0.71417	0.100000	0.21137	0.334000	0.28698	2.133000	0.42093	0.471000	0.27319	0.643000	0.83706	CGA		0.507	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
CPT1B	1375	broad.mit.edu	37	22	51012109	51012109	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr22:51012109C>T	ENST00000360719.2	-	10	1143	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	CPT1B_ENST00000312108.7_Missense_Mutation_p.A336T|CPT1B_ENST00000434492.2_Missense_Mutation_p.A133T|CPT1B_ENST00000395650.2_Missense_Mutation_p.A336T|CPT1B_ENST00000457250.1_Missense_Mutation_p.A302T|CPT1B_ENST00000405237.3_Missense_Mutation_p.A336T|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.A336T	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	336					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.A336T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGTAGACAGCCACGTGCCGG	0.612																																					p.A336T	Esophageal Squamous(170;988 1933 25577 30295 48163)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006A	22						.						33.0	30.0	31.0					22																	51012109		2203	4300	6503	49358975	SO:0001583	missense	1375	exon10			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1006G>A	22.37:g.51012109C>T	ENSP00000353945:p.Ala336Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49358975	NM_152246	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680915	0.47886	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.88975	-2.45;-2.45;-2.45;-1.39;-2.45;-1.39;-2.45	4.94	4.94	0.65067	.	0.557820	0.20496	N	0.091189	D	0.89121	0.6625	L	0.49640	1.575	0.28164	N	0.928867	P;B;B;B	0.48911	0.917;0.139;0.433;0.433	P;B;P;B	0.51701	0.677;0.423;0.561;0.375	D	0.84458	0.0592	10	0.62326	D	0.03	-5.3706	10.7386	0.46139	0.1898:0.8102:0.0:0.0	.	336;302;133;336	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	T	336;336;336;302;336;133;336	ENSP00000385486:A336T;ENSP00000312189:A336T;ENSP00000353945:A336T;ENSP00000409342:A302T;ENSP00000414713:A336T;ENSP00000410966:A133T;ENSP00000379011:A336T	ENSP00000312189:A336T	A	-	1	0	CPT1B	49358975	0.963000	0.33076	0.994000	0.49952	0.582000	0.36321	2.604000	0.46274	2.582000	0.87167	0.555000	0.69702	GCT		0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
COL3A1	1281	broad.mit.edu	37	2	189868755	189868756	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:189868755_189868756insC	ENST00000304636.3	+	39	2879_2880	c.2709_2710insC	c.(2710-2712)cccfs	p.P904fs	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	904	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G906fs*5(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GCAAGGATGGGCCCCCAGGTCC	0.52																																					p.G903fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2709_2710insC	2						.																																			189577001	SO:0001589	frameshift_variant	1281	exon39			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2714dupC	2.37:g.189868760_189868760dupC	ENSP00000304408:p.Pro904fs	Somatic		Capture	Illumina HiSeq	Phase_I	189577000	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Ins	INS	ENST00000304636.3	37	CCDS2297.1																																																																																				0.520	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
MYO7B	4648	broad.mit.edu	37	2	128394877	128394878	+	Intron	INS	-	-	T	rs56272236|rs3217355	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:128394877_128394878insT	ENST00000409816.2	+	46	6281				LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Intron|MYO7B_ENST00000428314.1_Intron|MYO7B_ENST00000409090.1_Intron			Q6PIF6	MYO7B_HUMAN	myosin VIIB							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGACCCCCCCGTCCCCTGTCC	0.624														1596	0.31869	0.6362	0.245	5008	,	,		16831	0.0685		0.2525	False		,,,				2504	0.2679				.												.	.	0			.	2						.			3230,10,492		1425,9,371,0,1,60						-0.1	0.0		dbSNP_130	24	4394,5,3501		1291,1,1811,1,2,844	no	intron	MYO7B	NM_001080527.1		2716,10,2182,1,3,904	A1A1,A1A2,A1R,A2A2,A2R,RR		44.3797,13.4512,34.4567				7624,15,3993				128111348	SO:0001627	intron_variant	4648	.				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6250-13->T	2.37:g.128394877_128394878insT		Somatic		Capture	Illumina HiSeq	Phase_I	128111347	.	Q14786|Q8TEE1	Frame_Shift_Ins	INS	ENST00000409816.2	37	CCDS46405.1																																																																																				0.624	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
LONRF2	164832	broad.mit.edu	37	2	100900770	100900770	+	Missense_Mutation	SNP	C	C	A	rs140410536		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:100900770C>A	ENST00000393437.3	-	12	2894	c.2255G>T	c.(2254-2256)aGa>aTa	p.R752I	LONRF2_ENST00000409647.1_Missense_Mutation_p.R509I	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	752							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.R752I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAATTATTTCTCTCCCTGGC	0.463																																					p.R752I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2255T	2						.	C	ILE/ARG	0,4396		0,0,2198	25.0	21.0	22.0		2255	4.2	0.1	2	dbSNP_134	22	1,8585		0,1,4292	no	missense	LONRF2	NM_198461.3	97	0,1,6490	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	752/755	100900770	1,12981	2198	4293	6491	100267202	SO:0001583	missense	164832	exon12			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.2255G>T	2.37:g.100900770C>A	ENSP00000377086:p.Arg752Ile	Somatic		Capture	Illumina HiSeq	Phase_I	100267202	NM_198461	B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418754	0.62622	0.0	1.16E-4	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85861	-1.88;-2.04	5.06	4.17	0.49024	.	0.436917	0.18712	N	0.133278	D	0.83811	0.5335	L	0.44542	1.39	0.09310	N	0.999999	D	0.56968	0.978	P	0.52267	0.694	T	0.76214	-0.3041	10	0.72032	D	0.01	-4.3632	8.7298	0.34491	0.0:0.832:0.0:0.168	.	752	Q1L5Z9	LONF2_HUMAN	I	752;509	ENSP00000377086:R752I;ENSP00000386823:R509I	ENSP00000377086:R752I	R	-	2	0	LONRF2	100267202	0.005000	0.15991	0.145000	0.22337	0.741000	0.42261	1.543000	0.36147	2.346000	0.79739	0.655000	0.94253	AGA		0.463	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
CHST10	9486	broad.mit.edu	37	2	101010201	101010201	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:101010201C>T	ENST00000264249.3	-	7	962	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	CHST10_ENST00000542617.1_Missense_Mutation_p.E241K|CHST10_ENST00000409701.1_Missense_Mutation_p.E193K	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	193					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.E193K(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATAAGTCTTTCGAAGGGATCT	0.393																																					p.E193K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577A	2						.						57.0	62.0	60.0					2																	101010201		2203	4300	6503	100376633	SO:0001583	missense	9486	exon7			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.577G>A	2.37:g.101010201C>T	ENSP00000264249:p.Glu193Lys	Somatic		Capture	Illumina HiSeq	Phase_I	100376633	NM_004854	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610603	0.96637	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75260	1.85;-0.92;1.85	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.88931	0.3373	10	0.66056	D	0.02	-30.4297	20.6208	0.99490	0.0:1.0:0.0:0.0	.	193	O43529	CHSTA_HUMAN	K	193;241;193	ENSP00000264249:E193K;ENSP00000438869:E241K;ENSP00000387309:E193K	ENSP00000264249:E193K	E	-	1	0	CHST10	100376633	1.000000	0.71417	0.953000	0.39169	0.957000	0.61999	7.625000	0.83145	2.882000	0.98803	0.655000	0.94253	GAA		0.393	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
TBC1D8	11138	broad.mit.edu	37	2	101624561	101624561	+	Missense_Mutation	SNP	G	G	A	rs370459788		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:101624561G>A	ENST00000376840.4	-	20	3144	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.R1064W|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1049					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R1049W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCTGAAGCCCGCAGCTCCTCC	0.632																																					p.R1049W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3145T	2						.	G	,TRP/ARG	1,4017		0,1,2008	32.0	35.0	34.0		,3145	4.4	0.6	2		34	0,8354		0,0,4177	no	intron,missense	RPL31,TBC1D8	NM_001098577.2,NM_001102426.1	,101	0,1,6185	AA,AG,GG		0.0,0.0249,0.0081	,probably-damaging	,1049/1141	101624561	1,12371	2009	4177	6186	100990993	SO:0001583	missense	11138	exon20			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3145C>T	2.37:g.101624561G>A	ENSP00000366036:p.Arg1049Trp	Somatic		Capture	Illumina HiSeq	Phase_I	100990993	NM_001102426	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730203	0.30684	2.49E-4	0.0	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03242	4.0;4.0	5.33	4.43	0.53597	.	0.775524	0.11390	N	0.568941	T	0.04227	0.0117	N	0.14661	0.345	0.09310	N	1	P	0.41102	0.738	B	0.40741	0.339	T	0.47262	-0.9131	10	0.66056	D	0.02	-6.1879	15.8864	0.79251	0.0:0.1357:0.8643:0.0	.	1049	O95759	TBCD8_HUMAN	W	1049;1064	ENSP00000366036:R1049W;ENSP00000386856:R1064W	ENSP00000366036:R1049W	R	-	1	2	TBC1D8	100990993	0.061000	0.20836	0.567000	0.28434	0.371000	0.29859	2.431000	0.44775	1.173000	0.42796	0.655000	0.94253	CGG		0.632	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
IL1R1	3554	broad.mit.edu	37	2	102781409	102781409	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:102781409G>T	ENST00000410023.1	+	4	555	c.237G>T	c.(235-237)gaG>gaT	p.E79D	IL1R1_ENST00000409929.1_Missense_Mutation_p.E79D|IL1R1_ENST00000424272.1_Missense_Mutation_p.E79D|IL1R1_ENST00000233946.3_Missense_Mutation_p.E79D|IL1R1_ENST00000409288.1_Missense_Mutation_p.E79D|IL1R1_ENST00000409589.1_Missense_Mutation_p.E79D|IL1R1_ENST00000409329.1_Missense_Mutation_p.E79D			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	79	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.E79D(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AACACAAAGAGAAACTTTGGT	0.388																																					p.E79D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	2						.						123.0	112.0	115.0					2																	102781409		2203	4300	6503	102147841	SO:0001583	missense	3554	exon3			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.237G>T	2.37:g.102781409G>T	ENSP00000386380:p.Glu79Asp	Somatic		Capture	Illumina HiSeq	Phase_I	102147841	NM_000877	Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591746	0.03799	.	.	ENSG00000115594	ENST00000452403;ENST00000409929;ENST00000424272;ENST00000409589;ENST00000409329;ENST00000450319;ENST00000442590;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;0.36;-0.25;-0.25;0.36;-0.25;-0.25;-0.25;0.36	5.63	-11.3	0.00108	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.781784	0.12769	N	0.440730	T	0.19725	0.0474	N	0.02142	-0.665	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.40701	-0.9549	10	0.05959	T	0.93	.	0.4164	0.00449	0.2196:0.1977:0.2722:0.3106	.	79;79;79	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	D	79	ENSP00000386776:E79D;ENSP00000415366:E79D;ENSP00000386555:E79D;ENSP00000387131:E79D;ENSP00000411627:E79D;ENSP00000393296:E79D;ENSP00000386478:E79D;ENSP00000386380:E79D;ENSP00000233946:E79D;ENSP00000408101:E79D	ENSP00000233946:E79D	E	+	3	2	IL1R1	102147841	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.259000	0.08721	-1.820000	0.01215	-0.976000	0.02587	GAG		0.388	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
IL1RL2	8808	broad.mit.edu	37	2	102805650	102805650	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:102805650A>C	ENST00000264257.2	+	3	299	c.173A>C	c.(172-174)aAa>aCa	p.K58T	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.K58T|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	58	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.K58T(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATGGTATAAAAATTCTAGC	0.398																																					p.K58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173C	2						.						86.0	83.0	84.0					2																	102805650		2203	4300	6503	102172082	SO:0001583	missense	8808	exon3			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.173A>C	2.37:g.102805650A>C	ENSP00000264257:p.Lys58Thr	Somatic		Capture	Illumina HiSeq	Phase_I	102172082	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.385803	0.42308	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.18810	2.19;2.19;2.19	5.86	-0.944	0.10392	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.851189	0.10888	N	0.622988	T	0.26195	0.0639	M	0.72118	2.19	0.09310	N	1	B	0.28933	0.228	B	0.39562	0.303	T	0.42548	-0.9445	10	0.48119	T	0.1	.	5.3859	0.16218	0.546:0.1422:0.3118:0.0	.	58	Q9HB29	ILRL2_HUMAN	T	58	ENSP00000264257:K58T;ENSP00000387611:K58T;ENSP00000442184:K58T	ENSP00000264257:K58T	K	+	2	0	IL1RL2	102172082	0.001000	0.12720	0.000000	0.03702	0.144000	0.21451	0.048000	0.14078	-0.292000	0.08999	0.528000	0.53228	AAA		0.398	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
IL1RL1	9173	broad.mit.edu	37	2	102968291	102968291	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:102968291C>T	ENST00000233954.1	+	11	1852	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	527	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.F527F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTCTAAATTCTGGAAGCACG	0.502																																					p.F527F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	2						.						50.0	57.0	55.0					2																	102968291		2203	4300	6503	102334723	SO:0001819	synonymous_variant	9173	exon11			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1581C>T	2.37:g.102968291C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102334723	NM_016232	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	CCDS2057.1																																																																																				0.502	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
IL18RAP	8807	broad.mit.edu	37	2	103068383	103068383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:103068383C>A	ENST00000264260.2	+	12	2131	c.1542C>A	c.(1540-1542)ttC>ttA	p.F514L	IL18RAP_ENST00000409369.1_Missense_Mutation_p.F372L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	514	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F514L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TAATTAAGTTCTGTTACTTCC	0.428																																					p.F514L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1542A	2						.						110.0	113.0	112.0					2																	103068383		2203	4300	6503	102434815	SO:0001583	missense	8807	exon12			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1542C>A	2.37:g.103068383C>A	ENSP00000264260:p.Phe514Leu	Somatic		Capture	Illumina HiSeq	Phase_I	102434815	NM_003853	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548224	0.65311	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09630	2.96;2.96	6.02	3.99	0.46301	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000001	T	0.06781	0.0173	N	0.11255	0.115	0.31385	N	0.678576	P	0.47034	0.889	P	0.49799	0.622	T	0.10337	-1.0634	10	0.10111	T	0.7	.	5.341	0.15984	0.0:0.5993:0.1459:0.2548	.	514	O95256	I18RA_HUMAN	L	514;372	ENSP00000264260:F514L;ENSP00000387201:F372L	ENSP00000264260:F514L	F	+	3	2	IL18RAP	102434815	0.234000	0.23783	0.912000	0.35992	0.971000	0.66376	0.599000	0.24089	1.297000	0.44761	0.650000	0.86243	TTC		0.428	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
TGFBRAP1	9392	broad.mit.edu	37	2	105896889	105896889	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:105896889C>A	ENST00000393359.2	-	6	1839	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E471D			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	471					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.E471D(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GACAGAAGTTCTCAGTGACCA	0.537																																					p.E471D	Esophageal Squamous(183;794 2019 9730 21801 48859)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1413T	2						.						89.0	69.0	76.0					2																	105896889		2203	4300	6503	105263321	SO:0001583	missense	9392	exon6			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1413G>T	2.37:g.105896889C>A	ENSP00000377027:p.Glu471Asp	Somatic		Capture	Illumina HiSeq	Phase_I	105263321	NM_004257	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749805	0.30955	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.44881	0.91;0.91	5.41	4.53	0.55603	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1 (1);	0.221673	0.46442	D	0.000297	T	0.38852	0.1056	M	0.65975	2.015	0.46458	D	0.999058	B	0.15719	0.014	B	0.24848	0.056	T	0.17684	-1.0361	10	0.16896	T	0.51	-33.9064	8.5954	0.33712	0.0:0.771:0.0:0.229	.	471	Q8WUH2	TGFA1_HUMAN	D	471	ENSP00000377027:E471D;ENSP00000258449:E471D	ENSP00000258449:E471D	E	-	3	2	TGFBRAP1	105263321	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.665000	0.37449	1.271000	0.44313	0.650000	0.86243	GAG		0.537	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
GCC2	9648	broad.mit.edu	37	2	109087546	109087546	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:109087546A>G	ENST00000309863.6	+	6	2475	c.1761A>G	c.(1759-1761)ggA>ggG	p.G587G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	587					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.G587G(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATTAGAAGGAAAGATAAATT	0.294																																					p.G587G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1761G	2						.						26.0	28.0	28.0					2																	109087546		1989	4184	6173	108453978	SO:0001819	synonymous_variant	9648	exon6			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1761A>G	2.37:g.109087546A>G		Somatic		Capture	Illumina HiSeq	Phase_I	108453978	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.294	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
GCC2	9648	broad.mit.edu	37	2	109092068	109092068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:109092068G>T	ENST00000309863.6	+	8	3652	c.2938G>T	c.(2938-2940)Gaa>Taa	p.E980*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	980					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E980*(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGCAAAGAAAGAACTAGATTC	0.284																																					p.E980X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2938T	2						.						20.0	24.0	22.0					2																	109092068		2188	4283	6471	108458500	SO:0001587	stop_gained	9648	exon8			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2938G>T	2.37:g.109092068G>T	ENSP00000307939:p.Glu980*	Somatic		Capture	Illumina HiSeq	Phase_I	108458500	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351632	0.95830	.	.	ENSG00000135968	ENST00000309863	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.179	0.98193	0.0:0.0:1.0:0.0	.	.	.	.	X	980	.	ENSP00000307939:E980X	E	+	1	0	GCC2	108458500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.263000	0.89864	2.847000	0.97988	0.655000	0.94253	GAA		0.284	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
RANBP2	5903	broad.mit.edu	37	2	109380968	109380968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:109380968G>T	ENST00000283195.6	+	20	4099	c.3973G>T	c.(3973-3975)Gaa>Taa	p.E1325*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1325					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1325*(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATTGTAAAAGAACCCACAAG	0.398																																					p.E1325X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3973T	2						.						70.0	72.0	71.0					2																	109380968		2203	4299	6502	108747400	SO:0001587	stop_gained	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3973G>T	2.37:g.109380968G>T	ENSP00000283195:p.Glu1325*	Somatic		Capture	Illumina HiSeq	Phase_I	108747400	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	42	9.194798	0.99096	.	.	ENSG00000153201	ENST00000283195	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-21.1811	12.4643	0.55749	0.0766:0.0:0.9234:0.0	.	.	.	.	X	1325	.	ENSP00000283195:E1325X	E	+	1	0	RANBP2	108747400	1.000000	0.71417	0.991000	0.47740	0.875000	0.50365	2.175000	0.42491	2.502000	0.84385	0.650000	0.86243	GAA		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
SH3RF3	344558	broad.mit.edu	37	2	110048996	110048996	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:110048996C>T	ENST00000309415.6	+	6	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	481	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)	p.D481D(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGAAGAGTGACGAGCTGGAGC	0.642																																					p.D481D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1443T	2						.						38.0	43.0	41.0					2																	110048996		2017	4201	6218	109415428	SO:0001819	synonymous_variant	344558	exon6			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1443C>T	2.37:g.110048996C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109415428	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37																																																																																					0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
SH3RF3	344558	broad.mit.edu	37	2	110259086	110259086	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:110259086C>T	ENST00000309415.6	+	10	2487	c.2487C>T	c.(2485-2487)cgC>cgT	p.R829R		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	829	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)	p.R829R(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCAGGTACCGCGTGGTGGTCT	0.552																																					p.R719R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2157T	2						.						49.0	52.0	51.0					2																	110259086		2108	4224	6332	109616368	SO:0001819	synonymous_variant	344558	exon9			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2487C>T	2.37:g.110259086C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109616368	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	C	8.459	0.854771	0.17106	.	.	ENSG00000172985	ENST00000444352	T	0.34072	1.38	4.93	-6.02	0.02192	.	0.000000	0.85682	U	0.000000	T	0.31765	0.0807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39014	-0.9634	7	0.87932	D	0	-29.1624	1.6129	0.02697	0.1819:0.1891:0.18:0.449	.	.	.	.	C	3	ENSP00000390685:R3C	ENSP00000390685:R3C	R	+	1	0	SH3RF3	109616368	0.000000	0.05858	0.775000	0.31657	0.827000	0.46813	-4.222000	0.00271	-1.702000	0.01411	-0.258000	0.10820	CGT		0.552	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
SEPT10	151011	broad.mit.edu	37	2	110303754	110303754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:110303754C>A	ENST00000397712.2	-	10	1600	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*	SEPT10_ENST00000545389.1_Nonsense_Mutation_p.E241*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.E408*|SEPT10_ENST00000397714.2_Nonsense_Mutation_p.E385*|SEPT10_ENST00000334001.6_Nonsense_Mutation_p.E275*|SEPT10_ENST00000356688.4_Nonsense_Mutation_p.E408*|SEPT10_ENST00000437928.1_Nonsense_Mutation_p.E393*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	408					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E385*(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CTTCTCTTTTCTTCAAGCTTC	0.428											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E385X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1153T	2						.						106.0	103.0	104.0					2																	110303754		1869	4093	5962	109661043	SO:0001587	stop_gained	151011	exon9			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1222G>T	2.37:g.110303754C>A	ENSP00000380824:p.Glu408*	Somatic	1426	Capture	Illumina HiSeq	Phase_I	109661043	NM_178584	B3KRQ9|Q86VP5|Q9HAH6	Nonsense_Mutation	SNP	ENST00000397712.2	37	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337917	0.60963	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	.	.	.	5.87	5.87	0.94306	.	0.175445	0.39544	N	0.001329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.0453	0.93018	0.0:1.0:0.0:0.0	.	.	.	.	X	408;408;385;275;393;241;408	.	ENSP00000334234:E275X	E	-	1	0	SEPT10	109661043	1.000000	0.71417	0.997000	0.53966	0.185000	0.23345	5.220000	0.65267	2.797000	0.96272	0.650000	0.86243	GAA		0.428	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	
NPHP1	4867	broad.mit.edu	37	2	110962477	110962477	+	Splice_Site	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:110962477C>A	ENST00000393272.3	-	1	166	c.69G>T	c.(67-69)caG>caT	p.Q23H	NPHP1_ENST00000355301.4_Splice_Site_p.Q23H|NPHP1_ENST00000445609.2_Splice_Site_p.Q23H|NPHP1_ENST00000316534.4_Splice_Site_p.Q23H|NPHP1_ENST00000418527.1_Splice_Site_p.Q23H|NPHP1_ENST00000417665.1_Splice_Site_p.Q23H	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	23					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.Q23H(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTGACCATACCTGTTGCTTCA	0.667																																					p.Q23H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G69T	2						.						43.0	42.0	42.0					2																	110962477		2203	4300	6503	110319766	SO:0001630	splice_region_variant	4867	exon1			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.69+1G>T	2.37:g.110962477C>A		Somatic		Capture	Illumina HiSeq	Phase_I	110319766	NM_001128178	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318984	0.81469	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665;ENST00000418527	T;T;T;T;T	0.67523	-0.26;-0.2;-0.27;-0.14;-0.19	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.994;0.998;1.0;0.999	D;D;D;D;D;D;D	0.87578	0.996;0.995;0.994;0.986;0.993;0.998;0.997	T	0.77520	-0.2557	9	.	.	.	-15.8038	12.0674	0.53596	0.0:1.0:0.0:0.0	.	23;23;23;23;23;23;23	B4DQY0;C9JNM7;C9J082;O15259-3;O15259;O15259-2;O15259-4	.;.;.;.;NPHP1_HUMAN;.;.	H	23	ENSP00000313169:Q23H;ENSP00000389879:Q23H;ENSP00000376953:Q23H;ENSP00000347452:Q23H;ENSP00000402176:Q23H	.	Q	-	3	2	NPHP1	110319766	1.000000	0.71417	0.997000	0.53966	0.838000	0.47535	3.517000	0.53443	2.572000	0.86782	0.557000	0.71058	CAG		0.667	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	Missense_Mutation
ACOXL	55289	broad.mit.edu	37	2	111551742	111551742	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:111551742C>A	ENST00000389811.4	+	5	560	c.336C>A	c.(334-336)ctC>ctA	p.L112L	ACOXL_ENST00000439055.1_Silent_p.L112L|ACOXL_ENST00000340561.4_Silent_p.L112L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	112					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.L112L(3)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCTTTGACCTCTCTGCCCAGG	0.552																																					p.L112L												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C336A	2						.						77.0	85.0	82.0					2																	111551742		1963	4147	6110	111268213	SO:0001819	synonymous_variant	55289	exon5				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.336C>A	2.37:g.111551742C>A		Somatic		Capture	Illumina HiSeq	Phase_I	111268213	NM_001142807	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37																																																																																					0.552	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	
ANAPC1	64682	broad.mit.edu	37	2	112592443	112592443	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:112592443C>T	ENST00000341068.3	-	19	2894	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	708					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E708K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGTAAATATTCCCAGTCCTGA	0.289																																					p.E708K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2122A	2						.						25.0	26.0	25.0					2																	112592443		2185	4284	6469	112308914	SO:0001583	missense	64682	exon19			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2122G>A	2.37:g.112592443C>T	ENSP00000339109:p.Glu708Lys	Somatic		Capture	Illumina HiSeq	Phase_I	112308914	NM_022662	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.731877|2.731877	0.48939|0.48939	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.30182|.	1.54|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.280588|.	0.22518|.	U|.	0.059005|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.78049|0.78049	2.395|2.395	0.41284|0.41284	D|D	0.986935|0.986935	B|.	0.11235|.	0.004|.	B|.	0.15484|.	0.013|.	T|T	0.78879|0.78879	-0.2030|-0.2030	10|5	0.11485|.	T|.	0.65|.	-7.1353|-7.1353	18.3964|18.3964	0.90501|0.90501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	708|.	Q9H1A4|.	APC1_HUMAN|.	K|E	708|242	ENSP00000339109:E708K|.	ENSP00000339109:E708K|.	E|G	-|-	1|2	0|0	ANAPC1|ANAPC1	112308914|112308914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.030000|4.030000	0.57260|0.57260	2.424000|2.424000	0.82194|0.82194	0.558000|0.558000	0.71614|0.71614	GAA|GGA		0.289	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
ANAPC1	64682	broad.mit.edu	37	2	112615955	112615955	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:112615955T>G	ENST00000341068.3	-	11	2058	c.1286A>C	c.(1285-1287)aAa>aCa	p.K429T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	429					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.K429T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATAAACACTTTTGAGGCTTG	0.368																																					p.K429T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1286C	2						.						71.0	69.0	70.0					2																	112615955		2203	4300	6503	112332426	SO:0001583	missense	64682	exon11			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1286A>C	2.37:g.112615955T>G	ENSP00000339109:p.Lys429Thr	Somatic		Capture	Illumina HiSeq	Phase_I	112332426	NM_022662	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055423	0.75960	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.92	4.92	0.64577	.	0.903179	0.08923	U	0.874090	T	0.55513	0.1925	L	0.54323	1.7	0.58432	D	0.999996	P	0.37781	0.608	B	0.34590	0.186	T	0.51132	-0.8744	9	0.37606	T	0.19	-13.52	14.8561	0.70338	0.0:0.0:0.0:1.0	.	429	Q9H1A4	APC1_HUMAN	T	429	.	ENSP00000339109:K429T	K	-	2	0	ANAPC1	112332426	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.796000	0.62496	1.964000	0.57103	0.459000	0.35465	AAA		0.368	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
ZC3H6	376940	broad.mit.edu	37	2	113080467	113080467	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:113080467A>C	ENST00000409871.1	+	9	1729	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K443T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	443	Pro-rich.						metal ion binding (GO:0046872)	p.K443T(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTAGCGCATAAAATTGGGAGG	0.303																																					p.K443T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1328C	2						.						57.0	60.0	59.0					2																	113080467		1796	4067	5863	112796938	SO:0001583	missense	376940	exon9			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1328A>C	2.37:g.113080467A>C	ENSP00000386764:p.Lys443Thr	Somatic		Capture	Illumina HiSeq	Phase_I	112796938	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383858	0.82792	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.35973	1.28;1.28	5.43	5.43	0.79202	.	0.127237	0.64402	D	0.000011	T	0.57946	0.2088	M	0.63843	1.955	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.60732	-0.7205	10	0.66056	D	0.02	-19.7764	15.7751	0.78207	1.0:0.0:0.0:0.0	.	443	P61129	ZC3H6_HUMAN	T	443;443;420	ENSP00000386764:K443T;ENSP00000340298:K443T	ENSP00000340298:K443T	K	+	2	0	ZC3H6	112796938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.678000	0.91211	2.186000	0.69663	0.459000	0.35465	AAA		0.303	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
IL37	27178	broad.mit.edu	37	2	113674719	113674719	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:113674719G>T	ENST00000263326.3	+	3	201	c.159G>T	c.(157-159)aaG>aaT	p.K53N	IL37_ENST00000349806.3_Intron|IL37_ENST00000353225.3_Intron|IL37_ENST00000311328.2_Missense_Mutation_p.K27N|IL37_ENST00000352179.3_Missense_Mutation_p.K32N	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	53					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.K53N(1)|p.K27N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CAAAGGTGAAGAACTTAAACC	0.448																																					p.K27N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G81T	2						.						95.0	90.0	92.0					2																	113674719		2203	4300	6503	113391190	SO:0001583	missense	27178	exon2			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.159G>T	2.37:g.113674719G>T	ENSP00000263326:p.Lys53Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113391190	NM_173205	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.511733	0.27036	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000311328	T;T;T	0.58506	0.33;0.33;0.33	2.83	-1.53	0.08611	.	1.731710	0.03411	N	0.204859	T	0.46737	0.1408	L	0.53249	1.67	0.09310	N	1	B;B;P	0.48162	0.008;0.003;0.906	B;B;B	0.38056	0.006;0.006;0.264	T	0.43393	-0.9394	10	0.49607	T	0.09	-0.2498	2.7822	0.05364	0.3884:0.0:0.3871:0.2245	.	27;32;53	Q9NZH6-2;Q9NZH6-4;Q9NZH6	.;.;IL37_HUMAN	N	53;32;27	ENSP00000263326:K53N;ENSP00000263327:K32N;ENSP00000309883:K27N	ENSP00000263326:K53N	K	+	3	2	IL37	113391190	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.248000	0.08854	-0.354000	0.08212	-0.292000	0.09595	AAG		0.448	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439	
SNTG2	54221	broad.mit.edu	37	2	1168827	1168827	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:1168827C>A	ENST00000308624.5	+	8	678	c.549C>A	c.(547-549)ctC>ctA	p.L183L	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	183					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.L183L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTCTCCCCTCTTTGACAGCG	0.478																																					p.L183L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549A	2						.						154.0	157.0	156.0					2																	1168827		1942	4140	6082	1158827	SO:0001819	synonymous_variant	54221	exon8			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.549C>A	2.37:g.1168827C>A		Somatic		Capture	Illumina HiSeq	Phase_I	1158827	NM_018968	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																				0.478	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
GREB1	9687	broad.mit.edu	37	2	11742553	11742553	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:11742553A>C	ENST00000381486.2	+	17	2851	c.2551A>C	c.(2551-2553)Aat>Cat	p.N851H	GREB1_ENST00000234142.5_Missense_Mutation_p.N851H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	851						integral component of membrane (GO:0016021)		p.N851H(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATATCATGAAAATAAGAAGTA	0.512																																					p.N851H	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2551C	2						.						155.0	155.0	155.0					2																	11742553		1896	4139	6035	11660004	SO:0001583	missense	9687	exon17				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2551A>C	2.37:g.11742553A>C	ENSP00000370896:p.Asn851His	Somatic		Capture	Illumina HiSeq	Phase_I	11660004	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166934	0.57476	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.47177	0.85;0.85;0.85	5.47	4.32	0.51571	.	0.444083	0.26119	N	0.026232	T	0.46249	0.1383	L	0.43152	1.355	0.29117	N	0.880471	P;P	0.36315	0.547;0.547	B;B	0.44224	0.346;0.444	T	0.43426	-0.9392	10	0.38643	T	0.18	-49.6088	11.1282	0.48330	0.9276:0.0:0.0724:0.0	.	485;851	C9JIG0;Q4ZG55	.;GREB1_HUMAN	H	851;851;485	ENSP00000370896:N851H;ENSP00000234142:N851H;ENSP00000403886:N485H	ENSP00000234142:N851H	N	+	1	0	GREB1	11660004	1.000000	0.71417	0.011000	0.14972	0.629000	0.37895	6.966000	0.76073	0.922000	0.37019	0.533000	0.62120	AAT		0.512	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
IL36A	27179	broad.mit.edu	37	2	113765499	113765499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:113765499G>A	ENST00000259211.6	+	4	766	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	119					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)	p.E119K(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTCCACCTTCGAGTCTGTGGC	0.512																																					p.E119K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	2						.						89.0	89.0	89.0					2																	113765499		1918	4132	6050	113481970	SO:0001583	missense	27179	exon4			AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.355G>A	2.37:g.113765499G>A	ENSP00000259211:p.Glu119Lys	Somatic		Capture	Illumina HiSeq	Phase_I	113481970	NM_014440	B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731139	0.69189	.	.	ENSG00000136694	ENST00000259211;ENST00000397653	T	0.23552	1.9	4.78	2.92	0.33932	.	0.000000	0.56097	D	0.000026	T	0.50905	0.1643	M	0.88704	2.975	0.28260	N	0.924861	D	0.67145	0.996	D	0.63192	0.912	T	0.52223	-0.8604	10	0.52906	T	0.07	-0.7541	11.0848	0.48080	0.0:0.3642:0.6358:0.0	.	119	Q9UHA7	IL36A_HUMAN	K	119;4	ENSP00000259211:E119K	ENSP00000259211:E119K	E	+	1	0	IL36A	113481970	0.686000	0.27661	0.560000	0.28344	0.799000	0.45148	0.696000	0.25541	0.557000	0.29117	0.591000	0.81541	GAG		0.512	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440	
DDX18	8886	broad.mit.edu	37	2	118578755	118578755	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:118578755C>T	ENST00000263239.2	+	4	661	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	178					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S178L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGATACTTCGTTTGCTTCT	0.299																																					p.S178L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C533T	2						.						56.0	58.0	57.0					2																	118578755		2202	4299	6501	118295225	SO:0001583	missense	8886	exon4			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.533C>T	2.37:g.118578755C>T	ENSP00000263239:p.Ser178Leu	Somatic		Capture	Illumina HiSeq	Phase_I	118295225	NM_006773	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088652	0.36855	.	.	ENSG00000088205	ENST00000263239	T	0.02216	4.39	5.0	5.0	0.66597	.	0.064970	0.64402	D	0.000004	T	0.02230	0.0069	N	0.16833	0.445	0.80722	D	1	B	0.18461	0.028	B	0.10450	0.005	T	0.61893	-0.6969	10	0.31617	T	0.26	.	17.0203	0.86432	0.0:1.0:0.0:0.0	.	178	Q9NVP1	DDX18_HUMAN	L	178	ENSP00000263239:S178L	ENSP00000263239:S178L	S	+	2	0	DDX18	118295225	1.000000	0.71417	0.974000	0.42286	0.324000	0.28378	7.176000	0.77643	2.775000	0.95449	0.650000	0.86243	TCG		0.299	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
PTPN4	5775	broad.mit.edu	37	2	120714640	120714640	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:120714640C>T	ENST00000263708.2	+	22	2891	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	PTPN4_ENST00000544261.1_Missense_Mutation_p.A340V	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	707	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.A707V(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TACATCAATGCGAACTATATA	0.284																																					p.A707V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2120T	2						.						40.0	43.0	42.0					2																	120714640		2200	4292	6492	120431110	SO:0001583	missense	5775	exon22				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2120C>T	2.37:g.120714640C>T	ENSP00000263708:p.Ala707Val	Somatic		Capture	Illumina HiSeq	Phase_I	120431110	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116553	0.94385	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.59364	0.27;0.27	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93901	0.7188	10	0.87932	D	0	.	18.9077	0.92469	0.0:1.0:0.0:0.0	.	707	P29074	PTN4_HUMAN	V	707;340	ENSP00000263708:A707V;ENSP00000445841:A340V	ENSP00000263708:A707V	A	+	2	0	PTPN4	120431110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.734000	0.84928	2.449000	0.82847	0.655000	0.94253	GCG		0.284	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		
GLI2	2736	broad.mit.edu	37	2	121740294	121740294	+	Silent	SNP	C	C	T	rs544791528		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:121740294C>T	ENST00000452319.1	+	11	1581	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.F507F|GLI2_ENST00000314490.11_Silent_p.F179F					GLI family zinc finger 2									p.F507F(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTTCTAGTTCGAGGGCTGCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15550	0.0		0.0	False		,,,				2504	0.0				p.F507F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1521T	2						.						46.0	49.0	48.0					2																	121740294		2203	4300	6503	121456764	SO:0001819	synonymous_variant	2736	exon10				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1521C>T	2.37:g.121740294C>T		Somatic		Capture	Illumina HiSeq	Phase_I	121456764	NM_005270		Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
CLASP1	23332	broad.mit.edu	37	2	122168446	122168446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:122168446G>A	ENST00000263710.4	-	24	2809	c.2420C>T	c.(2419-2421)gCt>gTt	p.A807V	CLASP1_ENST00000455322.2_Missense_Mutation_p.A771V|CLASP1_ENST00000409078.3_Missense_Mutation_p.A771V|CLASP1_ENST00000541377.1_Missense_Mutation_p.A778V|CLASP1_ENST00000541859.1_Missense_Mutation_p.A540V|CLASP1_ENST00000545861.1_Missense_Mutation_p.A547V|CLASP1_ENST00000397587.3_Missense_Mutation_p.A779V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	807					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.A807V(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCTTACCAAAGCATCAGCAAC	0.448																																					p.A771V												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C2312T	2						.						97.0	92.0	93.0					2																	122168446		1948	4152	6100	121884916	SO:0001583	missense	23332	exon23			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2420C>T	2.37:g.122168446G>A	ENSP00000263710:p.Ala807Val	Somatic		Capture	Illumina HiSeq	Phase_I	121884916	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	33	5.234596	0.95207	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000463621	T;T;T;T;T;T	0.54675	1.97;1.68;1.82;1.7;0.56;1.82	5.67	5.67	0.87782	Armadillo-type fold (1);	0.046493	0.85682	D	0.000000	T	0.70046	0.3179	M	0.74546	2.27	0.80722	D	1	D;P;P;D	0.64830	0.982;0.883;0.668;0.994	P;B;B;P	0.59357	0.734;0.36;0.137;0.856	T	0.70749	-0.4787	10	0.49607	T	0.09	-2.9177	17.9504	0.89051	0.0:0.0:1.0:0.0	.	771;779;778;807	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	V	807;771;779;778;540;771;547;112	ENSP00000263710:A807V;ENSP00000389372:A771V;ENSP00000380717:A779V;ENSP00000441625:A778V;ENSP00000441770:A540V;ENSP00000386442:A771V	ENSP00000263710:A807V	A	-	2	0	CLASP1	121884916	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.302000	0.96175	2.680000	0.91292	0.563000	0.77884	GCT		0.448	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
CNTNAP5	129684	broad.mit.edu	37	2	125232374	125232374	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:125232374T>A	ENST00000431078.1	+	7	1341	c.977T>A	c.(976-978)tTc>tAc	p.F326Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	326	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.F326Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGAAAAACTTCCATGGATGC	0.388																																					p.F326Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T977A	2						.						55.0	50.0	52.0					2																	125232374		1817	4081	5898	124948844	SO:0001583	missense	129684	exon7			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.977T>A	2.37:g.125232374T>A	ENSP00000399013:p.Phe326Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124948844	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941177	0.92526	.	.	ENSG00000155052	ENST00000431078	D	0.90261	-2.64	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.52532	D	0.000069	D	0.95617	0.8575	M	0.84846	2.72	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.96032	0.9017	10	0.66056	D	0.02	.	15.379	0.74637	0.0:0.0:0.0:1.0	.	326	Q8WYK1	CNTP5_HUMAN	Y	326	ENSP00000399013:F326Y	ENSP00000399013:F326Y	F	+	2	0	CNTNAP5	124948844	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.461000	0.80834	2.277000	0.76020	0.482000	0.46254	TTC		0.388	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu	37	2	125521625	125521625	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:125521625T>G	ENST00000431078.1	+	16	2795	c.2431T>G	c.(2431-2433)Ttc>Gtc	p.F811V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	811	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.F811V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCATGCGGAATTCAGTGCCGA	0.413																																					p.F811V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2431G	2						.						142.0	132.0	135.0					2																	125521625		1828	4088	5916	125238095	SO:0001583	missense	129684	exon16			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2431T>G	2.37:g.125521625T>G	ENSP00000399013:p.Phe811Val	Somatic		Capture	Illumina HiSeq	Phase_I	125238095	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509171	0.44660	.	.	ENSG00000155052	ENST00000431078	T	0.45668	0.89	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.263053	0.27072	N	0.021065	T	0.36110	0.0955	L	0.50333	1.59	0.35297	D	0.782656	B	0.15141	0.012	B	0.11329	0.006	T	0.41752	-0.9491	10	0.16896	T	0.51	.	12.0471	0.53485	0.0:0.0:0.1538:0.8462	.	811	Q8WYK1	CNTP5_HUMAN	V	811	ENSP00000399013:F811V	ENSP00000399013:F811V	F	+	1	0	CNTNAP5	125238095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.696000	0.54757	2.263000	0.75096	0.533000	0.62120	TTC		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu	37	2	125547597	125547597	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:125547597C>T	ENST00000431078.1	+	18	3232	c.2868C>T	c.(2866-2868)tgC>tgT	p.C956C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	956	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.C956C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCCAGGCTGCCCCGGCCACT	0.542																																					p.C956C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2868T	2						.						51.0	59.0	56.0					2																	125547597		2130	4237	6367	125264067	SO:0001819	synonymous_variant	129684	exon18			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2868C>T	2.37:g.125547597C>T		Somatic		Capture	Illumina HiSeq	Phase_I	125264067	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
SAP130	79595	broad.mit.edu	37	2	128747222	128747222	+	Missense_Mutation	SNP	G	G	T	rs374986205		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:128747222G>T	ENST00000259235.3	-	13	1903	c.1774C>A	c.(1774-1776)Cac>Aac	p.H592N	SAP130_ENST00000259234.6_Missense_Mutation_p.H566N|SAP130_ENST00000357702.5_Missense_Mutation_p.H592N	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	592					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.H592N(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTTGCTGAGTGAATTCCCTGT	0.537																																					p.H592N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1774A	2						.						132.0	126.0	128.0					2																	128747222		2203	4300	6503	128463692	SO:0001583	missense	79595	exon13			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1774C>A	2.37:g.128747222G>T	ENSP00000259235:p.His592Asn	Somatic		Capture	Illumina HiSeq	Phase_I	128463692	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908834	0.72868	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.996;0.993;0.996	D;D;D;D;D	0.78314	0.991;0.991;0.986;0.987;0.986	T	0.63633	-0.6593	9	0.20519	T	0.43	-15.9121	20.3214	0.98679	0.0:0.0:1.0:0.0	.	592;565;592;122;230	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	N	592;592;566	.	ENSP00000259234:H566N	H	-	1	0	SAP130	128463692	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.276000	0.95745	2.804000	0.96469	0.655000	0.94253	CAC		0.537	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	
ARHGEF4	50649	broad.mit.edu	37	2	131801142	131801142	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:131801142A>G	ENST00000326016.5	+	11	2104	c.1585A>G	c.(1585-1587)Atc>Gtc	p.I529V	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.I458V|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.I469V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.I529V|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.I529V	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	529	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.I529V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCACCAGCTCATCTACTGTAA	0.562																																					p.I529V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1585G	2						.						108.0	96.0	100.0					2																	131801142		2203	4300	6503	131517612	SO:0001583	missense	50649	exon11			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1585A>G	2.37:g.131801142A>G	ENSP00000316845:p.Ile529Val	Somatic		Capture	Illumina HiSeq	Phase_I	131517612	NM_015320	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.621|2.621	-0.288507|-0.288507	0.05605|0.05605	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000532720|ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	.|D;D;D;D;D	.|0.87650	.|-2.28;-2.28;-2.28;-2.28;-2.28	5.02|5.02	3.88|3.88	0.44766|0.44766	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.135420	.|0.49916	.|D	.|0.000134	T|T	0.60248|0.60248	0.2254|0.2254	N|N	0.01019|0.01019	-1.045|-1.045	0.36341|0.36341	D|D	0.859497|0.859497	.|B;B;B	.|0.19200	.|0.034;0.027;0.034	.|B;B;B	.|0.27500	.|0.08;0.048;0.08	T|T	0.62595|0.62595	-0.6821|-0.6821	5|10	.|0.02654	.|T	.|1	.|.	5.6532|5.6532	0.17629|0.17629	0.8051:0.0:0.1949:0.0|0.8051:0.0:0.1949:0.0	.|.	.|469;529;529	.|E9PEM0;Q9NR80-4;Q9NR80	.|.;.;ARHG4_HUMAN	R|V	145|529;529;529;469;458	.|ENSP00000316845:I529V;ENSP00000376680:I529V;ENSP00000432267:I529V;ENSP00000387285:I469V;ENSP00000348017:I458V	.|ENSP00000316845:I529V	H|I	+|+	2|1	0|0	ARHGEF4|ARHGEF4	131517612|131517612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	3.938000|3.938000	0.56583|0.56583	1.891000|1.891000	0.54761|0.54761	0.459000|0.459000	0.35465|0.35465	CAT|ATC		0.562	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
PLEKHB2	55041	broad.mit.edu	37	2	131883457	131883457	+	Missense_Mutation	SNP	C	C	T	rs150558543	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:131883457C>T	ENST00000403716.1	+	3	729	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PLEKHB2_ENST00000409279.1_Missense_Mutation_p.R57C|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.R57C|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R57C|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.R57C|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.R9C|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.R57C|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.R57C|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.R57C|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.R57C	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)		p.R57C(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CATCAACATCCGCACGGGGCA	0.527																																					p.R57C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C169T	2						.	C	CYS/ARG,CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	116.0	103.0	108.0		169,169	4.9	1.0	2	dbSNP_134	108	0,8600		0,0,4300	yes	missense,missense	PLEKHB2	NM_001100623.1,NM_017958.2	180,180	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging	57/223,57/222	131883457	5,13001	2203	4300	6503	131599927	SO:0001583	missense	55041	exon3				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.169C>T	2.37:g.131883457C>T	ENSP00000385892:p.Arg57Cys	Somatic		Capture	Illumina HiSeq	Phase_I	131599927	NM_017958	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311152	0.81358	0.001135	0.0	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000538982;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;1.44;-1.0;-1.0;-1.0;-1.0	4.93	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067173	0.64402	N	0.000018	D	0.84669	0.5523	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0;0.999;1.0	D	0.85741	0.1337	10	0.62326	D	0.03	-0.1004	11.1408	0.48402	0.1843:0.8157:0.0:0.0	.	57;57;57;57;57;57;57	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	C	57;57;57;57;57;9;57;57;57;57	ENSP00000386410:R57C;ENSP00000385892:R57C;ENSP00000234115:R57C;ENSP00000389629:R57C;ENSP00000401193:R57C;ENSP00000444389:R9C;ENSP00000385609:R57C;ENSP00000386662:R57C;ENSP00000386666:R57C;ENSP00000306852:R57C	ENSP00000234115:R57C	R	+	1	0	PLEKHB2	131599927	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	4.120000	0.57897	2.443000	0.82685	0.462000	0.41574	CGC		0.527	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958	
NCKAP5	344148	broad.mit.edu	37	2	133540534	133540534	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:133540534C>A	ENST00000409261.1	-	14	4223	c.3850G>T	c.(3850-3852)Gac>Tac	p.D1284Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1284Y	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1284								p.D1284Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAAGGCTTGTCTCCTGAGTGT	0.542																																					p.D1284Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3850T	2						.						96.0	98.0	97.0					2																	133540534		2008	4182	6190	133257004	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3850G>T	2.37:g.133540534C>A	ENSP00000387128:p.Asp1284Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	133257004	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537755	0.65085	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11712	2.75;2.75	5.5	5.5	0.81552	.	0.438355	0.16304	U	0.220326	T	0.20007	0.0481	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.63113	0.911	T	0.02070	-1.1219	10	0.66056	D	0.02	.	17.7704	0.88490	0.0:1.0:0.0:0.0	.	1284	O14513	NCKP5_HUMAN	Y	1284	ENSP00000387128:D1284Y;ENSP00000380603:D1284Y	ENSP00000380603:D1284Y	D	-	1	0	NCKAP5	133257004	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.542000	0.73869	2.854000	0.98071	0.655000	0.94253	GAC		0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133541716	133541716	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:133541716T>C	ENST00000409261.1	-	14	3041	c.2668A>G	c.(2668-2670)Agt>Ggt	p.S890G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S890G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	890								p.S890G(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAGTCTGACTCTTGGGGCAC	0.587																																					p.S890G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2668G	2						.						50.0	52.0	51.0					2																	133541716		1970	4153	6123	133258186	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2668A>G	2.37:g.133541716T>C	ENSP00000387128:p.Ser890Gly	Somatic		Capture	Illumina HiSeq	Phase_I	133258186	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	8.295	0.818570	0.16607	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.15834	2.39;2.39	4.76	3.6	0.41247	.	0.148426	0.30611	U	0.009250	T	0.13329	0.0323	L	0.32530	0.975	0.80722	D	1	B	0.20988	0.05	B	0.20384	0.029	T	0.05402	-1.0887	10	0.62326	D	0.03	.	9.2995	0.37835	0.0:0.0819:0.0:0.9181	.	890	O14513	NCKP5_HUMAN	G	890	ENSP00000387128:S890G;ENSP00000380603:S890G	ENSP00000380603:S890G	S	-	1	0	NCKAP5	133258186	0.438000	0.25602	0.877000	0.34402	0.037000	0.13140	2.069000	0.41481	0.971000	0.38288	0.525000	0.51046	AGT		0.587	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133636434	133636434	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:133636434C>T	ENST00000409261.1	-	9	1008	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R212Q|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R212Q|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R212Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	212								p.R212Q(1)|p.R51Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCAAGACATCGCTCATATTG	0.413																																					p.R212Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G635A	2						.						184.0	178.0	180.0					2																	133636434		1997	4155	6152	133352904	SO:0001583	missense	344148	exon9			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.635G>A	2.37:g.133636434C>T	ENSP00000387128:p.Arg212Gln	Somatic		Capture	Illumina HiSeq	Phase_I	133352904	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394630	0.62066	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.56444	2.42;0.46;2.42;0.46	5.7	5.7	0.88788	.	0.000000	0.30003	U	0.010660	T	0.69006	0.3063	L	0.50333	1.59	0.27874	N	0.939938	D;D	0.89917	1.0;0.993	D;D	0.85130	0.997;0.934	T	0.64554	-0.6380	10	0.87932	D	0	.	18.0183	0.89248	0.0:1.0:0.0:0.0	.	212;212	O14513-2;O14513	.;NCKP5_HUMAN	Q	212	ENSP00000387128:R212Q;ENSP00000386952:R212Q;ENSP00000380603:R212Q;ENSP00000385692:R212Q	ENSP00000380603:R212Q	R	-	2	0	NCKAP5	133352904	1.000000	0.71417	0.928000	0.36995	0.858000	0.48976	3.111000	0.50360	2.711000	0.92665	0.561000	0.74099	CGA		0.413	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
MAP3K19	80122	broad.mit.edu	37	2	135744013	135744013	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:135744013A>G	ENST00000375845.3	-	7	2459	c.2429T>C	c.(2428-2430)gTt>gCt	p.V810A	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.V697A|MAP3K19_ENST00000392915.1_Missense_Mutation_p.V827A	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	810							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V810A(1)|p.V162A(1)									AACTTCTTCAACAATGGATAA	0.403																																					p.V810A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2429C	2						.						74.0	73.0	73.0					2																	135744013		2203	4300	6503	135460483	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2429T>C	2.37:g.135744013A>G	ENSP00000365005:p.Val810Ala	Somatic		Capture	Illumina HiSeq	Phase_I	135460483	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	10.70	1.424506	0.25639	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.74315	-0.74;-0.73;1.6;-0.83	4.87	3.65	0.41850	.	0.338497	0.21226	N	0.078076	T	0.72260	0.3438	L	0.43923	1.385	0.80722	D	1	D;D;P	0.55605	0.972;0.972;0.953	P;P;B	0.51550	0.488;0.673;0.388	T	0.69405	-0.5154	10	0.29301	T	0.29	.	11.8451	0.52378	0.8542:0.1458:0.0:0.0	.	697;827;810	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	A	810;697;827;200	ENSP00000365005:V810A;ENSP00000351140:V697A;ENSP00000376647:V827A;ENSP00000392827:V200A	ENSP00000351140:V697A	V	-	2	0	YSK4	135460483	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	4.536000	0.60636	2.037000	0.60232	0.379000	0.24179	GTT		0.403	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
MAP3K19	80122	broad.mit.edu	37	2	135745210	135745210	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:135745210C>A	ENST00000375845.3	-	7	1262	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R298I|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R428I	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	411							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R411I(1)									TTTATTATTTCTCATCTCTTC	0.333																																					p.R411I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232T	2						.						92.0	93.0	93.0					2																	135745210		2203	4300	6503	135461680	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1232G>T	2.37:g.135745210C>A	ENSP00000365005:p.Arg411Ile	Somatic		Capture	Illumina HiSeq	Phase_I	135461680	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489575	0.44249	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.72835	-0.69;-0.68;1.66	5.03	3.21	0.36854	.	0.762340	0.11605	N	0.547375	T	0.64746	0.2626	L	0.38175	1.15	0.20074	N	0.999934	P;P;P	0.44380	0.834;0.834;0.744	B;P;B	0.48627	0.311;0.584;0.31	T	0.54873	-0.8228	10	0.54805	T	0.06	.	4.0658	0.09859	0.0:0.5735:0.1927:0.2339	.	298;428;411	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	411;298;428	ENSP00000365005:R411I;ENSP00000351140:R298I;ENSP00000376647:R428I	ENSP00000351140:R298I	R	-	2	0	YSK4	135461680	0.000000	0.05858	0.036000	0.18154	0.766000	0.43426	0.068000	0.14531	0.680000	0.31366	0.585000	0.79938	AGA		0.333	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
ZRANB3	84083	broad.mit.edu	37	2	135965174	135965174	+	Nonsense_Mutation	SNP	G	G	A	rs367951058		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:135965174G>A	ENST00000264159.6	-	19	2955	c.2839C>T	c.(2839-2841)Cga>Tga	p.R947*	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.R945*|ZRANB3_ENST00000401392.1_Nonsense_Mutation_p.R945*	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	947					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.R410*(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTATTAGATCGAATCCAAAAC	0.433																																					p.R947X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2839T	2						.	G	stop/ARG	0,3844		0,0,1922	197.0	187.0	190.0		2839	5.8	1.0	2		190	1,8243		0,1,4121	no	stop-gained	ZRANB3	NM_032143.2		0,1,6043	AA,AG,GG		0.0121,0.0,0.0083		947/1080	135965174	1,12087	1922	4122	6044	135681644	SO:0001587	stop_gained	84083	exon19			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2839C>T	2.37:g.135965174G>A	ENSP00000264159:p.Arg947*	Somatic		Capture	Illumina HiSeq	Phase_I	135681644	NM_032143	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Nonsense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	43	10.222310	0.99362	0.0	1.21E-4	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4808	20.0782	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	410;410;945;947;945	.	ENSP00000264159:R947X	R	-	1	2	ZRANB3	135681644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.790000	0.91844	2.746000	0.94184	0.655000	0.94253	CGA		0.433	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
LCT	3938	broad.mit.edu	37	2	136570042	136570042	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:136570042C>T	ENST00000264162.2	-	7	2202	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	731	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G731E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCTCCTTATCCCCCAGGGCAC	0.507																																					p.G731E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2192A	2						.						90.0	91.0	91.0					2																	136570042		2203	4300	6503	136286512	SO:0001583	missense	3938	exon7			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2192G>A	2.37:g.136570042C>T	ENSP00000264162:p.Gly731Glu	Somatic		Capture	Illumina HiSeq	Phase_I	136286512	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126592	0.94429	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89673	0.3885	10	0.87932	D	0	-22.0891	19.76	0.96311	0.0:1.0:0.0:0.0	.	731	P09848	LPH_HUMAN	E	731;163	ENSP00000264162:G731E	ENSP00000264162:G731E	G	-	2	0	LCT	136286512	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.800000	0.85949	2.666000	0.90696	0.655000	0.94253	GGG		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	broad.mit.edu	37	2	136574918	136574918	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:136574918G>T	ENST00000264162.2	-	6	1710	c.1700C>A	c.(1699-1701)tCt>tAt	p.S567Y	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	567	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S567Y(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TACCTTAAAAGAGGCCACTCC	0.542																																					p.S567Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1700A	2						.						54.0	58.0	57.0					2																	136574918		2203	4300	6503	136291388	SO:0001583	missense	3938	exon6			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1700C>A	2.37:g.136574918G>T	ENSP00000264162:p.Ser567Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	136291388	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202807	0.79127	.	.	ENSG00000115850	ENST00000264162	T	0.50813	0.73	5.34	4.4	0.53042	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.419091	0.26944	N	0.021720	T	0.64193	0.2576	L	0.58583	1.82	0.50632	D	0.999882	D	0.89917	1.0	D	0.87578	0.998	T	0.64063	-0.6495	10	0.49607	T	0.09	-10.556	15.1161	0.72404	0.0:0.0:0.8579:0.1421	.	567	P09848	LPH_HUMAN	Y	567	ENSP00000264162:S567Y	ENSP00000264162:S567Y	S	-	2	0	LCT	136291388	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	6.738000	0.74822	2.651000	0.90000	0.561000	0.74099	TCT		0.542	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LRP1B	53353	broad.mit.edu	37	2	140990784	140990784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:140990784C>A	ENST00000389484.3	-	91	14742	c.13771G>T	c.(13771-13773)Gaa>Taa	p.E4591*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4591					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E4591*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACCAATTTCTATTTTCTTT	0.323										TSP Lung(27;0.18)																											p.E4591X	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G13771T	2						.						98.0	101.0	100.0					2																	140990784		2200	4300	6500	140707254	SO:0001587	stop_gained	53353	exon91			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13771G>T	2.37:g.140990784C>A	ENSP00000374135:p.Glu4591*	Somatic		Capture	Illumina HiSeq	Phase_I	140707254	NM_018557	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	57|57	29.320068|29.320068	0.99975|0.99975	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.076957|.	0.50627|.	U|.	0.000104|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	.|.	19.5901|19.5901	0.95506|0.95506	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|Y	4591;4529|789	.|.	ENSP00000374135:E4591X|.	E|X	-|-	1|3	0|2	LRP1B|LRP1B	140707254|140707254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.626000|2.626000	0.88956|0.88956	0.585000|0.585000	0.79938|0.79938	GAA|TAG		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141819756	141819756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:141819756G>T	ENST00000389484.3	-	8	2071	c.1100C>A	c.(1099-1101)tCa>tAa	p.S367*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	367					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S367*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCTGTCTTTGAATCAATTAT	0.423										TSP Lung(27;0.18)																											p.S367X	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1100A	2						.						164.0	144.0	151.0					2																	141819756		2203	4300	6503	141536226	SO:0001587	stop_gained	53353	exon8			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1100C>A	2.37:g.141819756G>T	ENSP00000374135:p.Ser367*	Somatic		Capture	Illumina HiSeq	Phase_I	141536226	NM_018557	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	46	12.763298	0.99694	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.63	5.63	0.86233	.	0.167795	0.41294	D	0.000915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	X	367;305	.	ENSP00000374135:S367X	S	-	2	0	LRP1B	141536226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.603000	0.54074	2.805000	0.96524	0.655000	0.94253	TCA		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
GTDC1	79712	broad.mit.edu	37	2	144764988	144764988	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:144764988C>A	ENST00000392869.2	-	6	788	c.636G>T	c.(634-636)gaG>gaT	p.E212D	GTDC1_ENST00000542155.1_Missense_Mutation_p.E212D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.E212D|GTDC1_ENST00000344850.4_Missense_Mutation_p.E212D|GTDC1_ENST00000409214.1_Missense_Mutation_p.E212D|GTDC1_ENST00000463875.2_Missense_Mutation_p.E83D|GTDC1_ENST00000392867.3_Missense_Mutation_p.E212D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	212					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.E212D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCAATAAATCCTCTGAATCTC	0.423																																					p.E212D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G636T	2						.						81.0	81.0	81.0					2																	144764988		2203	4300	6503	144481458	SO:0001583	missense	79712	exon7			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.636G>T	2.37:g.144764988C>A	ENSP00000376608:p.Glu212Asp	Somatic		Capture	Illumina HiSeq	Phase_I	144481458	NM_001164629	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679370	0.29783	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.48201	0.85;0.85;0.82;0.85;0.82;0.85;0.84	5.32	4.43	0.53597	.	0.457701	0.25575	N	0.029740	T	0.45094	0.1325	M	0.66939	2.045	0.09310	N	1	B;B;B;B	0.30281	0.275;0.2;0.079;0.021	B;B;B;B	0.33042	0.157;0.051;0.021;0.021	T	0.42599	-0.9442	10	0.42905	T	0.14	-17.5589	8.0073	0.30332	0.0:0.7758:0.0:0.2242	.	212;212;212;212	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	D	212;212;212;212;212;212;83	ENSP00000376608:E212D;ENSP00000386581:E212D;ENSP00000376606:E212D;ENSP00000438323:E212D;ENSP00000241391:E212D;ENSP00000339750:E212D;ENSP00000437964:E83D	ENSP00000241391:E212D	E	-	3	2	GTDC1	144481458	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.698000	0.25571	1.352000	0.45808	0.655000	0.94253	GAG		0.423	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659	
MBD5	55777	broad.mit.edu	37	2	149240934	149240934	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:149240934C>A	ENST00000407073.1	+	10	3771	c.2774C>A	c.(2773-2775)tCt>tAt	p.S925Y	MBD5_ENST00000404807.1_Missense_Mutation_p.S925Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	925					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S925Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTACCTATCTCTTTGCCAGTG	0.478																																					p.S925Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2774A	2						.						204.0	203.0	204.0					2																	149240934		2203	4300	6503	148957404	SO:0001583	missense	55777	exon10			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2774C>A	2.37:g.149240934C>A	ENSP00000386049:p.Ser925Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	148957404	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.929552|2.929552	0.52759|0.52759	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.51574	.|0.7;0.75	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.46502|0.46502	0.1396|0.1396	N|N	0.14661|0.14661	0.345|0.345	0.47153|0.47153	D|D	0.999338|0.999338	.|D	.|0.60160	.|0.987	.|P	.|0.52217	.|0.693	T|T	0.52895|0.52895	-0.8514|-0.8514	5|10	.|0.72032	.|D	.|0.01	-8.2902|-8.2902	19.7359|19.7359	0.96202|0.96202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|925	.|Q9P267	.|MBD5_HUMAN	I|Y	665|925	.|ENSP00000386049:S925Y;ENSP00000384672:S925Y	.|ENSP00000384672:S925Y	L|S	+|+	1|2	0|0	MBD5|MBD5	148957404|148957404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.677000|5.677000	0.68142|0.68142	2.672000|2.672000	0.90937|0.90937	0.462000|0.462000	0.41574|0.41574	CTT|TCT		0.478	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
KIF5C	3800	broad.mit.edu	37	2	149818509	149818509	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:149818509C>A	ENST00000435030.1	+	11	1361	c.993C>A	c.(991-993)gtC>gtA	p.V331V	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.V236V|KIF5C_ENST00000397413.1_Silent_p.V99V			O60282	KIF5C_HUMAN	kinesin family member 5C	331					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.V234V(2)|p.V331V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAATACAGTCTCTGTGAACC	0.353																																					p.V307V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C921A	2						.						112.0	103.0	106.0					2																	149818509		1826	4091	5917	149526755	SO:0001819	synonymous_variant	3800	exon10			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.993C>A	2.37:g.149818509C>A		Somatic		Capture	Illumina HiSeq	Phase_I	149526755	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																					0.353	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149856970	149856970	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:149856970G>A	ENST00000435030.1	+	20	2612	c.2244G>A	c.(2242-2244)aaG>aaA	p.K748K	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.K653K|KIF5C_ENST00000397413.1_Silent_p.K516K			O60282	KIF5C_HUMAN	kinesin family member 5C	748					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K651K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AACAGGAGAAGCTTAGTTCTG	0.368																																					p.K724K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2172A	2						.						54.0	51.0	52.0					2																	149856970		1833	4083	5916	149565216	SO:0001819	synonymous_variant	3800	exon19			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2244G>A	2.37:g.149856970G>A		Somatic		Capture	Illumina HiSeq	Phase_I	149565216	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																					0.368	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
NEB	4703	broad.mit.edu	37	2	152348274	152348274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:152348274C>T	ENST00000172853.10	-	146	19652	c.19505G>A	c.(19504-19506)cGt>cAt	p.R6502H	NEB_ENST00000397345.3_Missense_Mutation_p.R8358H|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000409198.1_Missense_Mutation_p.R6502H|NEB_ENST00000427231.2_Missense_Mutation_p.R8358H|NEB_ENST00000397336.2_Missense_Mutation_p.R333H|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Missense_Mutation_p.R271H|NEB_ENST00000604864.1_Missense_Mutation_p.R8358H|NEB_ENST00000603639.1_Missense_Mutation_p.R8358H			P20929	NEBU_HUMAN	nebulin	6502	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R6502H(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGATTAGTACGCCAGACACG	0.413																																					p.R8358H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25073A	2						.						68.0	61.0	63.0					2																	152348274		1904	4123	6027	152056520	SO:0001583	missense	4703	exon179			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19505G>A	2.37:g.152348274C>T	ENSP00000172853:p.Arg6502His	Somatic		Capture	Illumina HiSeq	Phase_I	152056520	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.597571|5.597571	0.96602|0.96602	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337;ENST00000434685	T;T;T;T;T;T;T|.	0.08720|.	3.22;3.27;3.27;3.06;3.22;3.84;4.02|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.983;1.0;0.994|.	D;D;D;P;D;P|.	0.83275|.	0.987;0.996;0.991;0.776;0.996;0.737|.	T|T	0.77694|0.77694	-0.2492|-0.2492	10|5	0.62326|.	D|.	0.03|.	.|.	19.2633|19.2633	0.93977|0.93977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	271;333;271;6502;2840;8358|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5|.	.;.;.;NEBU_HUMAN;.;.|.	H|I	6502;8358;8358;2458;2840;6502;333;271|492;599	ENSP00000386259:R6502H;ENSP00000380505:R8358H;ENSP00000416578:R8358H;ENSP00000410961:R2840H;ENSP00000172853:R6502H;ENSP00000380497:R333H;ENSP00000427083:R271H|.	ENSP00000172853:R6502H|.	R|V	-|-	2|1	0|0	NEB|NEB	152056520|152056520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.762000|7.762000	0.85270|0.85270	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152466553	152466553	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:152466553A>G	ENST00000172853.10	-	77	11518	c.11371T>C	c.(11371-11373)Tgt>Cgt	p.C3791R	NEB_ENST00000397345.3_Missense_Mutation_p.C4034R|NEB_ENST00000409198.1_Missense_Mutation_p.C3791R|NEB_ENST00000427231.2_Missense_Mutation_p.C4034R|NEB_ENST00000604864.1_Missense_Mutation_p.C4034R|NEB_ENST00000603639.1_Missense_Mutation_p.C4034R			P20929	NEBU_HUMAN	nebulin	3791					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.C3791R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTATGGCACACATAATCTTG	0.408																																					p.C4034R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T12100C	2						.						165.0	152.0	156.0					2																	152466553		1911	4134	6045	152174799	SO:0001583	missense	4703	exon81			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11371T>C	2.37:g.152466553A>G	ENSP00000172853:p.Cys3791Arg	Somatic		Capture	Illumina HiSeq	Phase_I	152174799	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	16.80	3.223402	0.58668	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.75	4.56	0.56223	.	0.250254	0.42053	D	0.000764	T	0.22666	0.0547	N	0.11560	0.145	0.80722	D	1	B	0.30542	0.284	B	0.40038	0.317	T	0.05370	-1.0889	10	0.05721	T	0.95	.	12.367	0.55234	0.8735:0.0:0.0:0.1265	.	3791	P20929	NEBU_HUMAN	R	3791;4034;4034;3791	ENSP00000386259:C3791R;ENSP00000380505:C4034R;ENSP00000416578:C4034R;ENSP00000172853:C3791R	ENSP00000172853:C3791R	C	-	1	0	NEB	152174799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.598000	0.54038	1.063000	0.40649	0.528000	0.53228	TGT		0.408	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152511795	152511795	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:152511795G>A	ENST00000172853.10	-	51	6943	c.6796C>T	c.(6796-6798)Ctg>Ttg	p.L2266L	NEB_ENST00000397345.3_Silent_p.L2266L|NEB_ENST00000409198.1_Silent_p.L2266L|NEB_ENST00000427231.2_Silent_p.L2266L|NEB_ENST00000604864.1_Silent_p.L2266L|NEB_ENST00000603639.1_Silent_p.L2266L			P20929	NEBU_HUMAN	nebulin	2266					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L2266L(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACTATACAGTGTTTGATTC	0.264																																					p.L2266L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6796T	2						.						92.0	76.0	81.0					2																	152511795		1803	4067	5870	152220041	SO:0001819	synonymous_variant	4703	exon51			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6796C>T	2.37:g.152511795G>A		Somatic		Capture	Illumina HiSeq	Phase_I	152220041	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.264	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152522864	152522864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:152522864G>T	ENST00000172853.10	-	41	4918	c.4771C>A	c.(4771-4773)Ctc>Atc	p.L1591I	NEB_ENST00000397345.3_Missense_Mutation_p.L1591I|NEB_ENST00000409198.1_Missense_Mutation_p.L1591I|NEB_ENST00000427231.2_Missense_Mutation_p.L1591I|NEB_ENST00000604864.1_Missense_Mutation_p.L1591I|NEB_ENST00000603639.1_Missense_Mutation_p.L1591I			P20929	NEBU_HUMAN	nebulin	1591					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L1591I(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAAGACTGAGAAATCCAACT	0.428																																					p.L1591I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C4771A	2						.						224.0	199.0	207.0					2																	152522864		1909	4127	6036	152231110	SO:0001583	missense	4703	exon41			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4771C>A	2.37:g.152522864G>T	ENSP00000172853:p.Leu1591Ile	Somatic		Capture	Illumina HiSeq	Phase_I	152231110	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.789531	0.90367	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.38;3.44;3.44;3.38	5.76	5.76	0.90799	.	0.190147	0.45606	D	0.000343	T	0.07954	0.0199	N	0.19112	0.55	0.80722	D	1	B	0.25743	0.133	B	0.33196	0.159	T	0.41070	-0.9529	10	0.45353	T	0.12	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	1591	P20929	NEBU_HUMAN	I	1591	ENSP00000386259:L1591I;ENSP00000380505:L1591I;ENSP00000416578:L1591I;ENSP00000172853:L1591I	ENSP00000172853:L1591I	L	-	1	0	NEB	152231110	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.863000	0.87023	2.721000	0.93114	0.591000	0.81541	CTC		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152548407	152548407	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:152548407C>A	ENST00000172853.10	-	23	2329	c.2182G>T	c.(2182-2184)Gca>Tca	p.A728S	NEB_ENST00000397345.3_Missense_Mutation_p.A728S|NEB_ENST00000409198.1_Missense_Mutation_p.A728S|NEB_ENST00000427231.2_Missense_Mutation_p.A728S|NEB_ENST00000604864.1_Missense_Mutation_p.A728S|NEB_ENST00000603639.1_Missense_Mutation_p.A728S			P20929	NEBU_HUMAN	nebulin	728					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A728S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGATTGCTTCATATTCT	0.343																																					p.A728S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2182T	2						.						142.0	126.0	131.0					2																	152548407		1880	4112	5992	152256653	SO:0001583	missense	4703	exon23			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2182G>T	2.37:g.152548407C>A	ENSP00000172853:p.Ala728Ser	Somatic		Capture	Illumina HiSeq	Phase_I	152256653	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	17.79	3.475414	0.63737	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.38;3.4;3.4;3.38	5.78	4.89	0.63831	.	0.329460	0.25964	N	0.027164	T	0.07683	0.0193	L	0.43923	1.385	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.17722	0.006;0.019	T	0.18745	-1.0327	10	0.14252	T	0.57	.	16.4477	0.83947	0.1319:0.8681:0.0:0.0	.	361;728	Q86TG3;P20929	.;NEBU_HUMAN	S	728	ENSP00000386259:A728S;ENSP00000380505:A728S;ENSP00000416578:A728S;ENSP00000172853:A728S	ENSP00000172853:A728S	A	-	1	0	NEB	152256653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.702000	0.68332	1.432000	0.47375	0.591000	0.81541	GCA		0.343	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152548665	152548665	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:152548665A>C	ENST00000172853.10	-	22	2161	c.2014T>G	c.(2014-2016)Tta>Gta	p.L672V	NEB_ENST00000397345.3_Missense_Mutation_p.L672V|NEB_ENST00000409198.1_Missense_Mutation_p.L672V|NEB_ENST00000427231.2_Missense_Mutation_p.L672V|NEB_ENST00000604864.1_Missense_Mutation_p.L672V|NEB_ENST00000603639.1_Missense_Mutation_p.L672V			P20929	NEBU_HUMAN	nebulin	672					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L672V(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACATATAAGTCTTTATAT	0.383																																					p.L672V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2014G	2						.						150.0	141.0	144.0					2																	152548665		1878	4112	5990	152256911	SO:0001583	missense	4703	exon22			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2014T>G	2.37:g.152548665A>C	ENSP00000172853:p.Leu672Val	Somatic		Capture	Illumina HiSeq	Phase_I	152256911	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	1.465	-0.561471	0.03939	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05258	3.47;3.48;3.48;3.47	5.82	2.01	0.26516	.	0.920349	0.09197	N	0.835219	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.17098	0.001;0.017	T	0.49093	-0.8975	10	0.09590	T	0.72	.	1.6788	0.02827	0.4378:0.2901:0.1467:0.1254	.	305;672	Q86TG3;P20929	.;NEBU_HUMAN	V	672	ENSP00000386259:L672V;ENSP00000380505:L672V;ENSP00000416578:L672V;ENSP00000172853:L672V	ENSP00000172853:L672V	L	-	1	2	NEB	152256911	0.466000	0.25823	0.080000	0.20451	0.198000	0.23893	1.022000	0.30052	0.092000	0.17331	-0.361000	0.07541	TTA		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
GPD2	2820	broad.mit.edu	37	2	157367337	157367337	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:157367337G>T	ENST00000310454.6	+	4	676	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.D102Y|GPD2_ENST00000540309.1_Missense_Mutation_p.D102Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D102Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	102					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.D102Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGAAAGAGATGATTTCTCATC	0.378																																					p.D102Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304T	2						.						130.0	126.0	127.0					2																	157367337		2203	4300	6503	157075583	SO:0001583	missense	2820	exon4				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.304G>T	2.37:g.157367337G>T	ENSP00000308610:p.Asp102Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	157075583	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989011	0.74589	.	.	ENSG00000115159	ENST00000415049;ENST00000310454;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.74	5.74	0.90152	FAD dependent oxidoreductase (1);FAD-dependent glycerol-3-phosphate dehydrogenase (1);	0.042909	0.85682	D	0.000000	D	0.95796	0.8632	H	0.99425	4.56	0.80722	D	1	P	0.52842	0.956	D	0.75484	0.986	D	0.97385	0.9985	10	0.87932	D	0	.	19.9004	0.96983	0.0:0.0:1.0:0.0	.	102	P43304	GPDM_HUMAN	Y	102	ENSP00000412621:D102Y;ENSP00000308610:D102Y;ENSP00000409708:D102Y;ENSP00000440892:D102Y;ENSP00000386425:D102Y	ENSP00000308610:D102Y	D	+	1	0	GPD2	157075583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.428000	0.97476	2.709000	0.92574	0.650000	0.86243	GAT		0.378	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
GALNT5	11227	broad.mit.edu	37	2	158115271	158115271	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:158115271G>A	ENST00000259056.4	+	1	1162	c.677G>A	c.(676-678)aGa>aAa	p.R226K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	226					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R226K(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGTACTGATAGACCAAAGCAG	0.502																																					p.R226K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	2						.						53.0	55.0	55.0					2																	158115271		2203	4300	6503	157823517	SO:0001583	missense	11227	exon1			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.677G>A	2.37:g.158115271G>A	ENSP00000259056:p.Arg226Lys	Somatic		Capture	Illumina HiSeq	Phase_I	157823517	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332165	0.24167	.	.	ENSG00000136542	ENST00000259056	T	0.55588	0.51	5.44	0.97	0.19692	.	3.286790	0.00520	N	0.000194	T	0.35799	0.0944	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06881	-1.0802	10	0.13470	T	0.59	.	0.6868	0.00884	0.3131:0.1643:0.3535:0.1691	.	226	Q7Z7M9	GALT5_HUMAN	K	226	ENSP00000259056:R226K	ENSP00000259056:R226K	R	+	2	0	GALNT5	157823517	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	0.028000	0.13644	0.344000	0.23847	0.655000	0.94253	AGA		0.502	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
GALNT5	11227	broad.mit.edu	37	2	158142586	158142586	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:158142586C>T	ENST00000259056.4	+	3	2166	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	561	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R561C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCGGATTCTTCGCCTCAAAGA	0.353																																					p.R561C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1681T	2						.						71.0	76.0	74.0					2																	158142586		2203	4300	6503	157850832	SO:0001583	missense	11227	exon3			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1681C>T	2.37:g.158142586C>T	ENSP00000259056:p.Arg561Cys	Somatic		Capture	Illumina HiSeq	Phase_I	157850832	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885785	0.91814	.	.	ENSG00000136542	ENST00000259056	T	0.65916	-0.18	5.87	5.87	0.94306	Glycosyl transferase, family 2 (1);	0.262564	0.43579	D	0.000550	D	0.83018	0.5163	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.85333	0.1091	10	0.87932	D	0	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	561	Q7Z7M9	GALT5_HUMAN	C	561	ENSP00000259056:R561C	ENSP00000259056:R561C	R	+	1	0	GALNT5	157850832	0.997000	0.39634	0.993000	0.49108	0.775000	0.43874	5.646000	0.67916	2.785000	0.95823	0.655000	0.94253	CGC		0.353	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
ERMN	57471	broad.mit.edu	37	2	158178085	158178085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:158178085C>A	ENST00000410096.1	-	3	844	c.553G>T	c.(553-555)Gaa>Taa	p.E185*	ERMN_ENST00000535935.1_Nonsense_Mutation_p.E79*|ERMN_ENST00000420719.2_Nonsense_Mutation_p.E165*|ERMN_ENST00000397283.2_Nonsense_Mutation_p.E198*	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	185					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.E198*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						tcatcaATTTCTTCATCCCAA	0.358																																					p.E185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G553T	2						.						153.0	144.0	147.0					2																	158178085		1924	4135	6059	157886331	SO:0001587	stop_gained	57471	exon3			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.553G>T	2.37:g.158178085C>A	ENSP00000387047:p.Glu185*	Somatic		Capture	Illumina HiSeq	Phase_I	157886331	NM_020711	B4DKA6|Q9ULN1	Nonsense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175405	0.57692	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.69	5.69	0.88448	.	0.120042	0.38217	N	0.001764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.6862	10.7625	0.46272	0.0:0.9139:0.0:0.0861	.	.	.	.	X	185;198;79;165	.	ENSP00000380453:E198X	E	-	1	0	ERMN	157886331	1.000000	0.71417	0.997000	0.53966	0.357000	0.29423	3.264000	0.51553	2.688000	0.91661	0.655000	0.94253	GAA		0.358	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959	
CYTIP	9595	broad.mit.edu	37	2	158283883	158283883	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:158283883C>T	ENST00000264192.3	-	6	647	c.526G>A	c.(526-528)Gca>Aca	p.A176T	CYTIP_ENST00000540637.1_Missense_Mutation_p.A70T	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	176	Interaction with CYTH1.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)		p.A176T(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGCAGCTTTGCTTCAAGCTCC	0.353																																					p.A176T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526A	2						.						66.0	64.0	65.0					2																	158283883		2201	4298	6499	157992129	SO:0001583	missense	9595	exon6			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.526G>A	2.37:g.158283883C>T	ENSP00000264192:p.Ala176Thr	Somatic		Capture	Illumina HiSeq	Phase_I	157992129	NM_004288	B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563450	0.45694	.	.	ENSG00000115165	ENST00000264192;ENST00000540637;ENST00000418920	T;T;T	0.48201	2.16;0.82;1.45	6.01	4.15	0.48705	.	0.485050	0.24647	N	0.036756	T	0.34395	0.0896	L	0.38175	1.15	0.26270	N	0.978448	B	0.13145	0.007	B	0.17433	0.018	T	0.17930	-1.0353	10	0.39692	T	0.17	-2.9788	6.5068	0.22200	0.0:0.7273:0.0:0.2727	.	176	O60759	CYTIP_HUMAN	T	176;70;70	ENSP00000264192:A176T;ENSP00000440801:A70T;ENSP00000394308:A70T	ENSP00000264192:A176T	A	-	1	0	CYTIP	157992129	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.169000	0.31871	1.474000	0.48178	0.650000	0.86243	GCA		0.353	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288	
PKP4	8502	broad.mit.edu	37	2	159519815	159519815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:159519815C>T	ENST00000389759.3	+	15	2547	c.2435C>T	c.(2434-2436)tCg>tTg	p.S812L	PKP4_ENST00000389757.3_Missense_Mutation_p.S812L|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	812					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S812L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAGGACTGTCGAAGTCCCCC	0.483										HNSCC(62;0.18)																											p.S812L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2435T	2						.						76.0	71.0	72.0					2																	159519815		2203	4300	6503	159228061	SO:0001583	missense	8502	exon15			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2435C>T	2.37:g.159519815C>T	ENSP00000374409:p.Ser812Leu	Somatic		Capture	Illumina HiSeq	Phase_I	159228061	NM_003628	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509605	0.85282	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.81821	-1.54;-1.54	5.62	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.125962	0.56097	D	0.000040	D	0.89291	0.6673	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.994	P;D;B	0.83275	0.806;0.996;0.415	D	0.90526	0.4492	10	0.72032	D	0.01	-7.1936	16.2652	0.82574	0.0:0.8671:0.1329:0.0	.	767;812;812	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	L	812	ENSP00000374407:S812L;ENSP00000374409:S812L	ENSP00000374407:S812L	S	+	2	0	PKP4	159228061	1.000000	0.71417	0.815000	0.32552	0.806000	0.45545	7.818000	0.86416	1.305000	0.44909	0.655000	0.94253	TCG		0.483	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
LY75	4065	broad.mit.edu	37	2	160706634	160706634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:160706634G>A	ENST00000263636.4	-	23	3034	c.3007C>T	c.(3007-3009)Ctt>Ttt	p.L1003F	LY75_ENST00000554112.1_Missense_Mutation_p.L1003F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1003F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1003F|LY75_ENST00000553424.1_Missense_Mutation_p.L1003F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1003	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L1003F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATATCCGGAAGCAAGGATGTA	0.308																																					p.L1003F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3007T	2						.						71.0	69.0	70.0					2																	160706634		2203	4299	6502	160414880	SO:0001583	missense	4065	exon23			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3007C>T	2.37:g.160706634G>A	ENSP00000263636:p.Leu1003Phe	Somatic		Capture	Illumina HiSeq	Phase_I	160414880	NM_001198760	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230479	0.58777	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.54	2.8	0.32819	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.284035	0.18908	N	0.127847	T	0.28101	0.0693	M	0.76328	2.33	0.53005	D	0.999962	P;P;B	0.40180	0.457;0.705;0.117	B;B;B	0.42995	0.191;0.404;0.063	T	0.02220	-1.1193	10	0.52906	T	0.07	-3.9178	9.2869	0.37762	0.2096:0.0:0.7904:0.0	.	1003;1003;1003	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	F	1003	ENSP00000451511:L1003F;ENSP00000451446:L1003F;ENSP00000263636:L1003F;ENSP00000423463:L1003F;ENSP00000421035:L1003F	ENSP00000423463:L1003F	L	-	1	0	LY75;LY75-CD302	160414880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.580000	0.46068	0.320000	0.23234	0.591000	0.81541	CTT		0.308	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
LY75	4065	broad.mit.edu	37	2	160714927	160714927	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:160714927A>G	ENST00000263636.4	-	16	2356	c.2329T>C	c.(2329-2331)Ttg>Ctg	p.L777L	LY75_ENST00000554112.1_Silent_p.L777L|LY75-CD302_ENST00000505052.1_Silent_p.L777L|LY75-CD302_ENST00000504764.1_Silent_p.L777L|LY75_ENST00000553424.1_Silent_p.L777L	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	777	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L777L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AAAGGCCTCAAATAAATAAAT	0.353																																					p.L777L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2329C	2						.						100.0	99.0	99.0					2																	160714927		2203	4300	6503	160423173	SO:0001819	synonymous_variant	4065	exon16			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2329T>C	2.37:g.160714927A>G		Somatic		Capture	Illumina HiSeq	Phase_I	160423173	NM_001198760	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																				0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
TANK	10010	broad.mit.edu	37	2	162091890	162091890	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:162091890C>T	ENST00000392749.2	+	8	1378	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	TANK_ENST00000405852.1_Missense_Mutation_p.R406W|TANK_ENST00000259075.2_Missense_Mutation_p.S380L|TANK_ENST00000402568.1_3'UTR|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_3'UTR|AC009299.2_ENST00000445372.1_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	380					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S380L(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GACAGTGACTCGGTGGTACTA	0.418																																					p.S380L												.	.	3	Substitution - Missense(3)	large_intestine(2)|kidney(1)	c.C1139T	2						.						172.0	164.0	167.0					2																	162091890		2203	4300	6503	161800136	SO:0001583	missense	10010	exon8			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1139C>T	2.37:g.162091890C>T	ENSP00000376505:p.Ser380Leu	Somatic		Capture	Illumina HiSeq	Phase_I	161800136	NM_001199135	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.058|5.058	0.196409|0.196409	0.09599|0.09599	.|.	.|.	ENSG00000136560|ENSG00000136560	ENST00000405852|ENST00000259075;ENST00000392749;ENST00000439442	T|T;T;T	0.35605|0.19806	1.3|2.12;2.12;2.18	5.63|5.63	4.38|4.38	0.52667|0.52667	.|.	.|0.153629	.|0.42294	.|N	.|0.000723	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.00960|0.00960	-1.095|-1.095	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.26985|0.26985	-1.0087|-1.0087	7|10	0.51188|0.02654	T|T	0.08|1	-4.8203|-4.8203	10.3619|10.3619	0.43998|0.43998	0.0:0.0855:0.0:0.9145|0.0:0.0855:0.0:0.9145	.|.	.|380	.|Q92844	.|TANK_HUMAN	W|L	406|380;380;153	ENSP00000385487:R406W|ENSP00000259075:S380L;ENSP00000376505:S380L;ENSP00000387439:S153L	ENSP00000385487:R406W|ENSP00000259075:S380L	R|S	+|+	1|2	2|0	TANK|TANK	161800136|161800136	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.864000|0.864000	0.49448|0.49448	2.765000|2.765000	0.47621|0.47621	0.845000|0.845000	0.35118|0.35118	-0.218000|-0.218000	0.12543|0.12543	CGG|TCG		0.418	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484	
DPP4	1803	broad.mit.edu	37	2	162873624	162873624	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:162873624C>A	ENST00000360534.3	-	17	2022	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	488					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D488Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATACCTTTATCATTCACGCTG	0.343																																					p.D488Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1462T	2						.						63.0	64.0	64.0					2																	162873624		2203	4300	6503	162581870	SO:0001583	missense	1803	exon17			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1462G>T	2.37:g.162873624C>A	ENSP00000353731:p.Asp488Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	162581870	NM_001935	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835975	0.50951	.	.	ENSG00000197635	ENST00000360534	D	0.96104	-3.91	5.63	3.69	0.42338	.	0.549805	0.18870	N	0.128868	D	0.95159	0.8431	M	0.82193	2.58	0.37736	D	0.92544	P	0.42961	0.795	B	0.42062	0.374	D	0.96109	0.9075	10	0.72032	D	0.01	-14.0265	12.1117	0.53844	0.1306:0.7358:0.1336:0.0	.	488	P27487	DPP4_HUMAN	Y	488	ENSP00000353731:D488Y	ENSP00000353731:D488Y	D	-	1	0	DPP4	162581870	0.866000	0.29940	0.172000	0.22920	0.102000	0.19082	2.123000	0.41996	1.468000	0.48064	0.655000	0.94253	GAT		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GATAATACTTCGCCTCTTTAC	0.473																																					p.A465A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1395A	2						.						128.0	116.0	120.0					2																	162875264		2203	4300	6503	162583510	SO:0001819	synonymous_variant	1803	exon16			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1395G>A	2.37:g.162875264C>T		Somatic		Capture	Illumina HiSeq	Phase_I	162583510	NM_001935	Q53TN1	Silent	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																				0.473	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
IFIH1	64135	broad.mit.edu	37	2	163144663	163144663	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:163144663A>C	ENST00000263642.2	-	5	1472	c.1077T>G	c.(1075-1077)gtT>gtG	p.V359V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	359	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.V359V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAGAACTATAACTTTTCCAG	0.363																																					p.V359V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1077G	2						.						96.0	98.0	97.0					2																	163144663		2203	4300	6503	162852909	SO:0001819	synonymous_variant	64135	exon5			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1077T>G	2.37:g.163144663A>C		Somatic		Capture	Illumina HiSeq	Phase_I	162852909	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	CCDS2217.1																																																																																				0.363	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	
COBLL1	22837	broad.mit.edu	37	2	165551344	165551344	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:165551344A>C	ENST00000392717.2	-	13	2790	c.2786T>G	c.(2785-2787)tTt>tGt	p.F929C	COBLL1_ENST00000342193.4_Missense_Mutation_p.F891C|COBLL1_ENST00000409184.3_Missense_Mutation_p.F891C|COBLL1_ENST00000375458.2_Missense_Mutation_p.F853C|COBLL1_ENST00000194871.6_Missense_Mutation_p.F958C			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	929						extracellular vesicular exosome (GO:0070062)		p.F891C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CCGAGATTTAAATTTTGATTC	0.428																																					p.F891C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2672G	2						.						42.0	44.0	44.0					2																	165551344		2203	4300	6503	165259590	SO:0001583	missense	22837	exon12			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2786T>G	2.37:g.165551344A>C	ENSP00000376478:p.Phe929Cys	Somatic		Capture	Illumina HiSeq	Phase_I	165259590	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	A	13.64	2.298730	0.40694	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	3.73	0.42828	.	1.213170	0.05732	N	0.599775	T	0.40595	0.1123	L	0.36672	1.1	0.09310	N	1	P;D;D	0.54601	0.931;0.967;0.959	B;P;P	0.51999	0.439;0.525;0.687	T	0.19321	-1.0309	9	0.52906	T	0.07	-1.9596	6.4334	0.21809	0.5221:0.3916:0.0863:0.0	.	929;958;891	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	C	853;891;891;929;958	.	ENSP00000194871:F958C	F	-	2	0	COBLL1	165259590	0.152000	0.22762	0.788000	0.31933	0.942000	0.58702	0.651000	0.24873	1.080000	0.41073	0.533000	0.62120	TTT		0.428	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SCN3A	6328	broad.mit.edu	37	2	165946973	165946973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:165946973C>T	ENST00000360093.3	-	28	6181	c.5690G>A	c.(5689-5691)cGt>cAt	p.R1897H	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1897H|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1848H|SCN3A_ENST00000540861.1_Missense_Mutation_p.R380H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1897					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1897H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTTGTTTACGTTTCAAAGT	0.383																																					p.R1897H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5690A	2						.						71.0	67.0	69.0					2																	165946973		2203	4300	6503	165655219	SO:0001583	missense	6328	exon28			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5690G>A	2.37:g.165946973C>T	ENSP00000353206:p.Arg1897His	Somatic		Capture	Illumina HiSeq	Phase_I	165655219	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	C	18.11	3.550080	0.65311	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.97232	-4.11;-4.11;-4.03;-4.3	5.72	4.85	0.62838	.	0.000000	0.64402	D	0.000006	D	0.98419	0.9474	M	0.86740	2.835	0.58432	D	0.999994	B;D;D	0.76494	0.014;0.999;0.999	B;D;P	0.71656	0.006;0.974;0.837	D	0.98991	1.0808	10	0.59425	D	0.04	.	14.6893	0.69072	0.0:0.9305:0.0:0.0695	.	1848;1848;1897	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	1897;1897;1848;380	ENSP00000353206:R1897H;ENSP00000283254:R1897H;ENSP00000386726:R1848H;ENSP00000439920:R380H	ENSP00000283254:R1897H	R	-	2	0	SCN3A	165655219	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	1.428000	0.47296	-0.136000	0.14681	CGT		0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN3A	6328	broad.mit.edu	37	2	165984234	165984234	+	Silent	SNP	G	G	A	rs200804723	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:165984234G>A	ENST00000360093.3	-	18	3791	c.3300C>T	c.(3298-3300)acC>acT	p.T1100T	SCN3A_ENST00000283254.7_Silent_p.T1100T|SCN3A_ENST00000409101.3_Silent_p.T1051T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1100					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T1100T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCACTGTGACGGTGAGGCTGG	0.408													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18130	0.0		0.001	False		,,,				2504	0.0				p.T1100T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3300T	2						.						109.0	101.0	104.0					2																	165984234		2203	4300	6503	165692480	SO:0001819	synonymous_variant	6328	exon18			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3300C>T	2.37:g.165984234G>A		Somatic		Capture	Illumina HiSeq	Phase_I	165692480	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.408	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN3A	6328	broad.mit.edu	37	2	166010994	166010994	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:166010994C>T	ENST00000360093.3	-	11	1839	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	450					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E450K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAAGCTGTTCGAGCATCTGC	0.403																																					p.E450K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1348A	2						.						117.0	113.0	114.0					2																	166010994		2203	4300	6503	165719240	SO:0001583	missense	6328	exon11			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1348G>A	2.37:g.166010994C>T	ENSP00000353206:p.Glu450Lys	Somatic		Capture	Illumina HiSeq	Phase_I	165719240	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.109195	0.77096	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96913	-4.17;-4.17;-4.15;-4.02	5.6	5.6	0.85130	.	0.100000	0.43579	D	0.000547	D	0.95214	0.8448	M	0.66439	2.03	0.80722	D	1	B;B;B;B;B	0.31837	0.342;0.342;0.198;0.198;0.198	B;B;B;B;B	0.23852	0.022;0.022;0.049;0.049;0.049	D	0.94142	0.7398	10	0.72032	D	0.01	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	450;450;450;450;450	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	450	ENSP00000353206:E450K;ENSP00000283254:E450K;ENSP00000386726:E450K;ENSP00000403348:E450K	ENSP00000283254:E450K	E	-	1	0	SCN3A	165719240	1.000000	0.71417	0.915000	0.36163	0.980000	0.70556	7.818000	0.86416	2.636000	0.89361	0.591000	0.81541	GAA		0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
FAM49A	81553	broad.mit.edu	37	2	16743401	16743401	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:16743401G>T	ENST00000381323.3	-	6	527	c.307C>A	c.(307-309)Ctt>Att	p.L103I	FAM49A_ENST00000355549.2_Missense_Mutation_p.L103I|FAM49A_ENST00000406434.1_Missense_Mutation_p.L103I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	103						intracellular (GO:0005622)		p.L103I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AAACTCTGAAGAGCTTTTTCT	0.453																																					p.L103I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307A	2						.						67.0	75.0	72.0					2																	16743401		2203	4300	6503	16606882	SO:0001583	missense	81553	exon6			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.307C>A	2.37:g.16743401G>T	ENSP00000370724:p.Leu103Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16606882	NM_030797	B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356950	0.61293	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.53640	0.61;0.61;0.61	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	L	0.49455	1.56	0.80722	D	1	B	0.31893	0.345	B	0.39119	0.291	T	0.32295	-0.9912	10	0.29301	T	0.29	-13.5051	12.2867	0.54795	0.0773:0.0:0.9227:0.0	.	103	Q9H0Q0	FA49A_HUMAN	I	103	ENSP00000370724:L103I;ENSP00000384771:L103I;ENSP00000347744:L103I	ENSP00000347744:L103I	L	-	1	0	FAM49A	16606882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.953000	0.49105	2.798000	0.96311	0.650000	0.86243	CTT		0.453	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797	
SCN2A	6326	broad.mit.edu	37	2	166170238	166170238	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:166170238G>T	ENST00000375437.2	+	9	1433	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	SCN2A_ENST00000357398.3_Missense_Mutation_p.M381I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M381I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M381I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	381					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M381I(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCGTCTCATGACTCAAGACT	0.403																																					p.M381I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1143T	2						.						109.0	102.0	104.0					2																	166170238		2203	4300	6503	165878484	SO:0001583	missense	6326	exon8			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1143G>T	2.37:g.166170238G>T	ENSP00000364586:p.Met381Ile	Somatic		Capture	Illumina HiSeq	Phase_I	165878484	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141053	0.94560	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.77	5.77	0.91146	Ion transport (1);	0.128378	0.56097	D	0.000037	D	0.98779	0.9589	L	0.46157	1.445	0.80722	D	1	D;D	0.57899	0.976;0.981	D;D	0.77004	0.98;0.989	D	0.99905	1.1178	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	381;381	Q99250-2;Q99250	.;SCN2A_HUMAN	I	381	ENSP00000406454:M381I;ENSP00000364586:M381I;ENSP00000349973:M381I;ENSP00000283256:M381I;ENSP00000364576:M381I	ENSP00000283256:M381I	M	+	3	0	SCN2A	165878484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	ATG		0.403	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
CSRNP3	80034	broad.mit.edu	37	2	166536027	166536027	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:166536027G>A	ENST00000342316.4	+	5	1794	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E540K|CSRNP3_ENST00000314499.7_Missense_Mutation_p.E508K	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	508					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E508K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTCCTCTTCCGAAAATGATAG	0.507																																					p.E508K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1522A	2						.						89.0	75.0	80.0					2																	166536027		2203	4300	6503	166244273	SO:0001583	missense	80034	exon7			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1522G>A	2.37:g.166536027G>A	ENSP00000344042:p.Glu508Lys	Somatic		Capture	Illumina HiSeq	Phase_I	166244273	NM_001172173	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997648	0.54147	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.56941	0.43;0.43;0.43	5.88	5.88	0.94601	.	0.102674	0.64402	D	0.000003	T	0.39860	0.1094	L	0.27053	0.805	0.58432	D	0.999991	B	0.33198	0.401	B	0.20577	0.03	T	0.17440	-1.0369	9	.	.	.	-19.2419	20.2422	0.98381	0.0:0.0:1.0:0.0	.	508	Q8WYN3	CSRN3_HUMAN	K	508;508;540	ENSP00000318258:E508K;ENSP00000344042:E508K;ENSP00000387195:E540K	.	E	+	1	0	CSRNP3	166244273	1.000000	0.71417	0.734000	0.30879	0.950000	0.60333	8.518000	0.90559	2.782000	0.95742	0.655000	0.94253	GAA		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
TTC21B	79809	broad.mit.edu	37	2	166767864	166767864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:166767864G>T	ENST00000243344.7	-	18	2571	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	812					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.L812I(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GCATGCTGAAGAACTTTTTCT	0.343																																					p.L812I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2434A	2						.						141.0	145.0	143.0					2																	166767864		2203	4300	6503	166476110	SO:0001583	missense	79809	exon18			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2434C>A	2.37:g.166767864G>T	ENSP00000243344:p.Leu812Ile	Somatic		Capture	Illumina HiSeq	Phase_I	166476110	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115119	0.94339	.	.	ENSG00000123607	ENST00000243344	D	0.89415	-2.51	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	L	0.56769	1.78	0.80722	D	1	P	0.44521	0.837	P	0.51055	0.657	D	0.90120	0.4198	10	0.40728	T	0.16	-11.0983	19.812	0.96551	0.0:0.0:1.0:0.0	.	812	Q7Z4L5	TT21B_HUMAN	I	812	ENSP00000243344:L812I	ENSP00000243344:L812I	L	-	1	0	TTC21B	166476110	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.858000	0.86971	2.683000	0.91414	0.557000	0.71058	CTT		0.343	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
SCN1A	6323	broad.mit.edu	37	2	166848171	166848171	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:166848171T>C	ENST00000303395.4	-	26	5613	c.5614A>G	c.(5614-5616)Aca>Gca	p.T1872A	SCN1A_ENST00000409050.1_Missense_Mutation_p.T1844A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1861A|SCN1A_ENST00000423058.2_Missense_Mutation_p.T1872A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1872					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.T1861A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCCGCTTTGTAAAAGCAAAT	0.473																																					p.T1844A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5530G	2						.						82.0	77.0	79.0					2																	166848171		2203	4300	6503	166556417	SO:0001583	missense	6323	exon26			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5614A>G	2.37:g.166848171T>C	ENSP00000303540:p.Thr1872Ala	Somatic		Capture	Illumina HiSeq	Phase_I	166556417	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418102	0.83449	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96459	-4.02;-4.02;-3.98;-3.96	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	D	0.98317	0.9442	M	0.88512	2.96	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	D	0.99466	1.0944	10	0.87932	D	0	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	1861	P35498-2	.	A	1872;1872;1861;1844	ENSP00000407030:T1872A;ENSP00000303540:T1872A;ENSP00000364554:T1861A;ENSP00000386312:T1844A	ENSP00000303540:T1872A	T	-	1	0	SCN1A	166556417	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.994000	0.88315	2.251000	0.74343	0.528000	0.53228	ACA		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN9A	6335	broad.mit.edu	37	2	167085265	167085265	+	Missense_Mutation	SNP	C	C	T	rs202050216		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:167085265C>T	ENST00000409435.1	-	21	4141	c.4142G>A	c.(4141-4143)cGa>cAa	p.R1381Q	SCN9A_ENST00000303354.6_Missense_Mutation_p.R1382Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1370Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1382Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1381			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel). {ECO:0000269|PubMed:20635406}.		behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTTTCCATCGCACATTTTG	0.393																																					p.R1370Q												.	.	0			c.G4109A	2						.						209.0	206.0	207.0					2																	167085265		1905	4151	6056	166793511	SO:0001583	missense	6335	exon22			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4142G>A	2.37:g.167085265C>T	ENSP00000386330:p.Arg1381Gln	None		Capture	Illumina HiSeq	Phase_I	166793511	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200107	0.94997	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.23	5.23	0.72850	.	0.000000	0.47455	D	0.000227	D	0.98118	0.9379	M	0.67569	2.06	0.58432	D	0.999993	D	0.58620	0.983	P	0.52217	0.693	D	0.98440	1.0586	10	0.49607	T	0.09	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	1370	E7EUN6	.	Q	1370;1382;1382;1381	ENSP00000386306:R1370Q;ENSP00000364536:R1382Q;ENSP00000304748:R1382Q;ENSP00000386330:R1381Q	ENSP00000304748:R1382Q	R	-	2	0	SCN9A	166793511	0.167000	0.22975	1.000000	0.80357	0.992000	0.81027	3.211000	0.51137	2.454000	0.82982	0.557000	0.71058	CGA		0.393	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167145007	167145007	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:167145007C>T	ENST00000409435.1	-	9	1253	c.1254G>A	c.(1252-1254)caG>caA	p.Q418Q	SCN9A_ENST00000303354.6_Silent_p.Q419Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.Q418Q|SCN9A_ENST00000375387.4_Silent_p.Q419Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	418					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.Q418Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTAATTCTTTCTGTTTAGCTT	0.363																																					p.Q418Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1254A	2						.						143.0	148.0	147.0					2																	167145007		1846	4107	5953	166853253	SO:0001819	synonymous_variant	6335	exon10			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1254G>A	2.37:g.167145007C>T		Somatic		Capture	Illumina HiSeq	Phase_I	166853253	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN7A	6332	broad.mit.edu	37	2	167322357	167322357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:167322357G>A	ENST00000409855.1	-	7	931	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	269					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R269*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGGGGCCATCGAAAACATTTA	0.383																																					p.R269X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C805T	2						.						115.0	108.0	110.0					2																	167322357		1815	4078	5893	167030603	SO:0001587	stop_gained	6332	exon7			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.805C>T	2.37:g.167322357G>A	ENSP00000386796:p.Arg269*	Somatic		Capture	Illumina HiSeq	Phase_I	167030603	NM_002976		Nonsense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809063	0.70797	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	.	.	.	5.48	1.71	0.24356	.	0.529195	0.16036	N	0.232622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2616	0.37616	0.3708:0.0:0.6292:0.0	.	.	.	.	X	269	.	ENSP00000259060:R269X	R	-	1	2	SCN7A	167030603	0.000000	0.05858	0.233000	0.24025	0.036000	0.12997	0.482000	0.22276	0.103000	0.17682	-0.225000	0.12378	CGA		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	broad.mit.edu	37	2	167759996	167759996	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:167759996T>G	ENST00000409728.1	+	2	93	c.4T>G	c.(4-6)Ttc>Gtc	p.F2V	XIRP2_ENST00000420519.1_Missense_Mutation_p.F2V|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2V|XIRP2_ENST00000409043.1_Missense_Mutation_p.F2V|XIRP2_ENST00000409756.2_Missense_Mutation_p.F2V|XIRP2_ENST00000409195.1_Missense_Mutation_p.F2V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.F2V(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCATCCATGTTCCCAATGCA	0.453																																					p.F2V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4G	2						.						69.0	66.0	67.0					2																	167759996		1899	4140	6039	167468242	SO:0001583	missense	129446	exon2			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.4T>G	2.37:g.167759996T>G	ENSP00000386619:p.Phe2Val	Somatic		Capture	Illumina HiSeq	Phase_I	167468242	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112982	0.77210	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82433	-1.6;-1.61;3.77;-1.6;-1.61;3.77	5.43	4.25	0.50352	.	.	.	.	.	T	0.78855	0.4349	.	.	.	0.21627	N	0.999612	P;P	0.40332	0.713;0.713	B;B	0.40477	0.209;0.33	T	0.69785	-0.5051	8	0.87932	D	0	-3.8197	9.3677	0.38234	0.0:0.0:0.1806:0.8194	.	2;2	A4UGR9-4;A4UGR9-6	.;.	V	2	ENSP00000386454:F2V;ENSP00000386619:F2V;ENSP00000386840:F2V;ENSP00000386724:F2V;ENSP00000415541:F2V;ENSP00000295237:F2V	ENSP00000295237:F2V	F	+	1	0	XIRP2	167468242	0.969000	0.33509	0.549000	0.28204	0.551000	0.35334	3.911000	0.56378	0.867000	0.35654	0.482000	0.46254	TTC		0.453	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168099723	168099723	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168099723A>C	ENST00000409195.1	+	9	1910	c.1821A>C	c.(1819-1821)gaA>gaC	p.E607D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E385D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E607D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	432					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E607D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGATCAAGAAATCATTGCTG	0.428																																					p.E385D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1155C	2						.						86.0	89.0	88.0					2																	168099723		1975	4142	6117	167807969	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1821A>C	2.37:g.168099723A>C	ENSP00000386840:p.Glu607Asp	Somatic		Capture	Illumina HiSeq	Phase_I	167807969	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881970	0.51908	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04862	3.55;3.55;3.54	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	M	0.84326	2.69	0.49130	D	0.999755	B;B;D	0.65815	0.058;0.096;0.995	B;B;D	0.62955	0.038;0.083;0.909	T	0.00756	-1.1579	10	0.72032	D	0.01	-22.1867	9.8326	0.40950	0.9226:0.0:0.0774:0.0	.	432;432;385	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	607;607;385	ENSP00000386840:E607D;ENSP00000295237:E607D;ENSP00000387255:E385D	ENSP00000295237:E607D	E	+	3	2	XIRP2	167807969	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.175000	0.42491	2.113000	0.64589	0.533000	0.62120	GAA		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168102214	168102214	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168102214A>G	ENST00000409195.1	+	9	4401	c.4312A>G	c.(4312-4314)Aca>Gca	p.T1438A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1216A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1438A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1263					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T1438A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTATATACGAACAGTAAGTGT	0.333																																					p.T1216A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3646G	2						.						68.0	60.0	62.0					2																	168102214		1838	4088	5926	167810460	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4312A>G	2.37:g.168102214A>G	ENSP00000386840:p.Thr1438Ala	Somatic		Capture	Illumina HiSeq	Phase_I	167810460	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212303	0.58452	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03242	4.01;4.01;4.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.996;0.999	T	0.00496	-1.1705	10	0.48119	T	0.1	-16.2044	14.8856	0.70567	1.0:0.0:0.0:0.0	.	1263;1263;1216	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	1438;1438;1216	ENSP00000386840:T1438A;ENSP00000295237:T1438A;ENSP00000387255:T1216A	ENSP00000295237:T1438A	T	+	1	0	XIRP2	167810460	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.957000	0.93082	2.159000	0.67721	0.460000	0.39030	ACA		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168102643	168102643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168102643C>T	ENST00000409195.1	+	9	4830	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R1359*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R1581*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1406					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R1581*(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGGGATGTTCGAATGGCAAA	0.378																																					p.R1359X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4075T	2						.						45.0	42.0	43.0					2																	168102643		1835	4092	5927	167810889	SO:0001587	stop_gained	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4741C>T	2.37:g.168102643C>T	ENSP00000386840:p.Arg1581*	Somatic		Capture	Illumina HiSeq	Phase_I	167810889	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	44	11.107693	0.99517	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.56	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2102	12.7599	0.57359	0.3068:0.6932:0.0:0.0	.	.	.	.	X	1581;1581;1359	.	ENSP00000295237:R1581X	R	+	1	2	XIRP2	167810889	0.338000	0.24775	0.999000	0.59377	0.993000	0.82548	0.929000	0.28844	1.295000	0.44724	0.563000	0.77884	CGA		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168103974	168103974	+	Silent	SNP	C	C	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168103974C>G	ENST00000409195.1	+	9	6161	c.6072C>G	c.(6070-6072)ggC>ggG	p.G2024G	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G1802G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G2024G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1849					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G2024G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCCCAAAGGCACTGTAAAGA	0.388																																					p.G1802G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5406G	2						.						56.0	52.0	53.0					2																	168103974		1837	4087	5924	167812220	SO:0001819	synonymous_variant	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6072C>G	2.37:g.168103974C>G		Somatic		Capture	Illumina HiSeq	Phase_I	167812220	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168106087	168106087	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168106087T>G	ENST00000409195.1	+	9	8274	c.8185T>G	c.(8185-8187)Tat>Gat	p.Y2729D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Y2507D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Y2729D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2554					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Y2729D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACCACAGCTATGAAAGTCA	0.353																																					p.Y2507D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7519G	2						.						82.0	78.0	80.0					2																	168106087		1842	4083	5925	167814333	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8185T>G	2.37:g.168106087T>G	ENSP00000386840:p.Tyr2729Asp	Somatic		Capture	Illumina HiSeq	Phase_I	167814333	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	5.041	0.193179	0.09599	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02472	4.28;4.28;4.28	6.07	2.36	0.29203	.	1.250890	0.05177	N	0.500678	T	0.03520	0.0101	L	0.51422	1.61	0.09310	N	1	B;B;B	0.34015	0.309;0.435;0.435	B;B;B	0.28139	0.039;0.086;0.086	T	0.50524	-0.8818	10	0.12103	T	0.63	-0.6586	8.2801	0.31896	0.0:0.3208:0.0:0.6792	.	2554;2554;2507	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	2729;2729;2507;143	ENSP00000386840:Y2729D;ENSP00000295237:Y2729D;ENSP00000387255:Y2507D	ENSP00000295237:Y2729D	Y	+	1	0	XIRP2	167814333	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	0.667000	0.25112	0.164000	0.19529	-0.408000	0.06270	TAT		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
STK39	27347	broad.mit.edu	37	2	168920022	168920022	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168920022A>G	ENST00000355999.4	-	14	2069	c.1364T>C	c.(1363-1365)gTt>gCt	p.V455A	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	455					cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)	p.V455A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TAATCTCAAAACGAGGTTCAC	0.333																																					p.V455A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1364C	2						.						118.0	108.0	111.0					2																	168920022		1818	4088	5906	168628268	SO:0001583	missense	27347	exon14			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.1364T>C	2.37:g.168920022A>G	ENSP00000348278:p.Val455Ala	Somatic		Capture	Illumina HiSeq	Phase_I	168628268	NM_013233	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.533810	0.64972	.	.	ENSG00000198648	ENST00000355999	T	0.33865	1.39	5.63	5.63	0.86233	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.386218	0.27164	N	0.020632	T	0.48714	0.1515	M	0.72118	2.19	0.58432	D	0.999998	B	0.33919	0.432	B	0.42625	0.393	T	0.51220	-0.8733	10	0.62326	D	0.03	-3.0472	16.1307	0.81436	1.0:0.0:0.0:0.0	.	455	Q9UEW8	STK39_HUMAN	A	455	ENSP00000348278:V455A	ENSP00000348278:V455A	V	-	2	0	STK39	168628268	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	6.414000	0.73318	2.263000	0.75096	0.533000	0.62120	GTT		0.333	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233	
STK39	27347	broad.mit.edu	37	2	168997223	168997223	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:168997223C>T	ENST00000355999.4	-	6	1379	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)	p.R225Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TACTTTATTTCGGGTAACATC	0.363																																					p.R225Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674A	2						.						90.0	96.0	94.0					2																	168997223		2080	4262	6342	168705469	SO:0001583	missense	27347	exon6			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.674G>A	2.37:g.168997223C>T	ENSP00000348278:p.Arg225Gln	Somatic		Capture	Illumina HiSeq	Phase_I	168705469	NM_013233	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	C	36	5.845336	0.97016	.	.	ENSG00000198648	ENST00000355999	T	0.65732	-0.17	5.56	5.56	0.83823	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	0.64638	0.2616	L	0.39633	1.23	0.80722	D	1	D	0.58970	0.984	P	0.48677	0.586	T	0.68131	-0.5490	10	0.87932	D	0	-8.3233	19.9052	0.97004	0.0:1.0:0.0:0.0	.	225	Q9UEW8	STK39_HUMAN	Q	225	ENSP00000348278:R225Q	ENSP00000348278:R225Q	R	-	2	0	STK39	168705469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.776000	0.95493	0.655000	0.94253	CGA		0.363	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233	
ABCB11	8647	broad.mit.edu	37	2	169788987	169788987	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:169788987G>A	ENST00000263817.6	-	24	3237	c.3113C>T	c.(3112-3114)aCc>aTc	p.T1038I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1038	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.T1038I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATAACTTGGGGTGTAAGAGAA	0.478																																					p.T1038I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3113T	2						.						90.0	90.0	90.0					2																	169788987		1950	4148	6098	169497233	SO:0001583	missense	8647	exon24			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3113C>T	2.37:g.169788987G>A	ENSP00000263817:p.Thr1038Ile	Somatic		Capture	Illumina HiSeq	Phase_I	169497233	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910756	0.92107	.	.	ENSG00000073734	ENST00000263817	D	0.81659	-1.52	5.69	5.69	0.88448	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.51914	1.62	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.77004	0.885;0.989	D	0.88169	0.2863	10	0.72032	D	0.01	.	19.804	0.96521	0.0:0.0:1.0:0.0	.	480;1038	B4DZQ8;O95342	.;ABCBB_HUMAN	I	1038	ENSP00000263817:T1038I	ENSP00000263817:T1038I	T	-	2	0	ABCB11	169497233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.678000	0.91216	0.655000	0.94253	ACC		0.478	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ABCB11	8647	broad.mit.edu	37	2	169792926	169792926	+	Silent	SNP	G	G	A	rs200127070		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:169792926G>A	ENST00000263817.6	-	22	2752	c.2628C>T	c.(2626-2628)atC>atT	p.I876I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	876	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.I876I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTATCATCCCGATCTGAGAGC	0.473																																					p.I876I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2628T	2						.	G		0,3928		0,0,1964	91.0	89.0	90.0		2628	-11.0	0.4	2		90	1,8303		0,1,4151	yes	coding-synonymous	ABCB11	NM_003742.2		0,1,6115	AA,AG,GG		0.012,0.0,0.0082		876/1322	169792926	1,12231	1964	4152	6116	169501172	SO:0001819	synonymous_variant	8647	exon22			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2628C>T	2.37:g.169792926G>A		Somatic		Capture	Illumina HiSeq	Phase_I	169501172	NM_003742	Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	CCDS46444.1																																																																																				0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ABCB11	8647	broad.mit.edu	37	2	169826626	169826626	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:169826626G>T	ENST00000263817.6	-	15	1862	c.1738C>A	c.(1738-1740)Ctg>Atg	p.L580M		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	580	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.L580M(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCCAAAAGCAGAATCTTGGGA	0.498																																					p.L580M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1738A	2						.						166.0	162.0	163.0					2																	169826626		1934	4160	6094	169534872	SO:0001583	missense	8647	exon15			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1738C>A	2.37:g.169826626G>T	ENSP00000263817:p.Leu580Met	Somatic		Capture	Illumina HiSeq	Phase_I	169534872	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939678	0.73557	.	.	ENSG00000073734	ENST00000263817	D	0.85258	-1.96	5.2	3.4	0.38934	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.987;1.0	D	0.89829	0.3994	10	0.87932	D	0	.	11.5494	0.50713	0.1469:0.0:0.8531:0.0	.	22;580	B4DZQ8;O95342	.;ABCBB_HUMAN	M	580	ENSP00000263817:L580M	ENSP00000263817:L580M	L	-	1	2	ABCB11	169534872	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	4.199000	0.58426	0.575000	0.29434	0.585000	0.79938	CTG		0.498	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
LRP2	4036	broad.mit.edu	37	2	170063557	170063557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:170063557G>A	ENST00000263816.3	-	39	6958	c.6673C>T	c.(6673-6675)Cga>Tga	p.R2225*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2225					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2225*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCACTGTTCGATTGGTACAG	0.468																																					p.R2225X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6673T	2						.						187.0	169.0	175.0					2																	170063557		2203	4300	6503	169771803	SO:0001587	stop_gained	4036	exon39				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6673C>T	2.37:g.170063557G>A	ENSP00000263816:p.Arg2225*	Somatic		Capture	Illumina HiSeq	Phase_I	169771803	NM_004525	O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	49	15.201297	0.99826	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.98	1.93	0.25924	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3565	0.87337	0.0:0.0:0.3046:0.6954	.	.	.	.	X	2225	.	ENSP00000263816:R2225X	R	-	1	2	LRP2	169771803	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.474000	0.35398	0.370000	0.24538	-0.284000	0.09977	CGA		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
FASTKD1	79675	broad.mit.edu	37	2	170411698	170411698	+	Nonsense_Mutation	SNP	C	C	A	rs12618227	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:170411698C>A	ENST00000453153.2	-	7	1496	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.E384*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	384			E -> Q (in dbSNP:rs12618227).		cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E384*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAAGTTAATTCTTGAGTTATC	0.299																																					p.E384X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1150T	2						.						73.0	78.0	76.0					2																	170411698		2201	4300	6501	170119944	SO:0001587	stop_gained	79675	exon7			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1150G>T	2.37:g.170411698C>A	ENSP00000400513:p.Glu384*	Somatic		Capture	Illumina HiSeq	Phase_I	170119944	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Nonsense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.815850	0.96982	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	.	.	.	4.84	3.04	0.35103	.	0.408805	0.27946	N	0.017214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.8948	4.3534	0.11167	0.1921:0.6197:0.0:0.1882	.	.	.	.	X	384	.	ENSP00000400513:E384X	E	-	1	0	FASTKD1	170119944	0.321000	0.24625	0.556000	0.28293	0.504000	0.33889	0.243000	0.18106	0.629000	0.30376	0.650000	0.86243	GAA		0.299	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
FASTKD1	79675	broad.mit.edu	37	2	170417152	170417152	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:170417152C>T	ENST00000453153.2	-	5	1062	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	FASTKD1_ENST00000453929.2_Missense_Mutation_p.R239Q	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	239					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R239Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TCTAACATTTCGAAGAAACTT	0.333																																					p.R239Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G716A	2						.						67.0	67.0	67.0					2																	170417152		2203	4300	6503	170125398	SO:0001583	missense	79675	exon5			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.716G>A	2.37:g.170417152C>T	ENSP00000400513:p.Arg239Gln	Somatic		Capture	Illumina HiSeq	Phase_I	170125398	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461652	0.12342	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000417376;ENST00000438035;ENST00000445210	T;T	0.18502	2.22;2.21	5.44	-0.389	0.12455	.	0.460281	0.24087	N	0.041677	T	0.12603	0.0306	L	0.52905	1.665	0.35574	D	0.805698	B;B;B	0.34313	0.32;0.448;0.32	B;B;B	0.23852	0.022;0.049;0.022	T	0.23190	-1.0195	10	0.28530	T	0.3	-7.4682	10.7104	0.45980	0.0:0.5228:0.0:0.4772	.	216;239;239	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	Q	239;239;67;216;239	ENSP00000400513:R239Q;ENSP00000403229:R239Q	ENSP00000408667:R67Q	R	-	2	0	FASTKD1	170125398	0.985000	0.35326	0.996000	0.52242	0.084000	0.17831	0.814000	0.27239	-0.008000	0.14320	-0.312000	0.09012	CGA		0.333	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
FASTKD1	79675	broad.mit.edu	37	2	170428445	170428445	+	Missense_Mutation	SNP	C	C	T	rs376071696		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:170428445C>T	ENST00000453153.2	-	2	441	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	FASTKD1_ENST00000453929.2_Missense_Mutation_p.R32Q	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	32					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R32Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACTGATGGGTCGAAATTGAAA	0.343																																					p.R32Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G95A	2						.						73.0	70.0	71.0					2																	170428445		2203	4300	6503	170136691	SO:0001583	missense	79675	exon2			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.95G>A	2.37:g.170428445C>T	ENSP00000400513:p.Arg32Gln	Somatic		Capture	Illumina HiSeq	Phase_I	170136691	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291846	0.40594	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.20200	2.09;2.09	5.07	4.19	0.49359	.	0.372834	0.27981	N	0.017078	T	0.21550	0.0519	M	0.64997	1.995	0.39070	D	0.960702	P;D;P	0.53885	0.938;0.963;0.883	B;B;B	0.38500	0.142;0.275;0.082	T	0.12319	-1.0552	10	0.38643	T	0.18	-26.2444	13.6022	0.62026	0.0:0.9246:0.0:0.0754	.	32;32;32	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	Q	32	ENSP00000400513:R32Q;ENSP00000403229:R32Q	ENSP00000396769:R32Q	R	-	2	0	FASTKD1	170136691	1.000000	0.71417	0.840000	0.33206	0.441000	0.31987	2.348000	0.44045	1.257000	0.44085	0.591000	0.81541	CGA		0.343	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
KLHL23	151230	broad.mit.edu	37	2	170592688	170592688	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:170592688C>A	ENST00000392647.2	+	2	1408	c.1164C>A	c.(1162-1164)ttC>ttA	p.F388L	KLHL23_ENST00000272797.4_Missense_Mutation_p.F388L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	388								p.F388L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						AGGCTGAGTTCTATGATCCTT	0.413																																					p.F388L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1164A	2						.						107.0	114.0	111.0					2																	170592688		2203	4300	6503	170300934	SO:0001583	missense	151230	exon4			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1164C>A	2.37:g.170592688C>A	ENSP00000376419:p.Phe388Leu	Somatic		Capture	Illumina HiSeq	Phase_I	170300934	NM_001199290	Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916323	0.33815	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.76839	-1.05;-1.05;-1.05	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.048413	0.85682	D	0.000000	T	0.67192	0.2867	L	0.31664	0.95	0.28885	N	0.894184	B	0.16396	0.017	B	0.25987	0.065	T	0.65018	-0.6270	9	0.11794	T	0.64	.	14.584	0.68310	0.0:0.928:0.0:0.072	.	388	Q8NBE8	KLH23_HUMAN	L	388;388;209	ENSP00000272797:F388L;ENSP00000376419:F388L;ENSP00000394732:F209L	ENSP00000272797:F388L	F	+	3	2	KLHL23	170300934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.181000	0.32017	2.567000	0.86603	0.650000	0.86243	TTC		0.413	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
GAD1	2571	broad.mit.edu	37	2	171702556	171702556	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:171702556C>A	ENST00000358196.3	+	10	1535	c.985C>A	c.(985-987)Ctt>Att	p.L329I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	329					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.L329I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGCAAAAATTCTTGAAGCCAA	0.348																																					p.L329I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C985A	2						.						63.0	67.0	66.0					2																	171702556		2203	4300	6503	171410802	SO:0001583	missense	2571	exon10				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.985C>A	2.37:g.171702556C>A	ENSP00000350928:p.Leu329Ile	Somatic		Capture	Illumina HiSeq	Phase_I	171410802	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960732	0.18583	.	.	ENSG00000128683	ENST00000358196	T	0.37915	1.17	5.91	4.12	0.48240	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.179257	0.44483	N	0.000454	T	0.21387	0.0515	N	0.16790	0.44	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.04565	-1.0942	10	0.26408	T	0.33	-7.902	9.4119	0.38496	0.1185:0.7552:0.0:0.1263	.	329	Q99259	DCE1_HUMAN	I	329	ENSP00000350928:L329I	ENSP00000350928:L329I	L	+	1	0	GAD1	171410802	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	0.872000	0.28037	0.842000	0.35045	-0.126000	0.14955	CTT		0.348	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
METTL8	79828	broad.mit.edu	37	2	172188330	172188330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:172188330G>A	ENST00000375258.4	-	6	919	c.704C>T	c.(703-705)gCt>gTt	p.A235V		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	235						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.A185V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GAGCTCCACAGCTCCAGAAGC	0.393																																					p.A235V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C704T	2						.						53.0	52.0	53.0					2																	172188330		2203	4300	6503	171896576	SO:0001583	missense	79828	exon6			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.704C>T	2.37:g.172188330G>A	ENSP00000364407:p.Ala235Val	Somatic		Capture	Illumina HiSeq	Phase_I	171896576	NM_024770	Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.479748	0.96307	.	.	ENSG00000123600	ENST00000375258	T	0.04809	3.55	5.71	5.71	0.89125	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54221	-0.8326	10	0.87932	D	0	-4.3309	19.8493	0.96733	0.0:0.0:1.0:0.0	.	190;235;235	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	V	235	ENSP00000364407:A235V	ENSP00000364407:A235V	A	-	2	0	METTL8	171896576	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.521000	0.81832	2.701000	0.92244	0.563000	0.77884	GCT		0.393	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	
ITGA6	3655	broad.mit.edu	37	2	173333961	173333961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:173333961G>A	ENST00000264106.6	+	4	699	c.496G>A	c.(496-498)Gat>Aat	p.D166N	ITGA6_ENST00000375221.2_Missense_Mutation_p.D166N|ITGA6_ENST00000409080.1_Missense_Mutation_p.D166N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D52N|ITGA6_ENST00000343713.4_Missense_Mutation_p.D166N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D166N			P23229	ITA6_HUMAN	integrin, alpha 6	166					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.D166N(1)|p.D166Y(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATTGAAGACGATATGGATGG	0.458																																					p.D166N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G496A	2						.						179.0	172.0	174.0					2																	173333961		2203	4300	6503	173042207	SO:0001583	missense	3655	exon4				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.496G>A	2.37:g.173333961G>A	ENSP00000264106:p.Asp166Asn	Somatic		Capture	Illumina HiSeq	Phase_I	173042207	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.423195	0.83559	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	6.17	6.17	0.99709	.	0.199493	0.52532	D	0.000078	T	0.47192	0.1432	M	0.66939	2.045	0.80722	D	1	B;B;B	0.25486	0.127;0.024;0.024	B;B;B	0.18561	0.022;0.013;0.01	T	0.34725	-0.9817	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	166;166;166	P23229-4;G5E9H1;P23229-2	.;.;.	N	52;52;166;166;166;166;166;166;166	ENSP00000413470:D52N;ENSP00000386614:D52N;ENSP00000264107:D166N;ENSP00000264106:D166N;ENSP00000364369:D166N;ENSP00000341078:D166N;ENSP00000386896:D166N;ENSP00000406694:D166N;ENSP00000394169:D166N	ENSP00000264106:D166N	D	+	1	0	ITGA6	173042207	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	6.695000	0.74593	2.941000	0.99782	0.655000	0.94253	GAT		0.458	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
RAPGEF4	11069	broad.mit.edu	37	2	173855585	173855585	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:173855585C>A	ENST00000397081.3	+	15	1565	c.1422C>A	c.(1420-1422)gtC>gtA	p.V474V	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Silent_p.V303V|RAPGEF4_ENST00000540783.1_Silent_p.V321V|RAPGEF4_ENST00000397087.3_Silent_p.V330V|RAPGEF4_ENST00000264111.6_Silent_p.V473V|RAPGEF4_ENST00000409036.1_Silent_p.V474V|RAPGEF4_ENST00000535187.1_Silent_p.V254V|RAPGEF4_ENST00000539331.1_Silent_p.V321V	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	474					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V474V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACCAAGATGTCTTGGTGCTGG	0.453																																					p.V474V												RAPGEF4,central_nervous_system,brain,Substitution - Missense,+2 	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1422A	2						.						121.0	120.0	120.0					2																	173855585		1981	4158	6139	173563831	SO:0001819	synonymous_variant	11069	exon15			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1422C>A	2.37:g.173855585C>A		Somatic		Capture	Illumina HiSeq	Phase_I	173563831	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	CCDS42775.1																																																																																				0.453	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
ZAK	51776	broad.mit.edu	37	2	174097113	174097113	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:174097113C>T	ENST00000375213.3	+	14	1207	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R377W|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		377	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.R377W(1)									TACAGGGAAGCGGCTGCTGCT	0.433																																					p.R377W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1129T	2						.						154.0	154.0	154.0					2																	174097113		1956	4164	6120	173805359	SO:0001583	missense	51776	exon14																														ENST00000375213.3:c.1129C>T	2.37:g.174097113C>T	ENSP00000364361:p.Arg377Trp	Somatic		Capture	Illumina HiSeq	Phase_I	173805359	NM_016653	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175355	0.78564	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.50277	0.75;0.75	5.8	4.9	0.64082	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.051262	0.64402	D	0.000001	T	0.66944	0.2841	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.70096	-0.4966	10	0.87932	D	0	.	13.952	0.64123	0.273:0.727:0.0:0.0	.	377	Q9NYL2	MLTK_HUMAN	W	377	ENSP00000387259:R377W;ENSP00000364361:R377W	ENSP00000364361:R377W	R	+	1	2	AC013461.1	173805359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.300000	0.43620	2.736000	0.93811	0.643000	0.83706	CGG		0.433	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
CHRNA1	1134	broad.mit.edu	37	2	175613344	175613344	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:175613344G>A	ENST00000261007.5	-	9	1347	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	CHRNA1_ENST00000409542.1_Silent_p.I320I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000348749.5_Silent_p.I402I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	427					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.I427I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGGTCTCTGCGATGTACTTGA	0.502											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I402I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1206T	2						.						125.0	112.0	117.0					2																	175613344		2203	4300	6503	175321590	SO:0001819	synonymous_variant	1134	exon8			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1281C>T	2.37:g.175613344G>A		Somatic	1924	Capture	Illumina HiSeq	Phase_I	175321590	NM_000079	B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																				0.502	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1		
TTC30B	150737	broad.mit.edu	37	2	178416388	178416388	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:178416388G>A	ENST00000408939.3	-	1	1354	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	368					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.C368C(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GAGCTGTCTGGCAAGTGATCA	0.473																																					p.C368C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1104T	2						.						117.0	124.0	121.0					2																	178416388		2203	4300	6503	178124634	SO:0001819	synonymous_variant	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1104C>T	2.37:g.178416388G>A		Somatic		Capture	Illumina HiSeq	Phase_I	178124634	NM_152517	Q63HQ1|Q96NE6	Silent	SNP	ENST00000408939.3	37	CCDS42784.1																																																																																				0.473	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
TTC30B	150737	broad.mit.edu	37	2	178416962	178416962	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:178416962A>C	ENST00000408939.3	-	1	780	c.530T>G	c.(529-531)tTt>tGt	p.F177C		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	177				Missing (in Ref. 1; BAB70953). {ECO:0000305}.	cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.F177C(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GGCGGCAAAAAACTTGGAGCA	0.552																																					p.F177C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T530G	2						.						123.0	136.0	132.0					2																	178416962		2203	4300	6503	178125208	SO:0001583	missense	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.530T>G	2.37:g.178416962A>C	ENSP00000386181:p.Phe177Cys	Somatic		Capture	Illumina HiSeq	Phase_I	178125208	NM_152517	Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217817	0.39201	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	D	0.88201	-2.35	4.51	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94577	0.7776	10	0.59425	D	0.04	.	14.2692	0.66140	1.0:0.0:0.0:0.0	.	177	Q8N4P2	TT30B_HUMAN	C	130;177	ENSP00000386181:F177C	ENSP00000386181:F177C	F	-	2	0	TTC30B	178125208	1.000000	0.71417	0.996000	0.52242	0.190000	0.23558	7.213000	0.77950	2.012000	0.59069	0.533000	0.62120	TTT		0.552	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
GEN1	348654	broad.mit.edu	37	2	17962592	17962592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:17962592G>T	ENST00000381254.2	+	14	2327	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Nonsense_Mutation_p.E705*	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	705					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E705*(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGTGTAAAAGAATCTTGTAT	0.338								Homologous recombination																													p.E705X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2113T	2						.						101.0	112.0	108.0					2																	17962592		2203	4300	6503	17826073	SO:0001587	stop_gained	348654	exon14			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2113G>T	2.37:g.17962592G>T	ENSP00000370653:p.Glu705*	Somatic		Capture	Illumina HiSeq	Phase_I	17826073	NM_001130009	Q17RS9|Q6ZN37	Nonsense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051865	0.75960	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	.	.	.	5.41	2.41	0.29592	.	0.461525	0.18472	N	0.140200	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-7.5156	7.7641	0.28970	0.1458:0.3712:0.483:0.0	.	.	.	.	X	705;705;342	.	ENSP00000318977:E705X	E	+	1	0	GEN1	17826073	0.896000	0.30565	0.013000	0.15412	0.014000	0.08584	1.615000	0.36922	0.763000	0.33175	0.655000	0.94253	GAA		0.338	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
TTC30A	92104	broad.mit.edu	37	2	178482701	178482701	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:178482701T>G	ENST00000355689.5	-	1	993	c.729A>C	c.(727-729)ttA>ttC	p.L243F	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	243					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.L243F(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GATGGAGAACTAAGGTGTTGC	0.507																																					p.L243F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A729C	2						.						102.0	102.0	102.0					2																	178482701		2203	4300	6503	178190947	SO:0001583	missense	92104	exon1			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.729A>C	2.37:g.178482701T>G	ENSP00000347915:p.Leu243Phe	Somatic		Capture	Illumina HiSeq	Phase_I	178190947	NM_152275	A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	T	2.421	-0.333197	0.05278	.	.	ENSG00000197557	ENST00000355689	T	0.18657	2.2	5.78	2.08	0.27032	Tetratricopeptide-like helical (1);	0.334420	0.32190	N	0.006451	T	0.13114	0.0318	L	0.52759	1.655	0.45415	D	0.998396	B	0.06786	0.001	B	0.08055	0.003	T	0.13202	-1.0518	10	0.09590	T	0.72	.	2.2675	0.04082	0.4154:0.2728:0.0:0.3118	.	243	Q86WT1	TT30A_HUMAN	F	243	ENSP00000347915:L243F	ENSP00000347915:L243F	L	-	3	2	TTC30A	178190947	1.000000	0.71417	0.775000	0.31657	0.915000	0.54546	1.078000	0.30754	0.451000	0.26802	0.449000	0.29647	TTA		0.507	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
PDE11A	50940	broad.mit.edu	37	2	178762794	178762794	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:178762794G>A	ENST00000286063.6	-	4	1610	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000449286.2_Silent_p.I73I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	431	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I431I(2)|p.I181I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGGTGATTCGATGTCCTCTA	0.348									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.I181I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C543T	2						.						116.0	112.0	114.0					2																	178762794		2203	4300	6503	178471040	SO:0001819	synonymous_variant	50940	exon5	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1293C>T	2.37:g.178762794G>A		Somatic		Capture	Illumina HiSeq	Phase_I	178471040	NM_001077197	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059928	0.19987	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.89	0.569	0.17340	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49808	-0.8900	4	.	.	.	.	9.715	0.40270	0.7158:0.0:0.2842:0.0	.	.	.	.	L	70	.	.	S	-	2	0	PDE11A	178471040	0.922000	0.31269	0.995000	0.50966	0.966000	0.64601	0.180000	0.16860	-0.128000	0.11641	-0.302000	0.09304	TCG		0.348	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
OSBPL6	114880	broad.mit.edu	37	2	179253814	179253814	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179253814T>C	ENST00000190611.4	+	21	2611	c.2235T>C	c.(2233-2235)caT>caC	p.H745H	OSBPL6_ENST00000409045.3_Silent_p.H714H|OSBPL6_ENST00000315022.2_Silent_p.H749H|OSBPL6_ENST00000409631.1_Silent_p.H709H|OSBPL6_ENST00000392505.2_Silent_p.H770H|OSBPL6_ENST00000359685.3_Silent_p.H709H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	745					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.H745H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGATAGAACATTATGGAGAAG	0.363																																					p.H745H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2235C	2						.						149.0	130.0	136.0					2																	179253814		2203	4300	6503	178962060	SO:0001819	synonymous_variant	114880	exon21			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2235T>C	2.37:g.179253814T>C		Somatic		Capture	Illumina HiSeq	Phase_I	178962060	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.363	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	broad.mit.edu	37	2	179399240	179399240	+	Silent	SNP	G	G	A	rs377354934		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179399240G>A	ENST00000591111.1	-	308	97403	c.97179C>T	c.(97177-97179)ttC>ttT	p.F32393F	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Silent_p.F25161F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_Silent_p.F25094F|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Silent_p.F24969F|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.F31466F|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Silent_p.F34034F|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F25161F(1)|p.F24969F(1)|p.F31464F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCTCATCGAAAGTATATT	0.413																																					p.S24969L												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C74906T	2						.	G	,,,	1,3845		0,1,1922	122.0	120.0	121.0		74907,94398,75282,75483	-0.2	1.0	2		121	0,8280		0,0,4140	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6062	AA,AG,GG		0.0,0.026,0.0082	,,,	24969/26927,31466/33424,25094/27052,25161/27119	179399240	1,12125	1923	4140	6063	179107486	SO:0001819	synonymous_variant	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97179C>T	2.37:g.179399240G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179107486	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179404300	179404300	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179404300T>C	ENST00000591111.1	-	302	93793	c.93569A>G	c.(93568-93570)tAc>tGc	p.Y31190C	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y23958C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y23891C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y23766C|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y30263C|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y32831C|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31190	Fibronectin type-III 127. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y23766C(1)|p.Y23958C(1)|p.Y30261C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCGAGGATGTAGCCTAAGAT	0.512																																					p.T23766A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A71296G	2						.						171.0	162.0	165.0					2																	179404300		2063	4204	6267	179112546	SO:0001583	missense	7273	exon180			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93569A>G	2.37:g.179404300T>C	ENSP00000465570:p.Tyr31190Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179112546	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	15.79	2.937258	0.52972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.79	5.79	0.91817	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92612	0.7653	H	0.99425	4.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95770	0.8808	9	0.87932	D	0	.	16.1376	0.81497	0.0:0.0:0.0:1.0	.	23766;23891;23958;31190	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30263;23766;23958;23891;23763	ENSP00000343764:Y30263C;ENSP00000434586:Y23766C;ENSP00000340554:Y23958C;ENSP00000352154:Y23891C	ENSP00000340554:Y23958C	Y	-	2	0	TTN	179112546	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	8.040000	0.89188	2.212000	0.71576	0.533000	0.62120	TAC		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179418830	179418830	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179418830G>T	ENST00000591111.1	-	283	84309	c.84085C>A	c.(84085-84087)Ctt>Att	p.L28029I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20797I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20730I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20605I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27102I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L29670I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28029	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L20605I(1)|p.L27100I(1)|p.L20797I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTTTTTCAAGGAAATAGCCA	0.418																																					p.S20604S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C61812A	2						.						197.0	192.0	193.0					2																	179418830		1907	4137	6044	179127076	SO:0001583	missense	7273	exon161			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84085C>A	2.37:g.179418830G>T	ENSP00000465570:p.Leu28029Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179127076	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	18.79	3.699402	0.68501	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54775	0.1879	N	0.12182	0.205	0.58432	D	0.999993	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.63033	-0.6727	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20605;20730;20797;28029	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	27102;20605;20797;20730;20602	ENSP00000343764:L27102I;ENSP00000434586:L20605I;ENSP00000340554:L20797I;ENSP00000352154:L20730I	ENSP00000340554:L20797I	L	-	1	0	TTN	179127076	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.647000	0.67923	2.793000	0.96121	0.655000	0.94253	CTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179427828	179427828	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179427828G>A	ENST00000591111.1	-	276	78332	c.78108C>T	c.(78106-78108)ctC>ctT	p.L26036L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.L18804L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L18737L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.L18612L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.L25109L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.L27677L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26036	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L18804L(1)|p.L18612L(1)|p.L25107L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCAGCATCGAGTTCTATTT	0.468																																					p.S18612L												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C55835T	2						.						178.0	175.0	176.0					2																	179427828		1956	4149	6105	179136074	SO:0001819	synonymous_variant	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78108C>T	2.37:g.179427828G>A		Somatic		Capture	Illumina HiSeq	Phase_I	179136074	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179442055	179442055	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179442055A>G	ENST00000591111.1	-	274	64308	c.64084T>C	c.(64084-64086)Tcc>Ccc	p.S21362P	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14130P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14063P|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13938P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20435P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S23003P|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21362	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S13938P(1)|p.S20433P(1)|p.S14130P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAGCATGGAAGATGTTGGG	0.428																																					p.L13937L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T41811C	2						.						128.0	114.0	119.0					2																	179442055		1901	4129	6030	179150301	SO:0001583	missense	7273	exon152			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64084T>C	2.37:g.179442055A>G	ENSP00000465570:p.Ser21362Pro	Somatic		Capture	Illumina HiSeq	Phase_I	179150301	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.68	2.308825	0.40895	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.62	5.62	0.85841	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67382	0.2887	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.72283	-0.4339	9	0.87932	D	0	.	16.1203	0.81346	1.0:0.0:0.0:0.0	.	13938;14063;14130;21362	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	20435;13938;14130;14063;13936	ENSP00000343764:S20435P;ENSP00000434586:S13938P;ENSP00000340554:S14130P;ENSP00000352154:S14063P	ENSP00000340554:S14130P	S	-	1	0	TTN	179150301	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.281000	0.95811	2.274000	0.75844	0.533000	0.62120	TCC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179448543	179448543	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179448543A>G	ENST00000591111.1	-	262	60667	c.60443T>C	c.(60442-60444)aTt>aCt	p.I20148T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I12916T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I12849T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I12724T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I19221T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I21789T|TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20148	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I12724T(1)|p.I19219T(1)|p.I12916T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCCAATAATTTTACTGCC	0.448																																					p.L12724L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T38170C	2						.						57.0	56.0	56.0					2																	179448543		1900	4116	6016	179156789	SO:0001583	missense	7273	exon140			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60443T>C	2.37:g.179448543A>G	ENSP00000465570:p.Ile20148Thr	Somatic		Capture	Illumina HiSeq	Phase_I	179156789	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	16.38	3.106942	0.56291	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74619	0.3740	M	0.93678	3.445	0.58432	D	0.999998	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	B;B;B;B	0.41374	0.355;0.355;0.355;0.272	T	0.82067	-0.0641	9	0.87932	D	0	.	16.7021	0.85357	1.0:0.0:0.0:0.0	.	12724;12849;12916;20148	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	19221;12724;12916;12849;12722	ENSP00000343764:I19221T;ENSP00000434586:I12724T;ENSP00000340554:I12916T;ENSP00000352154:I12849T	ENSP00000340554:I12916T	I	-	2	0	TTN	179156789	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.339000	0.96797	2.343000	0.79666	0.533000	0.62120	ATT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179451388	179451388	+	Missense_Mutation	SNP	G	G	A	rs373478378		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179451388G>A	ENST00000591111.1	-	258	59541	c.59317C>T	c.(59317-59319)Cgc>Tgc	p.R19773C	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12541C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12474C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18846C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21414C|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19773	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18844C(1)|p.R12541C(1)|p.R12349C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGTCCAGCGATCTGCAGGC	0.473																																					p.I12348I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C37044T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3934		0,0,1967	161.0	157.0	158.0		37045,56536,37420,37621	6.1	1.0	2		158	1,8353		0,1,4176	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	0,1,6143	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	12349/26927,18846/33424,12474/27052,12541/27119	179451388	1,12287	1967	4177	6144	179159634	SO:0001583	missense	7273	exon136			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59317C>T	2.37:g.179451388G>A	ENSP00000465570:p.Arg19773Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179159634	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	18.34	3.601525	0.66445	0.0	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61502	0.2352	L	0.43923	1.385	0.44862	D	0.997876	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.57846	0.828;0.828;0.828;0.828	T	0.62450	-0.6852	9	0.87932	D	0	.	15.3709	0.74564	0.0:0.0:0.8606:0.1393	.	12349;12474;12541;19773	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	18846;12349;12541;12474;12347	ENSP00000343764:R18846C;ENSP00000434586:R12349C;ENSP00000340554:R12541C;ENSP00000352154:R12474C	ENSP00000340554:R12541C	R	-	1	0	TTN	179159634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.727000	0.61993	2.884000	0.98904	0.655000	0.94253	CGC		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179453601	179453601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179453601C>A	ENST00000591111.1	-	254	58152	c.57928G>T	c.(57928-57930)Gaa>Taa	p.E19310*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E12078*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E12011*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11886*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E18383*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E20951*|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19310	Fibronectin type-III 39. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E11886*(1)|p.E18381*(1)|p.E12078*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTACTTTCTGTTGGAGGC	0.423																																					p.Q11885H												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G35655T	2						.						52.0	50.0	51.0					2																	179453601		1861	4107	5968	179161847	SO:0001587	stop_gained	7273	exon132			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57928G>T	2.37:g.179453601C>A	ENSP00000465570:p.Glu19310*	Somatic		Capture	Illumina HiSeq	Phase_I	179161847	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	61	57.030537	0.99989	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	18383;11886;12078;12011;11884	.	ENSP00000340554:E12078X	E	-	1	0	TTN	179161847	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.996000	0.70639	2.937000	0.99478	0.650000	0.86243	GAA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179469447	179469447	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179469447C>A	ENST00000591111.1	-	231	49670	c.49446G>T	c.(49444-49446)gaG>gaT	p.E16482D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9250D|TTN_ENST00000359218.5_Missense_Mutation_p.E9183D|TTN_ENST00000460472.2_Missense_Mutation_p.E9058D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15555D|TTN_ENST00000589042.1_Missense_Mutation_p.E18123D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16482	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E9250D(1)|p.E9058D(1)|p.E15555D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATCTTTTCTCTACAGCAG	0.353																																					p.E9058D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G27174T	2						.						116.0	110.0	112.0					2																	179469447		1859	4098	5957	179177692	SO:0001583	missense	7273	exon109			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49446G>T	2.37:g.179469447C>A	ENSP00000465570:p.Glu16482Asp	Somatic		Capture	Illumina HiSeq	Phase_I	179177692	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	9.331	1.060424	0.19987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.55	0.423	0.16463	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28632	0.0709	N	0.02985	-0.445	0.29665	N	0.842951	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.10450	0.002;0.002;0.002;0.005	T	0.20571	-1.0271	9	0.87932	D	0	.	4.164	0.10298	0.0943:0.3652:0.3493:0.1912	.	9058;9183;9250;16482	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15555;9058;9250;9183;9058	ENSP00000343764:E15555D;ENSP00000434586:E9058D;ENSP00000340554:E9250D;ENSP00000352154:E9183D	ENSP00000340554:E9250D	E	-	3	2	TTN	179177692	0.075000	0.21258	0.996000	0.52242	0.992000	0.81027	-0.511000	0.06321	0.080000	0.16959	0.563000	0.77884	GAG		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179469574	179469574	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179469574G>T	ENST00000591111.1	-	231	49543	c.49319C>A	c.(49318-49320)tCt>tAt	p.S16440Y	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9208Y|TTN_ENST00000359218.5_Missense_Mutation_p.S9141Y|TTN_ENST00000460472.2_Missense_Mutation_p.S9016Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15513Y|TTN_ENST00000589042.1_Missense_Mutation_p.S18081Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16440	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S15513Y(1)|p.S9016Y(1)|p.S9208Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTAGCAAGATTCAGCTTT	0.423																																					p.S9016Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C27047A	2						.						131.0	119.0	123.0					2																	179469574		1903	4137	6040	179177819	SO:0001583	missense	7273	exon109			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49319C>A	2.37:g.179469574G>T	ENSP00000465570:p.Ser16440Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179177819	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.55	2.569124	0.45798	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81749	0.4888	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.82772	-0.0292	9	0.87932	D	0	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	9016;9141;9208;16440	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	15513;9016;9208;9141;9016	ENSP00000343764:S15513Y;ENSP00000434586:S9016Y;ENSP00000340554:S9208Y;ENSP00000352154:S9141Y	ENSP00000340554:S9208Y	S	-	2	0	TTN	179177819	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.768000	0.98965	2.873000	0.98535	0.563000	0.77884	TCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179474658	179474658	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179474658C>A	ENST00000591111.1	-	222	46793	c.46569G>T	c.(46567-46569)atG>atT	p.M15523I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M8291I|TTN_ENST00000359218.5_Missense_Mutation_p.M8224I|TTN_ENST00000460472.2_Missense_Mutation_p.M8099I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14596I|TTN_ENST00000589042.1_Missense_Mutation_p.M17164I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15523	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.M8291I(1)|p.M14596I(1)|p.M8099I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTAATAGTCATTGCCTCCG	0.428																																					p.M8099I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G24297T	2						.						194.0	182.0	186.0					2																	179474658		1893	4120	6013	179182903	SO:0001583	missense	7273	exon100			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46569G>T	2.37:g.179474658C>A	ENSP00000465570:p.Met15523Ile	Somatic		Capture	Illumina HiSeq	Phase_I	179182903	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.58	1.680812	0.29872	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21590	0.0520	N	0.00633	-1.31	0.33996	D	0.649767	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.18023	-1.0350	9	0.87932	D	0	.	7.4577	0.27276	0.0:0.8027:0.0:0.1973	.	8099;8224;8291;15523	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14596;8099;8291;8224;8099	ENSP00000343764:M14596I;ENSP00000434586:M8099I;ENSP00000340554:M8291I;ENSP00000352154:M8224I	ENSP00000340554:M8291I	M	-	3	0	TTN	179182903	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.589000	0.36644	2.673000	0.90976	0.655000	0.94253	ATG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179474997	179474997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179474997G>A	ENST00000591111.1	-	221	46557	c.46333C>T	c.(46333-46335)Cgc>Tgc	p.R15445C	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8213C|TTN_ENST00000359218.5_Missense_Mutation_p.R8146C|TTN_ENST00000460472.2_Missense_Mutation_p.R8021C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14518C|TTN_ENST00000589042.1_Missense_Mutation_p.R17086C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15445	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R8213C(1)|p.R14518C(1)|p.R8021C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTCTGCGCTCCAGGACA	0.413																																					p.R8021C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C24061T	2						.						179.0	174.0	175.0					2																	179474997		1901	4124	6025	179183242	SO:0001583	missense	7273	exon99			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46333C>T	2.37:g.179474997G>A	ENSP00000465570:p.Arg15445Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179183242	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922019	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72236	0.3435	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73754	-0.3883	9	0.87932	D	0	.	19.6974	0.96031	0.0:0.0:1.0:0.0	.	8021;8146;8213;15445	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	14518;8021;8213;8146;8021	ENSP00000343764:R14518C;ENSP00000434586:R8021C;ENSP00000340554:R8213C;ENSP00000352154:R8146C	ENSP00000340554:R8213C	R	-	1	0	TTN	179183242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.650000	0.89964	0.655000	0.94253	CGC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179477040	179477040	+	Missense_Mutation	SNP	C	C	T	rs148018042	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179477040C>T	ENST00000591111.1	-	216	45513	c.45289G>A	c.(45289-45291)Gaa>Aaa	p.E15097K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7865K|TTN_ENST00000359218.5_Missense_Mutation_p.E7798K|TTN_ENST00000460472.2_Missense_Mutation_p.E7673K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14170K|TTN_ENST00000589042.1_Missense_Mutation_p.E16738K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15097	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E7865K(1)|p.E7673K(1)|p.E14170K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCAATTTCGGTGTAGTCG	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		21124	0.0		0.001	False		,,,				2504	0.001				p.E7673K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G23017A	2						.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,3877		0,1,1938	77.0	77.0	77.0		23017,42508,23392,23593	5.7	1.0	2	dbSNP_134	77	0,8290		0,0,4145	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,56,56,56	0,1,6083	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	7673/26927,14170/33424,7798/27052,7865/27119	179477040	1,12167	1939	4145	6084	179185285	SO:0001583	missense	7273	exon94			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45289G>A	2.37:g.179477040C>T	ENSP00000465570:p.Glu15097Lys	Somatic		Capture	Illumina HiSeq	Phase_I	179185285	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.87	2.959834	0.53400	2.58E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.71	5.71	0.89125	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73628	0.3611	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.75243	-0.3386	9	0.87932	D	0	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	7673;7798;7865;15097	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14170;7673;7865;7798;7673	ENSP00000343764:E14170K;ENSP00000434586:E7673K;ENSP00000340554:E7865K;ENSP00000352154:E7798K	ENSP00000340554:E7865K	E	-	1	0	TTN	179185285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.697000	0.92050	0.563000	0.77884	GAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179498562	179498562	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179498562C>T	ENST00000591111.1	-	181	37965	c.37741G>A	c.(37741-37743)Gca>Aca	p.A12581T	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A5349T|TTN_ENST00000359218.5_Missense_Mutation_p.A5282T|TTN_ENST00000460472.2_Missense_Mutation_p.A5157T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A11654T|TTN_ENST00000589042.1_Missense_Mutation_p.A14222T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12581	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A5349T(1)|p.A11654T(1)|p.A5157T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCTGTGCTGTGGAGCTC	0.398																																					p.A5157T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G15469A	2						.						199.0	189.0	192.0					2																	179498562		1887	4107	5994	179206807	SO:0001583	missense	7273	exon59			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37741G>A	2.37:g.179498562C>T	ENSP00000465570:p.Ala12581Thr	Somatic		Capture	Illumina HiSeq	Phase_I	179206807	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.09	2.730507	0.48939	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76062	0.3935	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79313	-0.1855	9	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	5157;5282;5349;12581	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	11654;5157;5349;5282;5157	ENSP00000343764:A11654T;ENSP00000434586:A5157T;ENSP00000340554:A5349T;ENSP00000352154:A5282T	ENSP00000340554:A5349T	A	-	1	0	TTN	179206807	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	7.770000	0.85390	2.814000	0.96858	0.563000	0.77884	GCA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179575912	179575912	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179575912A>C	ENST00000591111.1	-	95	27324	c.27100T>G	c.(27100-27102)Ttt>Gtt	p.F9034V	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F8107V|TTN_ENST00000589042.1_Missense_Mutation_p.F9351V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13172	Ig-like 73.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F8107V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCTAAAAATGATGTTTGT	0.423																																					p.F8107V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T24319G	2						.						200.0	196.0	197.0					2																	179575912		1864	4109	5973	179284157	SO:0001583	missense	7273	exon94			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27100T>G	2.37:g.179575912A>C	ENSP00000465570:p.Phe9034Val	Somatic		Capture	Illumina HiSeq	Phase_I	179284157	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	14.04	2.416845	0.42918	.	.	ENSG00000155657	ENST00000342992	T	0.65178	-0.14	5.76	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60077	0.2241	M	0.64404	1.975	0.80722	D	1	P	0.36683	0.565	B	0.37015	0.239	T	0.63440	-0.6637	9	0.87932	D	0	.	11.934	0.52864	0.932:0.0:0.068:0.0	.	9034	Q8WZ42	TITIN_HUMAN	V	8107	ENSP00000343764:F8107V	ENSP00000343764:F8107V	F	-	1	0	TTN	179284157	0.990000	0.36364	1.000000	0.80357	0.816000	0.46133	3.856000	0.55964	1.116000	0.41820	0.533000	0.62120	TTT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179577622	179577622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179577622C>A	ENST00000591111.1	-	92	26403	c.26179G>T	c.(26179-26181)Gga>Tga	p.G8727*	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G7800*|TTN_ENST00000589042.1_Nonsense_Mutation_p.G9044*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12884	Ig-like 70.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7800*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGTGTTCCTTTTACGATA	0.418																																					p.G7800X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G23398T	2						.						57.0	52.0	53.0					2																	179577622		1920	4120	6040	179285867	SO:0001587	stop_gained	7273	exon91			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26179G>T	2.37:g.179577622C>A	ENSP00000465570:p.Gly8727*	Somatic		Capture	Illumina HiSeq	Phase_I	179285867	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	59	38.513033	0.99984	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7139	0.96107	0.0:1.0:0.0:0.0	.	.	.	.	X	7800	.	ENSP00000343764:G7800X	G	-	1	0	TTN	179285867	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.556000	0.82233	2.722000	0.93159	0.655000	0.94253	GGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179579743	179579743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179579743C>T	ENST00000591111.1	-	88	25443	c.25219G>A	c.(25219-25221)Gac>Aac	p.D8407N	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D7480N|TTN_ENST00000589042.1_Missense_Mutation_p.D8724N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12579	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D7480N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCAAGTGTCGCTTCCCACA	0.458																																					p.D7480N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G22438A	2						.						227.0	222.0	223.0					2																	179579743		2039	4199	6238	179287988	SO:0001583	missense	7273	exon87			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25219G>A	2.37:g.179579743C>T	ENSP00000465570:p.Asp8407Asn	Somatic		Capture	Illumina HiSeq	Phase_I	179287988	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.74	2.327363	0.41197	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	5.91	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68016	0.2955	M	0.75615	2.305	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.67814	-0.5573	9	0.87932	D	0	.	15.0713	0.72040	0.0:0.9322:0.0:0.0678	.	8407	Q8WZ42	TITIN_HUMAN	N	7480	ENSP00000343764:D7480N	ENSP00000343764:D7480N	D	-	1	0	TTN	179287988	1.000000	0.71417	0.921000	0.36526	0.108000	0.19459	4.085000	0.57657	1.521000	0.48983	0.655000	0.94253	GAC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179580448	179580448	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179580448C>T	ENST00000591111.1	-	87	24966	c.24742G>A	c.(24742-24744)Gaa>Aaa	p.E8248K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7321K|TTN_ENST00000589042.1_Missense_Mutation_p.E8565K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12428	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E7321K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTGAATTCATCCTGTTTC	0.398																																					p.E7321K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G21961A	2						.						45.0	43.0	44.0					2																	179580448		1845	4095	5940	179288693	SO:0001583	missense	7273	exon86			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24742G>A	2.37:g.179580448C>T	ENSP00000465570:p.Glu8248Lys	Somatic		Capture	Illumina HiSeq	Phase_I	179288693	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.65	3.181243	0.57800	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40979	0.1139	L	0.29908	0.895	0.80722	D	1	B	0.27853	0.191	B	0.23716	0.048	T	0.35943	-0.9768	9	0.87932	D	0	.	19.3896	0.94574	0.0:1.0:0.0:0.0	.	8248	Q8WZ42	TITIN_HUMAN	K	7321	ENSP00000343764:E7321K	ENSP00000343764:E7321K	E	-	1	0	TTN	179288693	1.000000	0.71417	0.971000	0.41717	0.852000	0.48524	7.776000	0.85560	2.637000	0.89404	0.655000	0.94253	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179592442	179592442	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179592442G>T	ENST00000591111.1	-	66	19136	c.18912C>A	c.(18910-18912)ttC>ttA	p.F6304L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F5377L|TTN_ENST00000589042.1_Missense_Mutation_p.F6621L|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13080	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F5377L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGCCAATGAAACATTTAG	0.388																																					p.F5377L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16131A	2						.						221.0	223.0	222.0					2																	179592442		1939	4137	6076	179300687	SO:0001583	missense	7273	exon65			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18912C>A	2.37:g.179592442G>T	ENSP00000465570:p.Phe6304Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179300687	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.838	1.190326	0.21954	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.99	2.94	0.34122	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49864	0.1582	L	0.42487	1.325	0.80722	D	1	B	0.18166	0.026	B	0.18561	0.022	T	0.45249	-0.9274	9	0.87932	D	0	.	5.3482	0.16020	0.3233:0.0:0.5298:0.1469	.	6304	Q8WZ42	TITIN_HUMAN	L	5377	ENSP00000343764:F5377L	ENSP00000343764:F5377L	F	-	3	2	TTN	179300687	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.455000	0.35190	0.375000	0.24679	0.655000	0.94253	TTC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179605277	179605277	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179605277G>T	ENST00000591111.1	-	46	11956	c.11732C>A	c.(11731-11733)tCt>tAt	p.S3911Y	TTN_ENST00000342175.6_Missense_Mutation_p.S4057Y|TTN_ENST00000359218.5_Missense_Mutation_p.S3990Y|TTN_ENST00000460472.2_Missense_Mutation_p.S3865Y|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S4228Y|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S4057Y(1)|p.S3865Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGCCACAGAGGTTAGATA	0.408																																					p.S3865Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11594A	2						.						136.0	123.0	127.0					2																	179605277		1878	4117	5995	179313522	SO:0001583	missense	7273	exon45			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11732C>A	2.37:g.179605277G>T	ENSP00000465570:p.Ser3911Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179313522	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043213	0.07452	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61510	0.17;0.11;0.1	5.51	3.55	0.40652	.	.	.	.	.	T	0.41488	0.1161	L	0.27053	0.805	0.09310	N	0.999991	B;B;B	0.26400	0.148;0.148;0.148	B;B;B	0.21151	0.033;0.033;0.033	T	0.35699	-0.9778	9	0.87932	D	0	.	6.5102	0.22218	0.0766:0.1101:0.6581:0.1552	.	3865;3990;4057	D3DPF9;E7EQE6;E7ET18	.;.;.	Y	3865;4057;3990;3865	ENSP00000434586:S3865Y;ENSP00000340554:S4057Y;ENSP00000352154:S3990Y	ENSP00000340554:S4057Y	S	-	2	0	TTN	179313522	0.076000	0.21285	0.592000	0.28758	0.339000	0.28857	0.046000	0.14035	1.343000	0.45638	0.655000	0.94253	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179605918	179605918	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179605918C>A	ENST00000591111.1	-	46	11315	c.11091G>T	c.(11089-11091)gaG>gaT	p.E3697D	TTN_ENST00000342175.6_Missense_Mutation_p.E3843D|TTN_ENST00000359218.5_Missense_Mutation_p.E3776D|TTN_ENST00000460472.2_Missense_Mutation_p.E3651D|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E4014D|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13999	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3651D(1)|p.E3843D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAACATATTCTCTGCTTTAC	0.468																																					p.E3651D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10953T	2						.						72.0	74.0	74.0					2																	179605918		1923	4139	6062	179314163	SO:0001583	missense	7273	exon45			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11091G>T	2.37:g.179605918C>A	ENSP00000465570:p.Glu3697Asp	Somatic		Capture	Illumina HiSeq	Phase_I	179314163	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	7.877	0.729382	0.15507	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.68479	-0.33;-0.33;-0.33	5.87	3.71	0.42584	.	.	.	.	.	T	0.59018	0.2163	L	0.60845	1.875	0.23168	N	0.998184	B;B;B	0.23185	0.024;0.024;0.081	B;B;B	0.18871	0.023;0.023;0.023	T	0.55964	-0.8057	9	0.87932	D	0	.	5.2965	0.15754	0.1537:0.6113:0.0:0.2349	.	3651;3776;3843	D3DPF9;E7EQE6;E7ET18	.;.;.	D	3651;3843;3776;3651	ENSP00000434586:E3651D;ENSP00000340554:E3843D;ENSP00000352154:E3776D	ENSP00000340554:E3843D	E	-	3	2	TTN	179314163	0.993000	0.37304	0.996000	0.52242	0.120000	0.20174	1.489000	0.35562	1.616000	0.50265	0.655000	0.94253	GAG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179611489	179611489	+	Intron	SNP	C	C	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179611489C>G	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G5213A			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G5213A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTCACACCAGGAACTGG	0.368																																					p.G5213A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15638C	2						.						93.0	91.0	91.0					2																	179611489		2203	4299	6502	179319734	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4841G>C	2.37:g.179611489C>G		Somatic		Capture	Illumina HiSeq	Phase_I	179319734	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	7.932	0.740841	0.15642	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.65916	-0.18	5.95	5.08	0.68730	.	.	.	.	.	T	0.50514	0.1620	N	0.12961	0.28	0.80722	D	1	B	0.31290	0.318	P	0.45167	0.472	T	0.44787	-0.9305	9	0.12103	T	0.63	.	9.2348	0.37459	0.0:0.7863:0.0:0.2137	.	5213	Q8WZ42-6	.	A	5213;494	ENSP00000354117:G5213A	ENSP00000304714:G494A	G	-	2	0	TTN	179319734	0.824000	0.29247	0.996000	0.52242	0.909000	0.53808	2.614000	0.46359	1.530000	0.49136	0.655000	0.94253	GGT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179611665	179611665	+	Intron	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179611665C>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E5154D			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E5154D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAACCCCTCTCTTCTGTAG	0.413																																					p.E5154D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15462T	2						.						134.0	131.0	132.0					2																	179611665		2203	4299	6502	179319910	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5017G>T	2.37:g.179611665C>A		Somatic		Capture	Illumina HiSeq	Phase_I	179319910	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.38	1.620478	0.28801	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.63096	-0.02	5.95	-1.14	0.09741	.	.	.	.	.	T	0.37972	0.1023	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.05886	-1.0858	9	0.29301	T	0.29	.	5.7939	0.18375	0.0:0.19:0.4833:0.3267	.	5154	Q8WZ42-6	.	D	5154;435	ENSP00000354117:E5154D	ENSP00000304714:E435D	E	-	3	2	TTN	179319910	0.983000	0.35010	0.158000	0.22627	0.171000	0.22731	0.067000	0.14510	-0.093000	0.12396	-0.211000	0.12701	GAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179614199	179614199	+	Intron	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179614199G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q4310K			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q4310K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGGCTTTGAAAATAGTCC	0.408																																					p.Q4310K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12928A	2						.						65.0	68.0	67.0					2																	179614199		2203	4298	6501	179322444	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3651C>A	2.37:g.179614199G>T		Somatic		Capture	Illumina HiSeq	Phase_I	179322444	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.93	2.085156	0.36758	.	.	ENSG00000155657	ENST00000360870	T	0.57107	0.42	6.17	5.29	0.74685	.	.	.	.	.	T	0.34193	0.0889	N	0.24115	0.695	0.80722	D	1	P	0.38827	0.649	B	0.33454	0.164	T	0.25882	-1.0119	9	0.06099	T	0.92	.	16.4974	0.84249	0.0:0.1314:0.8686:0.0	.	4310	Q8WZ42-6	.	K	4310	ENSP00000354117:Q4310K	ENSP00000354117:Q4310K	Q	-	1	0	TTN	179322444	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	4.038000	0.57318	1.603000	0.50134	0.655000	0.94253	CAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179615267	179615267	+	Intron	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179615267C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E3954*			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3954*(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAACTTCTTGAGATTCA	0.368																																					p.E3954X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G11860T	2						.						37.0	38.0	37.0					2																	179615267		2203	4296	6499	179323512	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2583G>T	2.37:g.179615267C>A		Somatic		Capture	Illumina HiSeq	Phase_I	179323512	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	53	21.328997	0.99939	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.861	0.96785	0.0:1.0:0.0:0.0	.	.	.	.	X	3954	.	ENSP00000354117:E3954X	E	-	1	0	TTN	179323512	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	2.769000	0.47654	2.767000	0.95098	0.655000	0.94253	GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179616413	179616413	+	Intron	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179616413C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3572Y			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D3572Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCTGTCTTGGACCCTT	0.408																																					p.D3572Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10714T	2						.						76.0	81.0	79.0					2																	179616413		2202	4299	6501	179324658	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1437G>T	2.37:g.179616413C>A		Somatic		Capture	Illumina HiSeq	Phase_I	179324658	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	7.743	0.701686	0.15172	.	.	ENSG00000155657	ENST00000360870	T	0.40225	1.04	5.76	-1.24	0.09435	.	.	.	.	.	T	0.24661	0.0598	L	0.29908	0.895	0.47511	D	0.999441	B	0.06786	0.001	B	0.08055	0.003	T	0.03852	-1.0998	9	0.37606	T	0.19	.	4.6765	0.12715	0.3563:0.4246:0.0:0.219	.	3572	Q8WZ42-6	.	Y	3572	ENSP00000354117:D3572Y	ENSP00000354117:D3572Y	D	-	1	0	TTN	179324658	0.853000	0.29707	0.008000	0.14137	0.126000	0.20510	0.929000	0.28844	-0.582000	0.05929	-0.345000	0.07892	GAC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179636047	179636047	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179636047A>G	ENST00000591111.1	-	34	8231	c.8007T>C	c.(8005-8007)tcT>tcC	p.S2669S	TTN_ENST00000342175.6_Silent_p.S2623S|TTN_ENST00000359218.5_Silent_p.S2623S|TTN_ENST00000460472.2_Silent_p.S2623S|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S2669S|TTN_ENST00000589042.1_Silent_p.S2669S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.S2669S			Q8WZ42	TITIN_HUMAN	titin	12994	Ig-like 15.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S2623S(3)|p.S2669S(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGGCCATCAGACTCACTTC	0.448																																					p.S2669S												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.T8007C	2						.						213.0	170.0	184.0					2																	179636047		2203	4300	6503	179344292	SO:0001819	synonymous_variant	7273	exon34			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8007T>C	2.37:g.179636047A>G		Somatic		Capture	Illumina HiSeq	Phase_I	179344292	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179702159	179702159	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179702159C>T	ENST00000420890.2	-	23	3904	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E688K|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1263								p.E688K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAACAGATTCCTGGGCATCC	0.522																																					p.E1263K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3787A	2						.						69.0	71.0	71.0					2																	179702159		2203	4300	6503	179410404	SO:0001583	missense	285025	exon23			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3787G>A	2.37:g.179702159C>T	ENSP00000395995:p.Glu1263Lys	Somatic		Capture	Illumina HiSeq	Phase_I	179410404	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	14.31	2.497008	0.44352	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.51325	0.71;1.31;1.31	5.71	4.65	0.58169	.	0.224070	0.31872	N	0.006922	T	0.36580	0.0972	L	0.42245	1.32	0.09310	N	1	B;B	0.27351	0.176;0.176	B;B	0.24541	0.054;0.054	T	0.20405	-1.0276	10	0.41790	T	0.15	-5.3489	8.5882	0.33670	0.136:0.7259:0.0:0.1382	.	688;688	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	K	1263;707;688	ENSP00000395995:E1263K;ENSP00000344627:E707K;ENSP00000295723:E688K	ENSP00000295723:E688K	E	-	1	0	CCDC141	179410404	0.803000	0.28956	0.993000	0.49108	0.937000	0.57800	1.404000	0.34623	2.682000	0.91365	0.650000	0.86243	GAA		0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179721095	179721095	+	Missense_Mutation	SNP	C	C	A	rs376518328		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:179721095C>A	ENST00000420890.2	-	18	2871	c.2754G>T	c.(2752-2754)aaG>aaT	p.K918N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K343N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	918								p.K343N(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TATTGAATTTCTTTTTGATAT	0.284																																					p.K918N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2754T	2						.	C	ASN/LYS	1,4397	2.1+/-5.4	0,1,2198	54.0	55.0	55.0		2754	4.7	1.0	2		55	0,8594		0,0,4297	no	missense	CCDC141	NM_173648.3	94	0,1,6495	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	918/1531	179721095	1,12991	2199	4297	6496	179429340	SO:0001583	missense	285025	exon18			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2754G>T	2.37:g.179721095C>A	ENSP00000395995:p.Lys918Asn	Somatic		Capture	Illumina HiSeq	Phase_I	179429340	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	18.97	3.736478	0.69189	2.27E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.51071	0.72;1.33;1.33;1.28	5.57	4.7	0.59300	.	0.000000	0.64402	D	0.000019	T	0.55417	0.1919	L	0.34521	1.04	0.31583	N	0.654904	D	0.89917	1.0	D	0.91635	0.999	T	0.62310	-0.6881	10	0.59425	D	0.04	-26.0866	10.4729	0.44648	0.0:0.8522:0.0:0.1478	.	343	Q6ZP82	CC141_HUMAN	N	918;362;343;918	ENSP00000395995:K918N;ENSP00000344627:K362N;ENSP00000295723:K343N;ENSP00000390190:K918N	ENSP00000295723:K343N	K	-	3	2	CCDC141	179429340	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.896000	0.39789	1.363000	0.46019	0.557000	0.71058	AAG		0.284	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CWC22	57703	broad.mit.edu	37	2	180829305	180829305	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:180829305G>A	ENST00000410053.3	-	13	1665	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	CWC22_ENST00000295749.6_Missense_Mutation_p.R456C	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	456	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R456C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ATTGTACGACGAAATGAGACC	0.323																																					p.R456C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1366T	2						.						118.0	109.0	111.0					2																	180829305		1839	4087	5926	180537550	SO:0001583	missense	57703	exon13				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1366C>T	2.37:g.180829305G>A	ENSP00000387006:p.Arg456Cys	Somatic		Capture	Illumina HiSeq	Phase_I	180537550	NM_020943	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025715	0.75390	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.36157	1.27;1.27;1.27	5.65	4.77	0.60923	Initiation factor eIF-4 gamma, MA3 (3);	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.79415	-0.1813	10	0.87932	D	0	-8.6044	13.5387	0.61662	0.0758:0.0:0.9242:0.0	.	456	Q9HCG8	CWC22_HUMAN	C	456	ENSP00000387006:R456C;ENSP00000295749:R456C;ENSP00000384159:R456C	ENSP00000295749:R456C	R	-	1	0	CWC22	180537550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.188000	0.77739	1.379000	0.46325	0.650000	0.86243	CGT		0.323	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
CWC22	57703	broad.mit.edu	37	2	180837941	180837941	+	Silent	SNP	C	C	T	rs367980851		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	261	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.A261A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAATAAGATGCGCCACAAATT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14506	0.0		0.0	False		,,,				2504	0.0				p.A261A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G783A	2						.	T		5,3695		0,5,1845	57.0	53.0	55.0		783	-6.3	1.0	2		55	0,8194		0,0,4097	no	coding-synonymous	CWC22	NM_020943.2		0,5,5942	TT,TC,CC		0.0,0.1351,0.042		261/909	180837941	5,11889	1850	4097	5947	180546186	SO:0001819	synonymous_variant	57703	exon8				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.783G>A	2.37:g.180837941C>T		Somatic		Capture	Illumina HiSeq	Phase_I	180546186	NM_020943	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	CCDS46465.1																																																																																				0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
CERKL	375298	broad.mit.edu	37	2	182423376	182423376	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:182423376C>A	ENST00000339098.5	-	6	814	c.815G>T	c.(814-816)aGa>aTa	p.R272I	CERKL_ENST00000410087.3_Missense_Mutation_p.R246I|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R228I			Q49MI3	CERKL_HUMAN	ceramide kinase-like	272	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R246I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTCTGAGCTCTCAGAAGCAA	0.473																																					p.R246I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737T	2						.						112.0	114.0	113.0					2																	182423376		1996	4163	6159	182131621	SO:0001583	missense	375298	exon5			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.815G>T	2.37:g.182423376C>A	ENSP00000341159:p.Arg272Ile	Somatic		Capture	Illumina HiSeq	Phase_I	182131621	NM_201548	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096669	0.94197	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.25912	1.77;1.77;1.77	5.93	5.93	0.95920	Diacylglycerol kinase, catalytic domain (2);	0.055456	0.64402	D	0.000001	T	0.57080	0.2029	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.984;0.991	T	0.62450	-0.6852	10	0.87932	D	0	.	15.4822	0.75537	0.0:0.9321:0.0:0.0679	.	228;246;272	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	I	246;228;272	ENSP00000386725:R246I;ENSP00000387080:R228I;ENSP00000341159:R272I	ENSP00000341159:R272I	R	-	2	0	CERKL	182131621	1.000000	0.71417	0.917000	0.36280	0.968000	0.65278	4.132000	0.57977	2.814000	0.96858	0.591000	0.81541	AGA		0.473	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		
SSFA2	6744	broad.mit.edu	37	2	182761652	182761652	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:182761652G>T	ENST00000431877.2	+	4	504	c.325G>T	c.(325-327)Gga>Tga	p.G109*	SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.G109*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.G109*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	109						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G109*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGTGAGAAATGGAGGAAGTTT	0.343																																					p.G109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G325T	2						.						345.0	344.0	344.0					2																	182761652		2203	4300	6503	182469897	SO:0001587	stop_gained	6744	exon4			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.325G>T	2.37:g.182761652G>T	ENSP00000388731:p.Gly109*	Somatic		Capture	Illumina HiSeq	Phase_I	182469897	NM_006751	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	37	6.137247	0.97315	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001	.	.	.	5.77	5.77	0.91146	.	0.053975	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.6281	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000314669:G109X	G	+	1	0	SSFA2	182469897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.190000	0.77755	2.885000	0.99019	0.655000	0.94253	GGA		0.343	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	
FRZB	2487	broad.mit.edu	37	2	183699685	183699685	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:183699685T>C	ENST00000295113.4	-	6	1478	c.869A>G	c.(868-870)gAt>gGt	p.D290G		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	290	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D290G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			AAGCTTCATATCCCAGCGCTG	0.433																																					p.D290G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A869G	2						.						87.0	83.0	85.0					2																	183699685		2203	4300	6503	183407930	SO:0001583	missense	2487	exon6			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.869A>G	2.37:g.183699685T>C	ENSP00000295113:p.Asp290Gly	Somatic		Capture	Illumina HiSeq	Phase_I	183407930	NM_001463	O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941426	0.53079	.	.	ENSG00000162998	ENST00000295113	T	0.73363	-0.74	5.6	5.6	0.85130	Netrin domain (1);Netrin module, non-TIMP type (1);	0.046427	0.85682	D	0.000000	T	0.69949	0.3168	L	0.44542	1.39	0.80722	D	1	B	0.25048	0.117	B	0.28916	0.096	T	0.67205	-0.5729	10	0.44086	T	0.13	.	15.7981	0.78428	0.0:0.0:0.0:1.0	.	290	Q92765	SFRP3_HUMAN	G	290	ENSP00000295113:D290G	ENSP00000295113:D290G	D	-	2	0	FRZB	183407930	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.505000	0.66981	2.140000	0.66376	0.528000	0.53228	GAT		0.433	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463	
NCKAP1	10787	broad.mit.edu	37	2	183795425	183795425	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:183795425G>A	ENST00000361354.4	-	27	3323	c.2951C>T	c.(2950-2952)tCg>tTg	p.S984L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S990L|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	984					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.S990L(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATTTTACCCGATTTTTGTGA	0.353																																					p.S984L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2951T	2						.						57.0	57.0	57.0					2																	183795425		2202	4300	6502	183503670	SO:0001583	missense	10787	exon27			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2951C>T	2.37:g.183795425G>A	ENSP00000355348:p.Ser984Leu	Somatic		Capture	Illumina HiSeq	Phase_I	183503670	NM_013436	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255278	0.59321	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.31247	1.5;1.5	5.86	5.86	0.93980	.	0.110227	0.64402	D	0.000007	T	0.26738	0.0654	L	0.51422	1.61	0.80722	D	1	P;P	0.46457	0.878;0.853	B;B	0.31101	0.124;0.076	T	0.07290	-1.0780	10	0.26408	T	0.33	-15.2237	20.1951	0.98241	0.0:0.0:1.0:0.0	.	984;990	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	984;990	ENSP00000355348:S984L;ENSP00000354251:S990L	ENSP00000354251:S990L	S	-	2	0	NCKAP1	183503670	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.133000	0.77259	2.780000	0.95670	0.585000	0.79938	TCG		0.353	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
NUP35	129401	broad.mit.edu	37	2	184023042	184023042	+	Missense_Mutation	SNP	G	G	A	rs201723215	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:184023042G>A	ENST00000295119.4	+	7	744	c.641G>A	c.(640-642)cGt>cAt	p.R214H	NUP35_ENST00000541912.1_Missense_Mutation_p.R79H|NUP35_ENST00000409798.1_Missense_Mutation_p.R197H	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	214	RRM Nup35-type. {ECO:0000255|PROSITE- ProRule:PRU00804}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R214H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						ATGCATATTCGTTATCAATCT	0.323													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18300	0.004		0.0	False		,,,				2504	0.0				p.R214H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	2						.						69.0	68.0	68.0					2																	184023042		2203	4300	6503	183731287	SO:0001583	missense	129401	exon7			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.641G>A	2.37:g.184023042G>A	ENSP00000295119:p.Arg214His	Somatic		Capture	Illumina HiSeq	Phase_I	183731287	NM_138285	B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	ENST00000295119.4	37	CCDS2290.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306287	0.40795	.	.	ENSG00000163002	ENST00000409798;ENST00000295119;ENST00000541912	.	.	.	5.77	2.88	0.33553	.	0.207230	0.53938	N	0.000055	T	0.31544	0.0800	N	0.12961	0.28	0.53688	D	0.999976	B	0.20671	0.047	B	0.16722	0.016	T	0.07597	-1.0764	9	0.39692	T	0.17	-7.1392	7.8954	0.29704	0.3288:0.0:0.6712:0.0	.	214	Q8NFH5	NUP53_HUMAN	H	197;214;79	.	ENSP00000295119:R214H	R	+	2	0	NUP35	183731287	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.475000	0.53136	0.837000	0.34925	0.655000	0.94253	CGT		0.323	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285	
FSIP2	401024	broad.mit.edu	37	2	186671208	186671208	+	Silent	SNP	G	G	A	rs371077576		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:186671208G>A	ENST00000424728.1	+	17	17175	c.17175G>A	c.(17173-17175)tcG>tcA	p.S5725S	FSIP2_ENST00000343098.5_Silent_p.S5814S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5725								p.S423S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GCAGGGATTCGGCACAGTCTG	0.373																																					p.S5814S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G17442A	2						.	G		0,3626		0,0,1813	73.0	69.0	70.0		17442	-6.6	0.0	2		70	1,8139		0,1,4069	no	coding-synonymous	FSIP2	NM_173651.2		0,1,5882	AA,AG,GG		0.0123,0.0,0.0085		5814/6997	186671208	1,11765	1813	4070	5883	186379453	SO:0001819	synonymous_variant	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17175G>A	2.37:g.186671208G>A		Somatic		Capture	Illumina HiSeq	Phase_I	186379453	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																					0.373	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FAM171B	165215	broad.mit.edu	37	2	187616024	187616024	+	Missense_Mutation	SNP	G	G	T	rs139234915		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:187616024G>T	ENST00000304698.5	+	5	1091	c.888G>T	c.(886-888)atG>atT	p.M296I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	296						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.M296I(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATTTGATATGAACACAGGTA	0.363																																					p.M296I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G888T	2						.						64.0	65.0	65.0					2																	187616024		2203	4300	6503	187324269	SO:0001583	missense	165215	exon5			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.888G>T	2.37:g.187616024G>T	ENSP00000304108:p.Met296Ile	Somatic		Capture	Illumina HiSeq	Phase_I	187324269	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975886	0.53720	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.29655	1.56	5.49	5.49	0.81192	.	0.175744	0.64402	D	0.000013	T	0.32645	0.0836	L	0.44542	1.39	0.51233	D	0.999917	P;P	0.39624	0.681;0.681	B;B	0.40741	0.339;0.339	T	0.03807	-1.1002	10	0.42905	T	0.14	-26.4673	17.5582	0.87898	0.0:0.0:1.0:0.0	.	296;297	Q6P995;A8K122	F171B_HUMAN;.	I	296	ENSP00000304108:M296I	ENSP00000272804:M296I	M	+	3	0	FAM171B	187324269	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.699000	0.84547	2.581000	0.87130	0.609000	0.83330	ATG		0.363	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
COL3A1	1281	broad.mit.edu	37	2	189873847	189873847	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:189873847T>C	ENST00000304636.3	+	48	3893	c.3723T>C	c.(3721-3723)gtT>gtC	p.V1241V	COL3A1_ENST00000317840.5_Silent_p.V938V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1241	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.			V -> A (in Ref. 20; CAA29886 and 23; CAA25879). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.V1241V(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCAAGTCTGTTAATGGACAAA	0.428																																					p.V1241V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3723C	2						.						97.0	101.0	100.0					2																	189873847		2203	4300	6503	189582092	SO:0001819	synonymous_variant	1281	exon48			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3723T>C	2.37:g.189873847T>C		Somatic		Capture	Illumina HiSeq	Phase_I	189582092	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.428	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
COL5A2	1290	broad.mit.edu	37	2	189901447	189901447	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:189901447A>G	ENST00000374866.3	-	52	4282	c.4008T>C	c.(4006-4008)tgT>tgC	p.C1336C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1336	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.C1336C(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGCTGAAATACATGTTTCTC	0.393																																					p.C1336C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4008C	2						.						110.0	98.0	102.0					2																	189901447		2203	4300	6503	189609692	SO:0001819	synonymous_variant	1290	exon52			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4008T>C	2.37:g.189901447A>G		Somatic		Capture	Illumina HiSeq	Phase_I	189609692	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																				0.393	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
COL5A2	1290	broad.mit.edu	37	2	189917694	189917694	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:189917694C>A	ENST00000374866.3	-	39	2878	c.2604G>T	c.(2602-2604)caG>caT	p.Q868H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	868					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.Q868H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CATCTCCCTTCTGTCCTGGCT	0.443																																					p.Q868H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2604T	2						.						92.0	84.0	87.0					2																	189917694		2203	4300	6503	189625939	SO:0001583	missense	1290	exon39			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2604G>T	2.37:g.189917694C>A	ENSP00000364000:p.Gln868His	Somatic		Capture	Illumina HiSeq	Phase_I	189625939	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430581	0.43122	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94280	-3.39	5.3	4.42	0.53409	.	0.000000	0.48767	D	0.000177	D	0.93930	0.8057	L	0.43598	1.365	0.58432	D	0.999998	D;D	0.67145	0.99;0.996	D;D	0.81914	0.992;0.995	D	0.92487	0.5997	9	.	.	.	.	9.0478	0.36358	0.0:0.7782:0.0:0.2218	.	508;868	Q5PR22;P05997	.;CO5A2_HUMAN	H	868;508	ENSP00000364000:Q868H	.	Q	-	3	2	COL5A2	189625939	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.637000	0.24659	1.375000	0.46248	-0.203000	0.12734	CAG		0.443	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
COL5A2	1290	broad.mit.edu	37	2	189975131	189975131	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:189975131A>G	ENST00000374866.3	-	2	416	c.142T>C	c.(142-144)Tac>Cac	p.Y48H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	48	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.Y48H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTGTTTAAGTACATCTGGCCA	0.398																																					p.Y48H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T142C	2						.						88.0	86.0	86.0					2																	189975131		2203	4300	6503	189683376	SO:0001583	missense	1290	exon2			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.142T>C	2.37:g.189975131A>G	ENSP00000364000:p.Tyr48His	Somatic		Capture	Illumina HiSeq	Phase_I	189683376	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574648	0.86542	.	.	ENSG00000204262	ENST00000374866	T	0.75050	-0.9	5.44	5.44	0.79542	von Willebrand factor, type C (3);	0.142482	0.32328	N	0.006260	T	0.80999	0.4732	L	0.47190	1.495	0.58432	D	0.999999	D	0.63046	0.992	D	0.64877	0.93	T	0.80067	-0.1537	9	.	.	.	.	15.7798	0.78252	1.0:0.0:0.0:0.0	.	48	P05997	CO5A2_HUMAN	H	48	ENSP00000364000:Y48H	.	Y	-	1	0	COL5A2	189683376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.268000	0.95675	2.182000	0.69389	0.533000	0.62120	TAC		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
WDR75	84128	broad.mit.edu	37	2	190332278	190332278	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:190332278C>T	ENST00000314761.4	+	14	1592	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	511						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S511F(1)|p.S511Y(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GAAGATGGTTCTTTACTAGCA	0.383																																					p.S511F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1532T	2						.						154.0	148.0	150.0					2																	190332278		2203	4300	6503	190040523	SO:0001583	missense	84128	exon14			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1532C>T	2.37:g.190332278C>T	ENSP00000314193:p.Ser511Phe	Somatic		Capture	Illumina HiSeq	Phase_I	190040523	NM_032168	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766333	0.90020	.	.	ENSG00000115368	ENST00000314761	T	0.05258	3.47	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.00116	-1.2036	10	0.87932	D	0	-23.6302	20.5632	0.99335	0.0:1.0:0.0:0.0	.	511;511	A8K330;Q8IWA0	.;WDR75_HUMAN	F	511	ENSP00000314193:S511F	ENSP00000314193:S511F	S	+	2	0	WDR75	190040523	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.892000	0.75644	2.937000	0.99478	0.650000	0.86243	TCT		0.383	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	
STAT1	6772	broad.mit.edu	37	2	191854351	191854351	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:191854351A>C	ENST00000361099.3	-	12	1474	c.1087T>G	c.(1087-1089)Tta>Gta	p.L363V	STAT1_ENST00000409465.1_Missense_Mutation_p.L363V|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.L365V|STAT1_ENST00000392322.3_Missense_Mutation_p.L363V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	363					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.L363V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TTATCAAATAAGACTTTGACT	0.269																																					p.L363V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1087G	2						.						22.0	24.0	23.0					2																	191854351		2178	4283	6461	191562596	SO:0001583	missense	6772	exon12				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1087T>G	2.37:g.191854351A>C	ENSP00000354394:p.Leu363Val	Somatic		Capture	Illumina HiSeq	Phase_I	191562596	NM_007315	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	A	4.534	0.099093	0.08681	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.56	0.498	0.16908	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.541170	0.18652	N	0.134964	T	0.73032	0.3535	L	0.46157	1.445	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.58752	-0.7581	10	0.02654	T	1	-6.7158	7.0439	0.25035	0.5526:0.1169:0.3304:0.0	.	363;363	P42224-2;P42224	.;STAT1_HUMAN	V	363;363;363;365	ENSP00000354394:L363V;ENSP00000386244:L363V;ENSP00000376136:L363V;ENSP00000376137:L365V	ENSP00000354394:L363V	L	-	1	2	STAT1	191562596	0.000000	0.05858	0.997000	0.53966	0.993000	0.82548	-0.456000	0.06754	0.070000	0.16634	0.454000	0.30748	TTA		0.269	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
MYO1B	4430	broad.mit.edu	37	2	192250679	192250679	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:192250679T>G	ENST00000392318.3	+	16	1670	c.1423T>G	c.(1423-1425)Ttc>Gtc	p.F475V	MYO1B_ENST00000304164.4_Missense_Mutation_p.F475V|MYO1B_ENST00000339514.4_Missense_Mutation_p.F475V|MYO1B_ENST00000392316.1_Missense_Mutation_p.F475V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	475	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F475V(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGATGAGACCTTCTTAGAAAA	0.483																																					p.F475V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1423G	2						.						211.0	198.0	202.0					2																	192250679		2203	4300	6503	191958924	SO:0001583	missense	4430	exon16			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1423T>G	2.37:g.192250679T>G	ENSP00000376132:p.Phe475Val	Somatic		Capture	Illumina HiSeq	Phase_I	191958924	NM_012223	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114854	0.77210	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.23	4.05	0.47172	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96510	0.8861	H	0.96365	3.81	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.75020	0.985;0.985;0.966	D	0.96798	0.9587	10	0.87932	D	0	.	12.657	0.56793	0.0:0.0:0.1379:0.862	.	475;475;475	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	V	475	ENSP00000341903:F475V;ENSP00000376132:F475V;ENSP00000306382:F475V;ENSP00000376130:F475V	ENSP00000306382:F475V	F	+	1	0	MYO1B	191958924	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.997000	0.88414	0.912000	0.36772	0.472000	0.43445	TTC		0.483	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
MYO1B	4430	broad.mit.edu	37	2	192261198	192261198	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:192261198T>G	ENST00000392318.3	+	21	2517	c.2270T>G	c.(2269-2271)aTt>aGt	p.I757S	MYO1B_ENST00000439065.2_Missense_Mutation_p.I31S|MYO1B_ENST00000304164.4_Missense_Mutation_p.I757S|MYO1B_ENST00000339514.4_Missense_Mutation_p.I757S|MYO1B_ENST00000392316.1_Missense_Mutation_p.I757S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	757	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I757S(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCCTTAGTAATTCAGTCTTAT	0.373																																					p.I757S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2270G	2						.						149.0	147.0	148.0					2																	192261198		2203	4300	6503	191969443	SO:0001583	missense	4430	exon21			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2270T>G	2.37:g.192261198T>G	ENSP00000376132:p.Ile757Ser	Somatic		Capture	Illumina HiSeq	Phase_I	191969443	NM_012223	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709115	0.89018	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.67	5.67	0.87782	.	0.226112	0.45867	D	0.000321	T	0.70176	0.3194	M	0.87269	2.87	0.46725	D	0.99917	B;P;B	0.37955	0.055;0.612;0.403	B;P;P	0.54312	0.055;0.748;0.579	T	0.74529	-0.3635	10	0.87932	D	0	.	14.4774	0.67557	0.0:0.0:0.0:1.0	.	31;757;757	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	S	757;757;757;757;31	ENSP00000341903:I757S;ENSP00000376132:I757S;ENSP00000306382:I757S;ENSP00000376130:I757S;ENSP00000391442:I31S	ENSP00000306382:I757S	I	+	2	0	MYO1B	191969443	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.347000	0.79356	2.154000	0.67381	0.533000	0.62120	ATT		0.373	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
TMEFF2	23671	broad.mit.edu	37	2	192863795	192863795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:192863795G>A	ENST00000272771.5	-	6	1860	c.676C>T	c.(676-678)Cga>Tga	p.R226*	AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000392314.1_Nonsense_Mutation_p.R226*|AC098617.1_ENST00000424116.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	226	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R226*(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCTTGACATCGACCCAAAGAC	0.363																																					p.R226X	Pancreas(50;1277 1381 28487 47072)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C676T	2						.						137.0	129.0	132.0					2																	192863795		2203	4300	6503	192572040	SO:0001587	stop_gained	23671	exon6			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.676C>T	2.37:g.192863795G>A	ENSP00000272771:p.Arg226*	Somatic		Capture	Illumina HiSeq	Phase_I	192572040	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Nonsense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	49	15.837507	0.99846	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	.	.	.	5.6	5.6	0.85130	.	0.220309	0.40640	N	0.001060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-7.1623	19.9854	0.97342	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000272771:R226X	R	-	1	2	TMEFF2	192572040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.786000	0.95864	0.563000	0.77884	CGA		0.363	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
DNAH7	56171	broad.mit.edu	37	2	196681640	196681640	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:196681640G>A	ENST00000312428.6	-	51	9573	c.9473C>T	c.(9472-9474)tCg>tTg	p.S3158L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3158	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.S3158L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTGCCTTCCGAAGATGAAAG	0.323																																					p.S3158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9473T	2						.						52.0	51.0	51.0					2																	196681640		1802	4072	5874	196389885	SO:0001583	missense	56171	exon51			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9473C>T	2.37:g.196681640G>A	ENSP00000311273:p.Ser3158Leu	Somatic		Capture	Illumina HiSeq	Phase_I	196389885	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039776	0.93630	.	.	ENSG00000118997	ENST00000312428	T	0.53640	0.61	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	H	0.98111	4.15	0.80722	D	1	D	0.65815	0.995	D	0.67548	0.952	D	0.87800	0.2624	10	0.87932	D	0	.	18.6388	0.91387	0.0:0.0:1.0:0.0	.	3158	Q8WXX0	DYH7_HUMAN	L	3158	ENSP00000311273:S3158L	ENSP00000311273:S3158L	S	-	2	0	DNAH7	196389885	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.766000	0.85320	2.732000	0.93576	0.591000	0.81541	TCG		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196765043	196765043	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:196765043G>A	ENST00000312428.6	-	28	4611	c.4511C>T	c.(4510-4512)gCc>gTc	p.A1504V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1504	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.A1504V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACTTCACGGCTCTCATTCC	0.423																																					p.A1504V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4511T	2						.						156.0	155.0	155.0					2																	196765043		1973	4161	6134	196473288	SO:0001583	missense	56171	exon28			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4511C>T	2.37:g.196765043G>A	ENSP00000311273:p.Ala1504Val	Somatic		Capture	Illumina HiSeq	Phase_I	196473288	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293999	0.95546	.	.	ENSG00000118997	ENST00000312428	T	0.14022	2.54	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71241	-0.4651	10	0.87932	D	0	.	18.1346	0.89614	0.0:0.0:1.0:0.0	.	1504	Q8WXX0	DYH7_HUMAN	V	1504	ENSP00000311273:A1504V	ENSP00000311273:A1504V	A	-	2	0	DNAH7	196473288	1.000000	0.71417	0.955000	0.39395	0.969000	0.65631	9.640000	0.98453	2.617000	0.88574	0.557000	0.71058	GCC		0.423	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196891621	196891621	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:196891621A>G	ENST00000312428.6	-	7	630	c.530T>C	c.(529-531)gTa>gCa	p.V177A	DNAH7_ENST00000410072.1_Missense_Mutation_p.V177A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	177	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V177A(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTGGGGCTACATGGTCTGT	0.333																																					p.V177A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T530C	2						.						128.0	117.0	120.0					2																	196891621		1848	4086	5934	196599866	SO:0001583	missense	56171	exon7			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.530T>C	2.37:g.196891621A>G	ENSP00000311273:p.Val177Ala	Somatic		Capture	Illumina HiSeq	Phase_I	196599866	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576063	0.86645	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.26373	1.74;2.47	5.7	5.7	0.88788	.	0.073516	0.52532	D	0.000066	T	0.30008	0.0751	L	0.58810	1.83	0.51767	D	0.999931	B	0.24368	0.102	B	0.25614	0.062	T	0.04281	-1.0963	10	0.52906	T	0.07	.	15.6234	0.76829	1.0:0.0:0.0:0.0	.	177	Q8WXX0	DYH7_HUMAN	A	177	ENSP00000311273:V177A;ENSP00000386260:V177A	ENSP00000311273:V177A	V	-	2	0	DNAH7	196599866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.167000	0.68274	0.528000	0.53228	GTA		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	broad.mit.edu	37	2	197183443	197183443	+	Missense_Mutation	SNP	G	G	A	rs143673662		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:197183443G>A	ENST00000260983.3	-	9	2353	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	HECW2_ENST00000409111.1_Missense_Mutation_p.S368L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	724					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S724L(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACAGTGGCCGATTCTGCCCC	0.647																																					p.S724L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2171T	2						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	30.0	32.0	32.0		2171	2.7	0.0	2	dbSNP_134	32	0,8600		0,0,4300	no	missense	HECW2	NM_020760.1	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	724/1573	197183443	1,13005	2203	4300	6503	196891688	SO:0001583	missense	57520	exon9			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2171C>T	2.37:g.197183443G>A	ENSP00000260983:p.Ser724Leu	Somatic		Capture	Illumina HiSeq	Phase_I	196891688	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487353	0.26686	2.27E-4	0.0	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30981	1.51;1.51	4.69	2.66	0.31614	.	2.800840	0.00851	N	0.001826	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.15407	-1.0438	10	0.46703	T	0.11	.	5.3432	0.15994	0.0895:0.1432:0.6206:0.1466	.	724	Q9P2P5	HECW2_HUMAN	L	368;724	ENSP00000386775:S368L;ENSP00000260983:S724L	ENSP00000260983:S724L	S	-	2	0	HECW2	196891688	0.000000	0.05858	0.003000	0.11579	0.974000	0.67602	-0.026000	0.12392	1.154000	0.42482	0.462000	0.41574	TCG		0.647	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197183634	197183634	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:197183634G>A	ENST00000260983.3	-	9	2162	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	HECW2_ENST00000409111.1_Silent_p.C304C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	660					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.C660C(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAAGAGAGGAGCACCGTGTGT	0.602																																					p.C660C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1980T	2						.						81.0	67.0	72.0					2																	197183634		2203	4300	6503	196891879	SO:0001819	synonymous_variant	57520	exon9			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1980C>T	2.37:g.197183634G>A		Somatic		Capture	Illumina HiSeq	Phase_I	196891879	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.602	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
GTF3C3	9330	broad.mit.edu	37	2	197637854	197637854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:197637854C>T	ENST00000263956.3	-	14	1944	c.1855G>A	c.(1855-1857)Gtc>Atc	p.V619I		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	619					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.V619I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGTCAAGACGCTTGTGAGC	0.398																																					p.V619I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1855A	2						.						121.0	115.0	117.0					2																	197637854		2203	4300	6503	197346099	SO:0001583	missense	9330	exon14			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1855G>A	2.37:g.197637854C>T	ENSP00000263956:p.Val619Ile	Somatic		Capture	Illumina HiSeq	Phase_I	197346099	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159656|3.159656	0.57368|0.57368	.|.	.|.	ENSG00000119041|ENSG00000119041	ENST00000416690|ENST00000263956	.|T	.|0.46063	.|0.88	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25419|0.25419	0.0618|0.0618	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P	.|0.40107	.|0.703	.|B	.|0.26693	.|0.072	T|T	0.08576|0.08576	-1.0715|-1.0715	5|10	.|0.16896	.|T	.|0.51	-18.0058|-18.0058	18.4287|18.4287	0.90618|0.90618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|619	.|Q9Y5Q9	.|TF3C3_HUMAN	H|I	68|619	.|ENSP00000263956:V619I	.|ENSP00000263956:V619I	R|V	-|-	2|1	0|0	GTF3C3|GTF3C3	197346099|197346099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.502000|0.502000	0.33828|0.33828	7.272000|7.272000	0.78516|0.78516	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	CGT|GTC		0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
SF3B1	23451	broad.mit.edu	37	2	198265573	198265573	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:198265573C>T	ENST00000335508.6	-	18	2675	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	862					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.E862K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTACTGTTCGGCTTCATCT	0.373			Mis		myelodysplastic syndrome																																p.E862K			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2584A	2						.						142.0	139.0	140.0					2																	198265573		2203	4300	6503	197973818	SO:0001583	missense	23451	exon18			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2584G>A	2.37:g.198265573C>T	ENSP00000335321:p.Glu862Lys	Somatic		Capture	Illumina HiSeq	Phase_I	197973818	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406352	0.96051	.	.	ENSG00000115524	ENST00000335508	T	0.67171	-0.25	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88999	0.3420	10	0.87932	D	0	.	20.2175	0.98301	0.0:1.0:0.0:0.0	.	862	O75533	SF3B1_HUMAN	K	862	ENSP00000335321:E862K	ENSP00000335321:E862K	E	-	1	0	SF3B1	197973818	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.717000	0.84732	2.850000	0.98022	0.655000	0.94253	GAA		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
COQ10B	80219	broad.mit.edu	37	2	198324736	198324736	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:198324736G>A	ENST00000263960.2	+	2	323	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	COQ10B_ENST00000545340.1_Missense_Mutation_p.R19Q|COQ10B_ENST00000409398.1_Intron|COQ10B_ENST00000409010.1_Missense_Mutation_p.R34Q	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	62						mitochondrial inner membrane (GO:0005743)		p.R62Q(1)		endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATATGTGCACGAACTTTCTTC	0.338																																					p.R62Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185A	2						.						84.0	82.0	83.0					2																	198324736		2203	4300	6503	198032981	SO:0001583	missense	80219	exon2			AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.185G>A	2.37:g.198324736G>A	ENSP00000263960:p.Arg62Gln	Somatic		Capture	Illumina HiSeq	Phase_I	198032981	NM_025147	B7Z1Y4	Missense_Mutation	SNP	ENST00000263960.2	37	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591915	0.66219	.	.	ENSG00000115520	ENST00000263960;ENST00000545340;ENST00000409010	T;T;T	0.30714	1.62;1.52;1.59	5.62	5.62	0.85841	.	0.090457	0.85682	D	0.000000	T	0.51753	0.1693	M	0.75615	2.305	0.37913	D	0.931444	D;D	0.67145	0.989;0.996	P;P	0.54590	0.613;0.756	T	0.59048	-0.7527	10	0.62326	D	0.03	-2.1932	19.6505	0.95798	0.0:0.0:1.0:0.0	.	34;62	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	Q	62;19;34	ENSP00000263960:R62Q;ENSP00000442520:R19Q;ENSP00000387223:R34Q	ENSP00000263960:R62Q	R	+	2	0	COQ10B	198032981	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	6.705000	0.74644	2.636000	0.89361	0.561000	0.74099	CGA		0.338	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147	
MOB4	25843	broad.mit.edu	37	2	198400296	198400296	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:198400296A>G	ENST00000323303.4	+	3	421	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	MOB4_ENST00000233892.4_Missense_Mutation_p.K24E|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000497443.1_Intron|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.K92E|MOB4_ENST00000448447.2_Missense_Mutation_p.K35E|MOB4_ENST00000409360.1_Missense_Mutation_p.K24E	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	56					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.K56E(1)									CAATATTGACAAAATTCTTGA	0.323																																					p.K24E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A70G	2						.						123.0	128.0	126.0					2																	198400296		2203	4299	6502	198108541	SO:0001583	missense	25843	exon3			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.166A>G	2.37:g.198400296A>G	ENSP00000315702:p.Lys56Glu	Somatic		Capture	Illumina HiSeq	Phase_I	198108541	NM_199482	B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	8.896	0.955103	0.18507	.	.	ENSG00000115540	ENST00000233892;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	4.99	4.99	0.66335	.	0.045120	0.85682	D	0.000000	T	0.31575	0.0801	N	0.04297	-0.235	0.53005	D	0.99996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28554	-1.0040	9	0.02654	T	1	.	14.9787	0.71296	1.0:0.0:0.0:0.0	.	35;56	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	E	24;56;35;24	.	ENSP00000233892:K24E	K	+	1	0	PHOCN	198108541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.163000	0.94750	2.009000	0.58944	0.377000	0.23210	AAA		0.323	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
RFTN2	130132	broad.mit.edu	37	2	198495761	198495761	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:198495761G>A	ENST00000295049.4	-	5	1438	c.902C>T	c.(901-903)tCt>tTt	p.S301F		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	301					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.S301F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GAATACAAAAGAATCAATTAA	0.289																																					p.S301F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	2						.						56.0	55.0	56.0					2																	198495761		2203	4300	6503	198204006	SO:0001583	missense	130132	exon5			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.902C>T	2.37:g.198495761G>A	ENSP00000295049:p.Ser301Phe	Somatic		Capture	Illumina HiSeq	Phase_I	198204006	NM_144629	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606768	0.87157	.	.	ENSG00000162944	ENST00000295049	T	0.38077	1.16	5.72	5.72	0.89469	.	0.110452	0.64402	D	0.000004	T	0.58323	0.2114	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.59348	-0.7471	10	0.87932	D	0	-16.244	18.0774	0.89432	0.0:0.0:1.0:0.0	.	301	Q52LD8	RFTN2_HUMAN	F	301	ENSP00000295049:S301F	ENSP00000295049:S301F	S	-	2	0	RFTN2	198204006	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.618000	0.67722	2.691000	0.91804	0.655000	0.94253	TCT		0.289	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
AOX1	316	broad.mit.edu	37	2	201521566	201521566	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:201521566C>T	ENST00000374700.2	+	27	3318	c.3077C>T	c.(3076-3078)gCt>gTt	p.A1026V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1026					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A1026V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTGCTCAGGCTGCTGCCTTG	0.408																																					p.A1026V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3077T	2						.						105.0	96.0	99.0					2																	201521566		2203	4300	6503	201229811	SO:0001630	splice_region_variant	316	exon27			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3076-1C>T	2.37:g.201521566C>T		Somatic		Capture	Illumina HiSeq	Phase_I	201229811	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600514	0.87055	.	.	ENSG00000138356	ENST00000374700	T	0.46063	0.88	5.41	4.53	0.55603	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.93106	3.38	0.80722	D	1	D	0.57257	0.979	P	0.57283	0.817	T	0.78633	-0.2128	10	0.66056	D	0.02	-31.3736	15.9957	0.80237	0.0:0.7469:0.2531:0.0	.	1026	Q06278	ADO_HUMAN	V	1026	ENSP00000363832:A1026V	ENSP00000363832:A1026V	A	+	2	0	AOX1	201229811	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.928000	0.48908	1.497000	0.48584	0.561000	0.74099	GCT		0.408	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation
CLK1	1195	broad.mit.edu	37	2	201721693	201721693	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:201721693T>G	ENST00000321356.4	-	8	983	c.848A>C	c.(847-849)aAg>aCg	p.K283T	CLK1_ENST00000409769.2_Missense_Mutation_p.K106T|CLK1_ENST00000434813.2_Missense_Mutation_p.K325T	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.K283T(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTGAGTCAACTTATTACTGTG	0.393																																					p.K325T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A974C	2						.						80.0	81.0	81.0					2																	201721693		2203	4300	6503	201429938	SO:0001583	missense	1195	exon8			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.848A>C	2.37:g.201721693T>G	ENSP00000326830:p.Lys283Thr	Somatic		Capture	Illumina HiSeq	Phase_I	201429938	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241846	0.79912	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.21191	2.02;2.02;2.02	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045354	0.85682	D	0.000000	T	0.41213	0.1149	L	0.58810	1.83	0.58432	D	0.999999	P;P;P;P	0.52577	0.912;0.947;0.947;0.954	P;P;D;P	0.63877	0.832;0.891;0.919;0.889	T	0.26677	-1.0096	10	0.87932	D	0	.	14.372	0.66846	0.0:0.0:0.0:1.0	.	325;253;283;106	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	T	283;253;106;325	ENSP00000326830:K283T;ENSP00000386358:K106T;ENSP00000394734:K325T	ENSP00000326830:K283T	K	-	2	0	CLK1	201429938	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.925000	0.87563	2.101000	0.63845	0.402000	0.26972	AAG		0.393	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		
ORC2	4999	broad.mit.edu	37	2	201800457	201800457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:201800457C>A	ENST00000234296.2	-	9	922	c.673G>T	c.(673-675)Gaa>Taa	p.E225*		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	225					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.E225*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAAGGTGTTTCTTTGCCAACA	0.373																																					p.E225X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G673T	2						.						147.0	144.0	145.0					2																	201800457		2202	4300	6502	201508702	SO:0001587	stop_gained	4999	exon9				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.673G>T	2.37:g.201800457C>A	ENSP00000234296:p.Glu225*	Somatic		Capture	Illumina HiSeq	Phase_I	201508702	NM_006190	Q13204|Q53TX5	Nonsense_Mutation	SNP	ENST00000234296.2	37	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	36	5.753259	0.96890	.	.	ENSG00000115942	ENST00000234296	.	.	.	5.24	4.12	0.48240	.	0.197837	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8017	8.0859	0.30771	0.0:0.8242:0.0:0.1758	.	.	.	.	X	225	.	ENSP00000234296:E225X	E	-	1	0	ORC2	201508702	0.998000	0.40836	0.982000	0.44146	0.953000	0.61014	1.567000	0.36407	2.620000	0.88729	0.555000	0.69702	GAA		0.373	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	
CFLAR	8837	broad.mit.edu	37	2	202025504	202025504	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:202025504G>T	ENST00000309955.3	+	9	1658	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CFLAR_ENST00000423241.2_Missense_Mutation_p.K381N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K285N|CFLAR_ENST00000341582.6_Missense_Mutation_p.K346N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K381N|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Missense_Mutation_p.K285N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K381N	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	381	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.K381N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CAGCGATGAAGAATGTGGAAT	0.537																																					p.K381N	Pancreas(16;548 657 22190 32864 42338)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1143T	2						.						48.0	50.0	49.0					2																	202025504		2203	4300	6503	201733749	SO:0001583	missense	8837	exon9			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1143G>T	2.37:g.202025504G>T	ENSP00000312455:p.Lys381Asn	Somatic		Capture	Illumina HiSeq	Phase_I	201733749	NM_001127183	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986553	0.18889	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.19	-6.9	0.01655	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.496790	0.03221	N	0.177577	T	0.11707	0.0285	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.15141	0.012;0.002;0.002;0.003	B;B;B;B	0.16289	0.013;0.009;0.004;0.015	T	0.20672	-1.0268	10	0.19147	T	0.46	-0.0209	2.367	0.04321	0.4636:0.1087:0.2606:0.1671	.	285;381;346;381	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	N	381;285;381;267;346;381;381	ENSP00000312455:K381N;ENSP00000413270:K285N;ENSP00000339326:K381N;ENSP00000345807:K346N;ENSP00000399420:K381N;ENSP00000411535:K381N	ENSP00000312455:K381N	K	+	3	2	CFLAR	201733749	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.881000	0.04179	-0.933000	0.03737	-0.321000	0.08615	AAG		0.537	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879	
ALS2CR11	151254	broad.mit.edu	37	2	202466489	202466489	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:202466489G>A	ENST00000286195.3	-	4	533	c.489C>T	c.(487-489)ttC>ttT	p.F163F	ALS2CR11_ENST00000439140.1_Silent_p.F163F|ALS2CR11_ENST00000439802.1_Silent_p.F163F|ALS2CR11_ENST00000450242.1_Silent_p.F163F	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	163								p.F163F(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCACTTCATCGAACTTAATTA	0.313																																					p.F163F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C489T	2						.						109.0	102.0	104.0					2																	202466489		2201	4290	6491	202174734	SO:0001819	synonymous_variant	151254	exon4			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.489C>T	2.37:g.202466489G>A		Somatic		Capture	Illumina HiSeq	Phase_I	202174734	NM_152525	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	CCDS2349.1																																																																																				0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
NOP58	51602	broad.mit.edu	37	2	203130680	203130680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:203130680G>T	ENST00000264279.5	+	1	242	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	6					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E6*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GGTGCTGTTTGAAACGTCTGT	0.572																																					p.E6X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G16T	2						.						107.0	101.0	103.0					2																	203130680		2203	4300	6503	202838925	SO:0001587	stop_gained	51602	exon1				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.16G>T	2.37:g.203130680G>T	ENSP00000264279:p.Glu6*	Somatic		Capture	Illumina HiSeq	Phase_I	202838925	NM_015934	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Nonsense_Mutation	SNP	ENST00000264279.5	37	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529531	0.85706	.	.	ENSG00000055044	ENST00000264279	.	.	.	4.68	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	2.753	14.1052	0.65085	0.0:0.1523:0.8477:0.0	.	.	.	.	X	6	.	ENSP00000264279:E6X	E	+	1	0	NOP58	202838925	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	6.097000	0.71452	1.300000	0.44818	-0.182000	0.12963	GAA		0.572	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934	
ICA1L	130026	broad.mit.edu	37	2	203653790	203653790	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:203653790C>A	ENST00000392237.2	-	12	1163	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	ICA1L_ENST00000358299.2_Missense_Mutation_p.D336Y	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	336								p.D336Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAATGAATCTACAGGTAGA	0.338																																					p.D336Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006T	2						.						61.0	68.0	66.0					2																	203653790		2203	4300	6503	203362035	SO:0001583	missense	130026	exon12			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1006G>T	2.37:g.203653790C>A	ENSP00000376070:p.Asp336Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	203362035	NM_138468	B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880364	0.33162	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000420558	.	.	.	5.78	4.9	0.64082	Islet cell autoantigen Ica1, C-terminal (1);	0.382136	0.29403	N	0.012259	T	0.69169	0.3081	M	0.64997	1.995	0.80722	D	1	D	0.63046	0.992	P	0.60789	0.879	T	0.72164	-0.4373	9	0.72032	D	0.01	.	12.1745	0.54178	0.1711:0.8289:0.0:0.0	.	336	Q8NDH6	ICA1L_HUMAN	Y	336;336;86	.	ENSP00000351047:D336Y	D	-	1	0	ICA1L	203362035	0.996000	0.38824	0.615000	0.29064	0.598000	0.36846	4.499000	0.60380	1.428000	0.47296	-0.181000	0.13052	GAT		0.338	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
PARD3B	117583	broad.mit.edu	37	2	206166260	206166260	+	Missense_Mutation	SNP	C	C	T	rs200031558		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:206166260C>T	ENST00000406610.2	+	18	2672	c.2465C>T	c.(2464-2466)tCg>tTg	p.S822L	PARD3B_ENST00000358768.2_Missense_Mutation_p.S760L|PARD3B_ENST00000462231.1_Missense_Mutation_p.S822L|PARD3B_ENST00000351153.1_Missense_Mutation_p.S753L|PARD3B_ENST00000349953.3_Missense_Mutation_p.S822L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	822					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.S761L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGGGAATTCGGAGCTAGAG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18468	0.001		0.0	False		,,,				2504	0.0				p.S753L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2258T	2						.	C	LEU/SER,LEU/SER,LEU/SER	0,3652		0,0,1826	89.0	87.0	88.0		2258,2279,2465	5.0	0.0	2	dbSNP_134	88	1,8189		0,1,4094	no	missense,missense,missense	PARD3B	NM_057177.6,NM_152526.5,NM_205863.3	145,145,145	0,1,5920	TT,TC,CC		0.0122,0.0,0.0084	benign,benign,benign	753/1137,760/1144,822/1105	206166260	1,11841	1826	4095	5921	205874505	SO:0001583	missense	117583	exon17			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2465C>T	2.37:g.206166260C>T	ENSP00000385848:p.Ser822Leu	Somatic		Capture	Illumina HiSeq	Phase_I	205874505	NM_057177	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.237	0.411789	0.11812	0.0	1.22E-4	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.87	4.98	0.66077	.	0.652897	0.15218	N	0.274079	T	0.17023	0.0409	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.32071	0.335;0.0;0.103;0.355;0.002	B;B;B;B;B	0.24974	0.057;0.001;0.017;0.05;0.002	T	0.12293	-1.0553	10	0.36615	T	0.2	.	11.8686	0.52507	0.1381:0.7292:0.1327:0.0	.	753;822;753;760;822	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	L	822;760;753;822	ENSP00000385848:S822L;ENSP00000351618:S760L;ENSP00000317261:S753L;ENSP00000340280:S822L	ENSP00000340280:S822L	S	+	2	0	PARD3B	205874505	0.000000	0.05858	0.010000	0.14722	0.298000	0.27526	0.222000	0.17699	1.458000	0.47871	0.650000	0.86243	TCG		0.428	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
GPR1	2825	broad.mit.edu	37	2	207041030	207041030	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:207041030G>T	ENST00000407325.2	-	3	1304	c.942C>A	c.(940-942)cgC>cgA	p.R314R	GPR1_ENST00000437420.1_Silent_p.R314R	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	314					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R314R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGACCGGAAGCGAGCTTGGA	0.483																																					p.R314R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942A	2						.						93.0	91.0	92.0					2																	207041030		2203	4300	6503	206749275	SO:0001819	synonymous_variant	2825	exon3				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.942C>A	2.37:g.207041030G>T		Somatic		Capture	Illumina HiSeq	Phase_I	206749275	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Silent	SNP	ENST00000407325.2	37	CCDS2368.1																																																																																				0.483	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199	
ZDBF2	57683	broad.mit.edu	37	2	207169451	207169451	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:207169451G>T	ENST00000374423.3	+	5	585	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	67							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D67Y(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCAACACAAGATGAGACACA	0.358																																					p.D67Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199T	2						.						73.0	69.0	70.0					2																	207169451		1919	4124	6043	206877696	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.199G>T	2.37:g.207169451G>T	ENSP00000363545:p.Asp67Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	206877696	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498856	0.26861	.	.	ENSG00000204186	ENST00000374423	T	0.16897	2.31	4.95	-3.19	0.05171	.	4.496360	0.00990	N	0.003511	T	0.09247	0.0228	N	0.08118	0	0.23784	N	0.996853	B	0.29716	0.255	B	0.27796	0.083	T	0.32798	-0.9893	10	0.72032	D	0.01	.	6.703	0.23234	0.1626:0.5214:0.316:0.0	.	67	Q9HCK1	ZDBF2_HUMAN	Y	67	ENSP00000363545:D67Y	ENSP00000363545:D67Y	D	+	1	0	ZDBF2	206877696	0.464000	0.25807	0.006000	0.13384	0.002000	0.02628	0.695000	0.25527	-0.380000	0.07894	-1.442000	0.01069	GAT		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207170831	207170831	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:207170831G>T	ENST00000374423.3	+	5	1965	c.1579G>T	c.(1579-1581)Gtt>Ttt	p.V527F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	527							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V527F(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CATTGGTTTGGTTGATAAGAA	0.448																																					p.V527F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1579T	2						.						160.0	149.0	153.0					2																	207170831		1893	4129	6022	206879076	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1579G>T	2.37:g.207170831G>T	ENSP00000363545:p.Val527Phe	Somatic		Capture	Illumina HiSeq	Phase_I	206879076	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351066	0.82132	.	.	ENSG00000204186	ENST00000374423	T	0.44083	0.93	3.85	3.85	0.44370	.	0.000000	0.32301	N	0.006295	T	0.59362	0.2188	M	0.67397	2.05	0.31868	N	0.620045	D	0.71674	0.998	D	0.80764	0.994	T	0.65809	-0.6078	10	0.62326	D	0.03	.	11.5814	0.50894	0.0:0.0:1.0:0.0	.	527	Q9HCK1	ZDBF2_HUMAN	F	527	ENSP00000363545:V527F	ENSP00000363545:V527F	V	+	1	0	ZDBF2	206879076	1.000000	0.71417	0.999000	0.59377	0.591000	0.36615	1.727000	0.38095	2.422000	0.82143	0.585000	0.79938	GTT		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207171056	207171056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:207171056G>T	ENST00000374423.3	+	5	2190	c.1804G>T	c.(1804-1806)Gga>Tga	p.G602*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	602							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G602*(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GACTGTCAAAGGAAGAAACCT	0.408																																					p.G602X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1804T	2						.						101.0	92.0	95.0					2																	207171056		1885	4121	6006	206879301	SO:0001587	stop_gained	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1804G>T	2.37:g.207171056G>T	ENSP00000363545:p.Gly602*	Somatic		Capture	Illumina HiSeq	Phase_I	206879301	NM_020923	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	38	6.781733	0.97833	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.33	2.54	0.30619	.	0.382325	0.19161	N	0.121190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	6.7124	0.23284	0.2029:0.0:0.7971:0.0	.	.	.	.	X	602	.	ENSP00000363545:G602X	G	+	1	0	ZDBF2	206879301	0.545000	0.26449	0.003000	0.11579	0.027000	0.11550	2.403000	0.44530	0.777000	0.33496	0.650000	0.86243	GGA		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207171874	207171874	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:207171874G>A	ENST00000374423.3	+	5	3008	c.2622G>A	c.(2620-2622)tcG>tcA	p.S874S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	874							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S874S(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATAAGTTCGGATTCCCATG	0.383																																					p.S874S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2622A	2						.						68.0	65.0	66.0					2																	207171874		1841	4094	5935	206880119	SO:0001819	synonymous_variant	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2622G>A	2.37:g.207171874G>A		Somatic		Capture	Illumina HiSeq	Phase_I	206880119	NM_020923	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207173057	207173057	+	Missense_Mutation	SNP	G	G	A	rs200401599	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:207173057G>A	ENST00000374423.3	+	5	4191	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1269							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1269K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTTTGGAAAGAGCATGTTGA	0.378																																					p.E1269K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3805A	2						.						48.0	51.0	50.0					2																	207173057		1846	4089	5935	206881302	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3805G>A	2.37:g.207173057G>A	ENSP00000363545:p.Glu1269Lys	Somatic		Capture	Illumina HiSeq	Phase_I	206881302	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	3.318	-0.139337	0.06669	.	.	ENSG00000204186	ENST00000374423	T	0.39229	1.09	3.95	-0.967	0.10316	.	.	.	.	.	T	0.29652	0.0740	L	0.38531	1.155	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.24621	-1.0155	9	0.48119	T	0.1	.	7.2975	0.26401	0.5327:0.0:0.4673:0.0	.	1269	Q9HCK1	ZDBF2_HUMAN	K	1269	ENSP00000363545:E1269K	ENSP00000363545:E1269K	E	+	1	0	ZDBF2	206881302	0.054000	0.20591	0.175000	0.22980	0.213000	0.24496	-0.474000	0.06607	-0.210000	0.10140	-0.145000	0.13849	GAG		0.378	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
KLF7	8609	broad.mit.edu	37	2	208030252	208030252	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:208030252T>C	ENST00000309446.6	-	1	417	c.41A>G	c.(40-42)cAa>cGa	p.Q14R	KLF7_ENST00000458272.1_Missense_Mutation_p.Q14R|KLF7_ENST00000423015.1_Missense_Mutation_p.Q14R|KLF7_ENST00000421199.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	14					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q14R(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GTGGACAAGTTGTAGCTCCTG	0.522																																					p.Q14R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41G	2						.						101.0	99.0	100.0					2																	208030252		2203	4300	6503	207738497	SO:0001583	missense	8609	exon1			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.41A>G	2.37:g.208030252T>C	ENSP00000309570:p.Gln14Arg	Somatic		Capture	Illumina HiSeq	Phase_I	207738497	NM_003709	B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711618	0.48517	.	.	ENSG00000118263	ENST00000309446;ENST00000423015;ENST00000458272;ENST00000426163;ENST00000457962	T;T	0.08807	3.1;3.05	4.38	4.38	0.52667	.	0.257938	0.39210	N	0.001435	T	0.22282	0.0537	L	0.50333	1.59	0.80722	D	1	D;B	0.61080	0.989;0.079	D;B	0.70487	0.969;0.051	T	0.00710	-1.1599	10	0.87932	D	0	.	13.8856	0.63706	0.0:0.0:0.0:1.0	.	14;14	Q96E51;O75840	.;KLF7_HUMAN	R	14	ENSP00000309570:Q14R;ENSP00000393268:Q14R	ENSP00000309570:Q14R	Q	-	2	0	KLF7	207738497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.727000	0.84838	1.743000	0.51761	0.379000	0.24179	CAA		0.522	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709	
METTL21A	151194	broad.mit.edu	37	2	208477906	208477906	+	Missense_Mutation	SNP	C	C	T	rs200515055	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:208477906C>T	ENST00000411432.1	-	4	737	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000425132.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	174					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.R174Q(2)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATAGCGAATTCGGCATGCTAA	0.383													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22019	0.0		0.0	False		,,,				2504	0.0				p.R174Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G521A	2						.						150.0	150.0	150.0					2																	208477906		2203	4300	6503	208186151	SO:0001583	missense	151194	exon4			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.521G>A	2.37:g.208477906C>T	ENSP00000415115:p.Arg174Gln	Somatic		Capture	Illumina HiSeq	Phase_I	208186151	NM_001127395	Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023262	0.93462	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	5.36	5.36	0.76844	.	0.163700	0.52532	D	0.000069	T	0.18173	0.0436	L	0.39692	1.235	0.54753	D	0.999983	D	0.69078	0.997	P	0.58077	0.832	T	0.00587	-1.1657	10	0.31617	T	0.26	-10.1001	19.2753	0.94029	0.0:1.0:0.0:0.0	.	174	Q8WXB1	MT21A_HUMAN	Q	174;174;192;174;174;174	ENSP00000415115:R174Q;ENSP00000407622:R174Q;ENSP00000272839:R192Q;ENSP00000385481:R174Q;ENSP00000403317:R174Q;ENSP00000392062:R174Q	ENSP00000272839:R192Q	R	-	2	0	METTL21A	208186151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.581000	0.67471	2.797000	0.96272	0.561000	0.74099	CGA		0.383	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280	
CPS1	1373	broad.mit.edu	37	2	211481245	211481245	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:211481245G>T	ENST00000233072.5	+	21	2863	c.2667G>T	c.(2665-2667)aaG>aaT	p.K889N	CPS1_ENST00000451903.2_Missense_Mutation_p.K438N|CPS1_ENST00000430249.2_Missense_Mutation_p.K895N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	889					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.K889N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ACATGGAAAAGACACTGAAAG	0.398																																					p.K438N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1314T	2						.						146.0	149.0	148.0					2																	211481245		2203	4300	6503	211189490	SO:0001583	missense	1373	exon11			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2667G>T	2.37:g.211481245G>T	ENSP00000233072:p.Lys889Asn	Somatic		Capture	Illumina HiSeq	Phase_I	211189490	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874682	0.17395	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96716	-4.1;-4.1;-4.1	5.62	2.61	0.31194	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.390280	0.34025	N	0.004334	D	0.90215	0.6941	L	0.28115	0.83	0.40672	D	0.982227	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.004	T	0.82713	-0.0321	10	0.18276	T	0.48	-21.1934	7.221	0.25988	0.0676:0.1243:0.6791:0.1289	.	899;889	Q59HF8;P31327	.;CPSM_HUMAN	N	895;897;889;438	ENSP00000402608:K895N;ENSP00000233072:K889N;ENSP00000406136:K438N	ENSP00000233072:K889N	K	+	3	2	CPS1	211189490	0.968000	0.33430	1.000000	0.80357	0.966000	0.64601	0.457000	0.21875	0.816000	0.34421	-0.140000	0.14226	AAG		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
IKZF2	22807	broad.mit.edu	37	2	213872794	213872794	+	Nonsense_Mutation	SNP	G	G	A	rs146574423		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:213872794G>A	ENST00000434687.1	-	9	1180	c.871C>T	c.(871-873)Cga>Tga	p.R291*	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R146*|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R217*|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.R291*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R219*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R297*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R265*			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	291					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R291*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TAGCTGAATCGCATGAGCTTT	0.383																																					p.R291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C871T	2						.	G	stop/ARG,stop/ARG	0,4406		0,0,2203	42.0	42.0	42.0		793,871	4.9	1.0	2	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	IKZF2	NM_001079526.1,NM_016260.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	265/501,291/527	213872794	1,13005	2203	4300	6503	213581039	SO:0001587	stop_gained	22807	exon8			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.871C>T	2.37:g.213872794G>A	ENSP00000412869:p.Arg291*	Somatic		Capture	Illumina HiSeq	Phase_I	213581039	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900079	0.92035	0.0	1.16E-4	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327	.	.	.	5.83	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5838	11.0683	0.47989	0.0:0.0:0.6917:0.3083	.	.	.	.	X	291;297;291;265;219;217;146	.	ENSP00000342876:R297X	R	-	1	2	IKZF2	213581039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.587000	0.53957	2.750000	0.94351	0.655000	0.94253	CGA		0.383	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
ABCA12	26154	broad.mit.edu	37	2	215917225	215917225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:215917225G>T	ENST00000272895.7	-	5	712	c.493C>A	c.(493-495)Ctt>Att	p.L165I		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	165					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L165I(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAAGCCAAGAATTCGTGCG	0.393																																					p.L165I	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493A	2						.						88.0	84.0	85.0					2																	215917225		2203	4300	6503	215625470	SO:0001583	missense	26154	exon5			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.493C>A	2.37:g.215917225G>T	ENSP00000272895:p.Leu165Ile	Somatic		Capture	Illumina HiSeq	Phase_I	215625470	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745612	0.69418	.	.	ENSG00000144452	ENST00000272895	D	0.89746	-2.56	5.64	5.64	0.86602	.	0.118063	0.38164	N	0.001788	D	0.87865	0.6285	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	D	0.88234	0.2905	10	0.42905	T	0.14	.	15.2163	0.73270	0.0:0.0:1.0:0.0	.	165	Q86UK0	ABCAC_HUMAN	I	165	ENSP00000272895:L165I	ENSP00000272895:L165I	L	-	1	0	ABCA12	215625470	1.000000	0.71417	0.841000	0.33234	0.891000	0.51852	4.372000	0.59530	2.657000	0.90304	0.557000	0.71058	CTT		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
TNS1	7145	broad.mit.edu	37	2	218713110	218713110	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:218713110C>A	ENST00000171887.4	-	17	2207	c.1755G>T	c.(1753-1755)caG>caT	p.Q585H	TNS1_ENST00000419504.1_Missense_Mutation_p.Q585H|TNS1_ENST00000430930.1_Missense_Mutation_p.Q585H|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	585					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.Q585H(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTAAACCCTCCTGTGCAGAGT	0.667																																					p.Q585H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1755T	2						.						37.0	37.0	37.0					2																	218713110		2203	4298	6501	218421355	SO:0001583	missense	7145	exon17			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1755G>T	2.37:g.218713110C>A	ENSP00000171887:p.Gln585His	Somatic		Capture	Illumina HiSeq	Phase_I	218421355	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041730	0.55003	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94576	-2.99;-2.99;-3.0;-3.46	4.57	4.57	0.56435	.	1.186920	0.05930	N	0.635077	D	0.90967	0.7160	L	0.31578	0.945	0.80722	D	1	B;B;B;B;B	0.21821	0.061;0.032;0.02;0.016;0.016	B;B;B;B;B	0.23150	0.044;0.022;0.011;0.007;0.005	T	0.74937	-0.3494	10	0.21014	T	0.42	.	12.6252	0.56626	0.1655:0.8345:0.0:0.0	.	585;639;585;585;585	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	H	585;585;585;710	ENSP00000171887:Q585H;ENSP00000408724:Q585H;ENSP00000406016:Q585H;ENSP00000405460:Q710H	ENSP00000171887:Q585H	Q	-	3	2	TNS1	218421355	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.438000	0.35002	2.370000	0.80446	0.561000	0.74099	CAG		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
VIL1	7429	broad.mit.edu	37	2	219296898	219296898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:219296898G>A	ENST00000248444.5	+	12	1421	c.1333G>A	c.(1333-1335)Gtt>Att	p.V445I	VIL1_ENST00000392114.2_Missense_Mutation_p.V134I	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	445	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.V445I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTCTACGTTTGGCAGGT	0.572																																					p.V445I												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1333A	2						.						63.0	48.0	53.0					2																	219296898		2203	4300	6503	219005142	SO:0001583	missense	7429	exon12			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1333G>A	2.37:g.219296898G>A	ENSP00000248444:p.Val445Ile	Somatic		Capture	Illumina HiSeq	Phase_I	219005142	NM_007127	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	0.704	-0.789587	0.02884	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.56275	0.47;0.47	5.06	2.51	0.30379	Gelsolin domain (1);	0.145729	0.45361	N	0.000371	T	0.13970	0.0338	N	0.00254	-1.765	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.10377	T	0.69	-20.7769	7.6321	0.28245	0.7858:0.1398:0.0744:0.0	.	445	P09327	VILI_HUMAN	I	445;134	ENSP00000248444:V445I;ENSP00000375962:V134I	ENSP00000248444:V445I	V	+	1	0	VIL1	219005142	1.000000	0.71417	0.999000	0.59377	0.201000	0.24016	2.981000	0.49329	0.781000	0.33589	-0.427000	0.05922	GTT		0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
STK36	27148	broad.mit.edu	37	2	219561279	219561279	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	A	A	A	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:219561279A>G	ENST00000295709.3	+	22	2820	c.2541A>G	c.(2539-2541)ggA>ggG	p.G847G	STK36_ENST00000392106.2_Intron|STK36_ENST00000440309.1_Silent_p.G847G|STK36_ENST00000392105.3_Intron	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTAGTTGTGGATTCTATGATG	0.488																																					p.G847G												.	.	0			c.A2541G	2						.						187.0	165.0	173.0					2																	219561279		2203	4300	6503	219269523	SO:0001819	synonymous_variant	27148	exon22			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2541A>G	2.37:g.219561279A>G		None		Capture	Illumina HiSeq	Phase_I	219269523	NM_015690		Silent	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452830	0.26074	.	.	ENSG00000163482	ENST00000431040	.	.	.	5.43	-8.12	0.01078	.	.	.	.	.	T	0.44540	0.1298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49380	-0.8946	4	.	.	.	-14.7809	6.1589	0.20354	0.1265:0.3862:0.3955:0.0918	.	.	.	.	G	41	.	.	D	+	2	0	STK36	219269523	0.006000	0.16342	0.756000	0.31282	0.975000	0.68041	-2.200000	0.01237	-1.678000	0.01454	0.533000	0.62120	GAT		0.488	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2		
CYP27A1	1593	broad.mit.edu	37	2	219647124	219647124	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:219647124C>T	ENST00000258415.4	+	1	646	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	73					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.F73L(1)|p.F73F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TTCAGCTGTTCGTTCAAGGCT	0.632																																					p.F73F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|prostate(1)	c.C219T	2						.						78.0	68.0	71.0					2																	219647124		2203	4300	6503	219355368	SO:0001819	synonymous_variant	1593	exon1			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.219C>T	2.37:g.219647124C>T		Somatic		Capture	Illumina HiSeq	Phase_I	219355368	NM_000784	A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	CCDS2423.1																																																																																				0.632	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
CYP27A1	1593	broad.mit.edu	37	2	219679156	219679156	+	Missense_Mutation	SNP	T	T	G	rs587778783		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:219679156T>G	ENST00000258415.4	+	7	1665	c.1238T>G	c.(1237-1239)gTt>gGt	p.V413G		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	413					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.V413G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GAAATTGAAGTTGATGGCTTC	0.537																																					p.V413G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1238G	2						.						105.0	109.0	108.0					2																	219679156		2203	4300	6503	219387400	SO:0001583	missense	1593	exon7			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1238T>G	2.37:g.219679156T>G	ENSP00000258415:p.Val413Gly	Somatic		Capture	Illumina HiSeq	Phase_I	219387400	NM_000784	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161355	0.78226	.	.	ENSG00000135929	ENST00000258415	T	0.71222	-0.55	5.75	5.75	0.90469	.	0.314684	0.33272	N	0.005097	D	0.85801	0.5781	M	0.88310	2.945	0.36692	D	0.879613	D	0.71674	0.998	D	0.74023	0.982	D	0.90774	0.4674	10	0.87932	D	0	-10.0008	13.7993	0.63190	0.0:0.0:0.0:1.0	.	413	Q02318	CP27A_HUMAN	G	413	ENSP00000258415:V413G	ENSP00000258415:V413G	V	+	2	0	CYP27A1	219387400	0.979000	0.34478	0.120000	0.21714	0.821000	0.46438	7.574000	0.82434	2.176000	0.68965	0.459000	0.35465	GTT		0.537	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
CDK5R2	8941	broad.mit.edu	37	2	219825121	219825121	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:219825121C>T	ENST00000302625.4	+	1	745	c.579C>T	c.(577-579)ttC>ttT	p.F193F	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	193					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)	p.F193F(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCGACTTCGTGTGCCGAC	0.741																																					p.F193F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	2						.						16.0	16.0	16.0					2																	219825121		2197	4294	6491	219533365	SO:0001819	synonymous_variant	8941	exon1			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.579C>T	2.37:g.219825121C>T		Somatic		Capture	Illumina HiSeq	Phase_I	219533365	NM_003936	Q4ZFW6	Silent	SNP	ENST00000302625.4	37	CCDS2427.1																																																																																				0.741	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936	
CCDC108	255101	broad.mit.edu	37	2	219888028	219888028	+	Silent	SNP	C	C	T	rs150338958		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:219888028C>T	ENST00000341552.5	-	16	2804	c.2721G>A	c.(2719-2721)tcG>tcA	p.S907S	CCDC108_ENST00000441968.1_Silent_p.S907S|CCDC108_ENST00000453220.1_Silent_p.S907S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	907	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.S907S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCAGACGCGAGGGGTTGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18087	0.0		0.0	False		,,,				2504	0.001				p.S907S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2721A	2						.	C		0,4406		0,0,2203	39.0	43.0	42.0		2721	-11.2	0.0	2	dbSNP_134	42	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CCDC108	NM_194302.2		0,9,6494	TT,TC,CC		0.1047,0.0,0.0692		907/1926	219888028	9,12997	2203	4300	6503	219596272	SO:0001819	synonymous_variant	255101	exon16			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2721G>A	2.37:g.219888028C>T		Somatic		Capture	Illumina HiSeq	Phase_I	219596272	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
ANKZF1	55139	broad.mit.edu	37	2	220101099	220101099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220101099G>A	ENST00000323348.5	+	14	2287	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.D495N|ANKZF1_ENST00000410034.3_Missense_Mutation_p.D705N	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	705						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.D705N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACTACCTCGACTTCTCTTT	0.562																																					p.D705N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2113A	2						.						111.0	114.0	113.0					2																	220101099		2056	4204	6260	219809343	SO:0001583	missense	55139	exon14			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2113G>A	2.37:g.220101099G>A	ENSP00000321617:p.Asp705Asn	Somatic		Capture	Illumina HiSeq	Phase_I	219809343	NM_001042410	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891721	0.91889	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.95377	-3.69;-3.69;-3.69	5.38	5.38	0.77491	.	0.053322	0.85682	D	0.000000	D	0.96500	0.8858	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.95348	0.8444	10	0.33940	T	0.23	-19.0032	19.3333	0.94303	0.0:0.0:1.0:0.0	.	705	Q9H8Y5	ANKZ1_HUMAN	N	705;495;705	ENSP00000321617:D705N;ENSP00000386815:D495N;ENSP00000386337:D705N	ENSP00000321617:D705N	D	+	1	0	ANKZF1	219809343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.685000	0.74543	2.793000	0.96121	0.655000	0.94253	GAC		0.562	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	
TUBA4A	7277	broad.mit.edu	37	2	220116426	220116426	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220116426C>T	ENST00000248437.4	-	3	409	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000392088.2_Missense_Mutation_p.R64Q	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	79					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R79Q(2)|p.R64Q(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TGGGCCATTTCGGATCTCATC	0.547																																					p.R79Q												.	.	4	Substitution - Missense(4)	ovary(2)|large_intestine(2)	c.G236A	2						.						81.0	74.0	76.0					2																	220116426		2203	4300	6503	219824670	SO:0001583	missense	7277	exon3			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.236G>A	2.37:g.220116426C>T	ENSP00000248437:p.Arg79Gln	Somatic		Capture	Illumina HiSeq	Phase_I	219824670	NM_006000	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349294	0.61183	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000002	T	0.72574	0.3477	M	0.88310	2.945	0.80722	D	1	B	0.34181	0.44	B	0.29267	0.1	T	0.78550	-0.2161	10	0.87932	D	0	.	18.6248	0.91333	0.0:1.0:0.0:0.0	.	79	P68366	TBA4A_HUMAN	Q	79;64;64;102;64;81	ENSP00000248437:R79Q;ENSP00000375938:R64Q;ENSP00000408194:R64Q;ENSP00000416992:R102Q;ENSP00000396061:R64Q;ENSP00000404740:R81Q	ENSP00000248437:R79Q	R	-	2	0	TUBA4A	219824670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.564000	0.82326	2.639000	0.89480	0.655000	0.94253	CGA		0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000	
PTPRN	5798	broad.mit.edu	37	2	220172563	220172563	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220172563G>A	ENST00000295718.2	-	2	357	c.117C>T	c.(115-117)ggC>ggT	p.G39G	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Splice_Site_p.G39G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	39					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G39G(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAAATAGACAGCCTGTAGAGG	0.537																																					p.G39G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	2						.						84.0	92.0	89.0					2																	220172563		2203	4300	6503	219880807	SO:0001630	splice_region_variant	5798	exon2				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.116-1C>T	2.37:g.220172563G>A		Somatic		Capture	Illumina HiSeq	Phase_I	219880807	NM_001199763	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1																																																																																				0.537	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		Silent
SPEG	10290	broad.mit.edu	37	2	220315881	220315881	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220315881T>C	ENST00000312358.7	+	5	2269	c.2137T>C	c.(2137-2139)Tcc>Ccc	p.S713P	SPEG_ENST00000396698.1_Missense_Mutation_p.S609P|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	713					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V712_P722del(1)|p.S713P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTACGTGTCCGCTGGAGA	0.592																																					p.S713P												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	ovary(1)|large_intestine(1)	c.T2137C	2						.						106.0	107.0	107.0					2																	220315881		1958	4141	6099	220024125	SO:0001583	missense	10290	exon5			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2137T>C	2.37:g.220315881T>C	ENSP00000311684:p.Ser713Pro	Somatic		Capture	Illumina HiSeq	Phase_I	220024125	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490533	0.84962	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.67171	-0.25;0.05	5.43	5.43	0.79202	.	0.000000	0.40728	N	0.001030	T	0.71846	0.3388	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.75869	-0.3165	10	0.66056	D	0.02	.	15.1388	0.72595	0.0:0.0:0.0:1.0	.	713	Q15772	SPEG_HUMAN	P	713;713;609	ENSP00000311684:S713P;ENSP00000379926:S609P	ENSP00000265327:S713P	S	+	1	0	SPEG	220024125	1.000000	0.71417	0.989000	0.46669	0.802000	0.45316	7.662000	0.83803	2.067000	0.61834	0.533000	0.62120	TCC		0.592	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
SPEG	10290	broad.mit.edu	37	2	220342058	220342058	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220342058C>T	ENST00000312358.7	+	20	4752	c.4620C>T	c.(4618-4620)tgC>tgT	p.C1540C	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1540	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C1540C(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGAATGAGTGCTCCCTGGTGG	0.637																																					p.C1540C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4620T	2						.						48.0	53.0	51.0					2																	220342058		2112	4222	6334	220050302	SO:0001819	synonymous_variant	10290	exon20			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4620C>T	2.37:g.220342058C>T		Somatic		Capture	Illumina HiSeq	Phase_I	220050302	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.637	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
OBSL1	23363	broad.mit.edu	37	2	220427276	220427276	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220427276T>C	ENST00000404537.1	-	8	2857	c.2801A>G	c.(2800-2802)gAt>gGt	p.D934G	OBSL1_ENST00000373873.4_Missense_Mutation_p.D934G|OBSL1_ENST00000373876.1_Missense_Mutation_p.D934G|OBSL1_ENST00000265318.4_Missense_Mutation_p.D934G|OBSL1_ENST00000289656.3_Missense_Mutation_p.D521G|OBSL1_ENST00000603926.1_Missense_Mutation_p.D934G|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	934	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.D934G(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCCTCTCCATCCTTGGTCCA	0.672																																					p.D934G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2801G	2						.						50.0	60.0	56.0					2																	220427276		2203	4298	6501	220135520	SO:0001583	missense	23363	exon8			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2801A>G	2.37:g.220427276T>C	ENSP00000385636:p.Asp934Gly	Somatic		Capture	Illumina HiSeq	Phase_I	220135520	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.919141	0.92249	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25754	0.0627	M	0.83223	2.63	0.80722	D	1	D;P;D;D	0.89917	0.978;0.956;1.0;0.999	D;P;D;D	0.79108	0.968;0.893;0.991;0.992	T	0.03981	-1.0987	9	0.29301	T	0.29	.	14.5093	0.67774	0.0:0.0:0.0:1.0	.	935;934;521;934	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	G	934;934;934;934;521	ENSP00000265318:D934G;ENSP00000385636:D934G;ENSP00000362983:D934G;ENSP00000362980:D934G;ENSP00000289656:D521G	ENSP00000265318:D934G	D	-	2	0	OBSL1	220135520	1.000000	0.71417	0.943000	0.38184	0.960000	0.62799	5.767000	0.68850	1.898000	0.54952	0.533000	0.62120	GAT		0.672	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
OBSL1	23363	broad.mit.edu	37	2	220431646	220431646	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:220431646T>C	ENST00000404537.1	-	5	2096	c.2040A>G	c.(2038-2040)agA>agG	p.R680R	OBSL1_ENST00000373873.4_Silent_p.R680R|OBSL1_ENST00000373876.1_Silent_p.R680R|OBSL1_ENST00000265318.4_Silent_p.R680R|OBSL1_ENST00000289656.3_Silent_p.R267R|OBSL1_ENST00000603926.1_Silent_p.R680R	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	680					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.R680R(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGGATGAGTCTGTGCTGCA	0.617																																					p.R680R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2040G	2						.						47.0	53.0	51.0					2																	220431646		2056	4195	6251	220139890	SO:0001819	synonymous_variant	23363	exon5			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2040A>G	2.37:g.220431646T>C		Somatic		Capture	Illumina HiSeq	Phase_I	220139890	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																				0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
FARSB	10056	broad.mit.edu	37	2	223504350	223504350	+	Missense_Mutation	SNP	C	C	T	rs368004031		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:223504350C>T	ENST00000281828.6	-	5	667	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	FARSB_ENST00000536361.1_Missense_Mutation_p.R36Q	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	135					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.R135Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCTGTCATATCGATCTTTAGT	0.373																																					p.R135Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404A	2						.						133.0	129.0	130.0					2																	223504350		2203	4300	6503	223212594	SO:0001583	missense	10056	exon5			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.404G>A	2.37:g.223504350C>T	ENSP00000281828:p.Arg135Gln	Somatic		Capture	Illumina HiSeq	Phase_I	223212594	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694999	0.88830	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.27890	1.64;1.64	6.17	6.17	0.99709	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	M	0.79011	2.435	0.80722	D	1	D;P	0.53312	0.959;0.589	B;B	0.37650	0.255;0.079	T	0.33266	-0.9875	10	0.17832	T	0.49	-9.1453	20.8794	0.99867	0.0:1.0:0.0:0.0	.	135;135	A8K666;Q9NSD9	.;SYFB_HUMAN	Q	135;36	ENSP00000281828:R135Q;ENSP00000442950:R36Q	ENSP00000281828:R135Q	R	-	2	0	FARSB	223212594	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	5.653000	0.67967	2.941000	0.99782	0.655000	0.94253	CGA		0.373	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
FARSB	10056	broad.mit.edu	37	2	223513462	223513462	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:223513462T>G	ENST00000281828.6	-	2	374	c.111A>C	c.(109-111)gaA>gaC	p.E37D	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	37					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.E37D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TACATACAATTTCATCAAGCT	0.299																																					p.E37D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A111C	2						.						116.0	119.0	118.0					2																	223513462		2203	4300	6503	223221706	SO:0001583	missense	10056	exon2			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.111A>C	2.37:g.223513462T>G	ENSP00000281828:p.Glu37Asp	Somatic		Capture	Illumina HiSeq	Phase_I	223221706	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782019	0.49891	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.48	5.48	0.80851	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.49350	1.555	0.80722	D	1	B;B	0.15141	0.004;0.012	B;B	0.17433	0.008;0.018	T	0.48937	-0.8990	9	0.19147	T	0.46	-22.5952	10.7434	0.46166	0.0:0.0736:0.0:0.9264	.	37;37	A8K666;Q9NSD9	.;SYFB_HUMAN	D	37	.	ENSP00000281828:E37D	E	-	3	2	FARSB	223221706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.363000	0.52321	2.084000	0.62774	0.533000	0.62120	GAA		0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
ACSL3	2181	broad.mit.edu	37	2	223773651	223773651	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:223773651G>A	ENST00000357430.3	+	4	692	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.R54Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	54					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R54Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAATCAAACCGAATTAAAGCA	0.294			T	ETV1	prostate																																p.R54Q			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	2						.						93.0	100.0	98.0					2																	223773651		2203	4298	6501	223481895	SO:0001583	missense	2181	exon4			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.161G>A	2.37:g.223773651G>A	ENSP00000350012:p.Arg54Gln	Somatic		Capture	Illumina HiSeq	Phase_I	223481895	NM_004457	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557473	0.27827	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.36699	1.24;1.24	5.22	1.56	0.23342	.	1.345440	0.04737	N	0.422114	T	0.25975	0.0633	N	0.20357	0.565	0.23095	N	0.998303	B	0.09022	0.002	B	0.11329	0.006	T	0.25676	-1.0125	10	0.27785	T	0.31	-0.0277	9.0625	0.36442	0.7894:0.0:0.2106:0.0	.	54	O95573	ACSL3_HUMAN	Q	54	ENSP00000350012:R54Q;ENSP00000375918:R54Q	ENSP00000350012:R54Q	R	+	2	0	ACSL3	223481895	0.737000	0.28175	0.653000	0.29593	0.934000	0.57294	1.690000	0.37711	0.119000	0.18210	-0.238000	0.12139	CGA		0.294	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
MRPL44	65080	broad.mit.edu	37	2	224824473	224824473	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:224824473G>T	ENST00000258383.3	+	2	471	c.402G>T	c.(400-402)caG>caT	p.Q134H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	134	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.Q134H(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTTTTCACAGACTTGCCTTA	0.428																																					p.Q134H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	2						.						77.0	82.0	80.0					2																	224824473		2203	4300	6503	224532717	SO:0001583	missense	65080	exon2			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.402G>T	2.37:g.224824473G>T	ENSP00000258383:p.Gln134His	Somatic		Capture	Illumina HiSeq	Phase_I	224532717	NM_022915	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	5.293	0.239370	0.10023	.	.	ENSG00000135900	ENST00000258383	T	0.44083	0.93	5.7	-4.92	0.03075	Ribonuclease III (3);	0.960947	0.08715	N	0.904441	T	0.18087	0.0434	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18587	-1.0332	10	0.30078	T	0.28	-0.8177	3.6021	0.08028	0.1696:0.1187:0.4671:0.2446	.	134	Q9H9J2	RM44_HUMAN	H	134	ENSP00000258383:Q134H	ENSP00000258383:Q134H	Q	+	3	2	MRPL44	224532717	0.000000	0.05858	0.186000	0.23195	0.480000	0.33159	-0.725000	0.04942	-0.462000	0.06984	-0.355000	0.07637	CAG		0.428	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	
DOCK10	55619	broad.mit.edu	37	2	225652044	225652044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:225652044G>A	ENST00000258390.7	-	49	5556	c.5489C>T	c.(5488-5490)gCt>gTt	p.A1830V	DOCK10_ENST00000409592.3_Missense_Mutation_p.A1824V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1830	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1828V(2)|p.A335V(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTTGACATCAGCAATGAGTTC	0.388																																					p.A1830V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C5489T	2						.						171.0	167.0	169.0					2																	225652044		1960	4170	6130	225360288	SO:0001583	missense	55619	exon49			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5489C>T	2.37:g.225652044G>A	ENSP00000258390:p.Ala1830Val	Somatic		Capture	Illumina HiSeq	Phase_I	225360288	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517167	0.96416	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.19250	2.16;2.16	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.55834	1.745	0.58432	D	0.999999	P;D;P;P	0.89917	0.774;1.0;0.949;0.894	P;D;P;P	0.76575	0.626;0.988;0.771;0.459	T	0.18335	-1.0340	10	0.66056	D	0.02	.	19.1076	0.93303	0.0:0.0:1.0:0.0	.	1830;651;1824;492	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	V	1824;1830;335	ENSP00000386694:A1824V;ENSP00000258390:A1830V	ENSP00000258390:A1830V	A	-	2	0	DOCK10	225360288	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.759000	0.94783	0.650000	0.86243	GCT		0.388	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
NYAP2	57624	broad.mit.edu	37	2	226447306	226447306	+	Silent	SNP	G	G	A	rs9917362	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:226447306G>A	ENST00000272907.6	+	4	1586	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	391	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.A391A(1)									CCGGCCATGCGAAACTGGAGA	0.667													G|||	224	0.0447284	0.1619	0.0144	5008	,	,		11451	0.0		0.0	False		,,,				2504	0.0				p.A391A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1173A	2						.	G		411,3531		16,379,1576	17.0	21.0	20.0		1173	-6.4	0.0	2	dbSNP_119	20	7,8255		0,7,4124	no	coding-synonymous	KIAA1486	NM_020864.1		16,386,5700	AA,AG,GG		0.0847,10.4262,3.4251		391/654	226447306	418,11786	1971	4131	6102	226155550	SO:0001819	synonymous_variant	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1173G>A	2.37:g.226447306G>A		Somatic		Capture	Illumina HiSeq	Phase_I	226155550	NM_020864	A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	CCDS46529.1																																																																																				0.667	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
COL4A3	1285	broad.mit.edu	37	2	228173939	228173939	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:228173939C>T	ENST00000396578.3	+	50	4822	c.4660C>T	c.(4660-4662)Cct>Tct	p.P1554S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1554	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.P1554S(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTGTGAAGGTCCTGCGATCGC	0.473																																					p.P1554S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4660T	2						.						83.0	87.0	85.0					2																	228173939		2037	4178	6215	227882183	SO:0001583	missense	1285	exon50				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4660C>T	2.37:g.228173939C>T	ENSP00000379823:p.Pro1554Ser	Somatic		Capture	Illumina HiSeq	Phase_I	227882183	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033388	0.54896	.	.	ENSG00000169031	ENST00000396578;ENST00000328380	D	0.91521	-2.86	5.97	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.89615	0.6766	M	0.70787	2.145	0.48632	D	0.999683	B;P	0.35033	0.402;0.481	B;B	0.37480	0.081;0.251	D	0.88773	0.3265	10	0.52906	T	0.07	.	11.6171	0.51096	0.0:0.8067:0.1257:0.0676	.	1554;1554	Q01955-2;Q01955	.;CO4A3_HUMAN	S	1554	ENSP00000379823:P1554S	ENSP00000327594:P1554S	P	+	1	0	COL4A3	227882183	0.947000	0.32204	0.994000	0.49952	0.708000	0.40852	1.028000	0.30128	2.836000	0.97738	0.655000	0.94253	CCT		0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	
SLC19A3	80704	broad.mit.edu	37	2	228564158	228564158	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:228564158G>T	ENST00000258403.3	-	3	344	c.273C>A	c.(271-273)atC>atA	p.I91I	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.I87I	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	91					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.I91I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGGTAATGATGAAACTGA	0.517																																					p.I91I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273A	2						.						157.0	155.0	155.0					2																	228564158		2203	4300	6503	228272402	SO:0001819	synonymous_variant	80704	exon3			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.273C>A	2.37:g.228564158G>T		Somatic		Capture	Illumina HiSeq	Phase_I	228272402	NM_025243		Silent	SNP	ENST00000258403.3	37	CCDS2468.1																																																																																				0.517	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1		
DNER	92737	broad.mit.edu	37	2	230223336	230223336	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:230223336C>A	ENST00000341772.4	-	13	2268	c.2134G>T	c.(2134-2136)Gat>Tat	p.D712Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	712					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.D712Y(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGGCTCACATCATACATTGCA	0.363																																					p.D712Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2134T	2						.						85.0	87.0	86.0					2																	230223336		2203	4300	6503	229931580	SO:0001583	missense	92737	exon13			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2134G>T	2.37:g.230223336C>A	ENSP00000345229:p.Asp712Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	229931580	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975001	0.74360	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86627	-2.15	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.89795	0.6818	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90761	0.4665	10	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	712	Q8NFT8	DNER_HUMAN	Y	712;430	ENSP00000345229:D712Y	ENSP00000345229:D712Y	D	-	1	0	DNER	229931580	1.000000	0.71417	0.428000	0.26697	0.806000	0.45545	7.027000	0.76463	2.878000	0.98634	0.650000	0.86243	GAT		0.363	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
DNER	92737	broad.mit.edu	37	2	230253102	230253102	+	Silent	SNP	G	G	A	rs376723054		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:230253102G>A	ENST00000341772.4	-	11	1868	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	578	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.C578C(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTCAATGTCGCACTCTTCAC	0.502																																					p.C578C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1734T	2						.	G		0,4406		0,0,2203	129.0	125.0	126.0		1734	-5.1	0.8	2		126	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DNER	NM_139072.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		578/738	230253102	2,13004	2203	4300	6503	229961346	SO:0001819	synonymous_variant	92737	exon11			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1734C>T	2.37:g.230253102G>A		Somatic		Capture	Illumina HiSeq	Phase_I	229961346	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	CCDS33390.1																																																																																				0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
TRIP12	9320	broad.mit.edu	37	2	230661336	230661336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:230661336G>A	ENST00000283943.5	-	24	3740	c.3562C>T	c.(3562-3564)Cga>Tga	p.R1188*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R1236*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R918*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1188					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.R1188*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGAAGAAATCGCTTTAATCTG	0.333																																					p.R1188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3562T	2						.						110.0	112.0	111.0					2																	230661336		2203	4300	6503	230369580	SO:0001587	stop_gained	9320	exon24			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3562C>T	2.37:g.230661336G>A	ENSP00000283943:p.Arg1188*	Somatic		Capture	Illumina HiSeq	Phase_I	230369580	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	45	11.440252	0.99561	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.73	1.53	0.23141	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	17.1756	0.86841	0.0:0.0:0.664:0.336	.	.	.	.	X	1188;918;1236	.	ENSP00000283943:R1188X	R	-	1	2	TRIP12	230369580	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	0.322000	0.19576	0.030000	0.15379	-0.256000	0.11100	CGA		0.333	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SLC16A14	151473	broad.mit.edu	37	2	230911155	230911155	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:230911155C>A	ENST00000295190.4	-	4	1145	c.687G>T	c.(685-687)ctG>ctT	p.L229L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L229L(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGTGCGCTGGCAGGCCACGCA	0.572																																					p.L229L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G687T	2						.						73.0	79.0	77.0					2																	230911155		2203	4300	6503	230619399	SO:0001819	synonymous_variant	151473	exon4			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.687G>T	2.37:g.230911155C>A		Somatic		Capture	Illumina HiSeq	Phase_I	230619399	NM_152527	A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	CCDS2473.1																																																																																				0.572	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527	
SP100	6672	broad.mit.edu	37	2	231328848	231328848	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:231328848G>A	ENST00000264052.5	+	11	1479	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	SP100_ENST00000409112.1_Missense_Mutation_p.R375Q|SP100_ENST00000409897.1_Missense_Mutation_p.R340Q|SP100_ENST00000427101.2_Missense_Mutation_p.R350Q|SP100_ENST00000340126.4_Missense_Mutation_p.R375Q|SP100_ENST00000341950.4_Missense_Mutation_p.R375Q|SP100_ENST00000409824.1_Missense_Mutation_p.R350Q|SP100_ENST00000409341.1_Missense_Mutation_p.R375Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	375	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R375Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTTGCTCACGACCCCAGATT	0.398																																					p.R375Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1124A	2						.						71.0	68.0	69.0					2																	231328848		2203	4300	6503	231037092	SO:0001583	missense	6672	exon11			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1124G>A	2.37:g.231328848G>A	ENSP00000264052:p.Arg375Gln	Somatic		Capture	Illumina HiSeq	Phase_I	231037092	NM_001080391	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	9.143	1.014236	0.19277	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897;ENST00000452345	T;T;T;T;T;T;T;T;T	0.81163	2.27;2.17;2.17;2.15;-1.46;0.19;2.2;2.16;0.66	3.38	-4.93	0.03066	.	.	.	.	.	T	0.59878	0.2226	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;P	0.42649	0.128;0.079;0.128;0.291;0.079;0.079;0.786	B;B;B;B;B;B;B	0.27608	0.003;0.005;0.003;0.015;0.001;0.001;0.081	T	0.53265	-0.8463	9	0.20519	T	0.43	.	5.6214	0.17459	0.5082:0.277:0.2148:0.0	.	350;340;375;375;375;350;375	F8WFE2;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;SP100_HUMAN;.;.;.	Q	375;350;350;375;375;375;375;340;40	ENSP00000264052:R375Q;ENSP00000399389:R350Q;ENSP00000387311:R350Q;ENSP00000386404:R375Q;ENSP00000386427:R375Q;ENSP00000343023:R375Q;ENSP00000342729:R375Q;ENSP00000386998:R340Q;ENSP00000416563:R40Q	ENSP00000264052:R375Q	R	+	2	0	SP100	231037092	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.038000	0.03553	-1.321000	0.02281	-0.140000	0.14226	CGA		0.398	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	
NCL	4691	broad.mit.edu	37	2	232320768	232320768	+	Silent	SNP	G	G	A	rs139786193		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:232320768G>A	ENST00000322723.4	-	12	2025	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	595	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.S595S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTGCCCGAACGGAGCCGTCAA	0.478																																					p.S595S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1785T	2						.	G		0,4406		0,0,2203	86.0	81.0	83.0		1785	0.4	0.2	2	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NCL	NM_005381.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		595/711	232320768	1,13005	2203	4300	6503	232029012	SO:0001819	synonymous_variant	4691	exon12				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1785C>T	2.37:g.232320768G>A		Somatic		Capture	Illumina HiSeq	Phase_I	232029012	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.478	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
CHRND	1144	broad.mit.edu	37	2	233398974	233398974	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:233398974C>A	ENST00000258385.3	+	11	1325	c.1293C>A	c.(1291-1293)ctC>ctA	p.L431L	CHRND_ENST00000543200.1_Silent_p.L416L|CHRND_ENST00000457943.2_Silent_p.L237L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	431					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.L431L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	AGCAGGAACTCTTCAATGAGC	0.577																																					p.L431L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1293A	2						.						67.0	69.0	69.0					2																	233398974		2203	4300	6503	233107218	SO:0001819	synonymous_variant	1144	exon11			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1293C>A	2.37:g.233398974C>A		Somatic		Capture	Illumina HiSeq	Phase_I	233107218	NM_000751	A8K661|B4DT92|Q52LH4	Silent	SNP	ENST00000258385.3	37	CCDS2494.1																																																																																				0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
USP40	55230	broad.mit.edu	37	2	234407199	234407199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:234407199C>A	ENST00000427112.2	-	22	2742	c.2707G>T	c.(2707-2709)Gaa>Taa	p.E903*	USP40_ENST00000409945.1_Nonsense_Mutation_p.E79*|USP40_ENST00000251722.6_Nonsense_Mutation_p.E903*|USP40_ENST00000450966.1_Nonsense_Mutation_p.E915*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	903					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E915*(1)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTACTTCTTCACATAAAGGC	0.333																																					p.V834V												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2502T	2						.						72.0	67.0	68.0					2																	234407199		1859	4092	5951	234071938	SO:0001587	stop_gained	55230	exon21			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2707G>T	2.37:g.234407199C>A	ENSP00000387898:p.Glu903*	Somatic		Capture	Illumina HiSeq	Phase_I	234071938	NM_018218	Q6NX38|Q70EL0	Nonsense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302311	0.98750	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.	.	.	5.25	4.38	0.52667	.	0.422936	0.29106	N	0.013130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.8406	0.29395	0.0:0.7506:0.1621:0.0873	.	.	.	.	X	915;903;903;79	.	ENSP00000251722:E903X	E	-	1	0	USP40	234071938	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	3.253000	0.51469	1.350000	0.45770	0.555000	0.69702	GAA		0.333	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
USP40	55230	broad.mit.edu	37	2	234428278	234428278	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:234428278T>G	ENST00000427112.2	-	17	2397	c.2362A>C	c.(2362-2364)Aaa>Caa	p.K788Q	USP40_ENST00000251722.6_Missense_Mutation_p.K788Q|USP40_ENST00000450966.1_Missense_Mutation_p.K800Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	788					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K800Q(1)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCATTAATTTTAATTCCTTT	0.274																																					p.X719Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2157C	2						.						36.0	32.0	33.0					2																	234428278		1702	3853	5555	234093017	SO:0001583	missense	55230	exon16			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2362A>C	2.37:g.234428278T>G	ENSP00000387898:p.Lys788Gln	Somatic		Capture	Illumina HiSeq	Phase_I	234093017	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278522	0.23307	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.95	3.44	0.39384	.	2.193870	0.01272	N	0.009492	T	0.34629	0.0904	L	0.36672	1.1	0.24946	N	0.991825	B;B	0.13145	0.004;0.007	B;B	0.15052	0.005;0.012	T	0.18840	-1.0324	10	0.27785	T	0.31	.	5.1179	0.14845	0.0:0.0969:0.2944:0.6087	.	788;800	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	Q	800;788;788;83	ENSP00000415434:K800Q;ENSP00000251722:K788Q;ENSP00000387898:K788Q;ENSP00000408853:K83Q	ENSP00000251722:K788Q	K	-	1	0	USP40	234093017	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.954000	0.29175	2.272000	0.75746	0.460000	0.39030	AAA		0.274	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
UGT1A9	54600	broad.mit.edu	37	2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:234581022G>A	ENST00000354728.4	+	1	524	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.D148N|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	148					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.D148N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AGTGTTTCTCGATCCTTTTGA	0.373																																					p.D148N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	2						.						142.0	140.0	141.0					2																	234581022		2203	4300	6503	234245761	SO:0001583	missense	54600	exon1			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.442G>A	2.37:g.234581022G>A	ENSP00000346768:p.Asp148Asn	Somatic		Capture	Illumina HiSeq	Phase_I	234245761	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397022	0.62177	.	.	ENSG00000241119	ENST00000354728	T	0.71698	-0.59	3.41	3.41	0.39046	.	.	.	.	.	D	0.85444	0.5698	M	0.93978	3.48	0.43947	D	0.996612	D;D	0.65815	0.995;0.995	P;P	0.58721	0.844;0.844	D	0.90248	0.4291	9	0.72032	D	0.01	.	15.414	0.74948	0.0:0.0:1.0:0.0	.	148;148	Q5DSZ5;O60656	.;UD19_HUMAN	N	148	ENSP00000346768:D148N	ENSP00000346768:D148N	D	+	1	0	UGT1A9	234245761	1.000000	0.71417	0.985000	0.45067	0.185000	0.23345	7.530000	0.81962	1.907000	0.55213	0.440000	0.28878	GAT		0.373	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
UGT1A3	54659	broad.mit.edu	37	2	234637988	234637988	+	Missense_Mutation	SNP	G	G	T	rs368262266		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:234637988G>T	ENST00000482026.1	+	1	235	c.216G>T	c.(214-216)gaG>gaT	p.E72D	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.E72D|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	72					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.E72D(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TCAAAGAAGAGAACTTTTTCA	0.527																																					p.E72D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G216T	2						.	G	,,,,,,ASP/GLU,,	0,4406		0,0,2203	105.0	106.0	106.0		,,,,,,216,,	-2.6	0.2	2		106	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,45,,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,,,,,,,,	,,,,,,72/535,,	234637988	1,13005	2203	4300	6503	234302727	SO:0001583	missense	54659	exon1			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.216G>T	2.37:g.234637988G>T	ENSP00000418532:p.Glu72Asp	Somatic		Capture	Illumina HiSeq	Phase_I	234302727	NM_019093	B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	G	4.338	0.062063	0.08339	0.0	1.16E-4	ENSG00000243135	ENST00000482026	T	0.61392	0.11	4.31	-2.57	0.06248	.	.	.	.	.	T	0.33059	0.0850	N	0.16166	0.38	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20384	0.029;0.029	T	0.25537	-1.0129	9	0.54805	T	0.06	.	2.3105	0.04185	0.2842:0.1829:0.4194:0.1135	.	72;72	Q5DT01;P35503	.;UD13_HUMAN	D	72	ENSP00000418532:E72D	ENSP00000418532:E72D	E	+	3	2	UGT1A3	234302727	0.000000	0.05858	0.157000	0.22605	0.063000	0.16089	-3.345000	0.00504	-0.044000	0.13491	-0.244000	0.11960	GAG		0.527	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
AGAP1	116987	broad.mit.edu	37	2	236706501	236706501	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:236706501G>A	ENST00000304032.8	+	7	1352	c.772G>A	c.(772-774)Gcg>Acg	p.A258T	AGAP1_ENST00000409538.1_Missense_Mutation_p.A523T|AGAP1_ENST00000428334.2_Missense_Mutation_p.A97T|AGAP1_ENST00000336665.5_Missense_Mutation_p.A258T|AGAP1_ENST00000409457.1_Missense_Mutation_p.A258T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	258	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.A258T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGTCTGTTCCGCGCAGGTGTC	0.507																																					p.A258T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G772A	2						.						182.0	177.0	179.0					2																	236706501		2203	4300	6503	236371240	SO:0001583	missense	116987	exon7			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.772G>A	2.37:g.236706501G>A	ENSP00000307634:p.Ala258Thr	Somatic		Capture	Illumina HiSeq	Phase_I	236371240	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	8.933	0.964038	0.18583	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.29	5.29	0.74685	.	0.125962	0.53938	D	0.000043	T	0.23492	0.0568	L	0.41710	1.295	0.38116	D	0.937725	B;B	0.14805	0.003;0.011	B;B	0.08055	0.003;0.003	T	0.09885	-1.0654	10	0.12430	T	0.62	.	12.3273	0.55018	0.077:0.0:0.923:0.0	.	258;258	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	T	258;258;258;523;97	ENSP00000387174:A258T;ENSP00000307634:A258T;ENSP00000338378:A258T;ENSP00000386897:A523T;ENSP00000411824:A97T	ENSP00000307634:A258T	A	+	1	0	AGAP1	236371240	1.000000	0.71417	0.094000	0.20943	0.350000	0.29205	4.262000	0.58847	2.478000	0.83669	0.650000	0.86243	GCG		0.507	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
COL6A3	1293	broad.mit.edu	37	2	238249185	238249185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:238249185C>T	ENST00000295550.4	-	38	8826	c.8374G>A	c.(8374-8376)Gac>Aac	p.D2792N	COL6A3_ENST00000409809.1_Missense_Mutation_p.D2586N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D2586N|COL6A3_ENST00000347401.3_Missense_Mutation_p.D2591N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D2592N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D2185N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2792	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D2792N(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGAAGACGTCGTTTGGCTCA	0.537																																					p.D2185N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6553A	2						.						112.0	98.0	103.0					2																	238249185		2203	4300	6503	237913924	SO:0001583	missense	1293	exon35			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8374G>A	2.37:g.238249185C>T	ENSP00000295550:p.Asp2792Asn	Somatic		Capture	Illumina HiSeq	Phase_I	237913924	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487559	0.26686	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.65	5.65	0.86999	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000029	T	0.41213	0.1149	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.948;0.914;0.999	T	0.05937	-1.0855	10	0.49607	T	0.09	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	2185;2586;2792	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2792;2591;2586;2185;2586;2592	ENSP00000295550:D2792N;ENSP00000315609:D2591N;ENSP00000315873:D2586N;ENSP00000418285:D2185N;ENSP00000386844:D2586N;ENSP00000295546:D2592N	ENSP00000295550:D2792N	D	-	1	0	COL6A3	237913924	1.000000	0.71417	0.246000	0.24233	0.095000	0.18619	4.496000	0.60360	2.824000	0.97209	0.655000	0.94253	GAC		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238283403	238283403	+	Missense_Mutation	SNP	C	C	T	rs151021451		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:238283403C>T	ENST00000295550.4	-	8	3783	c.3331G>A	c.(3331-3333)Gcc>Acc	p.A1111T	COL6A3_ENST00000392004.3_Missense_Mutation_p.A905T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A905T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A905T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A704T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A910T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A911T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A504T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1111	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A1111T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACTCCAGGGCGGCCCCGGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20173	0.0		0.0	False		,,,				2504	0.001				p.A504T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1510A	2						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	3,4403	6.2+/-15.9	0,3,2200	44.0	48.0	46.0		3331,2110,2713,1510,2713	4.4	0.8	2	dbSNP_134	46	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	58,58,58,58,58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1111/3178,704/1037,905/1238,504/2571,905/2972	238283403	3,13003	2203	4300	6503	237948142	SO:0001583	missense	1293	exon5			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3331G>A	2.37:g.238283403C>T	ENSP00000295550:p.Ala1111Thr	Somatic		Capture	Illumina HiSeq	Phase_I	237948142	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228830	0.79576	6.81E-4	0.0	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.33	4.45	0.53987	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000046	D	0.97056	0.9038	H	0.97587	4.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.99;0.999;0.973	D	0.98283	1.0509	10	0.62326	D	0.03	.	15.7156	0.77667	0.1378:0.8621:0.0:0.0	.	504;704;905;905;1111	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	T	1111;910;905;504;905;911;905;704	ENSP00000295550:A1111T;ENSP00000315609:A910T;ENSP00000315873:A905T;ENSP00000418285:A504T;ENSP00000386844:A905T;ENSP00000295546:A911T;ENSP00000375861:A905T;ENSP00000375860:A704T	ENSP00000295550:A1111T	A	-	1	0	COL6A3	237948142	1.000000	0.71417	0.846000	0.33378	0.374000	0.29953	4.749000	0.62155	1.368000	0.46115	0.655000	0.94253	GCC		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
ATAD2B	54454	broad.mit.edu	37	2	23985123	23985123	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:23985123C>A	ENST00000238789.5	-	24	3693	c.3350G>T	c.(3349-3351)aGa>aTa	p.R1117I	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1117						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R1117I(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGGATTTCTTTGTTTGTG	0.403																																					p.R1117I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3350T	2						.						230.0	198.0	208.0					2																	23985123		1918	4146	6064	23838627	SO:0001583	missense	54454	exon24			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3350G>T	2.37:g.23985123C>A	ENSP00000238789:p.Arg1117Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23838627	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.61|15.61	2.884290|2.884290	0.51908|0.51908	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91894	.|-2.93	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|1.597900	.|0.03164	.|N	.|0.169680	.|D	.|0.86497	.|0.5947	N|N	0.14661|0.14661	0.345|0.345	0.48185|0.48185	D|D	0.999602|0.999602	.|P;P	.|0.37233	.|0.453;0.588	.|B;B	.|0.35073	.|0.095;0.195	.|T	.|0.72626	.|-0.4236	.|10	.|0.38643	.|T	.|0.18	.|.	10.4182|10.4182	0.44335|0.44335	0.0:0.879:0.0:0.121|0.0:0.879:0.0:0.121	.|.	.|1117;1112	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	X|I	393|1117;285	.|ENSP00000238789:R1117I	.|ENSP00000238789:R1117I	E|R	-|-	1|2	0|0	ATAD2B|ATAD2B	23838627|23838627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.889000|2.889000	0.48601|0.48601	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
UBXN2A	165324	broad.mit.edu	37	2	24222589	24222589	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:24222589G>T	ENST00000309033.4	+	7	876	c.632G>T	c.(631-633)aGa>aTa	p.R211I	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.R158I|UBXN2A_ENST00000404924.1_Missense_Mutation_p.R211I|RN7SL610P_ENST00000463845.2_RNA	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	211	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)		p.R211I(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GGATCTCAAAGAAGTCCTCCG	0.368																																					p.R211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G632T	2						.						78.0	82.0	81.0					2																	24222589		2203	4300	6503	24076093	SO:0001583	missense	165324	exon7			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.632G>T	2.37:g.24222589G>T	ENSP00000312107:p.Arg211Ile	Somatic		Capture	Illumina HiSeq	Phase_I	24076093	NM_181713	A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386048	0.25031	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.42131	0.98;0.98;0.98	4.99	3.12	0.35913	UBX (3);	0.311718	0.43260	D	0.000588	T	0.29914	0.0748	N	0.21194	0.64	0.20489	N	0.999897	B;B	0.31503	0.183;0.326	B;B	0.32022	0.026;0.139	T	0.17379	-1.0371	10	0.46703	T	0.11	-20.8912	13.2052	0.59790	0.0:0.3064:0.6936:0.0	.	158;211	B7ZKP8;P68543	.;UBX2A_HUMAN	I	211;211;158	ENSP00000385525:R211I;ENSP00000312107:R211I;ENSP00000440533:R158I	ENSP00000312107:R211I	R	+	2	0	UBXN2A	24076093	0.987000	0.35691	0.150000	0.22450	0.448000	0.32197	2.569000	0.45973	0.724000	0.32296	-0.305000	0.09177	AGA		0.368	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713	
COL6A3	1293	broad.mit.edu	37	2	238303389	238303389	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:238303389C>T	ENST00000295550.4	-	3	1002	c.550G>A	c.(550-552)Gcg>Acg	p.A184T	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.A184T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A184T|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	184	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A184T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTTTTAACGCTCCTTCATCT	0.433																																					p.A184T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550A	2						.						123.0	120.0	121.0					2																	238303389		2203	4300	6503	237968128	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.550G>A	2.37:g.238303389C>T	ENSP00000295550:p.Ala184Thr	Somatic		Capture	Illumina HiSeq	Phase_I	237968128	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278769	0.23307	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	4.9	4.01	0.46588	von Willebrand factor, type A (3);	0.153604	0.28796	U	0.014110	T	0.59715	0.2214	N	0.01048	-1.04	0.21553	N	0.999647	B;B	0.13145	0.007;0.004	B;B	0.15052	0.012;0.007	T	0.53655	-0.8408	10	0.38643	T	0.18	.	13.5341	0.61638	0.0:0.923:0.0:0.077	.	184;184	E9PCV6;P12111	.;CO6A3_HUMAN	T	184	ENSP00000295550:A184T;ENSP00000315609:A184T;ENSP00000295546:A184T;ENSP00000389539:A184T	ENSP00000295550:A184T	A	-	1	0	COL6A3	237968128	1.000000	0.71417	0.238000	0.24106	0.215000	0.24574	3.149000	0.50655	1.030000	0.39839	0.455000	0.32223	GCG		0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
MTERF4	130916	broad.mit.edu	37	2	242038893	242038893	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:242038893C>A	ENST00000391980.2	-	2	496	c.438G>T	c.(436-438)aaG>aaT	p.K146N	MTERFD2_ENST00000407095.3_Missense_Mutation_p.K146N|MTERFD2_ENST00000495694.1_Missense_Mutation_p.K146N|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		146					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.K146N(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGGGACTTTTCTTCAAGACCA	0.458																																					p.K146N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	2						.						118.0	120.0	119.0					2																	242038893		2203	4300	6503	241687566	SO:0001583	missense	130916	exon2																														ENST00000391980.2:c.438G>T	2.37:g.242038893C>A	ENSP00000375840:p.Lys146Asn	Somatic		Capture	Illumina HiSeq	Phase_I	241687566	NM_182501	A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256753	0.59321	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.52983	0.64;0.68;2.61;2.61;2.61;0.71	5.03	4.16	0.48862	.	0.372303	0.24091	N	0.041638	T	0.53514	0.1801	M	0.70595	2.14	0.24318	N	0.995053	P;P	0.48503	0.911;0.677	P;B	0.49752	0.621;0.42	T	0.47086	-0.9144	10	0.20519	T	0.43	1.6157	12.3723	0.55261	0.0:0.9166:0.0:0.0834	.	146;146	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	N	146;146;146;139;146;125	ENSP00000419315:K146N;ENSP00000385183:K146N;ENSP00000375840:K146N;ENSP00000409023:K139N;ENSP00000385630:K146N;ENSP00000393063:K125N	ENSP00000241527:K146N	K	-	3	2	MTERFD2	241687566	0.998000	0.40836	0.073000	0.20177	0.996000	0.88848	2.444000	0.44890	1.119000	0.41883	0.591000	0.81541	AAG		0.458	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4		
KIDINS220	57498	broad.mit.edu	37	2	8958830	8958830	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:8958830C>A	ENST00000256707.3	-	3	383	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	KIDINS220_ENST00000319688.5_Missense_Mutation_p.D68Y|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D68Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D68Y|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D26Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	68					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.D68Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATACCAAATCTTCCAGATTG	0.318																																					p.D68Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202T	2						.						102.0	100.0	100.0					2																	8958830		1798	4069	5867	8876281	SO:0001583	missense	57498	exon3			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.202G>T	2.37:g.8958830C>A	ENSP00000256707:p.Asp68Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	8876281	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505064	0.85282	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.72447	-0.4291	10	0.87932	D	0	.	18.1427	0.89644	0.0:1.0:0.0:0.0	.	68;26;68	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	Y	68;68;26;68;68;68	ENSP00000256707:D68Y;ENSP00000411849:D68Y;ENSP00000414923:D26Y;ENSP00000418974:D68Y;ENSP00000419964:D68Y;ENSP00000319947:D68Y	ENSP00000256707:D68Y	D	-	1	0	KIDINS220	8876281	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.931000	0.75863	2.558000	0.86282	0.655000	0.94253	GAT		0.318	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
MBOAT2	129642	broad.mit.edu	37	2	9017322	9017322	+	Silent	SNP	C	C	T	rs375049894		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:9017322C>T	ENST00000305997.3	-	7	726	c.528G>A	c.(526-528)gaG>gaA	p.E176E	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	176					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.E176E(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACTCAAATACTCCAGTAAGC	0.433																																					p.E176E	Ovarian(194;1699 3813 22401)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528A	2						.	C		1,4405	2.1+/-5.4	0,1,2202	91.0	82.0	85.0		528	4.4	1.0	2		85	0,8600		0,0,4300	no	coding-synonymous	MBOAT2	NM_138799.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		176/521	9017322	1,13005	2203	4300	6503	8934773	SO:0001819	synonymous_variant	129642	exon7			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.528G>A	2.37:g.9017322C>T		Somatic		Capture	Illumina HiSeq	Phase_I	8934773	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	CCDS1660.1																																																																																				0.433	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
IAH1	285148	broad.mit.edu	37	2	9628327	9628327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:9628327G>T	ENST00000497473.1	+	6	653	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	IAH1_ENST00000470914.1_Nonsense_Mutation_p.E93*|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Nonsense_Mutation_p.E93*|IAH1_ENST00000482918.1_Nonsense_Mutation_p.E93*	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	206					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)	p.E206*(1)		breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAAGGGGAATGAATTTTTGTT	0.443																																					p.E206X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G616T	2						.						140.0	128.0	131.0					2																	9628327		1858	4104	5962	9545778	SO:0001587	stop_gained	285148	exon6			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.616G>T	2.37:g.9628327G>T	ENSP00000417580:p.Glu206*	Somatic		Capture	Illumina HiSeq	Phase_I	9545778	NM_001039613	B4DMV3	Nonsense_Mutation	SNP	ENST00000497473.1	37	CCDS42651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.685100|6.685100	0.97759|0.97759	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602|ENST00000481367	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.297400|.	0.38058|.	N|.	0.001836|.	.|T	.|0.50497	.|0.1619	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60596	.|-0.7232	.|3	0.08837|.	T|.	0.75|.	-25.1124|-25.1124	7.6271|7.6271	0.28218|0.28218	0.106:0.1591:0.7349:0.0|0.106:0.1591:0.7349:0.0	.|.	.|.	.|.	.|.	X|I	93;206;93;93|185	.|.	ENSP00000419224:E93X|.	E|M	+|+	1|3	0|0	IAH1|IAH1	9545778|9545778	1.000000|1.000000	0.71417|0.71417	0.233000|0.233000	0.24025|0.24025	0.773000|0.773000	0.43773|0.43773	2.952000|2.952000	0.49097|0.49097	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.443	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613	
ADAM17	6868	broad.mit.edu	37	2	9634789	9634789	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:9634789T>C	ENST00000310823.3	-	15	2073	c.1891A>G	c.(1891-1893)Aca>Gca	p.T631A	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	631	Crambin-like.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.T631A(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AATCCTACTGTACAGGGCTTT	0.408																																					p.T631A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1891G	2						.						108.0	102.0	104.0					2																	9634789		2203	4300	6503	9552240	SO:0001583	missense	6868	exon15			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1891A>G	2.37:g.9634789T>C	ENSP00000309968:p.Thr631Ala	Somatic		Capture	Illumina HiSeq	Phase_I	9552240	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489079	0.84962	.	.	ENSG00000151694	ENST00000310823	T	0.20598	2.06	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	L	0.48642	1.525	0.80722	D	1	B;B	0.28998	0.23;0.23	B;B	0.27715	0.082;0.082	T	0.02184	-1.1199	10	0.38643	T	0.18	.	15.6588	0.77165	0.0:0.0:0.0:1.0	.	631;631	B2RNB2;P78536	.;ADA17_HUMAN	A	631	ENSP00000309968:T631A	ENSP00000309968:T631A	T	-	1	0	ADAM17	9552240	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.655000	0.83696	2.152000	0.67230	0.454000	0.30748	ACA		0.408	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
PFN4	375189	broad.mit.edu	37	2	24344126	24344126	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:24344126C>A	ENST00000313213.4	-	3	533	c.162G>T	c.(160-162)aaG>aaT	p.K54N	PFN4_ENST00000465360.1_5'UTR|FAM228B_ENST00000407625.1_5'Flank|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	54					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)	p.K54N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAGGGTTCTTGGCAAATC	0.483																																					p.K54N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	2						.						118.0	114.0	115.0					2																	24344126		2203	4300	6503	24197630	SO:0001583	missense	375189	exon3			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.162G>T	2.37:g.24344126C>A	ENSP00000322170:p.Lys54Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24197630	NM_199346	Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584947	0.65992	.	.	ENSG00000176732	ENST00000313213	D	0.85339	-1.97	5.59	2.43	0.29744	.	0.274240	0.32028	N	0.006700	T	0.76528	0.4000	L	0.43152	1.355	0.38663	D	0.952132	P	0.39535	0.677	B	0.39419	0.299	T	0.72424	-0.4298	10	0.42905	T	0.14	0.0999	4.764	0.13123	0.0:0.6238:0.2042:0.172	.	54	Q8NHR9	PROF4_HUMAN	N	54	ENSP00000322170:K54N	ENSP00000322170:K54N	K	-	3	2	PFN4	24197630	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.210000	0.17455	0.743000	0.32719	0.650000	0.86243	AAG		0.483	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346	
NCOA1	8648	broad.mit.edu	37	2	24949517	24949517	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:24949517G>A	ENST00000406961.1	+	15	3311	c.2659G>A	c.(2659-2661)Gat>Aat	p.D887N	NCOA1_ENST00000395856.3_Missense_Mutation_p.D887N|NCOA1_ENST00000348332.3_Missense_Mutation_p.D887N|NCOA1_ENST00000538539.1_Missense_Mutation_p.D887N|NCOA1_ENST00000288599.5_Missense_Mutation_p.D887N|NCOA1_ENST00000405141.1_Missense_Mutation_p.D887N|NCOA1_ENST00000407230.1_Missense_Mutation_p.D736N			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	887	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.D887N(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAACAGGCGATCAGATTCC	0.348			T	PAX3	alveolar rhadomyosarcoma																																p.D887N			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2659A	2						.						96.0	98.0	97.0					2																	24949517		2203	4299	6502	24803021	SO:0001583	missense	8648	exon13			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2659G>A	2.37:g.24949517G>A	ENSP00000385216:p.Asp887Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24803021	NM_003743	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793249	0.31685	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01933	4.68;4.69;4.55;4.69;4.68;4.69;4.67	5.38	5.38	0.77491	.	0.270741	0.41194	D	0.000940	T	0.02494	0.0076	N	0.24115	0.695	0.31089	N	0.711015	P;P;P;D	0.56746	0.876;0.804;0.876;0.977	B;B;B;B	0.43754	0.228;0.114;0.308;0.43	T	0.53208	-0.8471	10	0.13470	T	0.59	.	17.3256	0.87246	0.0:0.0:1.0:0.0	.	887;887;887;736	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	N	887;887;736;887;887;887;887	ENSP00000385216:D887N;ENSP00000385097:D887N;ENSP00000385195:D736N;ENSP00000444039:D887N;ENSP00000320940:D887N;ENSP00000288599:D887N;ENSP00000379197:D887N	ENSP00000288599:D887N	D	+	1	0	NCOA1	24803021	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.735000	0.68587	2.680000	0.91292	0.644000	0.83932	GAT		0.348	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
DRC1	92749	broad.mit.edu	37	2	26671585	26671585	+	Missense_Mutation	SNP	G	G	A	rs372509418		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:26671585G>A	ENST00000288710.2	+	11	1497	c.1423G>A	c.(1423-1425)Gcg>Acg	p.A475T		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	475					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.A475T(1)									AGAGGCCGCCGCGGAACCAGA	0.512																																					p.A475T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1423A	2						.	T	THR/ALA	0,4406		0,0,2203	59.0	71.0	67.0		1423	2.5	0.0	2		67	1,8599		0,1,4299	no	missense	CCDC164	NM_145038.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/741	26671585	1,13005	2203	4300	6503	26525089	SO:0001583	missense	92749	exon11			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1423G>A	2.37:g.26671585G>A	ENSP00000288710:p.Ala475Thr	Somatic		Capture	Illumina HiSeq	Phase_I	26525089	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592003	0.46214	0.0	1.16E-4	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.14144	2.53	4.88	2.51	0.30379	.	1.028080	0.07701	N	0.940438	T	0.09202	0.0227	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.45629	-0.9248	10	0.14252	T	0.57	0.2222	4.1879	0.10407	0.0:0.2631:0.1706:0.5663	.	475	Q96MC2	CC164_HUMAN	T	475;31	ENSP00000288710:A475T	ENSP00000288710:A475T	A	+	1	0	CCDC164	26525089	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.163000	0.09997	0.116000	0.18110	-0.256000	0.11100	GCG		0.512	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
TMEM214	54867	broad.mit.edu	37	2	27258560	27258560	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27258560C>A	ENST00000238788.9	+	4	663	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	201					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L201M(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGACCACTGTCTGTTCACCAT	0.552																																					p.L201M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C601A	2						.						116.0	117.0	116.0					2																	27258560		1953	4159	6112	27112064	SO:0001583	missense	54867	exon4				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.601C>A	2.37:g.27258560C>A	ENSP00000238788:p.Leu201Met	Somatic		Capture	Illumina HiSeq	Phase_I	27112064	NM_017727	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376219	0.42105	.	.	ENSG00000119777	ENST00000238788	T	0.61274	0.12	5.67	2.9	0.33743	.	0.167603	0.40302	N	0.001128	T	0.32852	0.0843	N	0.19112	0.55	0.80722	D	1	P	0.44006	0.824	B	0.37015	0.239	T	0.05616	-1.0874	10	0.31617	T	0.26	-8.3306	4.0091	0.09615	0.2694:0.4836:0.0:0.247	.	201	Q6NUQ4	TM214_HUMAN	M	201	ENSP00000238788:L201M	ENSP00000238788:L201M	L	+	1	2	TMEM214	27112064	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.784000	0.38674	0.746000	0.32786	0.561000	0.74099	CTG		0.552	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	
CAD	790	broad.mit.edu	37	2	27456330	27456330	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27456330C>T	ENST00000403525.1	+	19	3097	c.2953C>T	c.(2953-2955)Cgt>Tgt	p.R985C	CAD_ENST00000264705.4_Missense_Mutation_p.R1048C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R1048C(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGAGAACCGTTTCAAGTT	0.612																																					p.R1048C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3142T	2						.						51.0	51.0	51.0					2																	27456330		2203	4300	6503	27309834	SO:0001583	missense	790	exon20			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2953C>T	2.37:g.27456330C>T	ENSP00000384510:p.Arg985Cys	Somatic		Capture	Illumina HiSeq	Phase_I	27309834	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.012529	0.75161	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98649	-5.05;-5.05	6.07	4.18	0.49190	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97669	1.0165	10	0.87932	D	0	-4.9621	13.3008	0.60324	0.4104:0.5896:0.0:0.0	.	985;1048	F8VPD4;P27708	.;PYR1_HUMAN	C	1048;985	ENSP00000264705:R1048C;ENSP00000384510:R985C	ENSP00000264705:R1048C	R	+	1	0	CAD	27309834	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.981000	0.40628	1.534000	0.49203	0.655000	0.94253	CGT		0.612	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
CAD	790	broad.mit.edu	37	2	27461346	27461346	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27461346C>T	ENST00000403525.1	+	30	4863	c.4719C>T	c.(4717-4719)tgC>tgT	p.C1573C	CAD_ENST00000264705.4_Silent_p.C1636C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.C1636C(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGACCTGCGAGGTGGCTC	0.612																																					p.C1636C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4908T	2						.						82.0	86.0	84.0					2																	27461346		2203	4300	6503	27314850	SO:0001819	synonymous_variant	790	exon31			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4719C>T	2.37:g.27461346C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27314850	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37																																																																																					0.612	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
GTF3C2	2976	broad.mit.edu	37	2	27552107	27552107	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27552107G>A	ENST00000359541.2	-	14	2349	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	GTF3C2_ENST00000264720.3_Silent_p.F640F			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	640					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.F640F(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGTCCCAGAATTTGATTT	0.502																																					p.F640F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1920T	2						.						257.0	268.0	264.0					2																	27552107		2203	4300	6503	27405611	SO:0001819	synonymous_variant	2976	exon14			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1920C>T	2.37:g.27552107G>A		Somatic		Capture	Illumina HiSeq	Phase_I	27405611	NM_001035521	D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	8.220	0.802364	0.16397	.	.	ENSG00000115207	ENST00000454704;ENST00000415683	.	.	.	5.87	4.03	0.46877	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57636	-0.7777	4	.	.	.	-16.5777	10.2043	0.43103	0.1673:0.0:0.8327:0.0	.	.	.	.	F	149;42	.	.	S	-	2	0	GTF3C2	27405611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.384000	0.44362	0.894000	0.36317	0.655000	0.94253	TCT		0.502	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
NRBP1	29959	broad.mit.edu	37	2	27659696	27659696	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27659696G>T	ENST00000233557.3	+	9	1570	c.738G>T	c.(736-738)gaG>gaT	p.E246D	NRBP1_ENST00000379863.3_Missense_Mutation_p.E254D|NRBP1_ENST00000379852.3_Missense_Mutation_p.E246D			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.E246D(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTGCACCAGAGTATGGAGGTG	0.478																																					p.E246D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G738T	2						.						120.0	101.0	107.0					2																	27659696		2203	4300	6503	27513200	SO:0001583	missense	29959	exon8			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.738G>T	2.37:g.27659696G>T	ENSP00000233557:p.Glu246Asp	Somatic		Capture	Illumina HiSeq	Phase_I	27513200	NM_013392	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152897	0.78001	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	D;D;D	0.89485	-2.52;-2.52;-2.52	5.69	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.91249	3.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.94023	0.7294	10	0.87932	D	0	-15.725	9.4354	0.38635	0.2441:0.0:0.7559:0.0	.	226;254;246	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	D	246;226;246;254	ENSP00000233557:E246D;ENSP00000369181:E246D;ENSP00000369192:E254D	ENSP00000233557:E246D	E	+	3	2	NRBP1	27513200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.024000	0.41049	0.681000	0.31386	0.655000	0.94253	GAG		0.478	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392	
CCDC121	79635	broad.mit.edu	37	2	27850553	27850553	+	Missense_Mutation	SNP	G	G	T	rs138812850		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27850553G>T	ENST00000324364.3	-	2	294	c.114C>A	c.(112-114)ttC>ttA	p.F38L	GPN1_ENST00000458167.2_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.F200L|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000424214.1_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000264718.3_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	38								p.F38L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					ATTCCAGAAAGAATCTGTTTT	0.418																																					p.F200L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C600A	2						.						115.0	120.0	119.0					2																	27850553		2203	4300	6503	27704057	SO:0001583	missense	79635	exon2			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.114C>A	2.37:g.27850553G>T	ENSP00000339087:p.Phe38Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27704057	NM_001142683	B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	G	3.564	-0.088952	0.07097	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.28255	1.62;1.62	4.87	-0.755	0.11061	.	3.307780	0.00604	N	0.000399	T	0.15132	0.0365	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13150	-1.0520	10	0.02654	T	1	3.146	3.0051	0.06026	0.0851:0.28:0.3478:0.287	.	38	Q6ZUS5	CC121_HUMAN	L	38;200	ENSP00000339087:F38L;ENSP00000412150:F200L	ENSP00000339087:F38L	F	-	3	2	CCDC121	27704057	0.041000	0.20044	0.000000	0.03702	0.012000	0.07955	0.341000	0.19909	-0.154000	0.11118	-2.174000	0.00321	TTC		0.418	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584	
SLC4A1AP	22950	broad.mit.edu	37	2	27892130	27892130	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27892130T>G	ENST00000326019.6	+	5	1503	c.1221T>G	c.(1219-1221)gaT>gaG	p.D407E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	407						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D407E(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTGTGGACGATTCAACTGGAA	0.393																																					p.D407E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1221G	2						.						188.0	188.0	188.0					2																	27892130		2203	4300	6503	27745634	SO:0001583	missense	22950	exon5				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1221T>G	2.37:g.27892130T>G	ENSP00000323837:p.Asp407Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27745634	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063283	0.76187	.	.	ENSG00000163798	ENST00000326019	T	0.34472	1.36	5.65	2.03	0.26663	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.69823	2.125	0.58432	D	0.999999	D	0.71674	0.998	D	0.74348	0.983	T	0.44345	-0.9334	10	0.23891	T	0.37	-23.6538	9.0586	0.36421	0.0:0.2095:0.0:0.7905	.	407	Q9BWU0	NADAP_HUMAN	E	407	ENSP00000323837:D407E	ENSP00000323837:D407E	D	+	3	2	SLC4A1AP	27745634	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.373000	0.20484	0.426000	0.26116	0.528000	0.53228	GAT		0.393	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
SLC4A1AP	22950	broad.mit.edu	37	2	27900641	27900641	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27900641C>T	ENST00000326019.6	+	8	1895	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	538						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A538V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TCTTTAGATGCGTTCATGTCA	0.373																																					p.A538V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1613T	2						.						103.0	99.0	101.0					2																	27900641		2203	4300	6503	27754145	SO:0001583	missense	22950	exon8				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1613C>T	2.37:g.27900641C>T	ENSP00000323837:p.Ala538Val	Somatic		Capture	Illumina HiSeq	Phase_I	27754145	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479996	0.84747	.	.	ENSG00000163798	ENST00000326019	T	0.37235	1.21	5.37	5.37	0.77165	.	0.047328	0.85682	D	0.000000	T	0.57946	0.2088	M	0.78049	2.395	0.58432	D	0.999992	D	0.76494	0.999	P	0.61874	0.895	T	0.62604	-0.6819	10	0.72032	D	0.01	-17.6361	13.9193	0.63921	0.1901:0.8099:0.0:0.0	.	538	Q9BWU0	NADAP_HUMAN	V	538	ENSP00000323837:A538V	ENSP00000323837:A538V	A	+	2	0	SLC4A1AP	27754145	0.994000	0.37717	0.957000	0.39632	0.989000	0.77384	3.242000	0.51384	2.497000	0.84241	0.650000	0.86243	GCG		0.373	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
SLC4A1AP	22950	broad.mit.edu	37	2	27910827	27910827	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:27910827G>T	ENST00000326019.6	+	11	2425	c.2143G>T	c.(2143-2145)Gaa>Taa	p.E715*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	715	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TAGCGAGGAAGAACAGAATAA	0.383																																					p.E715X												.	.	0			c.G2143T	2						.						79.0	73.0	75.0					2																	27910827		2203	4300	6503	27764331	SO:0001587	stop_gained	22950	exon11				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2143G>T	2.37:g.27910827G>T	ENSP00000323837:p.Glu715*	None		Capture	Illumina HiSeq	Phase_I	27764331	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515369	0.85389	.	.	ENSG00000163798	ENST00000326019	.	.	.	5.0	2.22	0.28083	.	0.567800	0.17926	N	0.157328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-5.5936	5.5054	0.16850	0.1781:0.1628:0.6591:0.0	.	.	.	.	X	715	.	ENSP00000323837:E715X	E	+	1	0	SLC4A1AP	27764331	0.002000	0.14202	0.002000	0.10522	0.031000	0.12232	0.762000	0.26503	0.378000	0.24764	0.650000	0.86243	GAA		0.383	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
FAM179A	165186	broad.mit.edu	37	2	29249791	29249791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:29249791G>T	ENST00000379558.4	+	14	2277	c.1926G>T	c.(1924-1926)gaG>gaT	p.E642D	FAM179A_ENST00000403861.2_Missense_Mutation_p.E587D|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	642								p.E642D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCGGCGCTGAGAAGCTTCTCT	0.602																																					p.E642D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1926T	2						.						25.0	28.0	27.0					2																	29249791		1973	4148	6121	29103295	SO:0001583	missense	165186	exon14			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1926G>T	2.37:g.29249791G>T	ENSP00000368876:p.Glu642Asp	Somatic		Capture	Illumina HiSeq	Phase_I	29103295	NM_199280	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	9.962	1.222975	0.22457	.	.	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861	T;T;T	0.67865	1.01;-0.29;-0.29	4.81	1.9	0.25705	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.53938	D	0.000055	T	0.55114	0.1900	L	0.50333	1.59	0.29318	N	0.867549	B;B	0.25048	0.096;0.117	B;B	0.26094	0.039;0.066	T	0.49331	-0.8951	10	0.35671	T	0.21	.	6.8767	0.24151	0.2227:0.1283:0.649:0.0	.	587;642	F8W8E4;Q6ZUX3	.;F179A_HUMAN	D	77;642;587	ENSP00000384897:E77D;ENSP00000368876:E642D;ENSP00000384699:E587D	ENSP00000368876:E642D	E	+	3	2	FAM179A	29103295	0.997000	0.39634	0.990000	0.47175	0.493000	0.33554	0.343000	0.19944	0.431000	0.26258	0.561000	0.74099	GAG		0.602	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
CLIP4	79745	broad.mit.edu	37	2	29355051	29355051	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:29355051G>T	ENST00000320081.5	+	4	562	c.307G>T	c.(307-309)Gat>Tat	p.D103Y	CLIP4_ENST00000404424.1_Missense_Mutation_p.D103Y|CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000401605.1_Missense_Mutation_p.D103Y	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	103								p.D103Y(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GAATGATAGAGATGGATTGAC	0.373																																					p.D103Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307T	2						.						258.0	246.0	250.0					2																	29355051		2203	4300	6503	29208555	SO:0001583	missense	79745	exon4			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.307G>T	2.37:g.29355051G>T	ENSP00000327009:p.Asp103Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	29208555	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743272	0.49151	.	.	ENSG00000115295	ENST00000401605;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000530644	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.54	4.66	0.58398	Ankyrin repeat-containing domain (3);	0.048705	0.85682	D	0.000000	T	0.71400	0.3335	M	0.78049	2.395	0.80722	D	1	P;P	0.44627	0.804;0.839	P;P	0.52481	0.454;0.7	T	0.76506	-0.2934	10	0.87932	D	0	.	16.4294	0.83835	0.0:0.1316:0.8684:0.0	.	103;103	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	Y	103;103;103;103;104;103;85	ENSP00000384242:D103Y;ENSP00000385594:D103Y;ENSP00000327009:D103Y;ENSP00000393354:D103Y	ENSP00000327009:D103Y	D	+	1	0	CLIP4	29208555	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	7.841000	0.86834	1.324000	0.45282	0.650000	0.86243	GAT		0.373	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
CLIP4	79745	broad.mit.edu	37	2	29380167	29380167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:29380167G>T	ENST00000320081.5	+	11	1608	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N	CLIP4_ENST00000401617.2_Missense_Mutation_p.K344N|CLIP4_ENST00000404424.1_Missense_Mutation_p.K451N|CLIP4_ENST00000401605.1_Missense_Mutation_p.K451N	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	451	Ser-rich.							p.K451N(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GCAGTAACAAGAAGACAATGA	0.453																																					p.K451N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1353T	2						.						174.0	169.0	171.0					2																	29380167		2203	4300	6503	29233671	SO:0001583	missense	79745	exon11			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1353G>T	2.37:g.29380167G>T	ENSP00000327009:p.Lys451Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29233671	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696379	0.48202	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.77098	-1.07;-0.75;-0.71;-0.71	5.8	5.8	0.92144	.	0.224065	0.44902	D	0.000417	D	0.84884	0.5571	L	0.51422	1.61	0.46542	D	0.999097	D;B	0.76494	0.999;0.289	D;B	0.80764	0.994;0.052	T	0.83109	-0.0124	10	0.38643	T	0.18	.	16.9798	0.86324	0.0:0.0:1.0:0.0	.	451;451	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	N	451;344;451;451;451;452;411	ENSP00000384242:K451N;ENSP00000385148:K344N;ENSP00000385594:K451N;ENSP00000327009:K451N	ENSP00000327009:K451N	K	+	3	2	CLIP4	29233671	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	3.015000	0.49599	2.735000	0.93741	0.655000	0.94253	AAG		0.453	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
ALK	238	broad.mit.edu	37	2	29606618	29606618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:29606618G>A	ENST00000389048.3	-	5	2168	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	421	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A421V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTTCTTCAGGGCAAAGAAGTC	0.512			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.A421V		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1262T	2						.						110.0	95.0	100.0					2																	29606618		2203	4300	6503	29460122	SO:0001583	missense	238	exon5	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1262C>T	2.37:g.29606618G>A	ENSP00000373700:p.Ala421Val	Somatic		Capture	Illumina HiSeq	Phase_I	29460122	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334815	0.81801	.	.	ENSG00000171094	ENST00000389048	T	0.02177	4.41	6.02	5.12	0.69794	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.239834	0.21594	N	0.072042	T	0.01661	0.0053	N	0.08118	0	0.80722	D	1	P	0.34934	0.476	B	0.33196	0.159	T	0.69514	-0.5125	9	.	.	.	.	14.6743	0.68967	0.0:0.1446:0.8554:0.0	.	421	Q9UM73	ALK_HUMAN	V	421	ENSP00000373700:A421V	.	A	-	2	0	ALK	29460122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.962000	0.70364	1.513000	0.48852	0.650000	0.86243	GCC		0.512	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
LCLAT1	253558	broad.mit.edu	37	2	30785080	30785080	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:30785080G>A	ENST00000309052.4	+	5	756	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	LCLAT1_ENST00000540623.1_Missense_Mutation_p.E145K|LCLAT1_ENST00000359433.1_Missense_Mutation_p.E183K|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.E183K|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E145K	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	183					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.E183K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GAGCCATTTCGAAGACATGAT	0.403																																					p.E183K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	2						.						106.0	99.0	101.0					2																	30785080		2203	4300	6503	30638584	SO:0001583	missense	253558	exon5			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.547G>A	2.37:g.30785080G>A	ENSP00000310551:p.Glu183Lys	Somatic		Capture	Illumina HiSeq	Phase_I	30638584	NM_182551	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524921	0.64747	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000319406;ENST00000309052;ENST00000359433;ENST00000540623	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.48	5.48	0.80851	Phospholipid/glycerol acyltransferase (2);	0.113920	0.64402	D	0.000003	T	0.81992	0.4940	N	0.05383	-0.06	0.80722	D	1	B;P	0.39903	0.417;0.694	B;B	0.29716	0.074;0.106	T	0.82099	-0.0625	9	.	.	.	-21.8721	19.3613	0.94440	0.0:0.0:1.0:0.0	.	183;183	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	K	145;145;183;183;183;145	ENSP00000368823:E145K;ENSP00000368826:E183K;ENSP00000310551:E183K;ENSP00000352406:E183K;ENSP00000442857:E145K	.	E	+	1	0	LCLAT1	30638584	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.708000	0.74660	2.573000	0.86826	0.650000	0.86243	GAA		0.403	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551	
CAPN13	92291	broad.mit.edu	37	2	31000437	31000437	+	Silent	SNP	G	G	A	rs150868423	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:31000437G>A	ENST00000295055.8	-	3	443	c.267C>T	c.(265-267)ggC>ggT	p.G89G	CAPN13_ENST00000534090.2_Silent_p.G89G|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	89	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G89G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCTTACCTGCGCCTCCTTGTT	0.517													G|||	15	0.00299521	0.0113	0.0	5008	,	,		20766	0.0		0.0	False		,,,				2504	0.0				p.G89G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	2						.	G		41,3881		0,41,1920	69.0	69.0	69.0		267	-9.6	0.0	2	dbSNP_134	69	0,8272		0,0,4136	no	coding-synonymous	CAPN13	NM_144575.2		0,41,6056	AA,AG,GG		0.0,1.0454,0.3362		89/670	31000437	41,12153	1961	4136	6097	30853941	SO:0001819	synonymous_variant	92291	exon3				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.267C>T	2.37:g.31000437G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30853941	NM_144575	Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	CCDS46252.1																																																																																				0.517	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
XDH	7498	broad.mit.edu	37	2	31593230	31593230	+	Silent	SNP	C	C	T	rs557103794		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:31593230C>T	ENST00000379416.3	-	18	2019	c.1971G>A	c.(1969-1971)gcG>gcA	p.A657A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	657					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.A657A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTTATCCTTCGCAAAGACTG	0.358																																					p.A657A	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1971A	2						.						84.0	83.0	83.0					2																	31593230		2203	4300	6503	31446734	SO:0001819	synonymous_variant	7498	exon18			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1971G>A	2.37:g.31593230C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31446734	NM_000379	Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.358	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
SPAST	6683	broad.mit.edu	37	2	32361702	32361702	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:32361702T>G	ENST00000315285.3	+	10	1441	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	SPAST_ENST00000345662.1_Missense_Mutation_p.F407C	NM_014946.3	NP_055761.2			spastin									p.F439C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTATAATTTTTATAGGTAAG	0.348																																					p.F407C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1220G	2						.						83.0	89.0	87.0					2																	32361702		2203	4300	6503	32215206	SO:0001583	missense	6683	exon9			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1316T>G	2.37:g.32361702T>G	ENSP00000320885:p.Phe439Cys	Somatic		Capture	Illumina HiSeq	Phase_I	32215206	NM_199436		Missense_Mutation	SNP	ENST00000315285.3	37	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174400	0.78452	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.95377	-3.69;-3.69	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99204	1.0874	10	0.87932	D	0	-3.1337	14.0688	0.64849	0.0:0.0:0.0:1.0	.	407;439	E5KRP6;Q9UBP0	.;SPAST_HUMAN	C	407;439	ENSP00000340817:F407C;ENSP00000320885:F439C	ENSP00000320885:F439C	F	+	2	0	SPAST	32215206	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.682000	0.74528	2.150000	0.67090	0.533000	0.62120	TTT		0.348	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	
SLC30A6	55676	broad.mit.edu	37	2	32445760	32445760	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:32445760G>T	ENST00000282587.5	+	14	1401	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I	SLC30A6_ENST00000406369.1_Missense_Mutation_p.R381I|SLC30A6_ENST00000538303.1_Missense_Mutation_p.R426I|SLC30A6_ENST00000357055.3_Missense_Mutation_p.R258I|SLC30A6_ENST00000379343.2_Missense_Mutation_p.R495I|SLC30A6_ENST00000435660.1_Missense_Mutation_p.R432I	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	455					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.R455I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTAATAATAGAATTGGACAA	0.348																																					p.R495I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1484T	2						.						39.0	41.0	40.0					2																	32445760		2172	4287	6459	32299264	SO:0001583	missense	55676	exon15			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1364G>T	2.37:g.32445760G>T	ENSP00000282587:p.Arg455Ile	Somatic		Capture	Illumina HiSeq	Phase_I	32299264	NM_001193513	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221682	0.58560	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.78364	-1.17;-1.17	5.58	5.58	0.84498	.	0.117279	0.56097	D	0.000021	T	0.76357	0.3976	N	0.08118	0	0.58432	D	0.999998	B;B;D;B	0.58970	0.019;0.032;0.984;0.019	B;B;P;B	0.59703	0.01;0.023;0.862;0.01	T	0.81614	-0.0853	10	0.72032	D	0.01	-17.4537	19.5298	0.95223	0.0:0.0:1.0:0.0	.	426;432;495;455	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	I	495;455;432;426;258;381	ENSP00000282587:R455I;ENSP00000440678:R426I	ENSP00000282587:R455I	R	+	2	0	SLC30A6	32299264	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.825000	0.39081	2.789000	0.95967	0.591000	0.81541	AGA		0.348	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		
NLRC4	58484	broad.mit.edu	37	2	32475780	32475780	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:32475780C>A	ENST00000404025.2	-	5	1641	c.1153G>T	c.(1153-1155)Gac>Tac	p.D385Y	NLRC4_ENST00000402280.1_Missense_Mutation_p.D385Y|NLRC4_ENST00000360906.5_Missense_Mutation_p.D385Y|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	385	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.D385Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CGAATGAAGTCACTTGCAGCC	0.463																																					p.D385Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1153T	2						.						94.0	98.0	97.0					2																	32475780		2203	4300	6503	32329284	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1153G>T	2.37:g.32475780C>A	ENSP00000385090:p.Asp385Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	32329284	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	0.835	-0.743990	0.03088	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.12255	2.7;2.7;2.7	3.26	3.26	0.37387	.	0.411149	0.19979	N	0.101814	T	0.09024	0.0223	L	0.36672	1.1	0.37546	D	0.918512	P	0.37015	0.578	B	0.33042	0.157	T	0.07731	-1.0757	9	0.51188	T	0.08	-9.6547	4.8577	0.13568	0.0:0.6529:0.2234:0.1237	.	385	Q9NPP4	NLRC4_HUMAN	Y	385	ENSP00000354159:D385Y;ENSP00000385428:D385Y;ENSP00000385090:D385Y	ENSP00000354159:D385Y	D	-	1	0	NLRC4	32329284	0.001000	0.12720	0.012000	0.15200	0.077000	0.17291	0.335000	0.19806	1.831000	0.53308	0.536000	0.68110	GAC		0.463	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
BIRC6	57448	broad.mit.edu	37	2	32688377	32688377	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:32688377A>G	ENST00000421745.2	+	24	5003	c.4869A>G	c.(4867-4869)gcA>gcG	p.A1623A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1623					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A1623A(1)|p.A1595A(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTCTCATGCAATGGCTTCAG	0.512																																					p.A1623A	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A4869G	2						.						73.0	68.0	69.0					2																	32688377		2203	4300	6503	32541881	SO:0001819	synonymous_variant	57448	exon24			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4869A>G	2.37:g.32688377A>G		Somatic		Capture	Illumina HiSeq	Phase_I	32541881	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.512	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32842945	32842945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:32842945G>T	ENST00000421745.2	+	74	14682	c.14548G>T	c.(14548-14550)Gaa>Taa	p.E4850*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4850					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E4822*(2)|p.E4850*(2)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGCAGCAAAGAACTCCCCAG	0.473																																					p.E4850X	Pancreas(94;175 1509 16028 18060 45422)											.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G14548T	2						.						89.0	76.0	80.0					2																	32842945		2203	4300	6503	32696449	SO:0001587	stop_gained	57448	exon74			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14548G>T	2.37:g.32842945G>T	ENSP00000393596:p.Glu4850*	Somatic		Capture	Illumina HiSeq	Phase_I	32696449	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	55	24.564365	0.99961	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.76	5.76	0.90799	.	0.264461	0.36034	N	0.002829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	4850	.	ENSP00000393596:E4850X	E	+	1	0	BIRC6	32696449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.142000	0.94618	2.718000	0.92993	0.655000	0.94253	GAA		0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
CRIM1	51232	broad.mit.edu	37	2	36706686	36706686	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:36706686C>T	ENST00000280527.2	+	7	1588	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	407	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G407G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ATGCCAATGGCCTGATCCTTG	0.517																																					p.G407G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1221T	2						.						102.0	93.0	96.0					2																	36706686		2203	4300	6503	36560190	SO:0001819	synonymous_variant	51232	exon7			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1221C>T	2.37:g.36706686C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36560190	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																				0.517	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
CDC42EP3	10602	broad.mit.edu	37	2	37873479	37873479	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:37873479G>T	ENST00000295324.3	-	2	1252	c.252C>A	c.(250-252)ttC>ttA	p.F84L	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	84					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)	p.F84L(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TGGCCCGGAAGAACTCATTAT	0.527																																					p.F84L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C252A	2						.						104.0	109.0	107.0					2																	37873479		2203	4300	6503	37726983	SO:0001583	missense	10602	exon2			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.252C>A	2.37:g.37873479G>T	ENSP00000295324:p.Phe84Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37726983	NM_006449	B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562588	0.65538	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T	0.30182	1.54	5.91	4.94	0.65067	.	0.046124	0.85682	D	0.000000	T	0.44953	0.1318	L	0.56769	1.78	0.44685	D	0.997677	D	0.69078	0.997	D	0.77004	0.989	T	0.39563	-0.9608	10	0.14252	T	0.57	.	8.9008	0.35493	0.1801:0.0:0.8199:0.0	.	84	Q9UKI2	BORG2_HUMAN	L	84	ENSP00000295324:F84L	ENSP00000295324:F84L	F	-	3	2	CDC42EP3	37726983	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.365000	0.34182	1.338000	0.45544	0.655000	0.94253	TTC		0.527	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449	
SOS1	6654	broad.mit.edu	37	2	39224509	39224509	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:39224509C>A	ENST00000426016.1	-	19	2935	c.2849G>T	c.(2848-2850)aGa>aTa	p.R950I	SOS1_ENST00000395038.2_Missense_Mutation_p.R950I|SOS1_ENST00000402219.2_Missense_Mutation_p.R950I			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	950	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R950I(1)|p.E942fs*6(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTTTCCATGTCTTTTTAGGAC	0.353									Noonan syndrome																												p.R950I												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|stomach(1)	c.G2849T	2						.						151.0	141.0	144.0					2																	39224509		2203	4300	6503	39078013	SO:0001583	missense	6654	exon18	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2849G>T	2.37:g.39224509C>A	ENSP00000387784:p.Arg950Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39078013	NM_005633	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374990	0.95923	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.30182	1.54;1.54;1.54	5.68	5.68	0.88126	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.52011	1.625	0.80722	D	1	P	0.52692	0.955	P	0.56788	0.806	T	0.36744	-0.9735	10	0.59425	D	0.04	.	19.7993	0.96500	0.0:1.0:0.0:0.0	.	950	Q07889	SOS1_HUMAN	I	950;950;682;950;950	ENSP00000387784:R950I;ENSP00000384675:R950I;ENSP00000378479:R950I	ENSP00000263879:R950I	R	-	2	0	SOS1	39078013	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	7.284000	0.78650	2.673000	0.90976	0.563000	0.77884	AGA		0.353	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
SLC8A1	6546	broad.mit.edu	37	2	40657200	40657200	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:40657200T>G	ENST00000403092.1	-	2	254	c.221A>C	c.(220-222)aAa>aCa	p.K74T	SLC8A1_ENST00000405901.3_Missense_Mutation_p.K74T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.K74T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.K74T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.K74T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.K74T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.K74T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.K74T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.K74T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.K74T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	74					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.K74T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTAGCAATTTTGTCCCCAAA	0.423																																					p.K74T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A221C	2						.						99.0	99.0	99.0					2																	40657200		2203	4300	6503	40510704	SO:0001583	missense	6546	exon1				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.221A>C	2.37:g.40657200T>G	ENSP00000384763:p.Lys74Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40510704	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428256	0.43122	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531	T;T;T;T;T;T;T;T;T;T	0.30714	1.54;1.56;1.56;1.56;1.54;1.54;1.56;1.52;1.54;1.53	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	M	0.71036	2.16	0.80722	D	1	B;D;P;B;B	0.61080	0.256;0.989;0.751;0.138;0.162	B;D;B;B;B	0.70487	0.112;0.969;0.426;0.177;0.11	T	0.56595	-0.7953	10	0.62326	D	0.03	.	13.7389	0.62836	0.0:0.0:0.0:1.0	.	74;74;74;74;74	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	74	ENSP00000383886:K74T;ENSP00000440727:K74T;ENSP00000384763:K74T;ENSP00000385678:K74T;ENSP00000385188:K74T;ENSP00000385535:K74T;ENSP00000332931:K74T;ENSP00000384908:K74T;ENSP00000385811:K74T;ENSP00000443515:K74T	ENSP00000332931:K74T	K	-	2	0	SLC8A1	40510704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.881000	0.87252	2.140000	0.66376	0.460000	0.39030	AAA		0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
EML4	27436	broad.mit.edu	37	2	42483684	42483684	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:42483684C>A	ENST00000318522.5	+	3	514	c.252C>A	c.(250-252)acC>acA	p.T84T	EML4_ENST00000401738.3_Silent_p.T84T|EML4_ENST00000402711.2_Silent_p.T84T	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	84					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.T84T(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCTGTATAACCAATGGAAGTG	0.363			T	ALK	NSCLC																																p.T84T			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252A	2						.						107.0	96.0	100.0					2																	42483684		2203	4300	6503	42337188	SO:0001819	synonymous_variant	27436	exon3			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.252C>A	2.37:g.42483684C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42337188	NM_001145076	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	CCDS1807.1																																																																																				0.363	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	
EML4	27436	broad.mit.edu	37	2	42528494	42528494	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:42528494C>A	ENST00000318522.5	+	14	1865	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M	EML4_ENST00000401738.3_Missense_Mutation_p.L546M|EML4_ENST00000402711.2_Missense_Mutation_p.L477M|EML4_ENST00000453191.2_5'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	535					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.L535M(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAAAATAATTCTGTGGGATCA	0.363			T	ALK	NSCLC																																p.L477M			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1429A	2						.						68.0	67.0	67.0					2																	42528494		2203	4300	6503	42381998	SO:0001583	missense	27436	exon13			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1603C>A	2.37:g.42528494C>A	ENSP00000320663:p.Leu535Met	Somatic		Capture	Illumina HiSeq	Phase_I	42381998	NM_001145076	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	De_novo_Start_OutOfFrame	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841475	0.32513	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.59772	0.24;0.24;0.24	5.58	3.03	0.35002	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.221892	0.39341	N	0.001399	T	0.50309	0.1608	M	0.72479	2.2	0.80722	D	1	B;P;B	0.39060	0.165;0.657;0.145	B;B;B	0.37387	0.094;0.248;0.077	T	0.51474	-0.8701	10	0.52906	T	0.07	-5.9197	4.1658	0.10306	0.1644:0.4981:0.0:0.3376	.	477;546;535	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	M	535;477;546	ENSP00000320663:L535M;ENSP00000385059:L477M;ENSP00000384939:L546M	ENSP00000320663:L535M	L	+	1	2	EML4	42381998	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.782000	0.26788	1.015000	0.39444	0.655000	0.94253	CTG		0.363	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	
PLEKHH2	130271	broad.mit.edu	37	2	43947855	43947855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:43947855G>T	ENST00000282406.4	+	16	2618	c.2508G>T	c.(2506-2508)aaG>aaT	p.K836N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	836	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.K836N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAATAGGAAAGACATTATATT	0.323																																					p.K836N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2508T	2						.						160.0	170.0	166.0					2																	43947855		2203	4299	6502	43801359	SO:0001583	missense	130271	exon16			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2508G>T	2.37:g.43947855G>T	ENSP00000282406:p.Lys836Asn	Somatic		Capture	Illumina HiSeq	Phase_I	43801359	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196181	0.58126	.	.	ENSG00000152527	ENST00000282406	T	0.22336	1.96	4.69	1.47	0.22746	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.046763	0.85682	D	0.000000	T	0.25568	0.0622	N	0.21373	0.66	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.02313	-1.1178	10	0.42905	T	0.14	-23.3614	6.6322	0.22863	0.6952:0.0:0.3048:0.0	.	836;273	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	N	836	ENSP00000282406:K836N	ENSP00000282406:K836N	K	+	3	2	PLEKHH2	43801359	0.999000	0.42202	0.244000	0.24202	0.991000	0.79684	2.671000	0.46842	0.120000	0.18254	-0.140000	0.14226	AAG		0.323	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
PLEKHH2	130271	broad.mit.edu	37	2	43953502	43953502	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:43953502G>A	ENST00000282406.4	+	17	2743	c.2633G>A	c.(2632-2634)cGa>cAa	p.R878Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	878	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.R878Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCAGTGGACGAAGTCTGTTA	0.403																																					p.R878Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2633A	2						.						113.0	106.0	108.0					2																	43953502		2203	4300	6503	43807006	SO:0001583	missense	130271	exon17			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2633G>A	2.37:g.43953502G>A	ENSP00000282406:p.Arg878Gln	Somatic		Capture	Illumina HiSeq	Phase_I	43807006	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106626	0.56291	.	.	ENSG00000152527	ENST00000282406	T	0.73789	-0.78	5.57	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.113257	0.64402	N	0.000009	T	0.72953	0.3525	L	0.52573	1.65	0.45295	D	0.998299	D;B	0.53885	0.963;0.291	P;B	0.50109	0.631;0.033	T	0.69143	-0.5223	10	0.11485	T	0.65	-4.1854	14.089	0.64977	0.0717:0.0:0.9283:0.0	.	878;315	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Q	878	ENSP00000282406:R878Q	ENSP00000282406:R878Q	R	+	2	0	PLEKHH2	43807006	1.000000	0.71417	0.015000	0.15790	0.764000	0.43329	5.115000	0.64655	1.338000	0.45544	0.650000	0.86243	CGA		0.403	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
DYNC2LI1	51626	broad.mit.edu	37	2	44028783	44028783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:44028783C>A	ENST00000260605.8	+	10	837	c.737C>A	c.(736-738)tCa>tAa	p.S246*	DYNC2LI1_ENST00000605786.1_Nonsense_Mutation_p.S247*|DYNC2LI1_ENST00000443170.3_Nonsense_Mutation_p.S120*	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	246					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.S246*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGTAGCAAATCAATATGTGTG	0.348																																					p.S247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C740A	2						.						112.0	109.0	110.0					2																	44028783		2203	4300	6503	43882287	SO:0001587	stop_gained	51626	exon10				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.737C>A	2.37:g.44028783C>A	ENSP00000260605:p.Ser246*	Somatic		Capture	Illumina HiSeq	Phase_I	43882287	NM_001193464	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Nonsense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.325960|8.325960	0.98762|0.98762	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000378587|ENST00000260605;ENST00000443170	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.117163	.|0.64402	.|D	.|0.000015	T|.	0.47377|.	0.1442|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35101|.	-0.9802|.	3|.	.|0.02654	.|T	.|1	-13.7116|-13.7116	19.3333|19.3333	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	230|246;120	.|.	.|ENSP00000260605:S246X	Q|S	+|+	1|2	0|0	DYNC2LI1|DYNC2LI1	43882287|43882287	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	5.111000|5.111000	0.64628|0.64628	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.348	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
SRBD1	55133	broad.mit.edu	37	2	45704191	45704191	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:45704191C>A	ENST00000263736.4	-	16	2052	c.1990G>T	c.(1990-1992)Gat>Tat	p.D664Y	SRBD1_ENST00000535761.1_Missense_Mutation_p.D183Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	664					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.D664Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCTAATGGATCTTGTACACGC	0.338																																					p.D664Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1990T	2						.						120.0	103.0	109.0					2																	45704191		2203	4300	6503	45557695	SO:0001583	missense	55133	exon16			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1990G>T	2.37:g.45704191C>A	ENSP00000263736:p.Asp664Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	45557695	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492840	0.84962	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.54479	0.64;0.57	5.77	5.77	0.91146	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86784	0.1981	10	0.87932	D	0	.	18.9731	0.92722	0.0:1.0:0.0:0.0	.	664	Q8N5C6	SRBD1_HUMAN	Y	664;183	ENSP00000263736:D664Y;ENSP00000441272:D183Y	ENSP00000263736:D664Y	D	-	1	0	SRBD1	45557695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.599000	0.74127	2.720000	0.93068	0.591000	0.81541	GAT		0.338	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
ATP6V1E2	90423	broad.mit.edu	37	2	46739602	46739602	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:46739602G>A	ENST00000306448.4	-	2	1362	c.249C>T	c.(247-249)gtC>gtT	p.V83V	ATP6V1E2_ENST00000522587.1_Silent_p.V83V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	83					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)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.V83V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGGCTCTCAGGACTTTCAGCC	0.502																																					p.V83V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	2						.						135.0	131.0	132.0					2																	46739602		2203	4300	6503	46593106	SO:0001819	synonymous_variant	90423	exon2			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.249C>T	2.37:g.46739602G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46593106	NM_080653		Silent	SNP	ENST00000306448.4	37	CCDS1826.1																																																																																				0.502	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653	
MSH2	4436	broad.mit.edu	37	2	47635577	47635577	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:47635577G>T	ENST00000233146.2	+	2	472	c.249G>T	c.(247-249)atG>atT	p.M83I	MSH2_ENST00000406134.1_Missense_Mutation_p.M83I|MSH2_ENST00000543555.1_Missense_Mutation_p.M17I	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	83					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.M83I(1)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTAGTAAAATGAATTTTGAAT	0.313			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.M83I		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	.	4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	c.G249T	2						.						90.0	93.0	92.0					2																	47635577		2203	4299	6502	47489081	SO:0001583	missense	4436	exon2	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.249G>T	2.37:g.47635577G>T	ENSP00000233146:p.Met83Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47489081	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436803	0.25900	.	.	ENSG00000095002	ENST00000233146;ENST00000454849;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.31	4.41	0.53225	DNA mismatch repair protein MutS-like, N-terminal (1);	0.148904	0.64402	N	0.000019	D	0.88463	0.6443	M	0.68952	2.095	0.54753	D	0.999981	B;B;B	0.31351	0.085;0.32;0.014	B;B;B	0.37387	0.099;0.248;0.029	D	0.87002	0.2117	10	0.56958	D	0.05	-13.9319	11.5677	0.50815	0.0:0.1351:0.7246:0.1403	.	83;83;83	E7EQQ1;E9PHA6;P43246	.;.;MSH2_HUMAN	I	83;17;17;83;83;83;83;83;83	ENSP00000233146:M83I;ENSP00000411482:M17I;ENSP00000442697:M17I;ENSP00000384199:M83I	ENSP00000233146:M83I	M	+	3	0	MSH2	47489081	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	5.611000	0.67674	1.190000	0.43042	0.467000	0.42956	ATG		0.313	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH6	2956	broad.mit.edu	37	2	48023098	48023098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:48023098G>A	ENST00000234420.5	+	3	675	c.523G>A	c.(523-525)Gca>Aca	p.A175T	MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	175					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.A175T(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATACTGAGAGCAATGCAACG	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A175T		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G523A	2						.						78.0	73.0	75.0					2																	48023098		2203	4300	6503	47876602	SO:0001583	missense	2956	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.523G>A	2.37:g.48023098G>A	ENSP00000234420:p.Ala175Thr	Somatic		Capture	Illumina HiSeq	Phase_I	47876602	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100329	0.94245	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	M	0.63843	1.955	0.80722	D	1	D;P	0.56746	0.977;0.611	P;B	0.51516	0.672;0.27	D	0.87909	0.2696	10	0.62326	D	0.03	-19.3482	18.4715	0.90776	0.0:0.0:1.0:0.0	.	175;175	P52701;P52701-2	MSH6_HUMAN;.	T	175;173;175;76;76;76	ENSP00000234420:A175T;ENSP00000397484:A76T;ENSP00000390382:A76T;ENSP00000406248:A76T	ENSP00000234420:A175T	A	+	1	0	MSH6	47876602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.599000	0.87857	0.536000	0.68110	GCA		0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48027887	48027887	+	Missense_Mutation	SNP	G	G	A	rs267608063|rs587779247		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:48027887G>A	ENST00000234420.5	+	4	2917	c.2765G>A	c.(2764-2766)cGa>cAa	p.R922Q	MSH6_ENST00000540021.1_Missense_Mutation_p.R792Q|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R620Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	922					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.R922Q(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAAGGCTCGAAAGACTGGA	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R922Q		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G2765A	2						.						62.0	64.0	63.0					2																	48027887		2203	4300	6503	47881391	SO:0001583	missense	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2765G>A	2.37:g.48027887G>A	ENSP00000234420:p.Arg922Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47881391	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476117	0.63737	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.91180	-2.8;-2.8;-2.8	5.79	3.94	0.45596	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.56199	1.76	0.80722	D	1	P;P;B	0.39601	0.68;0.68;0.211	B;B;B	0.34824	0.19;0.19;0.02	D	0.85020	0.0911	10	0.41790	T	0.15	-8.2813	11.1863	0.48657	0.0666:0.0:0.8059:0.1276	.	792;922;922	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	Q	922;920;792;620	ENSP00000234420:R922Q;ENSP00000446475:R792Q;ENSP00000438580:R620Q	ENSP00000234420:R922Q	R	+	2	0	MSH6	47881391	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	9.835000	0.99442	1.454000	0.47793	0.563000	0.77884	CGA		0.433	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
PPP1R21	129285	broad.mit.edu	37	2	48692655	48692655	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:48692655G>A	ENST00000294952.8	+	9	928	c.771G>A	c.(769-771)ggG>ggA	p.G257G	PPP1R21_ENST00000281394.4_Silent_p.G257G|PPP1R21_ENST00000449090.2_Silent_p.G257G	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	257						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.G257G(1)		endometrium(2)|kidney(4)|lung(9)	15						ATATTGCTGGGCAGGCCCTGG	0.373																																					p.G257G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G771A	2						.						108.0	107.0	108.0					2																	48692655		2203	4300	6503	48546159	SO:0001819	synonymous_variant	129285	exon9			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.771G>A	2.37:g.48692655G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48546159	NM_001135629	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	CCDS46278.1																																																																																				0.373	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994	
GTF2A1L	11036	broad.mit.edu	37	2	48896938	48896938	+	Silent	SNP	C	C	T	rs144474589	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:48896938C>T	ENST00000403751.3	+	7	1093	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S1056S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S1056S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S1056S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S1056S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S1009S|GTF2A1L_ENST00000430487.2_Silent_p.S318S	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	352					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.S1056S(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGATGGAAGCGGTGATACAT	0.368													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16688	0.0		0.0	False		,,,				2504	0.0				p.S352S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056T	2						.	C	,,,,	8,4398	14.3+/-33.2	0,8,2195	109.0	116.0	114.0		954,3168,3027,1056,3168	-8.2	0.1	2	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GTF2A1L,STON1-GTF2A1L	NM_001193487.1,NM_001198593.1,NM_001198594.1,NM_006872.3,NM_172311.2	,,,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,,,	318/445,1056/1159,1009/1136,352/479,1056/1183	48896938	8,12998	2203	4300	6503	48750442	SO:0001819	synonymous_variant	286749	exon7			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1056C>T	2.37:g.48896938C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48750442	NM_006872	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																				0.368	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
NRXN1	9378	broad.mit.edu	37	2	50724817	50724817	+	Missense_Mutation	SNP	G	G	T	rs199784139		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:50724817G>T	ENST00000406316.2	-	14	4009	c.2533C>A	c.(2533-2535)Cat>Aat	p.H845N	NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000401669.2_Missense_Mutation_p.H845N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H845N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.H885N|NRXN1_ENST00000402717.3_Missense_Mutation_p.H837N|NRXN1_ENST00000405472.3_Missense_Mutation_p.H837N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	845	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.H886N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTATGTTATGGAACTCCAGC	0.408																																					p.H885N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2653A	2						.						84.0	78.0	80.0					2																	50724817		1912	4125	6037	50578321	SO:0001583	missense	9378	exon15			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2533C>A	2.37:g.50724817G>T	ENSP00000384311:p.His845Asn	Somatic		Capture	Illumina HiSeq	Phase_I	50578321	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849521	0.71603	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	N	0.11106	0.095	0.51012	D	0.9999	B;D;D	0.57257	0.047;0.979;0.979	B;D;D	0.70935	0.195;0.933;0.971	T	0.76460	-0.2951	10	0.34782	T	0.22	.	20.434	0.99088	0.0:0.0:1.0:0.0	.	885;845;837	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	885;845;837;845;886;837;845	ENSP00000385142:H885N;ENSP00000384311:H845N;ENSP00000434015:H837N;ENSP00000385017:H845N;ENSP00000385434:H837N;ENSP00000385681:H845N	ENSP00000385017:H845N	H	-	1	0	NRXN1	50578321	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.624000	0.98398	2.838000	0.97847	0.561000	0.74099	CAT		0.408	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
CCDC88A	55704	broad.mit.edu	37	2	55539598	55539598	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:55539598G>T	ENST00000436346.1	-	23	4892	c.4051C>A	c.(4051-4053)Ctt>Att	p.L1351I	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000366287.4_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1350I|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1351I|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1350I	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1351					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.L1351I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACATGAAAAAGATCCTTGCTT	0.348																																					p.L1350I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4048A	2						.						205.0	189.0	195.0					2																	55539598		2202	4298	6500	55393102	SO:0001583	missense	55704	exon23			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4051C>A	2.37:g.55539598G>T	ENSP00000410608:p.Leu1351Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55393102	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.736055|4.736055	0.89482|0.89482	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29;0.29;0.29|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.42821|.	U|.	0.000660|.	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;P;D;D|.	0.76494|.	0.974;0.999;0.999;0.945;0.999;0.998|.	P;D;D;P;D;D|.	0.79784|.	0.78;0.993;0.937;0.719;0.972;0.957|.	T|T	0.71721|0.71721	-0.4507|-0.4507	10|5	0.22706|.	T|.	0.39|.	-6.3029|-6.3029	19.1015|19.1015	0.93276|0.93276	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1350;1351;1296;1351;1350;1350|.	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;GRDN_HUMAN;.;.|.	I|Y	1350;1351;1351;396;1350;526|331	ENSP00000338728:L1350I;ENSP00000263630:L1351I;ENSP00000410608:L1351I;ENSP00000390012:L396I;ENSP00000404431:L1350I;ENSP00000405080:L526I|.	ENSP00000263630:L1351I|.	L|S	-|-	1|2	0|0	CCDC88A|CCDC88A	55393102|55393102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CCDC88A	55704	broad.mit.edu	37	2	55559797	55559797	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:55559797C>A	ENST00000436346.1	-	16	3601	c.2760G>T	c.(2758-2760)caG>caT	p.Q920H	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q920H|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q920H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q920H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	920					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.Q920H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATTGTTCATCTGTTGGGTCT	0.358																																					p.Q920H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2760T	2						.						154.0	148.0	150.0					2																	55559797		2202	4299	6501	55413301	SO:0001583	missense	55704	exon16			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2760G>T	2.37:g.55559797C>A	ENSP00000410608:p.Gln920His	Somatic		Capture	Illumina HiSeq	Phase_I	55413301	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	C	19.02	3.746063	0.69418	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.37584	2.23;2.47;2.44;2.26;1.19	5.61	3.17	0.36434	.	0.000000	0.46442	U	0.000282	T	0.53867	0.1823	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.99;0.994;0.99;0.999;0.997	T	0.51576	-0.8688	10	0.72032	D	0.01	-18.2197	8.8629	0.35269	0.0:0.398:0.0:0.602	.	920;920;920;920;920	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	H	920;920;920;920;95	ENSP00000338728:Q920H;ENSP00000263630:Q920H;ENSP00000410608:Q920H;ENSP00000404431:Q920H;ENSP00000405080:Q95H	ENSP00000263630:Q920H	Q	-	3	2	CCDC88A	55413301	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.149000	0.42244	0.381000	0.24851	0.455000	0.32223	CAG		0.358	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
REL	5966	broad.mit.edu	37	2	61128173	61128173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:61128173G>T	ENST00000295025.8	+	4	669	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	REL_ENST00000394479.3_Nonsense_Mutation_p.E117*	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	117	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E117*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGAAGTAAAAGAAGCTATTAT	0.289			A		Hodgkin Lymphoma																																p.E117X			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G349T	2						.						67.0	66.0	66.0					2																	61128173		2203	4299	6502	60981677	SO:0001587	stop_gained	5966	exon4			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.349G>T	2.37:g.61128173G>T	ENSP00000295025:p.Glu117*	Somatic		Capture	Illumina HiSeq	Phase_I	60981677	NM_002908	Q17RU2|Q2PNZ7|Q6LDY0	Nonsense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	38	6.879040	0.97904	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.95	5.95	0.96441	.	0.093712	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-35.0923	19.3813	0.94536	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000295025:E117X	E	+	1	0	REL	60981677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.967000	0.93402	2.824000	0.97209	0.655000	0.94253	GAA		0.289	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908	
PUS10	150962	broad.mit.edu	37	2	61236063	61236063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:61236063G>A	ENST00000316752.6	-	3	475	c.214C>T	c.(214-216)Cga>Tga	p.R72*	PUS10_ENST00000407787.1_Nonsense_Mutation_p.R72*	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	72					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R72*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCTTGCAGTCGAATTTTCTTG	0.368																																					p.R72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C214T	2						.						69.0	68.0	68.0					2																	61236063		2203	4299	6502	61089567	SO:0001587	stop_gained	150962	exon3			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.214C>T	2.37:g.61236063G>A	ENSP00000326003:p.Arg72*	Somatic		Capture	Illumina HiSeq	Phase_I	61089567	NM_144709	Q5JPJ5|Q96MI8	Nonsense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928214	0.73327	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319	.	.	.	5.58	3.68	0.42216	.	0.141199	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8059	10.8583	0.46812	0.0:0.0:0.6563:0.3437	.	.	.	.	X	72	.	ENSP00000326003:R72X	R	-	1	2	PUS10	61089567	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.649000	0.37281	0.647000	0.30713	0.586000	0.80456	CGA		0.368	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
USP34	9736	broad.mit.edu	37	2	61416049	61416049	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:61416049A>C	ENST00000398571.2	-	79	10105	c.10029T>G	c.(10027-10029)acT>acG	p.T3343T	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3343					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.T3343T(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)			GCTAACCTTTAGTTTTTCTTT	0.418																																					p.T3343T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T10029G	2						.						130.0	117.0	121.0					2																	61416049		1856	4108	5964	61269553	SO:0001819	synonymous_variant	9736	exon79			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.10029T>G	2.37:g.61416049A>C		Somatic		Capture	Illumina HiSeq	Phase_I	61269553	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	4.117	0.019801	0.08006	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.79	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3034	0.60338	0.8682:0.1318:0.0:0.0	.	.	.	.	E	1020	.	.	X	-	1	0	USP34	61269553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.279000	0.51670	0.989000	0.38761	0.477000	0.44152	TAA		0.418	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61416183	61416183	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:61416183G>A	ENST00000398571.2	-	79	9971	c.9895C>T	c.(9895-9897)Ctc>Ttc	p.L3299F	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3299					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.L3299F(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)			ACTGACAGGAGCAAAGCGAGT	0.423																																					p.L3299F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9895T	2						.						124.0	112.0	116.0					2																	61416183		1851	4092	5943	61269687	SO:0001583	missense	9736	exon79			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.9895C>T	2.37:g.61416183G>A	ENSP00000381577:p.Leu3299Phe	Somatic		Capture	Illumina HiSeq	Phase_I	61269687	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.60|16.60	3.168627|3.168627	0.57584|0.57584	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.71934	.|-0.61	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64832|0.64832	0.2634|0.2634	L|L	0.36672|0.36672	1.1|1.1	0.54753|0.54753	D|D	0.999985|0.999985	.|P	.|0.41313	.|0.745	.|B	.|0.37346	.|0.247	T|T	0.68969|0.68969	-0.5269|-0.5269	5|10	.|0.62326	.|D	.|0.03	.|.	19.7618|19.7618	0.96321|0.96321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3299	.|Q70CQ2	.|UBP34_HUMAN	V|F	975|3147;3064;3299;177	.|ENSP00000381577:L3299F	.|ENSP00000263989:L3147F	A|L	-|-	2|1	0|0	USP34|USP34	61269687|61269687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.382000|4.382000	0.59594|0.59594	2.652000|2.652000	0.90054|0.90054	0.585000|0.585000	0.79938|0.79938	GCT|CTC		0.423	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61546367	61546367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:61546367G>A	ENST00000398571.2	-	22	3185	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1037					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.R1037*(3)		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)			TCTTTACTTCGAACTTGATTT	0.333																																					p.R1037X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3109T	2						.						125.0	115.0	118.0					2																	61546367		1862	4089	5951	61399871	SO:0001587	stop_gained	9736	exon22			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.3109C>T	2.37:g.61546367G>A	ENSP00000381577:p.Arg1037*	Somatic		Capture	Illumina HiSeq	Phase_I	61399871	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	43	9.842842	0.99277	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;1037	.	ENSP00000263989:R885X	R	-	1	2	USP34	61399871	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.519000	0.73768	2.738000	0.93877	0.591000	0.81541	CGA		0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61566564	61566564	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:61566564G>A	ENST00000398571.2	-	18	2742	c.2666C>T	c.(2665-2667)tCg>tTg	p.S889L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	889					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.S889L(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)			ACATACTAACGAACAAAGAAG	0.289																																					p.S889L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2666T	2						.						78.0	70.0	73.0					2																	61566564		1796	4061	5857	61420068	SO:0001583	missense	9736	exon18			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.2666C>T	2.37:g.61566564G>A	ENSP00000381577:p.Ser889Leu	Somatic		Capture	Illumina HiSeq	Phase_I	61420068	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507126	0.96386	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03772	3.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.40543	1.245	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.00699	-1.1604	10	0.41790	T	0.15	.	19.8093	0.96541	0.0:0.0:1.0:0.0	.	889	Q70CQ2	UBP34_HUMAN	L	737;737;889	ENSP00000381577:S889L	ENSP00000263989:S737L	S	-	2	0	USP34	61420068	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.869000	0.99810	2.688000	0.91661	0.460000	0.39030	TCG		0.289	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
FAM161A	84140	broad.mit.edu	37	2	62067344	62067344	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:62067344T>C	ENST00000405894.3	-	3	896	c.795A>G	c.(793-795)gtA>gtG	p.V265V	FAM161A_ENST00000404929.1_Silent_p.V265V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	265					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.V156V(1)|p.V265V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGCTTTATGTACCATTTCGA	0.398																																					p.V265V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A795G	2						.						194.0	172.0	179.0					2																	62067344		1825	4081	5906	61920848	SO:0001819	synonymous_variant	84140	exon3				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.795A>G	2.37:g.62067344T>C		Somatic		Capture	Illumina HiSeq	Phase_I	61920848	NM_032180	B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	CCDS42687.2																																																																																				0.398	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
EHBP1	23301	broad.mit.edu	37	2	63272233	63272233	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:63272233G>A	ENST00000263991.5	+	24	4005	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	EHBP1_ENST00000405289.1_Missense_Mutation_p.E1140K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E1104K|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000354487.3_Missense_Mutation_p.E1140K|EHBP1_ENST00000496857.1_3'UTR|AC009501.4_ENST00000412297.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.E1104K|AC009501.4_ENST00000413549.1_RNA|AC009501.4_ENST00000437346.1_RNA	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1175						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E1175K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAGCGACGCGAACAGCTTCT	0.662																																					p.E1140K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3418A	2						.						23.0	21.0	22.0					2																	63272233		2197	4293	6490	63125737	SO:0001583	missense	23301	exon22			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3523G>A	2.37:g.63272233G>A	ENSP00000263991:p.Glu1175Lys	Somatic		Capture	Illumina HiSeq	Phase_I	63125737	NM_001142614	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941634	0.92526	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.87	5.87	0.94306	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	D	0.87048	0.2145	10	0.87932	D	0	.	19.8183	0.96579	0.0:0.0:1.0:0.0	.	1140;1104;1175	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	K	1104;1104;1175;1140;1140;146	ENSP00000384143:E1104K;ENSP00000403783:E1104K;ENSP00000263991:E1175K;ENSP00000346482:E1140K;ENSP00000385524:E1140K	ENSP00000263991:E1175K	E	+	1	0	EHBP1	63125737	1.000000	0.71417	0.989000	0.46669	0.747000	0.42532	9.230000	0.95299	2.781000	0.95711	0.655000	0.94253	GAA		0.662	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252	
UGP2	7360	broad.mit.edu	37	2	64109749	64109749	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:64109749G>A	ENST00000337130.5	+	4	881	c.405G>A	c.(403-405)gaG>gaA	p.E135E	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000394417.2_Silent_p.E124E|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Silent_p.E144E|UGP2_ENST00000467648.2_Silent_p.E124E	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	135					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.E135E(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TGAGGAATGAGAATACCTTTC	0.388																																					p.E124E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	2						.						141.0	143.0	142.0					2																	64109749		2203	4300	6503	63963253	SO:0001819	synonymous_variant	7360	exon4				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.405G>A	2.37:g.64109749G>A		Somatic		Capture	Illumina HiSeq	Phase_I	63963253	NM_001001521	Q07131|Q0P6K2|Q86Y81|Q9BU15	Silent	SNP	ENST00000337130.5	37	CCDS1875.1																																																																																				0.388	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
VPS54	51542	broad.mit.edu	37	2	64120587	64120587	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:64120587C>T	ENST00000272322.4	-	23	3065	c.2911G>A	c.(2911-2913)Gaa>Aaa	p.E971K	VPS54_ENST00000354504.3_Missense_Mutation_p.E818K|VPS54_ENST00000409558.4_Missense_Mutation_p.E959K			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	971					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.E971K(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCCCAAATTTCGGCCATATTT	0.403																																					p.E971K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2911A	2						.						167.0	174.0	171.0					2																	64120587		2203	4300	6503	63974091	SO:0001583	missense	51542	exon23			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2911G>A	2.37:g.64120587C>T	ENSP00000272322:p.Glu971Lys	Somatic		Capture	Illumina HiSeq	Phase_I	63974091	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519934	0.96416	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277	T;T;T	0.36520	1.25;1.28;1.28	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	L	0.53249	1.67	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	P;P;P	0.55303	0.596;0.597;0.773	T	0.24548	-1.0157	10	0.23302	T	0.38	.	19.6	0.95557	0.0:1.0:0.0:0.0	.	818;971;959	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	K	818;971;959;959	ENSP00000346499:E818K;ENSP00000272322:E971K;ENSP00000386980:E959K	ENSP00000272322:E971K	E	-	1	0	VPS54	63974091	1.000000	0.71417	0.956000	0.39512	0.942000	0.58702	7.487000	0.81328	2.637000	0.89404	0.591000	0.81541	GAA		0.403	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
VPS54	51542	broad.mit.edu	37	2	64160996	64160996	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:64160996A>C	ENST00000272322.4	-	12	1704	c.1550T>G	c.(1549-1551)tTt>tGt	p.F517C	VPS54_ENST00000354504.3_Missense_Mutation_p.F364C|VPS54_ENST00000409558.4_Missense_Mutation_p.F505C			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	517					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.F517C(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATCACTTATAAACATGCCTTC	0.418																																					p.F517C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1550G	2						.						169.0	137.0	148.0					2																	64160996		2203	4300	6503	64014500	SO:0001583	missense	51542	exon12			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1550T>G	2.37:g.64160996A>C	ENSP00000272322:p.Phe517Cys	Somatic		Capture	Illumina HiSeq	Phase_I	64014500	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816242	0.70912	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.38077	1.16;1.16;1.18	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.974;0.989	T	0.55496	-0.8132	10	0.45353	T	0.12	.	14.9443	0.71016	1.0:0.0:0.0:0.0	.	364;517;505	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	C	364;517;505;505;517	ENSP00000346499:F364C;ENSP00000272322:F517C;ENSP00000386980:F505C	ENSP00000272322:F517C	F	-	2	0	VPS54	64014500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.113000	0.77095	1.990000	0.58119	0.460000	0.39030	TTT		0.418	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
AFTPH	54812	broad.mit.edu	37	2	64780114	64780114	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:64780114G>T	ENST00000422803.1	+	2	1820	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	AFTPH_ENST00000238856.4_Missense_Mutation_p.Q502H|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Missense_Mutation_p.Q502H|AFTPH_ENST00000409183.1_Missense_Mutation_p.Q133H|AFTPH_ENST00000409933.1_Missense_Mutation_p.Q502H			Q6ULP2	AFTIN_HUMAN	aftiphilin	502					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.Q502H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACCTAAAACAGACTTCTGATA	0.373																																					p.Q502H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1506T	2						.						83.0	87.0	85.0					2																	64780114		2203	4300	6503	64633618	SO:0001583	missense	54812	exon2			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1506G>T	2.37:g.64780114G>T	ENSP00000397726:p.Gln502His	Somatic		Capture	Illumina HiSeq	Phase_I	64633618	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	12.18	1.860757	0.32884	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.51325	1.72;1.73;1.74;1.74;0.71	5.76	0.821	0.18799	.	0.341910	0.29767	N	0.011243	T	0.58278	0.2111	M	0.64997	1.995	0.35431	D	0.794011	D;D;D;D	0.71674	0.994;0.994;0.998;0.998	P;P;D;D	0.80764	0.874;0.874;0.994;0.994	T	0.63010	-0.6732	10	0.87932	D	0	-0.0075	6.0329	0.19690	0.3177:0.0:0.5668:0.1155	.	502;502;502;502	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	H	502;502;502;502;133	ENSP00000238856:Q502H;ENSP00000397726:Q502H;ENSP00000238855:Q502H;ENSP00000387071:Q502H;ENSP00000386913:Q133H	ENSP00000238855:Q502H	Q	+	3	2	AFTPH	64633618	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	1.054000	0.30455	-0.055000	0.13244	0.650000	0.86243	CAG		0.373	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
MEIS1	4211	broad.mit.edu	37	2	66796185	66796185	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:66796185C>A	ENST00000272369.9	+	12	1575	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000398506.2_Intron|MEIS1_ENST00000495021.2_Missense_Mutation_p.P308H|MEIS1_ENST00000407092.2_Intron|MEIS1_ENST00000444274.2_Intron	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	373	Required for transcriptional activation. {ECO:0000250}.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.P373H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTTCTAGGACCTATGAGTGGA	0.438																																					p.P373H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118A	2						.						228.0	208.0	215.0					2																	66796185		1865	4103	5968	66649689	SO:0001583	missense	4211	exon12				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.1118C>A	2.37:g.66796185C>A	ENSP00000272369:p.Pro373His	Somatic		Capture	Illumina HiSeq	Phase_I	66649689	NM_002398	A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106559	0.56291	.	.	ENSG00000143995	ENST00000272369;ENST00000495021;ENST00000402908;ENST00000409517	D;D;D	0.92446	-2.07;-2.06;-3.04	6.07	6.07	0.98685	.	0.351394	0.32836	N	0.005598	D	0.94089	0.8105	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.62740	0.849;0.906	D	0.90467	0.4450	10	0.15066	T	0.55	.	20.6512	0.99593	0.0:1.0:0.0:0.0	.	308;373	F5GYS8;O00470	.;MEIS1_HUMAN	H	373;308;229;123	ENSP00000272369:P373H;ENSP00000440571:P308H;ENSP00000386708:P123H	ENSP00000272369:P373H	P	+	2	0	MEIS1	66649689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CCT		0.438	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	
ETAA1	54465	broad.mit.edu	37	2	67626422	67626422	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:67626422G>T	ENST00000272342.5	+	2	475	c.345G>T	c.(343-345)aaG>aaT	p.K115N		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	115						cytoplasm (GO:0005737)		p.K115N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CATTGACAAAGCAGTTAGGTA	0.338																																					p.K115N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G345T	2						.						58.0	56.0	56.0					2																	67626422		2203	4300	6503	67479926	SO:0001583	missense	54465	exon2			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.345G>T	2.37:g.67626422G>T	ENSP00000272342:p.Lys115Asn	Somatic		Capture	Illumina HiSeq	Phase_I	67479926	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082483	0.55861	.	.	ENSG00000143971	ENST00000272342	T	0.22945	1.93	5.12	-3.66	0.04489	.	0.482604	0.23096	N	0.051972	T	0.32194	0.0821	M	0.62723	1.935	0.25035	N	0.99125	D	0.76494	0.999	D	0.66351	0.943	T	0.22521	-1.0214	10	0.23891	T	0.37	-14.6959	4.315	0.10988	0.1815:0.1082:0.5242:0.1862	.	115	Q9NY74	ETAA1_HUMAN	N	115	ENSP00000272342:K115N	ENSP00000272342:K115N	K	+	3	2	ETAA1	67479926	0.994000	0.37717	0.995000	0.50966	0.997000	0.91878	0.226000	0.17776	-0.221000	0.09973	0.650000	0.86243	AAG		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
PROKR1	10887	broad.mit.edu	37	2	68882107	68882107	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:68882107C>T	ENST00000303786.3	+	3	1001	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A194V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	194					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A194V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCCTGATCGCCATCCCTTCC	0.572																																					p.A194V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C581T	2						.						173.0	145.0	154.0					2																	68882107		2203	4300	6503	68735611	SO:0001583	missense	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.581C>T	2.37:g.68882107C>T	ENSP00000303775:p.Ala194Val	Somatic		Capture	Illumina HiSeq	Phase_I	68735611	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048967	0.93740	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.39997	1.05;1.05	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.048245	0.85682	D	0.000000	T	0.51770	0.1694	L	0.60904	1.88	0.53688	D	0.999979	P	0.41978	0.767	P	0.50440	0.641	T	0.48103	-0.9064	10	0.44086	T	0.13	.	15.6978	0.77515	0.0:1.0:0.0:0.0	.	194	Q8TCW9	PKR1_HUMAN	V	194	ENSP00000303775:A194V;ENSP00000377874:A194V	ENSP00000303775:A194V	A	+	2	0	PROKR1	68735611	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.374000	0.79633	2.828000	0.97474	0.655000	0.94253	GCC		0.572	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
PROKR1	10887	broad.mit.edu	37	2	68882255	68882255	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:68882255C>T	ENST00000303786.3	+	3	1149	c.729C>T	c.(727-729)ggC>ggT	p.G243G	PROKR1_ENST00000394342.2_Silent_p.G243G			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	243					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.G243G(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AATTCGTGGGCCCCGTGGTCA	0.562																																					p.G243G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729T	2						.						96.0	93.0	94.0					2																	68882255		2203	4300	6503	68735759	SO:0001819	synonymous_variant	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.729C>T	2.37:g.68882255C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68735759	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	CCDS1889.1																																																																																				0.562	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
ARHGAP25	9938	broad.mit.edu	37	2	69009403	69009403	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:69009403C>T	ENST00000295381.3	+	3	719	c.300C>T	c.(298-300)atC>atT	p.I100I	ARHGAP25_ENST00000544262.1_Silent_p.I74I|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Silent_p.I100I|ARHGAP25_ENST00000497079.1_Silent_p.I93I|ARHGAP25_ENST00000409030.3_Silent_p.I93I|ARHGAP25_ENST00000467265.1_Silent_p.I100I|ARHGAP25_ENST00000409220.1_Silent_p.I93I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	100	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.I93I(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCAAGGAGATCGCCACAAACC	0.428																																					p.I93I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	2						.						103.0	110.0	108.0					2																	69009403		2203	4300	6503	68862907	SO:0001819	synonymous_variant	9938	exon2			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.300C>T	2.37:g.69009403C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68862907	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37																																																																																					0.428	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
BMP10	27302	broad.mit.edu	37	2	69093214	69093214	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:69093214G>T	ENST00000295379.1	-	2	982	c.824C>A	c.(823-825)tCc>tAc	p.S275Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	275					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.S275Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGCTCATGGGAAATCATTTC	0.463																																					p.S275Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824A	2						.						130.0	111.0	118.0					2																	69093214		2203	4300	6503	68946718	SO:0001583	missense	27302	exon2			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.824C>A	2.37:g.69093214G>T	ENSP00000295379:p.Ser275Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	68946718	NM_014482	Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038271	0.19669	.	.	ENSG00000163217	ENST00000295379	T	0.74947	-0.89	6.07	5.12	0.69794	.	0.751258	0.13916	N	0.353917	T	0.59756	0.2217	N	0.14661	0.345	0.09310	N	1	B	0.29508	0.246	B	0.26416	0.069	T	0.55811	-0.8082	10	0.54805	T	0.06	.	13.8457	0.63466	0.0:0.0:0.7938:0.2062	.	275	O95393	BMP10_HUMAN	Y	275	ENSP00000295379:S275Y	ENSP00000295379:S275Y	S	-	2	0	BMP10	68946718	0.138000	0.22547	0.335000	0.25508	0.515000	0.34225	2.478000	0.45189	2.884000	0.98904	0.655000	0.94253	TCC		0.463	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482	
ANTXR1	84168	broad.mit.edu	37	2	69300212	69300212	+	Silent	SNP	C	C	A	rs200355895		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:69300212C>A	ENST00000303714.4	+	6	793	c.471C>A	c.(469-471)ctC>ctA	p.L157L	ANTXR1_ENST00000409349.3_Silent_p.L157L|ANTXR1_ENST00000409829.3_Silent_p.L157L	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	157	Interaction with PA.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.L157L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGAAGATCTCTTTTTCTATT	0.478									Familial Infantile Hemangioma																												p.L157L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471A	2						.						196.0	181.0	186.0					2																	69300212		2203	4300	6503	69153716	SO:0001819	synonymous_variant	84168	exon6	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.471C>A	2.37:g.69300212C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69153716	NM_053034	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	CCDS1892.1																																																																																				0.478	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	
AAK1	22848	broad.mit.edu	37	2	69736572	69736572	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:69736572T>C	ENST00000409085.4	-	14	2173	c.1797A>G	c.(1795-1797)caA>caG	p.Q599Q	AAK1_ENST00000406297.3_Silent_p.Q599Q|AAK1_ENST00000409068.1_Silent_p.Q599Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	599	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.Q599Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCTTTGGCTGTTGTCTTACTG	0.453																																					p.Q599Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1797G	2						.						58.0	58.0	58.0					2																	69736572		1891	4110	6001	69590076	SO:0001819	synonymous_variant	22848	exon14			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1797A>G	2.37:g.69736572T>C		Somatic		Capture	Illumina HiSeq	Phase_I	69590076	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																				0.453	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
ANXA4	307	broad.mit.edu	37	2	70045782	70045782	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:70045782A>C	ENST00000394295.4	+	10	928	c.680A>C	c.(679-681)aAa>aCa	p.K227T	ANXA4_ENST00000536030.1_Missense_Mutation_p.K143T|ANXA4_ENST00000409920.1_Missense_Mutation_p.K205T	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	225					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.K227T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGAGTATTAAATCTGAAACA	0.343																																					p.K227T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A680C	2						.						112.0	113.0	112.0					2																	70045782		2203	4299	6502	69899286	SO:0001583	missense	307	exon10			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.680A>C	2.37:g.70045782A>C	ENSP00000377833:p.Lys227Thr	Somatic		Capture	Illumina HiSeq	Phase_I	69899286	NM_001153	B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.641387	0.87859	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.04194	3.68;3.68;3.68	5.98	5.98	0.97165	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	M	0.71206	2.165	0.80722	D	1	P;B;P	0.46327	0.876;0.146;0.876	P;B;P	0.57548	0.823;0.099;0.823	T	0.00133	-1.2010	9	.	.	.	.	14.4248	0.67207	1.0:0.0:0.0:0.0	.	225;205;227	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	T	205;227;143	ENSP00000386756:K205T;ENSP00000377833:K227T;ENSP00000441931:K143T	.	K	+	2	0	ANXA4	69899286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.296000	0.77279	0.482000	0.46254	AAA		0.343	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153	
ADD2	119	broad.mit.edu	37	2	70933508	70933508	+	Silent	SNP	C	C	T	rs369382641		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:70933508C>T	ENST00000264436.4	-	3	477	c.33G>A	c.(31-33)tcG>tcA	p.S11S	ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000413157.2_Silent_p.S11S|ADD2_ENST00000430656.1_Silent_p.S27S|ADD2_ENST00000355733.3_Silent_p.S11S|ADD2_ENST00000407644.2_Silent_p.S11S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	11					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S11S(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGGCGGCGGCGAGGCAGCCT	0.642																																					p.S11S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G33A	2						.						43.0	47.0	46.0					2																	70933508		2202	4300	6502	70787016	SO:0001819	synonymous_variant	119	exon3			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.33G>A	2.37:g.70933508C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70787016	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
ZNF638	27332	broad.mit.edu	37	2	71654130	71654130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:71654130G>T	ENST00000409544.1	+	24	5761	c.5131G>T	c.(5131-5133)Gaa>Taa	p.E1711*	ZNF638_ENST00000264447.4_Nonsense_Mutation_p.E1711*|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Nonsense_Mutation_p.E651*	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1711					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1711*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TAAAGGAAATGAAGGAGATAC	0.408																																					p.E1711X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5131T	2						.						136.0	139.0	138.0					2																	71654130		2203	4300	6503	71507638	SO:0001587	stop_gained	27332	exon24			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5131G>T	2.37:g.71654130G>T	ENSP00000386433:p.Glu1711*	Somatic		Capture	Illumina HiSeq	Phase_I	71507638	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Nonsense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	50	16.856163	0.99873	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	.	.	.	5.85	4.96	0.65561	.	0.117947	0.38164	N	0.001797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-11.1856	11.8118	0.52188	0.0858:0.0:0.9142:0.0	.	.	.	.	X	1711;1711;651	.	ENSP00000264447:E1711X	E	+	1	0	ZNF638	71507638	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.143000	0.42187	1.457000	0.47850	0.655000	0.94253	GAA		0.408	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
DYSF	8291	broad.mit.edu	37	2	71906239	71906239	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:71906239G>T	ENST00000258104.3	+	52	6097	c.5820G>T	c.(5818-5820)aaG>aaT	p.K1940N	DYSF_ENST00000429174.2_Missense_Mutation_p.K1961N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.K1957N|DYSF_ENST00000410041.1_Missense_Mutation_p.K1958N|DYSF_ENST00000409582.3_Missense_Mutation_p.K1978N|DYSF_ENST00000413539.2_Missense_Mutation_p.K1971N|DYSF_ENST00000409366.1_Missense_Mutation_p.K1962N|DYSF_ENST00000409744.1_Missense_Mutation_p.K1948N|DYSF_ENST00000394120.2_Missense_Mutation_p.K1941N|DYSF_ENST00000410020.3_Missense_Mutation_p.K1979N|DYSF_ENST00000409651.1_Missense_Mutation_p.K1972N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1940					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.K1940N(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGACAGCCAAGAAGTGCTCCT	0.542																																					p.K1972N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5916T	2						.						137.0	124.0	129.0					2																	71906239		2203	4300	6503	71759747	SO:0001583	missense	8291	exon53			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5820G>T	2.37:g.71906239G>T	ENSP00000258104:p.Lys1940Asn	Somatic		Capture	Illumina HiSeq	Phase_I	71759747	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714445	0.48622	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.81;-1.82;-1.82;-1.82;-1.81;-1.81;-1.82;-1.82	5.28	3.49	0.39957	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.221694	0.48767	D	0.000171	T	0.77294	0.4109	L	0.33624	1.015	0.20074	N	0.999933	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.14012	0.005;0.002;0.002;0.002;0.002;0.009;0.0;0.009;0.001;0.002;0.007;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21917	0.017;0.001;0.002;0.002;0.002;0.02;0.009;0.02;0.009;0.002;0.037;0.015;0.001;0.002;0.001	T	0.66744	-0.5846	10	0.48119	T	0.1	-19.9552	10.0043	0.41949	0.1662:0.0:0.8338:0.0	.	704;1972;1979;1962;1927;1958;1948;1957;1947;1971;1978;1961;1926;1941;1940	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1971;1957;1978;1961;1940;1972;1941;1948;1962;1979;1958	ENSP00000407046:K1971N;ENSP00000387137:K1957N;ENSP00000386547:K1978N;ENSP00000398305:K1961N;ENSP00000258104:K1940N;ENSP00000386683:K1972N;ENSP00000377678:K1941N;ENSP00000386285:K1948N;ENSP00000386512:K1962N;ENSP00000386881:K1979N;ENSP00000386617:K1958N	ENSP00000258104:K1940N	K	+	3	2	DYSF	71759747	1.000000	0.71417	0.970000	0.41538	0.880000	0.50808	3.002000	0.49496	0.743000	0.32719	-0.143000	0.13931	AAG		0.542	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
EXOC6B	23233	broad.mit.edu	37	2	72707844	72707844	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:72707844C>A	ENST00000272427.6	-	17	1831	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E567D	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	567					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.E104D(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TACAGGATTTCTCCAAATGTG	0.368																																					p.E567D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1701T	2						.						66.0	67.0	66.0					2																	72707844		1866	4102	5968	72561352	SO:0001583	missense	23233	exon17			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1701G>T	2.37:g.72707844C>A	ENSP00000272427:p.Glu567Asp	Somatic		Capture	Illumina HiSeq	Phase_I	72561352	NM_015189	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324775	0.81580	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.36340	1.26;1.26	4.97	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.979;1.0	D;D	0.85130	0.973;0.997	T	0.66964	-0.5790	10	0.51188	T	0.08	.	10.8981	0.47034	0.0:0.9061:0.0:0.0939	.	567;567	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	D	567	ENSP00000272427:E567D;ENSP00000386698:E567D	ENSP00000272427:E567D	E	-	3	2	EXOC6B	72561352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.949000	0.56668	1.078000	0.41014	0.609000	0.83330	GAG		0.368	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570	
ALMS1	7840	broad.mit.edu	37	2	73675233	73675233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:73675233G>T	ENST00000264448.6	+	8	1687	c.1576G>T	c.(1576-1578)Gaa>Taa	p.E526*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.E526*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E484*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	526					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E526*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGTTCTCTAGAAACTACTAC	0.428																																					p.E526X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1576T	2						.						104.0	90.0	95.0					2																	73675233		1908	4107	6015	73528741	SO:0001587	stop_gained	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1576G>T	2.37:g.73675233G>T	ENSP00000264448:p.Glu526*	Somatic		Capture	Illumina HiSeq	Phase_I	73528741	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972800	0.74246	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	3.76	0.89	0.19218	.	1.758590	0.03622	N	0.236498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.9433	0.19205	0.1176:0.4498:0.4326:0.0	.	.	.	.	X	484;526;526	.	ENSP00000264448:E526X	E	+	1	0	ALMS1	73528741	0.026000	0.19158	0.000000	0.03702	0.005000	0.04900	1.236000	0.32683	0.178000	0.19917	-0.175000	0.13238	GAA		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73679923	73679923	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:73679923C>A	ENST00000264448.6	+	8	6377	c.6266C>A	c.(6265-6267)tCt>tAt	p.S2089Y	ALMS1_ENST00000377715.1_Missense_Mutation_p.S2089Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2047Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2089	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S2089Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAACCAGTATCTCTCTCTAGT	0.373																																					p.S2089Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6266A	2						.						31.0	31.0	31.0					2																	73679923		1836	4075	5911	73533431	SO:0001583	missense	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6266C>A	2.37:g.73679923C>A	ENSP00000264448:p.Ser2089Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	73533431	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440983	0.25900	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15256	3.33;3.33;2.44	4.22	2.36	0.29203	.	1.328500	0.05330	N	0.528159	T	0.16128	0.0388	N	0.14661	0.345	0.09310	N	1	D;D;D	0.57257	0.979;0.963;0.963	P;P;P	0.50708	0.648;0.648;0.648	T	0.20472	-1.0274	10	0.87932	D	0	.	5.2337	0.15436	0.0:0.6742:0.211:0.1148	.	2089;2047;2089	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	2047;2089;2089	ENSP00000386627:S2047Y;ENSP00000264448:S2089Y;ENSP00000366944:S2089Y	ENSP00000264448:S2089Y	S	+	2	0	ALMS1	73533431	0.142000	0.22610	0.002000	0.10522	0.401000	0.30781	0.467000	0.22035	0.673000	0.31224	0.650000	0.86243	TCT		0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73717478	73717478	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:73717478T>G	ENST00000264448.6	+	10	8500	c.8389T>G	c.(8389-8391)Tta>Gta	p.L2797V	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.L2755V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2797					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L2797V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGCCAAAAATTACCTGTTGA	0.363																																					p.L2797V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8389G	2						.						58.0	56.0	57.0					2																	73717478		1813	4074	5887	73570986	SO:0001583	missense	7840	exon10			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8389T>G	2.37:g.73717478T>G	ENSP00000264448:p.Leu2797Val	Somatic		Capture	Illumina HiSeq	Phase_I	73570986	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.097176	0.56075	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08102	3.13;3.13	4.54	3.4	0.38934	.	0.213498	0.24018	N	0.042319	T	0.16428	0.0395	L	0.48642	1.525	0.58432	D	0.999999	D;D;D	0.60160	0.987;0.987;0.987	D;P;P	0.62955	0.909;0.854;0.854	T	0.00939	-1.1507	10	0.66056	D	0.02	.	6.8224	0.23864	0.0:0.1025:0.0:0.8975	.	2797;2755;2797	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2755;2797	ENSP00000386627:L2755V;ENSP00000264448:L2797V	ENSP00000264448:L2797V	L	+	1	2	ALMS1	73570986	0.757000	0.28394	0.611000	0.29010	0.943000	0.58893	0.163000	0.16520	1.069000	0.40788	0.528000	0.53228	TTA		0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
DQX1	165545	broad.mit.edu	37	2	74750464	74750464	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:74750464G>T	ENST00000404568.3	-	5	1236	c.1017C>A	c.(1015-1017)gtC>gtA	p.V339V	DQX1_ENST00000393951.2_Silent_p.V339V|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	339	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.V221V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTGAGTCGATGACATGTTGGA	0.542																																					p.V339V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1017A	2						.						183.0	167.0	172.0					2																	74750464		2203	4300	6503	74603972	SO:0001819	synonymous_variant	165545	exon5			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1017C>A	2.37:g.74750464G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74603972	NM_133637	Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	CCDS1949.2																																																																																				0.542	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
HTRA2	27429	broad.mit.edu	37	2	74760020	74760020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:74760020G>T	ENST00000258080.3	+	8	1915	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	LOXL3_ENST00000264094.3_3'UTR|LOXL3_ENST00000409249.1_3'UTR|HTRA2_ENST00000352222.3_Nonsense_Mutation_p.E332*|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	429	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.E429*(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						AGATGTTTATGAAGCTGTTCG	0.483																																					p.E429X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1285T	2						.						164.0	175.0	171.0					2																	74760020		2203	4300	6503	74613528	SO:0001587	stop_gained	27429	exon8				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.1285G>T	2.37:g.74760020G>T	ENSP00000258080:p.Glu429*	Somatic		Capture	Illumina HiSeq	Phase_I	74613528	NM_013247	Q9HBZ4|Q9P0Y3|Q9P0Y4	Nonsense_Mutation	SNP	ENST00000258080.3	37	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804943	0.70682	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	.	.	.	4.81	4.81	0.61882	.	0.391373	0.27609	N	0.018616	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-11.7132	15.4041	0.74863	0.0:0.0:1.0:0.0	.	.	.	.	X	429;332;394	.	ENSP00000258080:E429X	E	+	1	0	HTRA2	74613528	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.752000	0.47516	2.490000	0.84030	0.514000	0.50259	GAA		0.483	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247	
TACR1	6869	broad.mit.edu	37	2	75276768	75276768	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:75276768T>C	ENST00000305249.5	-	5	1780	c.1015A>G	c.(1015-1017)Acc>Gcc	p.T339A		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	339					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.T339A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGATACCGGGTGGATTTCATT	0.622																																					p.T339A	Pancreas(64;62 1268 3653 14826 43765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1015G	2						.						51.0	52.0	51.0					2																	75276768		2203	4300	6503	75130276	SO:0001583	missense	6869	exon5			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.1015A>G	2.37:g.75276768T>C	ENSP00000303522:p.Thr339Ala	Somatic		Capture	Illumina HiSeq	Phase_I	75130276	NM_001058	A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015601	0.35511	.	.	ENSG00000115353	ENST00000305249	T	0.70045	-0.45	5.04	5.04	0.67666	.	0.045907	0.85682	D	0.000000	T	0.55955	0.1953	L	0.38733	1.17	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52646	-0.8548	10	0.35671	T	0.21	.	12.7924	0.57541	0.0:0.0:0.0:1.0	.	339	P25103	NK1R_HUMAN	A	339	ENSP00000303522:T339A	ENSP00000303522:T339A	T	-	1	0	TACR1	75130276	1.000000	0.71417	0.997000	0.53966	0.170000	0.22686	4.505000	0.60421	2.114000	0.64651	0.460000	0.39030	ACC		0.622	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
TACR1	6869	broad.mit.edu	37	2	75347720	75347720	+	Silent	SNP	C	C	T	rs199842504		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:75347720C>T	ENST00000305249.5	-	2	1329	c.564G>A	c.(562-564)ccG>ccA	p.P188P	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Silent_p.P188P	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	188					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.P188P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AAATCTTGTTCGGATGCTCTG	0.537																																					p.P188P	Pancreas(64;62 1268 3653 14826 43765)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G564A	2						.						83.0	72.0	76.0					2																	75347720		2203	4300	6503	75201228	SO:0001819	synonymous_variant	6869	exon2			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.564G>A	2.37:g.75347720C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75201228	NM_015727	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.537	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
EVA1A	84141	broad.mit.edu	37	2	75745237	75745237	+	Silent	SNP	C	C	T	rs372051466		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:75745237C>T	ENST00000233712.1	-	3	467	c.30G>A	c.(28-30)gaG>gaA	p.E10E	EVA1A_ENST00000410113.1_Silent_p.E10E|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000410071.1_Silent_p.E10E|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000393913.3_Silent_p.E10E	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	10	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.E10E(1)									TCTCCACGTGCTCTGGGCTGT	0.592																																					p.E10E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G30A	2						.	C	,	0,4406		0,0,2203	105.0	95.0	98.0		30,30	2.9	0.1	2		98	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FAM176A	NM_001135032.1,NM_032181.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	10/153,10/153	75745237	2,13004	2203	4300	6503	75598745	SO:0001819	synonymous_variant	84141	exon3			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.30G>A	2.37:g.75745237C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75598745	NM_032181	D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	CCDS1959.1																																																																																				0.592	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181	
MRPL19	9801	broad.mit.edu	37	2	75879271	75879271	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:75879271C>A	ENST00000393909.2	+	3	250	c.225C>A	c.(223-225)ttC>ttA	p.F75L	MRPL19_ENST00000358788.6_Missense_Mutation_p.F75L|MRPL19_ENST00000409374.1_Missense_Mutation_p.F75L	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	75					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.F75L(1)		kidney(1)|large_intestine(1)|lung(6)	8						TTTACAGGTTCTTGAGTCCTG	0.294																																					p.F75L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C225A	2						.						33.0	33.0	33.0					2																	75879271		1786	4030	5816	75732779	SO:0001583	missense	9801	exon3			AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.225C>A	2.37:g.75879271C>A	ENSP00000377486:p.Phe75Leu	Somatic		Capture	Illumina HiSeq	Phase_I	75732779	NM_014763	Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213953	0.39102	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	4.85	1.9	0.25705	.	0.044787	0.85682	D	0.000000	T	0.44540	0.1298	M	0.70275	2.135	0.80722	D	1	P	0.45768	0.866	B	0.35240	0.198	T	0.44726	-0.9309	9	0.87932	D	0	-17.0956	8.4078	0.32625	0.0:0.7127:0.0:0.2873	.	75	P49406	RM19_HUMAN	L	75	.	ENSP00000351639:F75L	F	+	3	2	MRPL19	75732779	0.915000	0.31059	0.994000	0.49952	0.932000	0.56968	1.002000	0.29796	0.266000	0.21894	-0.355000	0.07637	TTC		0.294	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763	
CTNNA2	1496	broad.mit.edu	37	2	80782865	80782865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:80782865G>T	ENST00000402739.4	+	11	1593	c.1588G>T	c.(1588-1590)Gag>Tag	p.E530*	CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E564*|CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.E530*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E530*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E209*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E530*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E530*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	530					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E530*(1)|p.G531C(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCCCTCCAAGAGGGCGATGT	0.483																																					p.E531X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G1591T	2						.						76.0	75.0	75.0					2																	80782865		1875	4104	5979	80636376	SO:0001587	stop_gained	1496	exon12				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1588G>T	2.37:g.80782865G>T	ENSP00000384638:p.Glu530*	Somatic		Capture	Illumina HiSeq	Phase_I	80636376	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	39	7.291987	0.98192	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	.	.	.	X	530;530;564;530;530;530;209	.	.	E	+	1	0	CTNNA2	80636376	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.743000	0.98849	2.765000	0.95021	0.650000	0.86243	GAG		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
CTNNA2	1496	broad.mit.edu	37	2	80831243	80831243	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:80831243C>T	ENST00000402739.4	+	15	2239	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V	AC008067.2_ENST00000599412.2_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A779V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A745V|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A745V|AC008067.2_ENST00000596783.1_RNA|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A424V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A745V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A745V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	745					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A745V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATTAATGCTGCCAAGAAAATT	0.433																																					p.A746V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2237T	2						.						97.0	89.0	92.0					2																	80831243		1889	4137	6026	80684754	SO:0001583	missense	1496	exon16				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2234C>T	2.37:g.80831243C>T	ENSP00000384638:p.Ala745Val	Somatic		Capture	Illumina HiSeq	Phase_I	80684754	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	35	5.581716	0.96565	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.71674	0.998;0.976;0.998;0.998	D;P;D;D	0.76071	0.987;0.855;0.953;0.953	D	0.86643	0.1893	9	.	.	.	.	19.9392	0.97153	0.0:1.0:0.0:0.0	.	377;745;745;745	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	745;745;779;745;745;745;424	ENSP00000418191:A745V;ENSP00000419295:A745V;ENSP00000355398:A779V;ENSP00000384638:A745V;ENSP00000444675:A745V;ENSP00000441705:A745V;ENSP00000341500:A424V	.	A	+	2	0	CTNNA2	80684754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.764000	0.85297	2.713000	0.92767	0.655000	0.94253	GCC		0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
SUCLG1	8802	broad.mit.edu	37	2	84658736	84658736	+	Missense_Mutation	SNP	C	C	T	rs145106503		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:84658736C>T	ENST00000393868.2	-	7	931	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	241					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.E241K(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AAAAAGATTTCGAGGCAGTCA	0.363																																					p.E241K	Ovarian(48;203 1101 37206 40305 50790)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721A	2						.	C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	102.0	102.0	102.0		721	6.2	0.9	2	dbSNP_134	102	0,8600		0,0,4300	yes	missense	SUCLG1	NM_003849.3	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	241/347	84658736	3,13003	2203	4300	6503	84512247	SO:0001583	missense	8802	exon7			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.721G>A	2.37:g.84658736C>T	ENSP00000377446:p.Glu241Lys	Somatic		Capture	Illumina HiSeq	Phase_I	84512247	NM_003849	Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534731	0.64972	6.81E-4	0.0	ENSG00000163541	ENST00000393868	D	0.83419	-1.72	6.17	6.17	0.99709	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.327706	0.40144	N	0.001180	T	0.69070	0.3070	N	0.11870	0.19	0.80722	D	1	B	0.32128	0.357	B	0.24394	0.053	T	0.66705	-0.5856	10	0.19590	T	0.45	-21.9402	18.3732	0.90420	0.0:1.0:0.0:0.0	.	241	P53597	SUCA_HUMAN	K	241	ENSP00000377446:E241K	ENSP00000377446:E241K	E	-	1	0	SUCLG1	84512247	1.000000	0.71417	0.916000	0.36221	0.941000	0.58515	7.726000	0.84824	2.941000	0.99782	0.655000	0.94253	GAA		0.363	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	
DNAH6	1768	broad.mit.edu	37	2	84811207	84811207	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:84811207G>T	ENST00000237449.6	+	14	2322	c.2314G>T	c.(2314-2316)Gac>Tac	p.D772Y	DNAH6_ENST00000398278.2_Missense_Mutation_p.D772Y|DNAH6_ENST00000389394.3_Missense_Mutation_p.D772Y			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	772	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D772Y(1)|p.D351Y(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCTCCTGAAGACTTTGCTGT	0.393																																					p.D772Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2314T	2						.						181.0	173.0	176.0					2																	84811207		2203	4300	6503	84664718	SO:0001583	missense	1768	exon15			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2314G>T	2.37:g.84811207G>T	ENSP00000237449:p.Asp772Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	84664718	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511095	0.85389	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.27104	1.69;1.8;1.69	5.73	5.73	0.89815	.	0.000000	0.46145	D	0.000315	T	0.51856	0.1699	M	0.65498	2.005	0.48135	D	0.999592	D;D	0.89917	0.999;1.0	D;D	0.81914	0.96;0.995	T	0.50482	-0.8823	10	0.72032	D	0.01	.	18.6655	0.91488	0.0:0.0:1.0:0.0	.	772;351	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	Y	772	ENSP00000374045:D772Y;ENSP00000381326:D772Y;ENSP00000237449:D772Y	ENSP00000237449:D772Y	D	+	1	0	DNAH6	84664718	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.492000	0.81482	2.700000	0.92200	0.591000	0.81541	GAC		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
IMMT	10989	broad.mit.edu	37	2	86371720	86371720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:86371720C>A	ENST00000410111.3	-	15	2335	c.1948G>T	c.(1948-1950)Gaa>Taa	p.E650*	IMMT_ENST00000449247.2_Nonsense_Mutation_p.E639*|IMMT_ENST00000442664.2_Nonsense_Mutation_p.E649*|IMMT_ENST00000254636.5_Nonsense_Mutation_p.E551*|IMMT_ENST00000409051.2_Nonsense_Mutation_p.E603*	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	650					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E650*(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTGGTTTCATCAATCATT	0.537																																					p.E649X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1945T	2						.						123.0	119.0	120.0					2																	86371720		1884	4118	6002	86225231	SO:0001587	stop_gained	10989	exon15			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1948G>T	2.37:g.86371720C>A	ENSP00000387262:p.Glu650*	Somatic		Capture	Illumina HiSeq	Phase_I	86225231	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Nonsense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.938483|4.938483	0.92526|0.92526	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	-20.6593|-20.6593	19.3809|19.3809	0.94532|0.94532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	551;639;650;649;603;639;618;264;551|504	.|.	ENSP00000254636:E551X|.	E|X	-|-	1|2	0|2	IMMT|IMMT	86225231|86225231	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.456000|0.456000	0.32438|0.32438	7.651000|7.651000	0.83577|0.83577	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	GAA|TGA		0.537	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
IMMT	10989	broad.mit.edu	37	2	86371884	86371884	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:86371884G>A	ENST00000410111.3	-	15	2171	c.1784C>T	c.(1783-1785)gCa>gTa	p.A595V	IMMT_ENST00000449247.2_Missense_Mutation_p.A584V|IMMT_ENST00000442664.2_Missense_Mutation_p.A594V|IMMT_ENST00000254636.5_Missense_Mutation_p.A496V|IMMT_ENST00000409051.2_Missense_Mutation_p.A548V	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	595					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.A595V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCTCAACTGCACTACCCAG	0.502																																					p.A594V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1781T	2						.						89.0	86.0	87.0					2																	86371884		1924	4133	6057	86225395	SO:0001583	missense	10989	exon15			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1784C>T	2.37:g.86371884G>A	ENSP00000387262:p.Ala595Val	Somatic		Capture	Illumina HiSeq	Phase_I	86225395	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862161	0.32884	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.68317	2.08	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.15052	0.004;0.012;0.007;0.007;0.012	T	0.15122	-1.0448	10	0.46703	T	0.11	-13.0405	19.1497	0.93482	0.0:0.0:1.0:0.0	.	548;583;584;563;595	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	V	496;584;595;594;548;584;563;496	ENSP00000254636:A496V;ENSP00000396899:A584V;ENSP00000387262:A595V;ENSP00000407788:A594V;ENSP00000387227:A548V	ENSP00000254636:A496V	A	-	2	0	IMMT	86225395	1.000000	0.71417	0.178000	0.23040	0.271000	0.26615	5.466000	0.66731	2.761000	0.94854	0.650000	0.86243	GCA		0.502	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
REEP1	65055	broad.mit.edu	37	2	86479188	86479188	+	Silent	SNP	G	G	A	rs551468138		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:86479188G>A	ENST00000165698.5	-	5	452	c.309C>T	c.(307-309)atC>atT	p.I103I	REEP1_ENST00000535845.1_Silent_p.I76I|REEP1_ENST00000540790.1_Silent_p.I82I|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Silent_p.I110I|REEP1_ENST00000473407.1_5'UTR	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	103					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)	p.I103I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GACAATCATCGATTTCCTGTC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21532	0.0		0.0	False		,,,				2504	0.001				p.I103I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	2						.						92.0	90.0	91.0					2																	86479188		2203	4300	6503	86332699	SO:0001819	synonymous_variant	65055	exon5			AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.309C>T	2.37:g.86479188G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86332699	NM_022912	B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Silent	SNP	ENST00000165698.5	37	CCDS1989.1																																																																																				0.522	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912	
RNF103	7844	broad.mit.edu	37	2	86847539	86847539	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:86847539C>T	ENST00000237455.4	-	2	1248	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.E16K|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Missense_Mutation_p.E16K|AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	94					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E94K(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAACCGATTCGGATGCTTCT	0.423																																					p.E94K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280A	2						.						93.0	90.0	91.0					2																	86847539		2203	4300	6503	86701050	SO:0001583	missense	7844	exon2			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.280G>A	2.37:g.86847539C>T	ENSP00000237455:p.Glu94Lys	Somatic		Capture	Illumina HiSeq	Phase_I	86701050	NM_001198952	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412267	0.96072	.	.	ENSG00000115561;ENSG00000249884;ENSG00000239305	ENST00000439940;ENST00000440757;ENST00000237455	D;T;T	0.92249	-3.0;-1.25;0.83	5.96	5.96	0.96718	.	0.047576	0.85682	D	0.000000	D	0.90525	0.7031	L	0.51422	1.61	0.58432	D	0.99999	P;D	0.54964	0.935;0.969	B;B	0.40636	0.212;0.335	D	0.91155	0.4956	10	0.62326	D	0.03	-14.7187	20.422	0.99049	0.0:1.0:0.0:0.0	.	16;94	Q9Y3E7-3;O00237	.;RN103_HUMAN	K	16;94;94	ENSP00000405575:E16K;ENSP00000392995:E94K;ENSP00000237455:E94K	ENSP00000237455:E94K	E	-	1	0	RNF103;VPS24;RNF103-VPS24	86701050	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.484000	0.66844	2.832000	0.97577	0.655000	0.94253	GAA		0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667	
ZNF514	84874	broad.mit.edu	37	2	95815622	95815622	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:95815622G>T	ENST00000295208.2	-	5	1070	c.608C>A	c.(607-609)tCt>tAt	p.S203Y	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.S203Y	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S203Y(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						ACATTTACAAGATTTCTTTTC	0.443																																					p.S203Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C608A	2						.						119.0	127.0	124.0					2																	95815622		2203	4300	6503	95179349	SO:0001583	missense	84874	exon5			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.608C>A	2.37:g.95815622G>T	ENSP00000295208:p.Ser203Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	95179349	NM_032788	Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.334849	0.41297	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.28255	1.62;1.62	3.18	2.27	0.28462	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29389	0.0732	L	0.48986	1.54	0.26300	N	0.977998	P;P	0.47350	0.894;0.709	B;B	0.42738	0.365;0.396	T	0.13282	-1.0515	9	0.87932	D	0	.	8.8588	0.35245	0.1188:0.0:0.8812:0.0	.	203;22	Q96K75;Q658L7	ZN514_HUMAN;.	Y	203	ENSP00000295208:S203Y;ENSP00000405509:S203Y	ENSP00000295208:S203Y	S	-	2	0	ZNF514	95179349	0.870000	0.30015	0.969000	0.41365	0.349000	0.29174	4.459000	0.60102	0.868000	0.35678	0.655000	0.94253	TCT		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788	
NCAPH	23397	broad.mit.edu	37	2	97020014	97020014	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:97020014G>A	ENST00000240423.4	+	9	1139	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	NCAPH_ENST00000427946.1_Missense_Mutation_p.D230N|NCAPH_ENST00000455200.1_Missense_Mutation_p.D355N	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	366					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D366N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGACTTCCCCGATGGGTCCCT	0.532																																					p.D366N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096A	2						.						164.0	161.0	162.0					2																	97020014		2203	4300	6503	96383741	SO:0001583	missense	23397	exon9			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1096G>A	2.37:g.97020014G>A	ENSP00000240423:p.Asp366Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96383741	NM_015341	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	3.936	-0.015161	0.07681	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.51817	0.69;0.74;0.69;0.69	5.38	3.49	0.39957	.	0.374050	0.25711	N	0.028806	T	0.34542	0.0901	L	0.43152	1.355	0.09310	N	0.999997	B;B;B;B	0.32203	0.197;0.197;0.36;0.197	B;B;B;B	0.28784	0.06;0.06;0.094;0.06	T	0.13548	-1.0505	10	0.19590	T	0.45	-1.6934	9.7122	0.40251	0.1777:0.0:0.8223:0.0	.	342;355;355;366	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	N	366;230;355;355	ENSP00000240423:D366N;ENSP00000400774:D230N;ENSP00000405237:D355N;ENSP00000407308:D355N	ENSP00000240423:D366N	D	+	1	0	NCAPH	96383741	0.000000	0.05858	0.005000	0.12908	0.073000	0.16967	0.610000	0.24253	0.581000	0.29539	0.561000	0.74099	GAT		0.532	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	
ZAP70	7535	broad.mit.edu	37	2	98341631	98341631	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:98341631G>A	ENST00000264972.5	+	4	694	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ZAP70_ENST00000442208.1_Missense_Mutation_p.R34Q|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	160	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R160Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCCACGAGCGGATGCCCTGG	0.652																																					p.R160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	2						.						49.0	45.0	46.0					2																	98341631		2203	4300	6503	97708063	SO:0001583	missense	7535	exon4			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.479G>A	2.37:g.98341631G>A	ENSP00000264972:p.Arg160Gln	Somatic		Capture	Illumina HiSeq	Phase_I	97708063	NM_001079	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521946	0.64747	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.92495	-3.05;-3.05	5.37	5.37	0.77165	SH2 motif (1);	0.000000	0.43260	D	0.000590	D	0.84800	0.5552	L	0.36672	1.1	0.46901	D	0.999241	B;P;P	0.47034	0.099;0.889;0.614	B;B;B	0.24269	0.003;0.052;0.021	D	0.86311	0.1686	10	0.40728	T	0.16	.	16.976	0.86313	0.0:0.0:1.0:0.0	.	160;34;160	B4E0E2;P43403-3;P43403	.;.;ZAP70_HUMAN	Q	160;34	ENSP00000264972:R160Q;ENSP00000411141:R34Q	ENSP00000264972:R160Q	R	+	2	0	ZAP70	97708063	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.451000	0.52964	2.688000	0.91661	0.591000	0.81541	CGG		0.652	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
CNGA3	1261	broad.mit.edu	37	2	99013191	99013191	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:99013191T>C	ENST00000272602.2	+	7	1597	c.1558T>C	c.(1558-1560)Tac>Cac	p.Y520H	CNGA3_ENST00000393504.1_Missense_Mutation_p.Y520H|CNGA3_ENST00000409937.1_Missense_Mutation_p.Y524H|CNGA3_ENST00000436404.2_Missense_Mutation_p.Y502H			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	520					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.Y520H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGGAGATGTACATCATCAA	0.567																																					p.Y520H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1558C	2						.						110.0	100.0	103.0					2																	99013191		2203	4300	6503	98379623	SO:0001583	missense	1261	exon8			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1558T>C	2.37:g.99013191T>C	ENSP00000272602:p.Tyr520His	Somatic		Capture	Illumina HiSeq	Phase_I	98379623	NM_001298	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802691	0.70682	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	4.87	4.87	0.63330	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.059026	0.64402	D	0.000001	D	0.98441	0.9481	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.99474	1.0946	10	0.87932	D	0	.	13.5664	0.61822	0.0:0.0:0.0:1.0	.	524;502;520	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	H	520;502;520;524	ENSP00000377140:Y520H;ENSP00000410070:Y502H;ENSP00000272602:Y520H;ENSP00000386761:Y524H	ENSP00000272602:Y520H	Y	+	1	0	CNGA3	98379623	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.525000	0.81892	2.037000	0.60232	0.460000	0.39030	TAC		0.567	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
INPP4A	3631	broad.mit.edu	37	2	99204042	99204042	+	Missense_Mutation	SNP	G	G	A	rs529481819		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:99204042G>A	ENST00000523221.1	+	24	2905	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	INPP4A_ENST00000545415.1_Missense_Mutation_p.E930K|INPP4A_ENST00000074304.5_Missense_Mutation_p.E969K|INPP4A_ENST00000409851.3_Missense_Mutation_p.E964K|INPP4A_ENST00000409016.4_Missense_Mutation_p.E930K|INPP4A_ENST00000409463.1_Missense_Mutation_p.E298K			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	969					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.E969K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAGGCCTCCCGAAGGGACTTA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17021	0.0		0.0	False		,,,				2504	0.001				p.E964K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2890A	2						.						100.0	97.0	98.0					2																	99204042		1864	4101	5965	98570474	SO:0001583	missense	3631	exon25			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2905G>A	2.37:g.99204042G>A	ENSP00000427722:p.Glu969Lys	Somatic		Capture	Illumina HiSeq	Phase_I	98570474	NM_001134225	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	36	5.688452	0.96784	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000523221	T;T;T;T;T;T	0.43294	1.89;2.24;0.95;2.24;1.89;2.24	5.43	5.43	0.79202	.	0.112703	0.64402	D	0.000011	T	0.48484	0.1502	L	0.52126	1.63	0.80722	D	1	P;P;D;D	0.61080	0.954;0.727;0.989;0.989	B;B;P;P	0.50192	0.229;0.216;0.634;0.634	T	0.27839	-1.0062	10	0.30078	T	0.28	-23.7281	18.4048	0.90532	0.0:0.0:1.0:0.0	.	930;298;969;964	Q96PE3-2;B8ZZB2;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	K	930;964;298;969;930;969	ENSP00000386704:E930K;ENSP00000386777:E964K;ENSP00000386329:E298K;ENSP00000074304:E969K;ENSP00000442149:E930K;ENSP00000427722:E969K	ENSP00000074304:E969K	E	+	1	0	INPP4A	98570474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.824000	0.97209	0.655000	0.94253	GAA		0.413	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
MITD1	129531	broad.mit.edu	37	2	99790403	99790403	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:99790403C>A	ENST00000289359.2	-	2	304	c.228G>T	c.(226-228)aaG>aaT	p.K76N	MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	76	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.K76del(1)|p.K76N(1)		large_intestine(3)|lung(2)|ovary(1)	6						CCAAGTACTTCTTTATGTTTT	0.333																																					p.K76N												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(2)	c.G228T	2						.						160.0	144.0	150.0					2																	99790403		2202	4299	6501	99156835	SO:0001583	missense	129531	exon2			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.228G>T	2.37:g.99790403C>A	ENSP00000289359:p.Lys76Asn	Somatic		Capture	Illumina HiSeq	Phase_I	99156835	NM_138798	Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746085	0.49151	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T;T	0.77229	-1.08;-1.08;-1.08	5.77	3.88	0.44766	MIT (2);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87113	0.2186	10	0.72032	D	0.01	-3.3688	4.6389	0.12540	0.0:0.5976:0.1652:0.2371	.	76	Q8WV92	MITD1_HUMAN	N	58;76;76	ENSP00000413371:K58N;ENSP00000289359:K76N;ENSP00000387316:K76N	ENSP00000289359:K76N	K	-	3	2	MITD1	99156835	0.928000	0.31464	1.000000	0.80357	0.388000	0.30384	0.820000	0.27323	1.453000	0.47775	0.650000	0.86243	AAG		0.333	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798	
LYG1	129530	broad.mit.edu	37	2	99912118	99912118	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:99912118G>T	ENST00000409448.1	-	4	332	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	LYG1_ENST00000308528.4_Missense_Mutation_p.L6M			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	6					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.L6M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCAGCAGCAGCCACAATGCA	0.428																																					p.L6M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16A	2						.						134.0	139.0	138.0					2																	99912118		2203	4300	6503	99278550	SO:0001583	missense	129530	exon3			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.16C>A	2.37:g.99912118G>T	ENSP00000386923:p.Leu6Met	Somatic		Capture	Illumina HiSeq	Phase_I	99278550	NM_174898	Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923880	0.52653	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.67	4.67	0.58626	.	0.142348	0.32372	N	0.006195	T	0.66982	0.2845	L	0.58101	1.795	0.31872	N	0.61955	D	0.89917	1.0	D	0.91635	0.999	T	0.70230	-0.4929	8	.	.	.	-9.2733	13.2611	0.60106	0.0:0.0:1.0:0.0	.	6	Q8N1E2	LYG1_HUMAN	M	6	.	.	L	-	1	2	LYG1	99278550	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.044000	0.41241	2.587000	0.87381	0.650000	0.86243	CTG		0.428	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898	
EIF5B	9669	broad.mit.edu	37	2	99977707	99977707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:99977707G>T	ENST00000289371.6	+	4	545	c.343G>T	c.(343-345)Gaa>Taa	p.E115*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.E115*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATAGCGAAGAATTGGAAGA	0.328																																					p.E115X	Colon(162;2388 2567 2705 3444)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G343T	2						.						72.0	75.0	74.0					2																	99977707		1817	4077	5894	99344139	SO:0001587	stop_gained	9669	exon4			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.343G>T	2.37:g.99977707G>T	ENSP00000289371:p.Glu115*	Somatic		Capture	Illumina HiSeq	Phase_I	99344139	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Nonsense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	37	6.503229	0.97620	.	.	ENSG00000158417	ENST00000289371	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.72	19.9924	0.97371	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	.	E	+	1	0	EIF5B	99344139	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.358000	0.73055	2.727000	0.93392	0.650000	0.86243	GAA		0.328	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
EIF5B	9669	broad.mit.edu	37	2	100011204	100011204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:100011204G>A	ENST00000289371.6	+	21	3314	c.3112G>A	c.(3112-3114)Gat>Aat	p.D1038N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1038					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.D1038N(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGCCTTCGATGTGAGAAT	0.333																																					p.D1038N	Colon(162;2388 2567 2705 3444)											.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G3112A	2						.						155.0	138.0	143.0					2																	100011204		1846	4098	5944	99377636	SO:0001583	missense	9669	exon21			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3112G>A	2.37:g.100011204G>A	ENSP00000289371:p.Asp1038Asn	Somatic		Capture	Illumina HiSeq	Phase_I	99377636	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588026	0.96590	.	.	ENSG00000158417	ENST00000289371	T	0.33216	1.42	5.7	5.7	0.88788	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.47097	0.1427	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.19582	-1.0301	8	.	.	.	-33.2189	19.8424	0.96695	0.0:0.0:1.0:0.0	.	1038	O60841	IF2P_HUMAN	N	1038	ENSP00000289371:D1038N	.	D	+	1	0	EIF5B	99377636	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	GAT		0.333	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
AFF3	3899	broad.mit.edu	37	2	100623726	100623726	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:100623726G>T	ENST00000409236.2	-	4	483	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	AFF3_ENST00000317233.4_Missense_Mutation_p.S124Y|AFF3_ENST00000409579.1_Missense_Mutation_p.S149Y|AFF3_ENST00000356421.2_Missense_Mutation_p.S149Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	124					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S149Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTACAGATAGACGAGGGCTG	0.542																																					p.S149Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446A	2						.						125.0	134.0	131.0					2																	100623726		2203	4300	6503	99990158	SO:0001583	missense	3899	exon5			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.371C>A	2.37:g.100623726G>T	ENSP00000387207:p.Ser124Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	99990158	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252458	0.10185	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400	T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.78	3.89	0.44902	.	0.549937	0.16787	N	0.199540	T	0.47488	0.1448	N	0.24115	0.695	0.09310	N	1	B;P;P;B;P	0.46220	0.071;0.744;0.794;0.008;0.874	B;B;P;B;B	0.45377	0.043;0.439;0.478;0.006;0.444	T	0.44345	-0.9334	10	0.06625	T	0.88	.	5.3301	0.15928	0.101:0.0:0.6953:0.2037	.	278;278;124;124;149	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	Y	124;149;149;124;124;278;149;124;124;124	ENSP00000317421:S124Y;ENSP00000348793:S149Y;ENSP00000386834:S149Y;ENSP00000387207:S124Y;ENSP00000406484:S124Y;ENSP00000396582:S124Y;ENSP00000399795:S124Y	ENSP00000317421:S124Y	S	-	2	0	AFF3	99990158	0.268000	0.24133	0.063000	0.19743	0.076000	0.17211	2.716000	0.47219	2.579000	0.87056	0.585000	0.79938	TCT		0.542	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
AFF3	3899	broad.mit.edu	37	2	100625392	100625392	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:100625392A>G	ENST00000409236.2	-	3	168	c.56T>C	c.(55-57)gTc>gCc	p.V19A	AFF3_ENST00000317233.4_Missense_Mutation_p.V19A|AFF3_ENST00000409579.1_Missense_Mutation_p.V44A|AFF3_ENST00000356421.2_Missense_Mutation_p.V44A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	19					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.V44A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGTTCATAGACACTGCATCA	0.403																																					p.V44A												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.T131C	2						.						180.0	156.0	164.0					2																	100625392		2203	4300	6503	99991824	SO:0001583	missense	3899	exon4			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.56T>C	2.37:g.100625392A>G	ENSP00000387207:p.Val19Ala	Somatic		Capture	Illumina HiSeq	Phase_I	99991824	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578481	0.28180	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445;ENST00000415384	T;T;T;T	0.69926	-0.43;-0.44;-0.44;-0.43	5.97	3.31	0.37934	.	0.250775	0.28093	N	0.016638	T	0.54870	0.1885	L	0.46157	1.445	0.28893	N	0.893714	B;B;B;B	0.15141	0.012;0.011;0.004;0.003	B;B;B;B	0.15052	0.012;0.009;0.002;0.005	T	0.49844	-0.8896	10	0.42905	T	0.14	.	6.4144	0.21708	0.774:0.0:0.1095:0.1164	.	173;173;19;44	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	A	19;44;44;19;19;173;44;19;19;19;19;19;96;173	ENSP00000317421:V19A;ENSP00000348793:V44A;ENSP00000386834:V44A;ENSP00000387207:V19A	ENSP00000317421:V19A	V	-	2	0	AFF3	99991824	1.000000	0.71417	0.995000	0.50966	0.812000	0.45895	1.438000	0.35002	0.384000	0.24942	0.533000	0.62120	GTC		0.403	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
SEPT2	4735	broad.mit.edu	37	2	242275494	242275494	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr2:242275494G>A	ENST00000391973.2	+	5	850	c.322G>A	c.(322-324)Gct>Act	p.A108T	SEPT2_ENST00000407971.1_Missense_Mutation_p.A68T|SEPT2_ENST00000391971.2_Missense_Mutation_p.A108T|SEPT2_ENST00000360051.3_Missense_Mutation_p.A108T|SEPT2_ENST00000402092.2_Missense_Mutation_p.A108T|SEPT2_ENST00000401990.1_Missense_Mutation_p.A118T	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	108	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)	p.A108T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CTATGGTGACGCTATCAACTG	0.423																																					p.A108T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	2						.						78.0	69.0	72.0					2																	242275494		2203	4300	6503	241924167	SO:0001583	missense	4735	exon6			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.322G>A	2.37:g.242275494G>A	ENSP00000375834:p.Ala108Thr	Somatic		Capture	Illumina HiSeq	Phase_I	241924167	NM_001008491	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970833	0.74246	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000407017;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000402092;ENST00000443492;ENST00000437066;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.94	5.07	0.68467	.	0.048070	0.85682	D	0.000000	T	0.65144	0.2663	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.996	P;D;P	0.64877	0.843;0.93;0.863	T	0.67745	-0.5591	10	0.52906	T	0.07	.	15.424	0.75038	0.0665:0.0:0.9335:0.0	.	143;68;108	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	T	108;68;108;68;108;118;68;108;119;108;68;108;143;108	ENSP00000375834:A108T;ENSP00000397195:A68T;ENSP00000353157:A108T;ENSP00000386001:A68T;ENSP00000375832:A108T;ENSP00000385109:A118T;ENSP00000384525:A68T;ENSP00000406181:A108T;ENSP00000394666:A119T;ENSP00000385172:A108T;ENSP00000399195:A68T;ENSP00000412434:A108T;ENSP00000391717:A108T	ENSP00000353157:A108T	A	+	1	0	SEPT2	241924167	1.000000	0.71417	0.858000	0.33744	0.387000	0.30353	9.143000	0.94623	1.527000	0.49086	0.650000	0.86243	GCT		0.423	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155	
FILIP1L	11259	broad.mit.edu	37	3	99568438	99568438	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:99568438C>A	ENST00000354552.3	-	5	2552	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.E270D|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E454D|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E694D|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E454D	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	694						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E694D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CATGGCTGGTCTCTGTCTTTT	0.378																																					p.E694D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2082T	3						.						96.0	86.0	89.0					3																	99568438		1857	4102	5959	101051128	SO:0001583	missense	11259	exon5				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2082G>T	3.37:g.99568438C>A	ENSP00000346560:p.Glu694Asp	Somatic		Capture	Illumina HiSeq	Phase_I	101051128	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146180	0.37923	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.35048	1.64;1.33;1.33;1.64;1.34;1.36	5.51	2.65	0.31530	.	0.000000	0.49916	D	0.000121	T	0.34890	0.0913	L	0.43923	1.385	0.27629	N	0.948084	D;D	0.57899	0.981;0.967	P;P	0.52217	0.693;0.633	T	0.13845	-1.0494	10	0.32370	T	0.25	-13.2344	5.8931	0.18925	0.0:0.6001:0.1254:0.2745	.	694;694	Q4L180-2;Q4L180	.;FIL1L_HUMAN	D	694;270;454;694;454;440;454	ENSP00000346560:E694D;ENSP00000417774:E270D;ENSP00000419642:E454D;ENSP00000327880:E694D;ENSP00000373192:E454D;ENSP00000419874:E454D	ENSP00000327880:E694D	E	-	3	2	FILIP1L	101051128	0.398000	0.25279	1.000000	0.80357	0.978000	0.69477	-0.062000	0.11674	0.239000	0.21243	0.467000	0.42956	GAG		0.378	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
TBC1D23	55773	broad.mit.edu	37	3	100029348	100029348	+	Silent	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:100029348T>G	ENST00000394144.4	+	14	1522	c.1515T>G	c.(1513-1515)gtT>gtG	p.V505V	TBC1D23_ENST00000344949.5_Silent_p.V505V|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.V368V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	505					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.V505V(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GGGAAAAAGTTATCAGTTTTA	0.328																																					p.V505V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1515G	3						.						112.0	113.0	113.0					3																	100029348		2203	4300	6503	101512038	SO:0001819	synonymous_variant	55773	exon14			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1515T>G	3.37:g.100029348T>G		Somatic		Capture	Illumina HiSeq	Phase_I	101512038	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	CCDS56265.1																																																																																				0.328	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
TOMM70A	9868	broad.mit.edu	37	3	100084504	100084504	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:100084504C>T	ENST00000284320.5	-	12	2179	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	577					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.S577S(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTCCATTTCCGATTTGGCCA	0.393																																					p.S577S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1731A	3						.						190.0	179.0	183.0					3																	100084504		2203	4300	6503	101567194	SO:0001819	synonymous_variant	9868	exon12			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1731G>A	3.37:g.100084504C>T		Somatic		Capture	Illumina HiSeq	Phase_I	101567194	NM_014820	D3DN48	Silent	SNP	ENST00000284320.5	37	CCDS33807.1																																																																																				0.393	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2		
LNP1	348801	broad.mit.edu	37	3	100174643	100174643	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:100174643G>T	ENST00000383693.3	+	4	1690	c.410G>T	c.(409-411)aGa>aTa	p.R137I	LNP1_ENST00000489752.1_Missense_Mutation_p.R150I	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	137								p.R137I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						AGAAAGGAGAGAAATGAAAGA	0.423																																					p.R137I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410T	3						.						101.0	97.0	98.0					3																	100174643		1855	4099	5954	101657333	SO:0001583	missense	348801	exon4				CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.410G>T	3.37:g.100174643G>T	ENSP00000373191:p.Arg137Ile	Somatic		Capture	Illumina HiSeq	Phase_I	101657333	NM_001085451	B7ZLT3	Missense_Mutation	SNP	ENST00000383693.3	37	CCDS43120.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734815	0.48939	.	.	ENSG00000206535	ENST00000383693;ENST00000489752	.	.	.	5.78	3.0	0.34707	.	0.134583	0.47852	D	0.000208	T	0.41926	0.1180	L	0.34521	1.04	0.43667	D	0.996097	P	0.35383	0.498	B	0.40228	0.323	T	0.30238	-0.9985	9	0.87932	D	0	-15.7278	6.3066	0.21141	0.1552:0.0:0.6969:0.1479	.	137	A1A4G5	LNP1_HUMAN	I	137;150	.	ENSP00000373191:R137I	R	+	2	0	LNP1	101657333	0.989000	0.36119	0.242000	0.24170	0.294000	0.27393	2.037000	0.41174	0.351000	0.24027	-0.137000	0.14449	AGA		0.423	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1		
TFG	10342	broad.mit.edu	37	3	100447606	100447606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:100447606C>T	ENST00000240851.4	+	4	659	c.319C>T	c.(319-321)Cga>Tga	p.R107*	TFG_ENST00000476228.1_Nonsense_Mutation_p.R107*|TFG_ENST00000418917.2_Nonsense_Mutation_p.R107*|TFG_ENST00000490574.1_Nonsense_Mutation_p.R107*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	107					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)	p.R107*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATATCTCCGTCGAGAACTGAT	0.368			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																p.R107X			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	3						.						78.0	80.0	80.0					3																	100447606		2203	4300	6503	101930296	SO:0001587	stop_gained	10342	exon4			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.319C>T	3.37:g.100447606C>T	ENSP00000240851:p.Arg107*	Somatic		Capture	Illumina HiSeq	Phase_I	101930296	NM_006070	D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011754	0.93346	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.05	4.12	0.48240	.	0.053193	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.345	15.3606	0.74472	0.1396:0.8604:0.0:0.0	.	.	.	.	X	107	.	ENSP00000240851:R107X	R	+	1	2	TFG	101930296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.493000	0.53266	2.470000	0.83445	0.655000	0.94253	CGA		0.368	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070	
ABI3BP	25890	broad.mit.edu	37	3	100508310	100508310	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:100508310G>A	ENST00000284322.5	-	24	2126	c.2017C>T	c.(2017-2019)Cac>Tac	p.H673Y	ABI3BP_ENST00000471714.1_Missense_Mutation_p.H1350Y|ABI3BP_ENST00000383691.4_Missense_Mutation_p.H627Y	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	673	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.H674Y(1)|p.H627Y(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGTCTGATGTGTGGCTTGTCA	0.423																																					p.H673Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2017T	3						.						75.0	70.0	72.0					3																	100508310		1873	4114	5987	101991000	SO:0001583	missense	25890	exon24			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2017C>T	3.37:g.100508310G>A	ENSP00000284322:p.His673Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	101991000	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.566|9.566	1.119749|1.119749	0.20877|0.20877	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000497395	T;T;T|.	0.23950|.	2.23;1.91;1.88|.	5.27|5.27	3.22|3.22	0.36961|0.36961	.|.	1.032600|.	0.07622|.	N|.	0.927178|.	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.21381|.	0.02;0.0;0.055;0.02|.	B;B;B;B|.	0.22880|.	0.017;0.0;0.042;0.012|.	T|T	0.21415|0.21415	-1.0246|-1.0246	10|5	0.02654|.	T|.	1|.	0.1314|0.1314	7.1731|7.1731	0.25728|0.25728	0.2458:0.0:0.7542:0.0|0.2458:0.0:0.7542:0.0	.|.	627;673;1350;357|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	Y|I	1350;673;357;59;627;85|88	ENSP00000420524:H1350Y;ENSP00000284322:H673Y;ENSP00000373189:H627Y|.	ENSP00000284322:H673Y|.	H|T	-|-	1|2	0|0	ABI3BP|ABI3BP	101991000|101991000	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.233000|0.233000	0.25261|0.25261	0.719000|0.719000	0.25881|0.25881	0.686000|0.686000	0.31488|0.31488	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.423	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
IMPG2	50939	broad.mit.edu	37	3	101038554	101038554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:101038554C>A	ENST00000193391.7	-	2	395	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	70					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E70*(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CTTTCAGTTTCTCTGCGGTCC	0.453																																					p.E70X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G208T	3						.						144.0	146.0	145.0					3																	101038554		2203	4300	6503	102521244	SO:0001587	stop_gained	50939	exon2			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.208G>T	3.37:g.101038554C>A	ENSP00000193391:p.Glu70*	Somatic		Capture	Illumina HiSeq	Phase_I	102521244	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Nonsense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691199	0.88735	.	.	ENSG00000081148	ENST00000193391	.	.	.	5.64	2.46	0.29980	.	0.363225	0.26891	N	0.021973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.2426	10.598	0.45349	0.0:0.7639:0.0:0.2361	.	.	.	.	X	70	.	ENSP00000193391:E70X	E	-	1	0	IMPG2	102521244	0.971000	0.33674	0.120000	0.21714	0.450000	0.32258	1.591000	0.36665	0.755000	0.32990	0.563000	0.77884	GAA		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
SEC13	6396	broad.mit.edu	37	3	10345795	10345795	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:10345795A>C	ENST00000350697.3	-	8	895	c.770T>G	c.(769-771)tTg>tGg	p.L257W	SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000397109.3_Missense_Mutation_p.L243W|SEC13_ENST00000397117.1_Missense_Mutation_p.L243W|SEC13_ENST00000383801.2_Missense_Mutation_p.L303W|SEC13_ENST00000337354.4_Missense_Mutation_p.L260W	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	257					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.L257W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CTTGTGCAACAATTTAGGGGA	0.493																																					p.L243W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T728G	3						.						173.0	117.0	136.0					3																	10345795		2203	4300	6503	10320795	SO:0001583	missense	6396	exon8				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.770T>G	3.37:g.10345795A>C	ENSP00000312122:p.Leu257Trp	Somatic		Capture	Illumina HiSeq	Phase_I	10320795	NM_001136232	A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673820	0.88445	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	T;T;T;D;D	0.81739	-0.2;-0.2;-0.2;-1.53;-1.53	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.90359	0.6983	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	P;P;D;D	0.72338	0.874;0.807;0.967;0.977	D	0.91940	0.5562	10	0.72032	D	0.01	.	12.9492	0.58389	1.0:0.0:0.0:0.0	.	257;243;303;257	E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;SEC13_HUMAN	W	243;260;257;243;303	ENSP00000380298:L243W;ENSP00000336566:L260W;ENSP00000312122:L257W;ENSP00000380306:L243W;ENSP00000373312:L303W	ENSP00000336566:L260W	L	-	2	0	SEC13	10320795	1.000000	0.71417	0.822000	0.32727	0.991000	0.79684	7.225000	0.78051	1.939000	0.56221	0.482000	0.46254	TTG		0.493	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3		
ZBTB11	27107	broad.mit.edu	37	3	101370011	101370011	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:101370011C>A	ENST00000312938.4	-	11	3741	c.3161G>T	c.(3160-3162)tGa>tTa	p.*1054L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	0					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.*1054L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTAACATACTCATTCTCCTCC	0.358																																					p.X1054L												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G3161T	3						.						120.0	119.0	119.0					3																	101370011		2203	4300	6503	102852701	SO:0001578	stop_lost	27107	exon11			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3161G>T	3.37:g.101370011C>A		Somatic		Capture	Illumina HiSeq	Phase_I	102852701	NM_014415	Q2NKP9	Nonstop_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374462	0.42105	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.39	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5935	0.33701	0.0:0.7312:0.1273:0.1414	.	.	.	.	L	1054	.	.	X	-	2	2	ZBTB11	102852701	0.998000	0.40836	0.993000	0.49108	0.830000	0.47004	1.072000	0.30678	1.418000	0.47098	0.555000	0.69702	TGA		0.358	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
CCDC54	84692	broad.mit.edu	37	3	107096858	107096858	+	Nonsense_Mutation	SNP	G	G	T	rs200376354		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:107096858G>T	ENST00000261058.1	+	1	671	c.424G>T	c.(424-426)Gaa>Taa	p.E142*		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	142								p.E142*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAAGGTGACAGAACTGGAAAT	0.383																																					p.E142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G424T	3						.						60.0	53.0	55.0					3																	107096858		2203	4300	6503	108579548	SO:0001587	stop_gained	84692	exon1			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.424G>T	3.37:g.107096858G>T	ENSP00000261058:p.Glu142*	Somatic		Capture	Illumina HiSeq	Phase_I	108579548	NM_032600	Q96A43	Nonsense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872525	0.72180	.	.	ENSG00000138483	ENST00000261058	.	.	.	5.23	4.35	0.52113	.	0.263396	0.26723	N	0.022835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.6909	10.0713	0.42335	0.0952:0.0:0.9048:0.0	.	.	.	.	X	142	.	ENSP00000261058:E142X	E	+	1	0	CCDC54	108579548	0.957000	0.32711	0.315000	0.25238	0.084000	0.17831	2.935000	0.48963	1.190000	0.43042	0.460000	0.39030	GAA		0.383	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600	
DZIP3	9666	broad.mit.edu	37	3	108406861	108406861	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:108406861C>T	ENST00000361582.3	+	29	3418	c.3188C>T	c.(3187-3189)gCt>gTt	p.A1063V	DZIP3_ENST00000463306.1_Missense_Mutation_p.A1063V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1063					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1063V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTGAAGGATGCTTATGGAAAA	0.363																																					p.A1063V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3188T	3						.						98.0	96.0	96.0					3																	108406861		2203	4300	6503	109889551	SO:0001583	missense	9666	exon29			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3188C>T	3.37:g.108406861C>T	ENSP00000355028:p.Ala1063Val	Somatic		Capture	Illumina HiSeq	Phase_I	109889551	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267281	0.40095	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.20069	2.1;2.1	5.45	4.58	0.56647	.	0.876128	0.09846	N	0.748193	T	0.14356	0.0347	N	0.14661	0.345	0.18873	N	0.999989	B;B	0.16166	0.013;0.016	B;B	0.14578	0.011;0.005	T	0.17198	-1.0377	10	0.54805	T	0.06	-0.0035	9.9607	0.41695	0.0:0.9093:0.0:0.0907	.	681;1063	D3DN61;Q86Y13	.;DZIP3_HUMAN	V	1063	ENSP00000355028:A1063V;ENSP00000419981:A1063V	ENSP00000355028:A1063V	A	+	2	0	DZIP3	109889551	0.722000	0.28017	0.298000	0.25002	0.650000	0.38633	1.261000	0.32980	1.545000	0.49373	0.655000	0.94253	GCT		0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
PVRL3	25945	broad.mit.edu	37	3	110837539	110837539	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:110837539C>T	ENST00000485303.1	+	3	814	c.539C>T	c.(538-540)tCt>tTt	p.S180F	PVRL3_ENST00000319792.3_Missense_Mutation_p.S180F|PVRL3_ENST00000493615.1_Missense_Mutation_p.S157F	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	180	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.S180F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GGGCCAGATTCTTTAATTGAT	0.368																																					p.S180F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C539T	3						.						34.0	32.0	33.0					3																	110837539		2203	4300	6503	112320229	SO:0001583	missense	25945	exon3			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.539C>T	3.37:g.110837539C>T	ENSP00000418070:p.Ser180Phe	Somatic		Capture	Illumina HiSeq	Phase_I	112320229	NM_015480	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812375	0.90707	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T	0.78126	-1.15;-1.15;-1.15;1.49	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168207	0.52532	D	0.000061	T	0.77678	0.4166	N	0.14661	0.345	0.43489	D	0.995723	D;D	0.57571	0.98;0.975	P;P	0.60345	0.873;0.832	T	0.81486	-0.0911	10	0.72032	D	0.01	.	17.1218	0.86704	0.0:1.0:0.0:0.0	.	157;180	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	F	180;180;157;165	ENSP00000418070:S180F;ENSP00000321514:S180F;ENSP00000420579:S157F;ENSP00000420479:S165F	ENSP00000321514:S180F	S	+	2	0	PVRL3	112320229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.105000	0.64591	2.648000	0.89879	0.650000	0.86243	TCT		0.368	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480	
ATG7	10533	broad.mit.edu	37	3	11350480	11350480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:11350480G>A	ENST00000354449.3	+	5	381	c.356G>A	c.(355-357)gGc>gAc	p.G119D	ATG7_ENST00000354956.5_Missense_Mutation_p.G119D|ATG7_ENST00000446450.2_Missense_Mutation_p.G119D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	119					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.G119D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ATAAAATCAGGCACTGCTCTT	0.473																																					p.G119D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	3						.						251.0	225.0	234.0					3																	11350480		2203	4300	6503	11325480	SO:0001583	missense	10533	exon5			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.356G>A	3.37:g.11350480G>A	ENSP00000346437:p.Gly119Asp	Somatic		Capture	Illumina HiSeq	Phase_I	11325480	NM_006395	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911550	0.72983	.	.	ENSG00000197548	ENST00000451513;ENST00000451830;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000423116	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.18	5.18	0.71444	.	0.137650	0.48767	D	0.000170	T	0.59128	0.2171	M	0.69248	2.105	0.80722	D	1	D;D;P	0.61697	0.99;0.98;0.913	P;P;P	0.60345	0.873;0.871;0.548	T	0.59107	-0.7516	10	0.46703	T	0.11	-18.5487	15.9683	0.79991	0.0:0.0:1.0:0.0	.	119;119;119	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	D	119	ENSP00000415223:G119D;ENSP00000411880:G119D;ENSP00000412580:G119D;ENSP00000347042:G119D;ENSP00000346437:G119D;ENSP00000416644:G119D	ENSP00000346437:G119D	G	+	2	0	ATG7	11325480	1.000000	0.71417	0.313000	0.25210	0.763000	0.43281	7.949000	0.87791	2.567000	0.86603	0.591000	0.81541	GGC		0.473	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395	
ZBED2	79413	broad.mit.edu	37	3	111313033	111313033	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:111313033C>A	ENST00000317012.4	-	2	1024	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	6							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D6Y(1)		large_intestine(3)|lung(1)|skin(2)	6						TCTTCCTCGTCTTCCCGCCTC	0.433																																					p.D6Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16T	3						.						207.0	178.0	188.0					3																	111313033		2203	4300	6503	112795723	SO:0001583	missense	79413	exon2			BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.16G>T	3.37:g.111313033C>A	ENSP00000321370:p.Asp6Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112795723	NM_024508	D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452168	0.26074	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	T	0.25644	0.0624	N	0.08118	0	0.25577	N	0.986831	P	0.39157	0.662	B	0.43575	0.424	T	0.15636	-1.0430	8	0.87932	D	0	.	11.3933	0.49827	0.0:1.0:0.0:0.0	.	6	Q9BTP6	ZBED2_HUMAN	Y	6	.	ENSP00000321370:D6Y	D	-	1	0	ZBED2	112795723	1.000000	0.71417	0.981000	0.43875	0.385000	0.30292	1.873000	0.39558	2.129000	0.65627	0.563000	0.77884	GAC		0.433	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508	
CCDC80	151887	broad.mit.edu	37	3	112326074	112326074	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:112326074A>T	ENST00000206423.3	-	7	3408	c.2455T>A	c.(2455-2457)Tta>Ata	p.L819I	CCDC80_ENST00000439685.2_Missense_Mutation_p.L819I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	819					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.L819I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCAACGCCTAAAAGCTTCAGA	0.383																																					p.L819I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2455A	3						.						99.0	93.0	95.0					3																	112326074		2203	4300	6503	113808764	SO:0001583	missense	151887	exon7			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2455T>A	3.37:g.112326074A>T	ENSP00000206423:p.Leu819Ile	Somatic		Capture	Illumina HiSeq	Phase_I	113808764	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192972	0.58017	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000479368	T;T;T	0.42900	0.96;0.96;0.96	5.76	2.24	0.28232	.	0.210963	0.39210	N	0.001421	T	0.40791	0.1131	L	0.43152	1.355	0.80722	D	1	B;B	0.28850	0.225;0.225	B;B	0.44224	0.444;0.444	T	0.36696	-0.9737	10	0.52906	T	0.07	-10.4721	5.1775	0.15143	0.596:0.1506:0.2534:0.0	.	819;819	A3KC71;Q76M96	.;CCD80_HUMAN	I	819;819;97	ENSP00000206423:L819I;ENSP00000411814:L819I;ENSP00000418188:L97I	ENSP00000206423:L819I	L	-	1	2	CCDC80	113808764	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.389000	0.34453	1.017000	0.39495	0.533000	0.62120	TTA		0.383	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
KIAA2018	205717	broad.mit.edu	37	3	113377567	113377567	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:113377567C>A	ENST00000478658.1	-	5	2979	c.2962G>T	c.(2962-2964)Gat>Tat	p.D988Y	KIAA2018_ENST00000316407.4_Missense_Mutation_p.D988Y|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	988						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.D988Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCTGATGAATCTTGCTCAACT	0.398																																					p.D988Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2962T	3						.						114.0	106.0	109.0					3																	113377567		1875	4101	5976	114860257	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2962G>T	3.37:g.113377567C>A	ENSP00000420721:p.Asp988Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	114860257	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	2.463	-0.323695	0.05350	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.05	4.18	0.49190	.	1.045110	0.07436	N	0.896461	T	0.12305	0.0299	N	0.24115	0.695	0.33596	D	0.601652	P	0.44090	0.826	B	0.34873	0.191	T	0.14200	-1.0481	10	0.59425	D	0.04	0.1641	10.4931	0.44762	0.0:0.8451:0.0:0.1549	.	988	Q68DE3	K2018_HUMAN	Y	988	ENSP00000320794:D988Y;ENSP00000420721:D988Y	ENSP00000320794:D988Y	D	-	1	0	KIAA2018	114860257	0.017000	0.18338	0.356000	0.25785	0.020000	0.10135	0.725000	0.25970	1.130000	0.42092	0.650000	0.86243	GAT		0.398	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
ATP6V1A	523	broad.mit.edu	37	3	113524243	113524243	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:113524243G>A	ENST00000273398.3	+	14	1740	c.1632G>A	c.(1630-1632)atG>atA	p.M544I	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.M511I	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	544					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)	p.M544I(1)		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)	TGTCCAACATGATTGCATTTT	0.398																																					p.M544I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1632A	3						.						106.0	101.0	102.0					3																	113524243		2203	4300	6503	115006933	SO:0001583	missense	523	exon14			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.1632G>A	3.37:g.113524243G>A	ENSP00000273398:p.Met544Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115006933	NM_001690	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446790	0.25987	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;T	0.83755	-1.76;-0.98	5.96	5.96	0.96718	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.65047	-0.6263	10	0.02654	T	1	-20.0236	20.422	0.99049	0.0:0.0:1.0:0.0	.	544	P38606	VATA_HUMAN	I	261;544;511	ENSP00000273398:M544I;ENSP00000439874:M511I	ENSP00000273398:M544I	M	+	3	0	ATP6V1A	115006933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.832000	0.97577	0.655000	0.94253	ATG		0.398	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
KIAA1407	57577	broad.mit.edu	37	3	113755582	113755582	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:113755582A>C	ENST00000295878.3	-	5	613	c.467T>G	c.(466-468)tTt>tGt	p.F156C	KIAA1407_ENST00000545063.1_De_novo_Start_OutOfFrame	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	156								p.F156C(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATGGTCTATAAATTTTTGAAC	0.368																																					p.F156C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T467G	3						.						116.0	109.0	112.0					3																	113755582		2203	4300	6503	115238272	SO:0001583	missense	57577	exon5			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.467T>G	3.37:g.113755582A>C	ENSP00000295878:p.Phe156Cys	Somatic		Capture	Illumina HiSeq	Phase_I	115238272	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078255	0.55753	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.51071	1.34;0.72	5.28	5.28	0.74379	.	0.206543	0.41396	D	0.000896	T	0.62221	0.2410	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.991;0.994	T	0.64706	-0.6344	10	0.62326	D	0.03	.	8.7844	0.34811	0.7155:0.0:0.0:0.2845	.	143;32;156	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	C	156;143;120	ENSP00000295878:F156C;ENSP00000418099:F143C	ENSP00000295878:F156C	F	-	2	0	KIAA1407	115238272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.883000	0.48554	2.207000	0.71202	0.528000	0.53228	TTT		0.368	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
ARHGAP31	57514	broad.mit.edu	37	3	119132987	119132987	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:119132987G>T	ENST00000264245.4	+	12	2743	c.2211G>T	c.(2209-2211)gaG>gaT	p.E737D		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	737	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.E737D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCAGCAGAGAGAAGCCGGAAC	0.597																																					p.E737D	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2211T	3						.						55.0	59.0	58.0					3																	119132987		1971	4148	6119	120615677	SO:0001583	missense	57514	exon12				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2211G>T	3.37:g.119132987G>T	ENSP00000264245:p.Glu737Asp	Somatic		Capture	Illumina HiSeq	Phase_I	120615677	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788277	0.31593	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07327	3.2	5.3	0.0506	0.14294	.	0.412857	0.22684	N	0.056910	T	0.05593	0.0147	L	0.32530	0.975	0.09310	N	1	P	0.34522	0.455	B	0.30105	0.111	T	0.35425	-0.9789	10	0.33940	T	0.23	.	9.2868	0.37762	0.2745:0.0:0.7255:0.0	.	737	Q2M1Z3	RHG31_HUMAN	D	737	ENSP00000264245:E737D	ENSP00000264245:E737D	E	+	3	2	ARHGAP31	120615677	0.005000	0.15991	0.007000	0.13788	0.034000	0.12701	0.273000	0.18662	0.006000	0.14734	0.655000	0.94253	GAG		0.597	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
ARHGAP31	57514	broad.mit.edu	37	3	119134178	119134178	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:119134178C>T	ENST00000264245.4	+	12	3934	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1134					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.V1134V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAATGCAGGTCTCTGAGCCAG	0.522																																					p.V1134V	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3402T	3						.						94.0	90.0	92.0					3																	119134178		1936	4150	6086	120616868	SO:0001819	synonymous_variant	57514	exon12				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3402C>T	3.37:g.119134178C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120616868	NM_020754	Q9ULL6	Silent	SNP	ENST00000264245.4	37	CCDS43135.1																																																																																				0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
PLA1A	51365	broad.mit.edu	37	3	119328393	119328393	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:119328393C>T	ENST00000273371.4	+	4	604	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	PLA1A_ENST00000495992.1_Missense_Mutation_p.L162F|PLA1A_ENST00000488919.1_Missense_Mutation_p.L5F|PLA1A_ENST00000494440.1_Missense_Mutation_p.L162F	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	178					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.L178F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTGGGACAGCTCTTCGGAGG	0.542																																					p.L178F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532T	3						.						120.0	116.0	118.0					3																	119328393		2203	4300	6503	120811083	SO:0001583	missense	51365	exon4			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.532C>T	3.37:g.119328393C>T	ENSP00000273371:p.Leu178Phe	Somatic		Capture	Illumina HiSeq	Phase_I	120811083	NM_015900	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	6.292	0.421953	0.11928	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.31	2.88	0.33553	Lipase, N-terminal (1);	0.258863	0.43110	N	0.000608	T	0.78972	0.4368	N	0.19112	0.55	0.26818	N	0.968844	B;B	0.11235	0.003;0.004	B;B	0.18263	0.012;0.021	T	0.60546	-0.7242	10	0.09590	T	0.72	-17.9898	6.2677	0.20936	0.0:0.0846:0.1603:0.755	.	162;178	Q53H76-3;Q53H76	.;PLA1A_HUMAN	F	178;5;162;162;44	ENSP00000273371:L178F;ENSP00000420625:L5F;ENSP00000417326:L162F;ENSP00000418793:L162F;ENSP00000417295:L44F	ENSP00000273371:L178F	L	+	1	0	PLA1A	120811083	0.065000	0.20965	0.989000	0.46669	0.794000	0.44872	0.268000	0.18571	0.391000	0.25143	-0.367000	0.07326	CTC		0.542	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
GPR156	165829	broad.mit.edu	37	3	119886062	119886062	+	Missense_Mutation	SNP	G	G	T	rs368406321		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:119886062G>T	ENST00000464295.1	-	10	2707	c.2262C>A	c.(2260-2262)ttC>ttA	p.F754L	GPR156_ENST00000461057.1_Missense_Mutation_p.F750L|GPR156_ENST00000315843.3_Missense_Mutation_p.F754L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	754						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.F754L(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCGGCAGAAGAACTCATCTG	0.562																																					p.F750L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2250A	3						.						78.0	88.0	85.0					3																	119886062		2203	4300	6503	121368752	SO:0001583	missense	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2262C>A	3.37:g.119886062G>T	ENSP00000417261:p.Phe754Leu	Somatic		Capture	Illumina HiSeq	Phase_I	121368752	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108331	0.20714	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22945	1.93;1.93;1.93	4.97	3.03	0.35002	.	0.662303	0.15293	N	0.270073	T	0.11367	0.0277	N	0.08118	0	0.29944	N	0.820789	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18840	-1.0324	9	.	.	.	-9.4612	7.6332	0.28251	0.0:0.2571:0.4193:0.3235	.	750;754	E9PFZ4;Q8NFN8	.;GP156_HUMAN	L	754;754;750	ENSP00000417261:F754L;ENSP00000324553:F754L;ENSP00000418758:F750L	.	F	-	3	2	GPR156	121368752	0.642000	0.27260	1.000000	0.80357	0.987000	0.75469	0.664000	0.25068	1.459000	0.47892	0.561000	0.74099	TTC		0.562	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
LRRC58	116064	broad.mit.edu	37	3	120053901	120053901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:120053901C>A	ENST00000295628.3	-	3	810	c.715G>T	c.(715-717)Gag>Tag	p.E239*		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	239								p.E239*(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		AAACTCAACTCTTCCAAATGA	0.393																																					p.E239X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G715T	3						.						109.0	98.0	101.0					3																	120053901		1861	4100	5961	121536591	SO:0001587	stop_gained	116064	exon3			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.715G>T	3.37:g.120053901C>A	ENSP00000295628:p.Glu239*	Somatic		Capture	Illumina HiSeq	Phase_I	121536591	NM_001099678		Nonsense_Mutation	SNP	ENST00000295628.3	37	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	C	37	6.549532	0.97654	.	.	ENSG00000163428	ENST00000295628	.	.	.	5.37	5.37	0.77165	.	0.097074	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-9.995	16.2683	0.82601	0.0:1.0:0.0:0.0	.	.	.	.	X	239	.	ENSP00000295628:E239X	E	-	1	0	LRRC58	121536591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.433000	0.80362	2.517000	0.84864	0.655000	0.94253	GAG		0.393	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296	
POLQ	10721	broad.mit.edu	37	3	121209199	121209199	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121209199C>T	ENST00000264233.5	-	16	2707	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	860					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R995Q(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCAGATAGTTCGCATATTGCG	0.458								DNA polymerases (catalytic subunits)																													p.R860Q	Pancreas(152;907 1925 26081 31236 36904)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2579A	3						.						170.0	150.0	157.0					3																	121209199		2203	4300	6503	122691889	SO:0001583	missense	10721	exon16			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2579G>A	3.37:g.121209199C>T	ENSP00000264233:p.Arg860Gln	Somatic		Capture	Illumina HiSeq	Phase_I	122691889	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424279	0.62733	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.47	2.69	0.31865	.	0.250174	0.40908	N	0.000990	T	0.52693	0.1750	M	0.86178	2.8	0.46774	D	0.999199	B;B	0.28636	0.218;0.196	B;B	0.18871	0.023;0.017	T	0.56780	-0.7922	10	0.72032	D	0.01	.	9.8985	0.41334	0.0:0.7218:0.0:0.2782	.	860;32	O75417;O75417-2	DPOLQ_HUMAN;.	Q	483;860;996	ENSP00000264233:R860Q	ENSP00000264233:R860Q	R	-	2	0	POLQ	122691889	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.478000	0.35442	0.684000	0.31448	0.557000	0.71058	CGA		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
HCLS1	3059	broad.mit.edu	37	3	121366176	121366176	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121366176C>T	ENST00000314583.3	-	4	369	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	HCLS1_ENST00000428394.2_Missense_Mutation_p.R93Q	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	93					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.R93Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTTGTCCATTCGGTCTCTTTC	0.483																																					p.R93Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	3						.						189.0	187.0	188.0					3																	121366176		2203	4300	6503	122848866	SO:0001583	missense	3059	exon4				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.278G>A	3.37:g.121366176C>T	ENSP00000320176:p.Arg93Gln	Somatic		Capture	Illumina HiSeq	Phase_I	122848866	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565464	0.96527	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.32272	1.62;1.46	5.64	5.64	0.86602	.	0.174296	0.46758	D	0.000273	T	0.65302	0.2678	M	0.90870	3.155	0.58432	D	0.999996	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.87578	0.826;0.998;0.989	T	0.71862	-0.4464	10	0.87932	D	0	-9.1746	17.243	0.87019	0.0:1.0:0.0:0.0	.	93;93;93	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	Q	93	ENSP00000320176:R93Q;ENSP00000387645:R93Q	ENSP00000320176:R93Q	R	-	2	0	HCLS1	122848866	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.811000	0.75221	2.937000	0.99478	0.650000	0.86243	CGA		0.483	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
GOLGB1	2804	broad.mit.edu	37	3	121383778	121383778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121383778G>A	ENST00000340645.5	-	21	9765	c.9640C>T	c.(9640-9642)Cga>Tga	p.R3214*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.R3224*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3214					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R3214*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTACCCTTCGACAACTGTTG	0.493																																					p.R3214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C9640T	3						.						146.0	134.0	138.0					3																	121383778		2203	4300	6503	122866468	SO:0001587	stop_gained	2804	exon21			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9640C>T	3.37:g.121383778G>A	ENSP00000341848:p.Arg3214*	Somatic		Capture	Illumina HiSeq	Phase_I	122866468	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	51	17.556290	0.99889	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.65	4.77	0.60923	.	0.116173	0.39083	N	0.001477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4574	0.55712	0.0:0.1676:0.8324:0.0	.	.	.	.	X	3214;3224	.	ENSP00000341848:R3214X	R	-	1	2	GOLGB1	122866468	0.961000	0.32948	0.998000	0.56505	0.925000	0.55904	1.857000	0.39399	1.609000	0.50190	-0.175000	0.13238	CGA		0.493	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121413219	121413219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121413219C>A	ENST00000340645.5	-	13	6261	c.6136G>T	c.(6136-6138)Gaa>Taa	p.E2046*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2051*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2046					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2046*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGAACAAATTCTAGAGCTTTA	0.368																																					p.E2046X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6136T	3						.						99.0	101.0	100.0					3																	121413219		2203	4300	6503	122895909	SO:0001587	stop_gained	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6136G>T	3.37:g.121413219C>A	ENSP00000341848:p.Glu2046*	Somatic		Capture	Illumina HiSeq	Phase_I	122895909	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	45	11.850352	0.99610	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	16.8352	0.85955	0.0:1.0:0.0:0.0	.	.	.	.	X	2046;2051	.	ENSP00000341848:E2046X	E	-	1	0	GOLGB1	122895909	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.956000	0.40382	2.838000	0.97847	0.591000	0.81541	GAA		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121415010	121415010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121415010C>A	ENST00000340645.5	-	13	4470	c.4345G>T	c.(4345-4347)Gag>Tag	p.E1449*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E1454*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1449					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1449*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCATCATGCTCTTTGGCTTGC	0.378																																					p.E1449X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4345T	3						.						161.0	161.0	161.0					3																	121415010		2203	4300	6503	122897700	SO:0001587	stop_gained	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4345G>T	3.37:g.121415010C>A	ENSP00000341848:p.Glu1449*	Somatic		Capture	Illumina HiSeq	Phase_I	122897700	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	42	9.362343	0.99148	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	6.02	6.02	0.97574	.	0.092585	0.47093	D	0.000243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.0346	0.89296	0.0:1.0:0.0:0.0	.	.	.	.	X	1449;1454;1413	.	ENSP00000341848:E1449X	E	-	1	0	GOLGB1	122897700	0.822000	0.29219	0.999000	0.59377	0.954000	0.61252	2.232000	0.43018	2.865000	0.98341	0.655000	0.94253	GAG		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121415190	121415190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121415190C>A	ENST00000340645.5	-	13	4290	c.4165G>T	c.(4165-4167)Gaa>Taa	p.E1389*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E1394*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1389					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1389*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGTTGCAATTCTCTTAGATGT	0.423																																					p.E1389X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4165T	3						.						159.0	165.0	163.0					3																	121415190		2203	4299	6502	122897880	SO:0001587	stop_gained	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4165G>T	3.37:g.121415190C>A	ENSP00000341848:p.Glu1389*	Somatic		Capture	Illumina HiSeq	Phase_I	122897880	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	38	6.989303	0.97987	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	5.65	1.16	0.20824	.	0.715463	0.13418	N	0.389404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	7.9497	0.30008	0.0:0.4598:0.0:0.5402	.	.	.	.	X	1389;1394;1353	.	ENSP00000341848:E1389X	E	-	1	0	GOLGB1	122897880	0.706000	0.27856	0.974000	0.42286	0.496000	0.33645	0.110000	0.15437	0.020000	0.15106	0.655000	0.94253	GAA		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
CASR	846	broad.mit.edu	37	3	121976107	121976107	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121976107C>A	ENST00000490131.1	+	3	737	c.365C>A	c.(364-366)tCt>tAt	p.S122Y	CASR_ENST00000296154.5_Missense_Mutation_p.S122Y|CASR_ENST00000498619.1_Missense_Mutation_p.S122Y	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	122					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.S122Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAAATTGATTCTTTGAACCTT	0.488																																					p.S122Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C365A	3						.						125.0	121.0	122.0					3																	121976107		2203	4300	6503	123458797	SO:0001583	missense	846	exon3			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.365C>A	3.37:g.121976107C>A	ENSP00000418685:p.Ser122Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	123458797	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484429	0.44147	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.84070	-1.8;-1.8;-1.8	5.75	5.75	0.90469	Extracellular ligand-binding receptor (1);	0.049403	0.85682	D	0.000000	D	0.88403	0.6427	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.982	T	0.82833	-0.0262	10	0.02654	T	1	.	18.936	0.92586	0.0:1.0:0.0:0.0	.	122;122	E7ENE0;P41180	.;CASR_HUMAN	Y	122	ENSP00000418685:S122Y;ENSP00000420194:S122Y;ENSP00000296154:S122Y	ENSP00000296154:S122Y	S	+	2	0	CASR	123458797	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.712000	0.92718	0.591000	0.81541	TCT		0.488	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
CASR	846	broad.mit.edu	37	3	121981114	121981114	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:121981114A>G	ENST00000490131.1	+	4	1604	c.1232A>G	c.(1231-1233)tAc>tGc	p.Y411C	CASR_ENST00000296154.5_Missense_Mutation_p.Y411C|CASR_ENST00000498619.1_Missense_Mutation_p.Y411C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	411					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Y411C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACATAGATTACACGCATTTA	0.493																																					p.Y411C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1232G	3						.						124.0	114.0	117.0					3																	121981114		2203	4300	6503	123463804	SO:0001583	missense	846	exon4			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1232A>G	3.37:g.121981114A>G	ENSP00000418685:p.Tyr411Cys	Somatic		Capture	Illumina HiSeq	Phase_I	123463804	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065272	0.55432	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83755	-1.76;-1.76;-1.76	5.93	4.75	0.60458	Extracellular ligand-binding receptor (1);	0.165132	0.56097	D	0.000034	D	0.88588	0.6477	M	0.76170	2.325	0.43317	D	0.995337	D;D	0.65815	0.995;0.99	P;P	0.62649	0.905;0.873	D	0.88226	0.2900	10	0.59425	D	0.04	.	10.0705	0.42330	0.6255:0.0:0.0:0.3745	.	411;411	E7ENE0;P41180	.;CASR_HUMAN	C	411	ENSP00000418685:Y411C;ENSP00000420194:Y411C;ENSP00000296154:Y411C	ENSP00000296154:Y411C	Y	+	2	0	CASR	123463804	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	5.154000	0.64894	1.032000	0.39892	0.533000	0.62120	TAC		0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
CASR	846	broad.mit.edu	37	3	122002627	122002627	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:122002627C>T	ENST00000490131.1	+	7	2198	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M	CASR_ENST00000296154.5_Missense_Mutation_p.T609M|CASR_ENST00000498619.1_Missense_Mutation_p.T619M|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	609					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T609M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGTCGTGGACGGAGCCCTTT	0.522																																					p.T609M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1826T	3						.						155.0	125.0	135.0					3																	122002627		2203	4300	6503	123485317	SO:0001583	missense	846	exon7			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1826C>T	3.37:g.122002627C>T	ENSP00000418685:p.Thr609Met	Somatic		Capture	Illumina HiSeq	Phase_I	123485317	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631761	0.46944	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89810	-2.57;-2.55;-2.57	5.91	5.91	0.95273	.	0.047737	0.85682	D	0.000000	D	0.93815	0.8022	M	0.72118	2.19	0.49130	D	0.99975	D;D	0.89917	1.0;1.0	D;P	0.66602	0.945;0.893	D	0.92982	0.6407	10	0.48119	T	0.1	.	19.2828	0.94058	0.0:1.0:0.0:0.0	.	619;609	E7ENE0;P41180	.;CASR_HUMAN	M	609;619;609	ENSP00000418685:T609M;ENSP00000420194:T619M;ENSP00000296154:T609M	ENSP00000296154:T609M	T	+	2	0	CASR	123485317	1.000000	0.71417	0.967000	0.41034	0.766000	0.43426	4.848000	0.62874	2.804000	0.96469	0.462000	0.41574	ACG		0.522	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
DTX3L	151636	broad.mit.edu	37	3	122288468	122288468	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:122288468G>A	ENST00000296161.4	+	3	1721	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	511					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G511E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AAAGGAGGAGGAATGTCTTCA	0.438																																					p.G511E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1532A	3						.						88.0	88.0	88.0					3																	122288468		2203	4300	6503	123771158	SO:0001583	missense	151636	exon3				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1532G>A	3.37:g.122288468G>A	ENSP00000296161:p.Gly511Glu	Somatic		Capture	Illumina HiSeq	Phase_I	123771158	NM_138287	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287035	0.23478	.	.	ENSG00000163840	ENST00000296161	T	0.30981	1.51	5.25	1.46	0.22682	.	0.562640	0.16320	N	0.219609	T	0.20047	0.0482	L	0.38531	1.155	0.09310	N	1	B	0.21905	0.062	B	0.23716	0.048	T	0.19128	-1.0315	10	0.36615	T	0.2	-30.4698	3.8307	0.08873	0.3356:0.0:0.505:0.1594	.	511	Q8TDB6	DTX3L_HUMAN	E	511	ENSP00000296161:G511E	ENSP00000296161:G511E	G	+	2	0	DTX3L	123771158	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.454000	0.21827	0.092000	0.17331	-0.136000	0.14681	GGA		0.438	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287	
SEMA5B	54437	broad.mit.edu	37	3	122646800	122646800	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:122646800G>A	ENST00000357599.3	-	8	1073	c.687C>T	c.(685-687)tgC>tgT	p.C229C	SEMA5B_ENST00000451055.2_Silent_p.C283C|SEMA5B_ENST00000195173.4_Silent_p.C229C|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	229	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C229C(1)|p.C283C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTCATAGGGGCAGCGGGCCA	0.612																																					p.C229C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C687T	3						.						94.0	90.0	92.0					3																	122646800		2203	4300	6503	124129490	SO:0001819	synonymous_variant	54437	exon8			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.687C>T	3.37:g.122646800G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124129490	NM_001031702	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																				0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
CCDC14	64770	broad.mit.edu	37	3	123633914	123633914	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:123633914C>A	ENST00000488653.2	-	13	2664	c.2574G>T	c.(2572-2574)aaG>aaT	p.K858N	CCDC14_ENST00000489746.1_Missense_Mutation_p.K658N|CCDC14_ENST00000310351.4_Missense_Mutation_p.K698N|CCDC14_ENST00000433542.2_Missense_Mutation_p.K817N|CCDC14_ENST00000485727.1_Missense_Mutation_p.K658N|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	858					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.K698N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CCTTTATTTTCTTGAGGAGCT	0.458																																					p.K817N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2451T	3						.						82.0	77.0	79.0					3																	123633914		2203	4300	6503	125116604	SO:0001583	missense	64770	exon12			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2574G>T	3.37:g.123633914C>A	ENSP00000420180:p.Lys858Asn	Somatic		Capture	Illumina HiSeq	Phase_I	125116604	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	C	13.60	2.286097	0.40394	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.23	4.36	0.52297	.	0.565577	0.18521	N	0.138777	T	0.44350	0.1289	L	0.44542	1.39	0.23449	N	0.997652	P;P;P	0.37276	0.589;0.589;0.589	B;B;B	0.41619	0.361;0.293;0.215	T	0.33007	-0.9885	10	0.48119	T	0.1	.	18.2195	0.89897	0.1223:0.8777:0.0:0.0	.	858;817;699	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	N	858;698;658;658;817;839	ENSP00000420180:K858N;ENSP00000312031:K698N;ENSP00000418002:K658N;ENSP00000418403:K658N;ENSP00000395706:K817N;ENSP00000386866:K839N	ENSP00000312031:K698N	K	-	3	2	CCDC14	125116604	0.348000	0.24861	0.963000	0.40424	0.842000	0.47809	1.048000	0.30379	0.787000	0.33731	-1.378000	0.01179	AAG		0.458	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
CCDC14	64770	broad.mit.edu	37	3	123665790	123665790	+	Missense_Mutation	SNP	C	C	A	rs377682889		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:123665790C>A	ENST00000488653.2	-	8	1295	c.1205G>T	c.(1204-1206)aGa>aTa	p.R402I	CCDC14_ENST00000489746.1_Missense_Mutation_p.R202I|CCDC14_ENST00000310351.4_Missense_Mutation_p.R242I|CCDC14_ENST00000433542.2_Missense_Mutation_p.R361I|CCDC14_ENST00000485727.1_Missense_Mutation_p.R202I|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	402					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.R242I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TAAATCCTTTCTTTCACTTGT	0.388																																					p.R361I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1082T	3						.	C	ILE/ARG	1,4405	2.1+/-5.4	0,1,2202	197.0	199.0	198.0		1082	4.7	1.0	3		198	0,8600		0,0,4300	no	missense	CCDC14	NM_022757.4	97	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	361/913	123665790	1,13005	2203	4300	6503	125148480	SO:0001583	missense	64770	exon7			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1205G>T	3.37:g.123665790C>A	ENSP00000420180:p.Arg402Ile	Somatic		Capture	Illumina HiSeq	Phase_I	125148480	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	C	14.23	2.474592	0.43942	2.27E-4	0.0	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000426152	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.65	4.7	0.59300	.	0.225385	0.31279	N	0.007932	T	0.23806	0.0576	N	0.22421	0.69	0.38939	D	0.958111	P;P;P	0.34977	0.478;0.478;0.478	B;B;B	0.31686	0.134;0.134;0.134	T	0.06534	-1.0821	10	0.38643	T	0.18	.	5.7595	0.18192	0.0:0.7773:0.0:0.2227	.	402;361;202	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	I	402;242;202;202;361;383;128	ENSP00000420180:R402I;ENSP00000312031:R242I;ENSP00000418002:R202I;ENSP00000418403:R202I;ENSP00000395706:R361I;ENSP00000386866:R383I;ENSP00000414655:R128I	ENSP00000312031:R242I	R	-	2	0	CCDC14	125148480	1.000000	0.71417	0.974000	0.42286	0.378000	0.30076	2.294000	0.43567	2.941000	0.99782	0.655000	0.94253	AGA		0.388	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
KALRN	8997	broad.mit.edu	37	3	123987718	123987718	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:123987718C>A	ENST00000240874.3	+	5	736	c.579C>A	c.(577-579)ttC>ttA	p.F193L	KALRN_ENST00000360013.3_Missense_Mutation_p.F193L|KALRN_ENST00000460856.1_Missense_Mutation_p.F193L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	193					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F193L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGAGGAGTTCTTCAACAGCG	0.617																																					p.F193L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C579A	3						.						57.0	55.0	56.0					3																	123987718		2203	4300	6503	125470408	SO:0001583	missense	8997	exon5			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.579C>A	3.37:g.123987718C>A	ENSP00000240874:p.Phe193Leu	Somatic		Capture	Illumina HiSeq	Phase_I	125470408	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.948843|3.948843	0.73787|0.73787	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	T;T;T|.	0.79454|.	-1.27;-1.27;-1.27|.	5.46|5.46	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63977|0.63977	0.2557|0.2557	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52842|.	0.85;0.956;0.907|.	B;D;P|.	0.65010|.	0.403;0.931;0.607|.	T|T	0.64512|0.64512	-0.6390|-0.6390	10|5	0.41790|.	T|.	0.15|.	.|.	5.929|5.929	0.19128|0.19128	0.0:0.696:0.0:0.304|0.0:0.696:0.0:0.304	.|.	193;193;193|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	L|Y	193|221;171	ENSP00000418611:F193L;ENSP00000240874:F193L;ENSP00000353109:F193L|.	ENSP00000240874:F193L|.	F|S	+|+	3|2	2|0	KALRN|KALRN	125470408|125470408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.018000|2.018000	0.40991|0.40991	1.544000|1.544000	0.49359|0.49359	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.617	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
RAF1	5894	broad.mit.edu	37	3	12626681	12626681	+	Silent	SNP	G	G	A	rs542779722		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:12626681G>A	ENST00000251849.4	-	15	2047	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	RAF1_ENST00000442415.2_Silent_p.I556I|RAF1_ENST00000542177.1_Silent_p.I455I|RAF1_ENST00000534997.1_Silent_p.I321I	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I536I(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CATACAATACGATGCCATAGG	0.488			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		20893	0.001		0.0	False		,,,				2504	0.0				p.I536I			Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1608T	3						.						99.0	81.0	87.0					3																	12626681		2203	4300	6503	12601681	SO:0001819	synonymous_variant	5894	exon15	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1608C>T	3.37:g.12626681G>A		Somatic		Capture	Illumina HiSeq	Phase_I	12601681	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	CCDS2612.1																																																																																				0.488	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
KALRN	8997	broad.mit.edu	37	3	124117551	124117551	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:124117551G>A	ENST00000240874.3	+	13	2330	c.2173G>A	c.(2173-2175)Gct>Act	p.A725T	KALRN_ENST00000360013.3_Missense_Mutation_p.A725T|KALRN_ENST00000460856.1_Missense_Mutation_p.A725T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	725					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A725T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGGGACTCGGCTGTGTCCAA	0.552																																					p.A725T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2173A	3						.						136.0	128.0	131.0					3																	124117551		2203	4300	6503	125600241	SO:0001583	missense	8997	exon13			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2173G>A	3.37:g.124117551G>A	ENSP00000240874:p.Ala725Thr	Somatic		Capture	Illumina HiSeq	Phase_I	125600241	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669794	0.88348	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.61392	1.19;1.19;0.11	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	N	0.21194	0.64	0.80722	D	1	P;B;D;P	0.55172	0.895;0.015;0.97;0.936	P;B;P;P	0.54346	0.468;0.004;0.749;0.669	T	0.46020	-0.9221	10	0.14252	T	0.57	.	19.4714	0.94965	0.0:0.0:1.0:0.0	.	725;71;725;725	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	T	725	ENSP00000418611:A725T;ENSP00000240874:A725T;ENSP00000353109:A725T	ENSP00000240874:A725T	A	+	1	0	KALRN	125600241	1.000000	0.71417	0.964000	0.40570	0.910000	0.53928	7.674000	0.83992	2.843000	0.97960	0.585000	0.79938	GCT		0.552	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
CCDC37	348807	broad.mit.edu	37	3	126152014	126152014	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:126152014C>A	ENST00000352312.1	+	14	1488	c.1389C>A	c.(1387-1389)gtC>gtA	p.V463V	CCDC37_ENST00000505024.1_Silent_p.V464V|CCDC37_ENST00000393425.1_Silent_p.V464V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	463								p.V463V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGCCCGAGTCTTCCACTTCG	0.597																																					p.V463V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1389A	3						.						130.0	120.0	123.0					3																	126152014		2203	4300	6503	127634704	SO:0001819	synonymous_variant	348807	exon14			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1389C>A	3.37:g.126152014C>A		Somatic		Capture	Illumina HiSeq	Phase_I	127634704	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																				0.597	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
RPL32	6161	broad.mit.edu	37	3	12881657	12881657	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:12881657C>T	ENST00000429711.2	-	2	179	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000273223.6_Missense_Mutation_p.R27Q|RPL32_ENST00000396957.1_Missense_Mutation_p.R27Q|RPL32_ENST00000396953.2_Missense_Mutation_p.R27Q|RPL32_ENST00000435983.1_Missense_Mutation_p.R27Q	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	27					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R27Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TTTGACATATCGGTCTGACTG	0.478																																					p.R27Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	3						.						209.0	237.0	227.0					3																	12881657		2203	4300	6503	12856657	SO:0001583	missense	6161	exon2			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.80G>A	3.37:g.12881657C>T	ENSP00000416429:p.Arg27Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12856657	NM_001007073	B2R4Q3|P02433	Missense_Mutation	SNP	ENST00000429711.2	37	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910726	0.52439	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131;ENST00000434963	.	.	.	4.14	2.33	0.28932	Ribosomal protein L32e, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	L	0.47190	1.495	0.80722	D	1	B	0.14438	0.01	B	0.22386	0.039	T	0.37957	-0.9683	9	0.49607	T	0.09	-17.9928	7.9841	0.30200	0.0:0.7946:0.0:0.2054	.	27	P62910	RL32_HUMAN	Q	27	.	ENSP00000339064:R27Q	R	-	2	0	RPL32	12856657	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	5.694000	0.68272	0.386000	0.24997	-0.373000	0.07131	CGA		0.478	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994	
CHCHD6	84303	broad.mit.edu	37	3	126451949	126451949	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:126451949G>A	ENST00000290913.3	+	4	388	c.295G>A	c.(295-297)Gat>Aat	p.D99N	CHCHD6_ENST00000508789.1_Missense_Mutation_p.D99N	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	99					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.D99N(1)		endometrium(2)|large_intestine(3)|lung(3)	8						TGCTATCCAGGATAAGCTCTT	0.547																																					p.D99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	3						.						81.0	71.0	74.0					3																	126451949		2203	4300	6503	127934639	SO:0001583	missense	84303	exon4			BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.295G>A	3.37:g.126451949G>A	ENSP00000290913:p.Asp99Asn	Somatic		Capture	Illumina HiSeq	Phase_I	127934639	NM_032343	D6R9U0|D6RIB4|H8Y0Y7	Missense_Mutation	SNP	ENST00000290913.3	37	CCDS3041.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469897	0.43839	.	.	ENSG00000159685	ENST00000290913;ENST00000508789	T;T	0.54279	0.58;0.58	4.48	3.59	0.41128	.	0.111323	0.64402	D	0.000015	T	0.55955	0.1953	L	0.58101	1.795	0.34730	D	0.729698	P;P	0.51653	0.92;0.947	P;P	0.51101	0.578;0.659	T	0.67444	-0.5669	10	0.45353	T	0.12	-21.0292	10.4379	0.44445	0.0:0.197:0.803:0.0	.	99;99	D6R9U0;Q9BRQ6	.;CHCH6_HUMAN	N	99	ENSP00000290913:D99N;ENSP00000422912:D99N	ENSP00000290913:D99N	D	+	1	0	CHCHD6	127934639	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	3.396000	0.52565	1.078000	0.41014	0.591000	0.81541	GAT		0.547	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343	
RAB7A	7879	broad.mit.edu	37	3	128525368	128525368	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:128525368C>T	ENST00000265062.3	+	4	580	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAB7A_ENST00000485280.1_Intron|RAB7A_ENST00000482525.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	112					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P112S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CCAGGCCAGTCCCCGAGATCC	0.458																																					p.P112S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334T	3						.						105.0	104.0	104.0					3																	128525368		2203	4300	6503	130008058	SO:0001583	missense	7879	exon4			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.334C>T	3.37:g.128525368C>T	ENSP00000265062:p.Pro112Ser	Somatic		Capture	Illumina HiSeq	Phase_I	130008058	NM_004637	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405385	0.83230	.	.	ENSG00000075785	ENST00000265062;ENST00000464496	T;T	0.67698	-0.26;-0.28	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	.	.	.	.	T	0.59046	0.2165	L	0.27944	0.81	0.80722	D	1	B	0.33288	0.406	B	0.33196	0.159	T	0.61797	-0.6989	9	0.72032	D	0.01	-10.357	20.0098	0.97447	0.0:1.0:0.0:0.0	.	112	P51149	RAB7A_HUMAN	S	112	ENSP00000265062:P112S;ENSP00000417978:P112S	ENSP00000265062:P112S	P	+	1	0	RAB7A	130008058	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.006000	0.76329	2.809000	0.96659	0.650000	0.86243	CCC		0.458	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1		
MBD4	8930	broad.mit.edu	37	3	129150393	129150393	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:129150393T>G	ENST00000249910.1	-	8	1869	c.1694A>C	c.(1693-1695)aAa>aCa	p.K565T	MBD4_ENST00000429544.2_Missense_Mutation_p.K559T|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.K247T|MBD4_ENST00000503197.1_3'UTR|EFCAB12_ENST00000505956.1_5'Flank|EFCAB12_ENST00000326085.3_5'Flank	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	565					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.K565T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						GTCATGATATTTATTTAATTT	0.338								Base excision repair (BER), DNA glycosylases																													p.K565T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1694C	3						.						160.0	170.0	167.0					3																	129150393		2203	4300	6503	130633083	SO:0001583	missense	8930	exon8			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1694A>C	3.37:g.129150393T>G	ENSP00000249910:p.Lys565Thr	Somatic		Capture	Illumina HiSeq	Phase_I	130633083	NM_003925	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537149	0.45176	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000393278	T;T;T	0.45276	0.9;0.9;0.9	5.12	5.12	0.69794	DNA glycosylase (2);	0.354850	0.29730	N	0.011342	T	0.43255	0.1239	L	0.29908	0.895	0.36380	D	0.861841	P;D;D	0.56968	0.865;0.973;0.978	P;P;P	0.61874	0.5;0.688;0.895	T	0.42616	-0.9441	10	0.13853	T	0.58	-25.8406	8.9231	0.35623	0.2796:0.0:0.0:0.7204	.	247;559;565	Q2MD36;O95243-2;O95243	.;.;MBD4_HUMAN	T	559;565;247	ENSP00000394080:K559T;ENSP00000249910:K565T;ENSP00000376959:K247T	ENSP00000249910:K565T	K	-	2	0	MBD4	130633083	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.186000	0.42593	2.078000	0.62432	0.529000	0.55759	AAA		0.338	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	
PLXND1	23129	broad.mit.edu	37	3	129290352	129290352	+	Splice_Site	SNP	C	C	T	rs376067894		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:129290352C>T	ENST00000324093.4	-	17	3514	c.3336G>A	c.(3334-3336)acG>acA	p.T1112T	PLXND1_ENST00000393239.1_Splice_Site_p.T1112T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1112	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.T1112T(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AATGCCTCACCGTGGGCTCCC	0.657																																					p.T1112T	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3336A	3						.	C		1,4401		0,1,2200	38.0	40.0	39.0		3336	3.6	1.0	3		39	0,8600		0,0,4300	no	coding-synonymous-near-splice	PLXND1	NM_015103.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		1112/1926	129290352	1,13001	2201	4300	6501	130773042	SO:0001630	splice_region_variant	23129	exon17			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3336+1G>A	3.37:g.129290352C>T		Somatic		Capture	Illumina HiSeq	Phase_I	130773042	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1																																																																																				0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Silent
TMCC1	23023	broad.mit.edu	37	3	129373847	129373847	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:129373847G>A	ENST00000393238.3	-	5	1951	c.1611C>T	c.(1609-1611)atC>atT	p.I537I	TMCC1_ENST00000426664.2_Silent_p.I423I|TMCC1_ENST00000432054.2_Silent_p.I213I|TMCC1_ENST00000329333.5_Silent_p.I358I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	537						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I537I(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ACTGATACGCGATTTTTTCTT	0.418																																					p.I537I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1611T	3						.						155.0	153.0	154.0					3																	129373847		2203	4300	6503	130856537	SO:0001819	synonymous_variant	23023	exon5			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1611C>T	3.37:g.129373847G>A		Somatic		Capture	Illumina HiSeq	Phase_I	130856537	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	CCDS33855.1																																																																																				0.418	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
COL6A5	256076	broad.mit.edu	37	3	130159641	130159641	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:130159641C>A	ENST00000432398.2	+	35	6953	c.6459C>A	c.(6457-6459)ttC>ttA	p.F2153L	COL6A5_ENST00000265379.6_Missense_Mutation_p.F2153L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2153	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F2153L(1)|p.F192L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTGCGAAGTTCTTAAAGCCAT	0.348																																					p.F2153L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6459A	3						.						60.0	55.0	57.0					3																	130159641		1839	4089	5928	131642331	SO:0001583	missense	256076	exon35			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6459C>A	3.37:g.130159641C>A	ENSP00000390895:p.Phe2153Leu	Somatic		Capture	Illumina HiSeq	Phase_I	131642331	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.46|11.46	1.645680|1.645680	0.29246|0.29246	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157|ENST00000512836	T;T;T|.	0.12147|.	2.71;2.71;2.71|.	5.87|5.87	1.35|1.35	0.21983|0.21983	von Willebrand factor, type A (1);|.	0.000000|.	0.56097|.	D|.	0.000038|.	T|T	0.56016|0.56016	0.1957|0.1957	M|M	0.79693|0.79693	2.465|2.465	0.30954|0.30954	N|N	0.724423|0.724423	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.58370|0.58370	-0.7648|-0.7648	10|5	0.26408|.	T|.	0.33|.	.|.	7.4496|7.4496	0.27231|0.27231	0.0:0.5471:0.0:0.4529|0.0:0.5471:0.0:0.4529	.|.	2153;2153|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	L|I	2153;2153;96|405	ENSP00000390895:F2153L;ENSP00000265379:F2153L;ENSP00000362250:F96L|.	ENSP00000265379:F2153L|.	F|L	+|+	3|1	2|0	COL6A5|COL6A5	131642331|131642331	0.095000|0.095000	0.21747|0.21747	0.550000|0.550000	0.28217|0.28217	0.251000|0.251000	0.25915|0.25915	0.334000|0.334000	0.19787|0.19787	0.245000|0.245000	0.21373|0.21373	-0.150000|-0.150000	0.13652|0.13652	TTC|CTT		0.348	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A6	131873	broad.mit.edu	37	3	130368029	130368029	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:130368029G>A	ENST00000358511.6	+	32	5387	c.5356G>A	c.(5356-5358)Gac>Aac	p.D1786N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1786N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1786	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D1786N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCTGGTGAGAGACATTAAGGT	0.577																																					p.D1786N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5356A	3						.						47.0	48.0	47.0					3																	130368029		1981	4159	6140	131850719	SO:0001583	missense	131873	exon32			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5356G>A	3.37:g.130368029G>A	ENSP00000351310:p.Asp1786Asn	Somatic		Capture	Illumina HiSeq	Phase_I	131850719	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.309	-0.141271	0.06669	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.13657	2.57;2.57	5.3	4.43	0.53597	von Willebrand factor, type A (3);	.	.	.	.	T	0.09335	0.0230	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35599	-0.9782	9	0.19147	T	0.46	.	6.4917	0.22119	0.3129:0.0:0.6871:0.0	.	1786	A6NMZ7	CO6A6_HUMAN	N	1786	ENSP00000351310:D1786N;ENSP00000399236:D1786N	ENSP00000351310:D1786N	D	+	1	0	COL6A6	131850719	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	1.785000	0.38684	1.251000	0.43983	0.462000	0.41574	GAC		0.577	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
ATP2C1	27032	broad.mit.edu	37	3	130720144	130720144	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:130720144A>C	ENST00000510168.1	+	28	3260	c.2710A>C	c.(2710-2712)Aag>Cag	p.K904Q	ATP2C1_ENST00000504381.1_Missense_Mutation_p.K849Q|ATP2C1_ENST00000428331.2_Missense_Mutation_p.K904Q|ATP2C1_ENST00000359644.3_Missense_Mutation_p.K904Q|ATP2C1_ENST00000504948.1_Missense_Mutation_p.K888Q|ATP2C1_ENST00000505330.1_Missense_Mutation_p.K888Q|ATP2C1_ENST00000508532.1_Missense_Mutation_p.K904Q|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Missense_Mutation_p.K888Q|ATP2C1_ENST00000422190.2_Missense_Mutation_p.K904Q|ATP2C1_ENST00000513801.1_Missense_Mutation_p.K888Q|ATP2C1_ENST00000393221.4_Missense_Mutation_p.K938Q|ATP2C1_ENST00000533801.2_Missense_Mutation_p.K899Q			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	904					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.K904Q(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGCAGGGAAAAGATCCAGAA	0.373									Hailey-Hailey disease																												p.K888Q	Esophageal Squamous(99;456 1443 27647 34099 42636)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2662C	3						.						162.0	149.0	153.0					3																	130720144		2203	4300	6503	132202834	SO:0001583	missense	27032	exon27	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2710A>C	3.37:g.130720144A>C	ENSP00000427461:p.Lys904Gln	Somatic		Capture	Illumina HiSeq	Phase_I	132202834	NM_001199183	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.79|12.79	2.044987|2.044987	0.36085|0.36085	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D	.|0.93019	.|-3.1;-3.14;-3.08;-3.09;-3.15;-3.1;-3.1;-3.1;-3.08;-3.1;-3.09;-3.08	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.250832|0.250832	0.39985|0.39985	N|N	0.001201|0.001201	D|D	0.89795|0.89795	0.6818|0.6818	L|L	0.34521|0.34521	1.04|1.04	0.32140|0.32140	N|N	0.585625|0.585625	.|B;B;B;B;B;B	.|0.18968	.|0.032;0.019;0.003;0.013;0.005;0.002	.|B;B;B;B;B;B	.|0.17722	.|0.019;0.011;0.011;0.019;0.004;0.005	D|D	0.88981|0.88981	0.3408|0.3408	6|10	.|0.66056	.|D	.|0.02	.|.	15.1956|15.1956	0.73084|0.73084	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|938;899;938;904;938;904	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194	.|.;.;.;.;.;AT2C1_HUMAN	N|Q	857|888;849;888;938;899;904;904;888;888;904;904;904;903	.|ENSP00000423774:K888Q;ENSP00000425320:K849Q;ENSP00000421326:K888Q;ENSP00000376914:K938Q;ENSP00000432956:K899Q;ENSP00000427461:K904Q;ENSP00000424783:K904Q;ENSP00000423330:K888Q;ENSP00000422872:K888Q;ENSP00000395809:K904Q;ENSP00000352665:K904Q;ENSP00000402677:K904Q	.|ENSP00000306816:K903Q	K|K	+|+	3|1	2|0	ATP2C1|ATP2C1	132202834|132202834	0.983000|0.983000	0.35010|0.35010	0.992000|0.992000	0.48379|0.48379	0.823000|0.823000	0.46562|0.46562	2.678000|2.678000	0.46900|0.46900	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.373	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	
MRPL3	11222	broad.mit.edu	37	3	131186980	131186980	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:131186980G>T	ENST00000264995.3	-	9	996	c.849C>A	c.(847-849)atC>atA	p.I283I	MRPL3_ENST00000425847.2_Silent_p.I310I	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	283					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I283I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CATTTACATAGATTATGTTGT	0.284																																					p.I283I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849A	3						.						129.0	131.0	131.0					3																	131186980		2202	4285	6487	132669670	SO:0001819	synonymous_variant	11222	exon9			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.849C>A	3.37:g.131186980G>T		Somatic		Capture	Illumina HiSeq	Phase_I	132669670	NM_007208	Q6IBT2	Silent	SNP	ENST00000264995.3	37	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	8.849	0.944109	0.18281	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.71	3.91	0.45181	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-15.3097	3.8108	0.08796	0.2481:0.0:0.5781:0.1737	.	.	.	.	I	298	.	.	L	-	1	2	MRPL3	132669670	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.758000	0.38410	1.408000	0.46895	0.585000	0.79938	CTA		0.284	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208	
ACPP	55	broad.mit.edu	37	3	132051046	132051046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:132051046G>A	ENST00000336375.5	+	4	404	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	ACPP_ENST00000351273.7_Missense_Mutation_p.R105Q|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.R105Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.R105Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTTTATATTCGAAGCACAGAC	0.463																																					p.R105Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G314A	3						.						148.0	147.0	147.0					3																	132051046		2203	4300	6503	133533736	SO:0001583	missense	55	exon4				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.314G>A	3.37:g.132051046G>A	ENSP00000337471:p.Arg105Gln	Somatic		Capture	Illumina HiSeq	Phase_I	133533736	NM_001099	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	9.496	1.101942	0.20632	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.99	3.19	0.36642	.	0.351400	0.24818	N	0.035352	T	0.19327	0.0464	L	0.37750	1.13	0.30560	N	0.764556	P;P;B	0.42584	0.784;0.743;0.262	B;B;B	0.27887	0.084;0.05;0.041	T	0.16247	-1.0409	10	0.17369	T	0.5	.	9.0403	0.36314	0.3064:0.0:0.6936:0.0	.	105;105;105	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Q	105;76;105;105	ENSP00000337471:R105Q;ENSP00000418366:R76Q;ENSP00000417744:R105Q;ENSP00000323036:R105Q	ENSP00000337471:R105Q	R	+	2	0	ACPP	133533736	0.976000	0.34144	0.478000	0.27316	0.083000	0.17756	1.774000	0.38573	0.393000	0.25203	0.655000	0.94253	CGA		0.463	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099	
TF	7018	broad.mit.edu	37	3	133485147	133485147	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:133485147G>A	ENST00000402696.3	+	12	1841	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	TF_ENST00000264998.3_Silent_p.K325K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	452	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.K452K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CAGTGGTGAAGAAATCAGCTT	0.498																																					p.K452K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1356A	3						.						218.0	212.0	214.0					3																	133485147		2203	4300	6503	134967837	SO:0001819	synonymous_variant	7018	exon12				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1356G>A	3.37:g.133485147G>A		Somatic		Capture	Illumina HiSeq	Phase_I	134967837	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	CCDS3080.1																																																																																				0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
RYK	6259	broad.mit.edu	37	3	133894820	133894820	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:133894820C>T	ENST00000427044.2	-	13	1412	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	RYK_ENST00000296084.4_Missense_Mutation_p.A458T			P34925	RYK_HUMAN	receptor-like tyrosine kinase	454					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.A458T(1)		lung(1)|ovary(3)	4						TCCCTTCTGGCCAGGTAGCTC	0.473																																					p.G456D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1367A	3						.						50.0	51.0	50.0					3																	133894820		2022	4192	6214	135377510	SO:0001583	missense	6259	exon12			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.802G>A	3.37:g.133894820C>T	ENSP00000399527:p.Ala268Thr	Somatic		Capture	Illumina HiSeq	Phase_I	135377510	NM_002958	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.781428|2.781428	0.49891|0.49891	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;D|.	0.89123|.	0.78;-2.47|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.155567|.	0.56097|.	D|.	0.000027|.	T|.	0.66607|.	0.2806|.	L|L	0.37750|0.37750	1.13|1.13	0.58432|0.58432	D|D	0.999994|0.999994	P;P|.	0.39352|.	0.669;0.617|.	B;B|.	0.40602|.	0.334;0.225|.	T|.	0.59794|.	-0.7387|.	10|.	0.40728|.	T|.	0.16|.	-5.0345|-5.0345	20.1253|20.1253	0.97977|0.97977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	454;457|.	P34925;P34925-2|.	RYK_HUMAN;.|.	T|X	458;268|436	ENSP00000296084:A458T;ENSP00000399527:A268T|.	ENSP00000296084:A458T|.	A|W	-|-	1|3	0|0	RYK|RYK	135377510|135377510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.581000|4.581000	0.60949|0.60949	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.473	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861	
RYK	6259	broad.mit.edu	37	3	133907709	133907709	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:133907709T>G	ENST00000427044.2	-	10	1117	c.507A>C	c.(505-507)gaA>gaC	p.E169D	RYK_ENST00000296084.4_Missense_Mutation_p.E359D			P34925	RYK_HUMAN	receptor-like tyrosine kinase	355	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.E359D(1)		lung(1)|ovary(3)	4						ATGCTTGTTTTTCTTTATTTG	0.333																																					p.K358Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1072C	3						.						97.0	94.0	95.0					3																	133907709		1803	4064	5867	135390399	SO:0001583	missense	6259	exon9			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.507A>C	3.37:g.133907709T>G	ENSP00000399527:p.Glu169Asp	Somatic		Capture	Illumina HiSeq	Phase_I	135390399	NM_002958	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.53|15.53	2.859695|2.859695	0.51376|0.51376	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;D|.	0.88741|.	0.83;-2.42|.	5.35|5.35	4.15|4.15	0.48705|0.48705	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54679|0.54679	0.1873|0.1873	L|L	0.43701|0.43701	1.375|1.375	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.63046|.	0.992;0.99|.	D;D|.	0.76071|.	0.987;0.979|.	T|T	0.48692|0.48692	-0.9013|-0.9013	10|5	0.21014|.	T|.	0.42|.	-8.0319|-8.0319	8.8291|8.8291	0.35074|0.35074	0.0:0.214:0.0:0.786|0.0:0.214:0.0:0.786	.|.	355;358|.	P34925;P34925-2|.	RYK_HUMAN;.|.	D|T	359;169|338	ENSP00000296084:E359D;ENSP00000399527:E169D|.	ENSP00000296084:E359D|.	E|K	-|-	3|2	2|0	RYK|RYK	135390399|135390399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.651000|0.651000	0.24873|0.24873	0.919000|0.919000	0.36945|0.36945	0.528000|0.528000	0.53228|0.53228	GAA|AAA		0.333	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861	
MSL2	55167	broad.mit.edu	37	3	135871412	135871412	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:135871412T>G	ENST00000309993.2	-	2	1043	c.311A>C	c.(310-312)aAa>aCa	p.K104T	MSL2_ENST00000434835.2_Missense_Mutation_p.K30T	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	104	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K104T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCATAGTTTTTTGTAGCAGTT	0.388																																					p.K104T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A311C	3						.						209.0	194.0	199.0					3																	135871412		2203	4300	6503	137354102	SO:0001583	missense	55167	exon2			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.311A>C	3.37:g.135871412T>G	ENSP00000311827:p.Lys104Thr	Somatic		Capture	Illumina HiSeq	Phase_I	137354102	NM_018133	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919535	0.52653	.	.	ENSG00000174579	ENST00000309993;ENST00000434835;ENST00000481989;ENST00000491050;ENST00000473093	.	.	.	6.17	5.01	0.66863	.	0.058834	0.64402	D	0.000003	T	0.62380	0.2423	L	0.59436	1.845	0.49051	D	0.999745	P	0.50528	0.936	P	0.50270	0.636	T	0.65261	-0.6211	9	0.72032	D	0.01	-8.902	11.7296	0.51728	0.0:0.0683:0.0:0.9316	.	104	Q9HCI7	MSL2_HUMAN	T	104;30;30;30;30	.	ENSP00000311827:K104T	K	-	2	0	MSL2	137354102	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.029000	0.64121	1.146000	0.42352	0.533000	0.62120	AAA		0.388	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
STAG1	10274	broad.mit.edu	37	3	136076581	136076581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:136076581G>A	ENST00000383202.2	-	28	3302	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	STAG1_ENST00000236698.5_Nonsense_Mutation_p.R1016*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.R756*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.R600*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1016					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R1016*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTGTCCTGTCGAAGAAGTTTA	0.294																																					p.R1016X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3046T	3						.						90.0	89.0	89.0					3																	136076581		2201	4298	6499	137559271	SO:0001587	stop_gained	10274	exon28			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3046C>T	3.37:g.136076581G>A	ENSP00000372689:p.Arg1016*	Somatic		Capture	Illumina HiSeq	Phase_I	137559271	NM_005862	O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	39	7.736113	0.98462	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	14.609	0.68501	0.0:0.0:0.8539:0.1461	.	.	.	.	X	1016;1016;756;600	.	ENSP00000236698:R1016X	R	-	1	2	STAG1	137559271	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.013000	0.88655	2.495000	0.84180	0.650000	0.86243	CGA		0.294	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
DZIP1L	199221	broad.mit.edu	37	3	137781712	137781712	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:137781712C>A	ENST00000327532.2	-	16	2612	c.2250G>T	c.(2248-2250)gaG>gaT	p.E750D		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	750					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.E750D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGCCAAACTTCTCTGGGAGCT	0.572																																					p.E750D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2250T	3						.						88.0	89.0	89.0					3																	137781712		2203	4300	6503	139264402	SO:0001583	missense	199221	exon16			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2250G>T	3.37:g.137781712C>A	ENSP00000332148:p.Glu750Asp	Somatic		Capture	Illumina HiSeq	Phase_I	139264402	NM_173543	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482117	0.26598	.	.	ENSG00000158163	ENST00000327532	T	0.12672	2.66	4.9	3.01	0.34805	.	0.107097	0.39687	N	0.001298	T	0.10680	0.0261	L	0.34521	1.04	0.22762	N	0.998764	P	0.52842	0.956	P	0.45071	0.468	T	0.15378	-1.0439	10	0.36615	T	0.2	-25.2576	5.7821	0.18312	0.0:0.691:0.1992:0.1099	.	750	Q8IYY4	DZI1L_HUMAN	D	750	ENSP00000332148:E750D	ENSP00000332148:E750D	E	-	3	2	DZIP1L	139264402	0.001000	0.12720	0.099000	0.21106	0.161000	0.22273	-0.022000	0.12480	0.401000	0.25424	0.563000	0.77884	GAG		0.572	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
ESYT3	83850	broad.mit.edu	37	3	138192445	138192445	+	Missense_Mutation	SNP	C	C	T	rs372213949		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:138192445C>T	ENST00000389567.4	+	19	2491	c.2305C>T	c.(2305-2307)Cgc>Tgc	p.R769C	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	769	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.R769C(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGTCTGCGGCGCTGCCTCAG	0.562																																					p.R769C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2305T	3						.	C	CYS/ARG	0,4150		0,0,2075	88.0	95.0	93.0		2305	4.8	1.0	3		93	1,8429		0,1,4214	no	missense	ESYT3	NM_031913.3	180	0,1,6289	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	769/887	138192445	1,12579	2075	4215	6290	139675135	SO:0001583	missense	83850	exon19			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2305C>T	3.37:g.138192445C>T	ENSP00000374218:p.Arg769Cys	Somatic		Capture	Illumina HiSeq	Phase_I	139675135	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469821	0.63625	0.0	1.19E-4	ENSG00000158220	ENST00000389567	T	0.08102	3.13	5.66	4.78	0.61160	C2 calcium/lipid-binding domain, CaLB (1);	0.656799	0.14893	N	0.292311	T	0.10423	0.0255	L	0.46885	1.475	0.80722	D	1	P	0.50617	0.937	B	0.40565	0.333	T	0.06110	-1.0845	10	0.72032	D	0.01	-12.5171	13.7942	0.63160	0.1545:0.8455:0.0:0.0	.	769	A0FGR9	ESYT3_HUMAN	C	769	ENSP00000374218:R769C	ENSP00000374218:R769C	R	+	1	0	ESYT3	139675135	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.138000	0.42140	1.366000	0.46076	0.650000	0.86243	CGC		0.562	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
CEP70	80321	broad.mit.edu	37	3	138289218	138289218	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:138289218C>A	ENST00000264982.3	-	6	673	c.407G>T	c.(406-408)aGg>aTg	p.R136M	CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Missense_Mutation_p.R136M|CEP70_ENST00000481834.1_Missense_Mutation_p.R136M|CEP70_ENST00000464035.1_Missense_Mutation_p.R136M|CEP70_ENST00000542237.1_Missense_Mutation_p.R116M|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	136					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.R136M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTGGCAAGCCCTACTTAGTGA	0.368																																					p.R136M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407T	3						.						147.0	137.0	140.0					3																	138289218		2202	4298	6500	139771908	SO:0001583	missense	80321	exon6			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.407G>T	3.37:g.138289218C>A	ENSP00000264982:p.Arg136Met	Somatic		Capture	Illumina HiSeq	Phase_I	139771908	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	8.847	0.943607	0.18281	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T	0.46451	1.47;1.48;1.47;1.48;1.47;0.88;0.88;0.87	4.98	4.03	0.46877	.	0.165941	0.51477	D	0.000085	T	0.29524	0.0736	L	0.41236	1.265	0.29615	N	0.846638	P;P;P	0.38597	0.639;0.454;0.639	B;B;B	0.32928	0.155;0.08;0.155	T	0.32188	-0.9916	10	0.48119	T	0.1	-11.1009	9.653	0.39908	0.2226:0.7774:0.0:0.0	.	116;136;136	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	M	136;116;136;118;136;115;116;136	ENSP00000264982:R136M;ENSP00000444128:R116M;ENSP00000419231:R136M;ENSP00000419833:R118M;ENSP00000417465:R136M;ENSP00000418131:R115M;ENSP00000417819:R116M;ENSP00000419743:R136M	ENSP00000264982:R136M	R	-	2	0	CEP70	139771908	0.986000	0.35501	0.999000	0.59377	0.195000	0.23768	1.925000	0.40074	2.589000	0.87451	0.650000	0.86243	AGG		0.368	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
MRPS22	56945	broad.mit.edu	37	3	139074621	139074621	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:139074621A>C	ENST00000495075.1	+	9	1408	c.976A>C	c.(976-978)Aat>Cat	p.N326H	MRPS22_ENST00000310776.4_Missense_Mutation_p.N326H|MRPS22_ENST00000465056.1_Missense_Mutation_p.N325H|MRPS22_ENST00000478464.1_Missense_Mutation_p.N285H			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	326						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.N326H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TGAGGGAATAAATTTAATCAA	0.418																																					p.N326H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A976C	3						.						54.0	57.0	56.0					3																	139074621		2203	4300	6503	140557311	SO:0001583	missense	56945	exon7			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.976A>C	3.37:g.139074621A>C	ENSP00000418008:p.Asn326His	Somatic		Capture	Illumina HiSeq	Phase_I	140557311	NM_020191	Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.647614	0.29246	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.69	5.76	0.663	0.17885	.	0.432153	0.27558	N	0.018829	T	0.70518	0.3233	L	0.36672	1.1	0.50632	D	0.999884	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.11329	0.006;0.004;0.002	T	0.58399	-0.7643	10	0.39692	T	0.17	-0.6942	6.012	0.19582	0.2925:0.389:0.3185:0.0	.	285;325;326	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	H	326;326;325;285	ENSP00000418008:N326H;ENSP00000310785:N326H;ENSP00000418233:N325H;ENSP00000419303:N285H	ENSP00000310785:N326H	N	+	1	0	MRPS22	140557311	0.796000	0.28864	0.006000	0.13384	0.968000	0.65278	1.265000	0.33027	0.195000	0.20347	0.533000	0.62120	AAT		0.418	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191	
COPB2	9276	broad.mit.edu	37	3	139102264	139102264	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:139102264T>C	ENST00000333188.5	-	2	198	c.17A>G	c.(16-18)gAt>gGt	p.D6G	COPB2_ENST00000507777.1_5'UTR|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	6					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.D6G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCTTTTGATATCAAGTCGCAG	0.353																																					p.D6G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A17G	3						.						82.0	72.0	75.0					3																	139102264		2203	4299	6502	140584954	SO:0001583	missense	9276	exon2			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.17A>G	3.37:g.139102264T>C	ENSP00000329419:p.Asp6Gly	Somatic		Capture	Illumina HiSeq	Phase_I	140584954	NM_004766	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067063	0.76301	.	.	ENSG00000184432	ENST00000333188;ENST00000515006	T;T	0.81078	-1.45;-1.45	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	H	0.95437	3.67	0.80722	D	1	B;P;B	0.46020	0.011;0.871;0.299	B;P;B	0.51550	0.02;0.673;0.219	D	0.92734	0.6202	10	0.62326	D	0.03	-14.222	15.905	0.79419	0.0:0.0:0.0:1.0	.	6;6;6	B4E2C9;D6R997;P35606	.;.;COPB2_HUMAN	G	6	ENSP00000329419:D6G;ENSP00000423271:D6G	ENSP00000329419:D6G	D	-	2	0	COPB2	140584954	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.013000	0.88655	2.150000	0.67090	0.533000	0.62120	GAT		0.353	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
TMEM43	79188	broad.mit.edu	37	3	14176286	14176286	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:14176286C>T	ENST00000306077.4	+	8	854	c.600C>T	c.(598-600)gtC>gtT	p.V200V	RP11-434D12.1_ENST00000608606.1_5'Flank	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	200					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V200V(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TCGACAAAGTCGACAACTTCA	0.532																																					p.V200V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600T	3						.						99.0	91.0	94.0					3																	14176286		2203	4300	6503	14151287	SO:0001819	synonymous_variant	79188	exon8			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.600C>T	3.37:g.14176286C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14151287	NM_024334	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Silent	SNP	ENST00000306077.4	37	CCDS2618.1																																																																																				0.532	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334	
NMNAT3	349565	broad.mit.edu	37	3	139297744	139297744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:139297744G>A	ENST00000296202.7	-	4	644	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000406164.1_Missense_Mutation_p.A51V|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000511444.1_Missense_Mutation_p.A51V|NMNAT3_ENST00000339837.5_Missense_Mutation_p.A51V|NMNAT3_ENST00000512391.1_Missense_Mutation_p.A88V			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	88					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.A51V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATCCACTGTGCCTGCTCACT	0.582																																					p.A51V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C152T	3						.						135.0	107.0	117.0					3																	139297744		2203	4300	6503	140780434	SO:0001583	missense	349565	exon3			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.263C>T	3.37:g.139297744G>A	ENSP00000296202:p.Ala88Val	Somatic		Capture	Illumina HiSeq	Phase_I	140780434	NM_178177	B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37		.	.	.	.	.	.	.	.	.	.	G	12.90	2.076365	0.36662	.	.	ENSG00000163864	ENST00000406164;ENST00000339837;ENST00000296202;ENST00000511444;ENST00000512391;ENST00000509291	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.76	-3.3	0.05003	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	1.308670	0.04704	N	0.416408	D	0.88570	0.6472	N	0.10760	0.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.79871	-0.1620	10	0.39692	T	0.17	-1.5941	4.3288	0.11053	0.41:0.0:0.2689:0.3212	.	88	Q96T66	NMNA3_HUMAN	V	51;51;88;51;88;88	ENSP00000384319:A51V;ENSP00000340523:A51V;ENSP00000296202:A88V;ENSP00000425041:A51V;ENSP00000426357:A88V;ENSP00000427634:A88V	ENSP00000296202:A88V	A	-	2	0	NMNAT3	140780434	0.001000	0.12720	0.006000	0.13384	0.932000	0.56968	0.646000	0.24797	-0.325000	0.08577	0.655000	0.94253	GCA		0.582	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177	
GRK7	131890	broad.mit.edu	37	3	141499361	141499361	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:141499361C>A	ENST00000264952.2	+	2	895	c.758C>A	c.(757-759)tCt>tAt	p.S253Y		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> F (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.S253F(1)|p.S253Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCATTGTCTCTCTGGCCTAT	0.507																																					p.S253Y												GRK7,skin,NS,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C758A	3						.						126.0	123.0	124.0					3																	141499361		2203	4300	6503	142982051	SO:0001583	missense	131890	exon2				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.758C>A	3.37:g.141499361C>A	ENSP00000264952:p.Ser253Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	142982051	NM_139209		Missense_Mutation	SNP	ENST00000264952.2	37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809801	0.70797	.	.	ENSG00000114124	ENST00000264952	T	0.26067	1.76	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.168937	0.51477	D	0.000090	T	0.40171	0.1106	L	0.52206	1.635	0.35346	D	0.786922	D	0.62365	0.991	P	0.57620	0.824	T	0.52749	-0.8534	10	0.87932	D	0	-15.9991	14.5441	0.68015	0.0:0.8538:0.1462:0.0	.	253	Q8WTQ7	GRK7_HUMAN	Y	253	ENSP00000264952:S253Y	ENSP00000264952:S253Y	S	+	2	0	GRK7	142982051	0.972000	0.33761	0.996000	0.52242	0.998000	0.95712	2.818000	0.48041	2.466000	0.83321	0.655000	0.94253	TCT		0.507	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209	
ATR	545	broad.mit.edu	37	3	142226864	142226864	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:142226864C>T	ENST00000350721.4	-	28	5061	c.4940G>A	c.(4939-4941)cGc>cAc	p.R1647H	ATR_ENST00000383101.3_Missense_Mutation_p.R1583H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1647	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1647H(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCTTTGGAGCGAAAGGAAGC	0.383								Other conserved DNA damage response genes																													p.R1647H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G4940A	3						.						86.0	83.0	84.0					3																	142226864		2203	4300	6503	143709554	SO:0001583	missense	545	exon28			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4940G>A	3.37:g.142226864C>T	ENSP00000343741:p.Arg1647His	Somatic		Capture	Illumina HiSeq	Phase_I	143709554	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486482	0.84854	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.21734	1.99;1.99	5.35	5.35	0.76521	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.52364	1.645	0.80722	D	1	P	0.51057	0.941	B	0.33121	0.158	T	0.06023	-1.0850	10	0.48119	T	0.1	-9.2599	19.0547	0.93058	0.0:1.0:0.0:0.0	.	1647	Q13535	ATR_HUMAN	H	1647;1583	ENSP00000343741:R1647H;ENSP00000372581:R1583H	ENSP00000343741:R1647H	R	-	2	0	ATR	143709554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.610000	0.82949	2.501000	0.84356	0.655000	0.94253	CGC		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142268448	142268448	+	Missense_Mutation	SNP	C	C	T	rs564283952		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:142268448C>T	ENST00000350721.4	-	15	3165	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	ATR_ENST00000383101.3_Missense_Mutation_p.R951Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1015					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1015Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCTAAAGTTCGAATGAGAGC	0.343								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0008	0.0	5008	,	,		15026	0.0		0.0	False		,,,				2504	0.0				p.R1015Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3044A	3						.						50.0	52.0	51.0					3																	142268448		2200	4297	6497	143751138	SO:0001583	missense	545	exon15			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3044G>A	3.37:g.142268448C>T	ENSP00000343741:p.Arg1015Gln	Somatic		Capture	Illumina HiSeq	Phase_I	143751138	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345672	0.82022	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.65364	-0.15;-0.15	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.077145	0.52532	D	0.000069	T	0.50326	0.1609	L	0.27053	0.805	0.80722	D	1	D	0.60160	0.987	B	0.41988	0.372	T	0.47195	-0.9136	10	0.21014	T	0.42	-9.6199	17.7702	0.88489	0.0:1.0:0.0:0.0	.	1015	Q13535	ATR_HUMAN	Q	1015;951	ENSP00000343741:R1015Q;ENSP00000372581:R951Q	ENSP00000343741:R1015Q	R	-	2	0	ATR	143751138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.317000	0.79018	2.635000	0.89317	0.655000	0.94253	CGA		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
SLC9A9	285195	broad.mit.edu	37	3	143515722	143515722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:143515722G>T	ENST00000316549.6	-	3	610	c.402C>A	c.(400-402)ttC>ttA	p.F134L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	134					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.F134L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAACATTGAAGAAGATTTCTG	0.299																																					p.F134L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C402A	3						.						56.0	62.0	60.0					3																	143515722		2203	4298	6501	144998412	SO:0001583	missense	285195	exon3			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.402C>A	3.37:g.143515722G>T	ENSP00000320246:p.Phe134Leu	Somatic		Capture	Illumina HiSeq	Phase_I	144998412	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094693	0.94149	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.10860	2.83	5.45	5.45	0.79879	Cation/H+ exchanger (1);	0.346948	0.27807	N	0.017779	T	0.40670	0.1126	M	0.87971	2.92	0.58432	D	0.999999	D	0.57257	0.979	D	0.74023	0.982	T	0.41466	-0.9507	10	0.87932	D	0	.	18.0489	0.89341	0.0:0.0:1.0:0.0	.	134	Q8IVB4	SL9A9_HUMAN	L	134;17	ENSP00000320246:F134L	ENSP00000320246:F134L	F	-	3	2	SLC9A9	144998412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.193000	0.58385	2.553000	0.86117	0.637000	0.83480	TTC		0.299	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
PLSCR4	57088	broad.mit.edu	37	3	145913035	145913035	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:145913035C>A	ENST00000354952.2	-	8	1061	c.821G>T	c.(820-822)aGt>aTt	p.S274I	PLSCR4_ENST00000446574.2_Missense_Mutation_p.S274I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.S184I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.S169I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S274I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	274					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.S274I(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CCGGATAATACTGCCGATGTT	0.418																																					p.S274I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821T	3						.						161.0	135.0	144.0					3																	145913035		2203	4300	6503	147395725	SO:0001583	missense	57088	exon8			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.821G>T	3.37:g.145913035C>A	ENSP00000347038:p.Ser274Ile	Somatic		Capture	Illumina HiSeq	Phase_I	147395725	NM_020353	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392503	0.42410	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.30448	1.53;1.81;1.81;1.53;1.53	4.75	0.443	0.16587	.	0.341515	0.29028	N	0.013368	T	0.32255	0.0823	L	0.58428	1.81	0.09310	N	1	P;P	0.47484	0.896;0.896	P;P	0.49192	0.602;0.478	T	0.16571	-1.0398	10	0.87932	D	0	.	5.2494	0.15514	0.0:0.4594:0.1407:0.3998	.	184;274	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	I	274;184;169;274;274	ENSP00000347038:S274I;ENSP00000372561:S184I;ENSP00000415605:S169I;ENSP00000399315:S274I;ENSP00000419040:S274I	ENSP00000347038:S274I	S	-	2	0	PLSCR4	147395725	0.000000	0.05858	0.025000	0.17156	0.003000	0.03518	0.129000	0.15830	-0.035000	0.13691	-0.229000	0.12294	AGT		0.418	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353	
PLSCR2	57047	broad.mit.edu	37	3	146167103	146167103	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:146167103A>G	ENST00000497985.1	-	8	1193	c.754T>C	c.(754-756)Tct>Cct	p.S252P	PLSCR2_ENST00000336685.2_Missense_Mutation_p.S179P	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	252					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.S179P(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAAAACCCAGACCAGTGCTTA	0.348																																					p.S179P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T535C	3						.						135.0	138.0	137.0					3																	146167103		2203	4300	6503	147649793	SO:0001583	missense	57047	exon7				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.754T>C	3.37:g.146167103A>G	ENSP00000420132:p.Ser252Pro	Somatic		Capture	Illumina HiSeq	Phase_I	147649793	NM_020359	B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.118455	0.37339	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985	T;T	0.22336	1.96;1.96	3.34	-6.69	0.01772	.	1.680630	0.04906	U	0.452337	T	0.30008	0.0751	M	0.66939	2.045	0.29818	N	0.831076	D;D	0.53619	0.961;0.96	P;P	0.59825	0.864;0.765	T	0.40534	-0.9558	10	0.27082	T	0.32	.	2.2615	0.04068	0.5002:0.1407:0.0907:0.2684	.	272;179	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	P	179;271;252	ENSP00000338707:S179P;ENSP00000420132:S252P	ENSP00000338707:S179P	S	-	1	0	PLSCR2	147649793	0.009000	0.17119	0.005000	0.12908	0.133000	0.20885	-1.187000	0.03067	-2.112000	0.00835	-1.731000	0.00696	TCT		0.348	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	
C3orf20	84077	broad.mit.edu	37	3	14801483	14801483	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:14801483C>A	ENST00000253697.3	+	14	2782	c.2330C>A	c.(2329-2331)tCt>tAt	p.S777Y	C3orf20_ENST00000435614.1_Missense_Mutation_p.S655Y|C3orf20_ENST00000412910.1_Missense_Mutation_p.S655Y	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	777						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S777Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AAGAAGAACTCTGTGGTGCAG	0.597																																					p.S655Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1964A	3						.						81.0	74.0	76.0					3																	14801483		2203	4300	6503	14776487	SO:0001583	missense	84077	exon14			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2330C>A	3.37:g.14801483C>A	ENSP00000253697:p.Ser777Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	14776487	NM_001184958	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734038	0.30684	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08634	3.36;3.07;3.07	4.85	3.0	0.34707	.	0.740503	0.11500	N	0.557759	T	0.11153	0.0272	N	0.22421	0.69	0.22185	N	0.999302	P;P	0.49447	0.924;0.924	P;P	0.51135	0.66;0.66	T	0.27226	-1.0080	10	0.66056	D	0.02	-1.4562	11.3662	0.49673	0.0:0.6448:0.3552:0.0	.	655;777	Q8ND61-2;Q8ND61	.;CC020_HUMAN	Y	777;655;655	ENSP00000253697:S777Y;ENSP00000402933:S655Y;ENSP00000396081:S655Y	ENSP00000253697:S777Y	S	+	2	0	C3orf20	14776487	0.000000	0.05858	0.892000	0.35008	0.062000	0.15995	0.355000	0.20163	0.435000	0.26365	0.491000	0.48974	TCT		0.597	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
PLSCR1	5359	broad.mit.edu	37	3	146239744	146239744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:146239744C>T	ENST00000342435.4	-	6	862	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.R144Q|PLSCR1_ENST00000448787.2_Missense_Mutation_p.R70Q	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	151					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)	p.R151Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACAGCAATTTCGGGTACAGCA	0.383																																					p.R151Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	3						.						103.0	108.0	106.0					3																	146239744		2203	4300	6503	147722434	SO:0001583	missense	5359	exon6			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.452G>A	3.37:g.146239744C>T	ENSP00000345494:p.Arg151Gln	Somatic		Capture	Illumina HiSeq	Phase_I	147722434	NM_021105	B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	.	33	5.290991	0.95546	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666;ENST00000486631;ENST00000472349	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	5.45	4.55	0.56014	.	0.000000	0.31624	U	0.007340	T	0.81418	0.4818	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.87685	0.2550	10	0.87932	D	0	.	15.5877	0.76499	0.1382:0.8618:0.0:0.0	.	70;151	B4DTE8;O15162	.;PLS1_HUMAN	Q	151;144;70;127;70;151	ENSP00000345494:R151Q;ENSP00000417792:R144Q;ENSP00000411675:R70Q;ENSP00000418103:R127Q;ENSP00000418550:R70Q;ENSP00000420523:R151Q	ENSP00000345494:R151Q	R	-	2	0	PLSCR1	147722434	0.103000	0.21917	0.954000	0.39281	0.991000	0.79684	3.733000	0.55029	2.555000	0.86185	0.655000	0.94253	CGA		0.383	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105	
ZIC4	84107	broad.mit.edu	37	3	147113650	147113650	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:147113650C>T	ENST00000383075.3	-	3	1189	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	ZIC4_ENST00000484399.1_Missense_Mutation_p.R226Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.R276Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.R226Q|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.R264Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	226						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R226Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGTGTGAGTTCGTTTGTGTAT	0.562																																					p.R276Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G827A	3						.						74.0	85.0	81.0					3																	147113650		2155	4286	6441	148596340	SO:0001583	missense	84107	exon3			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.677G>A	3.37:g.147113650C>T	ENSP00000372553:p.Arg226Gln	Somatic		Capture	Illumina HiSeq	Phase_I	148596340	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425819	0.83667	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.34275	1.84;1.84;1.84;1.84;1.84;1.37	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000794	T	0.60728	0.2291	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	T	0.64058	-0.6496	10	0.87932	D	0	.	18.8843	0.92370	0.0:1.0:0.0:0.0	.	276;226	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Q	226;264;276;226;226;226	ENSP00000372553:R226Q;ENSP00000397695:R264Q;ENSP00000435509:R276Q;ENSP00000417855:R226Q;ENSP00000420775:R226Q;ENSP00000420627:R226Q	ENSP00000372553:R226Q	R	-	2	0	ZIC4	148596340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.460000	0.83146	0.561000	0.74099	CGA		0.562	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
FGD5	152273	broad.mit.edu	37	3	14967682	14967682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:14967682C>A	ENST00000285046.5	+	18	4284	c.4174C>A	c.(4174-4176)Ctc>Atc	p.L1392I	FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Intron	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1392	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L1151I(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGCAAAGTTCTCTACACCTA	0.557											OREG0015361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L1392I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4174A	3						.						124.0	135.0	131.0					3																	14967682		2054	4205	6259	14942686	SO:0001583	missense	152273	exon18			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.4174C>A	3.37:g.14967682C>A	ENSP00000285046:p.Leu1392Ile	Somatic	699	Capture	Illumina HiSeq	Phase_I	14942686	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185422	0.94885	.	.	ENSG00000154783	ENST00000285046	T	0.42513	0.97	5.61	5.61	0.85477	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000100	T	0.71459	0.3342	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76217	-0.3040	10	0.87932	D	0	-34.822	19.6345	0.95724	0.0:1.0:0.0:0.0	.	1392	Q6ZNL6	FGD5_HUMAN	I	1392	ENSP00000285046:L1392I	ENSP00000285046:L1392I	L	+	1	0	FGD5	14942686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.223000	0.78033	2.638000	0.89438	0.491000	0.48974	CTC		0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
NR2C2	7182	broad.mit.edu	37	3	15055251	15055251	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:15055251A>G	ENST00000425241.1	+	3	590	c.228A>G	c.(226-228)caA>caG	p.Q76Q	NR2C2_ENST00000406272.2_Silent_p.Q76Q|NR2C2_ENST00000323373.6_Silent_p.Q95Q|NR2C2_ENST00000393102.3_Silent_p.Q76Q			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	76					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q95Q(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCGCCAAGCAACTCATATTCA	0.537																																					p.Q95Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A285G	3						.						97.0	82.0	87.0					3																	15055251		2203	4300	6503	15030255	SO:0001819	synonymous_variant	7182	exon4			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.228A>G	3.37:g.15055251A>G		Somatic		Capture	Illumina HiSeq	Phase_I	15030255	NM_003298	A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37																																																																																					0.537	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
ZIC1	7545	broad.mit.edu	37	3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532																																					p.D348N												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G1042A	3						.						123.0	101.0	109.0					3																	147130364		2203	4300	6503	148613054	SO:0001583	missense	7545	exon2			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1042G>A	3.37:g.147130364G>A	ENSP00000282928:p.Asp348Asn	Somatic		Capture	Illumina HiSeq	Phase_I	148613054	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101396	0.94245	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	N	0.17248	0.465	0.80722	D	1	D	0.54047	0.964	P	0.55999	0.789	T	0.17592	-1.0364	10	0.87932	D	0	.	15.1592	0.72767	0.0:0.0:1.0:0.0	.	348	Q15915	ZIC1_HUMAN	N	348	ENSP00000282928:D348N	ENSP00000282928:D348N	D	+	1	0	ZIC1	148613054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.515000	0.98015	1.772000	0.52199	0.462000	0.41574	GAC		0.532	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
HPS3	84343	broad.mit.edu	37	3	148872896	148872896	+	Missense_Mutation	SNP	C	C	T	rs371551313		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:148872896C>T	ENST00000296051.2	+	8	1543	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	HPS3_ENST00000460120.1_Missense_Mutation_p.S303L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	468					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.S468L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCTTTTAGTTCGAGAAAAGAT	0.303									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.001				p.S468L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1403T	3						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	95.0	100.0	98.0		1403	4.0	1.0	3		98	0,8600		0,0,4300	no	missense	HPS3	NM_032383.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	468/1005	148872896	1,13005	2203	4300	6503	150355586	SO:0001583	missense	84343	exon8	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1403C>T	3.37:g.148872896C>T	ENSP00000296051:p.Ser468Leu	Somatic		Capture	Illumina HiSeq	Phase_I	150355586	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992880	0.54041	2.27E-4	0.0	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.71341	-0.56;-0.54	4.89	4.0	0.46444	.	0.188459	0.46442	D	0.000293	T	0.80654	0.4664	M	0.66939	2.045	0.58432	D	0.999998	D;P	0.89917	1.0;0.591	D;B	0.66497	0.944;0.049	T	0.82841	-0.0258	10	0.72032	D	0.01	-5.4211	13.2263	0.59916	0.1593:0.8406:0.0:0.0	.	303;468	G5E9V4;Q969F9	.;HPS3_HUMAN	L	468;303	ENSP00000296051:S468L;ENSP00000418230:S303L	ENSP00000296051:S468L	S	+	2	0	HPS3	150355586	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.057000	0.57455	1.388000	0.46506	0.655000	0.94253	TCG		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
NR2C2	7182	broad.mit.edu	37	3	15071894	15071894	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:15071894G>A	ENST00000425241.1	+	9	1407	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	NR2C2_ENST00000406272.2_Missense_Mutation_p.D349N|NR2C2_ENST00000323373.6_Missense_Mutation_p.D368N|NR2C2_ENST00000393102.3_Missense_Mutation_p.D349N|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	349					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D368N(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATCAGCAGAGACCAGTCGAC	0.517																																					p.D368N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102A	3						.						244.0	192.0	210.0					3																	15071894		2203	4300	6503	15046898	SO:0001583	missense	7182	exon10			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1045G>A	3.37:g.15071894G>A	ENSP00000388387:p.Asp349Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15046898	NM_003298	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.009808	0.75046	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.79	5.79	0.91817	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	L	0.56769	1.78	0.80722	D	1	B;P	0.50156	0.014;0.932	B;D	0.66196	0.02;0.942	T	0.56220	-0.8015	10	0.25751	T	0.34	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	349;368	P49116;F2YGU2	NR2C2_HUMAN;.	N	349;368;349;349	ENSP00000388387:D349N;ENSP00000320447:D368N;ENSP00000376814:D349N;ENSP00000384463:D349N	ENSP00000320447:D368N	D	+	1	0	NR2C2	15046898	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.863000	0.99569	2.746000	0.94184	0.655000	0.94253	GAC		0.517	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
CP	1356	broad.mit.edu	37	3	148928050	148928050	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:148928050C>T	ENST00000264613.6	-	3	773	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	171	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.D171N(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CAATTGCCATCTCCTTCCCCA	0.408																																					p.D171N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511A	3						.						216.0	187.0	197.0					3																	148928050		2203	4300	6503	150410740	SO:0001583	missense	1356	exon3			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.511G>A	3.37:g.148928050C>T	ENSP00000264613:p.Asp171Asn	Somatic		Capture	Illumina HiSeq	Phase_I	150410740	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442659	0.96187	.	.	ENSG00000047457	ENST00000264613	D	0.99462	-5.94	5.8	5.8	0.92144	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98294	1.0515	10	0.87932	D	0	-33.682	20.0465	0.97608	0.0:1.0:0.0:0.0	.	171;171	A8K5A4;P00450	.;CERU_HUMAN	N	171	ENSP00000264613:D171N	ENSP00000264613:D171N	D	-	1	0	CP	150410740	1.000000	0.71417	0.088000	0.20740	0.133000	0.20885	7.294000	0.78760	2.735000	0.93741	0.557000	0.71058	GAT		0.408	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
TM4SF4	7104	broad.mit.edu	37	3	149205420	149205420	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:149205420G>A	ENST00000305354.4	+	3	1183	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	93					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.T93T(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCACCTCCACGATATTTGCTG	0.448																																					p.T93T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G279A	3						.						169.0	162.0	165.0					3																	149205420		1945	4148	6093	150688110	SO:0001819	synonymous_variant	7104	exon3				CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.279G>A	3.37:g.149205420G>A		Somatic		Capture	Illumina HiSeq	Phase_I	150688110	NM_004617	B2RDA4	Silent	SNP	ENST00000305354.4	37	CCDS46932.1																																																																																				0.448	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1		
TSC22D2	9819	broad.mit.edu	37	3	150176176	150176176	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:150176176G>T	ENST00000361875.3	+	4	3112	c.2096G>T	c.(2095-2097)aGc>aTc	p.S699I	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S675I	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	699					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S699I(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGGTGAAAAGCCATTTGATG	0.348																																					p.S699I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2096T	3						.						57.0	61.0	60.0					3																	150176176		2203	4299	6502	151658866	SO:0001583	missense	9819	exon4			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.2096G>T	3.37:g.150176176G>T	ENSP00000354543:p.Ser699Ile	Somatic		Capture	Illumina HiSeq	Phase_I	151658866	NM_014779	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.164296|3.164296	0.57476|0.57476	.|.	.|.	ENSG00000196428|ENSG00000196428	ENST00000466814|ENST00000543241;ENST00000361875;ENST00000361136	.|T;T	.|0.41400	.|1.0;1.1	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.68522|0.68522	0.3010|0.3010	M|M	0.80847|0.80847	2.515|2.515	0.49915|0.49915	D|D	0.999831|0.999831	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.992;0.998	T|T	0.72978|0.72978	-0.4127|-0.4127	6|10	0.87932|0.87932	D|D	0|0	.|.	19.0939|19.0939	0.93242|0.93242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|675;699	.|O75157-2;O75157	.|.;T22D2_HUMAN	N|I	122|148;699;675	.|ENSP00000354543:S699I;ENSP00000354893:S675I	ENSP00000417747:K122N|ENSP00000354893:S675I	K|S	+|+	3|2	2|0	TSC22D2|TSC22D2	151658866|151658866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.420000|9.420000	0.97426|0.97426	2.591000|2.591000	0.87537|0.87537	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.348	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
EIF2A	83939	broad.mit.edu	37	3	150290155	150290155	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:150290155T>C	ENST00000460851.1	+	10	1331	c.1222T>C	c.(1222-1224)Tta>Cta	p.L408L	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Silent_p.L403L|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Silent_p.L194L|EIF2A_ENST00000406576.3_Silent_p.L347L|EIF2A_ENST00000487799.1_Silent_p.L383L			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	408					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.L383L(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAATGCAGAATTATGGCAGGT	0.398																																					p.L408L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1222C	3						.						68.0	63.0	65.0					3																	150290155		1851	4085	5936	151772845	SO:0001819	synonymous_variant	83939	exon10			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1222T>C	3.37:g.150290155T>C		Somatic		Capture	Illumina HiSeq	Phase_I	151772845	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	CCDS46935.1																																																																																				0.398	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
ERICH6	131831	broad.mit.edu	37	3	150387159	150387159	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:150387159G>A	ENST00000295910.6	-	12	1475	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P329S	NM_152394.3	NP_689607.2												p.P475S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGTTAGTGGGCATATCTTCT	0.453																																					p.P475S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1423T	3						.						185.0	169.0	174.0					3																	150387159		2203	4300	6503	151869849	SO:0001583	missense	131831	exon12																														ENST00000295910.6:c.1423C>T	3.37:g.150387159G>A	ENSP00000295910:p.Pro475Ser	Somatic		Capture	Illumina HiSeq	Phase_I	151869849	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	0.151	-1.091901	0.01858	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12569	2.67;2.67	5.5	-6.0	0.02206	.	1.147300	0.06320	N	0.704338	T	0.09905	0.0243	L	0.52759	1.655	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.38308	-0.9667	10	0.25751	T	0.34	-0.286	3.2627	0.06854	0.397:0.2816:0.2369:0.0845	.	475	Q7L0X2	F194A_HUMAN	S	475;329;433	ENSP00000295910:P475S;ENSP00000419366:P329S	ENSP00000295910:P475S	P	-	1	0	FAM194A	151869849	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.436000	0.06922	-1.020000	0.03354	-0.781000	0.03364	CCC		0.453	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
MED12L	116931	broad.mit.edu	37	3	150908596	150908596	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:150908596G>A	ENST00000474524.1	+	13	1884	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	MED12L_ENST00000273432.4_Missense_Mutation_p.A476T|MED12L_ENST00000422248.2_Missense_Mutation_p.A616T|MED12L_ENST00000309237.4_Missense_Mutation_p.A616T|RNA5SP145_ENST00000363124.1_RNA	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	616						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A616T(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCCATGACGCATACATGTG	0.488																																					p.A616T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1846A	3						.						132.0	110.0	117.0					3																	150908596		2203	4300	6503	152391286	SO:0001583	missense	116931	exon13			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1846G>A	3.37:g.150908596G>A	ENSP00000417235:p.Ala616Thr	Somatic		Capture	Illumina HiSeq	Phase_I	152391286	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830409	0.71258	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.48	4.61	0.57282	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.179881	0.49916	N	0.000125	T	0.54663	0.1872	M	0.71206	2.165	0.44247	D	0.997091	D;B;B;D	0.89917	0.997;0.015;0.086;1.0	P;B;B;D	0.79108	0.847;0.009;0.008;0.992	T	0.52837	-0.8522	10	0.31617	T	0.26	-10.8345	10.25	0.43364	0.1526:0.0:0.8474:0.0	.	476;616;616;616	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	T	616;616;616;476	ENSP00000403308:A616T;ENSP00000310760:A616T;ENSP00000417235:A616T;ENSP00000273432:A476T	ENSP00000273432:A476T	A	+	1	0	MED12L	152391286	0.991000	0.36638	0.220000	0.23810	0.803000	0.45373	4.036000	0.57304	1.452000	0.47756	0.591000	0.81541	GCA		0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MED12L	116931	broad.mit.edu	37	3	150911303	150911303	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:150911303C>A	ENST00000474524.1	+	14	2033	c.1995C>A	c.(1993-1995)tcC>tcA	p.S665S	MED12L_ENST00000273432.4_Silent_p.S525S|MED12L_ENST00000422248.2_Silent_p.S665S|MED12L_ENST00000309237.4_Silent_p.S700S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	665						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S665S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGAGAATCCTGTGAGAATG	0.383																																					p.S665S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1995A	3						.						74.0	73.0	73.0					3																	150911303		2203	4300	6503	152393993	SO:0001819	synonymous_variant	116931	exon14			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1995C>A	3.37:g.150911303C>A		Somatic		Capture	Illumina HiSeq	Phase_I	152393993	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168583	0.21621	.	.	ENSG00000144893	ENST00000480026	.	.	.	5.37	4.48	0.54585	.	.	.	.	.	T	0.61540	0.2355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58053	-0.7704	4	.	.	.	-6.5339	10.984	0.47513	0.0:0.856:0.0:0.144	.	.	.	.	M	15	.	.	L	+	1	2	MED12L	152393993	0.992000	0.36948	1.000000	0.80357	0.994000	0.84299	0.841000	0.27613	2.649000	0.89929	0.655000	0.94253	CTG		0.383	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
GPR171	29909	broad.mit.edu	37	3	150916296	150916296	+	Missense_Mutation	SNP	C	C	T	rs199881811		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:150916296C>T	ENST00000309180.5	-	3	1108	c.878G>A	c.(877-879)cGc>cAc	p.R293H	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	293					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R293H(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACCTTTGAGCGGAATGCTTT	0.418																																					p.R293H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	3						.						82.0	83.0	83.0					3																	150916296		2203	4300	6503	152398986	SO:0001583	missense	29909	exon3			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.878G>A	3.37:g.150916296C>T	ENSP00000308479:p.Arg293His	Somatic		Capture	Illumina HiSeq	Phase_I	152398986	NM_013308	D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019949	0.54576	.	.	ENSG00000174946	ENST00000309180	T	0.58358	0.34	5.61	5.61	0.85477	.	0.061370	0.64402	D	0.000015	T	0.53417	0.1795	N	0.08118	0	0.48975	D	0.999733	D	0.89917	1.0	P	0.60609	0.877	T	0.64398	-0.6417	10	0.87932	D	0	-9.1818	19.6436	0.95767	0.0:1.0:0.0:0.0	.	293	O14626	GP171_HUMAN	H	293	ENSP00000308479:R293H	ENSP00000308479:R293H	R	-	2	0	GPR171	152398986	0.977000	0.34250	0.989000	0.46669	0.287000	0.27160	2.449000	0.44935	2.621000	0.88768	0.650000	0.86243	CGC		0.418	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308	
GPR87	53836	broad.mit.edu	37	3	151012105	151012105	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:151012105T>G	ENST00000260843.4	-	3	1393	c.929A>C	c.(928-930)gAt>gCt	p.D310A	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	310					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.D310A(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTATTGGATCCAGGCAAAC	0.343																																					p.D310A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A929C	3						.						120.0	122.0	121.0					3																	151012105		2203	4300	6503	152494795	SO:0001583	missense	53836	exon3			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.929A>C	3.37:g.151012105T>G	ENSP00000260843:p.Asp310Ala	Somatic		Capture	Illumina HiSeq	Phase_I	152494795	NM_023915	Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137484	0.77775	.	.	ENSG00000138271	ENST00000260843	T	0.74002	-0.8	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88559	0.6469	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90944	0.4800	10	0.87932	D	0	-9.9636	15.4777	0.75497	0.0:0.0:0.0:1.0	.	310	Q9BY21	GPR87_HUMAN	A	310	ENSP00000260843:D310A	ENSP00000260843:D310A	D	-	2	0	GPR87	152494795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.195000	0.70347	0.533000	0.62120	GAT		0.343	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		
P2RY13	53829	broad.mit.edu	37	3	151046320	151046320	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:151046320G>A	ENST00000325602.5	-	2	543	c.524C>T	c.(523-525)tCc>tTc	p.S175F	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	175					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.S154F(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATTTGGCAGGGAGATGAAGAA	0.403																																					p.S175F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524T	3						.						44.0	48.0	46.0					3																	151046320		2203	4300	6503	152529010	SO:0001583	missense	53829	exon2			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.524C>T	3.37:g.151046320G>A	ENSP00000320376:p.Ser175Phe	Somatic		Capture	Illumina HiSeq	Phase_I	152529010	NM_176894	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610174	0.46527	.	.	ENSG00000181631	ENST00000325602	T	0.44881	0.91	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.054790	0.64402	D	0.000001	T	0.59865	0.2225	L	0.51853	1.615	0.47584	D	0.999466	D	0.76494	0.999	D	0.83275	0.996	T	0.51601	-0.8685	10	0.25751	T	0.34	-25.8998	19.3376	0.94324	0.0:0.0:1.0:0.0	.	175	Q9BPV8	P2Y13_HUMAN	F	175	ENSP00000320376:S175F	ENSP00000320376:S175F	S	-	2	0	P2RY13	152529010	1.000000	0.71417	0.937000	0.37676	0.124000	0.20399	5.253000	0.65452	2.567000	0.86603	0.558000	0.71614	TCC		0.403	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914	
P2RY12	64805	broad.mit.edu	37	3	151056131	151056131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:151056131C>T	ENST00000302632.3	-	3	802	c.503G>A	c.(502-504)aGa>aAa	p.R168K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	168					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R168K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	ATTCTTGTCTCTCGGCTGCCT	0.403																																					p.R168K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G503A	3						.						101.0	99.0	100.0					3																	151056131		2203	4300	6503	152538821	SO:0001583	missense	64805	exon3			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.503G>A	3.37:g.151056131C>T	ENSP00000307259:p.Arg168Lys	Somatic		Capture	Illumina HiSeq	Phase_I	152538821	NM_022788	D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	4.372	0.068655	0.08436	.	.	ENSG00000169313	ENST00000302632	T	0.36878	1.23	5.42	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	1.564180	0.03515	N	0.220175	T	0.13586	0.0329	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	10	0.06365	T	0.9	-3.098	5.5017	0.16833	0.1361:0.164:0.5445:0.1553	.	168	Q9H244	P2Y12_HUMAN	K	168	ENSP00000307259:R168K	ENSP00000307259:R168K	R	-	2	0	P2RY12	152538821	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-0.412000	0.07132	-0.180000	0.10637	0.655000	0.94253	AGA		0.403	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1		
MED12L	116931	broad.mit.edu	37	3	151095922	151095922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:151095922C>A	ENST00000474524.1	+	29	4372	c.4334C>A	c.(4333-4335)tCt>tAt	p.S1445Y	MED12L_ENST00000273432.4_Missense_Mutation_p.S1305Y|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1445						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S1445Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACTTGGGTTCTTCTTCCAAA	0.502																																					p.S1445Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4334A	3						.						63.0	58.0	59.0					3																	151095922		2203	4300	6503	152578612	SO:0001583	missense	116931	exon29			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4334C>A	3.37:g.151095922C>A	ENSP00000417235:p.Ser1445Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	152578612	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821271	0.90873	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62788	0.22;0.0	5.73	5.73	0.89815	.	0.061993	0.64402	D	0.000002	T	0.77651	0.4162	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.995	D;P;P	0.66716	0.946;0.827;0.854	T	0.78674	-0.2112	10	0.87932	D	0	-16.5919	19.5083	0.95130	0.0:1.0:0.0:0.0	.	1305;1444;1445	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Y	1445;1305	ENSP00000417235:S1445Y;ENSP00000273432:S1305Y	ENSP00000273432:S1305Y	S	+	2	0	MED12L	152578612	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	7.151000	0.77411	2.721000	0.93114	0.655000	0.94253	TCT		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MED12L	116931	broad.mit.edu	37	3	151131060	151131060	+	Nonsense_Mutation	SNP	C	C	T	rs371833156		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:151131060C>T	ENST00000474524.1	+	40	6207	c.6169C>T	c.(6169-6171)Cga>Tga	p.R2057*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2057	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R2057*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCAAGTTCGACAGCAGCA	0.547																																					p.R2057X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6169T	3						.						69.0	66.0	67.0					3																	151131060		2203	4300	6503	152613750	SO:0001587	stop_gained	116931	exon40			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6169C>T	3.37:g.151131060C>T	ENSP00000417235:p.Arg2057*	Somatic		Capture	Illumina HiSeq	Phase_I	152613750	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	47	13.085774	0.99718	.	.	ENSG00000144893	ENST00000474524	.	.	.	5.33	3.3	0.37823	.	0.420137	0.23510	N	0.047404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9158	14.0535	0.64751	0.2841:0.7159:0.0:0.0	.	.	.	.	X	2057	.	ENSP00000417235:R2057X	R	+	1	2	MED12L	152613750	0.976000	0.34144	0.977000	0.42913	0.994000	0.84299	1.961000	0.40432	1.217000	0.43442	0.655000	0.94253	CGA		0.547	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
IGSF10	285313	broad.mit.edu	37	3	151164857	151164857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:151164857G>A	ENST00000282466.3	-	4	2911	c.2912C>T	c.(2911-2913)tCt>tTt	p.S971F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	971					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S971F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTAGTGTGAGAATAGAAGTG	0.413																																					p.S971F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2912T	3						.						152.0	146.0	148.0					3																	151164857		2203	4300	6503	152647547	SO:0001583	missense	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2912C>T	3.37:g.151164857G>A	ENSP00000282466:p.Ser971Phe	Somatic		Capture	Illumina HiSeq	Phase_I	152647547	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	4.072	0.011181	0.07912	.	.	ENSG00000152580	ENST00000282466	T	0.66460	-0.21	5.13	2.33	0.28932	.	0.986535	0.08247	N	0.975229	T	0.42988	0.1227	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.26780	-1.0093	10	0.23891	T	0.37	.	6.0544	0.19802	0.4966:0.0:0.5034:0.0	.	971	Q6WRI0	IGS10_HUMAN	F	971	ENSP00000282466:S971F	ENSP00000282466:S971F	S	-	2	0	IGSF10	152647547	0.155000	0.22806	0.001000	0.08648	0.003000	0.03518	1.621000	0.36986	0.551000	0.29008	-0.218000	0.12543	TCT		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
ARHGEF26	26084	broad.mit.edu	37	3	153958183	153958183	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:153958183T>G	ENST00000356448.4	+	12	2399	c.2115T>G	c.(2113-2115)gaT>gaG	p.D705E	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.D705E|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	705	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D705E(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACGTCAATGATTATTCCTTAA	0.383																																					p.D705E	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2115G	3						.						83.0	79.0	80.0					3																	153958183		1877	4116	5993	155440873	SO:0001583	missense	26084	exon12			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2115T>G	3.37:g.153958183T>G	ENSP00000348828:p.Asp705Glu	Somatic		Capture	Illumina HiSeq	Phase_I	155440873	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620915	0.66787	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.75477	-0.94;-0.94	5.5	1.94	0.25998	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83449	0.0047	10	0.49607	T	0.09	-26.5739	7.9857	0.30210	0.0:0.3536:0.0:0.6464	.	705;705	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	E	705	ENSP00000348828:D705E;ENSP00000423418:D705E	ENSP00000348828:D705E	D	+	3	2	ARHGEF26	155440873	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.660000	0.25009	0.924000	0.37069	0.533000	0.62120	GAT		0.383	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
MME	4311	broad.mit.edu	37	3	154834699	154834699	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:154834699C>A	ENST00000460393.1	+	7	698	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MME_ENST00000492661.1_Missense_Mutation_p.S193Y|MME_ENST00000493237.1_Missense_Mutation_p.S193Y|MME_ENST00000360490.2_Missense_Mutation_p.S193Y|MME_ENST00000462745.1_Missense_Mutation_p.S193Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	193					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.S193Y(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CAACTGAATTCTAAATATGGG	0.289																																					p.S193Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578A	3						.						61.0	64.0	63.0					3																	154834699		2203	4296	6499	156317393	SO:0001583	missense	4311	exon7				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.578C>A	3.37:g.154834699C>A	ENSP00000418525:p.Ser193Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	156317393	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	3.377	-0.127207	0.06795	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	6.17	5.3	0.74995	Peptidase M13 (1);	0.354852	0.33712	N	0.004623	T	0.66896	0.2836	L	0.39245	1.2	0.38254	D	0.941695	B	0.16802	0.019	B	0.28991	0.097	T	0.63084	-0.6716	10	0.16896	T	0.51	-14.0003	13.259	0.60095	0.1269:0.7512:0.1219:0.0	.	193	P08473	NEP_HUMAN	Y	193	ENSP00000420389:S193Y;ENSP00000418525:S193Y;ENSP00000420101:S193Y;ENSP00000419653:S193Y;ENSP00000417079:S193Y;ENSP00000353679:S193Y	ENSP00000353679:S193Y	S	+	2	0	MME	156317393	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.054000	0.41335	1.616000	0.50265	0.655000	0.94253	TCT		0.289	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
C3orf33	285315	broad.mit.edu	37	3	155481320	155481320	+	Missense_Mutation	SNP	G	G	A	rs200965203		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:155481320G>A	ENST00000340171.2	-	5	969	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	C3orf33_ENST00000534941.1_Missense_Mutation_p.R248C			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	291					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.R242C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTTTCTACGAAAGTTTATG	0.323																																					p.R248C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C742T	3						.	G	CYS/ARG	0,3646		0,0,1823	59.0	54.0	56.0		742	2.4	0.9	3		56	1,8169		0,1,4084	yes	missense	C3orf33	NM_173657.1	180	0,1,5907	AA,AG,GG		0.0122,0.0,0.0085	probably-damaging	248/252	155481320	1,11815	1823	4085	5908	156964014	SO:0001583	missense	285315	exon6			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.871C>T	3.37:g.155481320G>A	ENSP00000342512:p.Arg291Cys	Somatic		Capture	Illumina HiSeq	Phase_I	156964014	NM_173657	A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37		.	.	.	.	.	.	.	.	.	.	G	17.26	3.345270	0.61073	0.0	1.22E-4	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.33438	1.43;1.41	5.35	2.44	0.29823	.	0.465635	0.19761	N	0.106667	T	0.26268	0.0641	L	0.60455	1.87	0.31498	N	0.665138	B	0.17465	0.022	B	0.14578	0.011	T	0.20438	-1.0275	10	0.56958	D	0.05	-6.077	5.2544	0.15539	0.1998:0.2129:0.5873:0.0	.	291	Q6P1S2	CC033_HUMAN	C	248;291;291	ENSP00000445446:R248C;ENSP00000342512:R291C	ENSP00000342512:R291C	R	-	1	0	C3orf33	156964014	0.207000	0.23482	0.949000	0.38748	0.806000	0.45545	0.147000	0.16202	0.598000	0.29829	0.650000	0.86243	CGT		0.323	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657	
GMPS	8833	broad.mit.edu	37	3	155628973	155628973	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:155628973A>G	ENST00000496455.2	+	7	1126	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	GMPS_ENST00000295920.7_Missense_Mutation_p.Q165R	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	264	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.Q264R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AACCAAGAACAAGTCATTGCT	0.398			T	MLL	AML																																p.Q264R	Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A791G	3						.						126.0	114.0	118.0					3																	155628973		1875	4126	6001	157111667	SO:0001583	missense	8833	exon7			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.791A>G	3.37:g.155628973A>G	ENSP00000419851:p.Gln264Arg	Somatic		Capture	Illumina HiSeq	Phase_I	157111667	NM_003875	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809072	0.31961	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	T;T	0.41400	1.0;1.0	5.75	4.6	0.57074	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.46567	1.45	0.80722	D	1	B;B	0.14438	0.008;0.01	B;B	0.21546	0.031;0.035	T	0.09773	-1.0659	10	0.20519	T	0.43	-8.0368	11.6451	0.51257	0.9307:0.0:0.0693:0.0	.	165;264	F8W720;P49915	.;GUAA_HUMAN	R	264;165;213;264	ENSP00000419851:Q264R;ENSP00000295920:Q165R	ENSP00000295920:Q165R	Q	+	2	0	GMPS	157111667	1.000000	0.71417	0.958000	0.39756	0.985000	0.73830	8.725000	0.91468	1.005000	0.39183	0.459000	0.35465	CAA		0.398	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
GALNT15	117248	broad.mit.edu	37	3	16237326	16237326	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:16237326A>G	ENST00000339732.5	+	2	1102	c.599A>G	c.(598-600)cAt>cGt	p.H200R	GALNT15_ENST00000437509.1_Missense_Mutation_p.H200R	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	200	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.H200R(1)									CTCTGTTTCCATGATGAGGCC	0.607																																					p.H200R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A599G	3						.						103.0	76.0	85.0					3																	16237326		2203	4300	6503	16212330	SO:0001583	missense	117248	exon2			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.599A>G	3.37:g.16237326A>G	ENSP00000344260:p.His200Arg	Somatic		Capture	Illumina HiSeq	Phase_I	16212330	NM_054110	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.439109	0.83885	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.61392	0.11;0.11	4.88	4.88	0.63580	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.66439	2.03	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.77208	-0.2672	10	0.87932	D	0	.	14.5169	0.67826	1.0:0.0:0.0:0.0	.	200	Q8N3T1	GLTL2_HUMAN	R	200	ENSP00000344260:H200R;ENSP00000395873:H200R	ENSP00000344260:H200R	H	+	2	0	GALNTL2	16212330	1.000000	0.71417	0.894000	0.35097	0.941000	0.58515	6.275000	0.72594	1.831000	0.53308	0.454000	0.30748	CAT		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110	
TIPARP	25976	broad.mit.edu	37	3	156395883	156395883	+	Nonsense_Mutation	SNP	C	C	T	rs569197742		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:156395883C>T	ENST00000461166.1	+	2	985	c.397C>T	c.(397-399)Cga>Tga	p.R133*	TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R133*|TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R133*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	133					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R133*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCTCCAGAACGAGTGGTTCC	0.498																																					p.R133X	Ovarian(171;276 1987 3319 6837 11197)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C397T	3						.						101.0	102.0	102.0					3																	156395883		2203	4300	6503	157878577	SO:0001587	stop_gained	25976	exon2			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.397C>T	3.37:g.156395883C>T	ENSP00000420612:p.Arg133*	Somatic		Capture	Illumina HiSeq	Phase_I	157878577	NM_015508	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Nonsense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	41	8.889236	0.98992	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.	.	.	5.11	4.22	0.49857	.	0.501234	0.20537	N	0.090395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	14.5068	0.67758	0.1481:0.8519:0.0:0.0	.	.	.	.	X	133	.	ENSP00000295924:R133X	R	+	1	2	TIPARP	157878577	1.000000	0.71417	0.951000	0.38953	0.819000	0.46315	4.550000	0.60733	1.136000	0.42199	0.563000	0.77884	CGA		0.498	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
B3GALNT1	8706	broad.mit.edu	37	3	160804109	160804109	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:160804109C>T	ENST00000392781.2	-	8	1181	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R145Q	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	145					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R145Q(2)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAAATCTTGTCGGATTATGTC	0.383																																					p.R145Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G434A	3						.						88.0	85.0	86.0					3																	160804109		2203	4300	6503	162286803	SO:0001583	missense	8706	exon4			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.434G>A	3.37:g.160804109C>T	ENSP00000376532:p.Arg145Gln	Somatic		Capture	Illumina HiSeq	Phase_I	162286803	NM_033168	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	2.192	-0.385129	0.04966	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.75	5.75	0.90469	.	0.102222	0.43579	D	0.000551	T	0.13628	0.0330	N	0.01019	-1.045	0.28629	N	0.907741	B	0.21753	0.06	B	0.12837	0.008	T	0.11916	-1.0568	10	0.02654	T	1	.	12.2651	0.54674	0.0:0.9228:0.0:0.0772	.	145	O75752	B3GL1_HUMAN	Q	145	ENSP00000323479:R145Q;ENSP00000376530:R145Q;ENSP00000376531:R145Q;ENSP00000376532:R145Q;ENSP00000418226:R145Q;ENSP00000420163:R145Q	ENSP00000323479:R145Q	R	-	2	0	B3GALNT1	162286803	0.000000	0.05858	0.992000	0.48379	0.795000	0.44927	0.888000	0.28268	2.713000	0.92767	0.462000	0.41574	CGA		0.383	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
NMD3	51068	broad.mit.edu	37	3	160945047	160945047	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:160945047A>G	ENST00000460469.1	+	3	647	c.192A>G	c.(190-192)ccA>ccG	p.P64P	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Silent_p.P64P|NMD3_ENST00000351193.2_Silent_p.P64P			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	64					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.P64P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ATTTTCAACCACCAGGAACTT	0.363																																					p.P64P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A192G	3						.						147.0	141.0	143.0					3																	160945047		2203	4300	6503	162427741	SO:0001819	synonymous_variant	51068	exon4			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.192A>G	3.37:g.160945047A>G		Somatic		Capture	Illumina HiSeq	Phase_I	162427741	NM_015938	D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	CCDS3194.1																																																																																				0.363	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
SI	6476	broad.mit.edu	37	3	164724721	164724721	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:164724721C>T	ENST00000264382.3	-	37	4351	c.4289G>A	c.(4288-4290)gGa>gAa	p.G1430E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1430	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G1430E(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAAATGTAATCCATCAGTTCT	0.333										HNSCC(35;0.089)																											p.G1430E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4289A	3						.						83.0	75.0	78.0					3																	164724721		2203	4300	6503	166207415	SO:0001583	missense	6476	exon37			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4289G>A	3.37:g.164724721C>T	ENSP00000264382:p.Gly1430Glu	Somatic		Capture	Illumina HiSeq	Phase_I	166207415	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705085	0.48412	.	.	ENSG00000090402	ENST00000264382	D	0.91011	-2.77	4.26	4.26	0.50523	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93028	0.7781	L	0.44542	1.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	D	0.93626	0.6952	10	0.62326	D	0.03	.	15.9745	0.80049	0.0:1.0:0.0:0.0	.	1430	P14410	SUIS_HUMAN	E	1430	ENSP00000264382:G1430E	ENSP00000264382:G1430E	G	-	2	0	SI	166207415	1.000000	0.71417	0.686000	0.30086	0.184000	0.23303	6.246000	0.72405	2.351000	0.79841	0.484000	0.47621	GGA		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SI	6476	broad.mit.edu	37	3	164783065	164783065	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:164783065T>C	ENST00000264382.3	-	7	853	c.791A>G	c.(790-792)gAc>gGc	p.D264G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	264	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D264G(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGGAAGTTGGTCTCGAGTAAA	0.313										HNSCC(35;0.089)																											p.D264G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A791G	3						.						66.0	65.0	65.0					3																	164783065		2203	4300	6503	166265759	SO:0001583	missense	6476	exon7			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.791A>G	3.37:g.164783065T>C	ENSP00000264382:p.Asp264Gly	Somatic		Capture	Illumina HiSeq	Phase_I	166265759	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217165	0.79352	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	5.9	5.9	0.94986	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.96349	0.8809	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97136	0.9821	10	0.87932	D	0	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	264	P14410	SUIS_HUMAN	G	264	ENSP00000264382:D264G	ENSP00000264382:D264G	D	-	2	0	SI	166265759	1.000000	0.71417	0.991000	0.47740	0.839000	0.47603	7.500000	0.81588	2.251000	0.74343	0.528000	0.53228	GAC		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
PLCL2	23228	broad.mit.edu	37	3	17052670	17052670	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:17052670G>A	ENST00000418129.2	+	2	1919	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	PLCL2_ENST00000396755.2_Missense_Mutation_p.R485Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R485Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	611	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R485Q(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTGTGAAGCGATTTCAGCTT	0.438																																					p.D605N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1813A	3						.						82.0	83.0	82.0					3																	17052670		2203	4300	6503	17027674	SO:0001583	missense	23228	exon3			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1454G>A	3.37:g.17052670G>A	ENSP00000409637:p.Arg485Gln	Somatic		Capture	Illumina HiSeq	Phase_I	17027674	NM_001144382	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.015|5.015	0.188439|0.188439	0.09547|0.09547	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.52295	.|0.67;0.67;0.67	5.63|5.63	4.76|4.76	0.60689|0.60689	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	.|0.061936	.|0.64402	.|D	.|0.000006	T|T	0.33962|0.33962	0.0881|0.0881	.|.	.|.	.|.	0.53005|0.53005	D|D	0.99996|0.99996	.|B	.|0.28880	.|0.226	.|B	.|0.17098	.|0.017	T|T	0.08700|0.08700	-1.0709|-1.0709	4|9	.|0.23302	.|T	.|0.38	.|.	14.4032|14.4032	0.67063|0.67063	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|611	.|Q9UPR0	.|PLCL2_HUMAN	N|Q	229|485;612;485;485	.|ENSP00000409637:R485Q;ENSP00000379979:R485Q;ENSP00000412836:R485Q	.|ENSP00000285094:R612Q	D|R	+|+	1|2	0|0	PLCL2|PLCL2	17027674|17027674	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.156000|0.156000	0.22039|0.22039	6.588000|6.588000	0.74076|0.74076	1.392000|1.392000	0.46585|0.46585	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.438	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
BCHE	590	broad.mit.edu	37	3	165548745	165548745	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:165548745G>T	ENST00000264381.3	-	2	243	c.77C>A	c.(76-78)tCa>tAa	p.S26*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	26					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.S26*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCAGTATGTGACTTCCCAAT	0.378																																					p.S26X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C77A	3						.						66.0	61.0	63.0					3																	165548745		2203	4300	6503	167031439	SO:0001587	stop_gained	590	exon2			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.77C>A	3.37:g.165548745G>T	ENSP00000264381:p.Ser26*	Somatic		Capture	Illumina HiSeq	Phase_I	167031439	NM_000055	A8K7P8	Nonsense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247462	0.39697	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.81	4.92	0.64577	.	0.881542	0.10007	N	0.727647	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9457	0.29985	0.084:0.3119:0.6041:0.0	.	.	.	.	X	26	.	ENSP00000264381:S26X	S	-	2	0	BCHE	167031439	0.937000	0.31787	0.043000	0.18650	0.009000	0.06853	2.022000	0.41030	1.428000	0.47296	0.655000	0.94253	TCA		0.378	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
MECOM	2122	broad.mit.edu	37	3	168812978	168812978	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:168812978G>A	ENST00000464456.1	-	11	3514	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	MECOM_ENST00000468789.1_Missense_Mutation_p.R781C|MECOM_ENST00000392736.3_Missense_Mutation_p.R781C|MECOM_ENST00000494292.1_Missense_Mutation_p.R960C|MECOM_ENST00000472280.1_Missense_Mutation_p.R782C|MECOM_ENST00000460814.1_Missense_Mutation_p.R772C|MECOM_ENST00000264674.3_Missense_Mutation_p.R846C|MECOM_ENST00000433243.2_Missense_Mutation_p.R782C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R781C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGATGTTGCGAACATGCCTT	0.338																																					p.R846C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2536T	3						.						136.0	118.0	125.0					3																	168812978		2203	4300	6503	170295672	SO:0001583	missense	2122	exon13			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2314C>T	3.37:g.168812978G>A	ENSP00000419770:p.Arg772Cys	Somatic		Capture	Illumina HiSeq	Phase_I	170295672	NM_001105077	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169400	0.38315	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.64	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.999	D;P;D;D;D	0.76575	0.979;0.797;0.988;0.96;0.971	T	0.65121	-0.6245	10	0.87932	D	0	-0.3271	15.7903	0.78350	0.0:0.0:0.8628:0.1372	.	969;773;960;846;781	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	C	846;781;772;782;960;781;772;782	ENSP00000264674:R846C;ENSP00000376493:R781C;ENSP00000419770:R772C;ENSP00000420048:R782C;ENSP00000417899:R960C;ENSP00000419995:R781C;ENSP00000420466:R772C;ENSP00000394302:R782C	ENSP00000264674:R846C	R	-	1	0	MECOM	170295672	1.000000	0.71417	0.983000	0.44433	0.393000	0.30537	7.814000	0.86154	1.361000	0.45981	0.561000	0.74099	CGC		0.338	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
PRKCI	5584	broad.mit.edu	37	3	169981188	169981188	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:169981188G>A	ENST00000295797.4	+	4	640	c.335G>A	c.(334-336)cGt>cAt	p.R112H		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	112	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R103H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GTACCAGAACGTCCTGGGATG	0.328																																					p.R112H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G335A	3						.						179.0	165.0	170.0					3																	169981188		2203	4300	6503	171463882	SO:0001583	missense	5584	exon4				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.335G>A	3.37:g.169981188G>A	ENSP00000295797:p.Arg112His	Somatic		Capture	Illumina HiSeq	Phase_I	171463882	NM_002740	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477072	0.44044	.	.	ENSG00000163558	ENST00000295797	T	0.68765	-0.35	5.45	5.45	0.79879	.	0.153248	0.53938	D	0.000041	T	0.50377	0.1612	N	0.19112	0.55	0.48696	D	0.999694	P	0.44816	0.844	B	0.34873	0.191	T	0.51490	-0.8699	9	.	.	.	.	19.2586	0.93957	0.0:0.0:1.0:0.0	.	112	P41743	KPCI_HUMAN	H	112	ENSP00000295797:R112H	.	R	+	2	0	PRKCI	171463882	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.387000	0.73191	2.737000	0.93849	0.585000	0.79938	CGT		0.328	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
SLC7A14	57709	broad.mit.edu	37	3	170216525	170216525	+	Silent	SNP	G	G	A	rs543046436		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:170216525G>A	ENST00000231706.5	-	4	1005	c.690C>T	c.(688-690)atC>atT	p.I230I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	230					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.I230I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGAGGCCTGCGATCATGATGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.001				p.I230I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C690T	3						.						116.0	102.0	107.0					3																	170216525		2203	4300	6503	171699219	SO:0001819	synonymous_variant	57709	exon4			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.690C>T	3.37:g.170216525G>A		Somatic		Capture	Illumina HiSeq	Phase_I	171699219	NM_020949	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
EIF5A2	56648	broad.mit.edu	37	3	170612119	170612119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:170612119C>A	ENST00000295822.2	-	4	549	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	EIF5A2_ENST00000474096.1_3'UTR|EIF5A2_ENST00000460117.1_5'UTR|EIF5A2_ENST00000487522.1_Intron	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	122					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.E122*(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CCCTCTATTTCTTTGCCTAGT	0.373																																					p.E122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G364T	3						.						191.0	192.0	191.0					3																	170612119		2203	4300	6503	172094813	SO:0001587	stop_gained	56648	exon4			AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.364G>T	3.37:g.170612119C>A	ENSP00000295822:p.Glu122*	Somatic		Capture	Illumina HiSeq	Phase_I	172094813	NM_020390	B2R4V5	Nonsense_Mutation	SNP	ENST00000295822.2	37	CCDS3214.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664485	0.96745	.	.	ENSG00000163577	ENST00000295822;ENST00000474417	.	.	.	6.16	6.16	0.99307	.	0.070742	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.002	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	122;103	.	ENSP00000295822:E122X	E	-	1	0	EIF5A2	172094813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.366000	0.66122	2.937000	0.99478	0.650000	0.86243	GAA		0.373	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1		
PLD1	5337	broad.mit.edu	37	3	171379953	171379953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:171379953C>T	ENST00000351298.4	-	20	2363	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	PLD1_ENST00000356327.5_Missense_Mutation_p.R708H|PLD1_ENST00000340989.4_Missense_Mutation_p.R746H|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	746	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.R746H(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCAGCAGAGCGGAGCAACTA	0.428																																					p.R708H	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2123A	3						.						79.0	79.0	79.0					3																	171379953		2203	4300	6503	172862647	SO:0001583	missense	5337	exon19			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2237G>A	3.37:g.171379953C>T	ENSP00000342793:p.Arg746His	Somatic		Capture	Illumina HiSeq	Phase_I	172862647	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033831|4.033831	0.75504|0.75504	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.24151	.|1.87;1.87;1.87	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65186|0.65186	0.2667|0.2667	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.79108	.|0.992;0.986;0.981;0.957	T|T	0.76629|0.76629	-0.2889|-0.2889	5|10	.|0.87932	.|D	.|0	-16.6342|-16.6342	18.193|18.193	0.89813|0.89813	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|708;746;731;746	.|Q13393-2;Q13393-4;Q59EA4;Q13393	.|.;.;.;PLD1_HUMAN	T|H	9|708;746;746	.|ENSP00000348681:R708H;ENSP00000342793:R746H;ENSP00000340326:R746H	.|ENSP00000340326:R746H	A|R	-|-	1|2	0|0	PLD1|PLD1	172862647|172862647	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.280000|0.280000	0.26924|0.26924	5.451000|5.451000	0.66632|0.66632	2.573000|2.573000	0.86826|0.86826	0.467000|0.467000	0.42956|0.42956	GCT|CGC		0.428	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
PLD1	5337	broad.mit.edu	37	3	171395396	171395396	+	Silent	SNP	G	G	A	rs200255431		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:171395396G>A	ENST00000351298.4	-	17	2082	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000340989.4_Silent_p.F652F|PLD1_ENST00000342215.6_Missense_Mutation_p.S543L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	652	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.F652F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGAAGACGAAATTGCAGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18957	0.001		0.0	False		,,,				2504	0.0				p.F614F	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1842T	3						.						196.0	171.0	180.0					3																	171395396		2203	4300	6503	172878090	SO:0001819	synonymous_variant	5337	exon16			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1956C>T	3.37:g.171395396G>A		Somatic		Capture	Illumina HiSeq	Phase_I	172878090	NM_001130081		Silent	SNP	ENST00000351298.4	37	CCDS3216.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.97	2.989790	0.54041	.	.	ENSG00000075651	ENST00000342215	T	0.34275	1.37	6.16	-5.85	0.02311	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.25021	N	0.991339	.	.	.	.	.	.	T	0.32640	-0.9899	6	0.08599	T	0.76	-24.0753	16.5412	0.84385	0.4743:0.0:0.5257:0.0	.	.	.	.	L	543	ENSP00000339936:S543L	ENSP00000339936:S543L	S	-	2	0	PLD1	172878090	0.998000	0.40836	0.785000	0.31869	0.985000	0.73830	0.818000	0.27295	-1.353000	0.02191	-0.806000	0.03193	TCG		0.448	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
PLD1	5337	broad.mit.edu	37	3	171431715	171431715	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:171431715C>T	ENST00000351298.4	-	9	1005	c.879G>A	c.(877-879)acG>acA	p.T293T	PLD1_ENST00000356327.5_Silent_p.T293T|PLD1_ENST00000340989.4_Silent_p.T293T|PLD1_ENST00000342215.6_Silent_p.T293T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	293	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.T293T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCATATTTCGTTTCTGTCT	0.338																																					p.T293T	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G879A	3						.						150.0	154.0	152.0					3																	171431715		2203	4300	6503	172914409	SO:0001819	synonymous_variant	5337	exon9			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.879G>A	3.37:g.171431715C>T		Somatic		Capture	Illumina HiSeq	Phase_I	172914409	NM_001130081		Silent	SNP	ENST00000351298.4	37	CCDS3216.1																																																																																				0.338	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
TBL1XR1	79718	broad.mit.edu	37	3	176752059	176752059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:176752059C>A	ENST00000430069.1	-	13	1436	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.E393*			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	393					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E393*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTATAAATTTCTTTATTATGT	0.308																																					p.E393X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1177T	3						.						99.0	98.0	98.0					3																	176752059		1816	4084	5900	178234753	SO:0001587	stop_gained	79718	exon13			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1177G>T	3.37:g.176752059C>A	ENSP00000405574:p.Glu393*	Somatic		Capture	Illumina HiSeq	Phase_I	178234753	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Nonsense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	42	9.318227	0.99135	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-10.7427	18.7223	0.91700	0.0:1.0:0.0:0.0	.	.	.	.	X	393;393;255	.	ENSP00000405574:E393X	E	-	1	0	TBL1XR1	178234753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.672000	0.90937	0.650000	0.86243	GAA		0.308	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.R88Q	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,central_nervous_system,brain,Substitution - Missense,0 	.	53	Substitution - Missense(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	c.G263A	3						.						107.0	102.0	104.0					3																	178916876		1821	4078	5899	180399570	SO:0001583	missense	5290	exon2				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	Somatic		Capture	Illumina HiSeq	Phase_I	180399570	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	broad.mit.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	T	rs121913283		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:178952074G>T	ENST00000263967.3	+	21	3286	c.3129G>T	c.(3127-3129)atG>atT	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.M1043I	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,ovary,NS,Substitution - Missense,0 	.	66	Substitution - Missense(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)	c.G3129T	3						.						98.0	88.0	91.0					3																	178952074		1907	4120	6027	180434768	SO:0001583	missense	5290	exon21				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>T	3.37:g.178952074G>T	ENSP00000263967:p.Met1043Ile	Somatic		Capture	Illumina HiSeq	Phase_I	180434768	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919429	0.52653	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
TTC14	151613	broad.mit.edu	37	3	180325449	180325449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:180325449G>T	ENST00000296015.4	+	10	1318	c.1186G>T	c.(1186-1188)Gaa>Taa	p.E396*	TTC14_ENST00000412756.2_Nonsense_Mutation_p.E396*|TTC14_ENST00000382584.4_Nonsense_Mutation_p.E396*	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	396	Poly-Glu.						RNA binding (GO:0003723)	p.E396*(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAAGAAGAAGAAAAGTTTTT	0.299																																					p.E396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1186T	3						.						40.0	45.0	44.0					3																	180325449		2193	4287	6480	181808143	SO:0001587	stop_gained	151613	exon10			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1186G>T	3.37:g.180325449G>T	ENSP00000296015:p.Glu396*	Somatic		Capture	Illumina HiSeq	Phase_I	181808143	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	38	7.105714	0.98066	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	.	.	.	5.39	5.39	0.77823	.	0.156997	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-15.2661	19.1554	0.93507	0.0:0.0:1.0:0.0	.	.	.	.	X	396	.	ENSP00000296015:E396X	E	+	1	0	TTC14	181808143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.222000	0.95196	2.528000	0.85240	0.655000	0.94253	GAA		0.299	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
CCDC39	339829	broad.mit.edu	37	3	180332797	180332797	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:180332797G>A	ENST00000442201.2	-	20	2857	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	913	Ser-rich.				axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.A913V(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAAGAGGAGGCCGGGAATTT	0.378																																					p.A913V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2738T	3						.						46.0	42.0	43.0					3																	180332797		1820	4059	5879	181815491	SO:0001583	missense	339829	exon20			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2738C>T	3.37:g.180332797G>A	ENSP00000405708:p.Ala913Val	Somatic		Capture	Illumina HiSeq	Phase_I	181815491	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.83|10.83	1.461557|1.461557	0.26248|0.26248	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000442201|ENST00000473854	.|.	.|.	.|.	4.61|4.61	-3.69|-3.69	0.04450|0.04450	.|.	.|.	.|.	.|.	.|.	T|T	0.31702|0.31702	0.0805|0.0805	L|L	0.38531|0.38531	1.155|1.155	0.09310|0.09310	N|N	1|1	B|.	0.22983|.	0.078|.	B|.	0.24701|.	0.055|.	T|T	0.35871|0.35871	-0.9771|-0.9771	8|5	0.32370|.	T|.	0.25|.	.|.	8.3565|8.3565	0.32333|0.32333	0.0:0.218:0.1925:0.5895|0.0:0.218:0.1925:0.5895	.|.	913|.	Q9UFE4|.	CCD39_HUMAN|.	V|S	913|97	.|.	ENSP00000405708:A913V|.	A|P	-|-	2|1	0|0	CCDC39|CCDC39	181815491|181815491	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.031000|0.031000	0.12232|0.12232	-1.322000|-1.322000	0.02695|0.02695	-0.853000|-0.853000	0.04136|0.04136	-0.219000|-0.219000	0.12488|0.12488	GCC|CCT		0.378	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
CCDC39	339829	broad.mit.edu	37	3	180334727	180334727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:180334727C>A	ENST00000442201.2	-	17	2412	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	765					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E765*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCCAAATGTTCTATAACATCT	0.279																																					p.E765X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2293T	3						.						85.0	73.0	77.0					3																	180334727		1791	4057	5848	181817421	SO:0001587	stop_gained	339829	exon17			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2293G>T	3.37:g.180334727C>A	ENSP00000405708:p.Glu765*	Somatic		Capture	Illumina HiSeq	Phase_I	181817421	NM_181426	B4E2H1	Nonsense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966160	0.92855	.	.	ENSG00000145075	ENST00000442201	.	.	.	4.76	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	0.8258	0.01120	0.162:0.3851:0.1814:0.2716	.	.	.	.	X	765	.	ENSP00000405708:E765X	E	-	1	0	CCDC39	181817421	0.979000	0.34478	0.658000	0.29665	0.174000	0.22865	0.800000	0.27042	1.232000	0.43678	-0.459000	0.05422	GAA		0.279	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
CCDC39	339829	broad.mit.edu	37	3	180378429	180378429	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:180378429C>T	ENST00000442201.2	-	4	564	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E233K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	149					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E149K(2)|p.E233K(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAGCTGATTCTTCTAACCAG	0.373																																					p.E149K												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G445A	3						.						114.0	104.0	107.0					3																	180378429		1843	4093	5936	181861123	SO:0001583	missense	339829	exon4			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.445G>A	3.37:g.180378429C>T	ENSP00000405708:p.Glu149Lys	Somatic		Capture	Illumina HiSeq	Phase_I	181861123	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354281	0.95830	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.6	5.6	0.85130	.	0.046518	0.85682	D	0.000000	T	0.79678	0.4487	M	0.77616	2.38	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	T	0.75528	-0.3286	9	0.24483	T	0.36	-25.9589	19.2793	0.94046	0.0:1.0:0.0:0.0	.	149	Q9UFE4	CCD39_HUMAN	K	233;149	.	ENSP00000273654:E233K	E	-	1	0	CCDC39	181861123	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.192000	0.77771	2.653000	0.90120	0.585000	0.79938	GAA		0.373	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
FXR1	8087	broad.mit.edu	37	3	180667024	180667024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:180667024G>T	ENST00000357559.4	+	7	907	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	FXR1_ENST00000480918.1_Nonsense_Mutation_p.E162*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.E90*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.E126*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.E90*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.E175*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	175					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E175*(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTCTGCCAGTGAAGCAACTGT	0.388																																					p.E175X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G523T	3						.						163.0	164.0	164.0					3																	180667024		2203	4300	6503	182149718	SO:0001587	stop_gained	8087	exon7			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.523G>T	3.37:g.180667024G>T	ENSP00000350170:p.Glu175*	Somatic		Capture	Illumina HiSeq	Phase_I	182149718	NM_001013438	A8K9B8|Q7Z450|Q8N6R8	Nonsense_Mutation	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908729	0.97928	.	.	ENSG00000114416	ENST00000469882;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918	.	.	.	5.47	4.59	0.56863	.	0.045787	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.6906	15.7045	0.77565	0.0:0.0:0.8621:0.1379	.	.	.	.	X	90;90;175;90;126;90;175;90;162	.	ENSP00000307633:E90X	E	+	1	0	FXR1	182149718	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.864000	0.99589	1.281000	0.44480	0.467000	0.42956	GAA		0.388	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
DCUN1D1	54165	broad.mit.edu	37	3	182683524	182683524	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:182683524C>T	ENST00000292782.4	-	2	174	c.21G>A	c.(19-21)tcG>tcA	p.S7S	DCUN1D1_ENST00000469954.1_5'UTR	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	7						ubiquitin ligase complex (GO:0000151)		p.S7S(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TATCCTTCTGCGATGATTTCA	0.308																																					p.S7S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G21A	3						.						92.0	94.0	93.0					3																	182683524		2203	4299	6502	184166218	SO:0001819	synonymous_variant	54165	exon2			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.21G>A	3.37:g.182683524C>T		Somatic		Capture	Illumina HiSeq	Phase_I	184166218	NM_020640	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																				0.308	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	
MCF2L2	23101	broad.mit.edu	37	3	182947476	182947476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:182947476C>A	ENST00000328913.3	-	17	2320	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.E675*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.E675*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	675	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E675*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCGTAAAGTTCTCTAATATTC	0.348																																					p.E675X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2023T	3						.						105.0	110.0	108.0					3																	182947476		2203	4300	6503	184430170	SO:0001587	stop_gained	23101	exon17			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2023G>T	3.37:g.182947476C>A	ENSP00000328118:p.Glu675*	Somatic		Capture	Illumina HiSeq	Phase_I	184430170	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796381	0.90453	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9585	0.64164	0.0:1.0:0.0:0.0	.	.	.	.	X	675	.	ENSP00000328118:E675X	E	-	1	0	MCF2L2	184430170	0.995000	0.38212	0.984000	0.44739	0.359000	0.29487	4.067000	0.57527	2.350000	0.79820	0.655000	0.94253	GAA		0.348	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
MCF2L2	23101	broad.mit.edu	37	3	182948759	182948759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:182948759C>A	ENST00000328913.3	-	16	2206	c.1909G>T	c.(1909-1911)Gag>Tag	p.E637*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.E637*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.E637*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	637	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E637*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTTTTAATCTCTTTTATGTAA	0.403																																					p.E637X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1909T	3						.						159.0	148.0	152.0					3																	182948759		2203	4300	6503	184431453	SO:0001587	stop_gained	23101	exon16			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1909G>T	3.37:g.182948759C>A	ENSP00000328118:p.Glu637*	Somatic		Capture	Illumina HiSeq	Phase_I	184431453	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313100	0.97467	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3379	0.66603	0.0:1.0:0.0:0.0	.	.	.	.	X	637	.	ENSP00000328118:E637X	E	-	1	0	MCF2L2	184431453	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.398000	0.52579	2.436000	0.82500	0.591000	0.81541	GAG		0.403	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
B3GNT5	84002	broad.mit.edu	37	3	182988151	182988151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:182988151C>A	ENST00000326505.3	+	2	1095	c.565C>A	c.(565-567)Ctt>Att	p.L189I	MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.L189I|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.L189I	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	189					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)	p.L189I(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGCCAAATTTCTTATGACTGC	0.343																																					p.L189I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C565A	3						.						110.0	109.0	109.0					3																	182988151		2203	4300	6503	184470845	SO:0001583	missense	84002	exon2			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.565C>A	3.37:g.182988151C>A	ENSP00000316173:p.Leu189Ile	Somatic		Capture	Illumina HiSeq	Phase_I	184470845	NM_032047	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	C	9.658	1.143334	0.21205	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.35236	1.32;1.32;1.32	5.91	2.0	0.26442	.	0.292711	0.32901	N	0.005515	T	0.13841	0.0335	N	0.11818	0.18	0.34887	D	0.74518	B	0.18166	0.026	B	0.17722	0.019	T	0.09530	-1.0670	10	0.12430	T	0.62	.	1.0832	0.01647	0.3054:0.3227:0.2084:0.1635	.	189	Q9BYG0	B3GN5_HUMAN	I	189	ENSP00000316173:L189I;ENSP00000420778:L189I;ENSP00000417868:L189I	ENSP00000316173:L189I	L	+	1	0	B3GNT5	184470845	0.215000	0.23574	1.000000	0.80357	0.984000	0.73092	0.135000	0.15952	0.841000	0.35020	0.650000	0.86243	CTT		0.343	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047	
MCF2L2	23101	broad.mit.edu	37	3	183028714	183028714	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:183028714C>T	ENST00000328913.3	-	9	1279	c.982G>A	c.(982-984)Gat>Aat	p.D328N	MCF2L2_ENST00000447025.2_Missense_Mutation_p.D328N|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D328N|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D328N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	328							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D328N(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTACAAAAATCGTGCTCAAAA	0.408																																					p.D328N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	3						.						98.0	96.0	97.0					3																	183028714		2203	4300	6503	184511408	SO:0001583	missense	23101	exon9			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.982G>A	3.37:g.183028714C>T	ENSP00000328118:p.Asp328Asn	Somatic		Capture	Illumina HiSeq	Phase_I	184511408	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	5.991	0.366705	0.11352	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.37	1.66	0.24008	.	0.347798	0.32258	N	0.006353	T	0.14917	0.0360	N	0.11364	0.135	0.26877	N	0.967612	B;B;B	0.16396	0.017;0.009;0.001	B;B;B	0.15484	0.004;0.013;0.001	T	0.13575	-1.0504	10	0.23302	T	0.38	.	3.7179	0.08445	0.0:0.3398:0.1953:0.4649	.	328;328;328	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	N	328	ENSP00000328118:D328N;ENSP00000420070:D328N;ENSP00000388190:D328N;ENSP00000414131:D328N	ENSP00000328118:D328N	D	-	1	0	MCF2L2	184511408	1.000000	0.71417	0.933000	0.37362	0.713000	0.41058	2.275000	0.43399	0.331000	0.23511	-0.302000	0.09304	GAT		0.408	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
ABCC5	10057	broad.mit.edu	37	3	183677530	183677530	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:183677530G>A	ENST00000334444.6	-	17	2713	c.2473C>T	c.(2473-2475)Cca>Tca	p.P825S	ABCC5_ENST00000265586.6_Missense_Mutation_p.P825S	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	825					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.P825S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCTTCCTCTGGCTTTACTGCT	0.333																																					p.P825S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2473T	3						.						161.0	148.0	152.0					3																	183677530		1837	4082	5919	185160224	SO:0001583	missense	10057	exon17			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2473C>T	3.37:g.183677530G>A	ENSP00000333926:p.Pro825Ser	Somatic		Capture	Illumina HiSeq	Phase_I	185160224	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	g	0.941	-0.709384	0.03230	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91631	-2.65;-2.88	5.5	1.04	0.20106	ABC transporter, transmembrane domain, type 1 (1);	0.431173	0.27509	N	0.019059	T	0.77096	0.4080	N	0.12527	0.23	0.22266	N	0.999247	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60084	-0.7332	10	0.09084	T	0.74	-3.3118	2.9064	0.05722	0.0902:0.2375:0.4217:0.2507	.	825;825	Q86UX3;O15440	.;MRP5_HUMAN	S	825;761;825	ENSP00000333926:P825S;ENSP00000265586:P825S	ENSP00000265586:P825S	P	-	1	0	ABCC5	185160224	0.994000	0.37717	1.000000	0.80357	0.708000	0.40852	1.051000	0.30417	0.642000	0.30620	0.556000	0.70494	CCA		0.333	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
ECE2	9718	broad.mit.edu	37	3	184002788	184002788	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:184002788C>T	ENST00000402825.3	+	9	1397	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.S348F|ECE2_ENST00000359140.4_Missense_Mutation_p.S319F|ECE2_ENST00000357474.5_Missense_Mutation_p.S394F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	466	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.S319F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGTTCCTGTCTTTCTTGCTG	0.542											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S466F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1397T	3						.						84.0	81.0	82.0					3																	184002788		2203	4300	6503	185485482	SO:0001583	missense	9718	exon9			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1397C>T	3.37:g.184002788C>T	ENSP00000384223:p.Ser466Phe	Somatic	1988	Capture	Illumina HiSeq	Phase_I	185485482	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069313	0.76301	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	4.21	4.21	0.49690	Peptidase M13 (1);	0.129673	0.53938	D	0.000052	D	0.83482	0.5264	M	0.67397	2.05	0.45378	D	0.998367	P;P;P;P;P;P;D	0.64830	0.953;0.953;0.953;0.82;0.942;0.942;0.994	P;P;P;P;P;P;D	0.66196	0.811;0.905;0.905;0.693;0.847;0.785;0.942	D	0.85832	0.1392	10	0.72032	D	0.01	-9.1459	15.2702	0.73696	0.0:1.0:0.0:0.0	.	68;319;337;348;394;319;466	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	F	466;319;348;394;340	ENSP00000384223:S466F;ENSP00000352052:S319F;ENSP00000385846:S348F;ENSP00000350066:S394F;ENSP00000398444:S340F	ENSP00000350066:S394F	S	+	2	0	ECE2	185485482	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.782000	0.47758	2.190000	0.69967	0.643000	0.83706	TCT		0.542	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
PSMD2	5708	broad.mit.edu	37	3	184021822	184021822	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:184021822C>A	ENST00000310118.4	+	11	1969	c.1411C>A	c.(1411-1413)Ctc>Atc	p.L471I	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.L312I|PSMD2_ENST00000439383.1_Missense_Mutation_p.L341I	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	471					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L471I(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGACTATGTTCTCCACAACAG	0.507																																					p.L471I	Colon(24;313 636 6917 9932 15554)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1411A	3						.						196.0	173.0	181.0					3																	184021822		2203	4300	6503	185504516	SO:0001583	missense	5708	exon11			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1411C>A	3.37:g.184021822C>A	ENSP00000310129:p.Leu471Ile	Somatic		Capture	Illumina HiSeq	Phase_I	185504516	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137196	0.77775	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.33438	1.41;1.41;1.41	5.81	4.91	0.64330	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.51422	1.61	0.51012	D	0.9999	P;B	0.39759	0.687;0.409	P;B	0.45232	0.474;0.143	T	0.02307	-1.1179	10	0.37606	T	0.19	-12.737	11.2699	0.49133	0.0:0.8033:0.128:0.0687	.	312;471	E9PCS3;Q13200	.;PSMD2_HUMAN	I	471;145;463;312;341	ENSP00000310129:L471I;ENSP00000402618:L312I;ENSP00000416028:L341I	ENSP00000310129:L471I	L	+	1	0	PSMD2	185504516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.636000	0.54317	2.758000	0.94735	0.508000	0.49915	CTC		0.507	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	
EPHB3	2049	broad.mit.edu	37	3	184295515	184295515	+	Missense_Mutation	SNP	G	G	A	rs372320884		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:184295515G>A	ENST00000330394.2	+	7	2001	c.1549G>A	c.(1549-1551)Gcc>Acc	p.A517T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	517	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.A517T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCGGCCTGACGCCCGCTATGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17913	0.0		0.0	False		,,,				2504	0.0				p.A517T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1549A	3						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	65.0	67.0	66.0		1549	5.3	1.0	3		66	0,8600		0,0,4300	no	missense	EPHB3	NM_004443.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	517/999	184295515	1,13005	2203	4300	6503	185778209	SO:0001583	missense	2049	exon7			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1549G>A	3.37:g.184295515G>A	ENSP00000332118:p.Ala517Thr	Somatic		Capture	Illumina HiSeq	Phase_I	185778209	NM_004443	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140514	0.21205	2.27E-4	0.0	ENSG00000182580	ENST00000330394	T	0.49139	0.79	5.27	5.27	0.74061	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.065772	0.64402	D	0.000006	T	0.12135	0.0295	N	0.00193	-1.875	0.49915	D	0.999831	B	0.14012	0.009	B	0.13407	0.009	T	0.38950	-0.9637	10	0.02654	T	1	.	11.3602	0.49638	0.0834:0.0:0.9166:0.0	.	517	P54753	EPHB3_HUMAN	T	517	ENSP00000332118:A517T	ENSP00000332118:A517T	A	+	1	0	EPHB3	185778209	1.000000	0.71417	0.953000	0.39169	0.973000	0.67179	6.159000	0.71856	2.455000	0.83008	0.448000	0.29417	GCC		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
VPS8	23355	broad.mit.edu	37	3	184552443	184552443	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:184552443G>T	ENST00000437079.3	+	5	531	c.360G>T	c.(358-360)aaG>aaT	p.K120N	VPS8_ENST00000287546.4_Missense_Mutation_p.K120N|VPS8_ENST00000424463.2_Missense_Mutation_p.K120N|VPS8_ENST00000446204.2_Missense_Mutation_p.K120N|VPS8_ENST00000436792.2_Missense_Mutation_p.K120N	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	120							zinc ion binding (GO:0008270)	p.K120N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCAGGAAGAAGAAATTACCTG	0.343																																					p.K120N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G360T	3						.						59.0	49.0	52.0					3																	184552443		1794	4039	5833	186035137	SO:0001583	missense	23355	exon5			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.360G>T	3.37:g.184552443G>T	ENSP00000397879:p.Lys120Asn	Somatic		Capture	Illumina HiSeq	Phase_I	186035137	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836891	0.71373	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;2.16;2.16	5.95	3.12	0.35913	.	0.048844	0.85682	D	0.000000	T	0.27594	0.0678	L	0.29908	0.895	0.40516	D	0.980781	D;D;D	0.71674	0.969;0.998;0.996	P;D;P	0.66351	0.785;0.943;0.866	T	0.01743	-1.1283	10	0.27082	T	0.32	-21.0985	9.7031	0.40198	0.236:0.0:0.764:0.0	.	120;120;120	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	N	120	ENSP00000287546:K120N;ENSP00000397879:K120N;ENSP00000404704:K120N;ENSP00000405483:K120N;ENSP00000415161:K120N;ENSP00000389480:K120N;ENSP00000409957:K120N;ENSP00000416150:K120N	ENSP00000287546:K120N	K	+	3	2	VPS8	186035137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.547000	0.45786	0.372000	0.24591	0.655000	0.94253	AAG		0.343	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
VPS8	23355	broad.mit.edu	37	3	184571904	184571904	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:184571904A>G	ENST00000437079.3	+	13	1149	c.978A>G	c.(976-978)atA>atG	p.I326M	VPS8_ENST00000287546.4_Missense_Mutation_p.I326M|VPS8_ENST00000446204.2_Missense_Mutation_p.I324M|VPS8_ENST00000436792.2_Missense_Mutation_p.I324M	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	326							zinc ion binding (GO:0008270)	p.I326M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCTTACAGATACTGGTCATTG	0.358																																					p.I326M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A978G	3						.						80.0	74.0	76.0					3																	184571904		1852	4093	5945	186054598	SO:0001583	missense	23355	exon12			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.978A>G	3.37:g.184571904A>G	ENSP00000397879:p.Ile326Met	Somatic		Capture	Illumina HiSeq	Phase_I	186054598	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179646	0.57800	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.77	-1.22	0.09494	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.36672	1.1	0.46131	D	0.99888	B;D	0.76494	0.408;0.999	B;D	0.67548	0.077;0.952	T	0.15752	-1.0426	10	0.62326	D	0.03	-9.6712	2.3501	0.04281	0.2505:0.2678:0.068:0.4137	.	324;324	Q8N3P4-2;Q8N3P4-3	.;.	M	326;326;324;324	ENSP00000287546:I326M;ENSP00000397879:I326M;ENSP00000404704:I324M;ENSP00000405483:I324M	ENSP00000287546:I326M	I	+	3	3	VPS8	186054598	0.995000	0.38212	0.992000	0.48379	0.979000	0.70002	0.513000	0.22770	-0.540000	0.06265	0.460000	0.39030	ATA		0.358	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
VPS8	23355	broad.mit.edu	37	3	184682306	184682306	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:184682306G>T	ENST00000437079.3	+	38	3405	c.3234G>T	c.(3232-3234)aaG>aaT	p.K1078N	VPS8_ENST00000287546.4_Missense_Mutation_p.K1078N|VPS8_ENST00000446204.2_Missense_Mutation_p.K986N|VPS8_ENST00000436792.2_Missense_Mutation_p.K1076N	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1078							zinc ion binding (GO:0008270)	p.K1078N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TATTGGAAAAGAAAGGAGATA	0.299																																					p.K1078N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3234T	3						.						85.0	83.0	84.0					3																	184682306		1706	3720	5426	186165000	SO:0001583	missense	23355	exon37			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3234G>T	3.37:g.184682306G>T	ENSP00000397879:p.Lys1078Asn	Somatic		Capture	Illumina HiSeq	Phase_I	186165000	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600951	0.66332	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.8	4.01	0.46588	Quinonprotein alcohol dehydrogenase-like (1);	0.042607	0.85682	D	0.000000	T	0.43389	0.1245	M	0.77103	2.36	0.52099	D	0.999943	P;D;D	0.69078	0.933;0.997;0.977	P;D;P	0.67725	0.518;0.953;0.787	T	0.34054	-0.9844	10	0.59425	D	0.04	-14.6451	10.3704	0.44051	0.1556:0.0:0.8444:0.0	.	1078;986;1076	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	N	1078;1078;1076;986	ENSP00000287546:K1078N;ENSP00000397879:K1078N;ENSP00000404704:K1076N;ENSP00000405483:K986N	ENSP00000287546:K1078N	K	+	3	2	VPS8	186165000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.918000	0.40006	0.800000	0.34041	0.650000	0.86243	AAG		0.299	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
MAP3K13	9175	broad.mit.edu	37	3	185195169	185195169	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:185195169T>G	ENST00000265026.3	+	12	2820	c.2486T>G	c.(2485-2487)tTt>tGt	p.F829C	MAP3K13_ENST00000446828.1_Missense_Mutation_p.F622C|TMEM41A_ENST00000475480.1_5'Flank|MAP3K13_ENST00000535426.1_Missense_Mutation_p.F685C|MAP3K13_ENST00000424227.1_Missense_Mutation_p.F829C|MAP3K13_ENST00000443863.1_Missense_Mutation_p.F685C	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.F829C(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGTTGAATTTCCACGAAGA	0.403																																					p.F829C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2486G	3						.						125.0	119.0	121.0					3																	185195169		2203	4300	6503	186677863	SO:0001583	missense	9175	exon12			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2486T>G	3.37:g.185195169T>G	ENSP00000265026:p.Phe829Cys	Somatic		Capture	Illumina HiSeq	Phase_I	186677863	NM_004721		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355263	0.82243	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.79653	-1.29;-1.23;-1.16;-1.16;-1.23	5.82	5.82	0.92795	.	0.057820	0.64402	D	0.000001	D	0.83603	0.5290	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.85631	0.1270	10	0.59425	D	0.04	.	16.1633	0.81734	0.0:0.0:0.0:1.0	.	685;622;829	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	C	622;829;685;685;829	ENSP00000411483:F622C;ENSP00000399910:F829C;ENSP00000409325:F685C;ENSP00000439257:F685C;ENSP00000265026:F829C	ENSP00000265026:F829C	F	+	2	0	MAP3K13	186677863	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.884000	0.87274	2.221000	0.72209	0.379000	0.24179	TTT		0.403	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
IGF2BP2	10644	broad.mit.edu	37	3	185364846	185364846	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:185364846G>A	ENST00000382199.2	-	15	1769	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	IGF2BP2_ENST00000346192.3_Silent_p.I515I|IGF2BP2_ENST00000457616.2_Silent_p.I564I|IGF2BP2_ENST00000421047.2_Silent_p.I501I|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	558	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.I558I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAATTCTGACGATCACTTCCT	0.502																																					p.I558I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1674T	3						.						219.0	180.0	193.0					3																	185364846		2203	4300	6503	186847540	SO:0001819	synonymous_variant	10644	exon15			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1674C>T	3.37:g.185364846G>A		Somatic		Capture	Illumina HiSeq	Phase_I	186847540	NM_006548	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	CCDS3273.2																																																																																				0.502	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548	
TRA2B	6434	broad.mit.edu	37	3	185643369	185643369	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:185643369C>T	ENST00000453386.2	-	3	491	c.216G>A	c.(214-216)cgG>cgA	p.R72R	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	72	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R72R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GGGAGCGAGACCGTGACCGGG	0.498																																					p.R72R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G216A	3						.						126.0	116.0	119.0					3																	185643369		2203	4300	6503	187126063	SO:0001819	synonymous_variant	6434	exon3			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.216G>A	3.37:g.185643369C>T		Somatic		Capture	Illumina HiSeq	Phase_I	187126063	NM_004593	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Silent	SNP	ENST00000453386.2	37	CCDS33905.1																																																																																				0.498	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	
ETV5	2119	broad.mit.edu	37	3	185774980	185774980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:185774980G>A	ENST00000306376.5	-	11	1339	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ETV5_ENST00000434744.1_Nonsense_Mutation_p.R365*|ETV5_ENST00000537818.1_Nonsense_Mutation_p.R407*|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	365					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R365*(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGGAACCTCGCCTCTGGTAA	0.532			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.R365X			Dom	yes		3	3q28	2119	ets variant gene 5		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1093T	3						.						117.0	119.0	118.0					3																	185774980		2203	4300	6503	187257674	SO:0001587	stop_gained	2119	exon11			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1093C>T	3.37:g.185774980G>A	ENSP00000306894:p.Arg365*	Somatic		Capture	Illumina HiSeq	Phase_I	187257674	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Nonsense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	37	6.283025	0.97440	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	.	.	.	5.69	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0566	0.58984	0.0:0.0:0.4592:0.5408	.	.	.	.	X	365;365;407	.	ENSP00000306894:R365X	R	-	1	2	ETV5	187257674	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.267000	0.51577	0.673000	0.31224	0.655000	0.94253	CGA		0.532	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
TBCCD1	55171	broad.mit.edu	37	3	186269035	186269035	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186269035C>A	ENST00000424280.1	-	7	2057	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	TBCCD1_ENST00000446782.1_Missense_Mutation_p.E430D|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E526D|TBCCD1_ENST00000479590.1_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	526				E -> D (in Ref. 1; BAG54031). {ECO:0000305}.	cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.E526D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAAACTTGTTCTCTACCAGTA	0.398																																					p.E526D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1578T	3						.						126.0	112.0	116.0					3																	186269035		2203	4300	6503	187751729	SO:0001583	missense	55171	exon7			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1578G>T	3.37:g.186269035C>A	ENSP00000411253:p.Glu526Asp	Somatic		Capture	Illumina HiSeq	Phase_I	187751729	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373879	0.61624	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.84730	-1.88;-1.88;-1.89	5.39	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	L	0.58925	1.835	0.47778	D	0.999512	P;P	0.42409	0.737;0.779	P;B	0.45167	0.472;0.311	T	0.80582	-0.1318	10	0.40728	T	0.16	-18.7405	7.4034	0.26977	0.0:0.7972:0.0:0.2028	.	430;526	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	D	526;526;430	ENSP00000411253:E526D;ENSP00000341652:E526D;ENSP00000397091:E430D	ENSP00000341652:E526D	E	-	3	2	TBCCD1	187751729	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.308000	0.33528	1.234000	0.43709	0.650000	0.86243	GAG		0.398	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
HRG	3273	broad.mit.edu	37	3	186394974	186394974	+	Missense_Mutation	SNP	G	G	A	rs140336956	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186394974G>A	ENST00000232003.4	+	7	960	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	294	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.E294K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAAGCCACACGAACATGGACC	0.547																																					p.E294K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	3						.						209.0	169.0	183.0					3																	186394974		2203	4300	6503	187877668	SO:0001583	missense	3273	exon7				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.880G>A	3.37:g.186394974G>A	ENSP00000232003:p.Glu294Lys	Somatic		Capture	Illumina HiSeq	Phase_I	187877668	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671321	0.03403	.	.	ENSG00000113905	ENST00000232003	T	0.16597	2.33	4.05	-8.09	0.01090	.	1.114660	0.06781	N	0.785327	T	0.04407	0.0121	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42599	-0.9442	10	0.05351	T	0.99	5.1083	10.491	0.44750	0.2381:0.1263:0.6357:0.0	.	294	P04196	HRG_HUMAN	K	294	ENSP00000232003:E294K	ENSP00000232003:E294K	E	+	1	0	HRG	187877668	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.026000	0.01434	-1.847000	0.01173	-0.263000	0.10527	GAA		0.547	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
HRG	3273	broad.mit.edu	37	3	186395157	186395157	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186395157C>A	ENST00000232003.4	+	7	1143	c.1063C>A	c.(1063-1065)Cat>Aat	p.H355N		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	355	His/Pro-rich (HRR).|Necessary for endothelial cell focal adhesions and anti-angiogenic activities.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.H355N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ccataagcatcattcccatga	0.493																																					p.H355N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063A	3						.						163.0	141.0	148.0					3																	186395157		2203	4300	6503	187877851	SO:0001583	missense	3273	exon7				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1063C>A	3.37:g.186395157C>A	ENSP00000232003:p.His355Asn	Somatic		Capture	Illumina HiSeq	Phase_I	187877851	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.602062	0.00849	.	.	ENSG00000113905	ENST00000232003	T	0.12465	2.68	4.24	2.24	0.28232	.	0.242220	0.29376	N	0.012323	T	0.08133	0.0203	L	0.38175	1.15	0.09310	N	1	B	0.29432	0.244	B	0.21360	0.034	T	0.30504	-0.9976	10	0.17832	T	0.49	-0.2294	6.6019	0.22705	0.2075:0.5916:0.2009:0.0	.	355	P04196	HRG_HUMAN	N	355	ENSP00000232003:H355N	ENSP00000232003:H355N	H	+	1	0	HRG	187877851	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.146000	0.16180	1.128000	0.42052	0.555000	0.69702	CAT		0.493	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
HRG	3273	broad.mit.edu	37	3	186395490	186395490	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186395490A>C	ENST00000232003.4	+	7	1476	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	466	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.K466Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCCTCTAAGAAAAGGTGAGGT	0.537																																					p.K466Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1396C	3						.						101.0	100.0	101.0					3																	186395490		2203	4300	6503	187878184	SO:0001583	missense	3273	exon7				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1396A>C	3.37:g.186395490A>C	ENSP00000232003:p.Lys466Gln	Somatic		Capture	Illumina HiSeq	Phase_I	187878184	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463554	0.26248	.	.	ENSG00000113905	ENST00000232003	T	0.14144	2.53	5.23	2.77	0.32553	.	0.639156	0.14460	N	0.318248	T	0.14141	0.0342	L	0.34521	1.04	0.09310	N	1	D	0.54601	0.967	P	0.52424	0.698	T	0.13255	-1.0516	10	0.13853	T	0.58	-1.0058	7.2934	0.26378	0.8261:0.0:0.1739:0.0	.	466	P04196	HRG_HUMAN	Q	466	ENSP00000232003:K466Q	ENSP00000232003:K466Q	K	+	1	0	HRG	187878184	0.001000	0.12720	0.015000	0.15790	0.001000	0.01503	0.199000	0.17237	0.379000	0.24794	0.454000	0.30748	AAA		0.537	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
KNG1	3827	broad.mit.edu	37	3	186459581	186459581	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186459581G>A	ENST00000265023.4	+	10	1608	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	466	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E466K(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CCATGGACACGAACAACAGCA	0.463																																					p.E466K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1396A	3						.						70.0	67.0	68.0					3																	186459581		2074	4211	6285	187942275	SO:0001583	missense	3827	exon10				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1396G>A	3.37:g.186459581G>A	ENSP00000265023:p.Glu466Lys	Somatic		Capture	Illumina HiSeq	Phase_I	187942275	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675260	0.14841	.	.	ENSG00000113889	ENST00000265023	T	0.14266	2.52	4.65	1.68	0.24146	.	0.275476	0.26397	N	0.024606	T	0.03915	0.0110	N	0.01576	-0.805	0.24716	N	0.993172	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	9	.	.	.	-5.0555	7.9248	0.29867	0.504:0.3508:0.1452:0.0	.	466	P01042	KNG1_HUMAN	K	466	ENSP00000265023:E466K	.	E	+	1	0	KNG1	187942275	0.001000	0.12720	0.006000	0.13384	0.003000	0.03518	0.405000	0.21015	0.089000	0.17243	-0.828000	0.03084	GAA		0.463	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	
ADIPOQ	9370	broad.mit.edu	37	3	186571973	186571973	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186571973G>A	ENST00000412955.2	+	3	356	c.215G>A	c.(214-216)gGt>gAt	p.G72D	ADIPOQ_ENST00000444204.2_Splice_Site_p.G72D|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Splice_Site_p.G72D			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	72	Collagen-like.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.G72D(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CATTCCTTAGGTCTTATTGGT	0.522																																					p.G72D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	3						.						41.0	42.0	42.0					3																	186571973		2203	4300	6503	188054667	SO:0001630	splice_region_variant	9370	exon3			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.215-1G>A	3.37:g.186571973G>A		Somatic		Capture	Illumina HiSeq	Phase_I	188054667	NM_004797	Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529097	0.64860	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.99532	-6.1;-6.1;-6.1	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96830	0.9610	9	.	.	.	.	16.9547	0.86256	0.0:0.0:1.0:0.0	.	72	Q15848	ADIPO_HUMAN	D	72	ENSP00000405611:G72D;ENSP00000320709:G72D;ENSP00000389814:G72D	.	G	+	2	0	ADIPOQ	188054667	1.000000	0.71417	0.998000	0.56505	0.230000	0.25150	8.313000	0.89978	2.692000	0.91855	0.491000	0.48974	GGT		0.522	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797	Missense_Mutation
ST6GAL1	6480	broad.mit.edu	37	3	186791973	186791973	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:186791973C>A	ENST00000169298.3	+	7	1505	c.831C>A	c.(829-831)ttC>ttA	p.F277L	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.F46L|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.F277L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	277					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)	p.F277L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ATTATAATTTCTTTAACAACT	0.463																																					p.F277L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C831A	3						.						104.0	110.0	108.0					3																	186791973		2203	4300	6503	188274667	SO:0001583	missense	6480	exon7			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.831C>A	3.37:g.186791973C>A	ENSP00000169298:p.Phe277Leu	Somatic		Capture	Illumina HiSeq	Phase_I	188274667	NM_173216	A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	9.878	1.200910	0.22121	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000427315;ENST00000448044;ENST00000442023	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	.	0.048218	0.85682	D	0.000000	T	0.29684	0.0741	L	0.42581	1.335	0.49582	D	0.999801	B	0.22146	0.065	B	0.31101	0.124	T	0.06215	-1.0839	10	0.10377	T	0.69	-30.5394	17.3798	0.87401	0.0:1.0:0.0:0.0	.	277	P15907	SIAT1_HUMAN	L	277;46;46;277;46	ENSP00000169298:F277L;ENSP00000412221:F46L;ENSP00000389337:F277L;ENSP00000403063:F46L	ENSP00000169298:F277L	F	+	3	2	ST6GAL1	188274667	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	2.312000	0.43726	2.789000	0.95967	0.655000	0.94253	TTC		0.463	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216	
BCL6	604	broad.mit.edu	37	3	187447620	187447620	+	Silent	SNP	C	C	T	rs370653196		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:187447620C>T	ENST00000406870.2	-	5	939	c.573G>A	c.(571-573)ccG>ccA	p.P191P	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.P191P|BCL6_ENST00000450123.2_Silent_p.P191P|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	191					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P191P(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAGAGGCTGGCGGTGTGGACA	0.622			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.P191P			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G573A	3						.	C	,,	0,4406		0,0,2203	55.0	55.0	55.0		573,573,573	-1.9	1.0	3		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	191/707,191/651,191/707	187447620	1,13005	2203	4300	6503	188930314	SO:0001819	synonymous_variant	604	exon5				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.573G>A	3.37:g.187447620C>T		Somatic		Capture	Illumina HiSeq	Phase_I	188930314	NM_001130845	A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	CCDS3289.1																																																																																				0.622	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
LEPREL1	55214	broad.mit.edu	37	3	189712006	189712006	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:189712006C>T	ENST00000319332.5	-	3	897	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E53K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	234					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.E234K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAGGCTTGTTCGAAGTGCCTG	0.408																																					p.E53K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	3						.						87.0	85.0	86.0					3																	189712006		2203	4300	6503	191194700	SO:0001583	missense	55214	exon3				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.700G>A	3.37:g.189712006C>T	ENSP00000316881:p.Glu234Lys	Somatic		Capture	Illumina HiSeq	Phase_I	191194700	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399815	0.83120	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	D;T;T;T	0.89746	-2.56;0.11;0.11;0.11	5.96	5.96	0.96718	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.94523	0.7729	9	.	.	.	-22.5722	19.3889	0.94570	0.0:1.0:0.0:0.0	.	234	Q8IVL5	P3H2_HUMAN	K	234;53;53;53	ENSP00000316881:E234K;ENSP00000408947:E53K;ENSP00000391374:E53K;ENSP00000394326:E53K	.	E	-	1	0	LEPREL1	191194700	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	7.162000	0.77515	2.826000	0.97356	0.655000	0.94253	GAA		0.408	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
ATP13A5	344905	broad.mit.edu	37	3	193029639	193029639	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:193029639A>G	ENST00000342358.4	-	20	2528	c.2411T>C	c.(2410-2412)gTg>gCg	p.V804A	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	804						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.V804A(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTGAAATATCACTTGGTATGA	0.418																																					p.V804A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2411C	3						.						126.0	114.0	118.0					3																	193029639		2203	4300	6503	194512333	SO:0001583	missense	344905	exon20			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2411T>C	3.37:g.193029639A>G	ENSP00000341942:p.Val804Ala	Somatic		Capture	Illumina HiSeq	Phase_I	194512333	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460688	0.63513	.	.	ENSG00000187527	ENST00000342358	D	0.84442	-1.85	5.96	5.96	0.96718	HAD-like domain (2);	0.274240	0.30510	N	0.009473	T	0.81173	0.4767	L	0.43701	1.375	0.37892	D	0.930753	B	0.32324	0.364	B	0.34931	0.192	T	0.80279	-0.1449	10	0.27082	T	0.32	-18.1629	14.3967	0.67015	1.0:0.0:0.0:0.0	.	804	Q4VNC0	AT135_HUMAN	A	804	ENSP00000341942:V804A	ENSP00000341942:V804A	V	-	2	0	ATP13A5	194512333	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.111000	0.57838	2.284000	0.76573	0.528000	0.53228	GTG		0.418	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
ATP13A5	344905	broad.mit.edu	37	3	193031887	193031887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:193031887C>A	ENST00000342358.4	-	19	2371	c.2254G>T	c.(2254-2256)Gaa>Taa	p.E752*	ATP13A5_ENST00000495496.1_5'Flank|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	752						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E752*(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGAACAAATTCTTCTGGTTCA	0.498																																					p.E752X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2254T	3						.						135.0	131.0	132.0					3																	193031887		2203	4300	6503	194514581	SO:0001587	stop_gained	344905	exon19			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2254G>T	3.37:g.193031887C>A	ENSP00000341942:p.Glu752*	Somatic		Capture	Illumina HiSeq	Phase_I	194514581	NM_198505	Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	40	8.312130	0.98754	.	.	ENSG00000187527	ENST00000342358	.	.	.	5.72	4.85	0.62838	.	0.557064	0.18429	N	0.141485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-4.6303	12.2604	0.54647	0.0:0.918:0.0:0.082	.	.	.	.	X	752	.	ENSP00000341942:E752X	E	-	1	0	ATP13A5	194514581	0.996000	0.38824	0.964000	0.40570	0.986000	0.74619	2.071000	0.41500	1.420000	0.47138	0.655000	0.94253	GAA		0.498	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
CPN2	1370	broad.mit.edu	37	3	194063267	194063267	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:194063267G>T	ENST00000323830.3	-	2	254	c.165C>A	c.(163-165)atC>atA	p.I55I	CPN2_ENST00000429275.1_Silent_p.I55I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	55					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.I55I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TCTCCACAAAGATGATGTTTT	0.517																																					p.I55I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165A	3						.						150.0	138.0	142.0					3																	194063267		2203	4300	6503	195544962	SO:0001819	synonymous_variant	1370	exon2			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.165C>A	3.37:g.194063267G>T		Somatic		Capture	Illumina HiSeq	Phase_I	195544962	NM_001080513	B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1																																																																																				0.517	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
LRRC15	131578	broad.mit.edu	37	3	194080469	194080469	+	Missense_Mutation	SNP	C	C	T	rs147842966	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:194080469C>T	ENST00000347624.3	-	2	1389	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	LRRC15_ENST00000428839.1_Missense_Mutation_p.R441H|LRRC15_ENST00000439944.2_Missense_Mutation_p.R441H	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	435	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.R435H(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GAGCCAGTTGCGGAGCGGAAG	0.557													C|||	7	0.00139776	0.003	0.0014	5008	,	,		20545	0.002		0.0	False		,,,				2504	0.0				p.R435H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1304A	3						.	C	HIS/ARG,HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	72.0	62.0	66.0		1322,1304	-0.3	0.2	3	dbSNP_134	66	1,8599		0,1,4299	yes	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	29,29	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	benign,benign	441/588,435/582	194080469	14,12992	2203	4300	6503	195561764	SO:0001583	missense	131578	exon2			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1304G>A	3.37:g.194080469C>T	ENSP00000306276:p.Arg435His	Somatic		Capture	Illumina HiSeq	Phase_I	195561764	NM_130830	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	9.182	1.023748	0.19433	0.002951	1.16E-4	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.25414	1.8;1.8;1.8	5.35	-0.319	0.12725	Cysteine-rich flanking region, C-terminal (1);	0.961185	0.08661	N	0.912364	T	0.14485	0.0350	N	0.13235	0.315	0.09310	N	0.999998	B;B	0.13145	0.002;0.007	B;B	0.08055	0.001;0.003	T	0.35301	-0.9794	10	0.13853	T	0.58	.	12.37	0.55250	0.0:0.5174:0.0:0.4826	.	435;441	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	H	435;441;441	ENSP00000306276:R435H;ENSP00000389128:R441H;ENSP00000413707:R441H	ENSP00000306276:R435H	R	-	2	0	LRRC15	195561764	0.000000	0.05858	0.164000	0.22755	0.864000	0.49448	0.316000	0.19469	-0.296000	0.08947	-0.136000	0.14681	CGC		0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
NRROS	375387	broad.mit.edu	37	3	196387902	196387902	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:196387902C>A	ENST00000328557.4	+	3	1591	c.1388C>A	c.(1387-1389)tCt>tAt	p.S463Y		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	463					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S463Y(1)									AATATGGCATCTTTAAGGAGC	0.572																																					p.S463Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1388A	3						.						92.0	93.0	93.0					3																	196387902		2203	4300	6503	197872299	SO:0001583	missense	375387	exon3			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1388C>A	3.37:g.196387902C>A	ENSP00000328625:p.Ser463Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	197872299	NM_198565		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146243	0.77888	.	.	ENSG00000174004	ENST00000328557	T	0.56103	0.48	5.83	5.83	0.93111	.	0.120124	0.64402	D	0.000017	T	0.62744	0.2453	M	0.84082	2.675	0.80722	D	1	P	0.45283	0.855	B	0.41571	0.36	T	0.70502	-0.4854	10	0.87932	D	0	.	20.126	0.97982	0.0:1.0:0.0:0.0	.	463	Q86YC3	LRC33_HUMAN	Y	463	ENSP00000328625:S463Y	ENSP00000328625:S463Y	S	+	2	0	LRRC33	197872299	1.000000	0.71417	0.749000	0.31150	0.883000	0.51084	7.456000	0.80751	2.749000	0.94314	0.655000	0.94253	TCT		0.572	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565	
CHL1	10752	broad.mit.edu	37	3	386349	386349	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:386349C>A	ENST00000256509.2	+	9	1447	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	CHL1_ENST00000397491.2_Missense_Mutation_p.L253I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L269I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AATTACCATCCTCAAAGGGGA	0.418																																					p.L269I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805A	3						.						161.0	145.0	151.0					3																	386349		2203	4300	6503	361349	SO:0001583	missense	10752	exon9			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.805C>A	3.37:g.386349C>A	ENSP00000256509:p.Leu269Ile	Somatic		Capture	Illumina HiSeq	Phase_I	361349	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109666	0.37242	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.66995	-0.24;-0.24	5.51	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.214637	0.40385	N	0.001104	T	0.65565	0.2703	L	0.40543	1.245	0.35563	D	0.804841	B;P;B	0.35894	0.214;0.526;0.018	B;P;B	0.45856	0.177;0.495;0.036	T	0.74393	-0.3680	10	0.52906	T	0.07	.	12.806	0.57614	0.2292:0.7708:0.0:0.0	.	253;253;269	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	269;253	ENSP00000256509:L269I;ENSP00000380628:L253I	ENSP00000256509:L269I	L	+	1	0	CHL1	361349	1.000000	0.71417	0.994000	0.49952	0.664000	0.39144	1.796000	0.38794	2.571000	0.86741	0.650000	0.86243	CTC		0.418	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	440023	440023	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:440023G>A	ENST00000256509.2	+	25	3850	c.3208G>A	c.(3208-3210)Gat>Aat	p.D1070N	CHL1_ENST00000397491.2_Missense_Mutation_p.D1054N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D1070N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAATTGGGGCGATAATGATAG	0.383																																					p.D1070N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3208A	3						.						88.0	86.0	87.0					3																	440023		2203	4300	6503	415023	SO:0001583	missense	10752	exon25			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3208G>A	3.37:g.440023G>A	ENSP00000256509:p.Asp1070Asn	Somatic		Capture	Illumina HiSeq	Phase_I	415023	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180456	0.78677	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.61980	0.06;0.08	5.72	5.72	0.89469	.	0.260617	0.37669	N	0.001997	T	0.68559	0.3014	L	0.29908	0.895	0.53688	D	0.999973	B;D	0.89917	0.074;1.0	B;P	0.61397	0.018;0.888	T	0.70539	-0.4844	10	0.62326	D	0.03	.	18.0416	0.89320	0.0:0.0:1.0:0.0	.	1054;1070	O00533;O00533-2	CHL1_HUMAN;.	N	1070;1054	ENSP00000256509:D1070N;ENSP00000380628:D1054N	ENSP00000256509:D1070N	D	+	1	0	CHL1	415023	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.432000	0.73400	2.711000	0.92665	0.650000	0.86243	GAT		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	443314	443314	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:443314G>A	ENST00000256509.2	+	27	4033	c.3391G>A	c.(3391-3393)Gaa>Aaa	p.E1131K	CHL1_ENST00000397491.2_Missense_Mutation_p.E1115K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E1131K(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTAGTTAAAGAAAAGGAAGA	0.323																																					p.E1131K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3391A	3						.						61.0	65.0	63.0					3																	443314		2203	4297	6500	418314	SO:0001583	missense	10752	exon27			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3391G>A	3.37:g.443314G>A	ENSP00000256509:p.Glu1131Lys	Somatic		Capture	Illumina HiSeq	Phase_I	418314	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688783	0.88639	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.86230	-2.09;-2.09	5.22	5.22	0.72569	.	0.060087	0.64402	D	0.000004	D	0.93648	0.7971	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.94311	0.7545	10	0.87932	D	0	.	18.7573	0.91837	0.0:0.0:1.0:0.0	.	1115;1131	O00533;O00533-2	CHL1_HUMAN;.	K	1131;1115	ENSP00000256509:E1131K;ENSP00000380628:E1115K	ENSP00000256509:E1131K	E	+	1	0	CHL1	418314	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	8.702000	0.91338	2.421000	0.82119	0.591000	0.81541	GAA		0.323	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN4	152330	broad.mit.edu	37	3	2908482	2908482	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:2908482T>G	ENST00000397461.1	+	7	885	c.501T>G	c.(499-501)gaT>gaG	p.D167E	CNTN4_ENST00000427331.1_Missense_Mutation_p.D167E|CNTN4_ENST00000418658.1_Missense_Mutation_p.D167E|CNTN4_ENST00000358480.3_De_novo_Start_OutOfFrame	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	167	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.D167E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCTATCAGGATAATCGCCGCT	0.388																																					p.D167E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T501G	3						.						139.0	127.0	131.0					3																	2908482		1826	4083	5909	2883482	SO:0001583	missense	152330	exon7			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.501T>G	3.37:g.2908482T>G	ENSP00000380602:p.Asp167Glu	Somatic		Capture	Illumina HiSeq	Phase_I	2883482	NM_175607	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883622	0.72410	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.77620	-1.11;-1.11;-1.11	5.33	1.67	0.24075	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.83312	2.635	0.80722	D	1	P;D	0.89917	0.935;1.0	D;D	0.85130	0.917;0.997	T	0.82202	-0.0574	10	0.37606	T	0.19	.	9.0471	0.36354	0.0:0.398:0.0:0.602	.	167;167	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	E	167	ENSP00000396010:D167E;ENSP00000380602:D167E;ENSP00000413642:D167E	ENSP00000380602:D167E	D	+	3	2	CNTN4	2883482	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.990000	0.29642	0.051000	0.15978	-0.256000	0.11100	GAT		0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
CRBN	51185	broad.mit.edu	37	3	3197946	3197946	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:3197946T>G	ENST00000231948.4	-	6	729	c.707A>C	c.(706-708)aAt>aCt	p.N236T	RP11-97C16.1_ENST00000607052.1_RNA|CRBN_ENST00000432408.2_Missense_Mutation_p.N235T	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	236	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)	p.N236T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	TGAAGTTAGATTTGCACAATG	0.343																																					p.N235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704C	3						.						66.0	73.0	70.0					3																	3197946		2203	4300	6503	3172946	SO:0001583	missense	51185	exon6			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.707A>C	3.37:g.3197946T>G	ENSP00000231948:p.Asn236Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3172946	NM_001173482	B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.74|13.74	2.327102|2.327102	0.41197|0.41197	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000424814|ENST00000231948;ENST00000432408;ENST00000546075	.|.	.|.	.|.	5.61|5.61	4.48|4.48	0.54585|0.54585	.|Peptidase S16, lon N-terminal (2);PUA-like domain (1);	.|0.039307	.|0.85682	.|D	.|0.000000	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.14661|0.14661	0.345|0.345	0.41473|0.41473	D|D	0.988117|0.988117	.|B;B;B	.|0.20164	.|0.034;0.034;0.042	.|B;B;B	.|0.22880	.|0.036;0.025;0.042	T|T	0.16660|0.16660	-1.0395|-1.0395	5|9	.|0.15066	.|T	.|0.55	-34.9465|-34.9465	3.4483|3.4483	0.07488|0.07488	0.0:0.3292:0.0:0.6708|0.0:0.3292:0.0:0.6708	.|.	.|173;235;236	.|F5H3U1;Q96SW2-2;Q96SW2	.|.;.;CRBN_HUMAN	L|T	232|236;235;173	.|.	.|ENSP00000231948:N236T	I|N	-|-	1|2	0|0	CRBN|CRBN	3172946|3172946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.911000|2.911000	0.48774|0.48774	2.132000|2.132000	0.65825|0.65825	0.460000|0.460000	0.39030|0.39030	ATC|AAT		0.343	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302	
SETMAR	6419	broad.mit.edu	37	3	4358834	4358834	+	Silent	SNP	C	C	T	rs370552354		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:4358834C>T	ENST00000358065.4	+	3	2026	c.1959C>T	c.(1957-1959)gtC>gtT	p.V653V	SETMAR_ENST00000425863.1_Silent_p.V514V|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	653	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)	p.V640V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		aagagttcgtcgaatcccaaa	0.393								Chromatin Structure																													p.V653V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1959T	3						.						15.0	16.0	16.0					3																	4358834		1554	2714	4268	4333834	SO:0001819	synonymous_variant	6419	exon3			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1959C>T	3.37:g.4358834C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4333834	NM_006515	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Silent	SNP	ENST00000358065.4	37	CCDS2563.2																																																																																				0.393	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515	
LMCD1	29995	broad.mit.edu	37	3	8607210	8607210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:8607210C>A	ENST00000157600.3	+	5	1048	c.816C>A	c.(814-816)tgC>tgA	p.C272*	LMCD1_ENST00000454244.1_Nonsense_Mutation_p.C199*|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Nonsense_Mutation_p.C160*	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	272	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C272*(1)		breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ACCCCACCTGCTTTGTGTGTG	0.637																																					p.C272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C816A	3						.						62.0	66.0	64.0					3																	8607210		2203	4300	6503	8582210	SO:0001587	stop_gained	29995	exon5			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.816C>A	3.37:g.8607210C>A	ENSP00000157600:p.Cys272*	Somatic		Capture	Illumina HiSeq	Phase_I	8582210	NM_014583	B4DG80	Nonsense_Mutation	SNP	ENST00000157600.3	37	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	C	38	7.166451	0.98107	.	.	ENSG00000071282	ENST00000157600;ENST00000454244;ENST00000397386	.	.	.	5.7	3.92	0.45320	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6647	11.1081	0.48214	0.0:0.8498:0.0:0.1502	.	.	.	.	X	272;199;160	.	ENSP00000157600:C272X	C	+	3	2	LMCD1	8582210	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.640000	0.37186	0.770000	0.33336	0.591000	0.81541	TGC		0.637	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583	
OGG1	4968	broad.mit.edu	37	3	9793494	9793494	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:9793494C>A	ENST00000344629.7	+	3	769	c.426C>A	c.(424-426)ttC>ttA	p.F142L	OGG1_ENST00000302008.8_Missense_Mutation_p.F142L|OGG1_ENST00000302036.7_Missense_Mutation_p.F142L|OGG1_ENST00000302003.7_Missense_Mutation_p.F142L|OGG1_ENST00000383826.5_Missense_Mutation_p.F142L|OGG1_ENST00000339511.5_Missense_Mutation_p.F142L|OGG1_ENST00000349503.5_Missense_Mutation_p.F142L|OGG1_ENST00000449570.2_Missense_Mutation_p.F142L			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	142					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.F142L(1)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AATGCCTTTTCTCTTTTATCT	0.562								Base excision repair (BER), DNA glycosylases																													p.F142L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C426A	3						.						220.0	202.0	208.0					3																	9793494		2203	4300	6503	9768494	SO:0001583	missense	4968	exon3			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.426C>A	3.37:g.9793494C>A	ENSP00000342851:p.Phe142Leu	Somatic		Capture	Illumina HiSeq	Phase_I	9768494	NM_016828	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.57|19.57|19.57	3.852220|3.852220|3.852220	0.71719|0.71719|0.71719	.|.|.	.|.|.	ENSG00000114026|ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826|ENST00000352937|ENST00000441094;ENST00000426518	T;T;T;T;T;T;T;T|.|.	0.51574|.|.	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7|.|.	5.26|5.26|5.26	3.45|3.45|3.45	0.39498|0.39498|0.39498	DNA glycosylase (2);|.|.	0.092218|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.57388|0.57388|0.57388	0.2050|0.2050|0.2050	L|L|L	0.49126|0.49126|0.49126	1.545|1.545|1.545	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	P;P;P;P;P;P;B;P|.|.	0.51351|.|.	0.462;0.915;0.915;0.874;0.818;0.944;0.308;0.698|.|.	P;P;P;B;B;P;B;B|.|.	0.49999|.|.	0.472;0.628;0.479;0.33;0.348;0.597;0.166;0.086|.|.	T|T|T	0.53457|0.53457|0.53457	-0.8436|-0.8436|-0.8436	10|5|5	0.41790|.|.	T|.|.	0.15|.|.	-21.5897|-21.5897|-21.5897	9.0024|9.0024|9.0024	0.36090|0.36090|0.36090	0.0:0.7399:0.1208:0.1393|0.0:0.7399:0.1208:0.1393|0.0:0.7399:0.1208:0.1393	.|.|.	142;142;142;142;142;142;142;142|.|.	E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2|.|.	.;.;.;.;.;.;OGG1_HUMAN;.|.|.	L|I|Y	142|48|40;52	ENSP00000305584:F142L;ENSP00000342851:F142L;ENSP00000306561:F142L;ENSP00000303132:F142L;ENSP00000345520:F142L;ENSP00000403598:F142L;ENSP00000305527:F142L;ENSP00000373337:F142L|.|.	ENSP00000305584:F142L|.|.	F|L|S	+|+|+	3|1|2	2|0|0	OGG1|OGG1|OGG1	9768494|9768494|9768494	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	1.431000|1.431000|1.431000	0.34925|0.34925|0.34925	1.195000|1.195000|1.195000	0.43115|0.43115|0.43115	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTC|TCT		0.562	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821	
PRRT3	285368	broad.mit.edu	37	3	9991667	9991667	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:9991667C>A	ENST00000412055.1	-	2	262	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.A45S	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	45						integral component of membrane (GO:0016021)		p.A45S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TTGGGGTGGGCTCCAGGGATC	0.627																																					p.A45S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133T	3						.						51.0	56.0	54.0					3																	9991667		1876	4111	5987	9966667	SO:0001583	missense	285368	exon2			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.133G>T	3.37:g.9991667C>A	ENSP00000392511:p.Ala45Ser	Somatic		Capture	Illumina HiSeq	Phase_I	9966667	NM_207351	Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	C	6.615	0.481874	0.12581	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.26957	2.04;1.7	2.97	2.97	0.34412	.	0.352424	0.22955	N	0.053610	T	0.15782	0.0380	L	0.27053	0.805	0.09310	N	0.999999	P;B	0.36199	0.543;0.053	B;B	0.35039	0.194;0.026	T	0.12915	-1.0529	9	.	.	.	-4.6728	9.6647	0.39977	0.0:1.0:0.0:0.0	.	45;45	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	S	45	ENSP00000392511:A45S;ENSP00000404512:A45S	.	A	-	1	0	PRRT3	9966667	0.007000	0.16637	0.176000	0.23000	0.017000	0.09413	0.694000	0.25512	1.969000	0.57287	0.557000	0.71058	GCC		0.627	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	
EFHB	151651	broad.mit.edu	37	3	19975026	19975026	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:19975026G>T	ENST00000295824.9	-	1	646	c.485C>A	c.(484-486)gCt>gAt	p.A162D	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	162							calcium ion binding (GO:0005509)	p.A162D(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CATAACGAAAGCAGGCTTTCC	0.498																																					p.A162D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485A	3						.						99.0	103.0	102.0					3																	19975026		2203	4300	6503	19950030	SO:0001583	missense	151651	exon1			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.485C>A	3.37:g.19975026G>T	ENSP00000295824:p.Ala162Asp	Somatic		Capture	Illumina HiSeq	Phase_I	19950030	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285365	0.23478	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.24151	1.87;2.16	3.73	-0.812	0.10853	.	.	.	.	.	T	0.17874	0.0429	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.23716	0.048	T	0.30909	-0.9962	8	.	.	.	0.3731	6.8039	0.23766	0.5585:0.0:0.4415:0.0	.	162	Q8N7U6	EFHB_HUMAN	D	162	ENSP00000295824:A162D;ENSP00000373908:A162D	.	A	-	2	0	EFHB	19950030	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.033000	0.13754	-0.165000	0.10908	-0.219000	0.12488	GCT		0.498	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
KAT2B	8850	broad.mit.edu	37	3	20156432	20156432	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:20156432G>A	ENST00000263754.4	+	7	1557	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	368					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.D368N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTGGGATCAGGATTTTCTCTC	0.408																																					p.D368N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102A	3						.						88.0	92.0	90.0					3																	20156432		2203	4300	6503	20131436	SO:0001583	missense	8850	exon7			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1102G>A	3.37:g.20156432G>A	ENSP00000263754:p.Asp368Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20131436	NM_003884	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676535	0.47886	.	.	ENSG00000114166	ENST00000263754	T	0.21543	2.0	5.08	5.08	0.68730	.	0.139487	0.64402	D	0.000005	T	0.17746	0.0426	L	0.28274	0.84	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.04752	-1.0929	10	0.24483	T	0.36	-22.3204	18.8338	0.92153	0.0:0.0:1.0:0.0	.	368	Q92831	KAT2B_HUMAN	N	368	ENSP00000263754:D368N	ENSP00000263754:D368N	D	+	1	0	KAT2B	20131436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.745000	0.85046	2.518000	0.84900	0.448000	0.29417	GAT		0.408	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
KAT2B	8850	broad.mit.edu	37	3	20181824	20181824	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:20181824G>A	ENST00000263754.4	+	13	2427	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	658					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E658K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCCGTACACAGAATTTTCTGT	0.418																																					p.E658K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1972A	3						.						78.0	77.0	77.0					3																	20181824		2203	4300	6503	20156828	SO:0001583	missense	8850	exon13			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1972G>A	3.37:g.20181824G>A	ENSP00000263754:p.Glu658Lys	Somatic		Capture	Illumina HiSeq	Phase_I	20156828	NM_003884	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141972	0.77775	.	.	ENSG00000114166	ENST00000263754	T	0.22539	1.95	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.72118	2.19	0.80722	D	1	D	0.61080	0.989	P	0.56612	0.802	T	0.16217	-1.0410	10	0.45353	T	0.12	-25.5988	19.558	0.95361	0.0:0.0:1.0:0.0	.	658	Q92831	KAT2B_HUMAN	K	658	ENSP00000263754:E658K	ENSP00000263754:E658K	E	+	1	0	KAT2B	20156828	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.792000	0.99085	2.697000	0.92050	0.655000	0.94253	GAA		0.418	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
KAT2B	8850	broad.mit.edu	37	3	20187848	20187848	+	Missense_Mutation	SNP	G	G	A	rs200681006		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:20187848G>A	ENST00000263754.4	+	14	2500	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	682					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R682Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GCACAAATTCGAAAAGTTTAC	0.348																																					p.R682Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2045A	3						.						126.0	133.0	131.0					3																	20187848		2203	4300	6503	20162852	SO:0001583	missense	8850	exon14			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2045G>A	3.37:g.20187848G>A	ENSP00000263754:p.Arg682Gln	Somatic		Capture	Illumina HiSeq	Phase_I	20162852	NM_003884	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974378	0.53720	.	.	ENSG00000114166	ENST00000263754	T	0.20463	2.07	5.67	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	N	0.25201	0.72	0.80722	D	1	B	0.21905	0.062	B	0.17098	0.017	T	0.06250	-1.0837	10	0.19147	T	0.46	-4.4628	14.9304	0.70911	0.0689:0.0:0.9311:0.0	.	682	Q92831	KAT2B_HUMAN	Q	682	ENSP00000263754:R682Q	ENSP00000263754:R682Q	R	+	2	0	KAT2B	20162852	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	1.542000	0.49330	0.655000	0.94253	CGA		0.348	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
NR1D2	9975	broad.mit.edu	37	3	24009322	24009322	+	Missense_Mutation	SNP	G	G	A	rs78292562	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:24009322G>A	ENST00000312521.4	+	7	1670	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	451	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A451T(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGTACGGTTCGCATCATTATT	0.333													G|||	12	0.00239617	0.0	0.0	5008	,	,		18217	0.0119		0.0	False		,,,				2504	0.0				p.A451T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351A	3						.						80.0	80.0	80.0					3																	24009322		2203	4300	6503	23984326	SO:0001583	missense	9975	exon7			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1351G>A	3.37:g.24009322G>A	ENSP00000310006:p.Ala451Thr	Somatic		Capture	Illumina HiSeq	Phase_I	23984326	NM_005126	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	G	17.40	3.378901	0.61735	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97303	-4.33	5.88	5.88	0.94601	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.197628	0.53938	D	0.000057	D	0.96975	0.9012	M	0.83692	2.655	0.52501	D	0.999959	D	0.76494	0.999	D	0.65010	0.931	D	0.94070	0.7334	10	0.48119	T	0.1	.	20.2068	0.98280	0.0:0.0:1.0:0.0	.	451	Q14995	NR1D2_HUMAN	T	451	ENSP00000310006:A451T	ENSP00000310006:A451T	A	+	1	0	NR1D2	23984326	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	5.512000	0.67030	2.768000	0.95171	0.655000	0.94253	GCA		0.333	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3		
OXSM	54995	broad.mit.edu	37	3	25833263	25833263	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:25833263C>T	ENST00000280701.3	+	2	851	c.752C>T	c.(751-753)gCc>gTc	p.A251V	OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	251					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.A251V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTTTCCAGAGCCCGGGCTCTG	0.478																																					p.A251V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	3						.						88.0	90.0	89.0					3																	25833263		2203	4300	6503	25808267	SO:0001583	missense	54995	exon2			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.752C>T	3.37:g.25833263C>T	ENSP00000280701:p.Ala251Val	Somatic		Capture	Illumina HiSeq	Phase_I	25808267	NM_017897		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045986	0.75846	.	.	ENSG00000151093	ENST00000280701	.	.	.	6.16	5.29	0.74685	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.146393	0.64402	N	0.000009	T	0.59362	0.2188	M	0.80847	2.515	0.80722	D	1	P	0.45348	0.856	B	0.38378	0.272	T	0.63888	-0.6535	9	0.33940	T	0.23	-9.6688	15.682	0.77376	0.0:0.9347:0.0:0.0653	.	251	Q9NWU1	OXSM_HUMAN	V	251	.	ENSP00000280701:A251V	A	+	2	0	OXSM	25808267	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.062000	0.71155	1.626000	0.50381	0.650000	0.86243	GCC		0.478	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
GLB1	2720	broad.mit.edu	37	3	33099691	33099691	+	Missense_Mutation	SNP	C	C	T	rs111840209	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:33099691C>T	ENST00000399402.3	-	6	664	c.533G>A	c.(532-534)cGc>cAc	p.R178H	GLB1_ENST00000445488.2_Missense_Mutation_p.R256H|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.R208H	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	208					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.R208H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CAGATGGTGGCGAAAGCGCTT	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		18488	0.0		0.003	False		,,,				2504	0.0				p.R208H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	3						.	C	HIS/ARG,HIS/ARG,	0,3736		0,0,1868	40.0	43.0	42.0		623,533,	-8.3	0.0	3	dbSNP_132	42	8,8204		0,8,4098	yes	missense,missense,intron	GLB1	NM_000404.2,NM_001079811.1,NM_001135602.1	29,29,	0,8,5966	TT,TC,CC		0.0974,0.0,0.067	benign,benign,	208/678,178/648,	33099691	8,11940	1868	4106	5974	33074695	SO:0001583	missense	2720	exon6			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.533G>A	3.37:g.33099691C>T	ENSP00000382333:p.Arg178His	Somatic		Capture	Illumina HiSeq	Phase_I	33074695	NM_000404	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	8.067	0.769482	0.15983	0.0	9.74E-4	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95	5.57	-8.29	0.01009	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.275466	0.40064	N	0.001193	D	0.95271	0.8466	M	0.74258	2.255	0.41518	D	0.988383	B;B;P	0.39759	0.079;0.079;0.687	B;B;B	0.33454	0.068;0.068;0.164	D	0.86773	0.1974	10	0.39692	T	0.17	-1.0692	12.4106	0.55466	0.0724:0.4321:0.0:0.4954	.	208;208;256	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	H	178;208;256;49;77	ENSP00000382333:R178H;ENSP00000306920:R208H;ENSP00000393377:R256H;ENSP00000411813:R49H;ENSP00000411769:R77H	ENSP00000306920:R208H	R	-	2	0	GLB1	33074695	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.418000	0.07080	-2.125000	0.00821	-0.797000	0.03246	CGC		0.493	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404	
PDCD6IP	10015	broad.mit.edu	37	3	33879764	33879764	+	Missense_Mutation	SNP	G	G	A	rs199990824	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:33879764G>A	ENST00000307296.3	+	9	1503	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.D381N			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	376	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.D376N(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAGGAAAGCCGATTTGGTTAA	0.398													G|||	6	0.00119808	0.0	0.0	5008	,	,		16221	0.005		0.001	False		,,,				2504	0.0				p.D381N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1141A	3						.	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	80.0	79.0	80.0		1141,1126	4.9	1.0	3		80	0,8600		0,0,4300	yes	missense,missense	PDCD6IP	NM_001162429.1,NM_013374.4	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	381/874,376/869	33879764	1,13005	2203	4300	6503	33854768	SO:0001583	missense	10015	exon9			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1126G>A	3.37:g.33879764G>A	ENSP00000307387:p.Asp376Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33854768	NM_001162429	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.9	4.580222	0.86645	2.27E-4	0.0	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.17370	2.28;2.28	4.92	4.92	0.64577	BRO1 domain (2);	0.197700	0.51477	D	0.000083	T	0.19127	0.0459	L	0.45581	1.43	0.80722	D	1	B;B;B	0.23735	0.09;0.007;0.017	B;B;B	0.17433	0.018;0.012;0.007	T	0.02444	-1.1158	10	0.45353	T	0.12	-17.7205	18.1209	0.89571	0.0:0.0:1.0:0.0	.	157;381;376	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	N	376;381	ENSP00000307387:D376N;ENSP00000411825:D381N	ENSP00000307387:D376N	D	+	1	0	PDCD6IP	33854768	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	9.864000	0.99589	2.281000	0.76405	0.585000	0.79938	GAT		0.398	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
STAC	6769	broad.mit.edu	37	3	36547293	36547293	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:36547293T>G	ENST00000273183.3	+	8	1187	c.887T>G	c.(886-888)tTt>tGt	p.F296C	STAC_ENST00000457375.2_Missense_Mutation_p.F235C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	296	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.F296C(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTGTACAAATTTGTACCACAG	0.313																																					p.F296C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T887G	3						.						54.0	58.0	57.0					3																	36547293		2202	4299	6501	36522297	SO:0001583	missense	6769	exon8			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.887T>G	3.37:g.36547293T>G	ENSP00000273183:p.Phe296Cys	Somatic		Capture	Illumina HiSeq	Phase_I	36522297	NM_003149	B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789968	0.70337	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.61274	0.12;0.12;0.12	5.48	5.48	0.80851	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.048295	0.85682	D	0.000000	T	0.77136	0.4086	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80830	-0.1207	10	0.87932	D	0	.	13.4134	0.60956	0.0:0.0:0.0:1.0	.	235;296	E9PEA7;Q99469	.;STAC_HUMAN	C	296;235;228;224	ENSP00000273183:F296C;ENSP00000393713:F235C;ENSP00000398403:F224C	ENSP00000273183:F296C	F	+	2	0	STAC	36522297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.037000	0.64170	2.218000	0.71995	0.528000	0.53228	TTT		0.313	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
LRRFIP2	9209	broad.mit.edu	37	3	37150132	37150132	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:37150132C>T	ENST00000336686.4	-	12	733	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R130Q|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.R218Q|LRRFIP2_ENST00000440230.1_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	218	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.R218Q(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTTACAGTTCGAGGACCATA	0.353																																					p.R218Q												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.G653A	3						.						129.0	119.0	122.0					3																	37150132		2203	4300	6503	37125136	SO:0001583	missense	9209	exon13			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.653G>A	3.37:g.37150132C>T	ENSP00000338727:p.Arg218Gln	Somatic		Capture	Illumina HiSeq	Phase_I	37125136	NM_006309	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658828	0.47467	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.52057	0.82;0.82;0.68	4.98	4.11	0.48088	.	0.237348	0.34178	N	0.004187	T	0.28267	0.0698	N	0.08118	0	0.32814	D	0.50189	B;B	0.20052	0.035;0.041	B;B	0.15870	0.014;0.003	T	0.30822	-0.9965	10	0.44086	T	0.13	-1.5035	13.0741	0.59077	0.0:0.9222:0.0:0.0778	.	130;218	A8MXR0;Q9Y608	.;LRRF2_HUMAN	Q	218;218;130	ENSP00000392217:R218Q;ENSP00000338727:R218Q;ENSP00000379705:R130Q	ENSP00000338727:R218Q	R	-	2	0	LRRFIP2	37125136	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.105000	0.41825	1.344000	0.45657	-0.136000	0.14681	CGA		0.353	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
GOLGA4	2803	broad.mit.edu	37	3	37367985	37367985	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:37367985G>T	ENST00000361924.2	+	14	4982	c.4608G>T	c.(4606-4608)caG>caT	p.Q1536H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1558H|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1536	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q1536H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATTACCCAGAAAACTATTG	0.313																																					p.Q1558H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4674T	3						.						63.0	71.0	68.0					3																	37367985		2200	4290	6490	37342989	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4608G>T	3.37:g.37367985G>T	ENSP00000354486:p.Gln1536His	Somatic		Capture	Illumina HiSeq	Phase_I	37342989	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784235	0.16189	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25414	1.81;1.8;1.81	5.44	5.44	0.79542	.	0.238696	0.21920	N	0.067161	T	0.45337	0.1337	M	0.72118	2.19	0.34153	D	0.66771	D;P;P;B	0.53151	0.958;0.911;0.911;0.013	P;P;P;B	0.53313	0.723;0.723;0.723;0.007	T	0.58115	-0.7693	10	0.52906	T	0.07	.	19.2623	0.93973	0.0:0.0:1.0:0.0	.	1536;1536;1558;1536	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	H	1536;1558;1407	ENSP00000354486:Q1536H;ENSP00000349305:Q1558H;ENSP00000405842:Q1407H	ENSP00000349305:Q1558H	Q	+	3	2	GOLGA4	37342989	1.000000	0.71417	0.993000	0.49108	0.206000	0.24218	2.813000	0.48002	2.550000	0.86006	0.462000	0.41574	CAG		0.313	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
ITGA9	3680	broad.mit.edu	37	3	37792013	37792013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:37792013C>T	ENST00000264741.5	+	23	2750	c.2494C>T	c.(2494-2496)Cga>Tga	p.R832*	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	832					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R832*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTCCCTAATCGACTCTCATC	0.488																																					p.R832X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2494T	3						.						194.0	170.0	178.0					3																	37792013		2203	4300	6503	37767017	SO:0001587	stop_gained	3680	exon23			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2494C>T	3.37:g.37792013C>T	ENSP00000264741:p.Arg832*	Somatic		Capture	Illumina HiSeq	Phase_I	37767017	NM_002207	Q14638	Nonsense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	42	9.498764	0.99187	.	.	ENSG00000144668	ENST00000264741	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	18.0056	0.89208	0.0:1.0:0.0:0.0	.	.	.	.	X	832	.	ENSP00000264741:R832X	R	+	1	2	ITGA9	37767017	1.000000	0.71417	0.551000	0.28230	0.683000	0.39861	4.712000	0.61888	2.616000	0.88540	0.561000	0.74099	CGA		0.488	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
SLC22A13	9390	broad.mit.edu	37	3	38315785	38315785	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38315785A>C	ENST00000311856.4	+	2	450	c.401A>C	c.(400-402)aAg>aCg	p.K134T	SLC22A13_ENST00000450935.2_Missense_Mutation_p.K93T	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	134					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.K134T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGTGATCGGAAGCACCTGAAG	0.582																																					p.K134T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A401C	3						.						191.0	167.0	175.0					3																	38315785		2203	4300	6503	38290789	SO:0001583	missense	9390	exon2			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.401A>C	3.37:g.38315785A>C	ENSP00000310241:p.Lys134Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38290789	NM_004256	B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756255	0.49362	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.65549	-0.16;0.7	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.308682	0.39687	N	0.001283	T	0.66771	0.2823	M	0.69523	2.12	0.31999	N	0.603596	P;P	0.41188	0.696;0.741	B;P	0.48873	0.358;0.593	T	0.73196	-0.4059	10	0.37606	T	0.19	.	8.6792	0.34198	0.9135:0.0:0.0865:0.0	.	134;134	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	T	134;93	ENSP00000310241:K134T;ENSP00000406929:K93T	ENSP00000310241:K134T	K	+	2	0	SLC22A13	38290789	0.957000	0.32711	0.093000	0.20910	0.307000	0.27823	2.136000	0.42121	2.043000	0.60533	0.528000	0.53228	AAG		0.582	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256	
SCN5A	6331	broad.mit.edu	37	3	38597992	38597992	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38597992G>T	ENST00000333535.4	-	25	4526	c.4377C>A	c.(4375-4377)ttC>ttA	p.F1459L	SCN5A_ENST00000451551.2_Missense_Mutation_p.F1405L|SCN5A_ENST00000449557.2_Missense_Mutation_p.F1405L|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000455624.2_Missense_Mutation_p.F1458L|SCN5A_ENST00000413689.1_Missense_Mutation_p.F1459L|SCN5A_ENST00000423572.2_Missense_Mutation_p.F1458L|SCN5A_ENST00000443581.1_Missense_Mutation_p.F1458L|SCN5A_ENST00000425664.1_Missense_Mutation_p.F1441L|SCN5A_ENST00000450102.2_Missense_Mutation_p.F1405L|SCN5A_ENST00000414099.2_Missense_Mutation_p.F1441L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1459					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F1459L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGGGTGAAGAAAGACCCAA	0.448																																					p.F1441L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4323A	3						.						87.0	87.0	87.0					3																	38597992		2054	4256	6310	38572996	SO:0001583	missense	6331	exon24			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4377C>A	3.37:g.38597992G>T	ENSP00000328968:p.Phe1459Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38572996	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523909	0.64747	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	4.33	3.43	0.39272	Ion transport (1);	0.166759	0.56097	D	0.000022	D	0.99333	0.9766	H	0.96301	3.8	0.45284	D	0.998285	D;D;B;D;D;P;P	0.89917	1.0;0.994;0.391;0.999;0.994;0.487;0.847	D;D;P;D;P;P;B	0.85130	0.996;0.991;0.45;0.997;0.903;0.569;0.373	D	0.98206	1.0470	10	0.87932	D	0	.	12.7359	0.57222	0.0814:0.0:0.9186:0.0	.	1405;1458;1441;1441;1459;1458;1459	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	L	1441;1458;1459;1405;1458;1441;1459;1458;1405;1405	ENSP00000398962:F1441L;ENSP00000398266:F1458L;ENSP00000410257:F1459L;ENSP00000388797:F1405L;ENSP00000397915:F1458L;ENSP00000416634:F1441L;ENSP00000328968:F1459L;ENSP00000399524:F1458L;ENSP00000403355:F1405L;ENSP00000413996:F1405L	ENSP00000328968:F1459L	F	-	3	2	SCN5A	38572996	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.978000	0.56881	2.260000	0.74910	0.650000	0.86243	TTC		0.448	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38601781	38601781	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38601781C>T	ENST00000333535.4	-	23	4251	c.4102G>A	c.(4102-4104)Gag>Aag	p.E1368K	SCN5A_ENST00000451551.2_Missense_Mutation_p.E1314K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1314K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1367K|SCN5A_ENST00000413689.1_Missense_Mutation_p.E1368K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1367K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1367K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1368K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1314K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1368K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1368					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.E1368K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGTCTCCCTCTGTCTGGTTG	0.507																																					p.E1368K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4102A	3						.						117.0	115.0	116.0					3																	38601781		2203	4300	6503	38576785	SO:0001583	missense	6331	exon23			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4102G>A	3.37:g.38601781C>T	ENSP00000328968:p.Glu1368Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38576785	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927832	0.34002	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96011	-3.76;-3.82;-3.8;-3.82;-3.82;-3.76;-3.82;-3.88;-3.82;-3.83	4.15	2.27	0.28462	Ion transport (1);	0.275857	0.29515	N	0.011939	D	0.91858	0.7423	N	0.10629	0.01	0.39447	D	0.967335	P;D;P;P;P;P;P	0.65815	0.888;0.995;0.917;0.933;0.669;0.887;0.618	P;D;P;P;B;P;B	0.67725	0.707;0.953;0.771;0.853;0.304;0.596;0.202	D	0.86612	0.1873	10	0.13108	T	0.6	.	8.0071	0.30332	0.0:0.6074:0.3103:0.0823	.	1314;1367;1368;1368;1368;1367;1368	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	K	1368;1367;1368;1314;1367;1368;1368;1367;1314;1314	ENSP00000398962:E1368K;ENSP00000398266:E1367K;ENSP00000410257:E1368K;ENSP00000388797:E1314K;ENSP00000397915:E1367K;ENSP00000416634:E1368K;ENSP00000328968:E1368K;ENSP00000399524:E1367K;ENSP00000403355:E1314K;ENSP00000413996:E1314K	ENSP00000328968:E1368K	E	-	1	0	SCN5A	38576785	0.000000	0.05858	0.533000	0.28001	0.760000	0.43138	0.305000	0.19254	0.471000	0.27319	-0.175000	0.13238	GAG		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38616871	38616871	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38616871G>A	ENST00000333535.4	-	20	3732	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1141C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1141C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1194C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1195C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1194C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1194C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1195C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1141C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1195C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1195					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R1195C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGGTCTTGCGCAACCGCCAC	0.612																																					p.R1195C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3583T	3						.						35.0	38.0	37.0					3																	38616871		2203	4300	6503	38591875	SO:0001583	missense	6331	exon20			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3583C>T	3.37:g.38616871G>A	ENSP00000328968:p.Arg1195Cys	Somatic		Capture	Illumina HiSeq	Phase_I	38591875	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541782	0.65198	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	4.31	4.31	0.51392	Sodium ion transport-associated (1);	0.105565	0.64402	D	0.000008	D	0.98754	0.9581	M	0.91717	3.235	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.938;0.979;0.988;0.999;0.979;0.95	D	0.98951	1.0794	10	0.87932	D	0	.	11.2077	0.48780	0.0:0.0:0.6931:0.3069	.	1141;1194;1195;1195;1195;1194;1195	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	1195;1194;1195;1141;1194;1195;1195;1194;1141;1141	ENSP00000398962:R1195C;ENSP00000398266:R1194C;ENSP00000410257:R1195C;ENSP00000388797:R1141C;ENSP00000397915:R1194C;ENSP00000416634:R1195C;ENSP00000328968:R1195C;ENSP00000399524:R1194C;ENSP00000403355:R1141C;ENSP00000413996:R1141C	ENSP00000328968:R1195C	R	-	1	0	SCN5A	38591875	0.884000	0.30299	1.000000	0.80357	0.995000	0.86356	1.024000	0.30077	2.413000	0.81919	0.655000	0.94253	CGC		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38622443	38622443	+	Silent	SNP	C	C	T	rs371686822		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38622443C>T	ENST00000333535.4	-	17	3356	c.3207G>A	c.(3205-3207)acG>acA	p.T1069T	SCN5A_ENST00000451551.2_Silent_p.T1069T|SCN5A_ENST00000449557.2_Silent_p.T1069T|SCN5A_ENST00000455624.2_Silent_p.T1069T|SCN5A_ENST00000413689.1_Silent_p.T1069T|SCN5A_ENST00000423572.2_Silent_p.T1069T|SCN5A_ENST00000443581.1_Silent_p.T1069T|SCN5A_ENST00000425664.1_Silent_p.T1069T|SCN5A_ENST00000450102.2_Silent_p.T1069T|SCN5A_ENST00000414099.2_Silent_p.T1069T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1069			T -> M (in LQT3). {ECO:0000269|PubMed:15840476}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTCCTCCTCCGTGCCCAGGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17338	0.0		0.0	False		,,,				2504	0.001				p.T1069T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3207A	3						.	C	,,,,,	1,4303		0,1,2151	37.0	39.0	38.0		3207,3207,3207,3207,3207,3207	-10.2	0.0	3		38	1,8511		0,1,4255	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,2,6406	TT,TC,CC		0.0117,0.0232,0.0156	,,,,,	1069/2016,1069/2017,1069/1999,1069/1984,1069/1963,1069/2017	38622443	2,12814	2152	4256	6408	38597447	SO:0001819	synonymous_variant	6331	exon17			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3207G>A	3.37:g.38622443C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38597447	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN10A	6336	broad.mit.edu	37	3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A	rs370779258		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACATAGCTCCGATAGGCCTTT	0.488																																					p.R1863W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5587T	3						.	G	TRP/ARG	0,4406		0,0,2203	159.0	137.0	145.0		5587	2.0	1.0	3		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN10A	NM_006514.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1863/1957	38739124	1,13005	2203	4300	6503	38714128	SO:0001583	missense	6336	exon27			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5587C>T	3.37:g.38739124G>A	ENSP00000390600:p.Arg1863Trp	Somatic		Capture	Illumina HiSeq	Phase_I	38714128	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835830	0.50951	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.97480	-4.4	5.09	1.97	0.26223	.	0.000000	0.64402	D	0.000001	D	0.97679	0.9239	M	0.62088	1.915	0.42936	D	0.994332	D	0.89917	1.0	D	0.91635	0.999	D	0.97791	1.0238	10	0.87932	D	0	.	13.7464	0.62879	0.0:0.0:0.4734:0.5266	.	1863	Q9Y5Y9	SCNAA_HUMAN	W	1863	ENSP00000390600:R1863W	ENSP00000390600:R1863W	R	-	1	2	SCN10A	38714128	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	1.142000	0.31540	0.678000	0.31325	-0.182000	0.12963	CGG		0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38739975	38739975	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38739975C>T	ENST00000449082.2	-	27	4735	c.4736G>A	c.(4735-4737)cGa>cAa	p.R1579Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1579					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1579Q(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCGGCCAATTCGGGCCAGGCG	0.512																																					p.R1579Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4736A	3						.						83.0	82.0	82.0					3																	38739975		2203	4300	6503	38714979	SO:0001583	missense	6336	exon27			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4736G>A	3.37:g.38739975C>T	ENSP00000390600:p.Arg1579Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38714979	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123712	0.94429	.	.	ENSG00000185313	ENST00000449082	D	0.98762	-5.12	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.99143	4.445	0.49798	D	0.999822	D	0.89917	1.0	D	0.70227	0.968	D	0.97697	1.0182	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1579	Q9Y5Y9	SCNAA_HUMAN	Q	1579	ENSP00000390600:R1579Q	ENSP00000390600:R1579Q	R	-	2	0	SCN10A	38714979	0.950000	0.32346	0.966000	0.40874	0.989000	0.77384	4.681000	0.61663	2.822000	0.97130	0.655000	0.94253	CGA		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN11A	11280	broad.mit.edu	37	3	38892010	38892010	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38892010T>G	ENST00000302328.3	-	25	4487	c.4289A>C	c.(4288-4290)aAt>aCt	p.N1430T	SCN11A_ENST00000456224.3_Missense_Mutation_p.N1392T|SCN11A_ENST00000444237.2_Missense_Mutation_p.N1430T|SCN11A_ENST00000450244.1_Missense_Mutation_p.N1430T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1430					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N1430T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCAAATAAATTCCAGCCATT	0.378																																					p.N1430T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4289C	3						.						100.0	98.0	99.0					3																	38892010		2203	4300	6503	38867014	SO:0001583	missense	11280	exon25			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4289A>C	3.37:g.38892010T>G	ENSP00000307599:p.Asn1430Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38867014	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577351	0.86645	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.94698	3.57	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97927	1.0318	10	0.87932	D	0	.	15.2213	0.73313	0.0:0.0:0.0:1.0	.	1430	Q9UI33	SCNBA_HUMAN	T	1430;1430;1392;1430	ENSP00000307599:N1430T;ENSP00000400945:N1430T;ENSP00000416757:N1392T;ENSP00000408028:N1430T	ENSP00000307599:N1430T	N	-	2	0	SCN11A	38867014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.061000	0.61500	0.528000	0.53228	AAT		0.378	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38913061	38913061	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:38913061C>A	ENST00000302328.3	-	21	3832	c.3634G>T	c.(3634-3636)Gac>Tac	p.D1212Y	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1174Y|SCN11A_ENST00000444237.2_Missense_Mutation_p.D1212Y|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1212Y	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1212					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1212Y(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATAACTGAGTCTGTTCCATTA	0.343																																					p.D1212Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3634T	3						.						76.0	71.0	73.0					3																	38913061		2203	4300	6503	38888065	SO:0001583	missense	11280	exon21			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3634G>T	3.37:g.38913061C>A	ENSP00000307599:p.Asp1212Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38888065	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545685	0.45280	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96774	-4.12;-4.12;-4.06;-4.0	4.85	0.857	0.19025	Ion transport (1);	0.478367	0.13592	U	0.376510	D	0.94069	0.8099	L	0.54965	1.715	0.09310	N	1	B	0.27192	0.171	B	0.36885	0.235	D	0.88849	0.3318	10	0.72032	D	0.01	.	5.2964	0.15754	0.0:0.4902:0.2739:0.2359	.	1212	Q9UI33	SCNBA_HUMAN	Y	1212;1212;1174;1212	ENSP00000307599:D1212Y;ENSP00000400945:D1212Y;ENSP00000416757:D1174Y;ENSP00000408028:D1212Y	ENSP00000307599:D1212Y	D	-	1	0	SCN11A	38888065	0.001000	0.12720	0.027000	0.17364	0.147000	0.21601	-0.295000	0.08298	0.095000	0.17434	-0.140000	0.14226	GAC		0.343	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
TTC21A	199223	broad.mit.edu	37	3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A	rs373627662		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:39159652C>A	ENST00000431162.2	+	7	943	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Missense_Mutation_p.S270Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270								p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458																																					p.S270Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C809A	3						.						127.0	123.0	124.0					3																	39159652		1935	4165	6100	39134656	SO:0001583	missense	199223	exon7			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.809C>A	3.37:g.39159652C>A	ENSP00000398211:p.Ser270Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	39134656	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846160	0.16963	.	.	ENSG00000168026	ENST00000301819;ENST00000431162	T;T	0.58940	0.3;0.3	4.77	0.696	0.18075	.	0.637751	0.13895	N	0.355340	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	5.2219	0.15373	0.1242:0.5492:0.2423:0.0843	.	270;270	Q8NDW8-7;Q8NDW8	.;TT21A_HUMAN	Y	270	ENSP00000301819:S270Y;ENSP00000398211:S270Y	ENSP00000301819:S270Y	S	+	2	0	TTC21A	39134656	0.000000	0.05858	0.055000	0.19348	0.027000	0.11550	0.005000	0.13129	-0.111000	0.12001	-1.150000	0.01838	TCT		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CSRNP1	64651	broad.mit.edu	37	3	39184948	39184948	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:39184948C>A	ENST00000273153.5	-	5	1545	c.1368G>T	c.(1366-1368)gaG>gaT	p.E456D	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E456D	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	456					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E456D(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGTTGGCATTCTCATCCAGGA	0.577																																					p.E456D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1368T	3						.						62.0	60.0	61.0					3																	39184948		2203	4300	6503	39159952	SO:0001583	missense	64651	exon5			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1368G>T	3.37:g.39184948C>A	ENSP00000273153:p.Glu456Asp	Somatic		Capture	Illumina HiSeq	Phase_I	39159952	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618435	0.46736	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.54675	0.56;0.56	4.52	-2.53	0.06326	.	0.205097	0.39083	N	0.001464	T	0.43942	0.1270	L	0.49350	1.555	0.42943	D	0.994353	D	0.54772	0.968	P	0.48166	0.569	T	0.41610	-0.9499	10	0.26408	T	0.33	-17.8651	7.6582	0.28388	0.1192:0.5263:0.0:0.3545	.	456	Q96S65	CSRN1_HUMAN	D	456;456;114	ENSP00000273153:E456D;ENSP00000422532:E456D	ENSP00000273153:E456D	E	-	3	2	CSRNP1	39159952	0.492000	0.26027	0.990000	0.47175	0.722000	0.41435	-0.359000	0.07632	-0.299000	0.08909	-0.238000	0.12139	GAG		0.577	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
CX3CR1	1524	broad.mit.edu	37	3	39307551	39307551	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:39307551G>A	ENST00000541347.1	-	2	689	c.450C>T	c.(448-450)agC>agT	p.S150S	CX3CR1_ENST00000542107.1_Silent_p.S150S|CX3CR1_ENST00000358309.3_Silent_p.S182S|CX3CR1_ENST00000399220.2_Silent_p.S150S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	150					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.S150S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGACGCCTAGGCTGATGGTGA	0.547																																					p.S182S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	3						.						81.0	85.0	84.0					3																	39307551		2076	4210	6286	39282555	SO:0001819	synonymous_variant	1524	exon2			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.450C>T	3.37:g.39307551G>A		Somatic		Capture	Illumina HiSeq	Phase_I	39282555	NM_001171174	A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	CCDS43069.1																																																																																				0.547	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
ENTPD3	956	broad.mit.edu	37	3	40464605	40464605	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:40464605C>T	ENST00000301825.3	+	8	1214	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.P366S|ENTPD3_ENST00000445129.1_Missense_Mutation_p.P366S|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	366					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.P366S(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GATTAAAGGGCCATTTGTGGT	0.403																																					p.P366S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1096T	3						.						96.0	105.0	102.0					3																	40464605		2203	4300	6503	40439609	SO:0001583	missense	956	exon8			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1096C>T	3.37:g.40464605C>T	ENSP00000301825:p.Pro366Ser	Somatic		Capture	Illumina HiSeq	Phase_I	40439609	NM_001248	B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	C	8.232	0.804992	0.16467	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.10192	2.9;2.9;2.9	5.0	-6.02	0.02192	.	0.788686	0.11871	N	0.521409	T	0.02494	0.0076	N	0.03224	-0.385	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.41805	-0.9488	10	0.09338	T	0.73	1.8661	1.3903	0.02249	0.4331:0.2462:0.0982:0.2225	.	366	O75355	ENTP3_HUMAN	S	366	ENSP00000301825:P366S;ENSP00000401565:P366S;ENSP00000404671:P366S	ENSP00000301825:P366S	P	+	1	0	ENTPD3	40439609	0.934000	0.31675	0.154000	0.22540	0.925000	0.55904	1.375000	0.34295	-0.804000	0.04410	-0.310000	0.09108	CCA		0.403	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248	
TCAIM	285343	broad.mit.edu	37	3	44437971	44437971	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:44437971A>G	ENST00000342649.4	+	7	1202	c.775A>G	c.(775-777)Aca>Gca	p.T259A	TCAIM_ENST00000417237.1_Missense_Mutation_p.T259A	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	259						mitochondrion (GO:0005739)		p.T259A(1)									GAATTTGGAAACACTTAAAAA	0.408																																					p.T259A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A775G	3						.						38.0	36.0	37.0					3																	44437971		2203	4300	6503	44412975	SO:0001583	missense	285343	exon7				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.775A>G	3.37:g.44437971A>G	ENSP00000341539:p.Thr259Ala	Somatic		Capture	Illumina HiSeq	Phase_I	44412975	NM_173826	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	A	5.596	0.294741	0.10567	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.40225	1.04;1.04	5.66	0.138	0.14793	.	0.578451	0.20050	N	0.100311	T	0.17280	0.0415	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26950	-1.0088	10	0.08837	T	0.75	.	7.0312	0.24969	0.566:0.1246:0.3094:0.0	.	259	Q8N3R3	CC023_HUMAN	A	259	ENSP00000402581:T259A;ENSP00000341539:T259A	ENSP00000341539:T259A	T	+	1	0	C3orf23	44412975	0.098000	0.21812	0.009000	0.14445	0.998000	0.95712	0.962000	0.29280	0.103000	0.17682	0.533000	0.62120	ACA		0.408	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
ZNF197	10168	broad.mit.edu	37	3	44684351	44684351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:44684351C>T	ENST00000396058.1	+	5	1896	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R577*|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R577*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGTTTTCATTCGAAGCAAAAG	0.398																																					p.R577X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C1729T	3						.						56.0	58.0	58.0					3																	44684351		2203	4300	6503	44659355	SO:0001587	stop_gained	10168	exon6			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1729C>T	3.37:g.44684351C>T	ENSP00000379370:p.Arg577*	Somatic		Capture	Illumina HiSeq	Phase_I	44659355	NM_006991	B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	32	5.186096	0.94885	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	3.57	1.6	0.23607	.	0.000000	0.30252	U	0.010042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.9368	0.47249	0.3398:0.6602:0.0:0.0	.	.	.	.	X	577	.	ENSP00000345809:R577X	R	+	1	2	ZNF197	44659355	0.000000	0.05858	0.992000	0.48379	0.893000	0.52053	-0.336000	0.07863	0.413000	0.25759	0.552000	0.68991	CGA		0.398	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
ZNF501	115560	broad.mit.edu	37	3	44776190	44776190	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:44776190C>T	ENST00000396048.2	+	3	714	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L93F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AAAAGCAATTCTTGTTCAGCA	0.378																																					p.L93F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C277T	3						.						78.0	91.0	86.0					3																	44776190		2196	4300	6496	44751194	SO:0001583	missense	115560	exon3			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.277C>T	3.37:g.44776190C>T	ENSP00000379363:p.Leu93Phe	Somatic		Capture	Illumina HiSeq	Phase_I	44751194	NM_145044	B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725418	0.48833	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.52057	0.68	3.07	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47414	0.1444	L	0.48260	1.515	0.09310	N	1	P;D	0.53462	0.951;0.96	P;P	0.48677	0.581;0.586	T	0.34875	-0.9811	9	0.66056	D	0.02	.	9.7542	0.40494	0.0:0.7875:0.2125:0.0	.	93;93	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	F	93	ENSP00000379363:L93F	ENSP00000330388:L93F	L	+	1	0	ZNF501	44751194	0.617000	0.27043	0.871000	0.34182	0.946000	0.59487	1.432000	0.34936	1.717000	0.51406	0.563000	0.77884	CTT		0.378	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044	
TGM4	7047	broad.mit.edu	37	3	44935101	44935101	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:44935101C>T	ENST00000296125.4	+	5	531	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	155					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R155C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGAGGACGAGCGCAAAGAGTA	0.512																																					p.R155C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	3						.						129.0	115.0	120.0					3																	44935101		2203	4300	6503	44910105	SO:0001583	missense	7047	exon5			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.463C>T	3.37:g.44935101C>T	ENSP00000296125:p.Arg155Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44910105	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189121	0.38707	.	.	ENSG00000163810	ENST00000296125	D	0.92149	-2.98	2.32	1.4	0.22301	.	0.000000	0.40818	U	0.001008	D	0.94512	0.8233	M	0.82716	2.605	0.24453	N	0.994479	D	0.89917	1.0	D	0.85130	0.997	D	0.86768	0.1971	10	0.62326	D	0.03	.	4.3572	0.11185	0.3743:0.4862:0.0:0.1395	.	155	P49221	TGM4_HUMAN	C	155	ENSP00000296125:R155C	ENSP00000296125:R155C	R	+	1	0	TGM4	44910105	0.717000	0.27966	0.000000	0.03702	0.013000	0.08279	1.857000	0.39399	0.246000	0.21394	0.467000	0.42956	CGC		0.512	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
FYCO1	79443	broad.mit.edu	37	3	45963312	45963312	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:45963312A>C	ENST00000296137.2	-	18	4587	c.4382T>G	c.(4381-4383)tTt>tGt	p.F1461C	FYCO1_ENST00000535325.1_Missense_Mutation_p.F1481C|FYCO1_ENST00000438446.1_Missense_Mutation_p.F132C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1461	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.F1461C(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAGTGATAAAATACCTTTTT	0.483																																					p.F1461C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4382G	3						.						78.0	72.0	74.0					3																	45963312		2203	4300	6503	45938316	SO:0001583	missense	79443	exon18			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.4382T>G	3.37:g.45963312A>C	ENSP00000296137:p.Phe1461Cys	Somatic		Capture	Illumina HiSeq	Phase_I	45938316	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.90|15.90	2.968973|2.968973	0.53614|0.53614	.|.	.|.	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000438446;ENST00000535325|ENST00000433878	T;T;T|T	0.45276|0.42513	0.9;0.9;0.9|0.97	5.53|5.53	4.35|4.35	0.52113|0.52113	GOLD (2);|.	0.334685|0.334685	0.31519|0.31519	N|N	0.007515|0.007515	T|T	0.40222|0.40222	0.1108|0.1108	L|L	0.50333|0.50333	1.59|1.59	0.27850|0.27850	N|N	0.940784|0.940784	P;P|.	0.52061|.	0.95;0.933|.	P;P|.	0.49752|.	0.621;0.471|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|8	0.72032|0.17369	D|T	0.01|0.5	-1.1645|-1.1645	10.6162|10.6162	0.45451|0.45451	0.8568:0.0:0.0:0.1432|0.8568:0.0:0.0:0.1432	.|.	1481;1461|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	C|V	1461;132;1481|250	ENSP00000296137:F1461C;ENSP00000398517:F132C;ENSP00000441178:F1481C|ENSP00000388136:F250V	ENSP00000296137:F1461C|ENSP00000388136:F250V	F|F	-|-	2|1	0|0	FYCO1|FYCO1	45938316|45938316	1.000000|1.000000	0.71417|0.71417	0.635000|0.635000	0.29338|0.29338	0.533000|0.533000	0.34776|0.34776	5.029000|5.029000	0.64121|0.64121	0.904000|0.904000	0.36572|0.36572	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
LTF	4057	broad.mit.edu	37	3	46501208	46501208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:46501208G>A	ENST00000231751.4	-	2	440	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	LTF_ENST00000426532.2_Missense_Mutation_p.R5C|LTF_ENST00000417439.1_Missense_Mutation_p.R49C	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	49	Bactericidal and antifungal activity.|Interaction with lipopolysaccharide.|Involved in glycosaminoglycan binding.|Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.			R -> C (in Ref. 14; AAH22347). {ECO:0000305}.	antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.R49C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GGAGGGCCACGCACTTTTCTC	0.552																																					p.R5C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C13T	3						.						150.0	135.0	140.0					3																	46501208		2203	4300	6503	46476212	SO:0001583	missense	4057	exon2				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.145C>T	3.37:g.46501208G>A	ENSP00000231751:p.Arg49Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46476212	NM_001199149	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665768	0.47677	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.83	-9.41	0.00613	.	1.632970	0.03543	N	0.224303	T	0.28896	0.0717	L	0.40543	1.245	0.09310	N	1	P;D;P	0.62365	0.875;0.991;0.875	P;P;P	0.48227	0.571;0.452;0.571	T	0.52230	-0.8603	10	0.62326	D	0.03	-15.8646	4.063	0.09847	0.0933:0.1268:0.4009:0.379	.	49;36;49	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	C	49;5;49;36;49;60;5	ENSP00000231751:R49C;ENSP00000405719:R5C;ENSP00000405546:R49C;ENSP00000397427:R36C;ENSP00000395234:R60C;ENSP00000400254:R5C	ENSP00000231751:R49C	R	-	1	0	LTF	46476212	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.093000	0.01353	-1.814000	0.01224	-1.313000	0.01306	CGT		0.552	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
ALS2CL	259173	broad.mit.edu	37	3	46723046	46723046	+	Silent	SNP	G	G	A	rs144964538		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:46723046G>A	ENST00000318962.4	-	12	1301	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	ALS2CL_ENST00000415953.1_Silent_p.F406F	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	406					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F406F(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGTAACAGTCGAACTTGTCCT	0.607																																					p.F406F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	3						.	G	,	3,4403	6.2+/-15.9	0,3,2200	131.0	115.0	121.0		1218,1218	-2.5	1.0	3	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ALS2CL	NM_001190707.1,NM_147129.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	406/954,406/954	46723046	3,13003	2203	4300	6503	46698050	SO:0001819	synonymous_variant	259173	exon12			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1218C>T	3.37:g.46723046G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46698050	NM_001190707	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	CCDS2743.1																																																																																				0.607	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129	
KIF9	64147	broad.mit.edu	37	3	47277619	47277619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:47277619C>A	ENST00000265529.3	-	20	2802	c.2122G>T	c.(2122-2124)Gag>Tag	p.E708*	KIF9_ENST00000444589.2_Nonsense_Mutation_p.E643*|KIF9_ENST00000352910.4_Missense_Mutation_p.M555I|KIF9_ENST00000452770.2_Nonsense_Mutation_p.E708*|KIF9_ENST00000335044.2_Nonsense_Mutation_p.E708*|KIF9-AS1_ENST00000429315.3_RNA			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	708					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.E708*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACAAAGGACTCATTGTACCAG	0.527																																					p.E708X	Colon(44;962 1147 15977 24541)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2122T	3						.						75.0	67.0	70.0					3																	47277619		2203	4300	6503	47252623	SO:0001587	stop_gained	64147	exon19			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.2122G>T	3.37:g.47277619C>A	ENSP00000265529:p.Glu708*	Somatic		Capture	Illumina HiSeq	Phase_I	47252623	NM_182902	Q86Z28|Q9H8A4	Nonsense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	44|44	11.112047|11.112047	0.99517|0.99517	.|.	.|.	ENSG00000088727|ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770|ENST00000352910	.|T	.|0.71934	.|-0.61	6.0|6.0	6.0|6.0	0.97389|0.97389	.|.	0.054084|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76821	.|0.4041	.|.	.|.	.|.	0.29752|0.29752	N|N	0.836224|0.836224	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72798	.|-0.4184	.|6	0.72032|0.39692	D|T;T	0.01|0.17;0.17	.|.	17.9972|17.9972	0.89187|0.89187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	708;708;643;708|555	.|ENSP00000292334:M555I	ENSP00000265529:E708X|ENSP00000292334:M555I;ENSP00000292334:M555I	E|M	-|-	1|3	0|0	KIF9|KIF9	47252623|47252623	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.978000|0.978000	0.69477|0.69477	5.799000|5.799000	0.69101|0.69101	2.856000|2.856000	0.98102|0.98102	0.651000|0.651000	0.88453|0.88453	GAG|ATG		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
QARS	5859	broad.mit.edu	37	3	49133507	49133507	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:49133507G>T	ENST00000306125.6	-	24	2620	c.2283C>A	c.(2281-2283)gtC>gtA	p.V761V	QRICH1_ENST00000424300.1_5'Flank|QRICH1_ENST00000395443.2_5'Flank|QARS_ENST00000414533.1_Silent_p.V750V|QRICH1_ENST00000357496.2_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	761					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.V761V(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTCGGTTAAAGACAAGCTGGA	0.567																																					p.V761V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2283A	3						.						93.0	75.0	81.0					3																	49133507		2203	4300	6503	49108511	SO:0001819	synonymous_variant	5859	exon24			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2283C>A	3.37:g.49133507G>T		Somatic		Capture	Illumina HiSeq	Phase_I	49108511	NM_005051	B4DWJ2	Silent	SNP	ENST00000306125.6	37	CCDS2788.1																																																																																				0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	
DAG1	1605	broad.mit.edu	37	3	49548246	49548246	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:49548246C>A	ENST00000539901.1	+	2	837	c.279C>A	c.(277-279)atC>atA	p.I93I	DAG1_ENST00000538711.1_Silent_p.I93I|DAG1_ENST00000541308.1_Silent_p.I93I|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000515359.2_Silent_p.I93I|DAG1_ENST00000545947.1_Silent_p.I93I|DAG1_ENST00000308775.2_Silent_p.I93I	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	93	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.I93I(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGGAGATATCATCAAGGTGA	0.443																																					p.I93I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279A	3						.						37.0	35.0	35.0					3																	49548246		2203	4300	6503	49523250	SO:0001819	synonymous_variant	1605	exon2			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.279C>A	3.37:g.49548246C>A		Somatic		Capture	Illumina HiSeq	Phase_I	49523250	NM_004393	A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	37	CCDS2799.1																																																																																				0.443	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
RNF123	63891	broad.mit.edu	37	3	49737660	49737660	+	Splice_Site	SNP	C	C	T	rs34379671	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:49737660C>T	ENST00000327697.6	+	13	1129	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	RNF123_ENST00000432042.1_Splice_Site_p.R183C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	329					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R329C(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTTGGTGCAGCGCAAGGTGTA	0.627													C|||	74	0.0147764	0.0461	0.0014	5008	,	,		20046	0.0079		0.0	False		,,,				2504	0.0041				p.R329C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C985T	3						.	C	CYS/ARG	178,4228	115.9+/-153.8	3,172,2028	92.0	69.0	77.0		985	1.3	1.0	3	dbSNP_126	77	4,8596	3.0+/-9.4	0,4,4296	yes	missense-near-splice	RNF123	NM_022064.2	180	3,176,6324	TT,TC,CC		0.0465,4.0399,1.3994	benign	329/1315	49737660	182,12824	2203	4300	6503	49712664	SO:0001630	splice_region_variant	63891	exon13			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.985-1C>T	3.37:g.49737660C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49712664	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	29	0.013278388278388278	24	0.04878048780487805	1	0.0027624309392265192	4	0.006993006993006993	0	0.0	C	15.00	2.703249	0.48412	0.040399	4.65E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75367	-0.63;-0.93	5.58	1.31	0.21738	.	0.394071	0.26696	N	0.022978	T	0.08537	0.0212	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02064	-1.1220	9	.	.	.	-9.3046	2.7795	0.05357	0.2023:0.3722:0.0:0.4255	rs34379671	329	Q5XPI4	RN123_HUMAN	C	329;329;183	ENSP00000328287:R329C;ENSP00000392443:R183C	.	R	+	1	0	RNF123	49712664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.469000	0.45110	0.737000	0.32582	0.655000	0.94253	CGC		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	Missense_Mutation
IP6K1	9807	broad.mit.edu	37	3	49775723	49775723	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:49775723C>T	ENST00000321599.4	-	3	657	c.356G>A	c.(355-357)cGc>cAc	p.R119H	IP6K1_ENST00000468463.1_Missense_Mutation_p.R119H|IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000460540.1_5'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	119					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R119H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CAGGCTCCGGCGGGAGTGTTT	0.547																																					p.R119H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	3						.						133.0	109.0	117.0					3																	49775723		2203	4300	6503	49750727	SO:0001583	missense	9807	exon3			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.356G>A	3.37:g.49775723C>T	ENSP00000323780:p.Arg119His	Somatic		Capture	Illumina HiSeq	Phase_I	49750727	NM_153273	A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496636	0.96355	.	.	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.52526	0.66;0.66	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57846	0.749;0.828	T	0.61850	-0.6978	10	0.51188	T	0.08	-24.6383	16.6109	0.84882	0.0:0.8701:0.1299:0.0	.	119;119	C9JNA8;Q92551	.;IP6K1_HUMAN	H	119	ENSP00000323780:R119H;ENSP00000420467:R119H	ENSP00000323780:R119H	R	-	2	0	IP6K1	49750727	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.587000	0.67510	2.814000	0.96858	0.563000	0.77884	CGC		0.547	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273	
DOCK3	1795	broad.mit.edu	37	3	51251579	51251579	+	Missense_Mutation	SNP	C	C	T	rs587776362		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:51251579C>T	ENST00000266037.9	+	14	1176	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	385					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R385C(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAGCTTCTTCGTGGAGACAT	0.383																																					p.S371L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1112T	3						.						96.0	91.0	93.0					3																	51251579		1866	4123	5989	51226619	SO:0001583	missense	1795	exon14			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1153C>T	3.37:g.51251579C>T	ENSP00000266037:p.Arg385Cys	Somatic		Capture	Illumina HiSeq	Phase_I	51226619	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476899	0.84640	.	.	ENSG00000088538	ENST00000266037	T	0.05382	3.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	M	0.68952	2.095	0.80722	D	1	D	0.59767	0.986	P	0.51701	0.677	T	0.00303	-1.1833	10	0.41790	T	0.15	.	19.4352	0.94788	0.0:1.0:0.0:0.0	.	385	Q8IZD9	DOCK3_HUMAN	C	385	ENSP00000266037:R385C	ENSP00000266037:R385C	R	+	1	0	DOCK3	51226619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.176000	0.42500	2.668000	0.90789	0.655000	0.94253	CGT		0.383	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
ALAS1	211	broad.mit.edu	37	3	52237955	52237955	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52237955G>T	ENST00000394965.2	+	5	864	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ALAS1_ENST00000484952.1_Missense_Mutation_p.K168N|ALAS1_ENST00000310271.2_Missense_Mutation_p.K168N|ALAS1_ENST00000469224.1_Missense_Mutation_p.K168N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	168					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.K168N(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GACTGCTGAAGAACTTCCAGG	0.443																																					p.K168N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G504T	3						.						129.0	119.0	122.0					3																	52237955		2203	4300	6503	52212995	SO:0001583	missense	211	exon5			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.504G>T	3.37:g.52237955G>T	ENSP00000378416:p.Lys168Asn	Somatic		Capture	Illumina HiSeq	Phase_I	52212995	NM_000688		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857197	0.51376	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.9	4.07	0.47477	.	0.311946	0.34002	N	0.004353	D	0.95417	0.8512	L	0.54323	1.7	0.44345	D	0.997231	B;B	0.14805	0.011;0.003	B;B	0.18561	0.022;0.013	D	0.91817	0.5464	10	0.22706	T	0.39	-28.3621	11.7527	0.51857	0.1462:0.0:0.8538:0.0	.	185;168	B4DVA0;P13196	.;HEM1_HUMAN	N	168	ENSP00000417719:K168N;ENSP00000378416:K168N;ENSP00000309259:K168N;ENSP00000418779:K168N	ENSP00000309259:K168N	K	+	3	2	ALAS1	52212995	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.060000	0.49955	0.784000	0.33661	0.655000	0.94253	AAG		0.443	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
DNAH1	25981	broad.mit.edu	37	3	52407024	52407024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52407024C>T	ENST00000420323.2	+	44	7201	c.6940C>T	c.(6940-6942)Cgc>Tgc	p.R2314C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2314	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2314C(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGAGCTGTTGCGCCAGTGGAT	0.622																																					p.R2314C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6940T	3						.						52.0	58.0	56.0					3																	52407024		2068	4196	6264	52382064	SO:0001583	missense	25981	exon44			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6940C>T	3.37:g.52407024C>T	ENSP00000401514:p.Arg2314Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52382064	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722348	0.89298	.	.	ENSG00000114841	ENST00000420323	T	0.51574	0.7	4.5	4.5	0.54988	.	0.000000	0.49305	D	0.000142	T	0.80829	0.4698	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88620	0.3162	10	0.87932	D	0	.	17.7428	0.88411	0.0:1.0:0.0:0.0	.	2314	C9JXH6	.	C	2314	ENSP00000401514:R2314C	ENSP00000401514:R2314C	R	+	1	0	DNAH1	52382064	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.013000	0.49582	2.501000	0.84356	0.655000	0.94253	CGC		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52417403	52417403	+	Splice_Site	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52417403T>C	ENST00000420323.2	+	51	8204	c.7943T>C	c.(7942-7944)aTc>aCc	p.I2648T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2648	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2648T(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCCCAGATCAAGAACGAA	0.517																																					p.I2648T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7943C	3						.						67.0	64.0	65.0					3																	52417403		1969	4159	6128	52392443	SO:0001630	splice_region_variant	25981	exon51			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7942-1T>C	3.37:g.52417403T>C		Somatic		Capture	Illumina HiSeq	Phase_I	52392443	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377755	0.82682	.	.	ENSG00000114841	ENST00000420323	T	0.46451	0.87	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000055	T	0.78233	0.4251	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87240	0.2266	10	0.87932	D	0	.	14.2682	0.66135	0.0:0.0:0.0:1.0	.	2648	C9JXH6	.	T	2648	ENSP00000401514:I2648T	ENSP00000401514:I2648T	I	+	2	0	DNAH1	52392443	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.596000	0.82721	1.955000	0.56771	0.533000	0.62120	ATC		0.517	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation
NISCH	11188	broad.mit.edu	37	3	52521683	52521683	+	Silent	SNP	C	C	T	rs537116472		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52521683C>T	ENST00000479054.1	+	17	2247	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	NISCH_ENST00000345716.4_Silent_p.F725F			Q9Y2I1	NISCH_HUMAN	nischarin	725	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.F725F(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCCGCCAGTTCGCCGCCTGCC	0.647													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19438	0.0		0.0	False		,,,				2504	0.0				p.F725F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2175T	3						.						89.0	73.0	78.0					3																	52521683		2203	4300	6503	52496723	SO:0001819	synonymous_variant	11188	exon16			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2175C>T	3.37:g.52521683C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52496723	NM_007184	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1																																																																																				0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
STAB1	23166	broad.mit.edu	37	3	52535245	52535245	+	Missense_Mutation	SNP	G	G	A	rs140032996	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52535245G>A	ENST00000321725.6	+	2	218	c.142G>A	c.(142-144)Gcg>Acg	p.A48T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	48					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.A48T(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACCTCGTGCGCGGCCATCAA	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		18143	0.001		0.001	False		,,,				2504	0.0				p.A48T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142A	3						.						152.0	146.0	148.0					3																	52535245		2203	4300	6503	52510285	SO:0001583	missense	23166	exon2			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.142G>A	3.37:g.52535245G>A	ENSP00000312946:p.Ala48Thr	Somatic		Capture	Illumina HiSeq	Phase_I	52510285	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	13.46	2.243598	0.39697	.	.	ENSG00000010327	ENST00000321725	T	0.03272	3.99	4.35	2.56	0.30785	.	0.070698	0.56097	D	0.000036	T	0.04407	0.0121	L	0.35487	1.065	0.09310	N	1	D;D	0.63880	0.993;0.986	P;P	0.50270	0.45;0.636	T	0.40384	-0.9566	10	0.28530	T	0.3	-1.8889	5.4871	0.16755	0.1246:0.267:0.6084:0.0	.	48;48	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	48	ENSP00000312946:A48T	ENSP00000312946:A48T	A	+	1	0	STAB1	52510285	0.002000	0.14202	0.004000	0.12327	0.060000	0.15804	0.671000	0.25172	0.486000	0.27676	0.563000	0.77884	GCG		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
PBRM1	55193	broad.mit.edu	37	3	52643434	52643434	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52643434G>T	ENST00000296302.7	-	16	2463	c.2462C>A	c.(2461-2463)aCa>aAa	p.T821K	PBRM1_ENST00000409114.3_Missense_Mutation_p.T836K|PBRM1_ENST00000409057.1_Missense_Mutation_p.T821K|PBRM1_ENST00000356770.4_Missense_Mutation_p.T789K|PBRM1_ENST00000409767.1_Missense_Mutation_p.T836K|PBRM1_ENST00000337303.4_Missense_Mutation_p.T821K|PBRM1_ENST00000410007.1_Missense_Mutation_p.T821K|PBRM1_ENST00000394830.3_Missense_Mutation_p.T821K			Q86U86	PB1_HUMAN	polybromo 1	821	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T789K(1)|p.F790fs*2(1)|p.F822fs*2(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TATGTCAAATGTAAGGGGTGG	0.403			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.T821K			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	3	Insertion - Frameshift(2)|Substitution - Missense(1)	kidney(2)|large_intestine(1)	c.C2462A	3						.						125.0	123.0	124.0					3																	52643434		2203	4300	6503	52618474	SO:0001583	missense	55193	exon17			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2462C>A	3.37:g.52643434G>T	ENSP00000296302:p.Thr821Lys	Somatic		Capture	Illumina HiSeq	Phase_I	52618474	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	18.04	3.535494	0.64972	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	6.17	5.3	0.74995	Bromodomain (5);	0.087775	0.85682	D	0.000000	T	0.28466	0.0704	L	0.42245	1.32	0.58432	D	0.999996	D;P;P;P;P;D;P;B;D;P;P	0.58268	0.982;0.651;0.804;0.91;0.857;0.978;0.939;0.391;0.958;0.939;0.939	B;B;B;B;B;B;B;B;B;B;B	0.39660	0.306;0.122;0.16;0.188;0.131;0.241;0.183;0.028;0.292;0.241;0.183	T	0.09975	-1.0650	10	0.72032	D	0.01	-5.6258	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	821;196;821;821;821;821;836;836;821;789;821	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	K	789;821;821;821;821;821;836;836;821;780	ENSP00000349213:T789K;ENSP00000378307:T821K;ENSP00000296302:T821K;ENSP00000338302:T821K;ENSP00000386593:T821K;ENSP00000386529:T821K;ENSP00000386643:T836K;ENSP00000386601:T836K;ENSP00000387775:T821K;ENSP00000397662:T780K	ENSP00000296302:T821K	T	-	2	0	PBRM1	52618474	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	5.852000	0.69488	1.627000	0.50400	0.655000	0.94253	ACA		0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
PBRM1	55193	broad.mit.edu	37	3	52692286	52692286	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52692286C>T	ENST00000296302.7	-	5	575	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	PBRM1_ENST00000409114.3_Missense_Mutation_p.A192T|PBRM1_ENST00000409057.1_Missense_Mutation_p.A192T|PBRM1_ENST00000356770.4_Missense_Mutation_p.A192T|PBRM1_ENST00000409767.1_Missense_Mutation_p.A192T|PBRM1_ENST00000337303.4_Missense_Mutation_p.A192T|PBRM1_ENST00000410007.1_Missense_Mutation_p.A192T|PBRM1_ENST00000394830.3_Missense_Mutation_p.A192T			Q86U86	PB1_HUMAN	polybromo 1	192					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A192T(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAACTATGGCTTCAAGAAGC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.A192T			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	3						.						83.0	80.0	81.0					3																	52692286		2203	4300	6503	52667326	SO:0001583	missense	55193	exon6			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.574G>A	3.37:g.52692286C>T	ENSP00000296302:p.Ala192Thr	Somatic		Capture	Illumina HiSeq	Phase_I	52667326	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.362510	0.82353	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	T;T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.21	4.33	0.51752	Bromodomain (2);	0.172192	0.51477	D	0.000098	T	0.19327	0.0464	N	0.26042	0.785	0.58432	D	0.999996	B;B;B;B;P;B;P;B;B	0.42483	0.081;0.033;0.019;0.081;0.781;0.101;0.483;0.081;0.047	B;B;B;B;P;B;B;B;B	0.45310	0.041;0.043;0.023;0.041;0.476;0.056;0.206;0.041;0.033	T	0.02345	-1.1173	10	0.30078	T	0.28	-24.2358	13.0051	0.58699	0.2934:0.7065:0.0:0.0	.	192;192;192;192;192;192;192;192;192	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	192;192;192;192;192;192;192;192;192;136;192	ENSP00000349213:A192T;ENSP00000378307:A192T;ENSP00000296302:A192T;ENSP00000338302:A192T;ENSP00000386593:A192T;ENSP00000386529:A192T;ENSP00000386643:A192T;ENSP00000386601:A192T;ENSP00000387775:A192T;ENSP00000397662:A136T;ENSP00000409939:A192T	ENSP00000296302:A192T	A	-	1	0	PBRM1	52667326	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.834000	0.48167	1.190000	0.43042	0.644000	0.83932	GCC		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
ITIH3	3699	broad.mit.edu	37	3	52839831	52839831	+	Silent	SNP	G	G	T	rs368238625		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:52839831G>T	ENST00000449956.2	+	16	1887	c.1881G>T	c.(1879-1881)ccG>ccT	p.P627P	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	627					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P627P(1)|p.G628C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGCCACACCGGTGAGCCCCG	0.647																																					p.P627P												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1881T	3						.						61.0	69.0	66.0					3																	52839831		2035	4186	6221	52814871	SO:0001819	synonymous_variant	3699	exon16				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1881G>T	3.37:g.52839831G>T		Somatic		Capture	Illumina HiSeq	Phase_I	52814871	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	1.963	-0.438376	0.04636	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	4.05	-1.23	0.09465	.	.	.	.	.	T	0.26557	0.0649	.	.	.	0.19945	N	0.999948	.	.	.	.	.	.	T	0.33803	-0.9854	5	0.56958	D	0.05	.	0.7418	0.00975	0.4434:0.1225:0.1475:0.2866	.	.	.	.	C	628;616	.	ENSP00000381662:G628C	G	+	1	0	ITIH3	52814871	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.546000	0.06062	-0.198000	0.10333	-0.397000	0.06425	GGT		0.647	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
TKT	7086	broad.mit.edu	37	3	53274278	53274278	+	Silent	SNP	G	G	A	rs139845255		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:53274278G>A	ENST00000462138.1	-	4	514	c.426C>T	c.(424-426)ttC>ttT	p.F142F	TKT_ENST00000423516.1_Silent_p.F142F|TKT_ENST00000296289.6_Silent_p.F95F|TKT_ENST00000423525.2_Silent_p.F142F			P29401	TKT_HUMAN	transketolase	142					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.F142F(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TGGCCTTGTCGAAGTATTTGC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17161	0.001		0.0	False		,,,				2504	0.0				p.F142F	Colon(133;1506 2347 35238 42177)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426T	3						.	G	,	2,4404	4.2+/-10.8	0,2,2201	96.0	89.0	91.0		426,426	-2.4	1.0	3	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TKT	NM_001064.3,NM_001135055.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	142/624,142/624	53274278	2,13004	2203	4300	6503	53249318	SO:0001819	synonymous_variant	7086	exon4				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.426C>T	3.37:g.53274278G>A		Somatic		Capture	Illumina HiSeq	Phase_I	53249318	NM_001135055	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	CCDS2871.1																																																																																				0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1		
DCP1A	55802	broad.mit.edu	37	3	53376249	53376249	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:53376249G>A	ENST00000607628.1	-	3	335	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	DCP1A_ENST00000294241.6_Missense_Mutation_p.H76Y|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Missense_Mutation_p.H76Y	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	76					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)	p.H76Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		ACTAGATTGTGCATATTTAGT	0.318																																					p.H76Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226T	3						.						54.0	54.0	54.0					3																	53376249		1820	4079	5899	53351289	SO:0001583	missense	55802	exon3			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.226C>T	3.37:g.53376249G>A	ENSP00000475920:p.His76Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	53351289	NM_018403	B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37																																																																																					0.318	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403	
CACNA2D3	55799	broad.mit.edu	37	3	54914824	54914824	+	Splice_Site	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:54914824T>G	ENST00000474759.1	+	21	1894	c.1846T>G	c.(1846-1848)Tta>Gta	p.L616V	CACNA2D3_ENST00000415676.2_Splice_Site_p.L616V|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Splice_Site_p.L616V|CACNA2D3_ENST00000490478.1_Splice_Site_p.L522V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	616						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L616V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCTGCACAGTTTAGGTGTGGC	0.418																																					p.L616V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1846G	3						.						250.0	237.0	241.0					3																	54914824		1917	4144	6061	54889864	SO:0001630	splice_region_variant	55799	exon21			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1845-1T>G	3.37:g.54914824T>G		Somatic		Capture	Illumina HiSeq	Phase_I	54889864	NM_018398	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.13|12.13	1.844552|1.844552	0.32606|0.32606	.|.	.|.	ENSG00000157445|ENSG00000157445	ENST00000438476|ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.|T;T;T;T	.|0.12774	.|2.65;2.65;2.65;2.66	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.088863	.|0.48767	.|D	.|0.000161	T|T	0.15132|0.15132	0.0365|0.0365	L|L	0.48877|0.48877	1.53|1.53	0.45342|0.45342	D|D	0.998335|0.998335	.|B	.|0.17038	.|0.02	.|B	.|0.16722	.|0.016	T|T	0.03287|0.03287	-1.1052|-1.1052	6|10	0.87932|0.31617	D|T	0|0.26	0.635|0.635	14.982|14.982	0.71319|0.71319	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|616	.|Q8IZS8	.|CA2D3_HUMAN	C|V	494|616;616;616;522;522	.|ENSP00000389506:L616V;ENSP00000419101:L616V;ENSP00000288197:L616V;ENSP00000417279:L522V	ENSP00000391808:F494C|ENSP00000288197:L616V	F|L	+|+	2|1	0|2	CACNA2D3|CACNA2D3	54889864|54889864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.265000|2.265000	0.43311|0.43311	2.277000|2.277000	0.76020|0.76020	0.519000|0.519000	0.50382|0.50382	TTT|TTA		0.418	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Missense_Mutation
ERC2	26059	broad.mit.edu	37	3	56468441	56468441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:56468441C>A	ENST00000288221.6	-	2	850	c.595G>T	c.(595-597)Gaa>Taa	p.E199*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	199						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.E199*(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTGCCTCTTCTTTCCTCAAG	0.458																																					p.E199X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G595T	3						.						130.0	125.0	127.0					3																	56468441		1924	4128	6052	56443481	SO:0001587	stop_gained	26059	exon2			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.595G>T	3.37:g.56468441C>A	ENSP00000288221:p.Glu199*	Somatic		Capture	Illumina HiSeq	Phase_I	56443481	NM_015576	Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	39	7.470659	0.98306	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.0723	19.9906	0.97362	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000288221:E199X	E	-	1	0	ERC2	56443481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	2.737000	0.93849	0.643000	0.83706	GAA		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
ARHGEF3	50650	broad.mit.edu	37	3	56763450	56763450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:56763450G>T	ENST00000296315.3	-	10	1597	c.1429C>A	c.(1429-1431)Cta>Ata	p.L477I	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L483I|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L483I|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L448I|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L509I	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	477					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L477I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCTCCCTGTAGCTCTCTGCTC	0.532																																					p.L509I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1525A	3						.						213.0	190.0	198.0					3																	56763450		2203	4300	6503	56738490	SO:0001583	missense	50650	exon13			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1429C>A	3.37:g.56763450G>T	ENSP00000296315:p.Leu477Ile	Somatic		Capture	Illumina HiSeq	Phase_I	56738490	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705952	0.30232	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	T;T;T;T;T	0.23552	2.02;1.91;1.9;1.91;1.94	5.35	5.35	0.76521	.	0.251771	0.32970	N	0.005426	T	0.14960	0.0361	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.32160	0.148;0.089;0.039;0.358;0.01;0.062	B;B;B;B;B;B	0.26969	0.034;0.021;0.029;0.075;0.013;0.028	T	0.03761	-1.1006	10	0.45353	T	0.12	-7.512	7.8885	0.29665	0.1949:0.0:0.8051:0.0	.	483;448;275;509;477;483	E9PG37;E7EU49;Q9NR81-4;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	I	477;509;483;483;448	ENSP00000296315:L477I;ENSP00000341071:L509I;ENSP00000410922:L483I;ENSP00000420420:L483I;ENSP00000418826:L448I	ENSP00000296315:L477I	L	-	1	2	ARHGEF3	56738490	0.981000	0.34729	1.000000	0.80357	0.941000	0.58515	1.672000	0.37523	2.894000	0.99253	0.655000	0.94253	CTA		0.532	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555	
ARHGEF3	50650	broad.mit.edu	37	3	56771221	56771221	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:56771221G>A	ENST00000296315.3	-	8	1201	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R351W|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R351W|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R345W|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R316W|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R377W	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R345W(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACCACGCCCCGATTGTTCTTC	0.463																																					p.R377W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1129T	3						.						119.0	111.0	114.0					3																	56771221		2203	4300	6503	56746261	SO:0001583	missense	50650	exon11			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1033C>T	3.37:g.56771221G>A	ENSP00000296315:p.Arg345Trp	Somatic		Capture	Illumina HiSeq	Phase_I	56746261	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067955	0.76301	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.93	0.289	0.15723	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	L	0.56769	1.78	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.78314	0.98;0.963;0.991;0.963;0.991;0.98;0.991	T	0.58595	-0.7609	10	0.72032	D	0.01	-11.4888	16.6981	0.85341	0.0:0.0:0.2807:0.7193	.	351;316;143;345;377;345;351	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	W	345;377;351;351;316;345	ENSP00000296315:R345W;ENSP00000341071:R377W;ENSP00000410922:R351W;ENSP00000420420:R351W;ENSP00000418826:R316W;ENSP00000417986:R345W	ENSP00000296315:R345W	R	-	1	2	ARHGEF3	56746261	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	1.260000	0.32968	0.349000	0.23975	0.555000	0.69702	CGG		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555	
DENND6A	201627	broad.mit.edu	37	3	57616187	57616187	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:57616187T>G	ENST00000311128.5	-	18	1651	c.1581A>C	c.(1579-1581)caA>caC	p.Q527H	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	527					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q527H(1)									CCTCCAATTTTTGGGTCATTT	0.333																																					p.Q527H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1581C	3						.						65.0	67.0	66.0					3																	57616187		2203	4300	6503	57591227	SO:0001583	missense	201627	exon18			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1581A>C	3.37:g.57616187T>G	ENSP00000311401:p.Gln527His	Somatic		Capture	Illumina HiSeq	Phase_I	57591227	NM_152678	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.05|15.05	2.719017|2.719017	0.48622|0.48622	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.74|5.74	1.35|1.35	0.21983|0.21983	.|.	.|0.157467	.|0.64402	.|N	.|0.000013	T|T	0.58235|0.58235	0.2108|0.2108	M|M	0.83012|0.83012	2.62|2.62	0.44402|0.44402	D|D	0.997312|0.997312	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.53401|0.53401	-0.8444|-0.8444	5|9	.|0.51188	.|T	.|0.08	-0.6495|-0.6495	4.8727|4.8727	0.13640|0.13640	0.0:0.452:0.328:0.2199|0.0:0.452:0.328:0.2199	.|.	.|527	.|Q8IWF6	.|F116A_HUMAN	Q|H	99|527	.|.	.|ENSP00000311401:Q527H	K|Q	-|-	1|3	0|2	FAM116A|FAM116A	57591227|57591227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.002000|2.002000	0.40835|0.40835	0.192000|0.192000	0.20272|0.20272	0.477000|0.477000	0.44152|0.44152	AAA|CAA		0.333	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
ABHD6	57406	broad.mit.edu	37	3	58256687	58256687	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:58256687A>C	ENST00000478253.1	+	6	920	c.419A>C	c.(418-420)aAa>aCa	p.K140T	ABHD6_ENST00000295962.4_Missense_Mutation_p.K140T			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	140					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.K140T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTGAACAAAAAACCTTTCCAC	0.498																																					p.K140T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A419C	3						.						143.0	128.0	133.0					3																	58256687		2203	4300	6503	58231727	SO:0001583	missense	57406	exon5			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.419A>C	3.37:g.58256687A>C	ENSP00000420315:p.Lys140Thr	Somatic		Capture	Illumina HiSeq	Phase_I	58231727	NM_020676	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781720	0.49891	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;D;D	0.90900	-1.11;-1.11;-2.75;-2.75	5.9	4.74	0.60224	.	0.086321	0.85682	D	0.000000	D	0.88596	0.6479	M	0.65975	2.015	0.45239	D	0.998244	B;B	0.28055	0.199;0.141	B;B	0.30029	0.11;0.044	D	0.84022	0.0354	10	0.27082	T	0.32	-6.3634	11.7115	0.51628	0.9306:0.0:0.0694:0.0	.	140;140	Q9BV23;F5H7L1	ABHD6_HUMAN;.	T	140	ENSP00000420315:K140T;ENSP00000295962:K140T;ENSP00000420408:K140T;ENSP00000418934:K140T	ENSP00000295962:K140T	K	+	2	0	ABHD6	58231727	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	2.835000	0.48175	1.053000	0.40415	0.528000	0.53228	AAA		0.498	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676	
RPP14	11102	broad.mit.edu	37	3	58303179	58303179	+	Missense_Mutation	SNP	C	C	A	rs570810632		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:58303179C>A	ENST00000445193.3	+	6	742	c.331C>A	c.(331-333)Ctt>Att	p.L111I	RPP14_ENST00000466547.1_Missense_Mutation_p.L111I|RPP14_ENST00000295959.5_Missense_Mutation_p.L111I|RPP14_ENST00000528153.1_5'Flank|RPP14_ENST00000477305.1_3'UTR	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	111					tRNA processing (GO:0008033)	nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723)	p.L111I(2)		large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		TTCTCCATTTCTTCTTGCATT	0.383																																					p.L111I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C331A	3						.						206.0	188.0	194.0					3																	58303179		2203	4300	6503	58278219	SO:0001583	missense	11102	exon6			AF001175	CCDS2888.1	3p21.2	2012-05-21	2007-06-26		ENSG00000163684	ENSG00000163684			30327	protein-coding gene	gene with protein product		606112	"""ribonuclease P 14kDa subunit"""			10024167, 11929972	Standard	NM_001098783		Approved	P14	uc031sah.1	O95059	OTTHUMG00000159152	ENST00000445193.3:c.331C>A	3.37:g.58303179C>A	ENSP00000412894:p.Leu111Ile	Somatic		Capture	Illumina HiSeq	Phase_I	58278219	NM_001098783	Q53X97	Missense_Mutation	SNP	ENST00000445193.3	37	CCDS2888.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853569	0.91355	.	.	ENSG00000163684	ENST00000445193;ENST00000295959;ENST00000466547	.	.	.	5.91	5.91	0.95273	.	0.197721	0.43416	D	0.000566	T	0.79476	0.4452	M	0.72118	2.19	0.47819	D	0.999523	D	0.76494	0.999	D	0.87578	0.998	T	0.79640	-0.1719	9	0.62326	D	0.03	-0.8571	18.4816	0.90813	0.0:1.0:0.0:0.0	.	111	O95059	RPP14_HUMAN	I	111	.	ENSP00000295959:L111I	L	+	1	0	RPP14	58278219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.498000	0.60373	2.804000	0.96469	0.650000	0.86243	CTT		0.383	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353527.2	NM_007042	
PTPRG	5793	broad.mit.edu	37	3	62253423	62253423	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:62253423T>G	ENST00000474889.1	+	19	3180	c.2803T>G	c.(2803-2805)Ttc>Gtc	p.F935V	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.F906V|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	935	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F935V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATTTGAAGATTTCTGGAGGAT	0.393																																					p.F935V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2803G	3						.						160.0	152.0	154.0					3																	62253423		2203	4299	6502	62228463	SO:0001583	missense	5793	exon19			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2803T>G	3.37:g.62253423T>G	ENSP00000418112:p.Phe935Val	Somatic		Capture	Illumina HiSeq	Phase_I	62228463	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	32	5.130105	0.94473	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.39787	1.06;1.06	5.85	5.85	0.93711	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88120	0.2831	10	0.87932	D	0	.	16.2303	0.82332	0.0:0.0:0.0:1.0	.	181;906;935	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	V	935;906	ENSP00000418112:F935V;ENSP00000295874:F906V	ENSP00000295874:F906V	F	+	1	0	PTPRG	62228463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.233000	0.73108	0.533000	0.62120	TTC		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
PSMD6	9861	broad.mit.edu	37	3	64004505	64004505	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:64004505G>A	ENST00000295901.4	-	4	846	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	RP11-245J9.4_ENST00000462717.1_RNA|PSMD6_ENST00000394431.2_Missense_Mutation_p.L198F|PSMD6_ENST00000492933.1_Missense_Mutation_p.L289F|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000482510.1_Missense_Mutation_p.L197F	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	236	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.L236F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTTTCCCTGAGATCTGGTCTT	0.279																																					p.L236F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706T	3						.						71.0	73.0	73.0					3																	64004505		2203	4300	6503	63979545	SO:0001583	missense	9861	exon4			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.706C>T	3.37:g.64004505G>A	ENSP00000295901:p.Leu236Phe	Somatic		Capture	Illumina HiSeq	Phase_I	63979545	NM_014814	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.902894|4.902894	0.92035|0.92035	.|.	.|.	ENSG00000163636|ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510|ENST00000480205	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77329|0.77329	0.4114|0.4114	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.974;0.998;1.0|.	D;P;D;D|.	0.91635|.	0.999;0.903;0.957;0.998|.	T|T	0.73886|0.73886	-0.3841|-0.3841	9|5	0.51188|.	T|.	0.08|.	-14.9479|-14.9479	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	198;197;289;236|.	Q6UV22;E9PHI9;C9IZE4;Q15008|.	.;.;.;PSMD6_HUMAN|.	F|F	236;289;198;197|83	.|.	ENSP00000295901:L236F|.	L|S	-|-	1|2	0|0	PSMD6|PSMD6	63979545|63979545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.279	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
PRICKLE2	166336	broad.mit.edu	37	3	64142936	64142936	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:64142936G>A	ENST00000295902.6	-	5	1087	c.502C>T	c.(502-504)Ctc>Ttc	p.L168F	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L224F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	168	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L168F(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCCACCAGGAGCTCATTGCAG	0.572																																					p.L168F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	3						.						80.0	67.0	72.0					3																	64142936		2203	4300	6503	64117976	SO:0001583	missense	166336	exon5			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.502C>T	3.37:g.64142936G>A	ENSP00000295902:p.Leu168Phe	Somatic		Capture	Illumina HiSeq	Phase_I	64117976	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532184	0.64972	.	.	ENSG00000163637	ENST00000295902	D	0.87571	-2.27	5.82	4.03	0.46877	Zinc finger, LIM-type (5);	0.101723	0.41001	N	0.000963	D	0.92532	0.7628	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.92607	0.6096	10	0.72032	D	0.01	-33.8198	9.3812	0.38316	0.213:0.0:0.787:0.0	.	168	Q7Z3G6	PRIC2_HUMAN	F	168	ENSP00000295902:L168F	ENSP00000295902:L168F	L	-	1	0	PRICKLE2	64117976	1.000000	0.71417	0.992000	0.48379	0.196000	0.23810	3.465000	0.53064	1.479000	0.48272	0.650000	0.86243	CTC		0.572	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
ADAMTS9	56999	broad.mit.edu	37	3	64582519	64582519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:64582519C>T	ENST00000498707.1	-	27	4508	c.4166G>A	c.(4165-4167)gGc>gAc	p.G1389D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1361D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1389	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1389D(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCCAGTTGCCATAAGCCCA	0.428																																					p.G1389D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4166A	3						.						97.0	88.0	91.0					3																	64582519		2203	4300	6503	64557559	SO:0001583	missense	56999	exon27			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4166G>A	3.37:g.64582519C>T	ENSP00000418735:p.Gly1389Asp	Somatic		Capture	Illumina HiSeq	Phase_I	64557559	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.703341|4.703341	0.88924|0.88924	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.63580	.|-0.05;-0.05	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.120761	.|0.56097	.|D	.|0.000031	D|D	0.82779|0.82779	0.5111|0.5111	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.988;0.997	D|D	0.84944|0.84944	0.0867|0.0867	5|10	.|0.72032	.|D	.|0.01	.|.	19.3682|19.3682	0.94473|0.94473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1361;1389;1389	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	T|D	445|1361;1389	.|ENSP00000295903:G1361D;ENSP00000418735:G1389D	.|ENSP00000295903:G1361D	A|G	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64557559|64557559	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.930000|0.930000	0.56654|0.56654	7.273000|7.273000	0.78527|0.78527	2.818000|2.818000	0.97014|0.97014	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.428	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
SUCLG2	8801	broad.mit.edu	37	3	67579540	67579540	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:67579540A>C	ENST00000307227.5	-	3	324	c.297T>G	c.(295-297)ggT>ggG	p.G99G	SUCLG2_ENST00000493112.1_Silent_p.G99G|SUCLG2_ENST00000492795.1_Silent_p.G99G	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	99	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.G51G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTCCTTTCAAACCACTATTGA	0.378																																					p.G99G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T297G	3						.						155.0	147.0	149.0					3																	67579540		1833	4082	5915	67662230	SO:0001819	synonymous_variant	8801	exon3			AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.297T>G	3.37:g.67579540A>C		Somatic		Capture	Illumina HiSeq	Phase_I	67662230	NM_001177599	C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Silent	SNP	ENST00000307227.5	37	CCDS43104.1																																																																																				0.378	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848	
TMF1	7110	broad.mit.edu	37	3	69073286	69073286	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:69073286C>T	ENST00000398559.2	-	16	3274	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.E1023K|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1020					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.E1020K(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTAACTAGTTCTTCAGCCATT	0.313																																					p.E1020K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3058A	3						.						160.0	149.0	152.0					3																	69073286		1823	4075	5898	69155976	SO:0001583	missense	7110	exon16				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3058G>A	3.37:g.69073286C>T	ENSP00000381567:p.Glu1020Lys	Somatic		Capture	Illumina HiSeq	Phase_I	69155976	NM_007114	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512669	0.96402	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.85702	-2.02;-2.02	5.59	5.59	0.84812	.	0.104953	0.64402	D	0.000005	D	0.94145	0.8122	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.988	D	0.94814	0.7981	10	0.87932	D	0	-17.6514	19.6022	0.95568	0.0:1.0:0.0:0.0	.	1023;1020	P82094-2;P82094	.;TMF1_HUMAN	K	1020;1023;936	ENSP00000381567:E1020K;ENSP00000438706:E1023K	ENSP00000348582:E936K	E	-	1	0	TMF1	69155976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.620000	0.88729	0.557000	0.71058	GAA		0.313	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
ARL6IP5	10550	broad.mit.edu	37	3	69134360	69134360	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:69134360G>A	ENST00000273258.3	+	1	266	c.162G>A	c.(160-162)atG>atA	p.M54I	ARL6IP5_ENST00000478935.1_Missense_Mutation_p.M54I	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	54					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.M54I(1)		biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CTGCCATGATGATTTCCATTG	0.602																																					p.M54I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162A	3						.						84.0	84.0	84.0					3																	69134360		2203	4300	6503	69217050	SO:0001583	missense	10550	exon1			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.162G>A	3.37:g.69134360G>A	ENSP00000273258:p.Met54Ile	Somatic		Capture	Illumina HiSeq	Phase_I	69217050	NM_006407	B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	ENST00000273258.3	37	CCDS2912.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329635	0.24167	.	.	ENSG00000144746	ENST00000273258;ENST00000412089;ENST00000478935	T;T	0.37058	1.22;1.22	5.7	5.7	0.88788	.	0.047968	0.85682	D	0.000000	T	0.09642	0.0237	N	0.00289	-1.7	0.40364	D	0.979279	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	10	0.02654	T	1	-44.5052	15.5664	0.76298	0.0:0.2394:0.7606:0.0	.	54	O75915	PRAF3_HUMAN	I	54	ENSP00000273258:M54I;ENSP00000420138:M54I	ENSP00000273258:M54I	M	+	3	0	ARL6IP5	69217050	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.310000	0.43708	2.861000	0.98227	0.655000	0.94253	ATG		0.602	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1	NM_006407	
CNTN3	5067	broad.mit.edu	37	3	74411073	74411073	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:74411073C>A	ENST00000263665.6	-	10	1359	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	444	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K444N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATCCCCCTTCTTCCAGGAAG	0.483																																					p.K444N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1332T	3						.						75.0	75.0	75.0					3																	74411073		2203	4300	6503	74493763	SO:0001583	missense	5067	exon10			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1332G>T	3.37:g.74411073C>A	ENSP00000263665:p.Lys444Asn	Somatic		Capture	Illumina HiSeq	Phase_I	74493763	NM_020872	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555471	0.45487	.	.	ENSG00000113805	ENST00000263665	T	0.27890	1.64	5.41	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.107337	0.64402	D	0.000005	T	0.43853	0.1266	L	0.59912	1.85	0.43364	D	0.995448	D	0.58620	0.983	P	0.61477	0.889	T	0.17048	-1.0382	10	0.28530	T	0.3	.	10.2873	0.43575	0.0:0.7823:0.0:0.2177	.	444	Q9P232	CNTN3_HUMAN	N	444	ENSP00000263665:K444N	ENSP00000263665:K444N	K	-	3	2	CNTN3	74493763	1.000000	0.71417	0.965000	0.40720	0.105000	0.19272	1.723000	0.38053	0.771000	0.33359	0.591000	0.81541	AAG		0.483	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
CNTN3	5067	broad.mit.edu	37	3	74414734	74414734	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:74414734C>A	ENST00000263665.6	-	8	1093	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	356	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A356S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCAGGGCTGCTCCATTTTTC	0.483																																					p.A356S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1066T	3						.						215.0	209.0	211.0					3																	74414734		2203	4300	6503	74497424	SO:0001583	missense	5067	exon8			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1066G>T	3.37:g.74414734C>A	ENSP00000263665:p.Ala356Ser	Somatic		Capture	Illumina HiSeq	Phase_I	74497424	NM_020872	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668711	0.29604	.	.	ENSG00000113805	ENST00000263665	T	0.64260	-0.09	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.291251	0.37304	N	0.002158	T	0.38295	0.1035	N	0.02830	-0.485	0.27434	N	0.953902	B	0.02656	0.0	B	0.10450	0.005	T	0.19484	-1.0304	10	0.27082	T	0.32	.	14.6963	0.69124	0.0:0.8552:0.1448:0.0	.	356	Q9P232	CNTN3_HUMAN	S	356	ENSP00000263665:A356S	ENSP00000263665:A356S	A	-	1	0	CNTN3	74497424	1.000000	0.71417	0.841000	0.33234	0.169000	0.22640	3.694000	0.54742	2.501000	0.84356	0.591000	0.81541	GCA		0.483	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
GBE1	2632	broad.mit.edu	37	3	81720086	81720086	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:81720086G>A	ENST00000429644.2	-	3	975	c.332C>T	c.(331-333)tCg>tTg	p.S111L	GBE1_ENST00000477426.1_5'UTR|GBE1_ENST00000489715.1_Missense_Mutation_p.S70L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	111					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S111L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTATGGGTACGAAAATGGATT	0.338									Glycogen Storage Disease, type IV																												p.S111L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332T	3						.						64.0	60.0	61.0					3																	81720086		1816	4085	5901	81802776	SO:0001583	missense	2632	exon3	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.332C>T	3.37:g.81720086G>A	ENSP00000410833:p.Ser111Leu	Somatic		Capture	Illumina HiSeq	Phase_I	81802776	NM_000158	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802766	0.70682	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18657	2.2;2.21	5.5	3.72	0.42706	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.57536	1.79	0.38321	D	0.943534	P;D	0.54207	0.888;0.965	B;P	0.51055	0.3;0.657	T	0.14309	-1.0477	10	0.66056	D	0.02	-3.5779	11.1977	0.48722	0.1509:0.0:0.8491:0.0	.	70;111	E9PGM4;Q04446	.;GLGB_HUMAN	L	111;162;70	ENSP00000410833:S111L;ENSP00000419638:S70L	ENSP00000264326:S162L	S	-	2	0	GBE1	81802776	1.000000	0.71417	0.699000	0.30290	0.813000	0.45954	5.642000	0.67888	0.694000	0.31654	0.650000	0.86243	TCG		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
VGLL3	389136	broad.mit.edu	37	3	87017961	87017961	+	Missense_Mutation	SNP	C	C	T	rs202199504	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:87017961C>T	ENST00000398399.2	-	3	1079	c.716G>A	c.(715-717)cGc>cAc	p.R239H	VGLL3_ENST00000383698.3_Missense_Mutation_p.R239H	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.R239H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		gtggcggtggcggtggtgCAT	0.587																																					p.R239H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G716A	3						.						60.0	64.0	63.0					3																	87017961		2180	4277	6457	87100651	SO:0001583	missense	389136	exon3			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.716G>A	3.37:g.87017961C>T	ENSP00000381436:p.Arg239His	Somatic		Capture	Illumina HiSeq	Phase_I	87100651	NM_016206		Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981378	0.18812	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.48201	0.85;0.82	5.81	4.94	0.65067	.	0.652897	0.14116	N	0.340371	T	0.15955	0.0384	N	0.00707	-1.245	0.30086	N	0.808745	B	0.06786	0.001	B	0.01281	0.0	T	0.17167	-1.0378	10	0.15499	T	0.54	-11.4066	7.38	0.26849	0.0:0.7212:0.0:0.2788	.	239	A8MV65	VGLL3_HUMAN	H	239	ENSP00000381436:R239H;ENSP00000373199:R239H	ENSP00000373199:R239H	R	-	2	0	VGLL3	87100651	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	0.992000	0.29667	1.471000	0.48121	0.511000	0.50034	CGC		0.587	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206	
PROS1	5627	broad.mit.edu	37	3	93598107	93598107	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:93598107C>T	ENST00000394236.3	-	13	1860	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	PROS1_ENST00000407433.1_Missense_Mutation_p.R384H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	515	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> C (in THPH5; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant). {ECO:0000269|PubMed:8639833, ECO:0000269|PubMed:8765219}.|R -> P (in THPH5). {ECO:0000269|PubMed:10613647, ECO:0000269|PubMed:15712227}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.R515H(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CGTGGATGGACGAATATTCAA	0.438																																					p.R515H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544A	3	GRCh37	CM992960	PROS1	M		.						150.0	127.0	135.0					3																	93598107		2203	4300	6503	95080797	SO:0001583	missense	5627	exon13				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1544G>A	3.37:g.93598107C>T	ENSP00000377783:p.Arg515His	Somatic		Capture	Illumina HiSeq	Phase_I	95080797	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988083	0.35036	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.84370	-1.84;-1.84	4.02	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.107659	0.64402	D	0.000007	D	0.84437	0.5472	M	0.76574	2.34	0.51482	D	0.999929	B	0.22346	0.068	B	0.19946	0.027	D	0.83530	0.0090	10	0.45353	T	0.12	.	15.0702	0.72030	0.0:1.0:0.0:0.0	.	515	P07225	PROS_HUMAN	H	515;384	ENSP00000377783:R515H;ENSP00000385794:R384H	ENSP00000377783:R515H	R	-	2	0	PROS1	95080797	1.000000	0.71417	0.497000	0.27552	0.325000	0.28411	6.442000	0.73443	2.062000	0.61559	0.555000	0.69702	CGT		0.438	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
IQCG	84223	broad.mit.edu	37	3	197659123	197659123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr3:197659123G>A	ENST00000265239.6	-	6	990	c.566C>T	c.(565-567)tCg>tTg	p.S189L	IQCG_ENST00000455191.1_Missense_Mutation_p.S189L|IQCG_ENST00000453254.1_Missense_Mutation_p.S189L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	189						extracellular vesicular exosome (GO:0070062)		p.S189L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTAAGTGGCCGAATCTTGCAA	0.388																																					p.S189L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C566T	3						.						149.0	140.0	143.0					3																	197659123		2203	4300	6503	199143520	SO:0001583	missense	84223	exon6			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.566C>T	3.37:g.197659123G>A	ENSP00000265239:p.Ser189Leu	Somatic		Capture	Illumina HiSeq	Phase_I	199143520	NM_032263	Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	5.713	0.315993	0.10789	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.54675	0.88;0.88;0.56;0.85	4.81	1.88	0.25563	.	0.956981	0.08655	N	0.913367	T	0.42539	0.1207	M	0.74258	2.255	0.09310	N	1	P;B	0.39352	0.669;0.148	B;B	0.28139	0.086;0.032	T	0.30179	-0.9987	10	0.20046	T	0.44	-0.2482	4.1284	0.10138	0.0931:0.159:0.5845:0.1635	.	189;189	C9JKX8;Q9H095	.;IQCG_HUMAN	L	189;189;189;170	ENSP00000265239:S189L;ENSP00000407736:S189L;ENSP00000389897:S189L;ENSP00000406411:S170L	ENSP00000265239:S189L	S	-	2	0	IQCG	199143520	0.020000	0.18652	0.020000	0.16555	0.415000	0.31203	0.202000	0.17295	0.522000	0.28464	0.460000	0.39030	TCG		0.388	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263	
ADH7	131	broad.mit.edu	37	4	100348987	100348987	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:100348987G>T	ENST00000209665.4	-	5	783	c.543C>A	c.(541-543)gtC>gtA	p.V181V	ADH7_ENST00000476959.1_Silent_p.V189V|ADH7_ENST00000437033.2_Silent_p.V169V|ADH7_ENST00000482593.1_Silent_p.V112V	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	181					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.V181V(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CAATTAAACAGACTTTCTCAG	0.433																																					p.V181V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543A	4						.						143.0	124.0	131.0					4																	100348987		2203	4299	6502	100568010	SO:0001819	synonymous_variant	131	exon5			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.543C>A	4.37:g.100348987G>T		Somatic		Capture	Illumina HiSeq	Phase_I	100568010	NM_000673	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	CCDS34034.1																																																																																				0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673	
MTTP	4547	broad.mit.edu	37	4	100512398	100512398	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:100512398A>G	ENST00000265517.5	+	5	711	c.508A>G	c.(508-510)Atc>Gtc	p.I170V	MTTP_ENST00000511045.1_Missense_Mutation_p.I197V|MTTP_ENST00000457717.1_Missense_Mutation_p.I170V			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	170	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.I170V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTAGGTAGATATCTCTGGAAA	0.408																																					p.I170V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A508G	4						.						103.0	99.0	100.0					4																	100512398		2203	4300	6503	100731421	SO:0001583	missense	4547	exon6				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.508A>G	4.37:g.100512398A>G	ENSP00000265517:p.Ile170Val	Somatic		Capture	Illumina HiSeq	Phase_I	100731421	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	6.401	0.442187	0.12164	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.27104	1.69;1.69;1.69	5.9	0.45	0.16624	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.411672	0.29594	N	0.011705	T	0.15565	0.0375	L	0.31420	0.93	0.33746	D	0.619999	B;B	0.12630	0.001;0.006	B;B	0.20184	0.003;0.028	T	0.23476	-1.0187	9	.	.	.	-32.9172	8.5738	0.33585	0.6637:0.0:0.3363:0.0	.	197;170	E9PBP6;P55157	.;MTP_HUMAN	V	197;170;170;170	ENSP00000427679:I197V;ENSP00000400821:I170V;ENSP00000265517:I170V	.	I	+	1	0	MTTP	100731421	0.995000	0.38212	0.990000	0.47175	0.961000	0.63080	1.004000	0.29822	-0.122000	0.11766	-0.256000	0.11100	ATC		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
MTTP	4547	broad.mit.edu	37	4	100543939	100543939	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:100543939G>T	ENST00000265517.5	+	18	2822	c.2619G>T	c.(2617-2619)gaG>gaT	p.E873D	MTTP_ENST00000511045.1_Missense_Mutation_p.E900D|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.E873D			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	873					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.E873D(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCCATCAAGAGAACTCAGAGA	0.438																																					p.E873D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2619T	4						.						165.0	162.0	163.0					4																	100543939		2203	4300	6503	100762962	SO:0001583	missense	4547	exon19				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2619G>T	4.37:g.100543939G>T	ENSP00000265517:p.Glu873Asp	Somatic		Capture	Illumina HiSeq	Phase_I	100762962	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080912	0.76528	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62941	-0.01;0.01;0.01	6.16	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.71581	2.175	0.46437	D	0.999049	D;D	0.76494	0.995;0.999	P;D	0.78314	0.866;0.991	T	0.73078	-0.4096	10	0.35671	T	0.21	7.6465	13.4247	0.61018	0.122:0.0:0.878:0.0	.	900;873	E9PBP6;P55157	.;MTP_HUMAN	D	900;873;873	ENSP00000427679:E900D;ENSP00000400821:E873D;ENSP00000265517:E873D	ENSP00000265517:E873D	E	+	3	2	MTTP	100762962	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.383000	0.44354	2.937000	0.99478	0.650000	0.86243	GAG		0.438	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
EMCN	51705	broad.mit.edu	37	4	101344551	101344551	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:101344551T>C	ENST00000296420.4	-	6	604	c.426A>G	c.(424-426)ctA>ctG	p.L142L	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Silent_p.L129L	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	142						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L142L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CATCTGGTTGTAGAACACTAC	0.378																																					p.L129L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A387G	4						.						176.0	169.0	171.0					4																	101344551		2203	4300	6503	101563574	SO:0001819	synonymous_variant	51705	exon5			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.426A>G	4.37:g.101344551T>C		Somatic		Capture	Illumina HiSeq	Phase_I	101563574	NM_001159694	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	CCDS3655.1																																																																																				0.378	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242	
BANK1	55024	broad.mit.edu	37	4	102751083	102751083	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:102751083G>T	ENST00000322953.4	+	2	463	c.189G>T	c.(187-189)gaG>gaT	p.E63D	BANK1_ENST00000504592.1_Missense_Mutation_p.E48D|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.E33D|BANK1_ENST00000428908.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	63	Interaction with ITPR2.				B cell activation (GO:0042113)			p.E63D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATCGCTTGGAGAATTTCTCTT	0.363																																					p.E63D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G189T	4						.						79.0	81.0	80.0					4																	102751083		2203	4300	6503	102970106	SO:0001583	missense	55024	exon2			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.189G>T	4.37:g.102751083G>T	ENSP00000320509:p.Glu63Asp	Somatic		Capture	Illumina HiSeq	Phase_I	102970106	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071219	0.20147	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.09350	2.99;2.99;2.99	5.18	-0.295	0.12828	.	1.002150	0.08047	N	0.996001	T	0.08802	0.0218	L	0.42245	1.32	0.09310	N	0.999999	P;P	0.36249	0.545;0.545	B;B	0.35770	0.21;0.21	T	0.39418	-0.9615	10	0.13853	T	0.58	.	7.3412	0.26637	0.2792:0.3389:0.3818:0.0	.	63;48	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	D	48;63;33	ENSP00000421443:E48D;ENSP00000320509:E63D;ENSP00000388817:E33D	ENSP00000320509:E63D	E	+	3	2	BANK1	102970106	0.003000	0.15002	0.075000	0.20258	0.809000	0.45718	0.033000	0.13754	-0.053000	0.13289	-0.142000	0.14014	GAG		0.363	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
BANK1	55024	broad.mit.edu	37	4	102839210	102839210	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:102839210A>G	ENST00000322953.4	+	7	1344	c.1070A>G	c.(1069-1071)aAc>aGc	p.N357S	BANK1_ENST00000504592.1_Missense_Mutation_p.N342S|BANK1_ENST00000508653.1_Missense_Mutation_p.N224S|BANK1_ENST00000444316.2_Missense_Mutation_p.N327S|BANK1_ENST00000428908.1_Missense_Mutation_p.N224S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	357					B cell activation (GO:0042113)			p.N357S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGCTTAAAGAACCTGGCTATT	0.393																																					p.N357S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1070G	4						.						100.0	100.0	100.0					4																	102839210		2203	4299	6502	103058233	SO:0001583	missense	55024	exon7			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1070A>G	4.37:g.102839210A>G	ENSP00000320509:p.Asn357Ser	Somatic		Capture	Illumina HiSeq	Phase_I	103058233	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.772263	0.31411	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.66	3.49	0.39957	Ankyrin repeat-containing domain (1);	0.346611	0.25887	N	0.027651	T	0.44030	0.1274	M	0.65975	2.015	0.29480	N	0.856447	B;B;B	0.30709	0.291;0.041;0.041	B;B;B	0.31869	0.137;0.016;0.016	T	0.44651	-0.9314	10	0.44086	T	0.13	.	8.1792	0.31300	0.9049:0.0:0.0951:0.0	.	224;357;342	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	S	342;357;224;224;327	ENSP00000421443:N342S;ENSP00000320509:N357S;ENSP00000412748:N224S;ENSP00000422314:N224S;ENSP00000388817:N327S	ENSP00000320509:N357S	N	+	2	0	BANK1	103058233	0.995000	0.38212	0.999000	0.59377	0.966000	0.64601	3.457000	0.53007	0.825000	0.34637	0.533000	0.62120	AAC		0.393	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
CENPE	1062	broad.mit.edu	37	4	104032041	104032041	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:104032041A>C	ENST00000265148.3	-	47	7757	c.7668T>G	c.(7666-7668)atT>atG	p.I2556M	CENPE_ENST00000380026.3_Missense_Mutation_p.I2435M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2556	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.I2519M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTAACTTAGAAATTTCTTTTT	0.328																																					p.I2556M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7668G	4						.						132.0	121.0	125.0					4																	104032041		2203	4300	6503	104251490	SO:0001583	missense	1062	exon47			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7668T>G	4.37:g.104032041A>C	ENSP00000265148:p.Ile2556Met	Somatic		Capture	Illumina HiSeq	Phase_I	104251490	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	7.903	0.734740	0.15574	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.68765	-0.35;-0.34	4.22	-1.35	0.09114	.	.	.	.	.	T	0.54759	0.1878	L	0.47716	1.5	0.22253	N	0.999256	B;B	0.15141	0.012;0.008	B;B	0.15484	0.013;0.006	T	0.48875	-0.8996	9	0.66056	D	0.02	.	6.5597	0.22479	0.3549:0.5449:0.1003:0.0	.	2435;2556	Q02224-3;Q02224	.;CENPE_HUMAN	M	2556;2435	ENSP00000265148:I2556M;ENSP00000369365:I2435M	ENSP00000265148:I2556M	I	-	3	3	CENPE	104251490	0.000000	0.05858	0.948000	0.38648	0.528000	0.34623	-1.682000	0.01935	-0.398000	0.07679	-0.321000	0.08615	ATT		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104080412	104080412	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:104080412G>T	ENST00000265148.3	-	22	2445	c.2356C>A	c.(2356-2358)Cat>Aat	p.H786N	CENPE_ENST00000380026.3_Missense_Mutation_p.H761N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	786					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.H786N(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCTCCTTATGAACTACTTCA	0.308																																					p.H786N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2356A	4						.						82.0	82.0	82.0					4																	104080412		2200	4297	6497	104299861	SO:0001583	missense	1062	exon22			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2356C>A	4.37:g.104080412G>T	ENSP00000265148:p.His786Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104299861	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.383844	0.01194	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.66099	-0.19;-0.19;0.14	5.03	-6.04	0.02178	.	.	.	.	.	T	0.41834	0.1176	L	0.44542	1.39	0.09310	N	1	B;B	0.23806	0.001;0.091	B;B	0.16722	0.002;0.016	T	0.25363	-1.0134	9	0.17832	T	0.49	.	3.7027	0.08389	0.1829:0.4467:0.1529:0.2175	.	761;786	Q02224-3;Q02224	.;CENPE_HUMAN	N	786;786;761;786	ENSP00000265148:H786N;ENSP00000369365:H761N;ENSP00000423981:H786N	ENSP00000265148:H786N	H	-	1	0	CENPE	104299861	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.223000	0.02962	-1.464000	0.01902	-0.188000	0.12872	CAT		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104098120	104098120	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:104098120T>C	ENST00000265148.3	-	14	1415	c.1326A>G	c.(1324-1326)atA>atG	p.I442M	CENPE_ENST00000380026.3_Missense_Mutation_p.I442M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	442					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.I442M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TATTTGTTGGTATATTAAATT	0.284																																					p.I442M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1326G	4						.						93.0	90.0	91.0					4																	104098120		2201	4287	6488	104317569	SO:0001583	missense	1062	exon14			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1326A>G	4.37:g.104098120T>C	ENSP00000265148:p.Ile442Met	Somatic		Capture	Illumina HiSeq	Phase_I	104317569	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807991	0.16467	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.55930	0.49;0.49;0.49	5.4	-3.03	0.05429	.	.	.	.	.	T	0.23649	0.0572	N	0.10874	0.06	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.09377	0.004;0.002	T	0.12915	-1.0529	9	0.22109	T	0.4	.	1.4222	0.02314	0.2132:0.262:0.1058:0.419	.	442;442	Q02224-3;Q02224	.;CENPE_HUMAN	M	442	ENSP00000265148:I442M;ENSP00000369365:I442M;ENSP00000423981:I442M	ENSP00000265148:I442M	I	-	3	3	CENPE	104317569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.427000	0.06999	-0.861000	0.04094	-0.733000	0.03571	ATA		0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TET2	54790	broad.mit.edu	37	4	106157965	106157965	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:106157965C>A	ENST00000540549.1	+	3	3726	c.2866C>A	c.(2866-2868)Ctc>Atc	p.L956I	TET2_ENST00000305737.2_Missense_Mutation_p.L956I|TET2_ENST00000413648.2_Missense_Mutation_p.L956I|TET2_ENST00000513237.1_Missense_Mutation_p.L977I|TET2_ENST00000380013.4_Missense_Mutation_p.L956I|TET2_ENST00000545826.1_Missense_Mutation_p.L956I|TET2_ENST00000394764.1_Missense_Mutation_p.L956I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	956	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L956I(1)|p.A950fs*15(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAGGTGGCATCTCTTACAGAA	0.502			"""Mis N, F"""		MDS																																p.L956I			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C2866A	4						.						98.0	84.0	88.0					4																	106157965		2203	4300	6503	106377414	SO:0001583	missense	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2866C>A	4.37:g.106157965C>A	ENSP00000442788:p.Leu956Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106377414	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843725	0.71488	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.25085	1.82;1.82;2.8;1.82;1.82;1.82;1.82	5.79	5.79	0.91817	.	0.000000	0.34932	U	0.003562	T	0.33847	0.0877	L	0.34521	1.04	0.35918	D	0.831598	D;D;D	0.65815	0.976;0.976;0.995	P;P;D	0.62955	0.634;0.634;0.909	T	0.33085	-0.9882	10	0.45353	T	0.12	.	9.0838	0.36567	0.1477:0.7797:0.0:0.0726	.	977;956;956	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	956;956;956;977;956;956;956	ENSP00000306705:L956I;ENSP00000442788:L956I;ENSP00000442867:L956I;ENSP00000425443:L977I;ENSP00000369351:L956I;ENSP00000378245:L956I;ENSP00000391448:L956I	ENSP00000265149:L956I	L	+	1	0	TET2	106377414	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.516000	0.60496	2.733000	0.93635	0.655000	0.94253	CTC		0.502	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
CFI	3426	broad.mit.edu	37	4	110662249	110662249	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:110662249T>G	ENST00000394634.2	-	13	1759	c.1552A>C	c.(1552-1554)Atc>Ctc	p.I518L	CFI_ENST00000394635.3_Missense_Mutation_p.I526L|CFI_ENST00000512148.1_Missense_Mutation_p.I511L	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	518	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.I518L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CAGGCATCGATGGAACCATCA	0.453																																					p.I518L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1552C	4						.						127.0	135.0	132.0					4																	110662249		2203	4300	6503	110881698	SO:0001583	missense	3426	exon13			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1552A>C	4.37:g.110662249T>G	ENSP00000378130:p.Ile518Leu	Somatic		Capture	Illumina HiSeq	Phase_I	110881698	NM_000204	O60442	Missense_Mutation	SNP	ENST00000394634.2	37	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661587	0.47572	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88586	-2.4;-2.4;-2.4	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.279935	0.36234	N	0.002701	D	0.84070	0.5391	L	0.48642	1.525	0.29443	N	0.859016	P;B;P	0.39883	0.454;0.088;0.693	B;B;B	0.39119	0.228;0.053;0.291	T	0.81807	-0.0763	10	0.52906	T	0.07	-17.7926	8.3363	0.32217	0.0:0.0884:0.0:0.9116	.	526;511;518	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	L	526;518;511	ENSP00000378131:I526L;ENSP00000378130:I518L;ENSP00000427438:I511L	ENSP00000378130:I518L	I	-	1	0	CFI	110881698	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.904000	0.48719	1.971000	0.57363	0.524000	0.50904	ATC		0.453	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
LRIT3	345193	broad.mit.edu	37	4	110791254	110791254	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:110791254G>T	ENST00000594814.1	+	4	1349	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	LRIT3_ENST00000327908.3_Missense_Mutation_p.R267I|LRIT3_ENST00000409621.2_Missense_Mutation_p.R267I|LRIT3_ENST00000379920.3_Missense_Mutation_p.R405I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	450					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R267I(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAAAGAAATTTAAAG	0.463																																					p.R405I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214T	4						.						74.0	76.0	75.0					4																	110791254		2203	4300	6503	111010703	SO:0001583	missense	345193	exon3			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1349G>T	4.37:g.110791254G>T	ENSP00000469759:p.Arg450Ile	Somatic		Capture	Illumina HiSeq	Phase_I	111010703	NM_198506	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228751	0.22542	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.59772	0.24;0.46;0.24	4.72	2.91	0.33838	.	1.414070	0.03749	N	0.256296	T	0.47248	0.1435	L	0.38175	1.15	0.31219	N	0.697721	P;P	0.45078	0.593;0.85	B;B	0.40285	0.174;0.325	T	0.49031	-0.8981	10	0.38643	T	0.18	.	3.5817	0.07955	0.2813:0.0:0.5306:0.1881	.	405;267	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	I	267;405;267	ENSP00000328222:R267I;ENSP00000369252:R405I;ENSP00000386734:R267I	ENSP00000328222:R267I	R	+	2	0	LRIT3	111010703	0.987000	0.35691	0.141000	0.22245	0.050000	0.14768	2.421000	0.44688	0.929000	0.37192	0.655000	0.94253	AGA		0.463	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
ENPEP	2028	broad.mit.edu	37	4	111470999	111470999	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:111470999C>A	ENST00000265162.5	+	17	2800	c.2458C>A	c.(2458-2460)Ctg>Atg	p.L820M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	820					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L820M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AGAAAAACTGCTGTATGGATT	0.348																																					p.L820M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2458A	4						.						76.0	79.0	78.0					4																	111470999		2203	4300	6503	111690448	SO:0001583	missense	2028	exon17			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2458C>A	4.37:g.111470999C>A	ENSP00000265162:p.Leu820Met	Somatic		Capture	Illumina HiSeq	Phase_I	111690448	NM_001977	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	7.118	0.577339	0.13686	.	.	ENSG00000138792	ENST00000265162	T	0.10573	2.86	5.27	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.41824	1.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.01725	-1.1287	10	0.24483	T	0.36	.	14.2076	0.65744	0.0:0.9268:0.0:0.0731	.	820	Q07075	AMPE_HUMAN	M	820	ENSP00000265162:L820M	ENSP00000265162:L820M	L	+	1	2	ENPEP	111690448	1.000000	0.71417	0.990000	0.47175	0.737000	0.42083	3.763000	0.55257	1.213000	0.43380	0.655000	0.94253	CTG		0.348	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
AP1AR	55435	broad.mit.edu	37	4	113189458	113189458	+	Missense_Mutation	SNP	G	G	A	rs367798505		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:113189458G>A	ENST00000274000.5	+	10	1157	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	AP1AR_ENST00000309703.6_Missense_Mutation_p.E235K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	268					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)	p.E268K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TGTTAGTGCCGAAATGGATGA	0.408																																					p.E268K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	4						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	121.0	110.0	114.0		703,802	5.3	1.0	4		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AP1AR	NM_001128426.1,NM_018569.4	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	235/270,268/303	113189458	1,13005	2203	4300	6503	113408907	SO:0001583	missense	55435	exon10			AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.802G>A	4.37:g.113189458G>A	ENSP00000274000:p.Glu268Lys	Somatic		Capture	Illumina HiSeq	Phase_I	113408907	NM_018569	B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019545	0.75275	0.0	1.16E-4	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.49432	0.78;0.79	5.27	5.27	0.74061	.	0.237652	0.43110	D	0.000611	T	0.53594	0.1806	L	0.60455	1.87	0.38866	D	0.956588	D;D	0.59767	0.986;0.975	P;B	0.47705	0.555;0.311	T	0.61662	-0.7017	10	0.66056	D	0.02	-16.0507	17.4248	0.87524	0.0:0.0:1.0:0.0	.	235;268	Q63HQ0-2;Q63HQ0	.;AP1AR_HUMAN	K	268;235	ENSP00000274000:E268K;ENSP00000309023:E235K	ENSP00000274000:E268K	E	+	1	0	AP1AR	113408907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.625000	0.74248	2.609000	0.88269	0.650000	0.86243	GAA		0.408	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569	
ALPK1	80216	broad.mit.edu	37	4	113353573	113353573	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:113353573C>A	ENST00000458497.1	+	11	3149	c.2870C>A	c.(2869-2871)tCt>tAt	p.S957Y	ALPK1_ENST00000504176.2_Missense_Mutation_p.S879Y|ALPK1_ENST00000177648.9_Missense_Mutation_p.S957Y	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	957	Ser-rich.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S957Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGTGGGAGTTCTTGGGTTTCA	0.507																																					p.S957Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2870A	4						.						77.0	75.0	76.0					4																	113353573		2203	4300	6503	113573022	SO:0001583	missense	80216	exon11			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2870C>A	4.37:g.113353573C>A	ENSP00000398048:p.Ser957Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	113573022	NM_025144	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326008	0.41197	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.03982	3.82;3.82;3.74	5.47	5.47	0.80525	.	0.353829	0.27126	N	0.020812	T	0.21062	0.0507	M	0.72894	2.215	0.31563	N	0.657228	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.972;0.991	T	0.01492	-1.1341	10	0.66056	D	0.02	-11.4195	15.8938	0.79322	0.0:0.8554:0.1446:0.0	.	879;879;957	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	Y	957;957;879	ENSP00000398048:S957Y;ENSP00000177648:S957Y;ENSP00000426044:S879Y	ENSP00000177648:S957Y	S	+	2	0	ALPK1	113573022	0.983000	0.35010	0.086000	0.20670	0.141000	0.21300	2.840000	0.48215	2.558000	0.86282	0.655000	0.94253	TCT		0.507	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
ZGRF1	55345	broad.mit.edu	37	4	113538953	113538953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:113538953C>A	ENST00000505019.1	-	6	2370	c.2245G>T	c.(2245-2247)Gaa>Taa	p.E749*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.E749*|C4orf21_ENST00000445203.2_Nonsense_Mutation_p.E718*	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		749						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E749*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCAATACATTCATAGTGATTC	0.338																																					p.E749X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2245T	4						.						85.0	90.0	89.0					4																	113538953		2203	4300	6503	113758402	SO:0001587	stop_gained	55345	exon6																														ENST00000505019.1:c.2245G>T	4.37:g.113538953C>A	ENSP00000424737:p.Glu749*	Somatic		Capture	Illumina HiSeq	Phase_I	113758402	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	C	38	6.750884	0.97813	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	.	.	.	5.76	4.05	0.47172	.	1.080660	0.07054	N	0.832543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.1134	10.2526	0.43377	0.0:0.8467:0.0:0.1533	.	.	.	.	X	749;749;718	.	ENSP00000309095:E749X	E	-	1	0	C4orf21	113758402	0.000000	0.05858	0.003000	0.11579	0.276000	0.26787	0.450000	0.21762	0.796000	0.33947	0.655000	0.94253	GAA		0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
ANK2	287	broad.mit.edu	37	4	114279759	114279759	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:114279759T>G	ENST00000357077.4	+	38	10038	c.9985T>G	c.(9985-9987)Ttt>Gtt	p.F3329V	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.F3296V|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3329					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.F3329V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTGAAGATTTTCTATCCAG	0.448																																					p.F3329V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9985G	4						.						103.0	107.0	106.0					4																	114279759		2203	4300	6503	114499208	SO:0001583	missense	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9985T>G	4.37:g.114279759T>G	ENSP00000349588:p.Phe3329Val	Somatic		Capture	Illumina HiSeq	Phase_I	114499208	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.431522	0.01108	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95821	-0.18;-0.19;-3.82	5.24	-0.57	0.11753	.	0.694155	0.12905	N	0.429415	D	0.87148	0.6105	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.73004	-0.4119	10	0.11182	T	0.66	.	2.8163	0.05457	0.2378:0.0678:0.3686:0.3258	.	3296;3329	Q01484;Q01484-4	ANK2_HUMAN;.	V	3329;3296;339	ENSP00000349588:F3329V;ENSP00000264366:F3296V;ENSP00000422498:F339V	ENSP00000264366:F3296V	F	+	1	0	ANK2	114499208	0.022000	0.18835	0.001000	0.08648	0.251000	0.25915	1.040000	0.30278	-0.306000	0.08818	0.377000	0.23210	TTT		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ARSJ	79642	broad.mit.edu	37	4	114824707	114824707	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:114824707C>T	ENST00000315366.7	-	2	1389	c.523G>A	c.(523-525)Gga>Aga	p.G175R	ARSJ_ENST00000541197.1_Missense_Mutation_p.G175R	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	175					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G175R(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TGCCATTTTCCGACCATATGC	0.433																																					p.G175R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	4						.						212.0	190.0	197.0					4																	114824707		1893	4124	6017	115044156	SO:0001583	missense	79642	exon2				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.523G>A	4.37:g.114824707C>T	ENSP00000320219:p.Gly175Arg	Somatic		Capture	Illumina HiSeq	Phase_I	115044156	NM_024590	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460853	0.84317	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.98264	-4.83;-4.83	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	D	0.97598	1.0121	10	0.87932	D	0	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	175;175	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	R	175	ENSP00000320219:G175R;ENSP00000438836:G175R	ENSP00000320219:G175R	G	-	1	0	ARSJ	115044156	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.720000	0.84759	2.573000	0.86826	0.655000	0.94253	GGA		0.433	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590	
UGT8	7368	broad.mit.edu	37	4	115586857	115586857	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:115586857G>T	ENST00000310836.6	+	4	1509	c.987G>T	c.(985-987)aaG>aaT	p.K329N	UGT8_ENST00000394511.3_Missense_Mutation_p.K329N	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	329					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.K329N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCAAACCAAAGAATCTAGGAA	0.348																																					p.K329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G987T	4						.						133.0	126.0	128.0					4																	115586857		2203	4300	6503	115806306	SO:0001583	missense	7368	exon4			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.987G>T	4.37:g.115586857G>T	ENSP00000311648:p.Lys329Asn	Somatic		Capture	Illumina HiSeq	Phase_I	115806306	NM_001128174	B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674923	0.29783	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.59502	0.26;0.26	5.56	1.97	0.26223	.	0.507707	0.23696	N	0.045475	T	0.37758	0.1015	N	0.16833	0.445	0.37953	D	0.932716	B	0.06786	0.001	B	0.13407	0.009	T	0.14062	-1.0486	10	0.41790	T	0.15	.	8.8944	0.35455	0.3488:0.0:0.6512:0.0	.	329	Q16880	CGT_HUMAN	N	329	ENSP00000311648:K329N;ENSP00000378019:K329N	ENSP00000311648:K329N	K	+	3	2	UGT8	115806306	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	1.833000	0.39161	0.057000	0.16193	-0.766000	0.03442	AAG		0.348	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
NDST3	9348	broad.mit.edu	37	4	118975200	118975200	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:118975200G>T	ENST00000296499.5	+	2	538	c.135G>T	c.(133-135)gaG>gaT	p.E45D	NDST3_ENST00000433996.2_Missense_Mutation_p.E45D	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	45	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.E45D(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AACTCTCTGAGACGGCTTCAG	0.433																																					p.E45D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G135T	4						.						121.0	117.0	118.0					4																	118975200		2203	4300	6503	119194648	SO:0001583	missense	9348	exon2			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.135G>T	4.37:g.118975200G>T	ENSP00000296499:p.Glu45Asp	Somatic		Capture	Illumina HiSeq	Phase_I	119194648	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	5.001	0.185862	0.09495	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.44881	1.24;0.91	5.67	0.368	0.16146	.	0.152992	0.64402	D	0.000019	T	0.29355	0.0731	L	0.42245	1.32	0.09310	N	0.999999	B;B;P	0.48503	0.0;0.0;0.911	B;B;P	0.46339	0.001;0.004;0.513	T	0.18366	-1.0339	10	0.13470	T	0.59	.	2.9896	0.05979	0.3391:0.1127:0.4338:0.1145	.	45;45;45	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	D	45	ENSP00000296499:E45D;ENSP00000396625:E45D	ENSP00000296499:E45D	E	+	3	2	NDST3	119194648	0.077000	0.21312	0.058000	0.19502	0.667000	0.39255	0.289000	0.18957	0.070000	0.16634	-0.145000	0.13849	GAG		0.433	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
NDST3	9348	broad.mit.edu	37	4	119064810	119064810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:119064810G>T	ENST00000296499.5	+	6	1913	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.E423*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	504	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.E504*(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCAAGGAGGAGAACTTTTCTT	0.428																																					p.E504X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1510T	4						.						68.0	67.0	67.0					4																	119064810		2203	4300	6503	119284258	SO:0001587	stop_gained	9348	exon6			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1510G>T	4.37:g.119064810G>T	ENSP00000296499:p.Glu504*	Somatic		Capture	Illumina HiSeq	Phase_I	119284258	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Nonsense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937297	0.98571	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7213	0.91694	0.0:0.0:1.0:0.0	.	.	.	.	X	504;423	.	ENSP00000296499:E504X	E	+	1	0	NDST3	119284258	1.000000	0.71417	0.974000	0.42286	0.886000	0.51366	9.680000	0.98651	2.473000	0.83533	0.655000	0.94253	GAA		0.428	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
USP53	54532	broad.mit.edu	37	4	120212331	120212331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:120212331G>T	ENST00000274030.6	+	18	3442	c.2263G>T	c.(2263-2265)Gaa>Taa	p.E755*	USP53_ENST00000450251.1_Nonsense_Mutation_p.E755*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.E754*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CTTTAGAAAAGAACTCAGGAA	0.303																																					p.E755X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2263T	4						.						32.0	29.0	30.0					4																	120212331		1784	4050	5834	120431779	SO:0001587	stop_gained	54532	exon17			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2263G>T	4.37:g.120212331G>T	ENSP00000274030:p.Glu755*	Somatic		Capture	Illumina HiSeq	Phase_I	120431779	NM_019050		Nonsense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	41	9.009843	0.99035	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.39	3.58	0.41010	.	0.710389	0.14090	N	0.342075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.5365	9.4483	0.38710	0.0803:0.1458:0.7738:0.0	.	.	.	.	X	755	.	ENSP00000274030:E755X	E	+	1	0	USP53	120431779	0.997000	0.39634	0.945000	0.38365	0.484000	0.33280	1.264000	0.33015	1.358000	0.45922	0.563000	0.77884	GAA		0.303	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
FABP2	2169	broad.mit.edu	37	4	120241935	120241935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:120241935C>A	ENST00000274024.3	-	2	417	c.130G>T	c.(130-132)Gaa>Taa	p.E44*		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	44					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.E44*(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	TTATTTCCTTCTTGTGTAATT	0.338																																					p.E44X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G130T	4						.						90.0	99.0	96.0					4																	120241935		2202	4300	6502	120461383	SO:0001587	stop_gained	2169	exon2			J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.130G>T	4.37:g.120241935C>A	ENSP00000274024:p.Glu44*	Somatic		Capture	Illumina HiSeq	Phase_I	120461383	NM_000134	Q2NKJ1	Nonsense_Mutation	SNP	ENST00000274024.3	37	CCDS3712.1	.	.	.	.	.	.	.	.	.	.	C	37	6.173941	0.97348	.	.	ENSG00000145384	ENST00000274024	.	.	.	5.28	4.24	0.50183	.	0.670270	0.16347	N	0.218403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.4464	0.38699	0.0:0.7884:0.0:0.2116	.	.	.	.	X	44	.	ENSP00000274024:E44X	E	-	1	0	FABP2	120461383	0.985000	0.35326	0.996000	0.52242	0.993000	0.82548	1.734000	0.38166	2.467000	0.83353	0.650000	0.86243	GAA		0.338	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134	
IL2	3558	broad.mit.edu	37	4	123374972	123374972	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:123374972C>T	ENST00000226730.4	-	3	528	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	82					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)	p.E82K(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	GGTTTGAGTTCTTCTTCTAGA	0.358			T	TNFRSF17	intestinal T-cell lymphoma																																p.E82K			Dom	yes		4	4q26-q27	3558	interleukin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	4						.						127.0	125.0	125.0					4																	123374972		2202	4300	6502	123594422	SO:0001583	missense	3558	exon3			U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.244G>A	4.37:g.123374972C>T	ENSP00000226730:p.Glu82Lys	Somatic		Capture	Illumina HiSeq	Phase_I	123594422	NM_000586	P01585	Missense_Mutation	SNP	ENST00000226730.4	37	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202389	0.79127	.	.	ENSG00000109471	ENST00000226730	.	.	.	4.1	4.1	0.47936	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.47852	D	0.000211	T	0.77452	0.4132	M	0.78049	2.395	0.37261	D	0.906985	D	0.89917	1.0	D	0.97110	1.0	T	0.82370	-0.0491	9	0.87932	D	0	-19.652	12.1372	0.53979	0.0:1.0:0.0:0.0	.	82	P60568	IL2_HUMAN	K	82	.	ENSP00000226730:E82K	E	-	1	0	IL2	123594422	1.000000	0.71417	0.973000	0.42090	0.931000	0.56810	2.952000	0.49097	2.587000	0.87381	0.460000	0.39030	GAA		0.358	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2		
SPATA5	166378	broad.mit.edu	37	4	123859361	123859361	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:123859361G>T	ENST00000274008.4	+	8	1484	c.1415G>T	c.(1414-1416)aGa>aTa	p.R472I	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	472					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.R472I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTGGAAAAAAGAGTTGTGGCT	0.368																																					p.R472I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1415T	4						.						182.0	182.0	182.0					4																	123859361		2203	4300	6503	124078811	SO:0001583	missense	166378	exon8			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1415G>T	4.37:g.123859361G>T	ENSP00000274008:p.Arg472Ile	Somatic		Capture	Illumina HiSeq	Phase_I	124078811	NM_145207	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594108	0.66219	.	.	ENSG00000145375	ENST00000274008	D	0.94092	-3.35	5.65	5.65	0.86999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98063	1.0394	10	0.87932	D	0	-15.3026	19.717	0.96124	0.0:0.0:1.0:0.0	.	472;472	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	I	472	ENSP00000274008:R472I	ENSP00000274008:R472I	R	+	2	0	SPATA5	124078811	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	9.109000	0.94291	2.667000	0.90743	0.650000	0.86243	AGA		0.368	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207	
ANKRD50	57182	broad.mit.edu	37	4	125592223	125592223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:125592223G>A	ENST00000504087.1	-	4	3246	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R558*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	737								p.R737*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAGCACCTCGATCAATTAAA	0.458																																					p.R558X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1672T	4						.						122.0	108.0	112.0					4																	125592223		2203	4300	6503	125811673	SO:0001587	stop_gained	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2209C>T	4.37:g.125592223G>A	ENSP00000425658:p.Arg737*	Somatic		Capture	Illumina HiSeq	Phase_I	125811673	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	44	11.211978	0.99531	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.42	5.42	0.78866	.	0.067107	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	19.4006	0.94627	0.0:0.0:1.0:0.0	.	.	.	.	X	737;558	.	ENSP00000425658:R737X	R	-	1	2	ANKRD50	125811673	1.000000	0.71417	0.882000	0.34594	0.036000	0.12997	4.558000	0.60789	2.820000	0.97059	0.650000	0.86243	CGA		0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
ANKRD50	57182	broad.mit.edu	37	4	125593462	125593462	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:125593462G>A	ENST00000504087.1	-	4	2007	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R145C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	324								p.R324C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGGATGTCACGAATTTCTCTT	0.338																																					p.R145C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C433T	4						.						54.0	58.0	57.0					4																	125593462		2203	4299	6502	125812912	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.970C>T	4.37:g.125593462G>A	ENSP00000425658:p.Arg324Cys	Somatic		Capture	Illumina HiSeq	Phase_I	125812912	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427632	0.62733	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69040	-0.37;-0.34	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.78471	-0.2191	10	0.87932	D	0	.	19.4269	0.94746	0.0:0.0:1.0:0.0	.	324	Q9ULJ7	ANR50_HUMAN	C	324;145	ENSP00000425658:R324C;ENSP00000425355:R145C	ENSP00000425658:R324C	R	-	1	0	ANKRD50	125812912	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.060000	0.93907	2.822000	0.97130	0.650000	0.86243	CGT		0.338	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126239174	126239174	+	Silent	SNP	C	C	A	rs375970737		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:126239174C>A	ENST00000394329.3	+	1	1621	c.1608C>A	c.(1606-1608)tcC>tcA	p.S536S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S536S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACTGGGTCCTCTGGGGGCC	0.537											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S536S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1608A	4						.						50.0	54.0	53.0					4																	126239174		2159	4272	6431	126458624	SO:0001819	synonymous_variant	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1608C>A	4.37:g.126239174C>A		Somatic	1548	Capture	Illumina HiSeq	Phase_I	126458624	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.537	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126242166	126242166	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:126242166G>A	ENST00000394329.3	+	1	4613	c.4600G>A	c.(4600-4602)Gcc>Acc	p.A1534T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1534	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1534T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCACAAAACGCCCTTGCTGC	0.433																																					p.A1534T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4600A	4						.						161.0	148.0	152.0					4																	126242166		1959	4158	6117	126461616	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4600G>A	4.37:g.126242166G>A	ENSP00000377862:p.Ala1534Thr	Somatic		Capture	Illumina HiSeq	Phase_I	126461616	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453511	0.84209	.	.	ENSG00000196159	ENST00000394329	T	0.60672	0.17	4.35	4.35	0.52113	Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.62612	0.2442	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59220	-0.7495	10	0.23302	T	0.38	.	17.4402	0.87562	0.0:0.0:1.0:0.0	.	1534	Q6V0I7	FAT4_HUMAN	T	1534	ENSP00000377862:A1534T	ENSP00000377862:A1534T	A	+	1	0	FAT4	126461616	1.000000	0.71417	0.970000	0.41538	0.906000	0.53458	7.553000	0.82203	2.420000	0.82092	0.655000	0.94253	GCC		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126242490	126242490	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:126242490G>A	ENST00000394329.3	+	1	4937	c.4924G>A	c.(4924-4926)Gaa>Aaa	p.E1642K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1642	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1642K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGGAAGGAGAACCCATTGG	0.418																																					p.E1642K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4924A	4						.						84.0	86.0	85.0					4																	126242490		1856	4084	5940	126461940	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4924G>A	4.37:g.126242490G>A	ENSP00000377862:p.Glu1642Lys	Somatic		Capture	Illumina HiSeq	Phase_I	126461940	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.40	3.114052	0.56398	.	.	ENSG00000196159	ENST00000394329	T	0.73897	-0.79	4.49	4.49	0.54785	Cadherin (2);Cadherin-like (1);	0.000000	0.34652	U	0.003783	T	0.58323	0.2114	N	0.20530	0.585	0.80722	D	1	B	0.30406	0.278	B	0.27887	0.084	T	0.56908	-0.7901	10	0.09338	T	0.73	.	17.3959	0.87445	0.0:0.0:1.0:0.0	.	1642	Q6V0I7	FAT4_HUMAN	K	1642	ENSP00000377862:E1642K	ENSP00000377862:E1642K	E	+	1	0	FAT4	126461940	1.000000	0.71417	0.952000	0.39060	0.873000	0.50193	6.563000	0.73964	2.345000	0.79718	0.650000	0.86243	GAA		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126336120	126336120	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:126336120A>G	ENST00000394329.3	+	5	6015	c.6002A>G	c.(6001-6003)aAa>aGa	p.K2001R	FAT4_ENST00000335110.5_Missense_Mutation_p.K299R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2001	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K2001R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTGTACTCAAAGTCCTAAAA	0.433																																					p.K2001R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6002G	4						.						133.0	137.0	135.0					4																	126336120		2203	4300	6503	126555570	SO:0001583	missense	79633	exon5			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6002A>G	4.37:g.126336120A>G	ENSP00000377862:p.Lys2001Arg	Somatic		Capture	Illumina HiSeq	Phase_I	126555570	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	3.435	-0.115345	0.06881	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.1	2.7	0.31948	Cadherin (4);Cadherin-like (1);	0.411104	0.17307	U	0.179026	T	0.00637	0.0021	N	0.00808	-1.17	0.31789	N	0.629942	B;B	0.13594	0.002;0.008	B;B	0.14023	0.009;0.01	T	0.32188	-0.9916	10	0.23302	T	0.38	.	2.8664	0.05603	0.4514:0.2943:0.2543:0.0	.	299;2001	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	R	2001;299	ENSP00000377862:K2001R;ENSP00000335169:K299R	ENSP00000335169:K299R	K	+	2	0	FAT4	126555570	1.000000	0.71417	0.599000	0.28851	0.198000	0.23893	1.966000	0.40481	0.769000	0.33313	0.455000	0.32223	AAA		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126372196	126372196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:126372196G>A	ENST00000394329.3	+	9	10038	c.10025G>A	c.(10024-10026)cGa>cAa	p.R3342Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R1640Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3342	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3342Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTAATAGTCGAAAGAAGGGT	0.413																																					p.R3342Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10025A	4						.						103.0	105.0	104.0					4																	126372196		2203	4300	6503	126591646	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10025G>A	4.37:g.126372196G>A	ENSP00000377862:p.Arg3342Gln	Somatic		Capture	Illumina HiSeq	Phase_I	126591646	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513946	0.64522	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51325	0.71;0.71	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.36932	U	0.002340	T	0.47097	0.1427	N	0.04162	-0.26	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.99;0.989;0.996	T	0.50276	-0.8847	10	0.15066	T	0.55	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1640;3342;3342	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	3342;1640	ENSP00000377862:R3342Q;ENSP00000335169:R1640Q	ENSP00000335169:R1640Q	R	+	2	0	FAT4	126591646	1.000000	0.71417	0.360000	0.25837	0.355000	0.29361	9.666000	0.98612	2.542000	0.85734	0.655000	0.94253	CGA		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126373340	126373340	+	Silent	SNP	G	G	A	rs148631233		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:126373340G>A	ENST00000394329.3	+	9	11182	c.11169G>A	c.(11167-11169)aaG>aaA	p.K3723K	FAT4_ENST00000335110.5_Silent_p.K2021K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3723					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K3723K(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACAGTAAAGGACTTCTTGA	0.463																																					p.K3723K												.	.	4	Substitution - coding silent(4)	large_intestine(2)|skin(2)	c.G11169A	4						.						171.0	160.0	164.0					4																	126373340		2203	4300	6503	126592790	SO:0001819	synonymous_variant	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11169G>A	4.37:g.126373340G>A		Somatic		Capture	Illumina HiSeq	Phase_I	126592790	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
SLC25A31	83447	broad.mit.edu	37	4	128694702	128694702	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:128694702C>T	ENST00000281154.4	+	6	1089	c.921C>T	c.(919-921)ttC>ttT	p.F307F		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	307					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.F307F(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTAAAGAATTCTTTCATATTG	0.353																																					p.F307F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	4						.						95.0	100.0	98.0					4																	128694702		2203	4300	6503	128914152	SO:0001819	synonymous_variant	83447	exon6			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.921C>T	4.37:g.128694702C>T		Somatic		Capture	Illumina HiSeq	Phase_I	128914152	NM_031291		Silent	SNP	ENST00000281154.4	37	CCDS3733.1																																																																																				0.353	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
ELF2	1998	broad.mit.edu	37	4	139980635	139980635	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:139980635C>T	ENST00000394235.2	-	10	1750	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	ELF2_ENST00000510408.1_Silent_p.A356A|ELF2_ENST00000379550.1_Silent_p.A428A|ELF2_ENST00000358635.3_Silent_p.A368A|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Silent_p.A416A|ELF2_ENST00000379549.2_Silent_p.A339A	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.A416A(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TTGGAGAGGTCGCTGTTGTTG	0.428																																					p.A368A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1104A	4						.						80.0	73.0	76.0					4																	139980635		2203	4297	6500	140200085	SO:0001819	synonymous_variant	1998	exon7			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1248G>A	4.37:g.139980635C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140200085	NM_006874		Silent	SNP	ENST00000394235.2	37	CCDS3744.1																																																																																				0.428	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874	
NAA15	80155	broad.mit.edu	37	4	140306065	140306065	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:140306065G>A	ENST00000296543.5	+	18	2558	c.2235G>A	c.(2233-2235)acG>acA	p.T745T	NAA15_ENST00000398947.1_Silent_p.T744T|NAA15_ENST00000515576.1_5'Flank	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	745	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.T745T(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGGAGCAACGAATCCAAAGA	0.284																																					p.T745T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2235A	4						.						53.0	51.0	52.0					4																	140306065		1797	4066	5863	140525515	SO:0001819	synonymous_variant	80155	exon18			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2235G>A	4.37:g.140306065G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140525515	NM_057175	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	CCDS43270.1																																																																																				0.284	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	
MAML3	55534	broad.mit.edu	37	4	140640909	140640909	+	Silent	SNP	C	C	T	rs375651551		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:140640909C>T	ENST00000509479.2	-	5	3841	c.2985G>A	c.(2983-2985)ccG>ccA	p.P995P	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.P995P(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGGTCAGTCTCGGCTGCCCAG	0.602																																					p.P991P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2973A	4						.	C	,,	0,4168		0,0,2084	43.0	46.0	45.0		,,2985	-4.7	0.9	4		45	1,8433		0,1,4216	no	intron,intron,coding-synonymous	MGST2,MAML3	NM_001204366.1,NM_001204367.1,NM_018717.4	,,	0,1,6300	TT,TC,CC		0.0119,0.0,0.0079	,,	,,995/1139	140640909	1,12601	2084	4217	6301	140860359	SO:0001819	synonymous_variant	55534	exon6			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2985G>A	4.37:g.140640909C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140860359	NM_018717		Silent	SNP	ENST00000509479.2	37	CCDS54805.1																																																																																				0.602	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2		
RNF150	57484	broad.mit.edu	37	4	141888889	141888889	+	Missense_Mutation	SNP	G	G	A	rs267600025		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:141888889G>A	ENST00000515673.2	-	2	656	c.623C>T	c.(622-624)tCg>tTg	p.S208L	RNF150_ENST00000379512.2_Missense_Mutation_p.S67L|RNF150_ENST00000420921.2_Missense_Mutation_p.S67L|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Missense_Mutation_p.S208L			Q9ULK6	RN150_HUMAN	ring finger protein 150	208						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S208L(2)|p.S117L(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AAACACAACCGAAGTGCGGCT	0.463																																					p.S208L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C623T	4						.						248.0	222.0	231.0					4																	141888889		2203	4300	6503	142108339	SO:0001583	missense	57484	exon2			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.623C>T	4.37:g.141888889G>A	ENSP00000425840:p.Ser208Leu	Somatic		Capture	Illumina HiSeq	Phase_I	142108339	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587648	0.96590	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.16597	2.33;2.33;3.2;3.22;2.39	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.981;0.995	T	0.18777	-1.0326	10	0.38643	T	0.18	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	208;208	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	L	67;67;208;208;39	ENSP00000368827:S67L;ENSP00000394581:S67L;ENSP00000425840:S208L;ENSP00000425568:S208L;ENSP00000425947:S39L	ENSP00000368827:S67L	S	-	2	0	RNF150	142108339	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	TCG		0.463	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
ZNF718	255403	broad.mit.edu	37	4	155801	155801	+	lincRNA	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155801G>T	ENST00000510175.1	+	0	1236							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATAAACATAAGAAAATTCACA	0.363																																					p.K442N												.	.	0			c.G1326T	4						.						30.0	33.0	32.0					4																	155801		2067	4233	6300	145801			255403	exon4			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155801G>T		Somatic		Capture	Illumina HiSeq	Phase_I	145801	NM_001039127	Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37																																																																																					0.363	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127	
INPP4B	8821	broad.mit.edu	37	4	143003277	143003277	+	Missense_Mutation	SNP	G	G	A	rs369778611		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:143003277G>A	ENST00000513000.1	-	26	2982	c.2549C>T	c.(2548-2550)tCg>tTg	p.S850L	INPP4B_ENST00000509777.1_Missense_Mutation_p.S850L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S850L|INPP4B_ENST00000508116.1_Missense_Mutation_p.S850L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S850L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	850					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.S850L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACTGACATCGATGTCCTGTC	0.418																																					p.S850L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2549T	4						.	G	LEU/SER,LEU/SER	0,4406		0,0,2203	160.0	140.0	147.0		2549,2549	5.8	0.9	4		147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INPP4B	NM_001101669.1,NM_003866.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	850/925,850/925	143003277	1,13005	2203	4300	6503	143222727	SO:0001583	missense	8821	exon26			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2549C>T	4.37:g.143003277G>A	ENSP00000425487:p.Ser850Leu	Somatic		Capture	Illumina HiSeq	Phase_I	143222727	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386394	0.95967	0.0	1.16E-4	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.25749	1.79;1.79;1.79;1.79;1.78;1.8	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.51466	-0.8702	10	0.59425	D	0.04	.	20.1142	0.97922	0.0:0.0:1.0:0.0	.	850	O15327	INP4B_HUMAN	L	850;850;850;850;850;665	ENSP00000425487:S850L;ENSP00000262992:S850L;ENSP00000308441:S850L;ENSP00000423954:S850L;ENSP00000422793:S850L;ENSP00000426207:S665L	ENSP00000262992:S850L	S	-	2	0	INPP4B	143222727	1.000000	0.71417	0.860000	0.33809	0.986000	0.74619	9.476000	0.97823	2.765000	0.95021	0.650000	0.86243	TCG		0.418	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
ZNF827	152485	broad.mit.edu	37	4	146700611	146700611	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:146700611G>T	ENST00000508784.1	-	9	2663	c.2436C>A	c.(2434-2436)ttC>ttA	p.F812L	ZNF827_ENST00000379448.4_Missense_Mutation_p.F812L|ZNF827_ENST00000513320.1_Missense_Mutation_p.F462L			Q17R98	ZN827_HUMAN	zinc finger protein 827	812					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.F812L(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTGGTCATTGAATTTCCAGG	0.468																																					p.F812L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2436A	4						.						114.0	104.0	107.0					4																	146700611		2203	4300	6503	146920061	SO:0001583	missense	152485	exon9			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2436C>A	4.37:g.146700611G>T	ENSP00000421863:p.Phe812Leu	Somatic		Capture	Illumina HiSeq	Phase_I	146920061	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	G	11.09	1.537750	0.27475	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.06294	3.41;3.32;3.44	5.76	5.76	0.90799	.	0.053759	0.85682	D	0.000000	T	0.03783	0.0107	N	0.04880	-0.145	0.40531	D	0.980937	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.47249	-0.9132	10	0.46703	T	0.11	-20.3183	10.9785	0.47480	0.1127:0.0:0.8873:0.0	.	462;812;812	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	L	812;462;812;811;462	ENSP00000421863:F812L;ENSP00000423130:F462L;ENSP00000368761:F812L	ENSP00000281318:F811L	F	-	3	2	ZNF827	146920061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.698000	0.37794	2.730000	0.93505	0.591000	0.81541	TTC		0.468	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
SLC10A7	84068	broad.mit.edu	37	4	147215241	147215241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:147215241G>A	ENST00000507030.1	-	8	561	c.562C>T	c.(562-564)Cga>Tga	p.R188*	SLC10A7_ENST00000394062.3_Nonsense_Mutation_p.R188*|SLC10A7_ENST00000432059.2_Nonsense_Mutation_p.R175*|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000335472.7_Nonsense_Mutation_p.R188*			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	188					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.R188*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					ATGTATCTTCGGACAATCTGA	0.428																																					p.R188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C562T	4						.						78.0	71.0	73.0					4																	147215241		2203	4300	6503	147434691	SO:0001587	stop_gained	84068	exon8			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.562C>T	4.37:g.147215241G>A	ENSP00000421275:p.Arg188*	Somatic		Capture	Illumina HiSeq	Phase_I	147434691	NM_001029998	A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Nonsense_Mutation	SNP	ENST00000507030.1	37	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	G	37	6.484429	0.97603	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062	.	.	.	5.98	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3944	16.3627	0.83275	0.0:0.0:0.8671:0.1329	.	.	.	.	X	175;188;188;188	.	ENSP00000334594:R188X	R	-	1	2	SLC10A7	147434691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.994000	0.70623	1.471000	0.48121	0.650000	0.86243	CGA		0.428	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128	
EDNRA	1909	broad.mit.edu	37	4	148441051	148441051	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:148441051C>A	ENST00000324300.5	+	3	984	c.469C>A	c.(469-471)Ctt>Att	p.L157I	EDNRA_ENST00000339690.5_Intron|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000511804.1_5'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	157					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L157I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGGCGTATTTCTTTGCAAGCT	0.507																																					p.L157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	4						.						222.0	204.0	210.0					4																	148441051		2203	4300	6503	148660501	SO:0001583	missense	1909	exon3			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.469C>A	4.37:g.148441051C>A	ENSP00000315011:p.Leu157Ile	Somatic		Capture	Illumina HiSeq	Phase_I	148660501	NM_001957	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573769	0.65765	.	.	ENSG00000151617	ENST00000394047;ENST00000324300	T	0.40476	1.03	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.40543	1.245	0.80722	D	1	P	0.36086	0.536	P	0.46885	0.53	T	0.19192	-1.0313	10	0.20519	T	0.43	-19.121	18.9432	0.92612	0.0:1.0:0.0:0.0	.	157	P25101	EDNRA_HUMAN	I	157	ENSP00000315011:L157I	ENSP00000315011:L157I	L	+	1	0	EDNRA	148660501	1.000000	0.71417	0.936000	0.37596	0.984000	0.73092	3.286000	0.51724	2.572000	0.86782	0.591000	0.81541	CTT		0.507	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1		
TMEM184C	55751	broad.mit.edu	37	4	148554110	148554110	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:148554110C>T	ENST00000296582.3	+	8	1410	c.836C>T	c.(835-837)aCg>aTg	p.T279M	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	279						integral component of membrane (GO:0016021)		p.T279M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GAAAAGCATACGTGGGAATGG	0.383																																					p.T279M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C836T	4						.						146.0	132.0	137.0					4																	148554110		2203	4300	6503	148773560	SO:0001583	missense	55751	exon8			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.836C>T	4.37:g.148554110C>T	ENSP00000296582:p.Thr279Met	Somatic		Capture	Illumina HiSeq	Phase_I	148773560	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059423	0.76074	.	.	ENSG00000164168	ENST00000296582	T	0.43688	0.94	5.6	5.6	0.85130	.	0.094859	0.64402	D	0.000001	T	0.58694	0.2140	M	0.79805	2.47	0.80722	D	1	D	0.61080	0.989	P	0.50270	0.636	T	0.60772	-0.7197	10	0.42905	T	0.14	-6.3494	19.961	0.97250	0.0:1.0:0.0:0.0	.	279	Q9NVA4	T184C_HUMAN	M	279	ENSP00000296582:T279M	ENSP00000296582:T279M	T	+	2	0	TMEM184C	148773560	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.538000	0.82048	2.785000	0.95823	0.650000	0.86243	ACG		0.383	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	
NR3C2	4306	broad.mit.edu	37	4	149073664	149073664	+	Silent	SNP	C	C	T	rs368406158		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:149073664C>T	ENST00000358102.3	-	6	2828	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.T826T|NR3C2_ENST00000355292.3_Silent_p.T826T|NR3C2_ENST00000344721.4_Silent_p.T822T|NR3C2_ENST00000512865.1_Silent_p.T705T|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	822	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T822T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATTGGCTGTTCGTATGTTTGT	0.363																																					p.T705T	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2115A	4						.	C	,	2,4404	4.2+/-10.8	0,2,2201	130.0	129.0	129.0		2466,2115	-0.3	1.0	4		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NR3C2	NM_000901.4,NM_001166104.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	822/985,705/868	149073664	2,13004	2203	4300	6503	149293114	SO:0001819	synonymous_variant	4306	exon5			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2466G>A	4.37:g.149073664C>T		Somatic		Capture	Illumina HiSeq	Phase_I	149293114	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	CCDS3772.1																																																																																				0.363	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
LRBA	987	broad.mit.edu	37	4	151774074	151774074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:151774074C>A	ENST00000357115.3	-	23	3031	c.2788G>T	c.(2788-2790)Gaa>Taa	p.E930*	LRBA_ENST00000535741.1_Nonsense_Mutation_p.E930*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.E930*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.E930*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	930						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E930*(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCAAGGTTTTCTTTGTGTATT	0.323																																					p.E930X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2788T	4						.						96.0	94.0	94.0					4																	151774074		2203	4300	6503	151993524	SO:0001587	stop_gained	987	exon23			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2788G>T	4.37:g.151774074C>A	ENSP00000349629:p.Glu930*	Somatic		Capture	Illumina HiSeq	Phase_I	151993524	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	46	12.316586	0.99656	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.65	5.65	0.86999	.	0.064056	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	.	.	.	X	930	.	ENSP00000349629:E930X	E	-	1	0	LRBA	151993524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.041000	0.76558	2.817000	0.96982	0.563000	0.77884	GAA		0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
KIAA0922	23240	broad.mit.edu	37	4	154524513	154524513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:154524513G>A	ENST00000409663.3	+	24	2747	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E900K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E816K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	899						integral component of membrane (GO:0016021)		p.E752K(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CATTCTCATGGAATTCATGAA	0.408																																					p.E899K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2695A	4						.						189.0	171.0	177.0					4																	154524513		2203	4300	6503	154743963	SO:0001583	missense	23240	exon24			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2695G>A	4.37:g.154524513G>A	ENSP00000386574:p.Glu899Lys	Somatic		Capture	Illumina HiSeq	Phase_I	154743963	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	33	5.238300	0.95240	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19938	2.38;2.11;2.38;2.11	6.17	6.17	0.99709	.	0.045076	0.85682	D	0.000000	T	0.47801	0.1465	M	0.67953	2.075	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.81914	0.995;0.98;0.872	T	0.05305	-1.0893	10	0.33940	T	0.23	-25.4315	20.8794	0.99867	0.0:0.0:1.0:0.0	.	816;900;899	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	899;816;900;677	ENSP00000386574:E899K;ENSP00000409663:E816K;ENSP00000386787:E900K;ENSP00000240487:E677K	ENSP00000240487:E677K	E	+	1	0	KIAA0922	154743963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.635000	0.91006	2.941000	0.99782	0.655000	0.94253	GAA		0.408	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
DCHS2	54798	broad.mit.edu	37	4	155156052	155156052	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155156052A>C	ENST00000357232.4	-	25	8386	c.8387T>G	c.(8386-8388)tTt>tGt	p.F2796C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2796					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2796C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATATCATTAAATACTGAGGC	0.383																																					p.F2796C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T8387G	4						.						117.0	119.0	118.0					4																	155156052		2203	4300	6503	155375502	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8387T>G	4.37:g.155156052A>C	ENSP00000349768:p.Phe2796Cys	Somatic		Capture	Illumina HiSeq	Phase_I	155375502	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998387	0.74818	.	.	ENSG00000197410	ENST00000357232	D	0.83673	-1.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.91405	0.7288	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92491	0.6000	10	0.87932	D	0	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	2796	Q6V1P9	PCD23_HUMAN	C	2796	ENSP00000349768:F2796C	ENSP00000349768:F2796C	F	-	2	0	DCHS2	155375502	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	9.339000	0.96797	2.203000	0.70933	0.460000	0.39030	TTT		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155157173	155157173	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155157173C>A	ENST00000357232.4	-	25	7265	c.7266G>T	c.(7264-7266)gaG>gaT	p.E2422D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2422	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2422D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAAATGGGCTCAAATTCAT	0.438																																					p.E2422D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7266T	4						.						85.0	84.0	84.0					4																	155157173		2203	4300	6503	155376623	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7266G>T	4.37:g.155157173C>A	ENSP00000349768:p.Glu2422Asp	Somatic		Capture	Illumina HiSeq	Phase_I	155376623	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	7.118	0.577337	0.13686	.	.	ENSG00000197410	ENST00000357232	T	0.60920	0.15	6.04	0.608	0.17569	Cadherin (3);Cadherin-like (1);	0.154651	0.44688	D	0.000438	T	0.39226	0.1070	L	0.35644	1.08	0.80722	D	1	B	0.16603	0.018	B	0.17433	0.018	T	0.08994	-1.0695	10	0.15499	T	0.54	.	6.9674	0.24631	0.0:0.3672:0.1535:0.4793	.	2422	Q6V1P9	PCD23_HUMAN	D	2422	ENSP00000349768:E2422D	ENSP00000349768:E2422D	E	-	3	2	DCHS2	155376623	0.660000	0.27420	0.997000	0.53966	0.753000	0.42808	-0.205000	0.09411	-0.065000	0.13021	-0.440000	0.05779	GAG		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155157414	155157414	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155157414T>C	ENST00000357232.4	-	25	7024	c.7025A>G	c.(7024-7026)gAt>gGt	p.D2342G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2342	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2342G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGACCAGCATCAAAATCCAG	0.403																																					p.D2342G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7025G	4						.						108.0	103.0	105.0					4																	155157414		2203	4300	6503	155376864	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7025A>G	4.37:g.155157414T>C	ENSP00000349768:p.Asp2342Gly	Somatic		Capture	Illumina HiSeq	Phase_I	155376864	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695131	0.48202	.	.	ENSG00000197410	ENST00000357232	T	0.74632	-0.86	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.92355	0.7574	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95418	0.8504	10	0.72032	D	0.01	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	2342	Q6V1P9	PCD23_HUMAN	G	2342	ENSP00000349768:D2342G	ENSP00000349768:D2342G	D	-	2	0	DCHS2	155376864	1.000000	0.71417	0.753000	0.31225	0.002000	0.02628	8.040000	0.89188	2.214000	0.71695	0.533000	0.62120	GAT		0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155161700	155161700	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155161700C>A	ENST00000357232.4	-	23	5982	c.5983G>T	c.(5983-5985)Gat>Tat	p.D1995Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1995	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1995Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATAGAAATCTTGAGAAAAC	0.413																																					p.D1995Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5983T	4						.						55.0	52.0	53.0					4																	155161700		2203	4300	6503	155381150	SO:0001583	missense	54798	exon23			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5983G>T	4.37:g.155161700C>A	ENSP00000349768:p.Asp1995Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	155381150	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877478	0.72294	.	.	ENSG00000197410	ENST00000357232	T	0.62105	0.05	5.69	5.69	0.88448	Cadherin (2);Cadherin-like (1);	0.079900	0.52532	D	0.000080	T	0.78972	0.4368	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.80951	-0.1153	10	0.46703	T	0.11	.	12.7502	0.57304	0.0:0.9244:0.0:0.0756	.	1995	Q6V1P9	PCD23_HUMAN	Y	1995	ENSP00000349768:D1995Y	ENSP00000349768:D1995Y	D	-	1	0	DCHS2	155381150	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.826000	0.55738	2.677000	0.91161	0.655000	0.94253	GAT		0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155219229	155219229	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155219229C>A	ENST00000357232.4	-	18	4871	c.4872G>T	c.(4870-4872)gaG>gaT	p.E1624D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1624	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1624D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGACTGGGTCTCTGCAAAAC	0.418																																					p.E1624D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4872T	4						.						76.0	78.0	77.0					4																	155219229		2203	4300	6503	155438679	SO:0001583	missense	54798	exon18			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4872G>T	4.37:g.155219229C>A	ENSP00000349768:p.Glu1624Asp	Somatic		Capture	Illumina HiSeq	Phase_I	155438679	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	0.553	-0.848593	0.02651	.	.	ENSG00000197410	ENST00000357232	T	0.61274	0.12	5.66	-1.04	0.10068	Cadherin (3);Cadherin-like (1);	0.222885	0.38778	N	0.001569	T	0.31888	0.0811	L	0.28344	0.845	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.08229	-1.0732	10	0.15066	T	0.55	.	3.0078	0.06034	0.1509:0.4684:0.1815:0.1992	.	1624	Q6V1P9	PCD23_HUMAN	D	1624	ENSP00000349768:E1624D	ENSP00000349768:E1624D	E	-	3	2	DCHS2	155438679	0.000000	0.05858	0.014000	0.15608	0.016000	0.09150	0.166000	0.16583	-0.155000	0.11098	0.650000	0.86243	GAG		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155219697	155219697	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155219697A>C	ENST00000357232.4	-	18	4403	c.4404T>G	c.(4402-4404)gtT>gtG	p.V1468V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1468	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1468V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCATCCAAAACTCTAACTT	0.468																																					p.V1468V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4404G	4						.						149.0	156.0	153.0					4																	155219697		2203	4300	6503	155439147	SO:0001819	synonymous_variant	54798	exon18			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4404T>G	4.37:g.155219697A>C		Somatic		Capture	Illumina HiSeq	Phase_I	155439147	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
FGA	2243	broad.mit.edu	37	4	155507816	155507816	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155507816C>T	ENST00000302053.3	-	5	843	c.765G>A	c.(763-765)ccG>ccA	p.P255P	FGA_ENST00000403106.3_Silent_p.P255P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	255					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.P255P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCTCATCTGCGGCATGTCTG	0.493																																					p.P255P	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G765A	4						.						132.0	139.0	137.0					4																	155507816		2203	4300	6503	155727266	SO:0001819	synonymous_variant	2243	exon5				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.765G>A	4.37:g.155507816C>T		Somatic		Capture	Illumina HiSeq	Phase_I	155727266	NM_021871	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	CCDS3787.1																																																																																				0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
FGG	2266	broad.mit.edu	37	4	155531264	155531264	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155531264C>T	ENST00000336098.3	-	5	525	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FGG_ENST00000407946.1_Missense_Mutation_p.E163K|FGG_ENST00000405164.1_Missense_Mutation_p.E163K|FGG_ENST00000404648.3_Missense_Mutation_p.E163K	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	163					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.E163K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTGCAAGGTTCCTGGCACTGT	0.368																																					p.E163K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	4						.						193.0	175.0	181.0					4																	155531264		2203	4300	6503	155750714	SO:0001583	missense	2266	exon5				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.487G>A	4.37:g.155531264C>T	ENSP00000336829:p.Glu163Lys	Somatic		Capture	Illumina HiSeq	Phase_I	155750714	NM_021870	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991134	0.74703	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.047210	0.85682	D	0.000000	T	0.73783	0.3631	M	0.68952	2.095	0.58432	D	0.999997	P;P;P;P	0.49783	0.7;0.901;0.901;0.928	B;P;P;B	0.48738	0.351;0.588;0.588;0.414	T	0.71401	-0.4604	10	0.27785	T	0.31	.	14.59	0.68356	0.0:0.7337:0.2663:0.0	.	163;163;163;163	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	K	163;163;163;163;60;60	ENSP00000384860:E163K;ENSP00000384101:E163K;ENSP00000336829:E163K;ENSP00000384552:E163K;ENSP00000407562:E60K;ENSP00000377429:E60K	ENSP00000336829:E163K	E	-	1	0	FGG	155750714	1.000000	0.71417	0.983000	0.44433	0.863000	0.49368	2.689000	0.46993	2.724000	0.93272	0.655000	0.94253	GAA		0.368	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
RBM46	166863	broad.mit.edu	37	4	155719167	155719167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:155719167G>T	ENST00000281722.3	+	3	591	c.356G>T	c.(355-357)aGa>aTa	p.R119I	RBM46_ENST00000510397.1_Missense_Mutation_p.R119I|RBM46_ENST00000514866.1_Missense_Mutation_p.R119I	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	119	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R119I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTAGCCATCAGAATTCTTAAT	0.338																																					p.R119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356T	4						.						84.0	91.0	89.0					4																	155719167		2203	4300	6503	155938617	SO:0001583	missense	166863	exon3			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.356G>T	4.37:g.155719167G>T	ENSP00000281722:p.Arg119Ile	Somatic		Capture	Illumina HiSeq	Phase_I	155938617	NM_144979	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252116	0.59212	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.101120	0.64402	D	0.000002	T	0.29783	0.0744	M	0.75884	2.315	0.80722	D	1	B;B;B	0.25441	0.058;0.033;0.126	B;B;B	0.37346	0.087;0.098;0.247	T	0.05550	-1.0878	10	0.87932	D	0	-19.2546	13.8856	0.63706	0.0781:0.0:0.9219:0.0	.	119;119;119	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	I	119	ENSP00000424500:R119I;ENSP00000281722:R119I;ENSP00000422813:R119I;ENSP00000426672:R119I	ENSP00000281722:R119I	R	+	2	0	RBM46	155938617	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.353000	0.52247	2.793000	0.96121	0.563000	0.77884	AGA		0.338	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
MAP9	79884	broad.mit.edu	37	4	156294340	156294340	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:156294340T>G	ENST00000311277.4	-	4	692	c.429A>C	c.(427-429)aaA>aaC	p.K143N	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.K71N|MAP9_ENST00000515654.1_Missense_Mutation_p.K143N	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	143					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.K143N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCATTTTTATTTTGTCTTTTT	0.303																																					p.K143N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A429C	4						.						46.0	48.0	47.0					4																	156294340		2202	4300	6502	156513790	SO:0001583	missense	79884	exon4			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.429A>C	4.37:g.156294340T>G	ENSP00000310593:p.Lys143Asn	Somatic		Capture	Illumina HiSeq	Phase_I	156513790	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004110	0.35320	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.33216	2.19;2.2;1.46;1.42	5.54	1.32	0.21799	.	0.896444	0.09662	N	0.772278	T	0.46795	0.1411	M	0.64997	1.995	0.09310	N	1	B;D;D;D	0.67145	0.017;0.996;0.986;0.986	B;P;P;P	0.59948	0.008;0.866;0.744;0.744	T	0.39502	-0.9611	10	0.33940	T	0.23	-1.3502	11.8545	0.52429	0.0:0.0:0.5633:0.4367	.	143;71;143;143	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	N	143;143;143;143;71	ENSP00000310593:K143N;ENSP00000427402:K143N;ENSP00000394048:K143N;ENSP00000368550:K71N	ENSP00000310593:K143N	K	-	3	2	MAP9	156513790	0.000000	0.05858	0.000000	0.03702	0.487000	0.33371	0.208000	0.17415	0.037000	0.15575	0.455000	0.32223	AAA		0.303	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
GUCY1A3	2982	broad.mit.edu	37	4	156618215	156618215	+	Missense_Mutation	SNP	C	C	T	rs143862431		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:156618215C>T	ENST00000296518.7	+	3	405	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R66W|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R66W|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R66W|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R66W|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R66W			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	66					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.R66W(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAAAACCAGTCGGAGCCGAGT	0.443																																					p.R66W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	4						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,,TRP/ARG,TRP/ARG	0,4406		0,0,2203	98.0	101.0	100.0		196,196,196,196,,196,196	1.9	1.0	4	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,utr-5,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130686.1,NM_001130687.1	101,101,101,101,,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging	66/691,66/691,66/691,66/691,,66/367,66/625	156618215	1,13005	2203	4300	6503	156837665	SO:0001583	missense	2982	exon3				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.196C>T	4.37:g.156618215C>T	ENSP00000296518:p.Arg66Trp	Somatic		Capture	Illumina HiSeq	Phase_I	156837665	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889571	0.72524	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.72;-2.96;-2.96;-2.96	5.93	1.87	0.25490	.	0.000000	0.64402	D	0.000018	D	0.95043	0.8395	M	0.68593	2.085	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94654	0.7842	10	0.66056	D	0.02	.	16.034	0.80608	0.6221:0.3779:0.0:0.0	.	66;66;66	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	W	66	ENSP00000424361:R66W;ENSP00000421493:R66W;ENSP00000426968:R66W;ENSP00000412201:R66W;ENSP00000296518:R66W;ENSP00000426040:R66W	ENSP00000296518:R66W	R	+	1	2	GUCY1A3	156837665	0.794000	0.28838	0.991000	0.47740	0.990000	0.78478	0.709000	0.25734	0.331000	0.23511	0.591000	0.81541	CGG		0.443	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1B3	2983	broad.mit.edu	37	4	156717647	156717647	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:156717647T>C	ENST00000264424.8	+	8	1044	c.962T>C	c.(961-963)tTt>tCt	p.F321S	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F253S|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F253S|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F343S|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F301S|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F253S|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F321S	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	321					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.F321S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGCATACTTTTTCTATGTTCA	0.353																																					p.F321S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T962C	4						.						136.0	128.0	131.0					4																	156717647		1882	4120	6002	156937097	SO:0001583	missense	2983	exon8			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.962T>C	4.37:g.156717647T>C	ENSP00000264424:p.Phe321Ser	Somatic		Capture	Illumina HiSeq	Phase_I	156937097	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283926	0.80803	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.22	5.22	0.72569	Haem NO binding associated (1);	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.991;0.993;0.993;0.985;0.991	D	0.98760	1.0724	10	0.87932	D	0	.	15.3973	0.74805	0.0:0.0:0.0:1.0	.	301;343;253;321;321	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	S	253;343;301;253;321;321;253	ENSP00000427226:F253S;ENSP00000426786:F343S;ENSP00000426319:F301S;ENSP00000422313:F253S;ENSP00000264424:F321S;ENSP00000420842:F321S;ENSP00000425065:F253S	ENSP00000264424:F321S	F	+	2	0	GUCY1B3	156937097	1.000000	0.71417	0.893000	0.35052	0.954000	0.61252	7.566000	0.82347	2.106000	0.64143	0.482000	0.46254	TTT		0.353	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
GRIA2	2891	broad.mit.edu	37	4	158233917	158233917	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:158233917G>T	ENST00000264426.9	+	4	835	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	GRIA2_ENST00000507898.1_Missense_Mutation_p.D139Y|GRIA2_ENST00000393815.2_Missense_Mutation_p.D139Y|GRIA2_ENST00000296526.7_Missense_Mutation_p.D186Y|GRIA2_ENST00000449365.1_Missense_Mutation_p.D139Y	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	186					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D186Y(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CATTAACAATGACAAGAAAGA	0.408																																					p.D139Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415T	4						.						135.0	128.0	130.0					4																	158233917		2203	4300	6503	158453367	SO:0001583	missense	2891	exon4				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.556G>T	4.37:g.158233917G>T	ENSP00000264426:p.Asp186Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	158453367	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901173	0.92035	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365;ENST00000503437	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.086415	0.44285	D	0.000470	T	0.38374	0.1038	N	0.22421	0.69	0.80722	D	1	P;B;P	0.39696	0.683;0.434;0.683	P;P;B	0.56788	0.806;0.612;0.256	T	0.25572	-1.0128	10	0.72032	D	0.01	.	19.3535	0.94401	0.0:0.0:1.0:0.0	.	186;186;139	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Y	139;139;186;186;139;139;59	ENSP00000426845:D139Y;ENSP00000377403:D139Y;ENSP00000296526:D186Y;ENSP00000264426:D186Y;ENSP00000389837:D139Y;ENSP00000426784:D59Y	ENSP00000264426:D186Y	D	+	1	0	GRIA2	158453367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.948000	0.93006	2.580000	0.87095	0.655000	0.94253	GAC		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIA2	2891	broad.mit.edu	37	4	158284073	158284073	+	Silent	SNP	G	G	A	rs148321113		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:158284073G>A	ENST00000264426.9	+	15	2808	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	GRIA2_ENST00000507898.1_Silent_p.A796A|GRIA2_ENST00000393815.2_Silent_p.A796A|GRIA2_ENST00000296526.7_Silent_p.A843A|GRIA2_ENST00000449365.1_Silent_p.A796A|AC079233.1_ENST00000578227.1_RNA	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	843					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A843A(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGGCCGAGGCGAAACGAATGA	0.448																																					p.A796A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2388A	4						.	G	,,	0,4406		0,0,2203	150.0	134.0	140.0		2529,2529,2388	5.2	1.0	4	dbSNP_134	140	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GRIA2	NM_000826.3,NM_001083619.1,NM_001083620.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	843/884,843/884,796/837	158284073	2,13004	2203	4300	6503	158503523	SO:0001819	synonymous_variant	2891	exon15				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2529G>A	4.37:g.158284073G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158503523	NM_001083620	A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	4.187	0.033288	0.08101	0.0	2.33E-4	ENSG00000120251	ENST00000510854	.	.	.	6.08	5.23	0.72850	.	.	.	.	.	T	0.62672	0.2447	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61402	-0.7070	4	.	.	.	.	10.6545	0.45667	0.068:0.1333:0.7987:0.0	.	.	.	.	K	174	.	.	E	+	1	0	GRIA2	158503523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.666000	0.37460	1.552000	0.49463	0.591000	0.81541	GAA		0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FAM198B	51313	broad.mit.edu	37	4	159076865	159076865	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:159076865C>A	ENST00000296530.8	-	3	1644	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	FAM198B_ENST00000585682.1_Missense_Mutation_p.Q341H|FAM198B_ENST00000393807.5_Missense_Mutation_p.Q349H|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	341						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q341H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCCAGCATTTCTGTTTCAGCA	0.443																																					p.Q341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1023T	4						.						108.0	92.0	98.0					4																	159076865		2203	4299	6502	159296315	SO:0001583	missense	51313	exon3				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1023G>T	4.37:g.159076865C>A	ENSP00000296530:p.Gln341His	Somatic		Capture	Illumina HiSeq	Phase_I	159296315	NM_001128424	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678869	0.14841	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.31769	1.48;1.48	5.56	3.52	0.40303	.	0.235974	0.44285	D	0.000478	T	0.17195	0.0413	L	0.34521	1.04	0.80722	D	1	B;B	0.19331	0.001;0.035	B;B	0.16289	0.003;0.015	T	0.06607	-1.0817	10	0.11485	T	0.65	-9.71	4.6809	0.12734	0.1249:0.6016:0.1219:0.1516	.	349;341	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	H	341;341;349;47	ENSP00000296530:Q341H;ENSP00000377396:Q349H	ENSP00000296530:Q341H	Q	-	3	2	FAM198B	159296315	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	0.457000	0.21875	1.351000	0.45789	-0.143000	0.13931	CAG		0.443	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
RAPGEF2	9693	broad.mit.edu	37	4	160271321	160271321	+	Missense_Mutation	SNP	C	C	A	rs186800143		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:160271321C>A	ENST00000264431.4	+	20	3681	c.3262C>A	c.(3262-3264)Ctt>Att	p.L1088I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1088					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.L1076I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAAAAAATTCTTTCTTTGTC	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		15491	0.001		0.0	False		,,,				2504	0.0				p.L1088I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3262A	4						.						49.0	48.0	48.0					4																	160271321		1792	4063	5855	160490771	SO:0001583	missense	9693	exon20			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3262C>A	4.37:g.160271321C>A	ENSP00000264431:p.Leu1088Ile	Somatic		Capture	Illumina HiSeq	Phase_I	160490771	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	21.0|21.0	4.078366|4.078366	0.76528|0.76528	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.48201	.|0.82	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.058966	.|0.64402	.|N	.|0.000001	T|T	0.44498|0.44498	0.1296|0.1296	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	.|P	.|0.47841	.|0.901	.|B	.|0.37267	.|0.245	T|T	0.53753|0.53753	-0.8394|-0.8394	5|10	.|0.72032	.|D	.|0.01	.|.	19.4355|19.4355	0.94792|0.94792	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1088	.|Q9Y4G8	.|RPGF2_HUMAN	L|I	119|1088	.|ENSP00000264431:L1088I	.|ENSP00000264431:L1088I	F|L	+|+	3|1	2|0	RAPGEF2|RAPGEF2	160490771|160490771	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.998000|0.998000	0.95712|0.95712	7.041000|7.041000	0.76558|0.76558	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.323	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
FSTL5	56884	broad.mit.edu	37	4	162306947	162306947	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:162306947G>T	ENST00000306100.5	-	16	2932	c.2496C>A	c.(2494-2496)atC>atA	p.I832I	FSTL5_ENST00000427802.2_Silent_p.I822I|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.I831I|FSTL5_ENST00000379164.4_Silent_p.I831I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	832						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I832I(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAACTTCAGTGATCTCACAGT	0.383																																					p.I832I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2496A	4						.						138.0	137.0	138.0					4																	162306947		2203	4300	6503	162526397	SO:0001819	synonymous_variant	56884	exon16			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2496C>A	4.37:g.162306947G>T		Somatic		Capture	Illumina HiSeq	Phase_I	162526397	NM_020116	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	CCDS3802.1																																																																																				0.383	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
MARCH1	55016	broad.mit.edu	37	4	165118737	165118737	+	Intron	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:165118737C>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E43*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AATTCCAGTTCTTCAAATTCA	0.473																																					p.E43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G127T	4						.						129.0	129.0	129.0					4																	165118737		2203	4300	6503	165338187	SO:0001627	intron_variant	23520	exon1			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85923G>T	4.37:g.165118737C>A		Somatic		Capture	Illumina HiSeq	Phase_I	165338187	NM_012403	D3DP29|Q9NWR0	Nonsense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																				0.473	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
TRIM60	166655	broad.mit.edu	37	4	165962222	165962222	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:165962222T>G	ENST00000512596.1	+	3	1214	c.998T>G	c.(997-999)tTt>tGt	p.F333C	TRIM60_ENST00000508504.1_Missense_Mutation_p.F333C|TRIM60_ENST00000341062.5_Missense_Mutation_p.F333C	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	333	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F333C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CCAAGGAGATTTTATGTCTGC	0.423																																					p.F333C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T998G	4						.						109.0	111.0	111.0					4																	165962222		2203	4300	6503	166181672	SO:0001583	missense	166655	exon3			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.998T>G	4.37:g.165962222T>G	ENSP00000421142:p.Phe333Cys	Somatic		Capture	Illumina HiSeq	Phase_I	166181672	NM_152620	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666573	0.47677	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.59638	0.25;0.25;0.25	2.28	2.28	0.28536	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.42964	U	0.000638	T	0.77678	0.4166	M	0.92459	3.31	0.36989	D	0.894711	D	0.89917	1.0	D	0.91635	0.999	T	0.82577	-0.0388	10	0.87932	D	0	.	8.4413	0.32816	0.0:0.0:0.0:1.0	.	333	Q495X7	TRI60_HUMAN	C	333	ENSP00000421142:F333C;ENSP00000426496:F333C;ENSP00000343765:F333C	ENSP00000343765:F333C	F	+	2	0	TRIM60	166181672	0.999000	0.42202	0.003000	0.11579	0.023000	0.10783	3.692000	0.54727	1.292000	0.44672	0.533000	0.62120	TTT		0.423	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
DDX60	55601	broad.mit.edu	37	4	169196617	169196617	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:169196617T>G	ENST00000393743.3	-	16	2474	c.2183A>C	c.(2182-2184)aAa>aCa	p.K728T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	728					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.K728T(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACTGAATATTTATTCCTTTT	0.358																																					p.K728T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2183C	4						.						88.0	84.0	85.0					4																	169196617		2203	4300	6503	169433192	SO:0001583	missense	55601	exon16			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2183A>C	4.37:g.169196617T>G	ENSP00000377344:p.Lys728Thr	Somatic		Capture	Illumina HiSeq	Phase_I	169433192	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750709	0.31046	.	.	ENSG00000137628	ENST00000393743	T	0.19806	2.12	4.72	3.45	0.39498	.	0.364252	0.26314	N	0.025084	T	0.31513	0.0799	M	0.72894	2.215	0.34052	D	0.656296	P	0.52842	0.956	P	0.50754	0.649	T	0.49331	-0.8951	10	0.35671	T	0.21	.	11.6049	0.51026	0.0:0.0:0.1479:0.8521	.	728	Q8IY21	DDX60_HUMAN	T	728	ENSP00000377344:K728T	ENSP00000377344:K728T	K	-	2	0	DDX60	169433192	0.000000	0.05858	0.945000	0.38365	0.012000	0.07955	0.122000	0.15687	1.882000	0.54519	0.460000	0.39030	AAA		0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
NEK1	4750	broad.mit.edu	37	4	170321696	170321696	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:170321696G>T	ENST00000439128.2	-	32	4246	c.3606C>A	c.(3604-3606)ttC>ttA	p.F1202L	NEK1_ENST00000511633.1_Missense_Mutation_p.F1186L|NEK1_ENST00000507142.1_Missense_Mutation_p.F1230L|NEK1_ENST00000510533.1_Missense_Mutation_p.F1158L|NEK1_ENST00000512193.1_Missense_Mutation_p.F1133L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1202					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.F1230L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAACCTCAAAGAATTTTTCAA	0.338																																					p.F1158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3474A	4						.						59.0	53.0	55.0					4																	170321696		1811	4081	5892	170558271	SO:0001583	missense	4750	exon31			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3606C>A	4.37:g.170321696G>T	ENSP00000408020:p.Phe1202Leu	Somatic		Capture	Illumina HiSeq	Phase_I	170558271	NM_001199400	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631069	0.46944	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.63	4.79	0.61399	.	0.088804	0.49916	D	0.000131	T	0.43077	0.1231	L	0.55103	1.725	0.42599	D	0.993275	B;B;B;B;B	0.29136	0.088;0.234;0.146;0.234;0.053	B;B;B;B;B	0.31686	0.058;0.084;0.134;0.05;0.015	T	0.35649	-0.9780	10	0.37606	T	0.19	.	10.1767	0.42943	0.0727:0.0:0.7834:0.1439	.	1133;1186;1230;1158;1202	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	L	1202;1186;1158;1230;1133	ENSP00000408020:F1202L;ENSP00000423332:F1186L;ENSP00000427653:F1158L;ENSP00000424757:F1230L;ENSP00000424938:F1133L	ENSP00000408020:F1202L	F	-	3	2	NEK1	170558271	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.493000	0.45320	1.382000	0.46385	0.655000	0.94253	TTC		0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
CLCN3	1182	broad.mit.edu	37	4	170618550	170618550	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:170618550G>A	ENST00000513761.1	+	9	1787	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	CLCN3_ENST00000360642.3_Missense_Mutation_p.A383T|CLCN3_ENST00000504131.2_Missense_Mutation_p.A393T|CLCN3_ENST00000347613.4_Missense_Mutation_p.A410T	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	410					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.A410T(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTTCATTAGGGCAAATATTGC	0.423																																					p.A410T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228A	4						.						139.0	137.0	138.0					4																	170618550		2203	4300	6503	170855125	SO:0001583	missense	1182	exon9			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1228G>A	4.37:g.170618550G>A	ENSP00000424603:p.Ala410Thr	Somatic		Capture	Illumina HiSeq	Phase_I	170855125	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329710	0.60743	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.84	5.84	0.93424	Chloride channel, core (2);	0.044796	0.85682	D	0.000000	D	0.92694	0.7678	L	0.54965	1.715	0.80722	D	1	B;B;B;B;B	0.27498	0.18;0.089;0.18;0.089;0.072	B;B;B;B;B	0.34242	0.178;0.178;0.178;0.125;0.111	D	0.89132	0.3510	10	0.29301	T	0.29	-9.8758	20.1392	0.98050	0.0:0.0:1.0:0.0	.	383;393;383;410;410	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	T	410;410;383;393;383	ENSP00000424603:A410T;ENSP00000261514:A410T;ENSP00000353857:A383T;ENSP00000424540:A393T;ENSP00000425323:A383T	ENSP00000261514:A410T	A	+	1	0	CLCN3	170855125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.670000	0.68088	2.765000	0.95021	0.557000	0.71058	GCA		0.423	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
LAP3	51056	broad.mit.edu	37	4	17609065	17609065	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:17609065C>T	ENST00000226299.4	+	13	1687	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Silent_p.F440F	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	471					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.F471F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGAAAGAATTCGTAACTCATC	0.458																																					p.F471F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1413T	4						.						120.0	111.0	114.0					4																	17609065		2203	4300	6503	17218163	SO:0001819	synonymous_variant	51056	exon13			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1413C>T	4.37:g.17609065C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17218163	NM_015907	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	CCDS3422.1																																																																																				0.458	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1		
CLCN3	1182	broad.mit.edu	37	4	170641203	170641203	+	3'UTR	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:170641203G>T	ENST00000513761.1	+	0	3071				CLCN3_ENST00000360642.3_3'UTR|CLCN3_ENST00000504131.2_3'UTR|CLCN3_ENST00000347613.4_Missense_Mutation_p.S863I	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3						chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.S863I(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGTTGAATAGCACAACTCTT	0.398																																					p.S863I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2588T	4						.						102.0	106.0	104.0					4																	170641203		2203	4300	6503	170877778	SO:0001624	3_prime_UTR_variant	1182	exon14			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.*55G>T	4.37:g.170641203G>T		Somatic		Capture	Illumina HiSeq	Phase_I	170877778	NM_173872	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270694	0.40194	.	.	ENSG00000109572	ENST00000347613	D	0.89552	-2.53	5.26	4.27	0.50696	.	1.743780	0.02579	N	0.098617	D	0.86830	0.6027	.	.	.	0.80722	D	1	B	0.31351	0.32	B	0.31101	0.124	T	0.71849	-0.4468	9	0.87932	D	0	-2.5344	8.524	0.33293	0.2031:0.0:0.7968:0.0	.	863	P51790-2	.	I	863	ENSP00000261514:S863I	ENSP00000261514:S863I	S	+	2	0	CLCN3	170877778	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	3.900000	0.56295	0.952000	0.37798	0.462000	0.41574	AGC		0.398	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
GALNTL6	442117	broad.mit.edu	37	4	173232893	173232893	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:173232893C>T	ENST00000506823.1	+	4	1033	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109C|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	126					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R126C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCAGATATTCGTCATGCTAA	0.373																																					p.R126C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	4						.						174.0	179.0	177.0					4																	173232893		2203	4300	6503	173469468	SO:0001583	missense	442117	exon4				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.376C>T	4.37:g.173232893C>T	ENSP00000423313:p.Arg126Cys	Somatic		Capture	Illumina HiSeq	Phase_I	173469468	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066236	0.55539	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.62788	0.0;0.0	4.47	4.47	0.54385	.	0.000000	0.36703	N	0.002460	D	0.83312	0.5227	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88085	0.2809	10	0.87932	D	0	.	17.4948	0.87714	0.0:1.0:0.0:0.0	.	126	Q49A17	GLTL6_HUMAN	C	126;126;109	ENSP00000423313:R126C;ENSP00000423827:R109C	ENSP00000385382:R126C	R	+	1	0	GALNTL6	173469468	1.000000	0.71417	0.997000	0.53966	0.187000	0.23431	4.244000	0.58728	2.199000	0.70637	0.462000	0.41574	CGT		0.373	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
GLRA3	8001	broad.mit.edu	37	4	175598343	175598343	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:175598343G>T	ENST00000274093.3	-	7	1315	c.813C>A	c.(811-813)tcC>tcA	p.S271S	GLRA3_ENST00000340217.5_Silent_p.S271S	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	271					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S271S(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	ATGAAACCCAGGATAGAATAA	0.468																																					p.S271S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813A	4						.						115.0	103.0	107.0					4																	175598343		2203	4300	6503	175834918	SO:0001819	synonymous_variant	8001	exon7			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.813C>A	4.37:g.175598343G>T		Somatic		Capture	Illumina HiSeq	Phase_I	175834918	NM_001042543	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																				0.468	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
ADAM29	11086	broad.mit.edu	37	4	175897211	175897211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:175897211G>T	ENST00000359240.3	+	5	1205	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E179*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E179*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E179*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	179					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E179*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGAATTTGAAGAAATTGATAA	0.353																																					p.E179X	Ovarian(140;1727 1835 21805 25838 41440)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G535T	4						.						83.0	85.0	84.0					4																	175897211		2203	4300	6503	176133786	SO:0001587	stop_gained	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.535G>T	4.37:g.175897211G>T	ENSP00000352177:p.Glu179*	Somatic		Capture	Illumina HiSeq	Phase_I	176133786	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782644	0.90282	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	3.74	2.0	0.26442	.	1.148040	0.06944	U	0.813346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7546	0.18166	0.2448:0.0:0.7552:0.0	.	.	.	.	X	179	.	.	E	+	1	0	ADAM29	176133786	0.048000	0.20356	0.007000	0.13788	0.005000	0.04900	1.271000	0.33098	0.556000	0.29098	0.643000	0.83706	GAA		0.353	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
WDR17	116966	broad.mit.edu	37	4	177046453	177046453	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:177046453C>A	ENST00000280190.4	+	6	965	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	WDR17_ENST00000508596.1_Missense_Mutation_p.S246Y|WDR17_ENST00000507824.2_Missense_Mutation_p.S253Y|WDR17_ENST00000393643.2_Missense_Mutation_p.S246Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	270								p.S270Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCAGCAGCTTCTGTACAGTGC	0.403																																					p.S246Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C737A	4						.						142.0	147.0	146.0					4																	177046453		2203	4300	6503	177283447	SO:0001583	missense	116966	exon5			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.809C>A	4.37:g.177046453C>A	ENSP00000280190:p.Ser270Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	177283447	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409143	0.62399	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63913	-0.07;-0.07;-0.07	5.23	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.134314	0.52532	D	0.000073	T	0.58380	0.2118	M	0.75447	2.3	0.80722	D	1	P;P	0.44946	0.846;0.846	B;B	0.40101	0.319;0.319	T	0.63825	-0.6549	10	0.02654	T	1	-18.5007	15.9493	0.79820	0.0:0.8649:0.1351:0.0	.	246;270	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	246;246;270;253	ENSP00000422763:S246Y;ENSP00000377258:S246Y;ENSP00000280190:S270Y	ENSP00000280190:S270Y	S	+	2	0	WDR17	177283447	1.000000	0.71417	0.955000	0.39395	0.963000	0.63663	5.317000	0.65822	1.410000	0.46936	0.650000	0.86243	TCT		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
SPATA4	132851	broad.mit.edu	37	4	177113911	177113911	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:177113911C>T	ENST00000280191.2	-	4	663	c.555G>A	c.(553-555)tcG>tcA	p.S185S	SPATA4_ENST00000515234.1_Silent_p.S12S	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	185						cytoplasm (GO:0005737)		p.S185S(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TAATAGACTTCGAAACTGTAG	0.368																																					p.S185S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G555A	4						.						68.0	69.0	69.0					4																	177113911		2203	4300	6503	177350905	SO:0001819	synonymous_variant	132851	exon4			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.555G>A	4.37:g.177113911C>T		Somatic		Capture	Illumina HiSeq	Phase_I	177350905	NM_144644	Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	CCDS3826.1																																																																																				0.368	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644	
ASB5	140458	broad.mit.edu	37	4	177142345	177142345	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:177142345A>G	ENST00000296525.3	-	5	744	c.631T>C	c.(631-633)Tca>Cca	p.S211P	ASB5_ENST00000512254.1_Missense_Mutation_p.S158P|ASB5_ENST00000511879.1_5'Flank	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	211					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.S211P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AATTGCTGTGACATACAAGCT	0.403																																					p.S211P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T631C	4						.						92.0	86.0	88.0					4																	177142345		2203	4300	6503	177379339	SO:0001583	missense	140458	exon5			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.631T>C	4.37:g.177142345A>G	ENSP00000296525:p.Ser211Pro	Somatic		Capture	Illumina HiSeq	Phase_I	177379339	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316214	0.40996	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.66099	0.57;-0.19	5.91	2.43	0.29744	Ankyrin repeat-containing domain (4);	0.240219	0.43110	D	0.000618	T	0.59046	0.2165	M	0.75085	2.285	0.41806	D	0.989945	B;B	0.30937	0.301;0.243	B;B	0.32149	0.105;0.141	T	0.55547	-0.8124	10	0.36615	T	0.2	-9.818	9.7055	0.40214	0.5059:0.4:0.0:0.0941	.	211;158	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	P	211;158	ENSP00000296525:S211P;ENSP00000422877:S158P	ENSP00000296525:S211P	S	-	1	0	ASB5	177379339	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.676000	0.37565	0.484000	0.27630	0.533000	0.62120	TCA		0.403	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
ASB5	140458	broad.mit.edu	37	4	177142733	177142733	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:177142733C>A	ENST00000296525.3	-	4	516	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ASB5_ENST00000512254.1_Missense_Mutation_p.D82Y|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	135					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.D135Y(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GTCACGCCATCTATCGTGATT	0.448																																					p.D135Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403T	4						.						110.0	100.0	103.0					4																	177142733		2203	4300	6503	177379727	SO:0001583	missense	140458	exon4			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.403G>T	4.37:g.177142733C>A	ENSP00000296525:p.Asp135Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	177379727	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490823	0.84962	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.64803	-0.12;-0.12	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.043926	0.85682	D	0.000000	T	0.77718	0.4172	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77004	0.953;0.989	T	0.77555	-0.2544	10	0.66056	D	0.02	-33.1321	19.3249	0.94258	0.0:1.0:0.0:0.0	.	135;82	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	Y	135;82	ENSP00000296525:D135Y;ENSP00000422877:D82Y	ENSP00000296525:D135Y	D	-	1	0	ASB5	177379727	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.014000	0.76380	2.805000	0.96524	0.655000	0.94253	GAT		0.448	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
ASB5	140458	broad.mit.edu	37	4	177146478	177146478	+	Nonsense_Mutation	SNP	G	G	A	rs370097719		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:177146478G>A	ENST00000296525.3	-	2	324	c.211C>T	c.(211-213)Cga>Tga	p.R71*	ASB5_ENST00000512254.1_Nonsense_Mutation_p.R18*|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	71					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R71*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGTGGTGATCGATCTGCCCAG	0.363																																					p.R71X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C211T	4						.	G	stop/ARG	0,4406		0,0,2203	82.0	85.0	84.0		211	3.2	1.0	4		84	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ASB5	NM_080874.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		71/330	177146478	1,13005	2203	4300	6503	177383472	SO:0001587	stop_gained	140458	exon2			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.211C>T	4.37:g.177146478G>A	ENSP00000296525:p.Arg71*	Somatic		Capture	Illumina HiSeq	Phase_I	177383472	NM_080874	Q8N7B5	Nonsense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401940	0.96030	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000512254	.	.	.	6.16	3.21	0.36854	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-24.8584	15.1505	0.72692	0.0:0.0:0.5508:0.4492	.	.	.	.	X	71;18	.	ENSP00000296525:R71X	R	-	1	2	ASB5	177383472	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.286000	0.43496	0.294000	0.22547	0.650000	0.86243	CGA		0.363	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
TENM3	55714	broad.mit.edu	37	4	183549932	183549932	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:183549932G>T	ENST00000511685.1	+	5	1001	c.878G>T	c.(877-879)aGa>aTa	p.R293I	RN7SKP67_ENST00000515905.1_RNA|TENM3_ENST00000406950.2_Missense_Mutation_p.R293I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	293	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R293I(2)									ACCCTATCAAGAAGTGCTTTT	0.483																																					p.R293I												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G878T	4						.						58.0	56.0	57.0					4																	183549932		1921	4139	6060	183786926	SO:0001583	missense	55714	exon4			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.878G>T	4.37:g.183549932G>T	ENSP00000424226:p.Arg293Ile	Somatic		Capture	Illumina HiSeq	Phase_I	183786926	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241744	0.95272	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.45668	0.89;0.89;0.89	5.1	5.1	0.69264	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.61763	0.2373	L	0.56280	1.765	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.64672	-0.6352	9	0.72032	D	0.01	.	18.5151	0.90933	0.0:0.0:1.0:0.0	.	293	Q9P273	TEN3_HUMAN	I	293;293;151	ENSP00000424226:R293I;ENSP00000385276:R293I;ENSP00000426914:R151I	ENSP00000385276:R293I	R	+	2	0	ODZ3	183786926	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.368000	0.80403	0.650000	0.86243	AGA		0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183601838	183601838	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:183601838C>A	ENST00000511685.1	+	10	1905	c.1782C>A	c.(1780-1782)atC>atA	p.I594I	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.I594I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	594	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I594I(1)									GGATTTGTATCATGGGCTCTT	0.483																																					p.I594I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1782A	4						.						92.0	94.0	93.0					4																	183601838		1896	4109	6005	183838832	SO:0001819	synonymous_variant	55714	exon9			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1782C>A	4.37:g.183601838C>A		Somatic		Capture	Illumina HiSeq	Phase_I	183838832	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183603088	183603088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:183603088C>A	ENST00000511685.1	+	11	2079	c.1956C>A	c.(1954-1956)tgC>tgA	p.C652*	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.C652*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	652	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.C652*(1)									CAGACCAGTGCTCCGGCCACG	0.507																																					p.C652X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1956A	4						.																																			183840082	SO:0001587	stop_gained	55714	exon10			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1956C>A	4.37:g.183603088C>A	ENSP00000424226:p.Cys652*	Somatic		Capture	Illumina HiSeq	Phase_I	183840082	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	37	6.106429	0.97286	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.5	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3906	0.32526	0.0:0.5917:0.0:0.4083	.	.	.	.	X	652	.	ENSP00000385276:C652X	C	+	3	2	ODZ3	183840082	0.997000	0.39634	0.998000	0.56505	0.726000	0.41606	0.580000	0.23803	0.058000	0.16222	-0.140000	0.14226	TGC		0.507	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183675544	183675544	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:183675544C>A	ENST00000511685.1	+	22	4147	c.4024C>A	c.(4024-4026)Ctg>Atg	p.L1342M	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.L1342M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1342					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L1342M(1)									TAAGGTACGTCTGGAATGGCC	0.383																																					p.L1342M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4024A	4						.						30.0	27.0	28.0					4																	183675544		1861	4106	5967	183912538	SO:0001583	missense	55714	exon21			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4024C>A	4.37:g.183675544C>A	ENSP00000424226:p.Leu1342Met	Somatic		Capture	Illumina HiSeq	Phase_I	183912538	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108161	0.37242	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91631	-2.88;-2.88	5.58	4.74	0.60224	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.96473	0.8849	M	0.89904	3.07	0.53688	D	0.999977	D	0.71674	0.998	D	0.77557	0.99	D	0.96690	0.9510	9	0.49607	T	0.09	.	14.636	0.68689	0.0:0.9307:0.0:0.0693	.	1342	Q9P273	TEN3_HUMAN	M	1342	ENSP00000424226:L1342M;ENSP00000385276:L1342M	ENSP00000385276:L1342M	L	+	1	2	ODZ3	183912538	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	2.202000	0.42743	1.602000	0.50124	-0.140000	0.14226	CTG		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TRAPPC11	60684	broad.mit.edu	37	4	184600520	184600520	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:184600520T>C	ENST00000334690.6	+	9	1048	c.846T>C	c.(844-846)tgT>tgC	p.C282C	TRAPPC11_ENST00000357207.4_Silent_p.C282C	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	282					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.C282C(1)									GTAGGCTGTGTTTTCAACACA	0.343																																					p.C282C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T846C	4						.						73.0	74.0	74.0					4																	184600520		2203	4300	6503	184837514	SO:0001819	synonymous_variant	60684	exon9				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.846T>C	4.37:g.184600520T>C		Somatic		Capture	Illumina HiSeq	Phase_I	184837514	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																				0.343	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
TRAPPC11	60684	broad.mit.edu	37	4	184606497	184606497	+	Missense_Mutation	SNP	G	G	A	rs147516606		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:184606497G>A	ENST00000334690.6	+	17	1905	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.R568Q|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.R174Q	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	568					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.R568Q(2)									TGGGCAGACCGAATTTCTCTG	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17216	0.0		0.0	False		,,,				2504	0.0				p.R568Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1703A	4						.	G	GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	154.0	148.0	150.0		1703,1703	5.6	1.0	4	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C4orf41	NM_021942.4,NM_199053.1	43,43	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign	568/1134,568/1087	184606497	5,13001	2203	4300	6503	184843491	SO:0001583	missense	60684	exon17				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1703G>A	4.37:g.184606497G>A	ENSP00000335371:p.Arg568Gln	Somatic		Capture	Illumina HiSeq	Phase_I	184843491	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512706	0.85389	9.08E-4	1.16E-4	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.41236	1.265	0.80722	D	1	D;D;D	0.89917	1.0;0.964;0.979	D;B;P	0.79108	0.992;0.381;0.585	T	0.64228	-0.6457	9	0.19147	T	0.46	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	174;568;568	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	Q	568;568;568;174	.	ENSP00000335371:R568Q	R	+	2	0	C4orf41	184843491	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	9.696000	0.98695	2.797000	0.96272	0.563000	0.77884	CGA		0.423	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
STOX2	56977	broad.mit.edu	37	4	184930805	184930805	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:184930805C>A	ENST00000308497.4	+	3	2249	c.814C>A	c.(814-816)Cgg>Agg	p.R272R	STOX2_ENST00000438269.1_Silent_p.R272R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	272					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.R272R(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAAGTTATTCCGGTTAAGTTT	0.408																																					p.R272R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C814A	4						.						22.0	24.0	23.0					4																	184930805		1824	4079	5903	185167799	SO:0001819	synonymous_variant	56977	exon3			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.814C>A	4.37:g.184930805C>A		Somatic		Capture	Illumina HiSeq	Phase_I	185167799	NM_020225	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																				0.408	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225	
CASP3	836	broad.mit.edu	37	4	185553522	185553522	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:185553522G>A	ENST00000308394.4	-	5	469	c.207C>T	c.(205-207)gtC>gtT	p.V69V	CASP3_ENST00000523916.1_Silent_p.V69V|CASP3_ENST00000393585.2_Silent_p.V69V|CASP3_ENST00000517513.1_Silent_p.V69V|CASP3_ENST00000393588.4_Silent_p.V69V	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	69					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)	p.V69V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	TTGCTGCATCGACATCTGTAC	0.343																																					p.V69V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	4						.						120.0	109.0	113.0					4																	185553522		2203	4300	6503	185790516	SO:0001819	synonymous_variant	836	exon4			BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.207C>T	4.37:g.185553522G>A		Somatic		Capture	Illumina HiSeq	Phase_I	185790516	NM_032991	A8K5M2|D3DP53|Q96AN1|Q96KP2	Silent	SNP	ENST00000308394.4	37	CCDS3836.1																																																																																				0.343	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346	
ACSL1	2180	broad.mit.edu	37	4	185705138	185705138	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:185705138G>A	ENST00000515030.1	-	4	643	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ACSL1_ENST00000507295.1_Silent_p.G106G|ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000504342.1_Silent_p.G106G|ACSL1_ENST00000504900.1_Silent_p.G106G|ACSL1_ENST00000513317.1_Silent_p.G106G|ACSL1_ENST00000281455.2_Silent_p.G106G|ACSL1_ENST00000437665.3_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	106					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.G106G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTAAACAAGGGCCATTATCTA	0.393																																					p.G106G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	4						.						130.0	133.0	132.0					4																	185705138		2203	4300	6503	185942132	SO:0001819	synonymous_variant	2180	exon4			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.318C>T	4.37:g.185705138G>A		Somatic		Capture	Illumina HiSeq	Phase_I	185942132	NM_001995	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	CCDS3839.1																																																																																				0.393	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
SLC25A4	291	broad.mit.edu	37	4	186068077	186068077	+	Silent	SNP	C	C	T	rs374918344		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:186068077C>T	ENST00000281456.6	+	4	981	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	283					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)	p.G283G(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GAGGCATGGGCGGTGCTTTTG	0.428																																					p.G283G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C849T	4						.	C		1,4405	2.1+/-5.4	0,1,2202	143.0	127.0	133.0		849	-10.6	0.8	4		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC25A4	NM_001151.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		283/299	186068077	2,13004	2203	4300	6503	186305071	SO:0001819	synonymous_variant	291	exon4			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.849C>T	4.37:g.186068077C>T		Somatic		Capture	Illumina HiSeq	Phase_I	186305071	NM_001151	D3DP59	Silent	SNP	ENST00000281456.6	37	CCDS34114.1																																																																																				0.428	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151	
LRP2BP	55805	broad.mit.edu	37	4	186295353	186295353	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:186295353C>A	ENST00000328559.7	-	5	1326	c.515G>T	c.(514-516)aGt>aTt	p.S172I	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Missense_Mutation_p.S174I|LRP2BP_ENST00000505916.1_Missense_Mutation_p.S172I|LRP2BP_ENST00000510776.1_Missense_Mutation_p.S146I	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	172						cytoplasm (GO:0005737)		p.S172I(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AGCCTTCACACTAGCTTTGGG	0.418																																					p.S172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515T	4						.						163.0	155.0	158.0					4																	186295353		2203	4300	6503	186532347	SO:0001583	missense	55805	exon5			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.515G>T	4.37:g.186295353C>A	ENSP00000332681:p.Ser172Ile	Somatic		Capture	Illumina HiSeq	Phase_I	186532347	NM_018409	A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267729	0.80469	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.48836	0.8;0.8;0.82;0.8	5.33	5.33	0.75918	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.61637	-0.7022	10	0.46703	T	0.11	-19.4925	19.3842	0.94550	0.0:1.0:0.0:0.0	.	146;172	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	I	174;172;146;172	ENSP00000354846:S174I;ENSP00000332681:S172I;ENSP00000424610:S146I;ENSP00000426203:S172I	ENSP00000332681:S172I	S	-	2	0	LRP2BP	186532347	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	4.862000	0.62976	2.644000	0.89710	0.655000	0.94253	AGT		0.418	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409	
LRP2BP	55805	broad.mit.edu	37	4	186295585	186295585	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:186295585G>A	ENST00000328559.7	-	4	1172	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Missense_Mutation_p.L123F|LRP2BP_ENST00000505916.1_Missense_Mutation_p.L121F|LRP2BP_ENST00000510776.1_Missense_Mutation_p.L95F	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	121						cytoplasm (GO:0005737)		p.L121F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GGAGAATCAAGAATTTTCTTC	0.363																																					p.L121F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361T	4						.						125.0	124.0	124.0					4																	186295585		2203	4300	6503	186532579	SO:0001583	missense	55805	exon4			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.361C>T	4.37:g.186295585G>A	ENSP00000332681:p.Leu121Phe	Somatic		Capture	Illumina HiSeq	Phase_I	186532579	NM_018409	A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635163	0.29068	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404	T;T;T;T;T	0.57436	0.44;0.44;0.44;0.44;0.4	5.59	-3.57	0.04612	Tetratricopeptide-like helical (1);	0.685000	0.13476	N	0.385055	T	0.29783	0.0744	N	0.19112	0.55	0.09310	N	1	P;B	0.36909	0.573;0.177	B;B	0.29716	0.106;0.073	T	0.11275	-1.0594	10	0.54805	T	0.06	-4.3891	10.7614	0.46266	0.0:0.3383:0.3426:0.3191	.	95;121	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	F	123;121;95;121;121	ENSP00000354846:L123F;ENSP00000332681:L121F;ENSP00000424610:L95F;ENSP00000426203:L121F;ENSP00000421244:L121F	ENSP00000332681:L121F	L	-	1	0	LRP2BP	186532579	0.001000	0.12720	0.029000	0.17559	0.640000	0.38277	-0.514000	0.06298	-0.642000	0.05480	-0.238000	0.12139	CTT		0.363	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409	
CCDC110	256309	broad.mit.edu	37	4	186379820	186379820	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:186379820T>G	ENST00000307588.3	-	6	1996	c.1921A>C	c.(1921-1923)Aaa>Caa	p.K641Q	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.K641Q|CCDC110_ENST00000393540.3_Missense_Mutation_p.K604Q	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	641						nucleus (GO:0005634)		p.K641Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGGTTGAGTTTTTCATCTTTA	0.348																																					p.K641Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1921C	4						.						91.0	95.0	94.0					4																	186379820		2202	4296	6498	186616814	SO:0001583	missense	256309	exon6			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1921A>C	4.37:g.186379820T>G	ENSP00000306776:p.Lys641Gln	Somatic		Capture	Illumina HiSeq	Phase_I	186616814	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913854	0.33815	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.33438	1.41;1.41;1.41	5.54	5.54	0.83059	.	0.100956	0.43260	D	0.000596	T	0.52789	0.1756	M	0.67953	2.075	0.33604	D	0.602709	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64141	-0.6477	10	0.38643	T	0.18	-26.2939	14.1879	0.65617	0.0:0.0:0.0:1.0	.	641;604;641	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Q	604;641;641	ENSP00000377172:K604Q;ENSP00000306776:K641Q;ENSP00000427246:K641Q	ENSP00000306776:K641Q	K	-	1	0	CCDC110	186616814	1.000000	0.71417	0.824000	0.32777	0.163000	0.22366	5.306000	0.65756	2.220000	0.72140	0.528000	0.53228	AAA		0.348	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
TLR3	7098	broad.mit.edu	37	4	187003856	187003856	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:187003856C>A	ENST00000296795.3	+	4	1120	c.1016C>A	c.(1015-1017)tCc>tAc	p.S339Y	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_Missense_Mutation_p.S62Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	339					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S339Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CAAAGTATTTCCCTTGCCTCA	0.363																																					p.S339Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1016A	4						.						64.0	59.0	60.0					4																	187003856		2203	4300	6503	187240850	SO:0001583	missense	7098	exon4			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1016C>A	4.37:g.187003856C>A	ENSP00000296795:p.Ser339Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	187240850	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686006	0.29962	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.29917	1.55;1.55	5.27	3.54	0.40534	.	0.490245	0.21023	N	0.081475	T	0.35856	0.0946	M	0.78456	2.415	0.09310	N	1	P	0.36990	0.577	B	0.39617	0.305	T	0.30090	-0.9990	10	0.62326	D	0.03	.	8.2619	0.31790	0.0:0.8153:0.0:0.1847	.	339	O15455	TLR3_HUMAN	Y	339;339;62	ENSP00000296795:S339Y;ENSP00000423684:S62Y	ENSP00000296795:S339Y	S	+	2	0	TLR3	187240850	0.003000	0.15002	0.015000	0.15790	0.649000	0.38597	1.850000	0.39328	0.715000	0.32103	0.557000	0.71058	TCC		0.363	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
FAT1	2195	broad.mit.edu	37	4	187534320	187534320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:187534320C>A	ENST00000441802.2	-	13	9615	c.9406G>T	c.(9406-9408)Gaa>Taa	p.E3136*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3136	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E3136*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGTGTTTTCAAACACGGTG	0.542										HNSCC(5;0.00058)																											p.E3136X	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9406T	4						.						79.0	85.0	83.0					4																	187534320		2025	4194	6219	187771314	SO:0001587	stop_gained	2195	exon13			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9406G>T	4.37:g.187534320C>A	ENSP00000406229:p.Glu3136*	Somatic		Capture	Illumina HiSeq	Phase_I	187771314	NM_005245		Nonsense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	51	18.421253	0.99904	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	.	.	.	X	3136;3138	.	ENSP00000260147:E3138X	E	-	1	0	FAT1	187771314	1.000000	0.71417	0.983000	0.44433	0.537000	0.34900	7.638000	0.83328	2.636000	0.89361	0.655000	0.94253	GAA		0.542	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
ZNF595	152687	broad.mit.edu	37	4	86725	86725	+	3'UTR	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:86725G>T	ENST00000339368.6	+	0	1534							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TTACACAAGAGAATCCATTCT	0.393																																					p.E444X												.	.	0			c.G1330T	4						.						30.0	34.0	33.0					4																	86725		2121	4256	6377	76725	SO:0001624	3_prime_UTR_variant	152687	exon4			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1531G>T	4.37:g.86725G>T		Somatic		Capture	Illumina HiSeq	Phase_I	76725	NM_182524		Missense_Mutation	SNP	ENST00000339368.6	37																																																																																					0.393	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524	
ZNF721	170960	broad.mit.edu	37	4	436032	436032	+	Missense_Mutation	SNP	C	C	T	rs369761887		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:436032C>T	ENST00000338977.5	-	2	2236	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E742K			Q8TF20	ZN721_HUMAN	zinc finger protein 721	730					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.E742K(1)|p.E512K(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCTTATATTCGTTCAGGTTT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		20965	0.0		0.001	False		,,,				2504	0.0				p.E742K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2224A	4						.	C	LYS/GLU	0,3964		0,0,1982	33.0	35.0	34.0		2224	-2.6	0.0	4		34	1,8349		0,1,4174	no	missense	ZNF721	NM_133474.2	56	0,1,6156	TT,TC,CC		0.012,0.0,0.0081	benign	742/924	436032	1,12313	1982	4175	6157	426032	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2188G>A	4.37:g.436032C>T	ENSP00000340524:p.Glu730Lys	Somatic		Capture	Illumina HiSeq	Phase_I	426032	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777023	0.00640	0.0	1.2E-4	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.16073	2.37;2.37	1.28	-2.57	0.06248	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.16790	0.44	0.09310	N	1	P;P;B	0.34639	0.461;0.461;0.406	B;B;B	0.15870	0.014;0.014;0.008	T	0.32719	-0.9896	9	0.05959	T	0.93	.	0.2822	0.00246	0.2479:0.2884:0.2472:0.2164	.	730;742;742	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	K	730;742	ENSP00000340524:E730K;ENSP00000428878:E742K	ENSP00000340524:E730K	E	-	1	0	ZNF721	426032	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-5.593000	0.00111	-0.289000	0.09038	0.184000	0.17185	GAA		0.383	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ZNF721	170960	broad.mit.edu	37	4	436276	436276	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:436276C>T	ENST00000338977.5	-	2	1992	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.T660T			Q8TF20	ZN721_HUMAN	zinc finger protein 721	648					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.T660T(1)|p.T430T(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TAAGAATTTTCGTGTGTTGAT	0.418																																					p.T660T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1980A	4						.						152.0	159.0	156.0					4																	436276		2000	4189	6189	426276	SO:0001819	synonymous_variant	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1944G>A	4.37:g.436276C>T		Somatic		Capture	Illumina HiSeq	Phase_I	426276	NM_133474	Q69YG7	Silent	SNP	ENST00000338977.5	37																																																																																					0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
POLN	353497	broad.mit.edu	37	4	2214829	2214829	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:2214829C>A	ENST00000511885.2	-	4	511	c.158G>T	c.(157-159)aGt>aTt	p.S53I	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.S53I			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	53					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.S53I(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATACTTAACACTGGACTTGTT	0.299								DNA polymerases (catalytic subunits)																													p.S53I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158T	4						.						159.0	146.0	151.0					4																	2214829		2201	4300	6501	2184627	SO:0001583	missense	353497	exon2			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.158G>T	4.37:g.2214829C>A	ENSP00000435506:p.Ser53Ile	Somatic		Capture	Illumina HiSeq	Phase_I	2184627	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727200	0.15439	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.47177	0.85;0.85	3.45	0.727	0.18254	.	0.857972	0.10396	N	0.679796	T	0.27900	0.0687	L	0.29908	0.895	0.09310	N	0.999993	P;P	0.35077	0.483;0.483	B;B	0.26517	0.051;0.07	T	0.20405	-1.0276	10	0.72032	D	0.01	-3.093	2.8796	0.05642	0.219:0.5392:0.0:0.2419	.	53;53	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	I	53	ENSP00000435506:S53I;ENSP00000372316:S53I	ENSP00000372316:S53I	S	-	2	0	POLN	2184627	0.694000	0.27738	0.215000	0.23724	0.046000	0.14306	0.158000	0.16422	0.113000	0.18004	-0.324000	0.08512	AGT		0.299	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808	
HTT	3064	broad.mit.edu	37	4	3222001	3222001	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:3222001C>A	ENST00000355072.5	+	53	7480	c.7335C>A	c.(7333-7335)gtC>gtA	p.V2445V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2445					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.V2445V(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAAAGGAAGTCTTTAAGGAGT	0.537																																					p.V2445V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7335A	4						.						107.0	106.0	107.0					4																	3222001		1888	4116	6004	3191799	SO:0001819	synonymous_variant	3064	exon53			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7335C>A	4.37:g.3222001C>A		Somatic		Capture	Illumina HiSeq	Phase_I	3191799	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.537	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
EVC2	132884	broad.mit.edu	37	4	5696081	5696081	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:5696081G>T	ENST00000344408.5	-	3	484	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	EVC2_ENST00000344938.1_Missense_Mutation_p.S144Y|EVC2_ENST00000310917.2_Missense_Mutation_p.S64Y	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	144					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S144Y(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGTTATAGGAGACTCTCTTTT	0.403																																					p.S64Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C191A	4						.						107.0	113.0	111.0					4																	5696081		2203	4300	6503	5746982	SO:0001583	missense	132884	exon3			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.431C>A	4.37:g.5696081G>T	ENSP00000342144:p.Ser144Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	5746982	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260600	0.39995	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78707	-1.18;-1.13;-1.2	4.36	4.36	0.52297	.	3.795400	0.01865	N	0.036847	D	0.84857	0.5565	L	0.43923	1.385	0.34263	D	0.680166	D	0.64830	0.994	P	0.61397	0.888	T	0.72966	-0.4131	10	0.66056	D	0.02	-5.6206	12.4126	0.55476	0.0:0.0:1.0:0.0	.	144	Q86UK5	LBN_HUMAN	Y	144;64;144	ENSP00000339954:S144Y;ENSP00000311683:S64Y;ENSP00000342144:S144Y	ENSP00000311683:S64Y	S	-	2	0	EVC2	5746982	0.999000	0.42202	0.893000	0.35052	0.386000	0.30323	4.043000	0.57354	1.944000	0.56390	0.557000	0.71058	TCT		0.403	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
JAKMIP1	152789	broad.mit.edu	37	4	6080707	6080707	+	Missense_Mutation	SNP	G	G	A	rs567561103		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:6080707G>A	ENST00000282924.5	-	8	1746	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R421C|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421C|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256C	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.R421C(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTTTGGAGCGCAACAGCCGT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.0				p.R421C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1261T	4						.						106.0	85.0	92.0					4																	6080707		2203	4300	6503	6131608	SO:0001583	missense	152789	exon8			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1261C>T	4.37:g.6080707G>A	ENSP00000282924:p.Arg421Cys	Somatic		Capture	Illumina HiSeq	Phase_I	6131608	NM_144720	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873897	0.72180	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.35789	1.71;1.71;1.71;1.29	5.24	5.24	0.73138	.	0.080268	0.53938	D	0.000057	T	0.51669	0.1688	M	0.73962	2.25	0.54753	D	0.999987	D;D;D;D	0.76494	0.999;0.986;0.998;0.986	P;P;P;P	0.50754	0.649;0.648;0.649;0.648	T	0.59198	-0.7499	10	0.72032	D	0.01	.	17.8446	0.88725	0.0:0.0:1.0:0.0	.	256;421;421;421	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	C	421;421;313;421;421;256	ENSP00000386711:R421C;ENSP00000282924:R421C;ENSP00000386925:R421C;ENSP00000386745:R256C	ENSP00000282924:R421C	R	-	1	0	JAKMIP1	6131608	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	4.360000	0.59455	2.445000	0.82738	0.655000	0.94253	CGC		0.567	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597																																					p.R320W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C958T	4						.						43.0	44.0	44.0					4																	7666085		2075	4192	6267	7716985	SO:0001583	missense	57537	exon7			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.958C>T	4.37:g.7666085C>T	ENSP00000422185:p.Arg320Trp	Somatic		Capture	Illumina HiSeq	Phase_I	7716985	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	SORCS2	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG		0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
SH3TC1	54436	broad.mit.edu	37	4	8239294	8239294	+	Missense_Mutation	SNP	A	A	C	rs571519965	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:8239294A>C	ENST00000245105.3	+	17	3717	c.3650A>C	c.(3649-3651)aAg>aCg	p.K1217T	SH3TC1_ENST00000539824.1_Missense_Mutation_p.K1141T	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1217								p.K1217T(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTCTACCTCAAGGCCCTGTCG	0.632													A|||	8	0.00159744	0.0	0.0	5008	,	,		18078	0.0		0.0	False		,,,				2504	0.0082				p.K1217T	NSCLC(145;2298 2623 35616 37297)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3650C	4						.						59.0	47.0	51.0					4																	8239294		2203	4300	6503	8290194	SO:0001583	missense	54436	exon17			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3650A>C	4.37:g.8239294A>C	ENSP00000245105:p.Lys1217Thr	Somatic		Capture	Illumina HiSeq	Phase_I	8290194	NM_018986	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400775	0.83120	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.79749	-1.19;-1.3	4.32	4.32	0.51571	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	M	0.80847	2.515	0.43103	D	0.994794	D	0.69078	0.997	D	0.70016	0.967	D	0.90575	0.4525	10	0.66056	D	0.02	-40.9942	13.6624	0.62374	1.0:0.0:0.0:0.0	.	1217	Q8TE82	S3TC1_HUMAN	T	1217;1141;1046	ENSP00000245105:K1217T;ENSP00000441045:K1141T	ENSP00000245105:K1217T	K	+	2	0	SH3TC1	8290194	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.728000	0.74769	1.827000	0.53221	0.454000	0.30748	AAG		0.632	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
ACOX3	8310	broad.mit.edu	37	4	8396360	8396360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:8396360C>T	ENST00000356406.5	-	10	1243	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000413009.2_Missense_Mutation_p.R389H|ACOX3_ENST00000503233.1_Missense_Mutation_p.R389H	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	389					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.R389H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCTGGCGCTGCGGTCTCCCGA	0.522																																					p.R389H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1166A	4						.						58.0	57.0	57.0					4																	8396360		2203	4300	6503	8447260	SO:0001583	missense	8310	exon10			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1166G>A	4.37:g.8396360C>T	ENSP00000348775:p.Arg389His	Somatic		Capture	Illumina HiSeq	Phase_I	8447260	NM_003501	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918698	0.33908	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96232	-3.95;-3.95;-3.95	4.18	-2.16	0.07080	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	2.086120	0.02337	N	0.074462	D	0.90988	0.7166	N	0.17631	0.505	0.20403	N	0.999906	B;B;B	0.19445	0.017;0.023;0.036	B;B;B	0.18561	0.006;0.005;0.022	T	0.82768	-0.0294	10	0.34782	T	0.22	-11.4004	5.2283	0.15408	0.0:0.2091:0.2946:0.4963	.	389;389;389	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	H	389	ENSP00000413994:R389H;ENSP00000348775:R389H;ENSP00000421625:R389H	ENSP00000348775:R389H	R	-	2	0	ACOX3	8447260	0.004000	0.15560	0.000000	0.03702	0.368000	0.29767	-0.100000	0.10990	-0.371000	0.08004	0.561000	0.74099	CGC		0.522	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
KCNIP4	80333	broad.mit.edu	37	4	21305447	21305447	+	Intron	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:21305447A>T	ENST00000382152.2	-	2	229				KCNIP4_ENST00000447367.2_Intron|RP11-120A1.1_ENST00000515680.2_RNA|KCNIP4_ENST00000382150.4_Missense_Mutation_p.I28N|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000509207.1_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I28N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ACCTGCTTCAATCAGCCCAAA	0.388																																					p.I28N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T83A	4						.						108.0	96.0	100.0					4																	21305447		2203	4300	6503	20914545	SO:0001627	intron_variant	80333	exon1			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.62-421115T>A	4.37:g.21305447A>T		Somatic		Capture	Illumina HiSeq	Phase_I	20914545	NM_147183	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081930	0.55861	.	.	ENSG00000185774	ENST00000382150	T	0.72394	-0.65	5.75	5.75	0.90469	.	.	.	.	.	T	0.57592	0.2064	N	0.19112	0.55	0.80722	D	1	B	0.28552	0.215	B	0.19391	0.025	T	0.59172	-0.7504	9	0.66056	D	0.02	.	16.0475	0.80731	1.0:0.0:0.0:0.0	.	28	Q3YAC0	.	N	28	ENSP00000371585:I28N	ENSP00000371585:I28N	I	-	2	0	KCNIP4	20914545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.584000	0.90798	2.193000	0.70182	0.528000	0.53228	ATT		0.388	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221	
SEPSECS	51091	broad.mit.edu	37	4	25146704	25146704	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:25146704A>C	ENST00000382103.2	-	7	928	c.856T>G	c.(856-858)Ttt>Gtt	p.F286V	SEPSECS_ENST00000302922.3_Missense_Mutation_p.F207V	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	286					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.F207V(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				GGAACCATAAAATTTTTGTCC	0.358																																					p.F286V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T856G	4						.						76.0	80.0	78.0					4																	25146704		2202	4299	6501	24755802	SO:0001583	missense	51091	exon7			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.856T>G	4.37:g.25146704A>C	ENSP00000371535:p.Phe286Val	Somatic		Capture	Illumina HiSeq	Phase_I	24755802	NM_016955	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496785	0.85069	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.85258	-1.96;-1.96	5.12	5.12	0.69794	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93236	0.7845	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94423	0.7642	10	0.72032	D	0.01	-23.2452	14.9027	0.70692	1.0:0.0:0.0:0.0	.	285;226;286	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	V	207;286	ENSP00000305956:F207V;ENSP00000371535:F286V	ENSP00000305956:F207V	F	-	1	0	SEPSECS	24755802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.481000	0.90437	1.923000	0.55706	0.528000	0.53228	TTT		0.358	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
ZCCHC4	29063	broad.mit.edu	37	4	25316954	25316954	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:25316954A>C	ENST00000302874.4	+	3	285	c.261A>C	c.(259-261)agA>agC	p.R87S	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	87							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R87S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CAGGAGCTAGACTTGCTGCCC	0.433																																					p.R87S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A261C	4						.						194.0	188.0	190.0					4																	25316954		1921	4120	6041	24926052	SO:0001583	missense	29063	exon3			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.261A>C	4.37:g.25316954A>C	ENSP00000303468:p.Arg87Ser	Somatic		Capture	Illumina HiSeq	Phase_I	24926052	NM_024936	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481394	0.84747	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.30714	1.52	5.72	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.68952	2.095	0.50313	D	0.999863	D	0.76494	0.999	D	0.65987	0.94	T	0.50591	-0.8810	10	0.72032	D	0.01	-11.3735	11.0096	0.47654	0.9253:0.0:0.0747:0.0	.	87	Q9H5U6	ZCHC4_HUMAN	S	87;63	ENSP00000303468:R87S	ENSP00000303468:R87S	R	+	3	2	ZCCHC4	24926052	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.061000	0.41403	0.974000	0.38366	0.533000	0.62120	AGA		0.433	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1		
STIM2	57620	broad.mit.edu	37	4	27003940	27003940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:27003940G>T	ENST00000467011.1	+	6	1152	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	STIM2_ENST00000237364.5_Nonsense_Mutation_p.E330*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000382009.3_Nonsense_Mutation_p.E330*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.E330*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	243					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.E330*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GACATCAAAAGAACATGTTGC	0.373																																					p.E243X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G727T	4						.						92.0	89.0	90.0					4																	27003940		2203	4299	6502	26613038	SO:0001587	stop_gained	57620	exon6			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.727G>T	4.37:g.27003940G>T	ENSP00000419383:p.Glu243*	Somatic		Capture	Illumina HiSeq	Phase_I	26613038	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	40	8.195741	0.98701	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	.	.	.	5.5	5.5	0.81552	.	0.104865	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.782	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	243;330;330;243;330;243	.	.	E	+	1	0	STIM2	26613038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.548000	0.60718	2.765000	0.95021	0.650000	0.86243	GAA		0.373	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
ARAP2	116984	broad.mit.edu	37	4	36212219	36212219	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:36212219C>A	ENST00000303965.4	-	6	1769	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	427					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R427I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGAATTTTTTCTTCTTAAACT	0.358																																					p.R427I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1280T	4						.						113.0	119.0	117.0					4																	36212219		2203	4299	6502	35888614	SO:0001583	missense	116984	exon6			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1280G>T	4.37:g.36212219C>A	ENSP00000302895:p.Arg427Ile	Somatic		Capture	Illumina HiSeq	Phase_I	35888614	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003267	0.74932	.	.	ENSG00000047365	ENST00000303965	T	0.09723	2.95	5.6	4.75	0.60458	.	0.155674	0.49305	D	0.000157	T	0.25644	0.0624	M	0.62723	1.935	0.46631	D	0.999133	P;D	0.71674	0.944;0.998	P;P	0.61940	0.497;0.896	T	0.00773	-1.1572	10	0.46703	T	0.11	.	11.9146	0.52757	0.0:0.918:0.0:0.082	.	357;427	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	I	427	ENSP00000302895:R427I	ENSP00000302895:R427I	R	-	2	0	ARAP2	35888614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.486000	0.35530	1.362000	0.46000	0.585000	0.79938	AGA		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
TBC1D1	23216	broad.mit.edu	37	4	38020052	38020052	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:38020052C>A	ENST00000261439.4	+	4	1315	c.960C>A	c.(958-960)tcC>tcA	p.S320S	TBC1D1_ENST00000508802.1_Silent_p.S320S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	320	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.S320S(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGGAGATATCCTTTTGCTCTC	0.303																																					p.S320S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C960A	4						.						62.0	66.0	64.0					4																	38020052		2203	4300	6503	37696447	SO:0001819	synonymous_variant	23216	exon4			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.960C>A	4.37:g.38020052C>A		Somatic		Capture	Illumina HiSeq	Phase_I	37696447	NM_015173	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1																																																																																				0.303	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
TBC1D1	23216	broad.mit.edu	37	4	38029478	38029478	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:38029478C>T	ENST00000261439.4	+	7	1635	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	TBC1D1_ENST00000508802.1_Missense_Mutation_p.A427V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	427					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.A427V(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CAGGAGCAGGCGACTATTTTT	0.378																																					p.A427V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1280T	4						.						69.0	69.0	69.0					4																	38029478		2203	4300	6503	37705873	SO:0001583	missense	23216	exon7			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1280C>T	4.37:g.38029478C>T	ENSP00000261439:p.Ala427Val	Somatic		Capture	Illumina HiSeq	Phase_I	37705873	NM_015173	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.89|16.89	3.248386|3.248386	0.59103|0.59103	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803|ENST00000513936	T;T;T|.	0.20332|.	3.43;3.83;2.08|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.56097|.	D|.	0.000039|.	T|.	0.65123|.	0.2661|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;B;P|.	0.64830|.	0.936;0.994;0.445;0.936|.	B;P;B;B|.	0.48677|.	0.334;0.586;0.03;0.334|.	T|.	0.64158|.	-0.6473|.	10|.	0.49607|.	T|.	0.09|.	-15.036|-15.036	11.657|11.657	0.51324|0.51324	0.0:0.9138:0.0:0.0862|0.0:0.9138:0.0:0.0862	.|.	427;427;159;427|.	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.;.;.;TBCD1_HUMAN|.	V|X	427;427;298|24	ENSP00000423651:A427V;ENSP00000261439:A427V;ENSP00000396877:A298V|.	ENSP00000261439:A427V|.	A|R	+|+	2|1	0|2	TBC1D1|TBC1D1	37705873|37705873	0.999000|0.999000	0.42202|0.42202	0.934000|0.934000	0.37439|0.37439	0.903000|0.903000	0.53119|0.53119	4.125000|4.125000	0.57931|0.57931	2.391000|2.391000	0.81399|0.81399	0.591000|0.591000	0.81541|0.81541	GCG|CGA		0.378	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
FAM114A1	92689	broad.mit.edu	37	4	38880033	38880033	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:38880033G>A	ENST00000358869.2	+	3	510	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	112						cytoplasm (GO:0005737)		p.E112K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCCTGCAAGAACAGAATTA	0.488																																					p.E112K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	4						.						57.0	55.0	56.0					4																	38880033		2199	4297	6496	38556428	SO:0001583	missense	92689	exon3				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.334G>A	4.37:g.38880033G>A	ENSP00000351740:p.Glu112Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38556428	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164573	0.38217	.	.	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.34072	1.38;2.83	4.73	4.73	0.59995	.	0.242716	0.41605	D	0.000850	T	0.36110	0.0955	M	0.63843	1.955	0.45415	D	0.998396	P	0.39060	0.657	B	0.35182	0.197	T	0.31024	-0.9958	10	0.46703	T	0.11	-14.4397	15.0597	0.71942	0.0:0.0:1.0:0.0	.	112	Q8IWE2	NXP20_HUMAN	K	112	ENSP00000422965:E112K;ENSP00000351740:E112K	ENSP00000351740:E112K	E	+	1	0	FAM114A1	38556428	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	5.276000	0.65580	2.606000	0.88127	0.491000	0.48974	GAA		0.488	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
WDR19	57728	broad.mit.edu	37	4	39246167	39246167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:39246167G>T	ENST00000399820.3	+	23	2794	c.2640G>T	c.(2638-2640)aaG>aaT	p.K880N	WDR19_ENST00000288634.7_Missense_Mutation_p.K720N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	880					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.K880N(1)		large_intestine(1)	1						TCCGCTCTAAGAATTGGTAAG	0.438																																					p.K880N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2640T	4						.						92.0	90.0	91.0					4																	39246167		1906	4110	6016	38922562	SO:0001583	missense	57728	exon23			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2640G>T	4.37:g.39246167G>T	ENSP00000382717:p.Lys880Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38922562	NM_025132	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477445	0.63849	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.77098	-1.07;-1.07	5.5	3.45	0.39498	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.85373	2.75	0.52501	D	0.999957	D	0.59357	0.985	P	0.60068	0.868	T	0.82155	-0.0597	10	0.19590	T	0.45	-22.2923	9.018	0.36182	0.2646:0.0:0.7354:0.0	.	880	Q8NEZ3	WDR19_HUMAN	N	880;720	ENSP00000382717:K880N;ENSP00000288634:K720N	ENSP00000288634:K720N	K	+	3	2	WDR19	38922562	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.228000	0.42981	1.320000	0.45209	0.585000	0.79938	AAG		0.438	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
RFC1	5981	broad.mit.edu	37	4	39352989	39352989	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:39352989C>A	ENST00000381897.1	-	2	244	c.111G>T	c.(109-111)aaG>aaT	p.K37N	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.K37N	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	37					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.K37N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTATTCCTTTCTTTGCTTTTA	0.269																																					p.K37N	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G111T	4						.						101.0	100.0	101.0					4																	39352989		2201	4297	6498	39029384	SO:0001583	missense	5981	exon2			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.111G>T	4.37:g.39352989C>A	ENSP00000371321:p.Lys37Asn	Somatic		Capture	Illumina HiSeq	Phase_I	39029384	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	c	18.05	3.536689	0.65085	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.28895	1.59;1.59	5.69	2.59	0.31030	.	0.235572	0.46442	D	0.000300	T	0.43500	0.1250	M	0.71581	2.175	0.34447	D	0.700216	D;D	0.59357	0.975;0.985	P;P	0.59171	0.717;0.853	T	0.55679	-0.8103	10	0.59425	D	0.04	-15.3642	5.6584	0.17654	0.0:0.5832:0.0:0.4168	.	37;37	P35251;P35251-2	RFC1_HUMAN;.	N	37	ENSP00000371321:K37N;ENSP00000261424:K37N	ENSP00000261424:K37N	K	-	3	2	RFC1	39029384	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.465000	0.22004	0.730000	0.32425	0.650000	0.86243	AAG		0.269	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
PDS5A	23244	broad.mit.edu	37	4	39927477	39927477	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:39927477C>A	ENST00000303538.8	-	5	1045	c.506G>T	c.(505-507)aGa>aTa	p.R169I	PDS5A_ENST00000503396.1_Missense_Mutation_p.R169I	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.R169I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GAAGAGAGTTCTAAAAAGCTG	0.259																																					p.R169I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506T	4						.						25.0	26.0	26.0					4																	39927477		1780	4037	5817	39603872	SO:0001583	missense	23244	exon5			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.506G>T	4.37:g.39927477C>A	ENSP00000303427:p.Arg169Ile	Somatic		Capture	Illumina HiSeq	Phase_I	39603872	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	c	19.94	3.919193	0.73098	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.69040	-0.18;-0.37	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.050981	0.85682	D	0.000000	T	0.72407	0.3456	L	0.59436	1.845	0.80722	D	1	P;P	0.45283	0.659;0.855	B;P	0.53006	0.419;0.715	T	0.70817	-0.4769	9	.	.	.	-14.4558	13.0903	0.59164	0.0:0.9268:0.0:0.0732	.	169;169	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	I	169	ENSP00000303427:R169I;ENSP00000426749:R169I	.	R	-	2	0	PDS5A	39603872	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.968000	0.49224	2.692000	0.91855	0.650000	0.86243	AGA		0.259	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
RHOH	399	broad.mit.edu	37	4	40245536	40245536	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:40245536G>A	ENST00000381799.5	+	3	1254	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	RHOH_ENST00000505618.1_Missense_Mutation_p.R177Q	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	177					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.R177Q(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GCCAGGAGACGAAACAGAAGG	0.527																																					p.R177Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	4						.						32.0	33.0	33.0					4																	40245536		2203	4300	6503	39921931	SO:0001583	missense	399	exon3			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.530G>A	4.37:g.40245536G>A	ENSP00000371219:p.Arg177Gln	Somatic		Capture	Illumina HiSeq	Phase_I	39921931	NM_004310		Missense_Mutation	SNP	ENST00000381799.5	37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	6.416	0.444863	0.12164	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.63580	-0.05;-0.05	6.03	4.3	0.51218	.	0.184661	0.35936	U	0.002886	T	0.41994	0.1183	N	0.12887	0.27	0.37252	D	0.906626	B	0.13145	0.007	B	0.01281	0.0	T	0.42344	-0.9457	10	0.41790	T	0.15	.	10.4219	0.44354	0.2106:0.0:0.7894:0.0	.	177	Q15669	RHOH_HUMAN	Q	177	ENSP00000425010:R177Q;ENSP00000371219:R177Q	ENSP00000371219:R177Q	R	+	2	0	RHOH	39921931	1.000000	0.71417	0.988000	0.46212	0.098000	0.18820	2.358000	0.44134	1.558000	0.49541	0.655000	0.94253	CGA		0.527	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310	
TMEM33	55161	broad.mit.edu	37	4	41937522	41937522	+	Silent	SNP	C	C	T	rs147689209		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:41937522C>T	ENST00000504986.1	+	1	386	c.21C>T	c.(19-21)aaC>aaT	p.N7N	TMEM33_ENST00000513702.1_Silent_p.N7N|TMEM33_ENST00000325094.5_Silent_p.N7N	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	7				N -> S (in Ref. 1; BAA91665). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)		p.N7N(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CGACCCCGAACGGCCCCCAAG	0.622																																					p.N7N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C21T	4						.						18.0	21.0	20.0					4																	41937522		2203	4299	6502	41632279	SO:0001819	synonymous_variant	55161	exon1			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.21C>T	4.37:g.41937522C>T		Somatic		Capture	Illumina HiSeq	Phase_I	41632279	NM_018126	B3KSS8|Q9H953	Silent	SNP	ENST00000504986.1	37	CCDS3464.1																																																																																				0.622	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126	
GABRA2	2555	broad.mit.edu	37	4	46314538	46314538	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:46314538C>A	ENST00000510861.1	-	5	624	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	GABRA2_ENST00000507069.1_Missense_Mutation_p.D151Y|GABRA2_ENST00000381620.4_Missense_Mutation_p.D151Y|GABRA2_ENST00000515082.1_Missense_Mutation_p.D151Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.D151Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.D151Y|GABRA2_ENST00000540012.1_Missense_Mutation_p.D96Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	151					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D151Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGAGTCCCATCATCCTGAATT	0.358																																					p.D151Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451T	4						.						133.0	132.0	132.0					4																	46314538		2203	4300	6503	46009295	SO:0001583	missense	2555	exon5				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.451G>T	4.37:g.46314538C>A	ENSP00000421828:p.Asp151Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	46009295	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752027	0.69533	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806	T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.85630	2.765	0.58432	D	0.999999	D;D;D	0.76494	0.997;0.999;0.976	D;D;D	0.70227	0.968;0.967;0.917	D	0.91613	0.5304	10	0.87932	D	0	.	19.147	0.93472	0.0:1.0:0.0:0.0	.	96;151;151	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	Y	151;151;151;151;96;151;151;151	ENSP00000421828:D151Y;ENSP00000421300:D151Y;ENSP00000371033:D151Y;ENSP00000348897:D151Y;ENSP00000444409:D96Y;ENSP00000427603:D151Y;ENSP00000423840:D151Y;ENSP00000424362:D151Y	ENSP00000348897:D151Y	D	-	1	0	GABRA2	46009295	0.995000	0.38212	1.000000	0.80357	0.916000	0.54674	2.544000	0.45761	2.770000	0.95276	0.563000	0.77884	GAT		0.358	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA4	2557	broad.mit.edu	37	4	46930528	46930528	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:46930528C>T	ENST00000264318.3	-	9	2361	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	460					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R460Q(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATATCCAGTTCGGATAGAAGT	0.453																																					p.R460Q	Ovarian(6;283 369 8234 12290 33402)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1379A	4						.						107.0	98.0	101.0					4																	46930528		2203	4300	6503	46625285	SO:0001583	missense	2557	exon9				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1379G>A	4.37:g.46930528C>T	ENSP00000264318:p.Arg460Gln	Somatic		Capture	Illumina HiSeq	Phase_I	46625285	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	4.639	0.118878	0.08881	.	.	ENSG00000109158	ENST00000264318	T	0.80824	-1.42	5.82	-0.503	0.12000	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.167070	0.00834	N	0.001691	T	0.63780	0.2540	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49082	-0.8976	10	0.16896	T	0.51	.	4.4361	0.11550	0.3109:0.3851:0.0:0.3041	.	460	P48169	GBRA4_HUMAN	Q	460	ENSP00000264318:R460Q	ENSP00000264318:R460Q	R	-	2	0	GABRA4	46625285	0.008000	0.16893	0.003000	0.11579	0.004000	0.04260	0.805000	0.27112	-0.019000	0.14055	-0.355000	0.07637	CGA		0.453	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
NFXL1	152518	broad.mit.edu	37	4	47857086	47857086	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:47857086C>A	ENST00000507489.1	-	20	2587	c.2411G>T	c.(2410-2412)aGa>aTa	p.R804I	NFXL1_ENST00000381538.3_Missense_Mutation_p.R804I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	804						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R804I(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTTTTTTATTCTTTTACAAGG	0.308																																					p.R804I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2411T	4						.						59.0	60.0	60.0					4																	47857086		2203	4293	6496	47551843	SO:0001583	missense	152518	exon20			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2411G>T	4.37:g.47857086C>A	ENSP00000422037:p.Arg804Ile	Somatic		Capture	Illumina HiSeq	Phase_I	47551843	NM_152995	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795703	0.90453	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.37411	1.2;1.2	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.64449	-0.6405	10	0.62326	D	0.03	-8.9341	20.1352	0.98024	0.0:1.0:0.0:0.0	.	804	Q6ZNB6	NFXL1_HUMAN	I	804	ENSP00000370949:R804I;ENSP00000422037:R804I	ENSP00000370949:R804I	R	-	2	0	NFXL1	47551843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.034000	0.70933	2.864000	0.98301	0.549000	0.68633	AGA		0.308	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	
ZAR1	326340	broad.mit.edu	37	4	48494977	48494977	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:48494977G>T	ENST00000327939.4	+	3	1119	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	360					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.R360I(1)		endometrium(1)|large_intestine(4)	5						CAGTTTTGCAGAACTTGTCAG	0.413																																					p.R360I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1079T	4						.						134.0	127.0	129.0					4																	48494977		2203	4300	6503	48189734	SO:0001583	missense	326340	exon3			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1079G>T	4.37:g.48494977G>T	ENSP00000329803:p.Arg360Ile	Somatic		Capture	Illumina HiSeq	Phase_I	48189734	NM_175619		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748617	0.89753	.	.	ENSG00000182223	ENST00000327939	T	0.23348	1.91	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52503	-0.8567	10	0.66056	D	0.02	-13.2724	19.3331	0.94299	0.0:0.0:1.0:0.0	.	360	Q86SH2	ZAR1_HUMAN	I	360	ENSP00000329803:R360I	ENSP00000329803:R360I	R	+	2	0	ZAR1	48189734	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.383000	0.97214	2.585000	0.87301	0.462000	0.41574	AGA		0.413	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
FRYL	285527	broad.mit.edu	37	4	48583469	48583469	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:48583469G>A	ENST00000503238.1	-	18	2139	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	FRYL_ENST00000506685.1_Missense_Mutation_p.R420W|FRYL_ENST00000358350.4_Missense_Mutation_p.R714W|FRYL_ENST00000264319.7_De_novo_Start_OutOfFrame|FRYL_ENST00000507711.1_Missense_Mutation_p.R714W|FRYL_ENST00000537810.1_Missense_Mutation_p.R714W			O94915	FRYL_HUMAN	FRY-like	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R714W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AATAAAGCCCGTATTTCTCTA	0.403																																					p.R714W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2140T	4						.						67.0	62.0	63.0					4																	48583469		1869	4108	5977	48278226	SO:0001583	missense	285527	exon21			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2140C>T	4.37:g.48583469G>A	ENSP00000426064:p.Arg714Trp	Somatic		Capture	Illumina HiSeq	Phase_I	48278226	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496448	0.85069	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.87	5.03	0.67393	.	0.000000	0.64402	U	0.000003	T	0.68504	0.3008	M	0.73962	2.25	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.973;0.999	T	0.73235	-0.4047	10	0.87932	D	0	.	14.694	0.69107	0.0:0.0:0.6866:0.3134	.	714;714	F2Z2S2;O94915	.;FRYL_HUMAN	W	714;714;714;714;420	ENSP00000426064:R714W;ENSP00000351113:R714W;ENSP00000441114:R714W;ENSP00000421584:R714W;ENSP00000425592:R420W	ENSP00000351113:R714W	R	-	1	2	FRYL	48278226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.356000	0.52269	1.615000	0.50252	0.655000	0.94253	CGG		0.403	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FRYL	285527	broad.mit.edu	37	4	48597714	48597714	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:48597714G>A	ENST00000503238.1	-	12	1140	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	FRYL_ENST00000506685.1_Splice_Site_p.R87C|FRYL_ENST00000358350.4_Splice_Site_p.R381C|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Splice_Site_p.R381C|FRYL_ENST00000537810.1_Splice_Site_p.R381C			O94915	FRYL_HUMAN	FRY-like	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R381C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCATAAGACGACTACAGGGA	0.348																																					p.R381C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1141T	4						.						68.0	60.0	63.0					4																	48597714		1855	4093	5948	48292471	SO:0001630	splice_region_variant	285527	exon15			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1140-1C>T	4.37:g.48597714G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48292471	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422198	0.96111	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.1	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	D	0.84520	0.5490	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.85387	0.1123	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	381;381	F2Z2S2;O94915	.;FRYL_HUMAN	C	381;381;381;381;87	ENSP00000426064:R381C;ENSP00000351113:R381C;ENSP00000441114:R381C;ENSP00000421584:R381C	ENSP00000351113:R381C	R	-	1	0	FRYL	48292471	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.834000	0.97654	0.650000	0.86243	CGT		0.348	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Missense_Mutation
OCIAD1	54940	broad.mit.edu	37	4	48834644	48834644	+	Start_Codon_SNP	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:48834644G>T	ENST00000381473.3	+	2	421	c.3G>T	c.(1-3)atG>atT	p.M1I	OCIAD1_ENST00000512981.1_Intron|OCIAD1_ENST00000509122.1_Start_Codon_SNP_p.M1I|OCIAD1_ENST00000425583.2_Start_Codon_SNP_p.M1I|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000508293.1_Start_Codon_SNP_p.M1I|OCIAD1_ENST00000396448.2_Start_Codon_SNP_p.M1I|OCIAD1_ENST00000264312.7_Start_Codon_SNP_p.M1I|OCIAD1_ENST00000513391.2_Start_Codon_SNP_p.M1I|OCIAD1_ENST00000444354.2_Start_Codon_SNP_p.M1I	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	1	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.M1I(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						CAGGAAAGATGAATGGGAGGG	0.338																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	4						.						136.0	155.0	148.0					4																	48834644		2203	4300	6503	48529401	SO:0001582	initiator_codon_variant	54940	exon2			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.3G>T	4.37:g.48834644G>T	ENSP00000370882:p.Met1Ile	Somatic		Capture	Illumina HiSeq	Phase_I	48529401	NM_001079840	C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039299	0.55003	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000511662;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.92;0.78;0.92;0.82;0.9;0.92;0.83;0.85;0.82;0.85;0.92;0.86;0.9;0.86;0.92;0.92	4.22	4.22	0.49857	.	0.111156	0.56097	D	0.000022	T	0.64238	0.2580	.	.	.	0.80722	D	1	P;B;B;P	0.50528	0.936;0.248;0.248;0.524	P;B;B;B	0.61201	0.885;0.097;0.097;0.095	T	0.68622	-0.5360	9	0.87932	D	0	-10.3181	12.2923	0.54825	0.0:0.0:1.0:0.0	.	1;1;1;1	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	I	1	ENSP00000423381:M1I;ENSP00000422171:M1I;ENSP00000423845:M1I;ENSP00000424252:M1I;ENSP00000420917:M1I;ENSP00000264312:M1I;ENSP00000379725:M1I;ENSP00000426386:M1I;ENSP00000426902:M1I;ENSP00000427389:M1I;ENSP00000370882:M1I;ENSP00000399656:M1I;ENSP00000425633:M1I;ENSP00000416943:M1I;ENSP00000423002:M1I;ENSP00000423909:M1I	ENSP00000264312:M1I	M	+	3	0	OCIAD1	48529401	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.013000	0.57138	2.319000	0.78375	0.655000	0.94253	ATG		0.338	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830	Missense_Mutation
LRRC66	339977	broad.mit.edu	37	4	52861989	52861989	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:52861989T>C	ENST00000343457.3	-	4	1205	c.1199A>G	c.(1198-1200)tAt>tGt	p.Y400C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	400						integral component of membrane (GO:0016021)		p.Y400C(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTGTCAACATAAGGCCTTGT	0.547																																					p.Y400C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1199G	4						.						65.0	67.0	67.0					4																	52861989		1966	4157	6123	52556746	SO:0001583	missense	339977	exon4			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1199A>G	4.37:g.52861989T>C	ENSP00000341944:p.Tyr400Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52556746	NM_001024611		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	8.654	0.899004	0.17686	.	.	ENSG00000188993	ENST00000343457	T	0.45668	0.89	4.67	2.15	0.27550	.	0.393161	0.18859	N	0.129192	T	0.30262	0.0759	L	0.56769	1.78	0.20926	N	0.999828	P	0.41673	0.759	B	0.35899	0.213	T	0.18209	-1.0344	10	0.37606	T	0.19	-4.8209	3.2107	0.06681	0.1861:0.1932:0.0:0.6207	.	400	Q68CR7	LRC66_HUMAN	C	400	ENSP00000341944:Y400C	ENSP00000341944:Y400C	Y	-	2	0	LRRC66	52556746	0.080000	0.21391	0.140000	0.22221	0.020000	0.10135	0.285000	0.18883	0.236000	0.21180	0.383000	0.25322	TAT		0.547	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
SCFD2	152579	broad.mit.edu	37	4	53786966	53786966	+	Missense_Mutation	SNP	G	G	A	rs149566585		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:53786966G>A	ENST00000401642.3	-	6	1766	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	SCFD2_ENST00000388940.4_Missense_Mutation_p.R545W	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	545					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.R545W(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCAATATCCCGAAGTGAAGTA	0.388																																					p.R545W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1633T	4						.	G	TRP/ARG	0,4406		0,0,2203	79.0	82.0	81.0		1633	2.2	0.5	4	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SCFD2	NM_152540.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	545/685	53786966	2,13004	2203	4300	6503	53481723	SO:0001583	missense	152579	exon6			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1633C>T	4.37:g.53786966G>A	ENSP00000384182:p.Arg545Trp	Somatic		Capture	Illumina HiSeq	Phase_I	53481723	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129831	0.21041	0.0	2.33E-4	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.80214	-1.17;-1.35	4.96	2.23	0.28157	.	0.211954	0.39475	N	0.001355	T	0.72590	0.3479	L	0.56769	1.78	0.32982	D	0.523853	B;B	0.11235	0.003;0.004	B;B	0.10450	0.003;0.005	T	0.69347	-0.5169	10	0.54805	T	0.06	.	5.0223	0.14367	0.1877:0.1727:0.6396:0.0	.	545;545	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	W	545	ENSP00000384182:R545W;ENSP00000373592:R545W	ENSP00000373592:R545W	R	-	1	2	SCFD2	53481723	0.998000	0.40836	0.545000	0.28153	0.349000	0.29174	0.905000	0.28504	0.354000	0.24105	0.561000	0.74099	CGG		0.388	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
KDR	3791	broad.mit.edu	37	4	55961023	55961023	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:55961023C>A	ENST00000263923.4	-	21	3212	c.2917G>T	c.(2917-2919)Gcc>Tcc	p.A973S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	973	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A973S(3)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGAGCTGGCTGAGCTCTGG	0.532			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.A973S			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G2917T	4						.						130.0	123.0	125.0					4																	55961023		2203	4300	6503	55655780	SO:0001583	missense	3791	exon21			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2917G>T	4.37:g.55961023C>A	ENSP00000263923:p.Ala973Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55655780	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936456	0.52972	.	.	ENSG00000128052	ENST00000263923	T	0.76578	-1.03	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.198079	0.48767	D	0.000180	T	0.60196	0.2250	N	0.11154	0.105	0.49389	D	0.999787	P	0.34837	0.472	B	0.33521	0.165	T	0.60239	-0.7302	10	0.16420	T	0.52	.	15.3582	0.74443	0.0:0.9315:0.0:0.0685	.	973	P35968	VGFR2_HUMAN	S	973	ENSP00000263923:A973S	ENSP00000263923:A973S	A	-	1	0	KDR	55655780	0.990000	0.36364	0.997000	0.53966	0.970000	0.65996	2.862000	0.48388	2.780000	0.95670	0.655000	0.94253	GCC		0.532	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
CLOCK	9575	broad.mit.edu	37	4	56304455	56304455	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:56304455A>C	ENST00000309964.4	-	21	2605	c.2355T>G	c.(2353-2355)ttT>ttG	p.F785L	CLOCK_ENST00000381322.1_Missense_Mutation_p.F785L|CLOCK_ENST00000513440.1_Missense_Mutation_p.F785L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	785	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F785L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTACCTGTAAAAATTGTTGCG	0.463																																					p.F785L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2355G	4						.						56.0	55.0	56.0					4																	56304455		2203	4300	6503	55999212	SO:0001583	missense	9575	exon22			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2355T>G	4.37:g.56304455A>C	ENSP00000308741:p.Phe785Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55999212	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505766	0.26949	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05786	3.39;3.39;3.39	5.65	0.633	0.17712	.	0.727614	0.13350	N	0.394513	T	0.07728	0.0194	M	0.67397	2.05	0.80722	D	1	B	0.15719	0.014	B	0.12156	0.007	T	0.09885	-1.0654	10	0.41790	T	0.15	.	5.6494	0.17608	0.3577:0.0:0.4916:0.1507	.	785	O15516	CLOCK_HUMAN	L	785	ENSP00000308741:F785L;ENSP00000370723:F785L;ENSP00000426983:F785L	ENSP00000308741:F785L	F	-	3	2	CLOCK	55999212	1.000000	0.71417	0.977000	0.42913	0.373000	0.29922	1.078000	0.30754	0.111000	0.17947	0.477000	0.44152	TTT		0.463	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
CLOCK	9575	broad.mit.edu	37	4	56344994	56344994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:56344994G>A	ENST00000309964.4	-	5	494	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CLOCK_ENST00000381322.1_Nonsense_Mutation_p.R82*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.R82*|CLOCK_ENST00000506923.1_5'Flank	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R82*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTATGTTTTCGTAaaaaatca	0.343																																					p.R82X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C244T	4						.						61.0	63.0	62.0					4																	56344994		2203	4294	6497	56039751	SO:0001587	stop_gained	9575	exon6			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.244C>T	4.37:g.56344994G>A	ENSP00000308741:p.Arg82*	Somatic		Capture	Illumina HiSeq	Phase_I	56039751	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	42	9.307196	0.99132	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.86	5.86	0.93980	.	0.117649	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000308741:R82X	R	-	1	2	CLOCK	56039751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.974000	0.56852	2.776000	0.95493	0.655000	0.94253	CGA		0.343	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
EXOC1	55763	broad.mit.edu	37	4	56765855	56765855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:56765855G>T	ENST00000381295.2	+	17	2490	c.2142G>T	c.(2140-2142)gaG>gaT	p.E714D	EXOC1_ENST00000349598.6_Missense_Mutation_p.E699D|EXOC1_ENST00000346134.7_Missense_Mutation_p.E714D	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	714					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E714D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTTAGTGGAGAAAGTAGCAA	0.308																																					p.E714D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2142T	4						.						92.0	107.0	102.0					4																	56765855		2203	4300	6503	56460612	SO:0001583	missense	55763	exon17			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2142G>T	4.37:g.56765855G>T	ENSP00000370695:p.Glu714Asp	Somatic		Capture	Illumina HiSeq	Phase_I	56460612	NM_001024924	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440474	0.43326	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.37	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	L	0.52011	1.625	0.58432	D	0.999992	B;B	0.31209	0.313;0.216	B;B	0.36464	0.13;0.225	T	0.34428	-0.9829	9	0.19590	T	0.45	.	10.6339	0.45554	0.2152:0.0:0.7848:0.0	.	699;714	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	D	714;714;699	.	ENSP00000326514:E714D	E	+	3	2	EXOC1	56460612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.280000	0.43443	0.624000	0.30286	0.650000	0.86243	GAG		0.308	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
CEP135	9662	broad.mit.edu	37	4	56884001	56884001	+	Missense_Mutation	SNP	C	C	T	rs146076380	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:56884001C>T	ENST00000257287.4	+	22	3114	c.2990C>T	c.(2989-2991)tCg>tTg	p.S997L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	997					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.S997L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CAATTGAATTCGAAAAACCTT	0.338													C|||	16	0.00319489	0.0121	0.0	5008	,	,		18486	0.0		0.0	False		,,,				2504	0.0				p.S997L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2990T	4						.	C	LEU/SER	41,4365	42.3+/-75.8	0,41,2162	41.0	45.0	43.0		2990	5.7	1.0	4	dbSNP_134	43	0,8600		0,0,4300	yes	missense	CEP135	NM_025009.3	145	0,41,6462	TT,TC,CC		0.0,0.9305,0.3152	possibly-damaging	997/1141	56884001	41,12965	2203	4300	6503	56578758	SO:0001583	missense	9662	exon22			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2990C>T	4.37:g.56884001C>T	ENSP00000257287:p.Ser997Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56578758	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	13.62	2.290685	0.40494	0.009305	0.0	ENSG00000174799	ENST00000257287	T	0.14144	2.53	5.67	5.67	0.87782	.	0.520191	0.21075	N	0.080595	T	0.10594	0.0259	M	0.70595	2.14	0.34887	D	0.745143	P	0.37038	0.579	B	0.26517	0.07	T	0.16541	-1.0399	10	0.31617	T	0.26	.	13.0205	0.58784	0.0:0.9269:0.0:0.0731	.	997	Q66GS9	CP135_HUMAN	L	997	ENSP00000257287:S997L	ENSP00000257287:S997L	S	+	2	0	CEP135	56578758	0.985000	0.35326	0.967000	0.41034	0.355000	0.29361	4.530000	0.60595	2.677000	0.91161	0.655000	0.94253	TCG		0.338	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
AASDH	132949	broad.mit.edu	37	4	57215676	57215676	+	Silent	SNP	C	C	T	rs147133663		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:57215676C>T	ENST00000205214.6	-	11	2421	c.2241G>A	c.(2239-2241)gcG>gcA	p.A747A	AASDH_ENST00000451613.1_Silent_p.A747A|AASDH_ENST00000502617.1_Silent_p.A747A|AASDH_ENST00000513376.1_Silent_p.A647A|AASDH_ENST00000434343.2_Silent_p.A262A|AASDH_ENST00000602986.1_Silent_p.A594A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	747			A -> V (in dbSNP:rs3796544). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.A747A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAGTCCCTATCGCAGGTTTCC	0.418																																					p.A747A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2241A	4						.	C		0,4406		0,0,2203	126.0	121.0	123.0		2241	1.3	0.0	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AASDH	NM_181806.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		747/1099	57215676	1,13005	2203	4300	6503	56910433	SO:0001819	synonymous_variant	132949	exon11			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2241G>A	4.37:g.57215676C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56910433	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	CCDS3504.1																																																																																				0.418	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
AASDH	132949	broad.mit.edu	37	4	57244315	57244315	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:57244315G>A	ENST00000205214.6	-	4	847	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	AASDH_ENST00000451613.1_Splice_Site_p.R223W|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000502617.1_Splice_Site_p.R223W|AASDH_ENST00000513376.1_Splice_Site_p.R123W|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Splice_Site_p.R70W	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	223					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.R223W(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGAACTTACCGAAAATGCTGG	0.448																																					p.R223W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	4						.						129.0	115.0	120.0					4																	57244315		2203	4300	6503	56939072	SO:0001630	splice_region_variant	132949	exon4			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.668+1C>T	4.37:g.57244315G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56939072	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543183	0.65198	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.82	5.82	0.92795	AMP-dependent synthetase/ligase (1);	0.344624	0.29861	N	0.011013	T	0.65801	0.2726	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.75020	0.951;0.946;0.974;0.985	T	0.68424	-0.5412	10	0.87932	D	0	-3.0191	15.5838	0.76465	0.0:0.0:0.8617:0.1383	.	70;223;223;223	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	W	223;123;223;70;223	ENSP00000205214:R223W;ENSP00000423760:R123W;ENSP00000409656:R223W;ENSP00000421171:R223W	ENSP00000205214:R223W	R	-	1	2	AASDH	56939072	0.988000	0.35896	0.998000	0.56505	0.397000	0.30659	2.459000	0.45023	2.756000	0.94617	0.561000	0.74099	CGG		0.448	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	Missense_Mutation
SRP72	6731	broad.mit.edu	37	4	57367903	57367903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:57367903C>T	ENST00000342756.5	+	19	2613	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	SRP72_ENST00000510663.1_Missense_Mutation_p.A570V	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	631					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.A631V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTGGCAGTGCTGCAACAGTA	0.468																																					p.A631V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1892T	4						.						59.0	57.0	58.0					4																	57367903		2203	4300	6503	57062660	SO:0001583	missense	6731	exon19			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1892C>T	4.37:g.57367903C>T	ENSP00000342181:p.Ala631Val	Somatic		Capture	Illumina HiSeq	Phase_I	57062660	NM_006947	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161715	0.38119	.	.	ENSG00000174780	ENST00000342756;ENST00000510663	T;T	0.79247	-1.19;-1.25	5.8	4.94	0.65067	.	0.285424	0.40302	N	0.001132	T	0.60157	0.2247	N	0.17474	0.49	0.30126	N	0.805217	B;B	0.12630	0.006;0.001	B;B	0.15870	0.014;0.002	T	0.54576	-0.8273	10	0.28530	T	0.3	.	8.0598	0.30627	0.0:0.755:0.1618:0.0833	.	570;631	G5E9Z8;O76094	.;SRP72_HUMAN	V	631;570	ENSP00000342181:A631V;ENSP00000424576:A570V	ENSP00000342181:A631V	A	+	2	0	SRP72	57062660	0.841000	0.29509	0.972000	0.41901	0.986000	0.74619	1.365000	0.34182	1.416000	0.47057	0.455000	0.32223	GCT		0.468	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		
LPHN3	23284	broad.mit.edu	37	4	62758610	62758610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:62758610G>T	ENST00000514591.1	+	9	1842	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	LPHN3_ENST00000506700.1_Nonsense_Mutation_p.E505*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.E505*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.E505*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.E573*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.E505*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.E573*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.E573*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.E573*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.E573*|LPHN3_ENST00000512091.2_Nonsense_Mutation_p.E505*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.E573*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.E505*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.E505*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.E573*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	505					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.E505*(2)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGAAGCCCGAGAAATCATGTG	0.488																																					p.E505X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1513T	4						.						62.0	60.0	61.0					4																	62758610		1947	4150	6097	62441205	SO:0001587	stop_gained	23284	exon7			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1513G>T	4.37:g.62758610G>T	ENSP00000422533:p.Glu505*	Somatic		Capture	Illumina HiSeq	Phase_I	62441205	NM_015236	E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	40	8.071564	0.98640	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.	.	.	5.83	5.0	0.66597	.	0.208574	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.0166	0.64527	0.0721:0.0:0.9279:0.0	.	.	.	.	X	505;505;573;573;505;505;505;505;505;573;573;573;505;505;505;573;573;505	.	ENSP00000280009:E505X	E	+	1	0	LPHN3	62441205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.588000	0.60999	1.481000	0.48307	0.563000	0.77884	GAA		0.488	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62910205	62910205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:62910205G>A	ENST00000514591.1	+	24	3877	c.3548G>A	c.(3547-3549)cGa>cAa	p.R1183Q	LPHN3_ENST00000506700.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R1183Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1242Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R1183Q(8)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GACACGGTTCGAAAGCAGTCA	0.383																																					p.R1183Q												.	.	8	Substitution - Missense(8)	large_intestine(8)	c.G3548A	4						.						51.0	51.0	51.0					4																	62910205		1917	4140	6057	62592800	SO:0001583	missense	23284	exon22			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3548G>A	4.37:g.62910205G>A	ENSP00000422533:p.Arg1183Gln	Somatic		Capture	Illumina HiSeq	Phase_I	62592800	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237803	0.79800	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74209	-0.64;-0.77;-0.67;-0.65;-0.63;-0.77;-0.68;-0.7;-0.79;-0.66;-0.68;-0.79;-0.82;-0.79;-0.77	6.08	5.22	0.72569	GPCR, family 2, latrophilin, C-terminal (1);	0.063748	0.64402	D	0.000014	D	0.85053	0.5609	M	0.65975	2.015	0.51012	D	0.999903	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.99	D	0.86724	0.1944	10	0.72032	D	0.01	.	16.6528	0.85221	0.0:0.0:0.8692:0.1308	.	1183;1161;1183	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Q	1183;1183;1251;1242;1174;1183;1161;1183;1242;1251;1242;1174;1183;1183;1251;1242;1174	ENSP00000423388:R1183Q;ENSP00000422533:R1183Q;ENSP00000423787:R1251Q;ENSP00000425033:R1242Q;ENSP00000424120:R1174Q;ENSP00000439831:R1183Q;ENSP00000421476:R1242Q;ENSP00000424030:R1251Q;ENSP00000421372:R1242Q;ENSP00000425201:R1174Q;ENSP00000423434:R1183Q;ENSP00000421627:R1183Q;ENSP00000420931:R1251Q;ENSP00000425884:R1242Q;ENSP00000424258:R1174Q	ENSP00000280009:R1183Q	R	+	2	0	LPHN3	62592800	1.000000	0.71417	0.959000	0.39883	0.443000	0.32047	9.476000	0.97823	1.534000	0.49203	0.655000	0.94253	CGA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
EPHA5	2044	broad.mit.edu	37	4	66231668	66231668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:66231668C>A	ENST00000273854.3	-	11	2632	c.2032G>T	c.(2032-2034)Gag>Tag	p.E678*	EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E515*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E679*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E656*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.E678*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATAACTCTCTCAATGGTGATA	0.393										TSP Lung(17;0.13)																											p.E678X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2032T	4						.						240.0	193.0	209.0					4																	66231668		2203	4300	6503	65914263	SO:0001587	stop_gained	2044	exon11			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2032G>T	4.37:g.66231668C>A	ENSP00000273854:p.Glu678*	Somatic		Capture	Illumina HiSeq	Phase_I	65914263	NM_004439	Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	46	12.265272	0.99652	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.478	0.94996	0.0:1.0:0.0:0.0	.	.	.	.	X	678;515;656;679	.	ENSP00000273854:E678X	E	-	1	0	EPHA5	65914263	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.086000	0.71352	2.609000	0.88269	0.557000	0.71058	GAG		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
EPHA5	2044	broad.mit.edu	37	4	66286258	66286258	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:66286258T>G	ENST00000273854.3	-	6	2028	c.1428A>C	c.(1426-1428)aaA>aaC	p.K476N	EPHA5_ENST00000432638.2_Missense_Mutation_p.K312N|EPHA5_ENST00000511294.1_Missense_Mutation_p.K476N|EPHA5_ENST00000354839.4_Missense_Mutation_p.K476N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	476	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.K476N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCCCTTTTTTCACATTGG	0.353										TSP Lung(17;0.13)																											p.K476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1428C	4						.						145.0	133.0	137.0					4																	66286258		2203	4300	6503	65968853	SO:0001583	missense	2044	exon6			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1428A>C	4.37:g.66286258T>G	ENSP00000273854:p.Lys476Asn	Somatic		Capture	Illumina HiSeq	Phase_I	65968853	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238170	0.58886	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.17	2.57	0.30868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.66307	0.2776	M	0.62723	1.935	0.44694	D	0.99768	P;B;P;P	0.46578	0.88;0.249;0.855;0.737	P;B;P;P	0.59221	0.854;0.348;0.772;0.499	T	0.64179	-0.6468	10	0.66056	D	0.02	.	8.3569	0.32335	0.0:0.2241:0.0:0.7759	.	476;476;476;476	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	N	476;312;476;476	ENSP00000273854:K476N;ENSP00000389208:K312N;ENSP00000346899:K476N;ENSP00000427638:K476N	ENSP00000273854:K476N	K	-	3	2	EPHA5	65968853	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.984000	0.29565	0.250000	0.21479	0.383000	0.25322	AAA		0.353	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
TMPRSS11B	132724	broad.mit.edu	37	4	69107480	69107480	+	Silent	SNP	C	C	T	rs371254373		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:69107480C>T	ENST00000332644.5	-	2	212	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	17						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.T17T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAATAAAGATCGTAGTCCATA	0.388																																					p.T17T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G51A	4						.	C		1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	76.0		51	-8.4	0.0	4		76	0,8600		0,0,4300	no	coding-synonymous	TMPRSS11B	NM_182502.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		17/417	69107480	1,13005	2203	4300	6503	68790075	SO:0001819	synonymous_variant	132724	exon2			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.51G>A	4.37:g.69107480C>T		Somatic		Capture	Illumina HiSeq	Phase_I	68790075	NM_182502	A8K4D9	Silent	SNP	ENST00000332644.5	37	CCDS3521.1																																																																																				0.388	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
UGT2B17	7367	broad.mit.edu	37	4	69433848	69433848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:69433848C>T	ENST00000317746.2	-	1	397	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	119					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.E119K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TCAGAATATTCCCAACACAAT	0.294																																					p.E119K	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	4						.						68.0	77.0	74.0					4																	69433848		2052	3912	5964	69116443	SO:0001583	missense	7367	exon1			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.355G>A	4.37:g.69433848C>T	ENSP00000320401:p.Glu119Lys	Somatic		Capture	Illumina HiSeq	Phase_I	69116443	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	c	3.034	-0.198959	0.06219	.	.	ENSG00000197888	ENST00000317746	T	0.59638	0.25	2.66	-4.11	0.03928	.	4.500260	0.00923	N	0.002605	T	0.32255	0.0823	N	0.12471	0.22	0.09310	N	1	.	.	.	.	.	.	T	0.13045	-1.0524	8	0.11485	T	0.65	.	4.9146	0.13840	0.0:0.2064:0.3087:0.4849	.	.	.	.	K	119	ENSP00000320401:E119K	ENSP00000320401:E119K	E	-	1	0	UGT2B17	69116443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.235000	0.02928	-0.747000	0.04759	-1.360000	0.01215	GAA		0.294	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
UGT2A3	79799	broad.mit.edu	37	4	69795617	69795617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:69795617C>T	ENST00000251566.4	-	6	1528	c.1498G>A	c.(1498-1500)Gca>Aca	p.A500T	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A211T	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	500					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A500T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATAGCAGTTGCCACACAGGCC	0.418																																					p.A500T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1498A	4						.						60.0	59.0	59.0					4																	69795617		2203	4300	6503	69830206	SO:0001583	missense	79799	exon6				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1498G>A	4.37:g.69795617C>T	ENSP00000251566:p.Ala500Thr	Somatic		Capture	Illumina HiSeq	Phase_I	69830206	NM_024743	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	7.591	0.670694	0.14776	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61274	0.12;0.12	2.05	1.17	0.20885	.	0.511218	0.19536	N	0.111920	T	0.49047	0.1534	L	0.42529	1.33	0.22479	N	0.999063	P	0.44044	0.825	P	0.46299	0.511	T	0.33701	-0.9858	10	0.34782	T	0.22	.	6.2594	0.20891	0.0:0.8259:0.0:0.1741	.	500	Q6UWM9	UD2A3_HUMAN	T	500;211	ENSP00000251566:A500T;ENSP00000440115:A211T	ENSP00000251566:A500T	A	-	1	0	UGT2A3	69830206	.	.	0.097000	0.21041	0.125000	0.20455	.	.	0.201000	0.20466	0.313000	0.20887	GCA		0.418	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
UGT2A3	79799	broad.mit.edu	37	4	69811043	69811043	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:69811043G>T	ENST00000251566.4	-	2	875	c.845C>A	c.(844-846)cCt>cAt	p.P282H	UGT2A3_ENST00000420231.2_De_novo_Start_InFrame	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	282					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P282H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTTTGGCAGGTTTACAGTG	0.358																																					p.P282H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C845A	4						.						102.0	91.0	95.0					4																	69811043		2203	4299	6502	69845632	SO:0001583	missense	79799	exon2				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.845C>A	4.37:g.69811043G>T	ENSP00000251566:p.Pro282His	Somatic		Capture	Illumina HiSeq	Phase_I	69845632	NM_024743	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947886	0.34377	.	.	ENSG00000135220	ENST00000251566	T	0.61392	0.11	3.24	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.82350	-0.0501	10	0.62326	D	0.03	.	12.2857	0.54791	0.0:0.0:1.0:0.0	.	282	Q6UWM9	UD2A3_HUMAN	H	282	ENSP00000251566:P282H	ENSP00000251566:P282H	P	-	2	0	UGT2A3	69845632	1.000000	0.71417	0.975000	0.42487	0.061000	0.15899	7.534000	0.82004	1.802000	0.52723	0.491000	0.48974	CCT		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
UGT2A3	79799	broad.mit.edu	37	4	69817414	69817414	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:69817414A>C	ENST00000251566.4	-	1	95	c.65T>G	c.(64-66)tTc>tGc	p.F22C	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	22					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F22C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTCCCACAGAATCCACAGCC	0.488																																					p.F22C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T65G	4						.						66.0	63.0	64.0					4																	69817414		2203	4300	6503	69852003	SO:0001583	missense	79799	exon1				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.65T>G	4.37:g.69817414A>C	ENSP00000251566:p.Phe22Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69852003	NM_024743	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277374	0.40294	.	.	ENSG00000135220	ENST00000251566	T	0.60040	0.22	4.61	-9.21	0.00678	.	0.708385	0.13435	N	0.388093	T	0.42404	0.1201	N	0.20986	0.625	0.09310	N	0.999996	D	0.62365	0.991	P	0.55785	0.784	T	0.49652	-0.8917	10	0.38643	T	0.18	.	4.218	0.10544	0.1037:0.2728:0.4057:0.2179	.	22	Q6UWM9	UD2A3_HUMAN	C	22	ENSP00000251566:F22C	ENSP00000251566:F22C	F	-	2	0	UGT2A3	69852003	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-1.972000	0.01502	-2.648000	0.00425	0.402000	0.26972	TTC		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
UGT2A1	10941	broad.mit.edu	37	4	70455340	70455340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:70455340C>A	ENST00000503640.1	-	6	1389	c.1334G>T	c.(1333-1335)aGa>aTa	p.R445I	UGT2A1_ENST00000286604.4_Missense_Mutation_p.R445I|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R401I|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R454I|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R611I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	445					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R445I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATGGTGAATTCTTGATAACCT	0.388																																					p.R445I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334T	4						.						93.0	98.0	96.0					4																	70455340		2203	4300	6503	70489929	SO:0001583	missense	10941	exon6			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1334G>T	4.37:g.70455340C>A	ENSP00000424478:p.Arg445Ile	Somatic		Capture	Illumina HiSeq	Phase_I	70489929	NM_006798	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398227	0.42512	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.14	4.65	2.86	0.33363	.	0.487972	0.21819	N	0.068644	T	0.55970	0.1954	L	0.48218	1.51	.	.	.	D;B;B;B;B	0.54772	0.968;0.171;0.006;0.001;0.006	P;B;B;B;B	0.45998	0.5;0.112;0.005;0.001;0.003	T	0.66818	-0.5827	9	0.66056	D	0.02	.	8.4091	0.32634	0.0:0.753:0.157:0.09	.	611;611;401;454;445	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	I	454;445;401;611;445	ENSP00000387888:R454I;ENSP00000424478:R445I;ENSP00000421432:R401I;ENSP00000425497:R611I;ENSP00000286604:R445I	ENSP00000286604:R445I	R	-	2	0	UGT2A1	70489929	0.000000	0.05858	0.961000	0.40146	0.892000	0.51952	0.008000	0.13197	0.623000	0.30267	0.579000	0.79373	AGA		0.388	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
SULT1E1	6783	broad.mit.edu	37	4	70721061	70721061	+	Nonsense_Mutation	SNP	G	G	A	rs143726522	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:70721061G>A	ENST00000226444.3	-	3	341	c.229C>T	c.(229-231)Cga>Tga	p.R77*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.R77*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AAAGGTATTCGATTAAAAATT	0.308																																					p.R77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C229T	4						.						143.0	138.0	140.0					4																	70721061		2203	4300	6503	70755650	SO:0001587	stop_gained	6783	exon3			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.229C>T	4.37:g.70721061G>A	ENSP00000226444:p.Arg77*	Somatic		Capture	Illumina HiSeq	Phase_I	70755650	NM_005420	Q8N6X5	Nonsense_Mutation	SNP	ENST00000226444.3	37	CCDS3531.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.82	1.751784	0.31046	.	.	ENSG00000109193	ENST00000226444	.	.	.	4.01	-1.55	0.08558	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5221	0.56065	0.0:0.0:0.2483:0.7517	.	.	.	.	X	77	.	ENSP00000226444:R77X	R	-	1	2	SULT1E1	70755650	0.006000	0.16342	0.065000	0.19835	0.001000	0.01503	-0.056000	0.11787	-0.355000	0.08199	-0.182000	0.12963	CGA		0.308	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420	
ODAM	54959	broad.mit.edu	37	4	71062448	71062448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:71062448G>T	ENST00000396094.2	+	2	139	c.91G>T	c.(91-93)Gag>Tag	p.E31*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323																																					p.E31X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G91T	4						.						56.0	51.0	52.0					4																	71062448		1818	4080	5898	71097037	SO:0001587	stop_gained	54959	exon2			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.91G>T	4.37:g.71062448G>T	ENSP00000379401:p.Glu31*	Somatic		Capture	Illumina HiSeq	Phase_I	71097037	NM_017855	Q8WWE5|Q9NWZ9	Nonsense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005196	0.74932	.	.	ENSG00000109205	ENST00000396094	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0321	14.5147	0.67811	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000379401:E31X	E	+	1	0	ODAM	71097037	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.235000	0.58666	2.804000	0.96469	0.650000	0.86243	GAG		0.323	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	
RUFY3	22902	broad.mit.edu	37	4	71654649	71654649	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:71654649G>T	ENST00000226328.4	+	11	1761	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	RUFY3_ENST00000381006.3_Missense_Mutation_p.D400Y|RUFY3_ENST00000536664.1_Missense_Mutation_p.D384Y|RUFY3_ENST00000502653.1_Missense_Mutation_p.D347Y|RUFY3_ENST00000417478.2_Missense_Mutation_p.D460Y	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	400					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.D400Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GCAGCTGGATGACCTCAGAGC	0.507																																					p.D400Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1198T	4						.						116.0	104.0	108.0					4																	71654649		2203	4300	6503	71873513	SO:0001583	missense	22902	exon11			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1198G>T	4.37:g.71654649G>T	ENSP00000226328:p.Asp400Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	71873513	NM_014961	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721548	0.89298	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;1.0	D;D;P;D	0.83275	0.91;0.996;0.888;0.981	T	0.04360	-1.0957	10	0.87932	D	0	-19.814	19.6014	0.95563	0.0:0.0:1.0:0.0	.	384;400;400;460	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	Y	460;400;400;384;347	ENSP00000399771:D460Y;ENSP00000370394:D400Y;ENSP00000226328:D400Y;ENSP00000443652:D384Y;ENSP00000425400:D347Y	ENSP00000226328:D400Y	D	+	1	0	RUFY3	71873513	1.000000	0.71417	0.963000	0.40424	0.978000	0.69477	9.476000	0.97823	2.622000	0.88805	0.650000	0.86243	GAC		0.507	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961	
RUFY3	22902	broad.mit.edu	37	4	71659518	71659518	+	IGR	SNP	C	C	T	rs201645745		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:71659518C>T	ENST00000226328.4	+	0	4233				RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R452*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R399*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCAGGCTGAGCGAAGCCGCCA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16337	0.0		0.0	False		,,,				2504	0.0				p.R452X												.	.	0			c.C1354T	4						.						45.0	44.0	45.0					4																	71659518		2203	4300	6503	71878382	SO:0001628	intergenic_variant	22902	exon13			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71659518C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71878382	NM_001037442	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	38	7.025250	0.98010	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	.	.	.	5.88	5.88	0.94601	.	0.259261	0.31821	N	0.007017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-2.7675	13.158	0.59529	0.2633:0.7367:0.0:0.0	.	.	.	.	X	452;399	.	ENSP00000370394:R452X	R	+	1	2	RUFY3	71878382	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.053000	0.64269	2.780000	0.95670	0.655000	0.94253	CGA		0.483	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961	
DCK	1633	broad.mit.edu	37	4	71892391	71892391	+	Silent	SNP	C	C	T	rs564522050		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:71892391C>T	ENST00000286648.5	+	6	1072	c.675C>T	c.(673-675)ttC>ttT	p.F225F	DCK_ENST00000504952.1_Silent_p.F225F|DCK_ENST00000504730.1_Nonsense_Mutation_p.R187*	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	225					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)	p.F225F(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GAACCAACTTCGATTATCTTC	0.294													C|||	1	0.000199681	0.0	0.0	5008	,	,		15414	0.0		0.0	False		,,,				2504	0.001				p.F225F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C675T	4						.						41.0	43.0	42.0					4																	71892391		2202	4287	6489	72111255	SO:0001819	synonymous_variant	1633	exon6			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.675C>T	4.37:g.71892391C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72111255	NM_000788	B2R8V6|Q5TZY7|Q6FI11	Silent	SNP	ENST00000286648.5	37	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677968	0.88445	.	.	ENSG00000156136	ENST00000504730	.	.	.	5.78	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1005	0.48170	0.0:0.0736:0.0:0.9264	.	.	.	.	X	187	.	ENSP00000425578:R187X	R	+	1	2	DCK	72111255	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	4.820000	0.62671	1.030000	0.39839	-0.469000	0.05056	CGA		0.294	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2		
SLC4A4	8671	broad.mit.edu	37	4	72317017	72317017	+	Splice_Site	SNP	C	C	T	rs530167253		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:72317017C>T	ENST00000264485.5	+	11	1438	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SLC4A4_ENST00000351898.6_Splice_Site_p.R441W|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Splice_Site_p.R441W|SLC4A4_ENST00000340595.3_Splice_Site_p.R397W|SLC4A4_ENST00000512686.1_Splice_Site_p.R397W	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	441					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R397W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCGAACTGGACGGTAACTGAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19879	0.0		0.0	False		,,,				2504	0.001				p.R441W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1321T	4						.						205.0	161.0	176.0					4																	72317017		2203	4300	6503	72535881	SO:0001630	splice_region_variant	8671	exon11			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1322+1C>T	4.37:g.72317017C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72535881	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125221	0.56721	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	6.08	1.91	0.25777	Bicarbonate transporter, C-terminal (1);	0.042903	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;P;D;D	0.91635	0.993;0.999;0.98;0.901;0.982;0.973	D	0.93676	0.6994	10	0.87932	D	0	.	15.7218	0.77718	0.6097:0.3903:0.0:0.0	.	441;441;397;397;421;441	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	W	441;441;441;397;397	ENSP00000264485:R441W;ENSP00000393557:R441W;ENSP00000307349:R441W;ENSP00000422400:R397W;ENSP00000344272:R397W	ENSP00000264485:R441W	R	+	1	2	SLC4A4	72535881	0.995000	0.38212	1.000000	0.80357	0.361000	0.29550	0.958000	0.29227	0.424000	0.26061	-0.122000	0.15005	CGG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Missense_Mutation
GC	2638	broad.mit.edu	37	4	72623783	72623783	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:72623783G>T	ENST00000273951.8	-	7	1150	c.807C>A	c.(805-807)gcC>gcA	p.A269A	GC_ENST00000513476.1_Silent_p.A269A|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.A288A|RNA5SP163_ENST00000410304.1_RNA	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	269	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.A269A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AATCTTCAGAGGCAGACTCAC	0.433																																					p.A269A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807A	4						.						119.0	108.0	112.0					4																	72623783		2203	4300	6503	72842647	SO:0001819	synonymous_variant	2638	exon7			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.807C>A	4.37:g.72623783G>T		Somatic		Capture	Illumina HiSeq	Phase_I	72842647	NM_000583	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	CCDS3550.1																																																																																				0.433	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		
ADAMTS3	9508	broad.mit.edu	37	4	73179473	73179473	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:73179473A>G	ENST00000286657.4	-	12	1702	c.1666T>C	c.(1666-1668)Tca>Cca	p.S556P		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	556	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S556P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAGTCCATGACCCCCAATTG	0.403																																					p.S556P	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1666C	4						.						145.0	113.0	123.0					4																	73179473		2203	4300	6503	73398337	SO:0001583	missense	9508	exon12			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1666T>C	4.37:g.73179473A>G	ENSP00000286657:p.Ser556Pro	Somatic		Capture	Illumina HiSeq	Phase_I	73398337	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571124	0.28003	.	.	ENSG00000156140	ENST00000286657	T	0.49139	0.79	6.02	6.02	0.97574	.	0.328330	0.28718	N	0.014367	T	0.25865	0.0630	N	0.10645	0.015	0.42552	D	0.993117	B	0.22541	0.071	B	0.30782	0.12	T	0.23190	-1.0195	10	0.10636	T	0.68	.	7.3756	0.26827	0.7762:0.1467:0.0771:0.0	.	556	O15072	ATS3_HUMAN	P	556	ENSP00000286657:S556P	ENSP00000286657:S556P	S	-	1	0	ADAMTS3	73398337	0.957000	0.32711	0.995000	0.50966	0.951000	0.60555	1.671000	0.37513	2.304000	0.77564	0.528000	0.53228	TCA		0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ADAMTS3	9508	broad.mit.edu	37	4	73280559	73280559	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:73280559C>A	ENST00000286657.4	-	4	670	c.634G>T	c.(634-636)Gac>Tac	p.D212Y		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	212					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D212Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGACATGTCTATGGGAGCC	0.378																																					p.D212Y	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634T	4						.						155.0	146.0	149.0					4																	73280559		2203	4300	6503	73499423	SO:0001583	missense	9508	exon4			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.634G>T	4.37:g.73280559C>A	ENSP00000286657:p.Asp212Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	73499423	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354974	0.41700	.	.	ENSG00000156140	ENST00000286657	T	0.62639	0.01	5.16	3.43	0.39272	.	0.000000	0.64402	D	0.000007	T	0.59321	0.2185	L	0.53249	1.67	0.36632	D	0.876333	P	0.38767	0.646	B	0.42738	0.396	T	0.62774	-0.6783	10	0.42905	T	0.14	.	10.2721	0.43489	0.0:0.841:0.0:0.159	.	212	O15072	ATS3_HUMAN	Y	212	ENSP00000286657:D212Y	ENSP00000286657:D212Y	D	-	1	0	ADAMTS3	73499423	0.965000	0.33210	0.919000	0.36401	0.825000	0.46686	3.319000	0.51983	0.572000	0.29383	0.655000	0.94253	GAC		0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ANKRD17	26057	broad.mit.edu	37	4	74000875	74000875	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:74000875C>T	ENST00000358602.4	-	16	3309	c.3193G>A	c.(3193-3195)Gcc>Acc	p.A1065T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A814T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A952T|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1065					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A1065T(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAAGCATGGCTGAAGGAGAG	0.423																																					p.A814T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2440A	4						.						207.0	183.0	191.0					4																	74000875		2203	4300	6503	74219739	SO:0001583	missense	26057	exon15			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3193G>A	4.37:g.74000875C>T	ENSP00000351416:p.Ala1065Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74219739	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351252	0.41700	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.67698	-0.28;-0.21;-0.26	5.07	4.22	0.49857	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000016	T	0.53158	0.1779	N	0.08118	0	0.31127	N	0.708172	B;P;P;B;P	0.46220	0.027;0.874;0.793;0.158;0.817	B;P;B;B;B	0.44811	0.027;0.461;0.258;0.045;0.366	T	0.61387	-0.7073	10	0.62326	D	0.03	.	16.5964	0.84797	0.0:0.9297:0.0:0.0703	.	586;1064;814;1065;952	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	T	1065;814;952;1065	ENSP00000351416:A1065T;ENSP00000332265:A814T;ENSP00000427151:A952T	ENSP00000332265:A814T	A	-	1	0	ANKRD17	74219739	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.432000	0.59922	0.550000	0.28991	-0.797000	0.03246	GCC		0.423	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
AFP	174	broad.mit.edu	37	4	74303901	74303901	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:74303901T>G	ENST00000395792.2	+	3	248	c.148T>G	c.(148-150)Ttt>Gtt	p.F50V	AFP_ENST00000226359.2_Missense_Mutation_p.F50V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	50	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.F50V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCTACCATATTTTTTGCCCA	0.373									Alpha-Fetoprotein, Hereditary Persistence of																												p.F50V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T148G	4						.						135.0	134.0	134.0					4																	74303901		2203	4300	6503	74522765	SO:0001583	missense	174	exon3	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.148T>G	4.37:g.74303901T>G	ENSP00000379138:p.Phe50Val	Somatic		Capture	Illumina HiSeq	Phase_I	74522765	NM_001134	B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	T	1.007	-0.688971	0.03328	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.40225	1.04;1.04	5.29	-1.83	0.07833	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.257310	0.05285	N	0.519980	T	0.25306	0.0615	L	0.35288	1.05	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.12553	-1.0543	10	0.14656	T	0.56	0.0152	1.3487	0.02169	0.2865:0.0844:0.296:0.3331	.	50	P02771	FETA_HUMAN	V	50	ENSP00000379138:F50V;ENSP00000226359:F50V	ENSP00000226359:F50V	F	+	1	0	AFP	74522765	0.068000	0.21057	0.016000	0.15963	0.884000	0.51177	-0.026000	0.12392	-0.420000	0.07427	0.533000	0.62120	TTT		0.373	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3		
AFP	174	broad.mit.edu	37	4	74315081	74315081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:74315081C>T	ENST00000395792.2	+	9	1188	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	AFP_ENST00000226359.2_Missense_Mutation_p.P363L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	363	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.P363L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAGACATCCTCAGCTTGCT	0.368									Alpha-Fetoprotein, Hereditary Persistence of																												p.P363L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1088T	4						.						90.0	89.0	89.0					4																	74315081		2203	4300	6503	74533945	SO:0001583	missense	174	exon9	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1088C>T	4.37:g.74315081C>T	ENSP00000379138:p.Pro363Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74533945	NM_001134	B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967385	0.34754	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	D;D	0.83837	-1.77;-1.77	5.87	1.55	0.23275	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.784246	0.12029	N	0.506121	D	0.83083	0.5177	M	0.78049	2.395	0.09310	N	0.999998	P;B	0.35174	0.488;0.379	B;B	0.44315	0.446;0.272	T	0.75935	-0.3142	10	0.87932	D	0	.	1.4029	0.02274	0.2157:0.4569:0.1477:0.1798	.	205;363	B4DMX4;P02771	.;FETA_HUMAN	L	363	ENSP00000379138:P363L;ENSP00000226359:P363L	ENSP00000226359:P363L	P	+	2	0	AFP	74533945	0.000000	0.05858	0.001000	0.08648	0.958000	0.62258	0.153000	0.16323	0.460000	0.27045	0.655000	0.94253	CCT		0.368	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3		
C4orf26	152816	broad.mit.edu	37	4	76489380	76489380	+	Missense_Mutation	SNP	G	G	A	rs148555641		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:76489380G>A	ENST00000311623.4	+	2	159	c.124G>A	c.(124-126)Gac>Aac	p.D42N	C4orf26_ENST00000435974.2_Silent_p.P56P	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	42						extracellular region (GO:0005576)		p.D42N(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGACGCTACCGACTGCCAGAT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.0		0.001	False		,,,				2504	0.0				p.D42N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G124A	4						.	G	,ASN/ASP	0,4406		0,0,2203	93.0	94.0	94.0		168,124	4.1	1.0	4	dbSNP_134	94	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,missense	C4orf26	NM_001206981.1,NM_178497.3	,23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,possibly-damaging	56/177,42/131	76489380	3,13003	2203	4300	6503	76708404	SO:0001583	missense	152816	exon2			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.124G>A	4.37:g.76489380G>A	ENSP00000311307:p.Asp42Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76708404	NM_178497	B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	ENST00000311623.4	37	CCDS3569.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.6	4.545696	0.86022	0.0	3.49E-4	ENSG00000174792	ENST00000311623	T	0.35789	1.29	4.9	4.05	0.47172	.	0.115474	0.39146	N	0.001455	T	0.26268	0.0641	L	0.29908	0.895	0.80722	D	1	P	0.36412	0.552	B	0.36092	0.217	T	0.10177	-1.0641	10	0.87932	D	0	.	9.0967	0.36642	0.0992:0.0:0.9008:0.0	.	42	Q17RF5	CD026_HUMAN	N	42	ENSP00000311307:D42N	ENSP00000311307:D42N	D	+	1	0	C4orf26	76708404	1.000000	0.71417	0.988000	0.46212	0.931000	0.56810	1.896000	0.39789	1.440000	0.47531	0.644000	0.83932	GAC		0.527	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497	
ART3	419	broad.mit.edu	37	4	77003217	77003217	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:77003217G>A	ENST00000355810.4	+	3	429	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.E104K|ART3_ENST00000349321.3_Missense_Mutation_p.E104K	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	104					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E104K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATATATTTCCGAAGCTCAAGA	0.428																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	4						.						72.0	73.0	73.0					4																	77003217		2203	4300	6503	77222241	SO:0001583	missense	419	exon3			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.310G>A	4.37:g.77003217G>A	ENSP00000348064:p.Glu104Lys	Somatic		Capture	Illumina HiSeq	Phase_I	77222241	NM_001179	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900896	0.52227	.	.	ENSG00000156219	ENST00000513353;ENST00000341029;ENST00000513122;ENST00000504914;ENST00000355810;ENST00000349321;ENST00000510423	T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.52	3.76	0.43208	.	0.489617	0.19076	N	0.123364	T	0.18173	0.0436	M	0.67625	2.065	0.26122	N	0.980535	D;P;D;P;D;D;D	0.61080	0.969;0.944;0.989;0.903;0.985;0.982;0.962	P;P;P;P;P;P;B	0.51999	0.456;0.542;0.592;0.489;0.687;0.503;0.422	T	0.03576	-1.1023	10	0.49607	T	0.09	-16.1128	13.2359	0.59969	0.0:0.2189:0.7811:0.0	.	74;104;104;104;104;104;104	D6RBN3;E7ESB3;B4DHX3;E7ER42;Q13508;Q13508-3;Q13508-2	.;.;.;.;NAR3_HUMAN;.;.	K	104	ENSP00000421345:E104K;ENSP00000343843:E104K;ENSP00000422287:E104K;ENSP00000421431:E104K;ENSP00000348064:E104K;ENSP00000304313:E104K;ENSP00000425327:E104K	ENSP00000343843:E104K	E	+	1	0	ART3	77222241	0.545000	0.26449	0.665000	0.29768	0.281000	0.26958	1.847000	0.39299	0.862000	0.35528	0.563000	0.77884	GAA		0.428	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179	
CCDC158	339965	broad.mit.edu	37	4	77305802	77305802	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:77305802T>G	ENST00000388914.3	-	4	457	c.305A>C	c.(304-306)gAg>gCg	p.E102A	CCDC158_ENST00000434846.2_Missense_Mutation_p.E102A	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	102								p.E102A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTTTGTTTCTCATGCAATTC	0.343																																					p.E102A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A305C	4						.						106.0	99.0	101.0					4																	77305802		1824	4081	5905	77524826	SO:0001583	missense	339965	exon4			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.305A>C	4.37:g.77305802T>G	ENSP00000373566:p.Glu102Ala	Somatic		Capture	Illumina HiSeq	Phase_I	77524826	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668906	0.67814	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.44482	0.96;0.92	5.72	5.72	0.89469	.	0.131575	0.34362	N	0.004022	T	0.30885	0.0779	N	0.19112	0.55	0.31453	N	0.670554	P;B	0.37864	0.61;0.286	B;B	0.37015	0.239;0.169	T	0.45056	-0.9287	10	0.66056	D	0.02	.	13.523	0.61578	0.0:0.0:0.0:1.0	.	102;102	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	A	102	ENSP00000373566:E102A;ENSP00000401742:E102A	ENSP00000316815:E102A	E	-	2	0	CCDC158	77524826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.261000	0.65496	2.189000	0.69895	0.533000	0.62120	GAG		0.343	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
SEPT11	55752	broad.mit.edu	37	4	77917670	77917670	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:77917670C>A	ENST00000264893.6	+	2	321	c.120C>A	c.(118-120)ttC>ttA	p.F40L	SEPT11_ENST00000541121.1_Missense_Mutation_p.F50L|SEPT11_ENST00000510515.1_Missense_Mutation_p.F50L|SEPT11_ENST00000502584.1_Missense_Mutation_p.F40L|SEPT11_ENST00000505788.1_Missense_Mutation_p.F40L|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	40	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.F40L(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						CTCAAGGATTCTGTTTCAACA	0.433																																					p.F40L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C120A	4						.						134.0	120.0	125.0					4																	77917670		2203	4300	6503	78136694	SO:0001583	missense	55752	exon2			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.120C>A	4.37:g.77917670C>A	ENSP00000264893:p.Phe40Leu	Somatic		Capture	Illumina HiSeq	Phase_I	78136694	NM_018243	B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689806	0.88735	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000504637;ENST00000512778;ENST00000541121	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	T	0.77103	0.4081	M	0.91818	3.245	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.81947	-0.0700	10	0.87932	D	0	.	19.7148	0.96113	0.0:1.0:0.0:0.0	.	50;40	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	L	40;40;32;40;50;50;50;50	ENSP00000264893:F40L;ENSP00000426344:F40L;ENSP00000420839:F32L;ENSP00000424925:F40L;ENSP00000422896:F50L;ENSP00000425262:F50L;ENSP00000422047:F50L;ENSP00000443701:F50L	ENSP00000264893:F40L	F	+	3	2	SEPT11	78136694	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.824000	0.39072	2.668000	0.90789	0.585000	0.79938	TTC		0.433	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243	
GK2	2712	broad.mit.edu	37	4	80328097	80328097	+	Missense_Mutation	SNP	G	G	A	rs267600273		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:80328097G>A	ENST00000358842.3	-	1	1275	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.R420C(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGCAAATGACGAAGTGGAATT	0.393																																					p.R420C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1258T	4						.						131.0	124.0	127.0					4																	80328097		2203	4300	6503	80547121	SO:0001583	missense	2712	exon1			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1258C>T	4.37:g.80328097G>A	ENSP00000351706:p.Arg420Cys	Somatic		Capture	Illumina HiSeq	Phase_I	80547121	NM_033214	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728975	0.30684	.	.	ENSG00000196475	ENST00000358842	D	0.90444	-2.67	4.09	1.61	0.23674	Carbohydrate kinase, FGGY, C-terminal (1);	0.550372	0.20636	N	0.088495	D	0.89128	0.6627	L	0.43646	1.37	0.26919	N	0.96672	P	0.42735	0.788	P	0.50109	0.631	T	0.82468	-0.0442	10	0.72032	D	0.01	-21.0018	9.549	0.39299	0.0:0.0:0.3595:0.6405	.	420	Q14410	GLPK2_HUMAN	C	420	ENSP00000351706:R420C	ENSP00000351706:R420C	R	-	1	0	GK2	80547121	0.849000	0.29639	0.985000	0.45067	0.420000	0.31355	1.743000	0.38258	0.358000	0.24211	-0.485000	0.04761	CGT		0.393	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
PRDM8	56978	broad.mit.edu	37	4	81122591	81122591	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:81122591G>T	ENST00000504452.1	+	7	1206	c.367G>T	c.(367-369)Gac>Tac	p.D123Y	PRDM8_ENST00000339711.4_Missense_Mutation_p.D123Y|PRDM8_ENST00000415738.2_Missense_Mutation_p.D123Y			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.D123Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GATTGCCAAAGACGAGGAGTT	0.498																																					p.D123Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367T	4						.						72.0	75.0	74.0					4																	81122591		1932	4137	6069	81341615	SO:0001583	missense	56978	exon3			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.367G>T	4.37:g.81122591G>T	ENSP00000423985:p.Asp123Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	81341615	NM_001099403	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100453	0.94245	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.98	5.98	0.97165	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.92515	0.7623	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92275	0.5828	10	0.72032	D	0.01	.	20.0665	0.97706	0.0:0.0:1.0:0.0	.	123	Q9NQV8	PRDM8_HUMAN	Y	123	ENSP00000423985:D123Y;ENSP00000425149:D123Y;ENSP00000339764:D123Y;ENSP00000406998:D123Y	ENSP00000339764:D123Y	D	+	1	0	PRDM8	81341615	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.414000	0.52693	2.847000	0.97988	0.591000	0.81541	GAC		0.498	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		
FGF5	2250	broad.mit.edu	37	4	81188208	81188208	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:81188208G>T	ENST00000312465.7	+	1	456	c.230G>T	c.(229-231)aGc>aTc	p.S77I	FGF5_ENST00000456523.3_Missense_Mutation_p.S77I	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	77					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.S77I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTGGAGCAGAGCAGTTTCCAG	0.607																																					p.S77I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G230T	4						.						53.0	59.0	57.0					4																	81188208		2203	4300	6503	81407232	SO:0001583	missense	2250	exon1			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.230G>T	4.37:g.81188208G>T	ENSP00000311697:p.Ser77Ile	Somatic		Capture	Illumina HiSeq	Phase_I	81407232	NM_033143	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395096	0.62066	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.08984	3.03;3.03	5.41	4.57	0.56435	.	1.620910	0.03212	N	0.176366	T	0.13030	0.0316	L	0.32530	0.975	0.45076	D	0.998099	B;B	0.34103	0.343;0.437	B;B	0.36885	0.235;0.049	T	0.09729	-1.0661	10	0.46703	T	0.11	.	16.001	0.80292	0.0:0.135:0.865:0.0	.	77;77	P12034-2;P12034	.;FGF5_HUMAN	I	77	ENSP00000311697:S77I;ENSP00000398353:S77I	ENSP00000311697:S77I	S	+	2	0	FGF5	81407232	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	3.903000	0.56318	1.507000	0.48752	0.561000	0.74099	AGC		0.607	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
HNRNPD	3184	broad.mit.edu	37	4	83279905	83279905	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:83279905T>G	ENST00000313899.7	-	4	805	c.528A>C	c.(526-528)aaA>aaC	p.K176N	HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K176N|HNRNPD_ENST00000541060.1_Missense_Mutation_p.K22N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K124N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K157N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	176	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.K176N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						GCTCTTTTGTTTTCATGGCTT	0.353																																					p.K176N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A528C	4						.						62.0	65.0	64.0					4																	83279905		2202	4299	6501	83498929	SO:0001583	missense	3184	exon4			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.528A>C	4.37:g.83279905T>G	ENSP00000313199:p.Lys176Asn	Somatic		Capture	Illumina HiSeq	Phase_I	83498929	NM_031370	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.546958|4.546958	0.86022|0.86022	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432|ENST00000514671	D;D;D;D;D;D;D;D|.	0.85629|.	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.35542|0.35542	1.07|1.07	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.61697|.	0.99;0.99;0.989;0.981|.	D;D;D;P|.	0.66979|.	0.948;0.948;0.915;0.824|.	T|T	0.51068|0.51068	-0.8752|-0.8752	10|5	0.87932|.	D|.	0|.	.|.	10.6901|10.6901	0.45867|0.45867	0.0:0.0712:0.0:0.9288|0.0:0.0712:0.0:0.9288	.|.	157;176;157;176|.	Q14103-4;Q14103-3;Q14103-2;Q14103|.	.;.;.;HNRPD_HUMAN|.	N|H	176;176;157;124;151;22;109;176;78|80	ENSP00000313199:K176N;ENSP00000313327:K176N;ENSP00000305860:K157N;ENSP00000439380:K124N;ENSP00000437416:K22N;ENSP00000420926:K109N;ENSP00000421952:K176N;ENSP00000426666:K78N|.	ENSP00000307544:K151N|.	K|N	-|-	3|1	2|0	HNRNPD|HNRNPD	83498929|83498929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.580000|5.580000	0.67464|0.67464	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	AAA|AAC		0.353	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370	
AFF1	4299	broad.mit.edu	37	4	87968733	87968733	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:87968733C>A	ENST00000307808.6	+	3	1445	c.1025C>A	c.(1024-1026)tCt>tAt	p.S342Y	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S349Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	342					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S342Y(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGATGCCTTCTCAGTCAGTT	0.478																																					p.S349Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1046A	4						.						69.0	76.0	73.0					4																	87968733		2202	4298	6500	88187757	SO:0001583	missense	4299	exon4			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1025C>A	4.37:g.87968733C>A	ENSP00000305689:p.Ser342Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	88187757	NM_001166693	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425078	0.43020	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000541943;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	6.08	6.08	0.98989	.	0.687511	0.14855	N	0.294449	T	0.81955	0.4932	M	0.75777	2.31	0.80722	D	1	D;P;P;D;D;D	0.76494	0.999;0.934;0.934;0.999;0.966;0.999	D;P;P;D;P;D	0.73708	0.981;0.73;0.789;0.981;0.787;0.981	T	0.81556	-0.0879	10	0.87932	D	0	-6.4706	15.7062	0.77583	0.0:0.9333:0.0:0.0667	.	349;349;283;342;342;349	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	Y	349;349;3;349;349;342	ENSP00000378578:S349Y;ENSP00000427593:S349Y;ENSP00000424483:S349Y;ENSP00000305689:S342Y	ENSP00000305689:S342Y	S	+	2	0	AFF1	88187757	0.030000	0.19436	0.155000	0.22561	0.181000	0.23173	3.013000	0.49582	2.894000	0.99253	0.655000	0.94253	TCT		0.478	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
DSPP	1834	broad.mit.edu	37	4	88537326	88537326	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:88537326G>A	ENST00000282478.7	+	4	3545	c.3512G>A	c.(3511-3513)aGc>aAc	p.S1171N	DSPP_ENST00000399271.1_Missense_Mutation_p.S1171N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1171	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S1171N(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagcgacagcagcgatagc	0.567																																					p.S1171N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3512A	4						.						44.0	63.0	57.0					4																	88537326		1615	2852	4467	88756350	SO:0001583	missense	1834	exon5			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3512G>A	4.37:g.88537326G>A	ENSP00000282478:p.Ser1171Asn	Somatic		Capture	Illumina HiSeq	Phase_I	88756350	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	0.702	-0.790600	0.02884	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87491	-2.26;-2.26	1.49	1.49	0.22878	.	0.434122	0.16998	U	0.191027	T	0.79919	0.4529	L	0.38175	1.15	0.09310	N	0.999996	D	0.55172	0.97	P	0.45506	0.483	T	0.69691	-0.5077	10	0.37606	T	0.19	-4.4869	6.4694	0.21999	0.0:0.0:1.0:0.0	.	1171	Q9NZW4	DSPP_HUMAN	N	1171	ENSP00000382213:S1171N;ENSP00000282478:S1171N	ENSP00000282478:S1171N	S	+	2	0	DSPP	88756350	0.090000	0.21635	0.756000	0.31282	0.006000	0.05464	1.122000	0.31295	1.167000	0.42706	0.298000	0.19748	AGC		0.567	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
ABCG2	9429	broad.mit.edu	37	4	89061127	89061127	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:89061127T>G	ENST00000237612.3	-	2	566	c.21A>C	c.(19-21)gaA>gaC	p.E7D	ABCG2_ENST00000515655.1_Missense_Mutation_p.E7D	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	7					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E7D(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GGATAAAAACTTCGACATTAC	0.408																																					p.E7D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A21C	4						.						57.0	55.0	56.0					4																	89061127		2203	4300	6503	89280151	SO:0001583	missense	9429	exon2			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.21A>C	4.37:g.89061127T>G	ENSP00000237612:p.Glu7Asp	Somatic		Capture	Illumina HiSeq	Phase_I	89280151	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809104	0.31961	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;T;T	0.86230	-2.09;-1.98;-0.33;-0.29	5.41	-5.63	0.02474	.	0.657679	0.16410	N	0.215609	T	0.65913	0.2737	N	0.08118	0	0.09310	N	1	B;B	0.28470	0.213;0.02	B;B	0.29862	0.108;0.013	T	0.60885	-0.7174	10	0.17832	T	0.49	-0.2165	6.5445	0.22398	0.0:0.3121:0.3838:0.3041	.	7;7	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	D	7;7;45;25	ENSP00000426917:E7D;ENSP00000237612:E7D;ENSP00000426916:E45D;ENSP00000426934:E25D	ENSP00000237612:E7D	E	-	3	2	ABCG2	89280151	0.003000	0.15002	0.000000	0.03702	0.130000	0.20726	-0.481000	0.06552	-1.399000	0.02063	0.528000	0.53228	GAA		0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
CCSER1	401145	broad.mit.edu	37	4	91229834	91229834	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:91229834G>T	ENST00000509176.1	+	2	687	c.399G>T	c.(397-399)gaG>gaT	p.E133D	CCSER1_ENST00000333691.8_Missense_Mutation_p.E133D|CCSER1_ENST00000432775.2_Missense_Mutation_p.E133D	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	133								p.L133F(1)									CTTTGACAGAGGATTTTGAAA	0.363																																					p.E133D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G399T	4						.						53.0	52.0	53.0					4																	91229834		1823	4079	5902	91448857	SO:0001583	missense	401145	exon2				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.399G>T	4.37:g.91229834G>T	ENSP00000425040:p.Glu133Asp	Somatic		Capture	Illumina HiSeq	Phase_I	91448857	NM_001145065	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819576	0.50633	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.55052	1.04;0.54;1.04	5.18	1.32	0.21799	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.36672	1.1	0.28513	N	0.913457	B;B;B	0.33448	0.412;0.233;0.412	B;B;B	0.39068	0.289;0.137;0.289	T	0.25950	-1.0117	10	0.42905	T	0.14	-24.3019	2.7386	0.05247	0.2888:0.1105:0.4875:0.1131	.	133;133;133	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	D	133	ENSP00000425040:E133D;ENSP00000389283:E133D;ENSP00000329482:E133D	ENSP00000329482:E133D	E	+	3	2	FAM190A	91448857	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	1.400000	0.34577	0.077000	0.16863	0.655000	0.94253	GAG		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
GRID2	2895	broad.mit.edu	37	4	94547533	94547533	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:94547533A>G	ENST00000282020.4	+	14	2565	c.2307A>G	c.(2305-2307)ggA>ggG	p.G769G	GRID2_ENST00000510992.1_Silent_p.G674G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	769					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.G769G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTGATCGGGGATATGGAATTG	0.388																																					p.G769G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2307G	4						.						201.0	177.0	185.0					4																	94547533		2203	4300	6503	94766556	SO:0001819	synonymous_variant	2895	exon14			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2307A>G	4.37:g.94547533A>G		Somatic		Capture	Illumina HiSeq	Phase_I	94766556	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																				0.388	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
GRID2	2895	broad.mit.edu	37	4	94690437	94690437	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:94690437C>A	ENST00000282020.4	+	15	2695	c.2437C>A	c.(2437-2439)Ctg>Atg	p.L813M	GRID2_ENST00000510992.1_Missense_Mutation_p.L718M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	813					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.L813M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CCAGTGTGACCTGTACTCGTC	0.502																																					p.L813M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2437A	4						.						124.0	122.0	122.0					4																	94690437		2203	4300	6503	94909460	SO:0001583	missense	2895	exon15			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2437C>A	4.37:g.94690437C>A	ENSP00000282020:p.Leu813Met	Somatic		Capture	Illumina HiSeq	Phase_I	94909460	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173437	0.78452	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.54675	0.56;0.56	5.17	5.17	0.71159	Ionotropic glutamate receptor (1);	0.066271	0.64402	D	0.000008	T	0.58963	0.2159	L	0.56340	1.77	0.58432	D	0.999999	P;P	0.41131	0.739;0.739	P;P	0.49752	0.621;0.621	T	0.58020	-0.7710	10	0.41790	T	0.15	.	14.0338	0.64632	0.0:0.9253:0.0:0.0747	.	718;813	E9PH24;O43424	.;GRID2_HUMAN	M	813;718	ENSP00000282020:L813M;ENSP00000421257:L718M	ENSP00000282020:L813M	L	+	1	2	GRID2	94909460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.742000	0.68646	2.415000	0.81967	0.650000	0.86243	CTG		0.502	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
SMARCAD1	56916	broad.mit.edu	37	4	95199663	95199663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:95199663G>T	ENST00000354268.4	+	17	2246	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.E725*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.E295*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	725					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E725*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGAGTAAAAGAAGAGGTAAT	0.279																																					p.E725X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2173T	4						.						43.0	50.0	48.0					4																	95199663		2182	4286	6468	95418686	SO:0001587	stop_gained	56916	exon17			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2173G>T	4.37:g.95199663G>T	ENSP00000346217:p.Glu725*	Somatic		Capture	Illumina HiSeq	Phase_I	95418686	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	40	8.092666	0.98651	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-15.8868	12.7947	0.57553	0.0749:0.0:0.9251:0.0	.	.	.	.	X	725;725;725;295	.	ENSP00000346217:E725X	E	+	1	0	SMARCAD1	95418686	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.111000	0.71541	2.616000	0.88540	0.650000	0.86243	GAA		0.279	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
PDHA2	5161	broad.mit.edu	37	4	96761557	96761557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:96761557C>T	ENST00000295266.4	+	1	319	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	86					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R86C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GAAATTCATTCGCGGTTTCTG	0.517																																					p.R86C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256T	4						.						115.0	101.0	105.0					4																	96761557		2203	4300	6503	96980580	SO:0001583	missense	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.256C>T	4.37:g.96761557C>T	ENSP00000295266:p.Arg86Cys	Somatic		Capture	Illumina HiSeq	Phase_I	96980580	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128171	0.56721	.	.	ENSG00000163114	ENST00000295266	D	0.97752	-4.52	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	10	0.87932	D	0	-15.3125	6.3783	0.21519	0.1805:0.7274:0.0:0.092	.	86	P29803	ODPAT_HUMAN	C	86	ENSP00000295266:R86C	ENSP00000295266:R86C	R	+	1	0	PDHA2	96980580	0.942000	0.31987	0.156000	0.22583	0.585000	0.36419	1.969000	0.40510	1.456000	0.47831	0.467000	0.42956	CGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
PDHA2	5161	broad.mit.edu	37	4	96762427	96762427	+	Missense_Mutation	SNP	C	C	T	rs17024795	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:96762427C>T	ENST00000295266.4	+	1	1189	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	376			R -> G (in dbSNP:rs17024795).		glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R376C(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTTTGAAGTTCGTGGTGCAAA	0.413																																					p.R376C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1126T	4						.						113.0	102.0	106.0					4																	96762427		2203	4300	6503	96981450	SO:0001583	missense	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1126C>T	4.37:g.96762427C>T	ENSP00000295266:p.Arg376Cys	Somatic		Capture	Illumina HiSeq	Phase_I	96981450	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339268	0.41398	.	.	ENSG00000163114	ENST00000295266	T	0.79454	-1.27	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.85542	2.76	0.09310	P	0.99999999567229	D	0.89917	1.0	D	0.91635	0.999	D	0.91106	0.4918	9	0.87932	D	0	-19.3113	10.8551	0.46794	0.188:0.812:0.0:0.0	.	376	P29803	ODPAT_HUMAN	C	376	ENSP00000295266:R376C	ENSP00000295266:R376C	R	+	1	0	PDHA2	96981450	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.262000	0.51538	2.695000	0.91970	0.563000	0.77884	CGT		0.413	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
TRIML1	339976	broad.mit.edu	37	4	189060944	189060944	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr4:189060944G>A	ENST00000332517.3	+	1	372	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	78					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A78T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGCCAGCATCGCCAGGCAGCT	0.627																																					p.A78T	Melanoma(31;213 1036 16579 23968 32372)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	4						.						48.0	51.0	50.0					4																	189060944		2203	4300	6503	189297938	SO:0001583	missense	339976	exon1			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.232G>A	4.37:g.189060944G>A	ENSP00000327738:p.Ala78Thr	Somatic		Capture	Illumina HiSeq	Phase_I	189297938	NM_178556	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398591	0.25205	.	.	ENSG00000184108	ENST00000332517	D	0.84223	-1.82	5.59	4.75	0.60458	.	0.117788	0.39146	N	0.001458	T	0.74458	0.3719	L	0.27053	0.805	0.09310	N	0.999998	B	0.21147	0.052	B	0.09377	0.004	T	0.63269	-0.6675	10	0.39692	T	0.17	-14.4272	9.2337	0.37453	0.1656:0.0:0.8344:0.0	.	78	Q8N9V2	TRIML_HUMAN	T	78	ENSP00000327738:A78T	ENSP00000327738:A78T	A	+	1	0	TRIML1	189297938	0.001000	0.12720	0.582000	0.28627	0.001000	0.01503	0.988000	0.29616	1.500000	0.48636	0.655000	0.94253	GCC		0.627	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
C5orf38	153571	broad.mit.edu	37	5	2752755	2752756	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:2752755_2752756insG	ENST00000334000.3	+	2	337_338	c.220_221insG	c.(220-222)tggfs	p.W74fs	IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000515640.1_Frame_Shift_Ins_p.W74fs|C5orf38_ENST00000505778.1_Frame_Shift_Ins_p.W74fs|IRX2_ENST00000382611.6_5'Flank|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000397835.4_Frame_Shift_Ins_p.W74fs	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	74						extracellular region (GO:0005576)		p.D76fs*2(1)		endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GTCAAAACACTGGGGGGATGAT	0.52																																					p.W74fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.220_221insG	5						.																																			2805756	SO:0001589	frameshift_variant	153571	exon2			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.226dupG	5.37:g.2752761_2752761dupG	ENSP00000334267:p.Trp74fs	Somatic		Capture	Illumina HiSeq	Phase_I	2805755	NM_178569		Frame_Shift_Ins	INS	ENST00000334000.3	37	CCDS34131.1																																																																																				0.520	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569	
MARCH6	10299	broad.mit.edu	37	5	10402530	10402530	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:10402530G>A	ENST00000274140.5	+	13	1220	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	MARCH6_ENST00000510792.1_Missense_Mutation_p.R61H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R258H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R315H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	363					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R363H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CATAGATCTCGTCGCTTACTG	0.373																																					p.R363H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088A	5						.						234.0	223.0	227.0					5																	10402530		2203	4300	6503	10455530	SO:0001583	missense	10299	exon13			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1088G>A	5.37:g.10402530G>A	ENSP00000274140:p.Arg363His	Somatic		Capture	Illumina HiSeq	Phase_I	10455530	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257089	0.59321	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.51071	1.74;0.73;1.74;0.72	5.85	4.98	0.66077	.	0.052606	0.85682	D	0.000000	T	0.54464	0.1860	L	0.52573	1.65	0.80722	D	1	P;D;D	0.76494	0.838;0.999;0.996	B;P;P	0.56700	0.199;0.804;0.731	T	0.50355	-0.8838	10	0.25751	T	0.34	-14.7744	13.2371	0.59974	0.0731:0.0:0.9269:0.0	.	258;315;363	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	H	315;258;363;61	ENSP00000414643:R315H;ENSP00000425930:R258H;ENSP00000274140:R363H;ENSP00000424512:R61H	ENSP00000274140:R363H	R	+	2	0	MARCH6	10455530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.025000	0.76449	1.490000	0.48466	0.655000	0.94253	CGT		0.373	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
SLCO4C1	353189	broad.mit.edu	37	5	101597645	101597645	+	Missense_Mutation	SNP	G	G	A	rs138441262		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:101597645G>A	ENST00000310954.6	-	5	1278	c.992C>T	c.(991-993)cCt>cTt	p.P331L		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.P331L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAGAAAAAGGTATTATTAA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		15238	0.0		0.001	False		,,,				2504	0.0				p.P331L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C992T	5						.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	93.0	94.0	93.0		992	5.9	1.0	5	dbSNP_134	93	2,8598	1.2+/-3.3	0,2,4298	no	missense	SLCO4C1	NM_180991.4	98	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	331/725	101597645	3,13003	2203	4300	6503	101625544	SO:0001583	missense	353189	exon5			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.992C>T	5.37:g.101597645G>A	ENSP00000309741:p.Pro331Leu	Somatic		Capture	Illumina HiSeq	Phase_I	101625544	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.4	4.831930	0.91036	2.27E-4	2.33E-4	ENSG00000173930	ENST00000310954	T	0.44881	0.91	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	T	0.63010	0.2475	M	0.82323	2.585	0.58432	D	0.999999	P	0.50272	0.933	P	0.58391	0.838	T	0.58831	-0.7567	10	0.08599	T	0.76	.	20.2885	0.98538	0.0:0.0:1.0:0.0	.	331	Q6ZQN7	SO4C1_HUMAN	L	331	ENSP00000309741:P331L	ENSP00000309741:P331L	P	-	2	0	SLCO4C1	101625544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.871000	0.75531	2.791000	0.96007	0.650000	0.86243	CCT		0.368	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
WDR36	134430	broad.mit.edu	37	5	110439530	110439530	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:110439530G>T	ENST00000513710.2	+	7	815	c.811G>T	c.(811-813)Gtt>Ttt	p.V271F	WDR36_ENST00000506538.2_Missense_Mutation_p.V271F|WDR36_ENST00000505303.1_Missense_Mutation_p.V215F			Q8NI36	WDR36_HUMAN	WD repeat domain 36	271					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V271F(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCAGGTCAAGTTATCATTCA	0.313																																					p.V271F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811T	5						.						65.0	67.0	67.0					5																	110439530		2202	4298	6500	110467429	SO:0001583	missense	134430	exon7			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.811G>T	5.37:g.110439530G>T	ENSP00000424628:p.Val271Phe	Somatic		Capture	Illumina HiSeq	Phase_I	110467429	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744411	0.49151	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303;ENST00000504122	T;T;T;T	0.46451	1.19;1.19;2.91;0.87	5.21	1.94	0.25998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048316	0.85682	D	0.000000	T	0.27594	0.0678	L	0.43923	1.385	0.49389	D	0.999784	P	0.40398	0.716	B	0.33620	0.167	T	0.07233	-1.0783	10	0.87932	D	0	-16.0404	5.5034	0.16840	0.5431:0.0:0.4569:0.0	.	271	Q8NI36	WDR36_HUMAN	F	271;271;215;142	ENSP00000423067:V271F;ENSP00000424628:V271F;ENSP00000422158:V215F;ENSP00000426509:V142F	ENSP00000426509:V142F	V	+	1	0	WDR36	110467429	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	2.628000	0.46477	0.700000	0.31782	0.313000	0.20887	GTT		0.313	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
CTNND2	1501	broad.mit.edu	37	5	11023080	11023080	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:11023080T>C	ENST00000304623.8	-	17	2989	c.2800A>G	c.(2800-2802)Atg>Gtg	p.M934V	CTNND2_ENST00000359640.2_Missense_Mutation_p.M876V|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597V|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.M501V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	934					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M934V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGTCTCGCATGGCGTATTTG	0.502																																					p.M934V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2800G	5						.						137.0	110.0	119.0					5																	11023080		2203	4300	6503	11076080	SO:0001583	missense	1501	exon17			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2800A>G	5.37:g.11023080T>C	ENSP00000307134:p.Met934Val	Somatic		Capture	Illumina HiSeq	Phase_I	11076080	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076717	0.76415	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	L	0.45470	1.425	0.80722	D	1	P;P;P	0.48764	0.915;0.915;0.551	P;P;P	0.55303	0.773;0.773;0.448	T	0.53365	-0.8449	10	0.59425	D	0.04	-23.2269	16.1699	0.81801	0.0:0.0:0.0:1.0	.	597;526;934	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	934;876;843;29;501;597	ENSP00000307134:M934V;ENSP00000352661:M876V;ENSP00000426510:M843V;ENSP00000391155:M501V;ENSP00000426887:M597V	ENSP00000307134:M934V	M	-	1	0	CTNND2	11076080	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.975000	0.88055	2.217000	0.71921	0.533000	0.62120	ATG		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
WDR36	134430	broad.mit.edu	37	5	110461309	110461309	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:110461309A>G	ENST00000513710.2	+	22	2526	c.2522A>G	c.(2521-2523)gAc>gGc	p.D841G	WDR36_ENST00000506538.2_Missense_Mutation_p.D841G			Q8NI36	WDR36_HUMAN	WD repeat domain 36	841					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D841G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATGCAGATGACACTGCTCTC	0.353																																					p.D841G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2522G	5						.						66.0	62.0	63.0					5																	110461309		2202	4300	6502	110489208	SO:0001583	missense	134430	exon22			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2522A>G	5.37:g.110461309A>G	ENSP00000424628:p.Asp841Gly	Somatic		Capture	Illumina HiSeq	Phase_I	110489208	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	9.264	1.044006	0.19748	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.76839	-1.05;-1.05	5.63	5.63	0.86233	Small-subunit processome, Utp21 (1);	0.388706	0.33438	N	0.004908	T	0.67878	0.2940	L	0.41824	1.3	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66240	-0.5973	10	0.87932	D	0	-13.5161	7.5093	0.27564	0.7848:0.1432:0.072:0.0	.	841	Q8NI36	WDR36_HUMAN	G	841	ENSP00000423067:D841G;ENSP00000424628:D841G	ENSP00000423067:D841G	D	+	2	0	WDR36	110489208	0.766000	0.28496	0.922000	0.36590	0.431000	0.31685	1.560000	0.36331	2.145000	0.66743	0.528000	0.53228	GAC		0.353	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
EPB41L4A	64097	broad.mit.edu	37	5	111576501	111576501	+	Missense_Mutation	SNP	C	C	T	rs200997940		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:111576501C>T	ENST00000261486.5	-	10	1078	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.E268K(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATGAGGTTTCGTTACACTAA	0.363																																					p.E268K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	5						.	C	LYS/GLU	0,3624		0,0,1812	58.0	56.0	57.0		802	5.5	1.0	5		57	1,8185		0,1,4092	yes	missense	EPB41L4A	NM_022140.3	56	0,1,5904	TT,TC,CC		0.0122,0.0,0.0085	probably-damaging	268/687	111576501	1,11809	1812	4093	5905	111604400	SO:0001583	missense	64097	exon10			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.802G>A	5.37:g.111576501C>T	ENSP00000261486:p.Glu268Lys	Somatic		Capture	Illumina HiSeq	Phase_I	111604400	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030742	0.93575	0.0	1.22E-4	ENSG00000129595	ENST00000261486	D	0.82711	-1.64	5.49	5.49	0.81192	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90732	0.4643	10	0.72032	D	0.01	.	18.1507	0.89674	0.0:1.0:0.0:0.0	.	268	Q9HCS5	E41LA_HUMAN	K	268	ENSP00000261486:E268K	ENSP00000261486:E268K	E	-	1	0	EPB41L4A	111604400	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.787000	0.69013	2.571000	0.86741	0.655000	0.94253	GAA		0.363	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
APC	324	broad.mit.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1114*(30)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R1096X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,colon,Substitution - Nonsense,0 	.	31	Substitution - Nonsense(30)|Unknown(1)	large_intestine(29)|ovary(1)|skin(1)	c.C3286T	5	GRCh37	CM920048	APC	M	rs121913331	.						90.0	82.0	85.0					5																	112174631		2202	4300	6502	112202530	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*	Somatic		Capture	Illumina HiSeq	Phase_I	112202530	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175216	112175216	+	Nonsense_Mutation	SNP	G	G	T	rs121913224		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:112175216G>T	ENST00000457016.1	+	16	4305	c.3925G>T	c.(3925-3927)Gaa>Taa	p.E1309*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1309*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1309*			P25054	APC_HUMAN	adenomatous polyposis coli	1309	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.			E -> G (in Ref. 1; AAA60353/AAA60354). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1309fs*4(42)|p.E1309*(25)|p.I1311fs*4(2)|p.?(1)|p.E1309fs*6(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.E1309K(1)|p.K1308fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAATAAAAGAAAAGATTGG	0.423		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.E1291X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,upper_aerodigestive_tract,sinonasal_and_nasal_cavity,Substitution - Missense,0 	.	75	Deletion - Frameshift(45)|Substitution - Nonsense(25)|Insertion - Frameshift(3)|Unknown(1)|Substitution - Missense(1)	large_intestine(71)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|skin(1)	c.G3871T	5	GRCh37	CD084022|CD941590|CM920052	APC	D|M		.						54.0	55.0	55.0					5																	112175216		2202	4300	6502	112203115	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3925G>T	5.37:g.112175216G>T	ENSP00000413133:p.Glu1309*	Somatic		Capture	Illumina HiSeq	Phase_I	112203115	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	37	6.023820	0.97211	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.73	5.73	0.89815	.	0.365794	0.32503	N	0.006002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1954	19.8705	0.96849	0.0:0.0:1.0:0.0	.	.	.	.	X	1309	.	.	E	+	1	0	APC	112203115	1.000000	0.71417	0.971000	0.41717	0.520000	0.34377	7.454000	0.80714	2.861000	0.98227	0.655000	0.94253	GAA		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112177377	112177377	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:112177377C>A	ENST00000457016.1	+	16	6466	c.6086C>A	c.(6085-6087)tCt>tAt	p.S2029Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S2029Y|APC_ENST00000508376.2_Missense_Mutation_p.S2029Y			P25054	APC_HUMAN	adenomatous polyposis coli	2029	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S2029Y(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTCTCAGTTCTCTTAGTATT	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S2011Y	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C6032A	5						.						91.0	91.0	91.0					5																	112177377		2202	4300	6502	112205276	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6086C>A	5.37:g.112177377C>A	ENSP00000413133:p.Ser2029Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112205276	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526248	0.64860	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.87729	-2.29;-2.29;-2.29	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93054	0.7789	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91667	0.5347	9	.	.	.	-13.9528	20.1986	0.98248	0.0:1.0:0.0:0.0	.	2031;2029	Q4LE70;P25054	.;APC_HUMAN	Y	2029	ENSP00000413133:S2029Y;ENSP00000257430:S2029Y;ENSP00000427089:S2029Y	.	S	+	2	0	APC	112205276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.781000	0.95711	0.650000	0.86243	TCT		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SRP19	6728	broad.mit.edu	37	5	112203159	112203159	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:112203159A>C	ENST00000505459.1	+	5	515	c.360A>C	c.(358-360)caA>caC	p.Q120H	SRP19_ENST00000515463.1_3'UTR|CTC-487M23.8_ENST00000506997.1_Intron|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000282999.3_3'UTR|CTC-487M23.8_ENST00000512790.1_Intron	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	120					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)	p.Q120H(1)		breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CAAGGACACAAAAAACAGGAG	0.373																																					p.Q120H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A360C	5						.						91.0	84.0	87.0					5																	112203159		2202	4300	6502	112231058	SO:0001583	missense	6728	exon5				CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.360A>C	5.37:g.112203159A>C	ENSP00000424870:p.Gln120His	Somatic		Capture	Illumina HiSeq	Phase_I	112231058	NM_003135	B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258994	0.39896	.	.	ENSG00000153037	ENST00000505459	T	0.45668	0.89	5.56	-3.91	0.04168	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.60455	1.87	0.80722	D	1	B	0.30584	0.286	B	0.20577	0.03	T	0.08638	-1.0712	10	0.45353	T	0.12	-1.3969	14.4083	0.67099	0.3887:0.0:0.6113:0.0	.	120	P09132	SRP19_HUMAN	H	120	ENSP00000424870:Q120H	ENSP00000424870:Q120H	Q	+	3	2	SRP19	112231058	0.970000	0.33590	0.922000	0.36590	0.986000	0.74619	0.029000	0.13666	-0.745000	0.04772	0.460000	0.39030	CAA		0.373	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135	
MCC	4163	broad.mit.edu	37	5	112439930	112439930	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:112439930G>T	ENST00000302475.4	-	5	1143	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	MCC_ENST00000515367.2_Missense_Mutation_p.Q131K|MCC_ENST00000408903.3_Missense_Mutation_p.Q384K|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	194					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q194K(1)|p.Q384K(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTGGTGAGCTGCTCAATGTGC	0.562																																					p.Q384K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1150A	5						.						128.0	112.0	117.0					5																	112439930		2202	4300	6502	112467829	SO:0001583	missense	4163	exon7				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.580C>A	5.37:g.112439930G>T	ENSP00000305617:p.Gln194Lys	Somatic		Capture	Illumina HiSeq	Phase_I	112467829	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103328	0.56183	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.76316	-1.01;2.58;1.41	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	N	0.08118	0	0.80722	D	1	P;P;P;P	0.43578	0.713;0.458;0.811;0.713	P;P;P;P	0.60789	0.678;0.678;0.879;0.678	T	0.67118	-0.5751	10	0.02654	T	1	-31.5283	19.1616	0.93535	0.0:0.0:1.0:0.0	.	194;156;384;194	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	194;131;384	ENSP00000305617:Q194K;ENSP00000421615:Q131K;ENSP00000386227:Q384K	ENSP00000305617:Q194K	Q	-	1	0	MCC	112467829	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.773000	0.85462	2.527000	0.85204	0.563000	0.77884	CAG		0.562	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
CTNND2	1501	broad.mit.edu	37	5	11346720	11346720	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:11346720G>A	ENST00000304623.8	-	9	1581	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	CTNND2_ENST00000359640.2_Silent_p.V464V|CTNND2_ENST00000503622.1_Silent_p.V127V|CTNND2_ENST00000511377.1_Silent_p.V373V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.V31V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	464					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V464V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGACGGAGTCGACACCAGGGG	0.617																																					p.V464V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1392T	5						.						27.0	32.0	30.0					5																	11346720		2203	4300	6503	11399720	SO:0001819	synonymous_variant	1501	exon9			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1392C>T	5.37:g.11346720G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11399720	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.617	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
YTHDC2	64848	broad.mit.edu	37	5	112889319	112889319	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:112889319G>A	ENST00000161863.4	+	14	2113	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E634K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	634	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.E634K(2)		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)		TGGATATGACGAAATTGTTGG	0.363																																					p.E634K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1900A	5						.						135.0	132.0	133.0					5																	112889319		2202	4300	6502	112917218	SO:0001583	missense	64848	exon14			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.1900G>A	5.37:g.112889319G>A	ENSP00000161863:p.Glu634Lys	Somatic		Capture	Illumina HiSeq	Phase_I	112917218	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346700	0.82022	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.72167	0.76;-0.63	5.56	5.56	0.83823	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.88842	2.985	0.47778	D	0.999518	P	0.52692	0.955	B	0.42653	0.394	D	0.83722	0.0193	10	0.59425	D	0.04	.	19.5081	0.95127	0.0:0.0:1.0:0.0	.	634	Q9H6S0	YTDC2_HUMAN	K	634;634;544	ENSP00000161863:E634K;ENSP00000423101:E634K	ENSP00000161863:E634K	E	+	1	0	YTHDC2	112917218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.133000	0.77259	2.597000	0.87782	0.650000	0.86243	GAA		0.363	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
TRIM36	55521	broad.mit.edu	37	5	114499229	114499229	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:114499229C>T	ENST00000282369.3	-	2	405	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	TRIM36_ENST00000513154.1_Missense_Mutation_p.R83Q|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	95					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R95Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTGTTAATTCGGTCAATTTT	0.433																																					p.R95Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	5						.						98.0	92.0	94.0					5																	114499229		2202	4300	6502	114527128	SO:0001583	missense	55521	exon2			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.284G>A	5.37:g.114499229C>T	ENSP00000282369:p.Arg95Gln	Somatic		Capture	Illumina HiSeq	Phase_I	114527128	NM_018700	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615196	0.66672	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;T	0.87729	-2.29;-2.29;0.85	5.31	4.44	0.53790	Zinc finger, RING-type (1);	0.045845	0.85682	D	0.000000	D	0.88962	0.6580	M	0.74647	2.275	0.80722	D	1	P;P	0.48407	0.563;0.91	B;P	0.49085	0.127;0.6	D	0.87399	0.2368	10	0.32370	T	0.25	.	13.6112	0.62080	0.0:0.925:0.0:0.075	.	83;95	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	95;83;83	ENSP00000282369:R95Q;ENSP00000423934:R83Q;ENSP00000424743:R83Q	ENSP00000282369:R95Q	R	-	2	0	TRIM36	114527128	1.000000	0.71417	0.866000	0.34008	0.880000	0.50808	4.368000	0.59505	1.222000	0.43521	0.655000	0.94253	CGA		0.433	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
CCDC112	153733	broad.mit.edu	37	5	114607066	114607066	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:114607066C>T	ENST00000512261.1	-	8	1343	c.927G>A	c.(925-927)caG>caA	p.Q309Q	CCDC112_ENST00000379611.5_Silent_p.Q392Q|CCDC112_ENST00000506442.1_Silent_p.Q309Q|CCDC112_ENST00000395557.4_Silent_p.Q309Q			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	309								p.Q392Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TAAACTGGCGCTGGCGTTCTT	0.358																																					p.Q392Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1176A	5						.						137.0	145.0	143.0					5																	114607066		2202	4300	6502	114634965	SO:0001819	synonymous_variant	153733	exon7			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.927G>A	5.37:g.114607066C>T		Somatic		Capture	Illumina HiSeq	Phase_I	114634965	NM_001040440	Q6A334	Silent	SNP	ENST00000512261.1	37	CCDS4117.1																																																																																				0.358	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
DMXL1	1657	broad.mit.edu	37	5	118502400	118502400	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:118502400C>A	ENST00000311085.8	+	22	5140	c.5060C>A	c.(5059-5061)tCt>tAt	p.S1687Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1687Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1687								p.S1687Y(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGCTTTTTCTTTGCTAGGC	0.358																																					p.S1687Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5060A	5						.						98.0	100.0	99.0					5																	118502400		2202	4300	6502	118530299	SO:0001583	missense	1657	exon22			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5060C>A	5.37:g.118502400C>A	ENSP00000309690:p.Ser1687Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	118530299	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829765	0.91036	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.43688	0.94;0.94	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.986;0.987	T	0.70204	-0.4936	10	0.87932	D	0	-18.2577	20.1379	0.98040	0.0:1.0:0.0:0.0	.	1687;1687	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1687	ENSP00000309690:S1687Y;ENSP00000439479:S1687Y	ENSP00000309690:S1687Y	S	+	2	0	DMXL1	118530299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.779000	0.95612	0.655000	0.94253	TCT		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
HSD17B4	3295	broad.mit.edu	37	5	118865604	118865604	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:118865604G>T	ENST00000256216.6	+	21	1916	c.1783G>T	c.(1783-1785)Gac>Tac	p.D595Y	HSD17B4_ENST00000509514.1_Missense_Mutation_p.D333Y|HSD17B4_ENST00000414835.2_Missense_Mutation_p.D455Y|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.D571Y|HSD17B4_ENST00000513628.1_Missense_Mutation_p.D458Y|HSD17B4_ENST00000504811.1_Missense_Mutation_p.D620Y|HSD17B4_ENST00000515320.1_Missense_Mutation_p.D577Y	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	595	Enoyl-CoA hydratase 2.|MaoC-like.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.D595Y(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AGAAACTGGAGACATTGTCAT	0.348																																					p.D595Y	Colon(35;490 801 34689 41394 43344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1783T	5						.						89.0	86.0	87.0					5																	118865604		2202	4300	6502	118893503	SO:0001583	missense	3295	exon21				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1783G>T	5.37:g.118865604G>T	ENSP00000256216:p.Asp595Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	118893503	NM_000414	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215860	0.58452	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.82	2.92	0.33932	MaoC-like dehydratase (1);	0.463597	0.26669	N	0.023104	D	0.84129	0.5404	L	0.61036	1.89	0.24192	N	0.995548	D;D;D;D;D	0.71674	0.998;0.974;0.974;0.995;0.986	P;P;P;P;P	0.61722	0.785;0.774;0.774;0.893;0.774	T	0.74559	-0.3625	10	0.62326	D	0.03	-0.7747	8.1882	0.31352	0.339:0.0:0.661:0.0	.	620;577;571;333;595	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	Y	595;577;571;620;455;458;333	ENSP00000256216:D595Y;ENSP00000424613:D577Y;ENSP00000424940:D571Y;ENSP00000420914:D620Y;ENSP00000411960:D455Y;ENSP00000425993:D458Y;ENSP00000426272:D333Y	ENSP00000256216:D595Y	D	+	1	0	HSD17B4	118893503	1.000000	0.71417	0.226000	0.23910	0.983000	0.72400	3.001000	0.49488	0.704000	0.31869	0.591000	0.81541	GAC		0.348	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	
FAM170A	340069	broad.mit.edu	37	5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:118969736G>A	ENST00000515256.1	+	3	465	c.293G>A	c.(292-294)cGc>cAc	p.R98H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483																																					p.R98H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293A	5						.						101.0	106.0	105.0					5																	118969736		1935	4141	6076	118997635	SO:0001583	missense	340069	exon3			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.293G>A	5.37:g.118969736G>A	ENSP00000422684:p.Arg98His	Somatic		Capture	Illumina HiSeq	Phase_I	118997635	NM_182761	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	G	8.758	0.922949	0.18056	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.29917	1.55;1.55	4.35	-2.1	0.07210	.	2.326850	0.01275	N	0.009541	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;D;D	0.57571	0.0;0.963;0.98	B;B;P	0.44597	0.001;0.36;0.454	T	0.03818	-1.1001	9	.	.	.	0.2677	1.5766	0.02626	0.236:0.4185:0.1677:0.1778	.	51;98;98	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	H	51;98;98	ENSP00000422684:R98H;ENSP00000423697:R98H	.	R	+	2	0	FAM170A	118997635	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.938000	0.01546	-0.453000	0.07076	-0.826000	0.03091	CGC		0.483	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
FBN2	2201	broad.mit.edu	37	5	127654614	127654614	+	Silent	SNP	G	G	A	rs144018137		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:127654614G>A	ENST00000508053.1	-	41	5525	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	FBN2_ENST00000262464.4_Silent_p.C1517C			P35556	FBN2_HUMAN	fibrillin 2	1517	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1517C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACCATCATCGCAGATGCAAT	0.373																																					p.C1517C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4551T	5						.	G		0,4406		0,0,2203	113.0	106.0	108.0		4551	-5.1	1.0	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN2	NM_001999.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1517/2913	127654614	1,13005	2203	4300	6503	127682513	SO:0001819	synonymous_variant	2201	exon35			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4551C>T	5.37:g.127654614G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127682513	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127866377	127866377	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:127866377C>A	ENST00000508053.1	-	9	1321	c.347G>T	c.(346-348)aGa>aTa	p.R116I	FBN2_ENST00000508989.1_Intron|FBN2_ENST00000262464.4_Missense_Mutation_p.R116I			P35556	FBN2_HUMAN	fibrillin 2	116	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R116I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAACTATTTCTACAAATCGC	0.323																																					p.R116I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347T	5						.						98.0	89.0	92.0					5																	127866377		2203	4300	6503	127894276	SO:0001583	missense	2201	exon3			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.347G>T	5.37:g.127866377C>A	ENSP00000424571:p.Arg116Ile	Somatic		Capture	Illumina HiSeq	Phase_I	127894276	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043006	0.75732	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000502468	D;D;T	0.84873	-1.91;-1.91;1.82	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	D	0.91955	0.7452	M	0.73598	2.24	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.80764	0.994;0.986	D	0.92015	0.5621	10	0.56958	D	0.05	.	18.3138	0.90210	0.0:1.0:0.0:0.0	.	116;116	E9PHW4;P35556	.;FBN2_HUMAN	I	116	ENSP00000262464:R116I;ENSP00000424571:R116I;ENSP00000424753:R116I	ENSP00000262464:R116I	R	-	2	0	FBN2	127894276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.545000	0.67237	2.836000	0.97738	0.655000	0.94253	AGA		0.323	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
CHSY3	337876	broad.mit.edu	37	5	129520692	129520692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:129520692G>T	ENST00000305031.4	+	3	2215	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	619					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.K619N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACAATGAAAAGAAAGTACACA	0.348																																					p.K619N												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1857T	5						.						62.0	63.0	63.0					5																	129520692		2203	4300	6503	129548591	SO:0001583	missense	337876	exon3			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1857G>T	5.37:g.129520692G>T	ENSP00000302629:p.Lys619Asn	Somatic		Capture	Illumina HiSeq	Phase_I	129548591	NM_175856	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255826	0.39896	.	.	ENSG00000198108	ENST00000305031	T	0.34859	1.34	4.12	3.25	0.37280	.	0.000000	0.64402	D	0.000020	T	0.43077	0.1231	M	0.61703	1.905	0.45837	D	0.998702	P	0.47191	0.891	P	0.48738	0.588	T	0.38866	-0.9641	9	.	.	.	-7.9195	12.7885	0.57520	0.0811:0.0:0.9189:0.0	.	619	Q70JA7	CHSS3_HUMAN	N	619	ENSP00000302629:K619N	.	K	+	3	2	CHSY3	129548591	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.099000	0.41767	1.309000	0.44985	0.650000	0.86243	AAG		0.348	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
TERT	7015	broad.mit.edu	37	5	1254511	1254511	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:1254511G>A	ENST00000310581.5	-	15	3324	c.3267C>T	c.(3265-3267)taC>taT	p.Y1089Y	TERT_ENST00000334602.6_Silent_p.Y1026Y|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1089	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.Y1089Y(1)|p.Y1077Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGAGTGGCACGTAGGTGACAC	0.682									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																												p.Y1089Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3267T	5						.						53.0	63.0	59.0					5																	1254511		2112	4246	6358	1307511	SO:0001819	synonymous_variant	7015	exon15	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3267C>T	5.37:g.1254511G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1307511	NM_198253	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	CCDS3861.2																																																																																				0.682	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
CHSY3	337876	broad.mit.edu	37	5	129520930	129520930	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:129520930C>T	ENST00000305031.4	+	3	2453	c.2095C>T	c.(2095-2097)Ctt>Ttt	p.L699F		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	699					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L699F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTCCAGAGGTCTTGGTCTTGA	0.433																																					p.L699F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2095T	5						.						88.0	82.0	84.0					5																	129520930		2203	4300	6503	129548829	SO:0001583	missense	337876	exon3			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2095C>T	5.37:g.129520930C>T	ENSP00000302629:p.Leu699Phe	Somatic		Capture	Illumina HiSeq	Phase_I	129548829	NM_175856	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151161	0.57151	.	.	ENSG00000198108	ENST00000305031	T	0.34859	1.34	4.33	4.33	0.51752	.	0.000000	0.44688	D	0.000433	T	0.52629	0.1746	M	0.66939	2.045	0.58432	D	0.999991	D	0.76494	0.999	D	0.72982	0.979	T	0.49707	-0.8911	9	.	.	.	-4.8226	8.8037	0.34925	0.0:0.8658:0.0:0.1342	.	699	Q70JA7	CHSS3_HUMAN	F	699	ENSP00000302629:L699F	.	L	+	1	0	CHSY3	129548829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.994000	0.49433	2.686000	0.91538	0.650000	0.86243	CTT		0.433	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
RAD50	10111	broad.mit.edu	37	5	131915187	131915187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:131915187G>A	ENST00000265335.6	+	4	931	c.544G>A	c.(544-546)Gca>Aca	p.A182T	RAD50_ENST00000378823.3_Missense_Mutation_p.A43T			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	182					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.A182T(1)|p.A43T(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTTTTTCAGCAACAAGGTT	0.313								Homologous recombination																													p.A182T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G544A	5						.						86.0	93.0	91.0					5																	131915187		2203	4300	6503	131943086	SO:0001583	missense	10111	exon4			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.544G>A	5.37:g.131915187G>A	ENSP00000265335:p.Ala182Thr	Somatic		Capture	Illumina HiSeq	Phase_I	131943086	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217286	0.95104	.	.	ENSG00000113522	ENST00000416135;ENST00000378823;ENST00000265335;ENST00000453394	T;T;T;T	0.25085	1.82;3.07;3.38;3.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.11542	-1.0583	10	0.33940	T	0.23	-16.0077	18.483	0.90819	0.0:0.0:1.0:0.0	.	182	Q92878	RAD50_HUMAN	T	83;43;182;182	ENSP00000389515:A83T;ENSP00000368100:A43T;ENSP00000265335:A182T;ENSP00000400049:A182T	ENSP00000265335:A182T	A	+	1	0	RAD50	131943086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.615000	0.88500	0.655000	0.94253	GCA		0.313	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
GDF9	2661	broad.mit.edu	37	5	132197470	132197470	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:132197470A>G	ENST00000378673.2	-	3	2042	c.1176T>C	c.(1174-1176)caT>caC	p.H392H	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Silent_p.H392H			O60383	GDF9_HUMAN	growth differentiation factor 9	392					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.H392H(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCATACCGATGTCCAACTG	0.512																																					p.H392H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1176C	5						.						136.0	103.0	114.0					5																	132197470		2203	4300	6503	132225369	SO:0001819	synonymous_variant	2661	exon2				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1176T>C	5.37:g.132197470A>G		Somatic		Capture	Illumina HiSeq	Phase_I	132225369	NM_005260	Q4VAW5	Silent	SNP	ENST00000378673.2	37	CCDS4162.1																																																																																				0.512	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260	
VDAC1	7416	broad.mit.edu	37	5	133311606	133311606	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:133311606C>T	ENST00000265333.3	-	7	902	c.658G>A	c.(658-660)Gga>Aga	p.G220R	VDAC1_ENST00000395044.3_Missense_Mutation_p.G220R|VDAC1_ENST00000395047.2_Missense_Mutation_p.G220R	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	220					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)	p.G220R(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GCTGCTATTCCGAAGCGCGTG	0.522																																					p.G220R	NSCLC(127;1776 1806 35523 41489 48154)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G658A	5						.						163.0	157.0	159.0					5																	133311606		2203	4298	6501	133339505	SO:0001583	missense	7416	exon7				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.658G>A	5.37:g.133311606C>T	ENSP00000265333:p.Gly220Arg	Somatic		Capture	Illumina HiSeq	Phase_I	133339505	NM_003374	B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442027	0.96187	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.43294	0.95;0.95;0.95	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77259	-0.2654	10	0.87932	D	0	.	19.5098	0.95137	0.0:1.0:0.0:0.0	.	220	P21796	VDAC1_HUMAN	R	220	ENSP00000265333:G220R;ENSP00000378484:G220R;ENSP00000378487:G220R	ENSP00000265333:G220R	G	-	1	0	VDAC1	133339505	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	6.014000	0.70784	2.692000	0.91855	0.579000	0.79373	GGA		0.522	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1		
UBE2B	7320	broad.mit.edu	37	5	133716430	133716430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:133716430G>T	ENST00000265339.2	+	4	589	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	UBE2B_ENST00000511807.1_Intron	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	58					canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.E58*(1)		kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTAGTAATAGAATTTTCTGA	0.299								Rad6 pathway																													p.E58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T	5						.						46.0	49.0	48.0					5																	133716430		2199	4296	6495	133744329	SO:0001587	stop_gained	7320	exon4			M74525	CCDS4174.1	5q31.1	2011-05-19	2011-05-19		ENSG00000119048	ENSG00000119048		"""Ubiquitin-conjugating enzymes E2"""	12473	protein-coding gene	gene with protein product		179095	"""ubiquitin-conjugating enzyme E2B (RAD6 homolog)"""			1559696	Standard	NM_003337		Approved	UBC2, HHR6B, RAD6B	uc003kzh.3	P63146	OTTHUMG00000129120	ENST00000265339.2:c.172G>T	5.37:g.133716430G>T	ENSP00000265339:p.Glu58*	Somatic		Capture	Illumina HiSeq	Phase_I	133744329	NM_003337	B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6	Nonsense_Mutation	SNP	ENST00000265339.2	37	CCDS4174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.086240|8.086240	0.98646|0.98646	.|.	.|.	ENSG00000119048|ENSG00000119048	ENST00000265339;ENST00000506787|ENST00000507277	.|.	.|.	.|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73048	.|0.3537	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74668	.|-0.3588	.|3	0.30078|.	T|.	0.28|.	-15.9772|-15.9772	16.4986|16.4986	0.84252|0.84252	0.0:0.0:0.868:0.132|0.0:0.0:0.868:0.132	.|.	.|.	.|.	.|.	X|I	58;57|55	.|.	ENSP00000265339:E58X|.	E|R	+|+	1|2	0|0	UBE2B|UBE2B	133744329|133744329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	1.575000|1.575000	0.49775|0.49775	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.299	UBE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251166.2	NM_003337	
SLC25A48	153328	broad.mit.edu	37	5	135188326	135188326	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:135188326C>A	ENST00000420621.1	+	4	409	c.237C>A	c.(235-237)gtC>gtA	p.V79V	SLC25A48_ENST00000412661.2_Silent_p.V79V|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Silent_p.V79V|SLC25A48_ENST00000433282.2_Silent_p.V25V			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	79					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V79V(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TGTTTGGGGTCTTCAGTAACA	0.612																																					p.V79V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237A	5						.						111.0	120.0	117.0					5																	135188326		2035	4187	6222	135216225	SO:0001819	synonymous_variant	153328	exon4				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.237C>A	5.37:g.135188326C>A		Somatic		Capture	Illumina HiSeq	Phase_I	135216225	NM_145282	Q8TAV9	Silent	SNP	ENST00000420621.1	37																																																																																					0.612	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282	
LECT2	3950	broad.mit.edu	37	5	135272510	135272510	+	Intron	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:135272510T>G	ENST00000522943.1	-	4	418				LECT2_ENST00000471827.1_5'Flank|FBXL21_ENST00000297158.9_RNA|FBXL21_ENST00000467490.1_RNA			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.F76C(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGAAGTTTTTCATATTTCT	0.388																																					p.F76C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T227G	5						.						127.0	123.0	124.0					5																	135272510		1862	4098	5960	135300409	SO:0001627	intron_variant	26223	exon5			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.290-14387A>C	5.37:g.135272510T>G		Somatic		Capture	Illumina HiSeq	Phase_I	135300409	NM_012159	B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000522943.1	37																																																																																					0.388	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302	
KLHL3	26249	broad.mit.edu	37	5	136969755	136969755	+	Missense_Mutation	SNP	G	G	A	rs200144703		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:136969755G>A	ENST00000309755.4	-	12	1864	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	KLHL3_ENST00000508657.1_Missense_Mutation_p.A442V|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Missense_Mutation_p.A392V	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	474					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.A474V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCTCATGTCCGCCACGTATAT	0.532																																					p.A474V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421T	5						.						119.0	111.0	114.0					5																	136969755		2203	4300	6503	136997654	SO:0001583	missense	26249	exon12			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1421C>T	5.37:g.136969755G>A	ENSP00000312397:p.Ala474Val	Somatic		Capture	Illumina HiSeq	Phase_I	136997654	NM_017415	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375014	0.82573	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	T;T;T	0.80304	-1.36;-1.36;-1.36	5.21	5.21	0.72293	Galactose oxidase, beta-propeller (1);	0.055430	0.64402	D	0.000001	D	0.86033	0.5836	M	0.76938	2.355	0.80722	D	1	P;D;D	0.54207	0.709;0.961;0.965	B;P;P	0.49853	0.311;0.624;0.525	D	0.88185	0.2873	10	0.87932	D	0	.	18.9544	0.92653	0.0:0.0:1.0:0.0	.	209;442;474	B7Z6E2;Q9UH77-2;Q9UH77	.;.;KLHL3_HUMAN	V	392;442;474	ENSP00000424828:A392V;ENSP00000422099:A442V;ENSP00000312397:A474V	ENSP00000312397:A474V	A	-	2	0	KLHL3	136997654	1.000000	0.71417	0.994000	0.49952	0.358000	0.29455	7.660000	0.83776	2.708000	0.92522	0.650000	0.86243	GCG		0.532	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2		
MYOT	9499	broad.mit.edu	37	5	137219095	137219095	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:137219095A>T	ENST00000239926.4	+	7	1213	c.839A>T	c.(838-840)gAt>gTt	p.D280V	MYOT_ENST00000515645.1_Missense_Mutation_p.D165V|MYOT_ENST00000421631.2_Missense_Mutation_p.D96V|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	280	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.D280V(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGCTCCTGATGTGTCATGG	0.373																																					p.D280V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A839T	5						.						124.0	117.0	119.0					5																	137219095		2203	4300	6503	137246994	SO:0001583	missense	9499	exon7			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.839A>T	5.37:g.137219095A>T	ENSP00000239926:p.Asp280Val	Somatic		Capture	Illumina HiSeq	Phase_I	137246994	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756850	0.89843	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.67523	-0.27;-0.27;-0.27	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.75406	0.3845	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77757	-0.2468	10	0.62326	D	0.03	.	15.1564	0.72746	1.0:0.0:0.0:0.0	.	280	Q9UBF9	MYOTI_HUMAN	V	280;96;165	ENSP00000239926:D280V;ENSP00000391185:D96V;ENSP00000426281:D165V	ENSP00000239926:D280V	D	+	2	0	MYOT	137246994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.021000	0.59480	0.533000	0.62120	GAT		0.373	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
KDM3B	51780	broad.mit.edu	37	5	137727725	137727725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:137727725C>T	ENST00000314358.5	+	8	2604	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R458*|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	802					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R802*(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ACTGGATGAACGAAGCTTGGC	0.522																																					p.R802X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2404T	5						.						112.0	123.0	119.0					5																	137727725		2203	4300	6503	137755624	SO:0001587	stop_gained	51780	exon8			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2404C>T	5.37:g.137727725C>T	ENSP00000326563:p.Arg802*	Somatic		Capture	Illumina HiSeq	Phase_I	137755624	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	36	5.769132	0.96914	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0921	20.106	0.97895	0.0:1.0:0.0:0.0	.	.	.	.	X	802;592;458	.	ENSP00000326563:R802X	R	+	1	2	KDM3B	137755624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.401000	0.52601	2.762000	0.94881	0.561000	0.74099	CGA		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
KDM3B	51780	broad.mit.edu	37	5	137753249	137753249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:137753249C>T	ENST00000314358.5	+	13	3585	c.3385C>T	c.(3385-3387)Cga>Tga	p.R1129*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R785*|KDM3B_ENST00000542866.1_Nonsense_Mutation_p.R161*	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1129					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R1129*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTGTATCAGTCGACAGAACAA	0.418																																					p.R1129X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3385T	5						.						155.0	135.0	142.0					5																	137753249		2203	4300	6503	137781148	SO:0001587	stop_gained	51780	exon13			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3385C>T	5.37:g.137753249C>T	ENSP00000326563:p.Arg1129*	Somatic		Capture	Illumina HiSeq	Phase_I	137781148	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	39	7.495303	0.98319	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6718	13.7314	0.62789	0.3957:0.6043:0.0:0.0	.	.	.	.	X	1129;919;785;161	.	ENSP00000326563:R1129X	R	+	1	2	KDM3B	137781148	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.440000	0.44855	1.320000	0.45209	0.563000	0.77884	CGA		0.418	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
DNAH5	1767	broad.mit.edu	37	5	13752340	13752340	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:13752340C>T	ENST00000265104.4	-	64	11035	c.10931G>A	c.(10930-10932)gGa>gAa	p.G3644E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3644	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3644E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGGCCTTCCAAGAGAAAG	0.403									Kartagener syndrome																												p.G3644E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10931A	5						.						146.0	132.0	137.0					5																	13752340		2203	4300	6503	13805340	SO:0001583	missense	1767	exon64	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10931G>A	5.37:g.13752340C>T	ENSP00000265104:p.Gly3644Glu	Somatic		Capture	Illumina HiSeq	Phase_I	13805340	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140195	0.94560	.	.	ENSG00000039139	ENST00000265104	T	0.37584	1.19	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89788	0.3966	10	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	3644	Q8TE73	DYH5_HUMAN	E	3644	ENSP00000265104:G3644E	ENSP00000265104:G3644E	G	-	2	0	DNAH5	13805340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.308000	0.78929	2.865000	0.98341	0.655000	0.94253	GGA		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13770874	13770874	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:13770874G>A	ENST00000265104.4	-	56	9693	c.9589C>T	c.(9589-9591)Cgg>Tgg	p.R3197W	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3197W(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCAGGGTCCGCACCTCCACA	0.458									Kartagener syndrome																												p.R3197W												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C9589T	5						.						87.0	81.0	83.0					5																	13770874		2203	4300	6503	13823874	SO:0001583	missense	1767	exon56	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9589C>T	5.37:g.13770874G>A	ENSP00000265104:p.Arg3197Trp	Somatic		Capture	Illumina HiSeq	Phase_I	13823874	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139623	0.56936	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.81	5.81	0.92471	.	0.292466	0.38605	N	0.001629	T	0.29256	0.0728	L	0.41492	1.28	0.25247	N	0.989708	P	0.40619	0.724	B	0.40741	0.339	T	0.14868	-1.0457	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	3197	Q8TE73	DYH5_HUMAN	W	3197	ENSP00000265104:R3197W	ENSP00000265104:R3197W	R	-	1	2	DNAH5	13823874	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	5.598000	0.67585	2.738000	0.93877	0.655000	0.94253	CGG		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
EGR1	1958	broad.mit.edu	37	5	137803764	137803764	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:137803764T>C	ENST00000239938.4	+	2	1898	c.1626T>C	c.(1624-1626)atT>atC	p.I542I		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	542					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.I542I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAATTGAAATTTGCTAAAGGG	0.498																																					p.I542I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1626C	5						.						51.0	56.0	55.0					5																	137803764		2203	4300	6503	137831663	SO:0001819	synonymous_variant	1958	exon2			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1626T>C	5.37:g.137803764T>C		Somatic		Capture	Illumina HiSeq	Phase_I	137831663	NM_001964		Silent	SNP	ENST00000239938.4	37	CCDS4206.1																																																																																				0.498	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
DNAH5	1767	broad.mit.edu	37	5	13823440	13823440	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:13823440C>A	ENST00000265104.4	-	40	6723	c.6619G>T	c.(6619-6621)Gat>Tat	p.D2207Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2207				D -> N (in Ref. 2; AAL06603). {ECO:0000305}.	cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2207Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAAGAGATCTTCAATCAAA	0.383									Kartagener syndrome																												p.D2207Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6619T	5						.						132.0	136.0	135.0					5																	13823440		2203	4300	6503	13876440	SO:0001583	missense	1767	exon40	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6619G>T	5.37:g.13823440C>A	ENSP00000265104:p.Asp2207Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	13876440	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004834	0.93287	.	.	ENSG00000039139	ENST00000265104	T	0.40756	1.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90878	0.4751	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2207	Q8TE73	DYH5_HUMAN	Y	2207	ENSP00000265104:D2207Y	ENSP00000265104:D2207Y	D	-	1	0	DNAH5	13876440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13845101	13845101	+	Splice_Site	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:13845101A>G	ENST00000265104.4	-	32	5220	c.5116T>C	c.(5116-5118)Tac>Cac	p.Y1706H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1706	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y1706H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTCCAAGTACCTACAAGGA	0.448									Kartagener syndrome																												p.Y1706H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5116C	5						.						47.0	48.0	48.0					5																	13845101		2203	4300	6503	13898101	SO:0001630	splice_region_variant	1767	exon32	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5115-1T>C	5.37:g.13845101A>G		Somatic		Capture	Illumina HiSeq	Phase_I	13898101	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761407	0.49468	.	.	ENSG00000039139	ENST00000265104	T	0.72394	-0.65	4.85	4.85	0.62838	Dynein heavy chain, domain-2 (1);	0.065298	0.64402	D	0.000006	D	0.89701	0.6791	H	0.97962	4.115	0.58432	D	0.999997	D	0.63880	0.993	D	0.78314	0.991	D	0.93371	0.6735	10	0.87932	D	0	.	14.5198	0.67842	1.0:0.0:0.0:0.0	.	1706	Q8TE73	DYH5_HUMAN	H	1706	ENSP00000265104:Y1706H	ENSP00000265104:Y1706H	Y	-	1	0	DNAH5	13898101	1.000000	0.71417	0.959000	0.39883	0.014000	0.08584	8.958000	0.93099	1.840000	0.53500	0.529000	0.55759	TAC		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Missense_Mutation
DNAH5	1767	broad.mit.edu	37	5	13919297	13919297	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:13919297C>T	ENST00000265104.4	-	7	1067	c.963G>A	c.(961-963)tcG>tcA	p.S321S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	321	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S321S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGCAGTTTCGACTTGGCCG	0.433									Kartagener syndrome																												p.S321S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G963A	5						.						73.0	81.0	78.0					5																	13919297		2203	4300	6503	13972297	SO:0001819	synonymous_variant	1767	exon7	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.963G>A	5.37:g.13919297C>T		Somatic		Capture	Illumina HiSeq	Phase_I	13972297	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:13931251C>T	ENST00000265104.4	-	2	264	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	54	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E54K(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCACTTCGGTTTTGTTC	0.488									Kartagener syndrome																												p.E54K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G160A	5						.						123.0	116.0	118.0					5																	13931251		2203	4300	6503	13984251	SO:0001583	missense	1767	exon2	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.160G>A	5.37:g.13931251C>T	ENSP00000265104:p.Glu54Lys	Somatic		Capture	Illumina HiSeq	Phase_I	13984251	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753887	0.49362	.	.	ENSG00000039139	ENST00000265104	T	0.23348	1.91	5.45	5.45	0.79879	.	0.100160	0.64402	D	0.000003	T	0.29945	0.0749	M	0.79475	2.455	0.58432	D	0.999998	B	0.31931	0.347	B	0.21917	0.037	T	0.20107	-1.0285	10	0.11794	T	0.64	.	19.2383	0.93871	0.0:1.0:0.0:0.0	.	54	Q8TE73	DYH5_HUMAN	K	54	ENSP00000265104:E54K	ENSP00000265104:E54K	E	-	1	0	DNAH5	13984251	1.000000	0.71417	0.936000	0.37596	0.760000	0.43138	6.829000	0.75314	2.721000	0.93114	0.650000	0.86243	GAA		0.488	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MATR3	9782	broad.mit.edu	37	5	138643890	138643890	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:138643890G>T	ENST00000394805.3	+	2	1121	c.786G>T	c.(784-786)gaG>gaT	p.E262D	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.E262D|MATR3_ENST00000509990.1_Missense_Mutation_p.E262D|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.E262D|MATR3_ENST00000361059.2_Missense_Mutation_p.E262D|MATR3_ENST00000510056.1_Missense_Mutation_p.E262D	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	262					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.E262D(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTTACAAGAGAGATCTCTCT	0.443																																					p.E262D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G786T	5						.						81.0	84.0	83.0					5																	138643890		2203	4300	6503	138671789	SO:0001583	missense	9782	exon2			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.786G>T	5.37:g.138643890G>T	ENSP00000378284:p.Glu262Asp	Somatic		Capture	Illumina HiSeq	Phase_I	138671789	NM_001194955	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.81|13.81	2.349031|2.349031	0.41599|0.41599	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056|ENST00000515833	T;T;T;T;T;T;T|.	0.78924|.	-0.93;-0.93;-0.94;-0.94;-0.93;-1.22;-0.87|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.239295|.	0.49305|.	D|.	0.000152|.	T|T	0.45796|0.45796	0.1360|0.1360	N|N	0.08118|0.08118	0|0	0.42132|0.42132	D|D	0.991474|0.991474	P;P;P|.	0.52842|.	0.956;0.518;0.956|.	P;P;P|.	0.62184|.	0.899;0.68;0.899|.	T|T	0.41963|0.41963	-0.9479|-0.9479	10|5	0.23891|.	T|.	0.37|.	-11.1421|-11.1421	17.7041|17.7041	0.88303|0.88303	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	262;262;262|.	D6REM6;A8MXP9;P43243|.	.;.;MATR3_HUMAN|.	D|I	262|36	ENSP00000423533:E262D;ENSP00000354346:E262D;ENSP00000422319:E262D;ENSP00000378279:E262D;ENSP00000378284:E262D;ENSP00000423290:E262D;ENSP00000426743:E262D|.	ENSP00000354346:E262D|.	E|R	+|+	3|2	2|0	MATR3|MATR3	138671789|138671789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.151000|6.151000	0.71806|0.71806	2.689000|2.689000	0.91719|0.91719	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.443	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
ANKHD1	54882	broad.mit.edu	37	5	139908266	139908266	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:139908266G>A	ENST00000360839.2	+	29	5889	c.5735G>A	c.(5734-5736)cGt>cAt	p.R1912H	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R295H|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1912H|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1912H	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1912						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R1912H(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACAAGCCGTCTACCTAAC	0.493																																					p.R1912H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5735A	5						.						92.0	82.0	86.0					5																	139908266		2203	4300	6503	139888450	SO:0001583	missense	404734	exon29			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5735G>A	5.37:g.139908266G>A	ENSP00000354085:p.Arg1912His	Somatic		Capture	Illumina HiSeq	Phase_I	139888450	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637924	0.67130	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.68903	-0.32;-0.36;1.73;1.71;1.3;-0.36	4.98	4.98	0.66077	.	0.170221	0.52532	D	0.000073	T	0.79633	0.4479	L	0.58101	1.795	0.50039	D	0.999843	D;P;D;B;B;B	0.89917	1.0;0.61;1.0;0.035;0.013;0.013	D;B;D;B;B;B	0.72625	0.95;0.055;0.978;0.009;0.005;0.005	T	0.81109	-0.1082	10	0.66056	D	0.02	.	18.452	0.90707	0.0:0.0:1.0:0.0	.	295;342;295;1912;1912;1912	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	H	1912;1912;1912;568;347;434;295;1912	ENSP00000354085:R1912H;ENSP00000297183:R1912H;ENSP00000393204:R568H;ENSP00000390034:R434H;ENSP00000437687:R295H;ENSP00000432016:R1912H	ENSP00000432016:R1912H	R	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888450	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.471000	0.73562	2.595000	0.87683	0.650000	0.86243	CGT		0.493	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHA3	56145	broad.mit.edu	37	5	140181491	140181491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140181491G>A	ENST00000522353.2	+	1	709	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D237N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D237N(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTAAACGACAACGCCCC	0.443																																					p.D237N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G709A	5						.						56.0	56.0	56.0					5																	140181491		2203	4300	6503	140161675	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.709G>A	5.37:g.140181491G>A	ENSP00000429808:p.Asp237Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140161675	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.614397	0.87359	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.71579	-0.58;-0.58	4.86	4.86	0.63082	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43747	U	0.000531	D	0.90731	0.7091	H	0.98542	4.26	0.46901	D	0.999243	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94519	0.7725	10	0.87932	D	0	.	18.3352	0.90285	0.0:0.0:1.0:0.0	.	237;237	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	237	ENSP00000429808:D237N;ENSP00000434086:D237N	ENSP00000429808:D237N	D	+	1	0	PCDHA3	140161675	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.810000	0.99221	2.414000	0.81942	0.467000	0.42956	GAC		0.443	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA3	56145	broad.mit.edu	37	5	140181914	140181914	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140181914G>A	ENST00000522353.2	+	1	1132	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D378N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	378	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D378N(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCGACCGCGACTCAGGAGT	0.493																																					p.D378N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1132A	5						.						122.0	116.0	118.0					5																	140181914		2203	4300	6503	140162098	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1132G>A	5.37:g.140181914G>A	ENSP00000429808:p.Asp378Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140162098	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	16.27	3.075079	0.55646	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.74002	-0.8;-0.8	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.43579	U	0.000559	D	0.92721	0.7686	H	0.99391	4.545	0.46874	D	0.999235	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96159	0.9114	10	0.87932	D	0	.	18.1862	0.89793	0.0:0.0:1.0:0.0	.	378;378	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	378	ENSP00000429808:D378N;ENSP00000434086:D378N	ENSP00000429808:D378N	D	+	1	0	PCDHA3	140162098	1.000000	0.71417	0.656000	0.29637	0.011000	0.07611	9.869000	0.99810	2.378000	0.81104	0.467000	0.42956	GAC		0.493	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA7	56141	broad.mit.edu	37	5	140216093	140216093	+	Missense_Mutation	SNP	A	A	G	rs368394927		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140216093A>G	ENST00000525929.1	+	1	2125	c.2125A>G	c.(2125-2127)Agt>Ggt	p.S709G	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S709G|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	709					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S709G(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCCAGTCTGTTGGT	0.607																																					p.S709G	NSCLC(160;258 2013 5070 22440 28951)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2125G	5						.						120.0	100.0	107.0					5																	140216093		2203	4300	6503	140196277	SO:0001583	missense	56141	exon1			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2125A>G	5.37:g.140216093A>G	ENSP00000436426:p.Ser709Gly	Somatic		Capture	Illumina HiSeq	Phase_I	140196277	NM_018910	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404125	0.42613	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.21191	2.02;2.02	3.57	3.57	0.40892	.	0.000000	0.37577	U	0.002025	T	0.55081	0.1898	H	0.96080	3.765	0.23665	N	0.997165	P;D	0.89917	0.956;1.0	P;D	0.76071	0.781;0.987	T	0.54503	-0.8284	10	0.59425	D	0.04	.	9.3394	0.38071	0.8402:0.0:0.0:0.1598	.	709;709	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	G	709	ENSP00000436426:S709G;ENSP00000367365:S709G	ENSP00000367365:S709G	S	+	1	0	PCDHA7	140196277	0.000000	0.05858	0.998000	0.56505	0.291000	0.27294	0.012000	0.13287	1.603000	0.50134	0.379000	0.24179	AGT		0.607	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHAC1	56135	broad.mit.edu	37	5	140307977	140307977	+	Silent	SNP	G	G	A	rs17844366	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140307977G>A	ENST00000253807.2	+	1	1500	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.V500V|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V500V(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGCAGTGGAATCATCCA	0.532													g|||	2	0.000399361	0.0	0.0	5008	,	,		17743	0.002		0.0	False		,,,				2504	0.0				p.V500V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1500A	5						.						69.0	75.0	73.0					5																	140307977		2203	4300	6503	140288161	SO:0001819	synonymous_variant	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1500G>A	5.37:g.140307977G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140288161	NM_031882	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	CCDS4241.1																																																																																				0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHAC2	56134	broad.mit.edu	37	5	140346800	140346800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140346800G>A	ENST00000289269.5	+	1	981	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTTCCCGCGGCCCAACTAC	0.612																																					p.R150Q	Melanoma(190;638 2083 3390 11909 52360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	5						.						33.0	36.0	35.0					5																	140346800		2203	4300	6503	140326984	SO:0001583	missense	56134	exon1			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.449G>A	5.37:g.140346800G>A	ENSP00000289269:p.Arg150Gln	Somatic		Capture	Illumina HiSeq	Phase_I	140326984	NM_018899	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204821	0.79127	.	.	ENSG00000243232	ENST00000289269	T	0.18960	2.18	5.43	4.53	0.55603	Cadherin (2);Cadherin-like (1);	0.000000	0.38381	N	0.001719	T	0.21468	0.0517	N	0.11255	0.115	0.48901	D	0.999726	P;D	0.89917	0.625;1.0	B;P	0.59115	0.186;0.852	T	0.07654	-1.0761	10	0.15499	T	0.54	.	15.2757	0.73739	0.0:0.0:0.8587:0.1413	.	150;150	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	Q	150	ENSP00000289269:R150Q	ENSP00000289269:R150Q	R	+	2	0	PCDHAC2	140326984	0.986000	0.35501	0.982000	0.44146	0.992000	0.81027	2.422000	0.44696	1.233000	0.43693	0.555000	0.69702	CGG		0.612	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHB1	29930	broad.mit.edu	37	5	140431478	140431478	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140431478G>T	ENST00000306549.3	+	1	500	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	141	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K141N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTTTTAAAGATTCCGGAGA	0.547																																					p.K141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G423T	5						.						35.0	37.0	36.0					5																	140431478		2203	4300	6503	140411662	SO:0001583	missense	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.423G>T	5.37:g.140431478G>T	ENSP00000307234:p.Lys141Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140411662	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584853	0.28268	.	.	ENSG00000171815	ENST00000306549	T	0.52057	0.68	5.91	4.12	0.48240	Cadherin (3);Cadherin-like (1);	0.263228	0.26832	N	0.022280	T	0.35998	0.0951	L	0.39898	1.24	0.33339	D	0.569614	B	0.16603	0.018	B	0.15870	0.014	T	0.44982	-0.9292	10	0.44086	T	0.13	.	7.8163	0.29260	0.3311:0.0:0.6689:0.0	.	141	Q9Y5F3	PCDB1_HUMAN	N	141	ENSP00000307234:K141N	ENSP00000307234:K141N	K	+	3	2	PCDHB1	140411662	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-1.015000	0.03637	1.516000	0.48900	0.655000	0.94253	AAG		0.547	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB2	56133	broad.mit.edu	37	5	140476442	140476442	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140476442G>A	ENST00000194155.4	+	1	2216	c.2068G>A	c.(2068-2070)Gtc>Atc	p.V690I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	690					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V690I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGCTCACCGTCTACCTGGT	0.697																																					p.V690I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2068A	5						.						60.0	63.0	62.0					5																	140476442		2115	4168	6283	140456626	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2068G>A	5.37:g.140476442G>A	ENSP00000194155:p.Val690Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140456626	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728563	0.30593	.	.	ENSG00000112852	ENST00000194155	T	0.49720	0.77	3.99	0.972	0.19704	.	.	.	.	.	T	0.41650	0.1168	M	0.69358	2.11	0.09310	N	1	B	0.20887	0.049	B	0.17979	0.02	T	0.40831	-0.9542	9	0.54805	T	0.06	.	4.684	0.12748	0.3314:0.316:0.3526:0.0	.	690	Q9Y5E7	PCDB2_HUMAN	I	690	ENSP00000194155:V690I	ENSP00000194155:V690I	V	+	1	0	PCDHB2	140456626	0.000000	0.05858	0.675000	0.29917	0.906000	0.53458	-1.426000	0.02443	0.239000	0.21243	0.456000	0.33151	GTC		0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB4	56131	broad.mit.edu	37	5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T	rs375620247		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140502262C>T	ENST00000194152.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R228*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCATGGTTCGAATCCTGAT	0.542																																					p.R228X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C682T	5						.	C	stop/ARG	0,4406		0,0,2203	131.0	121.0	124.0		682	2.5	0.0	5		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PCDHB4	NM_018938.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/796	140502262	1,13005	2203	4300	6503	140482446	SO:0001587	stop_gained	56131	exon1			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.682C>T	5.37:g.140502262C>T	ENSP00000194152:p.Arg228*	Somatic		Capture	Illumina HiSeq	Phase_I	140482446	NM_018938	Q4V761	Nonsense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674784	0.47781	0.0	1.16E-4	ENSG00000081818	ENST00000194152	.	.	.	4.31	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5138	0.61528	0.5737:0.4263:0.0:0.0	.	.	.	.	X	228	.	ENSP00000194152:R228X	R	+	1	2	PCDHB4	140482446	0.000000	0.05858	0.034000	0.17996	0.747000	0.42532	-1.935000	0.01550	0.517000	0.28361	0.650000	0.86243	CGA		0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB8	56128	broad.mit.edu	37	5	140558318	140558318	+	Missense_Mutation	SNP	G	G	A	rs146359786		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140558318G>A	ENST00000239444.2	+	1	948	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D235N(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAGTTGTCGATGTCAATGA	0.512																																					p.D235N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G703A	5						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	184.0	230.0	214.0		703	4.2	0.0	5	dbSNP_134	214	0,8566		0,0,4283	no	missense	PCDHB8	NM_019120.3	23	0,1,6485	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	235/802	140558318	1,12971	2203	4283	6486	140538502	SO:0001583	missense	56128	exon1			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.703G>A	5.37:g.140558318G>A	ENSP00000239444:p.Asp235Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140538502	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	14.96	2.691508	0.48097	2.27E-4	0.0	ENSG00000120322	ENST00000239444	T	0.74209	-0.82	4.25	4.25	0.50352	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89136	0.6629	M	0.92459	3.31	0.47584	D	0.999465	D	0.89917	1.0	D	0.97110	1.0	D	0.92309	0.5856	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	235	Q9UN66	PCDB8_HUMAN	N	235	ENSP00000239444:D235N	ENSP00000239444:D235N	D	+	1	0	PCDHB8	140538502	1.000000	0.71417	0.042000	0.18584	0.003000	0.03518	9.809000	0.99208	1.911000	0.55334	0.585000	0.79938	GAT		0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB8	56128	broad.mit.edu	37	5	140558491	140558491	+	Silent	SNP	T	T	G	rs541365803		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140558491T>G	ENST00000239444.2	+	1	1121	c.876T>G	c.(874-876)acT>acG	p.T292T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	292	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T292T(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGCAAAACTTTTAAGGTCG	0.413																																					p.T292T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T876G	5						.						132.0	190.0	170.0					5																	140558491		2203	4300	6503	140538675	SO:0001819	synonymous_variant	56128	exon1			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.876T>G	5.37:g.140558491T>G		Somatic		Capture	Illumina HiSeq	Phase_I	140538675	NM_019120	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.413	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB10	56126	broad.mit.edu	37	5	140573769	140573769	+	Silent	SNP	C	C	T	rs146809844	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140573769C>T	ENST00000239446.4	+	1	1828	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R548R(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGCGTGCTGGTGC	0.721																																					p.R548R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1644T	5						.						27.0	39.0	35.0					5																	140573769		2143	4244	6387	140553953	SO:0001819	synonymous_variant	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1644C>T	5.37:g.140573769C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140553953	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.721	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB14	56122	broad.mit.edu	37	5	140605139	140605139	+	Missense_Mutation	SNP	G	G	A	rs371730182		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140605139G>A	ENST00000239449.4	+	1	2062	c.2062G>A	c.(2062-2064)Gtc>Atc	p.V688I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.V535I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	688					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V688I(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCTCACCGTCTACCTGGT	0.706																																					p.V688I	Ovarian(141;50 1831 27899 33809 37648)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2062A	5						.	G	ILE/VAL	1,4391		0,1,2195	79.0	88.0	85.0		2062	-0.4	0.1	5		85	0,8570		0,0,4285	no	missense	PCDHB14	NM_018934.2	29	0,1,6480	AA,AG,GG		0.0,0.0228,0.0077	benign	688/799	140605139	1,12961	2196	4285	6481	140585323	SO:0001583	missense	56122	exon1			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2062G>A	5.37:g.140605139G>A	ENSP00000239449:p.Val688Ile	Somatic		Capture	Illumina HiSeq	Phase_I	140585323	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	9.941	1.217425	0.22373	2.28E-4	0.0	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52526	0.66;0.67	4.17	-0.366	0.12545	.	.	.	.	.	T	0.41766	0.1173	M	0.71920	2.185	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.42050	-0.9474	9	0.54805	T	0.06	.	4.6634	0.12653	0.0804:0.4313:0.272:0.2163	.	688	Q9Y5E9	PCDBE_HUMAN	I	535;688	ENSP00000444518:V535I;ENSP00000239449:V688I	ENSP00000239449:V688I	V	+	1	0	PCDHB14	140585323	0.000000	0.05858	0.051000	0.19133	0.013000	0.08279	-1.782000	0.01772	-0.000000	0.14550	-0.845000	0.03042	GTC		0.706	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
PCDHGA1	56114	broad.mit.edu	37	5	140712504	140712504	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140712504G>T	ENST00000517417.1	+	1	2253	c.2253G>T	c.(2251-2253)caG>caT	p.Q751H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q751H	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	751					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q751H(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCCTGCAGACCTATTCCC	0.617																																					p.Q751H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2253T	5						.						72.0	77.0	75.0					5																	140712504		2203	4298	6501	140692688	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2253G>T	5.37:g.140712504G>T	ENSP00000431083:p.Gln751His	Somatic		Capture	Illumina HiSeq	Phase_I	140692688	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	15.62	2.888237	0.52014	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51574	0.72;0.7	3.89	3.89	0.44902	.	0.000000	0.47093	D	0.000260	T	0.71082	0.3298	M	0.86573	2.825	0.23210	N	0.998116	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.65401	-0.6177	10	0.87932	D	0	.	14.1886	0.65623	0.0:0.0:1.0:0.0	.	751;751	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	751	ENSP00000431083:Q751H;ENSP00000367345:Q751H	ENSP00000367345:Q751H	Q	+	3	2	PCDHGA1	140692688	0.000000	0.05858	1.000000	0.80357	0.911000	0.54048	0.058000	0.14301	2.167000	0.68274	0.585000	0.79938	CAG		0.617	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA3	56112	broad.mit.edu	37	5	140724837	140724837	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140724837G>A	ENST00000253812.6	+	1	1237	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E413K(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAACAAATATC	0.448																																					p.E413K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1237A	5						.						58.0	63.0	61.0					5																	140724837		1955	4147	6102	140705021	SO:0001583	missense	56112	exon1			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1237G>A	5.37:g.140724837G>A	ENSP00000253812:p.Glu413Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140705021	NM_018916	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	16.77	3.215500	0.58452	.	.	ENSG00000254245	ENST00000253812	T	0.72394	-0.65	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	0.000000	0.33401	U	0.004950	D	0.90645	0.7066	H	0.97783	4.075	0.44024	D	0.996744	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93831	0.7128	10	0.87932	D	0	.	19.0361	0.92978	0.0:0.0:1.0:0.0	.	413;413	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	K	413	ENSP00000253812:E413K	ENSP00000253812:E413K	E	+	1	0	PCDHGA3	140705021	1.000000	0.71417	0.153000	0.22517	0.130000	0.20726	9.695000	0.98691	2.674000	0.91012	0.655000	0.94253	GAA		0.448	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGA5	56110	broad.mit.edu	37	5	140745636	140745636	+	Missense_Mutation	SNP	G	G	A	rs544928184	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140745636G>A	ENST00000518069.1	+	1	1739	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	580	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R580H(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGCCTCGCTCCGCAGAA	0.627																																					p.R580H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1739A	5						.						98.0	110.0	106.0					5																	140745636		2203	4300	6503	140725820	SO:0001583	missense	56110	exon1			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1739G>A	5.37:g.140745636G>A	ENSP00000429834:p.Arg580His	Somatic		Capture	Illumina HiSeq	Phase_I	140725820	NM_032054	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.894876	0.33442	.	.	ENSG00000253485	ENST00000518069	T	0.15603	2.41	4.72	2.86	0.33363	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.23370	0.0565	M	0.83012	2.62	0.09310	N	1	P;P	0.44877	0.813;0.845	B;B	0.40940	0.316;0.344	T	0.16719	-1.0393	9	0.66056	D	0.02	.	6.9748	0.24669	0.0814:0.0:0.612:0.3067	.	580;580	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	H	580	ENSP00000429834:R580H	ENSP00000429834:R580H	R	+	2	0	PCDHGA5	140725820	0.000000	0.05858	0.240000	0.24138	0.420000	0.31355	0.743000	0.26231	0.477000	0.27464	0.563000	0.77884	CGC		0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGB3	56102	broad.mit.edu	37	5	140778847	140778847	+	Intron	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140778847G>A	ENST00000576222.1	+	1	2546				PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACAAGGCGAAGTCCCTTT	0.418																																					p.E385K												.	.	0			c.G1153A	5						.						72.0	74.0	73.0					5																	140778847		1901	4123	6024	140759031	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26471G>A	5.37:g.140778847G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140759031	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.418	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB7	56099	broad.mit.edu	37	5	140798931	140798931	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140798931C>T	ENST00000398594.2	+	1	1505	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S502L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAACGCTGTCGTCCTACGTG	0.657																																					p.S502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	5						.						69.0	77.0	74.0					5																	140798931		2134	4237	6371	140779115	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1505C>T	5.37:g.140798931C>T	ENSP00000381594:p.Ser502Leu	Somatic		Capture	Illumina HiSeq	Phase_I	140779115	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	10.13	1.264733	0.23136	.	.	ENSG00000254122	ENST00000398594	T	0.53206	0.63	5.19	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.647067	0.11470	U	0.560898	T	0.40886	0.1135	L	0.43757	1.38	0.25330	N	0.98904	B;B	0.27951	0.195;0.055	B;B	0.25884	0.064;0.032	T	0.29971	-0.9994	10	0.54805	T	0.06	.	10.937	0.47251	0.0:0.8469:0.0:0.1531	.	502;502	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	502	ENSP00000381594:S502L	ENSP00000381594:S502L	S	+	2	0	PCDHGB7	140779115	0.001000	0.12720	0.834000	0.33040	0.009000	0.06853	1.167000	0.31847	0.585000	0.29608	-0.339000	0.08088	TCG		0.657	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGB7	56099	broad.mit.edu	37	5	140799419	140799419	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140799419G>A	ENST00000398594.2	+	1	1993	c.1993G>A	c.(1993-1995)Gca>Aca	p.A665T	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	665	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A665T(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTGTTCGCAGATAGCTT	0.587																																					p.A665T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1993A	5						.						82.0	88.0	86.0					5																	140799419		2203	4295	6498	140779603	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1993G>A	5.37:g.140799419G>A	ENSP00000381594:p.Ala665Thr	Somatic		Capture	Illumina HiSeq	Phase_I	140779603	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	16.62	3.173045	0.57584	.	.	ENSG00000254122	ENST00000398594	T	0.48836	0.8	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.000000	0.32687	U	0.005761	T	0.64627	0.2615	L	0.42744	1.35	0.31106	N	0.710563	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.65763	-0.6089	10	0.87932	D	0	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	665;665	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	665	ENSP00000381594:A665T	ENSP00000381594:A665T	A	+	1	0	PCDHGB7	140779603	0.888000	0.30383	0.631000	0.29282	0.467000	0.32768	4.692000	0.61746	2.724000	0.93272	0.561000	0.74099	GCA		0.587	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGC4	56098	broad.mit.edu	37	5	140865806	140865806	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140865806C>T	ENST00000306593.1	+	1	1066	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L356F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCAGAGCTTGGAACCCT	0.557																																					p.L356F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1066T	5						.						92.0	84.0	87.0					5																	140865806		2203	4300	6503	140845990	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1066C>T	5.37:g.140865806C>T	ENSP00000306918:p.Leu356Phe	Somatic		Capture	Illumina HiSeq	Phase_I	140845990	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517305	0.27123	.	.	ENSG00000242419	ENST00000306593	T	0.01304	5.03	4.87	3.99	0.46301	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.24115	0.695	0.09310	N	1	P;D	0.55172	0.539;0.97	B;P	0.56751	0.139;0.805	T	0.43972	-0.9358	9	0.09338	T	0.73	.	3.8517	0.08957	0.1728:0.5785:0.0:0.2487	.	356;356	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	F	356	ENSP00000306918:L356F	ENSP00000306918:L356F	L	+	1	0	PCDHGC4	140845990	0.000000	0.05858	0.998000	0.56505	0.983000	0.72400	-0.047000	0.11963	1.247000	0.43917	0.462000	0.41574	CTT		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
DIAPH1	1729	broad.mit.edu	37	5	140957060	140957060	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:140957060C>T	ENST00000398557.4	-	12	1402	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	DIAPH1_ENST00000253811.6_Missense_Mutation_p.R421Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R412Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R412Q|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R367Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R412Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R421Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R412Q	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	421	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)	p.R421Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGTCATTTCGGACCAAGAG	0.403																																					p.R421Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262A	5						.						143.0	140.0	141.0					5																	140957060		1882	4108	5990	140937244	SO:0001583	missense	1729	exon12			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1262G>A	5.37:g.140957060C>T	ENSP00000381565:p.Arg421Gln	Somatic		Capture	Illumina HiSeq	Phase_I	140937244	NM_005219	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849353	0.97023	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.77	5.77	0.91146	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000027	D	0.93805	0.8019	M	0.82132	2.575	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.985	D	0.94076	0.7340	10	0.87932	D	0	.	18.7641	0.91865	0.0:1.0:0.0:0.0	.	412;421	E9PEZ2;O60610	.;DIAP1_HUMAN	Q	421;367;412;412;412;421;421;412	ENSP00000373706:R421Q;ENSP00000429282:R367Q;ENSP00000381570:R412Q;ENSP00000373709:R412Q;ENSP00000381572:R412Q;ENSP00000381565:R421Q;ENSP00000253811:R421Q;ENSP00000428268:R412Q	ENSP00000253811:R421Q	R	-	2	0	DIAPH1	140937244	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.455000	0.80726	2.729000	0.93468	0.467000	0.42956	CGA		0.403	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	
TCERG1	10915	broad.mit.edu	37	5	145859605	145859605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:145859605G>T	ENST00000296702.5	+	12	1872	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.E591*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	612					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.E612*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGGAACAAGAATTAATGGA	0.264																																					p.E591X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1771T	5						.						35.0	39.0	38.0					5																	145859605		2194	4284	6478	145839798	SO:0001587	stop_gained	10915	exon11			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1834G>T	5.37:g.145859605G>T	ENSP00000296702:p.Glu612*	Somatic		Capture	Illumina HiSeq	Phase_I	145839798	NM_001040006	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	37	6.312684	0.97467	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.25	5.25	0.73442	.	0.192864	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-18.6783	19.2097	0.93748	0.0:0.0:1.0:0.0	.	.	.	.	X	612;591	.	ENSP00000296702:E612X	E	+	1	0	TCERG1	145839798	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	6.267000	0.72546	2.612000	0.88384	0.467000	0.42956	GAA		0.264	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	broad.mit.edu	37	5	145883448	145883448	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:145883448G>A	ENST00000296702.5	+	18	2647	c.2609G>A	c.(2608-2610)cGa>cAa	p.R870Q	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R849Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	870					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.R870Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAGCCTTCGAGAACGAGAA	0.418																																					p.R849Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2546A	5						.						101.0	110.0	107.0					5																	145883448		2203	4300	6503	145863641	SO:0001583	missense	10915	exon17			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2609G>A	5.37:g.145883448G>A	ENSP00000296702:p.Arg870Gln	Somatic		Capture	Illumina HiSeq	Phase_I	145863641	NM_001040006	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670642	0.96754	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.32023	1.47;1.49	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.987;0.997	P;P	0.56960	0.81;0.788	T	0.38607	-0.9653	10	0.62326	D	0.03	-9.0583	19.7654	0.96337	0.0:0.0:1.0:0.0	.	849;870	O14776-2;O14776	.;TCRG1_HUMAN	Q	870;849	ENSP00000296702:R870Q;ENSP00000377943:R849Q	ENSP00000296702:R870Q	R	+	2	0	TCERG1	145863641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.570000	0.98174	2.750000	0.94351	0.655000	0.94253	CGA		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
PPP2R2B	5521	broad.mit.edu	37	5	146435262	146435262	+	5'UTR	SNP	C	C	T	rs377462455		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:146435262C>T	ENST00000356826.3	-	0	438				PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E14K|PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000394409.3_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000336640.6_Silent_p.P15P	NM_181674.2	NP_858060.2	Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P15P(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGGTGTTCGGAGGTCTGA	0.453																																					p.P15P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G45A	5						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	102.0	90.0	94.0		,45,,	4.8	1.0	5		94	0,8600		0,0,4300	no	utr-5,coding-synonymous,intron,intron	PPP2R2B	NM_181674.2,NM_181676.2,NM_181677.2,NM_181678.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,15/447,,	146435262	1,13005	2203	4300	6503	146415455	SO:0001623	5_prime_UTR_variant	5521	exon1			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000356826.3:c.-159G>A	5.37:g.146435262C>T		Somatic		Capture	Illumina HiSeq	Phase_I	146415455	NM_181676	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000356826.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346719	0.41599	2.27E-4	0.0	ENSG00000156475	ENST00000394414	T	0.32272	1.46	5.68	4.8	0.61643	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40175	-0.9577	6	0.87932	D	0	-7.1724	8.5607	0.33509	0.0:0.7625:0.1542:0.0834	.	.	.	.	K	14	ENSP00000377936:E14K	ENSP00000377936:E14K	E	-	1	0	AC011357.1	146415455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.126000	0.42026	1.375000	0.46248	0.655000	0.94253	GAA		0.453	PPP2R2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388939.2	NM_181678	
ANKH	56172	broad.mit.edu	37	5	14713764	14713764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:14713764G>A	ENST00000284268.6	-	10	1484	c.1154C>T	c.(1153-1155)gCg>gTg	p.A385V	ANKH_ENST00000535119.1_Missense_Mutation_p.A187V	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	385					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.A385V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTGAGATGCGCCCTCACTGT	0.617																																					p.A385V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1154T	5						.						145.0	112.0	123.0					5																	14713764		2203	4300	6503	14766764	SO:0001583	missense	56172	exon10			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1154C>T	5.37:g.14713764G>A	ENSP00000284268:p.Ala385Val	Somatic		Capture	Illumina HiSeq	Phase_I	14766764	NM_054027	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123430	0.94429	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.97089	-3.42;-4.24	5.45	5.45	0.79879	.	0.093790	0.64402	D	0.000001	D	0.97021	0.9027	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.97978	1.0347	10	0.59425	D	0.04	-31.9364	18.2736	0.90076	0.0:0.0:1.0:0.0	.	385	Q9HCJ1	ANKH_HUMAN	V	187;385	ENSP00000442524:A187V;ENSP00000284268:A385V	ENSP00000284268:A385V	A	-	2	0	ANKH	14766764	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.864000	0.99589	2.551000	0.86045	0.591000	0.81541	GCG		0.617	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	
DPYSL3	1809	broad.mit.edu	37	5	146773643	146773643	+	Silent	SNP	G	G	A	rs200584034		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:146773643G>A	ENST00000398514.3	-	14	2039	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	DPYSL3_ENST00000343218.5_Silent_p.I670I|DPYSL3_ENST00000534907.1_Silent_p.I182I	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	556					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.I556I(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGCCACGATGCGCTTGC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15189	0.0		0.0	False		,,,				2504	0.0				p.I556I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1668T	5						.						58.0	61.0	60.0					5																	146773643		1841	4083	5924	146753836	SO:0001819	synonymous_variant	1809	exon14			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1668C>T	5.37:g.146773643G>A		Somatic		Capture	Illumina HiSeq	Phase_I	146753836	NM_001387	B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	CCDS43381.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.921	0.539668	0.13250	.	.	ENSG00000113657	ENST00000520473	.	.	.	5.42	0.356	0.16074	.	.	.	.	.	T	0.51295	0.1666	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-8.7202	5.4975	0.16811	0.5264:0.0:0.3385:0.1351	.	.	.	.	C	195	.	.	R	-	1	0	DPYSL3	146753836	0.900000	0.30661	1.000000	0.80357	0.712000	0.41017	0.002000	0.13061	0.109000	0.17891	-0.224000	0.12420	CGT		0.527	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387	
CSF1R	1436	broad.mit.edu	37	5	149436869	149436869	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:149436869G>A	ENST00000286301.3	-	17	2591	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.A767V(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGCGAGGAAGGCCATGCCCTG	0.627																																					p.A767V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2300T	5						.						55.0	48.0	50.0					5																	149436869		2203	4300	6503	149417062	SO:0001583	missense	1436	exon17			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2300C>T	5.37:g.149436869G>A	ENSP00000286301:p.Ala767Val	Somatic		Capture	Illumina HiSeq	Phase_I	149417062	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276338	0.80580	.	.	ENSG00000182578	ENST00000286301	D	0.83419	-1.72	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000032	D	0.87458	0.6182	L	0.35249	1.045	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.88372	0.2995	10	0.62326	D	0.03	.	19.2018	0.93714	0.0:0.0:1.0:0.0	.	767	P07333	CSF1R_HUMAN	V	767	ENSP00000286301:A767V	ENSP00000286301:A767V	A	-	2	0	CSF1R	149417062	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.058000	0.76676	2.553000	0.86117	0.561000	0.74099	GCC		0.627	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
SLC6A7	6534	broad.mit.edu	37	5	149589168	149589168	+	Missense_Mutation	SNP	C	C	T	rs561904674		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:149589168C>T	ENST00000230671.2	+	14	2272	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	SLC6A7_ENST00000524041.1_Intron	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	634					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S634L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GAGGAGGAGTCGATGATGTGA	0.607																																					p.S634L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1901T	5						.						48.0	36.0	40.0					5																	149589168		2195	4298	6493	149569361	SO:0001583	missense	6534	exon14			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1901C>T	5.37:g.149589168C>T	ENSP00000230671:p.Ser634Leu	Somatic		Capture	Illumina HiSeq	Phase_I	149569361	NM_014228	Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956412	0.53293	.	.	ENSG00000011083	ENST00000230671	T	0.74002	-0.8	5.05	5.05	0.67936	.	1.503550	0.04078	N	0.309204	T	0.80763	0.4685	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.70684	-0.4804	10	0.62326	D	0.03	.	18.4283	0.90617	0.0:1.0:0.0:0.0	.	634	Q99884	SC6A7_HUMAN	L	634	ENSP00000230671:S634L	ENSP00000230671:S634L	S	+	2	0	SLC6A7	149569361	1.000000	0.71417	0.959000	0.39883	0.236000	0.25371	5.368000	0.66133	2.352000	0.79861	0.561000	0.74099	TCG		0.607	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228	
NDST1	3340	broad.mit.edu	37	5	149931335	149931335	+	Missense_Mutation	SNP	T	T	G	rs573765554		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:149931335T>G	ENST00000261797.6	+	14	2949	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C	NDST1_ENST00000523767.1_Missense_Mutation_p.F759C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	816	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.F816C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAAGGATTTTGGTGCCAA	0.507													T|||	1	0.000199681	0.0	0.0	5008	,	,		20990	0.0		0.0	False		,,,				2504	0.001				p.F816C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2447G	5						.						83.0	82.0	82.0					5																	149931335		2203	4300	6503	149911528	SO:0001583	missense	3340	exon14			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2447T>G	5.37:g.149931335T>G	ENSP00000261797:p.Phe816Cys	Somatic		Capture	Illumina HiSeq	Phase_I	149911528	NM_001543	Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652507	0.88056	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.61859	0.07;0.07	4.77	4.77	0.60923	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87474	0.2416	10	0.87932	D	0	.	14.5871	0.68335	0.0:0.0:0.0:1.0	.	759;816	E7EVJ3;P52848	.;NDST1_HUMAN	C	759;816	ENSP00000428604:F759C;ENSP00000261797:F816C	ENSP00000261797:F816C	F	+	2	0	NDST1	149911528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	1.917000	0.55516	0.482000	0.46254	TTT		0.507	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543	
FAT2	2196	broad.mit.edu	37	5	150914173	150914173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:150914173C>T	ENST00000261800.5	-	12	9236	c.9224G>A	c.(9223-9225)cGa>cAa	p.R3075Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3075	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3075Q(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTTTCTCGGTCTAGGGC	0.522																																					p.R3075Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9224A	5						.						105.0	89.0	94.0					5																	150914173		2203	4300	6503	150894366	SO:0001583	missense	2196	exon12			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9224G>A	5.37:g.150914173C>T	ENSP00000261800:p.Arg3075Gln	Somatic		Capture	Illumina HiSeq	Phase_I	150894366	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	36	5.680836	0.96774	.	.	ENSG00000086570	ENST00000261800	T	0.01725	4.67	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000233	T	0.16514	0.0397	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01863	-1.1258	10	0.54805	T	0.06	.	19.214	0.93768	0.0:1.0:0.0:0.0	.	3075	Q9NYQ8	FAT2_HUMAN	Q	3075	ENSP00000261800:R3075Q	ENSP00000261800:R3075Q	R	-	2	0	FAT2	150894366	1.000000	0.71417	0.972000	0.41901	0.919000	0.55068	7.755000	0.85180	2.538000	0.85594	0.563000	0.77884	CGA		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150924552	150924552	+	Missense_Mutation	SNP	G	G	A	rs375082505		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:150924552G>A	ENST00000261800.5	-	9	6148	c.6136C>T	c.(6136-6138)Cgg>Tgg	p.R2046W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2046	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2046W(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGGTGTCCGATTGTCCCTC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19853	0.0		0.0	False		,,,				2504	0.001				p.R2046W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6136T	5						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	96.0	95.0		6136	1.2	0.1	5		95	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2046/4350	150924552	1,13005	2203	4300	6503	150904745	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6136C>T	5.37:g.150924552G>A	ENSP00000261800:p.Arg2046Trp	Somatic		Capture	Illumina HiSeq	Phase_I	150904745	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428252	0.43122	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.61274	0.12	5.39	1.2	0.21068	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000057	T	0.73613	0.3609	M	0.76002	2.32	0.28594	N	0.909487	D	0.89917	1.0	D	0.97110	1.0	T	0.71909	-0.4450	10	0.62326	D	0.03	.	15.0501	0.71862	0.0:0.0:0.392:0.608	.	2046	Q9NYQ8	FAT2_HUMAN	W	2046	ENSP00000261800:R2046W	ENSP00000261800:R2046W	R	-	1	2	FAT2	150904745	0.999000	0.42202	0.103000	0.21229	0.894000	0.52154	3.098000	0.50259	0.217000	0.20800	0.561000	0.74099	CGG		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
SPARC	6678	broad.mit.edu	37	5	151045995	151045995	+	Missense_Mutation	SNP	C	C	T	rs373654699		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:151045995C>T	ENST00000231061.4	-	8	974	c.661G>A	c.(661-663)Gag>Aag	p.E221K	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	221					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.E221K(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TAGTTCTTCTCGAAGTCCCGG	0.557																																					p.E221K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	5						.						77.0	71.0	73.0					5																	151045995		2203	4300	6503	151026188	SO:0001583	missense	6678	exon8				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.661G>A	5.37:g.151045995C>T	ENSP00000231061:p.Glu221Lys	Somatic		Capture	Illumina HiSeq	Phase_I	151026188	NM_003118	D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423847	0.43020	.	.	ENSG00000113140	ENST00000231061;ENST00000538026	T	0.25085	1.82	5.64	3.82	0.43975	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.144593	0.64402	D	0.000008	T	0.22437	0.0541	L	0.45137	1.4	0.53688	D	0.999973	B	0.15719	0.014	B	0.06405	0.002	T	0.03641	-1.1017	10	0.14656	T	0.56	-22.7082	16.1145	0.81295	0.0:0.7493:0.2507:0.0	.	221	P09486	SPRC_HUMAN	K	221;130	ENSP00000231061:E221K	ENSP00000231061:E221K	E	-	1	0	SPARC	151026188	0.997000	0.39634	0.942000	0.38095	0.990000	0.78478	3.549000	0.53681	0.701000	0.31803	0.655000	0.94253	GAG		0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118	
LPCAT1	79888	broad.mit.edu	37	5	1463862	1463862	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:1463862C>A	ENST00000283415.3	-	14	1641	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	503					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.E503D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CAGGTGAGGTCTCTGCACAGC	0.537																																					p.E503D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1509T	5						.						111.0	109.0	110.0					5																	1463862		2203	4300	6503	1516862	SO:0001583	missense	79888	exon14			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1509G>T	5.37:g.1463862C>A	ENSP00000283415:p.Glu503Asp	Somatic		Capture	Illumina HiSeq	Phase_I	1516862	NM_024830	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786458	0.31593	.	.	ENSG00000153395	ENST00000283415	T	0.70631	-0.5	4.23	3.33	0.38152	.	1.139630	0.06229	N	0.688255	T	0.56543	0.1992	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.46428	-0.9192	10	0.42905	T	0.14	-5.535	9.8545	0.41077	0.0:0.79:0.21:0.0	.	503	Q8NF37	PCAT1_HUMAN	D	503	ENSP00000283415:E503D	ENSP00000283415:E503D	E	-	3	2	LPCAT1	1516862	0.739000	0.28196	0.003000	0.11579	0.013000	0.08279	0.754000	0.26390	0.725000	0.32318	0.561000	0.74099	GAG		0.537	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830	
G3BP1	10146	broad.mit.edu	37	5	151179493	151179493	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:151179493G>T	ENST00000394123.3	+	9	1032	c.887G>T	c.(886-888)aGa>aTa	p.R296I	G3BP1_ENST00000543466.1_Missense_Mutation_p.R114I|G3BP1_ENST00000356245.3_Missense_Mutation_p.R296I			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	296					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.R296I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCACCACAAAGACCTCAGCGG	0.438																																					p.R296I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G887T	5						.						48.0	50.0	49.0					5																	151179493		2203	4300	6503	151159686	SO:0001583	missense	10146	exon9			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.887G>T	5.37:g.151179493G>T	ENSP00000377681:p.Arg296Ile	Somatic		Capture	Illumina HiSeq	Phase_I	151159686	NM_005754	Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114466	0.94339	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.74947	-0.75;-0.89;-0.75	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	M	0.78049	2.395	0.80722	D	1	P	0.49961	0.93	P	0.48030	0.564	D	0.83414	0.0029	10	0.52906	T	0.07	-5.299	18.4052	0.90533	0.0:0.0:1.0:0.0	.	296	Q13283	G3BP1_HUMAN	I	296;114;296;138	ENSP00000377681:R296I;ENSP00000445035:R114I;ENSP00000348578:R296I	ENSP00000274596:R138I	R	+	2	0	G3BP1	151159686	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.720000	0.91442	2.415000	0.81967	0.650000	0.86243	AGA		0.438	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	
GRIA1	2890	broad.mit.edu	37	5	153026696	153026696	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:153026696G>T	ENST00000285900.5	+	3	772	c.429G>T	c.(427-429)caG>caT	p.Q143H	GRIA1_ENST00000521843.2_Missense_Mutation_p.Q74H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q153H|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q153H|GRIA1_ENST00000340592.5_Missense_Mutation_p.Q143H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	143					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.Q143H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACAAGTGGCAGAAATTTGTCT	0.493																																					p.Q143H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G429T	5						.						111.0	106.0	108.0					5																	153026696		2203	4300	6503	153006889	SO:0001583	missense	2890	exon3				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.429G>T	5.37:g.153026696G>T	ENSP00000285900:p.Gln143His	Somatic		Capture	Illumina HiSeq	Phase_I	153006889	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440577	0.43326	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.34	3.51	0.40186	Extracellular ligand-binding receptor (1);	0.204729	0.44097	D	0.000490	T	0.68403	0.2997	N	0.24115	0.695	0.40183	D	0.97731	P;P;P;B;B	0.38504	0.634;0.634;0.634;0.353;0.33	B;B;B;B;B	0.34346	0.18;0.18;0.18;0.053;0.165	T	0.70132	-0.4956	10	0.72032	D	0.01	.	7.2929	0.26376	0.2733:0.0:0.7267:0.0	.	153;153;153;143;143	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	143;143;97;143;74;74;153;153	ENSP00000285900:Q143H;ENSP00000339343:Q143H;ENSP00000427864:Q74H;ENSP00000442108:Q74H;ENSP00000428994:Q153H;ENSP00000415569:Q153H	ENSP00000285900:Q143H	Q	+	3	2	GRIA1	153006889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.127000	0.31357	1.211000	0.43351	0.655000	0.94253	CAG		0.493	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
MFAP3	4238	broad.mit.edu	37	5	153432717	153432717	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:153432717G>A	ENST00000436816.1	+	3	752	c.533G>A	c.(532-534)cGc>cAc	p.R178H	MFAP3_ENST00000322602.5_Missense_Mutation_p.R178H|MFAP3_ENST00000439768.2_Missense_Mutation_p.R32H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	178					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R178H(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCCATCTTCGCAAGACTGAG	0.438																																					p.R178H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G533A	5						.						80.0	73.0	75.0					5																	153432717		2203	4300	6503	153412910	SO:0001583	missense	4238	exon3				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.533G>A	5.37:g.153432717G>A	ENSP00000409933:p.Arg178His	Somatic		Capture	Illumina HiSeq	Phase_I	153412910	NM_005927	B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	37	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397751	0.83120	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.21734	1.99;1.99	5.52	5.52	0.82312	.	0.057796	0.64402	D	0.000002	T	0.42131	0.1189	L	0.50333	1.59	0.53005	D	0.99996	D	0.89917	1.0	D	0.68621	0.959	T	0.02797	-1.1109	9	.	.	.	-12.5091	19.8034	0.96518	0.0:0.0:1.0:0.0	.	178	P55082	MFAP3_HUMAN	H	32;178;178	ENSP00000409933:R178H;ENSP00000322956:R178H	.	R	+	2	0	MFAP3	153412910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.328000	0.72915	2.760000	0.94817	0.655000	0.94253	CGC		0.438	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927	
FAXDC2	10826	broad.mit.edu	37	5	154210386	154210386	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:154210386C>T	ENST00000326080.5	-	5	764	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	MIR378H_ENST00000579966.1_RNA|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000518651.1_Missense_Mutation_p.R91Q|FAXDC2_ENST00000520968.1_Intron|FAXDC2_ENST00000517938.1_Missense_Mutation_p.R91Q	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	114					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.R114Q(2)									GACCTGAATTCGGTAGCGAGA	0.468																																					p.R114Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G341A	5						.						117.0	114.0	115.0					5																	154210386		1963	4152	6115	154190579	SO:0001583	missense	10826	exon5			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.341G>A	5.37:g.154210386C>T	ENSP00000320604:p.Arg114Gln	Somatic		Capture	Illumina HiSeq	Phase_I	154190579	NM_032385	B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770349	0.90108	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501;ENST00000518651	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.80028	2.48	0.80722	D	1	P	0.38922	0.651	B	0.28232	0.087	T	0.65455	-0.6164	10	0.66056	D	0.02	.	18.2391	0.89960	0.0:1.0:0.0:0.0	.	114	Q96IV6	CE004_HUMAN	Q	114;91;91;91	ENSP00000320604:R114Q;ENSP00000430286:R91Q;ENSP00000429837:R91Q;ENSP00000429876:R91Q	ENSP00000320604:R114Q	R	-	2	0	C5orf4	154190579	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.048000	0.76606	2.405000	0.81733	0.655000	0.94253	CGA		0.468	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385	
EBF1	1879	broad.mit.edu	37	5	158500440	158500440	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:158500440C>T	ENST00000313708.6	-	6	800	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.R173Q|EBF1_ENST00000380654.4_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	173					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R173Q(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCTCATTTCGGTTGCCACA	0.418			T	HMGA2	lipoma																																p.R173Q			Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	5						.						194.0	185.0	188.0					5																	158500440		2203	4300	6503	158433018	SO:0001583	missense	1879	exon6			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.518G>A	5.37:g.158500440C>T	ENSP00000322898:p.Arg173Gln	Somatic		Capture	Illumina HiSeq	Phase_I	158433018	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355782	0.82243	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000517373	T;T	0.55930	0.49;0.56	5.44	5.44	0.79542	.	.	.	.	.	T	0.77452	0.4132	M	0.86420	2.815	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.72625	0.978;0.867;0.956	T	0.80616	-0.1303	9	0.66056	D	0.02	-2.2956	19.6211	0.95656	0.0:1.0:0.0:0.0	.	173;159;173	A8K0Z7;B4E2U8;Q9UH73	.;.;COE1_HUMAN	Q	173	ENSP00000322898:R173Q;ENSP00000428020:R173Q	ENSP00000322898:R173Q	R	-	2	0	EBF1	158433018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.706000	0.92434	0.650000	0.86243	CGA		0.418	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
FBXL7	23194	broad.mit.edu	37	5	15928508	15928508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:15928508G>A	ENST00000504595.1	+	3	1118	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FBXL7_ENST00000510662.1_Missense_Mutation_p.E166K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E201K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	213					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.E213K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GTGCTGCCCCGAACTGAGGCG	0.582																																					p.E213K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637A	5						.						71.0	71.0	71.0					5																	15928508		2061	4193	6254	15981508	SO:0001583	missense	23194	exon3			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.637G>A	5.37:g.15928508G>A	ENSP00000423630:p.Glu213Lys	Somatic		Capture	Illumina HiSeq	Phase_I	15981508	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097398	0.94197	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.50001	0.76;0.76;0.76	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	L	0.31664	0.95	0.80722	D	1	D	0.69078	0.997	P	0.55965	0.788	T	0.32666	-0.9898	10	0.12103	T	0.63	.	18.5969	0.91232	0.0:0.0:1.0:0.0	.	213	Q9UJT9	FBXL7_HUMAN	K	213;166;201	ENSP00000423630:E213K;ENSP00000425184:E166K;ENSP00000329632:E201K	ENSP00000329632:E201K	E	+	1	0	FBXL7	15981508	1.000000	0.71417	0.734000	0.30879	0.993000	0.82548	9.869000	0.99810	2.401000	0.81631	0.561000	0.74099	GAA		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
ADRA1B	147	broad.mit.edu	37	5	159344072	159344072	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:159344072G>A	ENST00000306675.3	+	1	283	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	54					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.A54T(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	GGTGCTGGGCGCCTTCATCCT	0.582																																					p.A54T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160A	5						.						100.0	99.0	99.0					5																	159344072		2203	4300	6503	159276650	SO:0001583	missense	147	exon1			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.160G>A	5.37:g.159344072G>A	ENSP00000306662:p.Ala54Thr	Somatic		Capture	Illumina HiSeq	Phase_I	159276650	NM_000679	B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373432	0.42105	.	.	ENSG00000170214	ENST00000306675	T	0.19806	2.12	5.08	3.28	0.37604	.	0.150941	0.64402	N	0.000014	T	0.10252	0.0251	N	0.24115	0.695	0.38574	D	0.950019	P	0.42973	0.796	B	0.28232	0.087	T	0.17501	-1.0367	10	0.40728	T	0.16	.	9.518	0.39117	0.0796:0.144:0.7764:0.0	.	54	P35368	ADA1B_HUMAN	T	54	ENSP00000306662:A54T	ENSP00000306662:A54T	A	+	1	0	ADRA1B	159276650	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.780000	0.62382	0.646000	0.30693	0.462000	0.41574	GCC		0.582	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1		
GABRG2	2566	broad.mit.edu	37	5	161524828	161524828	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:161524828G>T	ENST00000361925.4	+	4	732	c.512G>T	c.(511-513)aGa>aTa	p.R171I	GABRG2_ENST00000393933.4_Missense_Mutation_p.R76I|GABRG2_ENST00000414552.2_Missense_Mutation_p.R171I|GABRG2_ENST00000356592.3_Missense_Mutation_p.R171I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	171					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R171I(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGATGCTGAGAATTTGGAAT	0.408																																					p.R171I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512T	5						.						95.0	95.0	95.0					5																	161524828		2203	4300	6503	161457406	SO:0001583	missense	2566	exon4				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.512G>T	5.37:g.161524828G>T	ENSP00000354651:p.Arg171Ile	Somatic		Capture	Illumina HiSeq	Phase_I	161457406	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221402	0.95139	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.78314	0.991;0.987;0.977	D	0.91836	0.5479	10	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	171;171;171	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	I	171;171;171;76;76	ENSP00000349000:R171I;ENSP00000410732:R171I;ENSP00000354651:R171I;ENSP00000377510:R76I;ENSP00000430182:R76I	ENSP00000349000:R171I	R	+	2	0	GABRG2	161457406	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.690000	0.98676	2.756000	0.94617	0.563000	0.77884	AGA		0.408	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GABRG2	2566	broad.mit.edu	37	5	161576200	161576200	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:161576200C>A	ENST00000361925.4	+	8	1229	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I	GABRG2_ENST00000393933.4_Missense_Mutation_p.L242I|GABRG2_ENST00000414552.2_Missense_Mutation_p.L377I|GABRG2_ENST00000356592.3_Missense_Mutation_p.L337I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	337					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L337I(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCGATGGATCTCTTTGTATC	0.483																																					p.L337I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1009A	5						.						266.0	213.0	231.0					5																	161576200		2203	4300	6503	161508778	SO:0001583	missense	2566	exon8				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1009C>A	5.37:g.161576200C>A	ENSP00000354651:p.Leu337Ile	Somatic		Capture	Illumina HiSeq	Phase_I	161508778	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974571	0.92919	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.88	5.88	0.94601	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	N	0.17631	0.505	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.989;0.987	D;D;D	0.97110	1.0;0.976;0.96	D	0.86463	0.1780	10	0.34782	T	0.22	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	377;337;337	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	I	337;377;337;242	ENSP00000349000:L337I;ENSP00000410732:L377I;ENSP00000354651:L337I;ENSP00000377510:L242I	ENSP00000349000:L337I	L	+	1	0	GABRG2	161508778	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.882000	0.63121	2.779000	0.95612	0.650000	0.86243	CTC		0.483	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GABRG2	2566	broad.mit.edu	37	5	161578742	161578742	+	Intron	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:161578742C>T	ENST00000361925.4	+	9	1348				GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419W|GABRG2_ENST00000356592.3_Missense_Mutation_p.R379W			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R379W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAGCTTCTTCGGATGTTTTC	0.279																																					p.R379W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1135T	5						.						84.0	87.0	86.0					5																	161578742		2202	4297	6499	161511320	SO:0001627	intron_variant	2566	exon9				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1129-1357C>T	5.37:g.161578742C>T		Somatic		Capture	Illumina HiSeq	Phase_I	161511320	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158167	0.78114	.	.	ENSG00000113327	ENST00000356592;ENST00000414552	D;D	0.86627	-2.15;-2.15	5.84	4.98	0.66077	.	1.959290	0.02012	N	0.047077	D	0.87529	0.6200	N	0.22421	0.69	0.80722	D	1	P;D	0.69078	0.829;0.997	P;P	0.52856	0.599;0.711	T	0.74359	-0.3691	10	0.66056	D	0.02	.	11.2214	0.48857	0.0:0.8597:0.0:0.1403	.	419;379	F5HB82;P18507-2	.;.	W	379;419	ENSP00000349000:R379W;ENSP00000410732:R419W	ENSP00000349000:R379W	R	+	1	2	GABRG2	161511320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.319000	0.65835	1.474000	0.48178	0.650000	0.86243	CGG		0.279	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
FAM134B	54463	broad.mit.edu	37	5	16477807	16477807	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:16477807A>G	ENST00000306320.9	-	8	1050	c.964T>C	c.(964-966)Tca>Cca	p.S322P	FAM134B_ENST00000399793.2_Missense_Mutation_p.S181P	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	322					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S322P(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TATCCTTCTGAAAGGTTGAAG	0.408																																					p.S322P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T964C	5						.						89.0	83.0	85.0					5																	16477807		1835	4087	5922	16530807	SO:0001583	missense	54463	exon8			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.964T>C	5.37:g.16477807A>G	ENSP00000304642:p.Ser322Pro	Somatic		Capture	Illumina HiSeq	Phase_I	16530807	NM_001034850	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836325	0.91117	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.74526	-0.47;-0.85	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.87937	0.2714	10	0.72032	D	0.01	-11.8216	16.5494	0.84464	1.0:0.0:0.0:0.0	.	322;181	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	P	181;322	ENSP00000382691:S181P;ENSP00000304642:S322P	ENSP00000304642:S322P	S	-	1	0	FAM134B	16530807	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	8.637000	0.91014	2.299000	0.77371	0.528000	0.53228	TCA		0.408	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850	
HMMR	3161	broad.mit.edu	37	5	162894714	162894714	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:162894714C>A	ENST00000358715.3	+	4	266	c.230C>A	c.(229-231)tCt>tAt	p.S77Y	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Missense_Mutation_p.S78Y			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	77					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.S77Y(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CAGAAGGAATCTCAAAAGAAT	0.303																																					p.S77Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230A	5						.						43.0	44.0	44.0					5																	162894714		2203	4296	6499	162827292	SO:0001583	missense	3161	exon4			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.230C>A	5.37:g.162894714C>A	ENSP00000351554:p.Ser77Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	162827292	NM_012484	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976277	0.74360	.	.	ENSG00000072571	ENST00000393915;ENST00000426586;ENST00000358715	T;T	0.78924	-1.22;-1.22	5.98	5.98	0.97165	.	0.517384	0.21621	N	0.071645	T	0.79370	0.4434	M	0.63428	1.95	0.44295	D	0.997165	P;P	0.42620	0.492;0.785	B;B	0.44108	0.232;0.441	T	0.79933	-0.1594	10	0.52906	T	0.07	-3.8762	15.9521	0.79846	0.0:1.0:0.0:0.0	.	78;77	O75330-3;O75330	.;HMMR_HUMAN	Y	78;78;77	ENSP00000377492:S78Y;ENSP00000351554:S77Y	ENSP00000351554:S77Y	S	+	2	0	HMMR	162827292	0.889000	0.30405	1.000000	0.80357	0.987000	0.75469	1.313000	0.33585	2.838000	0.97847	0.591000	0.81541	TCT		0.303	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
TENM2	57451	broad.mit.edu	37	5	167553851	167553851	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:167553851C>T	ENST00000518659.1	+	12	2341	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TENM2_ENST00000519204.1_Missense_Mutation_p.R647C|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.R768C|TENM2_ENST00000520394.1_Missense_Mutation_p.R536C|TENM2_ENST00000403607.2_Missense_Mutation_p.R601C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	768					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R601C(1)									GTGTGACCAGCGCGTGTGCCA	0.602																																					p.R768C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2302T	5						.						44.0	50.0	48.0					5																	167553851		2039	4169	6208	167486429	SO:0001583	missense	57451	exon12			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2302C>T	5.37:g.167553851C>T	ENSP00000429430:p.Arg768Cys	Somatic		Capture	Illumina HiSeq	Phase_I	167486429	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.082127	0.76528	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98	5.5	5.5	0.81552	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	L	0.52573	1.65	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.977;0.95;0.995	T	0.00069	-1.2136	10	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	768;768;536	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	768;768;647;536;601	ENSP00000429430:R768C;ENSP00000438635:R768C;ENSP00000428964:R647C;ENSP00000427874:R536C;ENSP00000384905:R601C	ENSP00000384905:R601C	R	+	1	0	ODZ2	167486429	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.742000	0.55097	2.735000	0.93741	0.655000	0.94253	CGC		0.602	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
MYO10	4651	broad.mit.edu	37	5	16779680	16779680	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:16779680C>A	ENST00000513610.1	-	9	1358	c.904G>T	c.(904-906)Gac>Tac	p.D302Y		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	302	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.D302Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATTCCTGGTCACTGATTGTC	0.323																																					p.D302Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904T	5						.						99.0	91.0	94.0					5																	16779680		1821	4079	5900	16832680	SO:0001583	missense	4651	exon9			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.904G>T	5.37:g.16779680C>A	ENSP00000421280:p.Asp302Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	16832680	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735713	0.89482	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.94092	-3.35;-3.35	5.91	5.91	0.95273	Myosin head, motor domain (2);	.	.	.	.	D	0.97980	0.9335	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98411	1.0572	9	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	302	Q9HD67	MYO10_HUMAN	Y	302;313	ENSP00000421280:D302Y;ENSP00000421309:D313Y	ENSP00000421280:D302Y	D	-	1	0	MYO10	16832680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.203000	0.77864	2.813000	0.96785	0.655000	0.94253	GAC		0.323	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
TENM2	57451	broad.mit.edu	37	5	167674181	167674181	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:167674181C>A	ENST00000518659.1	+	27	6276	c.6237C>A	c.(6235-6237)ttC>ttA	p.F2079L	TENM2_ENST00000519204.1_Missense_Mutation_p.F1958L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2078L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1840L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1903L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2079					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.F1912L(1)									TCTACAGGTTCTCCGAGGAAG	0.542																																					p.F2070L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6210A	5						.						118.0	117.0	117.0					5																	167674181		2016	4184	6200	167606759	SO:0001583	missense	57451	exon27			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6237C>A	5.37:g.167674181C>A	ENSP00000429430:p.Phe2079Leu	Somatic		Capture	Illumina HiSeq	Phase_I	167606759	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	17.11	3.305576	0.60305	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.07;-2.06;-2.18;-2.51;-2.55	5.32	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.85859	2.78	0.48632	D	0.999684	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.90436	0.4428	10	0.20519	T	0.43	.	9.2418	0.37500	0.0:0.7511:0.0:0.2488	.	2078;2079;1840	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2079;2078;1958;1840;1903	ENSP00000429430:F2079L;ENSP00000438635:F2078L;ENSP00000428964:F1958L;ENSP00000427874:F1840L;ENSP00000384905:F1903L	ENSP00000384905:F1903L	F	+	3	2	ODZ2	167606759	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	2.164000	0.42387	0.537000	0.28751	0.561000	0.74099	TTC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
SPDL1	54908	broad.mit.edu	37	5	169026061	169026061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:169026061C>T	ENST00000265295.4	+	10	1501	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.R408*(1)									AGATATTGAGCGAAAACTTTT	0.343																																					p.R408X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1222T	5						.						51.0	54.0	53.0					5																	169026061		2203	4300	6503	168958639	SO:0001587	stop_gained	54908	exon10			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1222C>T	5.37:g.169026061C>T	ENSP00000265295:p.Arg408*	Somatic		Capture	Illumina HiSeq	Phase_I	168958639	NM_017785		Nonsense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	38	6.845870	0.97881	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	.	.	.	5.96	2.86	0.33363	.	0.052293	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3691	13.339	0.60535	0.2667:0.6425:0.0909:0.0	.	.	.	.	X	408;309	.	ENSP00000265295:R408X	R	+	1	2	CCDC99	168958639	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	1.775000	0.38584	0.818000	0.34468	0.655000	0.94253	CGA		0.343	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
DOCK2	1794	broad.mit.edu	37	5	169111325	169111325	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:169111325C>A	ENST00000256935.8	+	8	812	c.732C>A	c.(730-732)ctC>ctA	p.L244L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	244					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L244L(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATGTCTCTCTACGACCCCA	0.488																																					p.L244L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C732A	5						.						181.0	162.0	169.0					5																	169111325		2203	4300	6503	169043903	SO:0001819	synonymous_variant	1794	exon8			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.732C>A	5.37:g.169111325C>A		Somatic		Capture	Illumina HiSeq	Phase_I	169043903	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169127107	169127107	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:169127107G>A	ENST00000256935.8	+	13	1302	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	408					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A408T(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACCGTGGTGGCCAGGAAGCT	0.547																																					p.A408T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222A	5						.						151.0	139.0	143.0					5																	169127107		2203	4300	6503	169059685	SO:0001583	missense	1794	exon13			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1222G>A	5.37:g.169127107G>A	ENSP00000256935:p.Ala408Thr	Somatic		Capture	Illumina HiSeq	Phase_I	169059685	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814743	0.90790	.	.	ENSG00000134516	ENST00000256935	T	0.03717	3.83	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.37697	1.125	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.15867	-1.0422	10	0.02654	T	1	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	408	Q92608	DOCK2_HUMAN	T	408	ENSP00000256935:A408T	ENSP00000256935:A408T	A	+	1	0	DOCK2	169059685	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.574000	0.98184	2.884000	0.98904	0.655000	0.94253	GCC		0.547	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169129409	169129409	+	Missense_Mutation	SNP	C	C	T	rs374175915		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:169129409C>T	ENST00000256935.8	+	14	1441	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	DOCK2_ENST00000540750.1_5'Flank|DOCK2_ENST00000520908.1_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	454	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A454V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGTGTGCGCGGAGGATGGC	0.512											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A454V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1361T	5						.	C	VAL/ALA	0,4406		0,0,2203	189.0	142.0	158.0		1361	4.6	0.0	5		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK2	NM_004946.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	454/1831	169129409	1,13005	2203	4300	6503	169061987	SO:0001583	missense	1794	exon14			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1361C>T	5.37:g.169129409C>T	ENSP00000256935:p.Ala454Val	Somatic	1875	Capture	Illumina HiSeq	Phase_I	169061987	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663863	0.67700	0.0	1.16E-4	ENSG00000134516	ENST00000256935;ENST00000343291	T	0.14766	2.48	5.52	4.6	0.57074	.	0.155475	0.53938	D	0.000045	T	0.08447	0.0210	N	0.12182	0.205	0.80722	D	1	B	0.22080	0.064	B	0.18263	0.021	T	0.15065	-1.0450	10	0.52906	T	0.07	.	11.7302	0.51732	0.3469:0.6531:0.0:0.0	.	454	Q92608	DOCK2_HUMAN	V	454;5	ENSP00000256935:A454V	ENSP00000256935:A454V	A	+	2	0	DOCK2	169061987	0.998000	0.40836	0.012000	0.15200	0.907000	0.53573	6.681000	0.74523	2.595000	0.87683	0.655000	0.94253	GCG		0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169174416	169174416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:169174416G>T	ENST00000256935.8	+	23	2364	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E254*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	762					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.E762*(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGGCAAAGAACAGATGGA	0.363																																					p.E762X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2284T	5						.						80.0	77.0	78.0					5																	169174416		2203	4300	6503	169106994	SO:0001587	stop_gained	1794	exon23			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2284G>T	5.37:g.169174416G>T	ENSP00000256935:p.Glu762*	Somatic		Capture	Illumina HiSeq	Phase_I	169106994	NM_004946	Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	44	10.849575	0.99477	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	.	.	.	5.57	5.57	0.84162	.	0.098274	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	18.3118	0.90203	0.0:0.0:1.0:0.0	.	.	.	.	X	762;254	.	ENSP00000256935:E762X	E	+	1	0	DOCK2	169106994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.921000	0.87530	2.623000	0.88846	0.561000	0.74099	GAA		0.363	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
KCNIP1	30820	broad.mit.edu	37	5	170145872	170145872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:170145872C>T	ENST00000411494.1	+	3	205	c.205C>T	c.(205-207)Cga>Tga	p.R69*	KCNIP1_ENST00000377360.4_Nonsense_Mutation_p.R67*|KCNIP1_ENST00000328939.4_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000390656.4_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000434108.1_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000520740.1_Nonsense_Mutation_p.R30*			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	69	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.R69*(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCTTTATCGAGGCTTCAA	0.587																																					p.R67X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C199T	5						.						62.0	60.0	61.0					5																	170145872		2203	4300	6503	170078450	SO:0001587	stop_gained	30820	exon2			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.205C>T	5.37:g.170145872C>T	ENSP00000395323:p.Arg69*	Somatic		Capture	Illumina HiSeq	Phase_I	170078450	NM_001034838	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Nonsense_Mutation	SNP	ENST00000411494.1	37	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750325	0.89753	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	.	.	.	5.59	3.61	0.41365	.	0.048889	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8552	0.46794	0.5082:0.4918:0.0:0.0	.	.	.	.	X	67;58;58;30;58;69	.	.	R	+	1	2	KCNIP1	170078450	0.989000	0.36119	0.996000	0.52242	0.979000	0.70002	1.649000	0.37281	1.332000	0.45431	0.655000	0.94253	CGA		0.587	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1		
KCNIP1	30820	broad.mit.edu	37	5	170160885	170160885	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:170160885C>A	ENST00000411494.1	+	8	619	c.619C>A	c.(619-621)Ctt>Att	p.L207I	KCNIP1_ENST00000377360.4_Missense_Mutation_p.L205I|KCNIP1_ENST00000328939.4_Missense_Mutation_p.L196I|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L196I|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L221I|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L168I			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	207	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.L207I(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAATTTCTTGAATCATG	0.428																																					p.L205I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C613A	5						.						110.0	105.0	107.0					5																	170160885		2203	4300	6503	170093463	SO:0001583	missense	30820	exon7			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.619C>A	5.37:g.170160885C>A	ENSP00000395323:p.Leu207Ile	Somatic		Capture	Illumina HiSeq	Phase_I	170093463	NM_001034838	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	4.055	0.008020	0.07866	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.66	4.74	0.60224	EF-hand-like domain (1);	0.160099	0.53938	D	0.000059	T	0.45558	0.1348	N	0.01742	-0.745	0.40151	D	0.976945	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.15870	0.014;0.01;0.006;0.006	T	0.47005	-0.9150	9	.	.	.	.	10.9921	0.47555	0.2967:0.7033:0.0:0.0	.	221;196;207;205	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	I	205;196;196;168;221;207	ENSP00000366577:L205I;ENSP00000329686:L196I;ENSP00000375071:L196I;ENSP00000431102:L168I;ENSP00000414886:L221I;ENSP00000395323:L207I	.	L	+	1	0	KCNIP1	170093463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.030000	0.57260	2.668000	0.90789	0.650000	0.86243	CTT		0.428	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1		
FBXW11	23291	broad.mit.edu	37	5	171326969	171326969	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:171326969C>T	ENST00000265094.5	-	4	646	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000296933.6_Missense_Mutation_p.R157Q|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	170					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R170Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTACCATTCGTTCAATCAG	0.448																																					p.R136Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	5						.						220.0	211.0	214.0					5																	171326969		2203	4300	6503	171259574	SO:0001583	missense	23291	exon3			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.509G>A	5.37:g.171326969C>T	ENSP00000265094:p.Arg170Gln	Somatic		Capture	Illumina HiSeq	Phase_I	171259574	NM_033645	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017809	0.93404	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.94	4.94	0.65067	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	L	0.61036	1.89	0.80722	D	1	P;D;D;P	0.63046	0.612;0.991;0.992;0.743	B;P;P;B	0.59115	0.2;0.709;0.852;0.261	T	0.34576	-0.9823	10	0.45353	T	0.12	-7.3454	18.1307	0.89600	0.0:1.0:0.0:0.0	.	138;136;170;157	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	Q	157;170;136;138;191	ENSP00000296933:R157Q;ENSP00000265094:R170Q;ENSP00000377391:R136Q;ENSP00000444929:R138Q;ENSP00000428753:R191Q	ENSP00000265094:R170Q	R	-	2	0	FBXW11	171259574	0.997000	0.39634	0.957000	0.39632	0.984000	0.73092	7.771000	0.85420	2.441000	0.82636	0.462000	0.41574	CGA		0.448	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300	
STK10	6793	broad.mit.edu	37	5	171583642	171583642	+	Missense_Mutation	SNP	C	C	T	rs374056362		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:171583642C>T	ENST00000176763.5	-	2	650	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.D103N(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTTCCCGTCGTGATAGTAG	0.592																																					p.D103N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307A	5						.	C	ASN/ASP	0,4406		0,0,2203	119.0	88.0	99.0		307	3.8	0.0	5		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	STK10	NM_005990.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	103/969	171583642	1,13005	2203	4300	6503	171516247	SO:0001583	missense	6793	exon2			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.307G>A	5.37:g.171583642C>T	ENSP00000176763:p.Asp103Asn	Somatic		Capture	Illumina HiSeq	Phase_I	171516247	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434078	0.43224	0.0	1.16E-4	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.14022	2.54	5.53	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178220	0.48286	D	0.000194	T	0.11239	0.0274	N	0.04245	-0.25	0.44711	D	0.997706	P	0.44309	0.832	P	0.52598	0.703	T	0.26326	-1.0106	10	0.42905	T	0.14	.	10.2239	0.43214	0.0:0.8376:0.0:0.1624	.	103	O94804	STK10_HUMAN	N	103	ENSP00000176763:D103N	ENSP00000176763:D103N	D	-	1	0	STK10	171516247	1.000000	0.71417	0.022000	0.16811	0.527000	0.34593	6.053000	0.71089	0.699000	0.31761	-0.254000	0.11334	GAC		0.592	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
HMP19	51617	broad.mit.edu	37	5	173491293	173491293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:173491293G>A	ENST00000303177.3	+	3	450	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	NSG2_ENST00000521585.1_Missense_Mutation_p.R63Q|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		63					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R63Q(1)									GGGAAGTTCCGGGTGCCGAAA	0.478																																					p.R63Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	5						.						84.0	80.0	82.0					5																	173491293		2203	4300	6503	173423899	SO:0001583	missense	51617	exon3																														ENST00000303177.3:c.188G>A	5.37:g.173491293G>A	ENSP00000307722:p.Arg63Gln	Somatic		Capture	Illumina HiSeq	Phase_I	173423899	NM_015980	B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	ENST00000303177.3	37	CCDS4391.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616849	0.87359	.	.	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521585;ENST00000521278;ENST00000519717	.	.	.	5.69	5.69	0.88448	.	0.057755	0.64402	D	0.000003	T	0.77452	0.4132	L	0.59436	1.845	0.50813	D	0.999892	D	0.69078	0.997	D	0.70227	0.968	T	0.76873	-0.2798	9	0.59425	D	0.04	-18.8502	20.181	0.98201	0.0:0.0:1.0:0.0	.	63	Q9Y328	NSG2_HUMAN	Q	63	.	ENSP00000307722:R63Q	R	+	2	0	AC011333.1	173423899	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.754000	0.62191	2.840000	0.97914	0.655000	0.94253	CGG		0.478	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2		
DRD1	1812	broad.mit.edu	37	5	174869651	174869651	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:174869651G>T	ENST00000393752.2	-	2	1444	c.452C>A	c.(451-453)tCt>tAt	p.S151Y		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	151					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.S151Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GATGAGTACAGACAAGGTCCA	0.542																																					p.S151Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452A	5						.						141.0	141.0	141.0					5																	174869651		2203	4300	6503	174802257	SO:0001583	missense	1812	exon2			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.452C>A	5.37:g.174869651G>T	ENSP00000377353:p.Ser151Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	174802257	NM_000794	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773919	0.49786	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.47869	0.83	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81540	-0.0886	10	0.87932	D	0	.	18.8545	0.92246	0.0:0.0:1.0:0.0	.	151	P21728	DRD1_HUMAN	Y	151	ENSP00000377353:S151Y	ENSP00000327652:S151Y	S	-	2	0	DRD1	174802257	1.000000	0.71417	0.931000	0.37212	0.153000	0.21895	9.675000	0.98638	2.773000	0.95371	0.655000	0.94253	TCT		0.542	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794	
HIGD2A	192286	broad.mit.edu	37	5	175816439	175816439	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:175816439T>C	ENST00000274787.2	+	2	335	c.262T>C	c.(262-264)Ttc>Ctc	p.F88L	NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000389158.5_5'Flank|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000509257.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	88	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)		p.F88L(1)		large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CGCCCAGGGTTTCACGGTCGC	0.632																																					p.F88L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T262C	5						.						64.0	69.0	67.0					5																	175816439		2203	4300	6503	175749045	SO:0001583	missense	192286	exon2			BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"""HIG1 domain family, member 2A"""			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.262T>C	5.37:g.175816439T>C	ENSP00000274787:p.Phe88Leu	Somatic		Capture	Illumina HiSeq	Phase_I	175749045	NM_138820		Missense_Mutation	SNP	ENST00000274787.2	37	CCDS4401.1	.	.	.	.	.	.	.	.	.	.	T	31	5.093251	0.94149	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.89	4.73	0.59995	Hypoxia induced protein, domain (2);	0.086607	0.85682	N	0.000000	T	0.69904	0.3163	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.67665	-0.5612	9	0.33940	T	0.23	-2.3288	11.6619	0.51352	0.0:0.0688:0.0:0.9312	.	88	Q9BW72	HIG2A_HUMAN	L	88	.	ENSP00000274787:F88L	F	+	1	0	HIGD2A	175749045	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.926000	0.70070	1.064000	0.40671	0.533000	0.62120	TTC		0.632	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820	
HK3	3101	broad.mit.edu	37	5	176317730	176317730	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:176317730C>T	ENST00000292432.5	-	6	627	c.536G>A	c.(535-537)aGc>aAc	p.S179N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	179	Glucose-binding. {ECO:0000255}.|Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.S179N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAGGGTGCTCTGGAGGTA	0.592																																					p.S179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G536A	5						.						143.0	140.0	141.0					5																	176317730		2203	4300	6503	176250336	SO:0001630	splice_region_variant	3101	exon6				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.535-1G>A	5.37:g.176317730C>T		Somatic		Capture	Illumina HiSeq	Phase_I	176250336	NM_002115	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751585	0.69533	.	.	ENSG00000160883	ENST00000292432	D	0.99032	-5.35	4.41	4.41	0.53225	Hexokinase, N-terminal (1);	0.000000	0.64402	D	0.000004	D	0.98729	0.9573	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.99126	1.0851	10	0.87932	D	0	.	13.7143	0.62687	0.0:0.8445:0.1555:0.0	.	179	P52790	HXK3_HUMAN	N	179	ENSP00000292432:S179N	ENSP00000292432:S179N	S	-	2	0	HK3	176250336	0.832000	0.29368	1.000000	0.80357	0.937000	0.57800	1.415000	0.34748	2.300000	0.77407	0.561000	0.74099	AGC		0.592	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Missense_Mutation
RMND5B	64777	broad.mit.edu	37	5	177570682	177570682	+	Nonsense_Mutation	SNP	C	C	T	rs373987956		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:177570682C>T	ENST00000515098.1	+	7	832	c.481C>T	c.(481-483)Cga>Tga	p.R161*	RMND5B_ENST00000313386.4_Nonsense_Mutation_p.R161*|RMND5B_ENST00000542098.1_Nonsense_Mutation_p.R148*			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	161	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.R161*(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGTTGAATCGAATCCTGGA	0.532																																					p.R161X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C481T	5						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	109.0	110.0		481	4.2	1.0	5		110	0,8600		0,0,4300	no	stop-gained	RMND5B	NM_022762.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		161/394	177570682	1,13005	2203	4300	6503	177503288	SO:0001587	stop_gained	64777	exon6			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.481C>T	5.37:g.177570682C>T	ENSP00000420875:p.Arg161*	Somatic		Capture	Illumina HiSeq	Phase_I	177503288	NM_022762	Q1HE27|Q6UVY7|Q9H6F6	Nonsense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975614	0.92919	2.27E-4	0.0	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.15	4.15	0.48705	.	0.069610	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8553	11.8189	0.52226	0.0:1.0:0.0:0.0	.	.	.	.	X	161;161;148	.	ENSP00000320623:R161X	R	+	1	2	RMND5B	177503288	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	1.846000	0.39289	2.153000	0.67306	0.462000	0.41574	CGA		0.532	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762	
ZNF354B	117608	broad.mit.edu	37	5	178310586	178310586	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178310586G>A	ENST00000322434.3	+	5	1359	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G378E(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCACACTGGAGAGAAGCCT	0.408																																					p.G378E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1133A	5						.						55.0	58.0	57.0					5																	178310586		2201	4278	6479	178243192	SO:0001583	missense	117608	exon5			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1133G>A	5.37:g.178310586G>A	ENSP00000327143:p.Gly378Glu	Somatic		Capture	Illumina HiSeq	Phase_I	178243192	NM_058230	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385255	0.61956	.	.	ENSG00000178338	ENST00000322434	T	0.25749	1.78	3.51	3.51	0.40186	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39118	0.1066	L	0.39514	1.22	0.45502	D	0.998465	D	0.76494	0.999	D	0.68943	0.961	T	0.29458	-1.0011	9	0.87932	D	0	-1.7917	12.5651	0.56306	0.0:0.0:1.0:0.0	.	378	Q96LW1	Z354B_HUMAN	E	378	ENSP00000327143:G378E	ENSP00000327143:G378E	G	+	2	0	ZNF354B	178243192	0.998000	0.40836	0.972000	0.41901	0.838000	0.47535	2.430000	0.44766	1.789000	0.52484	0.555000	0.69702	GGA		0.408	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
ZNF454	285676	broad.mit.edu	37	5	178373479	178373479	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178373479C>A	ENST00000320129.3	+	3	456	c.153C>A	c.(151-153)gtC>gtA	p.V51V	ZNF454_ENST00000519564.1_Silent_p.V51V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V51V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCAACCTGGTCTCACTGGGTA	0.547																																					p.V51V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153A	5						.						80.0	80.0	80.0					5																	178373479		2203	4300	6503	178306085	SO:0001819	synonymous_variant	285676	exon3			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.153C>A	5.37:g.178373479C>A		Somatic		Capture	Illumina HiSeq	Phase_I	178306085	NM_182594	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1																																																																																				0.547	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
ZNF454	285676	broad.mit.edu	37	5	178392700	178392700	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178392700G>T	ENST00000320129.3	+	5	1598	c.1295G>T	c.(1294-1296)aGa>aTa	p.R432I	ZNF454_ENST00000519564.1_Missense_Mutation_p.R432I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R432I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CAACATCAGAGAATTCATACT	0.423																																					p.R432I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1295T	5						.						76.0	79.0	78.0					5																	178392700		2203	4300	6503	178325306	SO:0001583	missense	285676	exon5			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1295G>T	5.37:g.178392700G>T	ENSP00000326249:p.Arg432Ile	Somatic		Capture	Illumina HiSeq	Phase_I	178325306	NM_182594	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366653	0.41902	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.24908	1.83;1.83	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000409	T	0.43634	0.1256	L	0.50919	1.6	0.50813	D	0.999897	D	0.71674	0.998	D	0.71414	0.973	T	0.34750	-0.9816	10	0.59425	D	0.04	-23.9252	14.5222	0.67859	0.0:0.0:1.0:0.0	.	432	Q8N9F8	ZN454_HUMAN	I	432	ENSP00000326249:R432I;ENSP00000430354:R432I	ENSP00000326249:R432I	R	+	2	0	ZNF454	178325306	0.974000	0.33945	1.000000	0.80357	0.024000	0.10985	2.335000	0.43929	2.367000	0.80283	0.650000	0.86243	AGA		0.423	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
GRM6	2916	broad.mit.edu	37	5	178413537	178413537	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178413537G>T	ENST00000517717.1	-	9	1756	c.1718C>A	c.(1717-1719)cCc>cAc	p.P573H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P573H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	573					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.P573H(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACAGGTGTGGGGCGGCAGCC	0.706																																					p.P573H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1718A	5						.						19.0	20.0	19.0					5																	178413537		2198	4288	6486	178346143	SO:0001583	missense	2916	exon8			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1718C>A	5.37:g.178413537G>T	ENSP00000430767:p.Pro573His	Somatic		Capture	Illumina HiSeq	Phase_I	178346143	NM_000843		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246733	0.80024	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90324	-2.65;-2.65	4.97	4.1	0.47936	.	.	.	.	.	D	0.94820	0.8327	M	0.83953	2.67	0.48571	D	0.999672	D;B	0.89917	1.0;0.021	D;B	0.77557	0.99;0.03	D	0.94729	0.7908	9	0.62326	D	0.03	.	11.6375	0.51213	0.0885:0.0:0.9115:0.0	.	729;573	E7EX65;O15303	.;GRM6_HUMAN	H	729;573;573	ENSP00000231188:P573H;ENSP00000430767:P573H	ENSP00000231188:P573H	P	-	2	0	GRM6	178346143	1.000000	0.71417	0.929000	0.37066	0.923000	0.55619	9.661000	0.98601	1.218000	0.43458	0.462000	0.41574	CCC		0.706	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
GRM6	2916	broad.mit.edu	37	5	178418507	178418507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178418507C>A	ENST00000517717.1	-	4	813	c.775G>T	c.(775-777)Gag>Tag	p.E259*	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Nonsense_Mutation_p.E259*			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	259					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.E259*(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TTGCTGAACTCTCCTGGCTTT	0.577																																					p.E259X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G775T	5						.						206.0	202.0	204.0					5																	178418507		2203	4300	6503	178351113	SO:0001587	stop_gained	2916	exon3			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.775G>T	5.37:g.178418507C>A	ENSP00000430767:p.Glu259*	Somatic		Capture	Illumina HiSeq	Phase_I	178351113	NM_000843		Nonsense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770924	0.96914	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.35	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.3535	0.66719	0.0:0.8507:0.1493:0.0	.	.	.	.	X	286;259;259	.	ENSP00000231188:E259X	E	-	1	0	GRM6	178351113	1.000000	0.71417	0.965000	0.40720	0.300000	0.27592	4.754000	0.62191	1.413000	0.46997	-0.225000	0.12378	GAG		0.577	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ZNF354C	30832	broad.mit.edu	37	5	178505773	178505773	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178505773T>C	ENST00000315475.6	+	5	646	c.340T>C	c.(340-342)Tcc>Ccc	p.S114P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S114P(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AAAGAAAGAATCCATTAAGGA	0.373																																					p.S114P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T340C	5						.						81.0	84.0	83.0					5																	178505773		2203	4300	6503	178438379	SO:0001583	missense	30832	exon5				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.340T>C	5.37:g.178505773T>C	ENSP00000324064:p.Ser114Pro	Somatic		Capture	Illumina HiSeq	Phase_I	178438379	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743497	0.15642	.	.	ENSG00000177932	ENST00000315475	T	0.05447	3.44	4.09	-1.08	0.09936	.	.	.	.	.	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42916	-0.9423	9	0.34782	T	0.22	-2.9728	4.9748	0.14135	0.0:0.1899:0.3509:0.4592	.	114	Q86Y25	Z354C_HUMAN	P	114	ENSP00000324064:S114P	ENSP00000324064:S114P	S	+	1	0	ZNF354C	178438379	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.163000	0.09997	-0.290000	0.09025	0.482000	0.46254	TCC		0.373	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
ADAMTS2	9509	broad.mit.edu	37	5	178608083	178608083	+	Missense_Mutation	SNP	C	C	T	rs201702236	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:178608083C>T	ENST00000251582.7	-	5	1066	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S322N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	322	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S322N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTTCCATAGCTCAGGAGGAT	0.602													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17934	0.0		0.0	False		,,,				2504	0.0				p.S322N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	5						.	C	ASN/SER,ASN/SER	1,4405	2.1+/-5.4	0,1,2202	122.0	91.0	101.0		965,965	4.3	0.9	5	dbSNP_134	101	0,8600		0,0,4300	yes	missense,missense	ADAMTS2	NM_014244.4,NM_021599.2	46,46	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	322/1212,322/567	178608083	1,13005	2203	4300	6503	178540689	SO:0001583	missense	9509	exon5			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.965G>A	5.37:g.178608083C>T	ENSP00000251582:p.Ser322Asn	Somatic		Capture	Illumina HiSeq	Phase_I	178540689	NM_021599		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	11.50	1.656364	0.29425	2.27E-4	0.0	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.88124	-2.34;-2.34	4.31	4.31	0.51392	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.120744	0.37483	U	0.002062	T	0.74412	0.3713	N	0.25992	0.78	0.40441	D	0.980044	B;B	0.27068	0.11;0.167	B;B	0.26864	0.018;0.074	T	0.77040	-0.2735	10	0.44086	T	0.13	.	14.3249	0.66512	0.0:1.0:0.0:0.0	.	322;322	O95450-2;O95450	.;ATS2_HUMAN	N	322	ENSP00000251582:S322N;ENSP00000274609:S322N	ENSP00000251582:S322N	S	-	2	0	ADAMTS2	178540689	1.000000	0.71417	0.865000	0.33974	0.322000	0.28314	4.682000	0.61671	2.218000	0.71995	0.561000	0.74099	AGC		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
RNF130	55819	broad.mit.edu	37	5	179467610	179467610	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:179467610G>T	ENST00000261947.4	-	2	683	c.285C>A	c.(283-285)ttC>ttA	p.F95L	RNF130_ENST00000522208.2_Missense_Mutation_p.F95L|RNF130_ENST00000521389.1_Missense_Mutation_p.F95L	NM_001280801.1	NP_001267730.1			ring finger protein 130									p.F95L(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGACAAAGAACCGGGTTT	0.408																																					p.F95L	GBM(24;432 554 38471 39699 51728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C285A	5						.						71.0	71.0	71.0					5																	179467610		2203	4300	6503	179400216	SO:0001583	missense	55819	exon2			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.285C>A	5.37:g.179467610G>T	ENSP00000261947:p.Phe95Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179400216	NM_018434		Missense_Mutation	SNP	ENST00000261947.4	37		.	.	.	.	.	.	.	.	.	.	G	16.96	3.266679	0.59540	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.05139	3.49;3.5;3.53	5.63	4.76	0.60689	.	0.095787	0.64402	D	0.000001	T	0.17831	0.0428	M	0.72479	2.2	0.45762	D	0.998651	P;B	0.42409	0.779;0.116	P;B	0.53360	0.724;0.276	T	0.00199	-1.1928	10	0.72032	D	0.01	.	11.6366	0.51207	0.1427:0.0:0.8573:0.0	.	112;95	Q59EL1;Q86XS8	.;GOLI_HUMAN	L	95	ENSP00000429509:F95L;ENSP00000430237:F95L;ENSP00000261947:F95L	ENSP00000261947:F95L	F	-	3	2	RNF130	179400216	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	6.287000	0.72671	1.379000	0.46325	0.644000	0.83932	TTC		0.408	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434	
FLT4	2324	broad.mit.edu	37	5	180036041	180036041	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:180036041C>A	ENST00000261937.6	-	29	3898	c.3820G>T	c.(3820-3822)Gac>Tac	p.D1274Y	FLT4_ENST00000393347.3_Missense_Mutation_p.D1274Y|FLT4_ENST00000502649.1_Missense_Mutation_p.D1274Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1274					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D1274Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCCACTGTCTGTCTGGTTG	0.612																																					p.D1274Y	Colon(97;1075 1466 27033 27547 35871)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3820T	5						.						175.0	135.0	148.0					5																	180036041		2203	4300	6503	179968647	SO:0001583	missense	2324	exon29			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3820G>T	5.37:g.180036041C>A	ENSP00000261937:p.Asp1274Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179968647	NM_182925	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269664	0.80469	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;D;D	0.81739	-1.48;-1.53;-1.53	4.49	4.49	0.54785	.	.	.	.	.	D	0.90342	0.6978	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91945	0.5566	9	0.87932	D	0	.	17.7574	0.88453	0.0:1.0:0.0:0.0	.	1274;1274	E9PD35;P35916	.;VGFR3_HUMAN	Y	1274	ENSP00000261937:D1274Y;ENSP00000377016:D1274Y;ENSP00000426057:D1274Y	ENSP00000261937:D1274Y	D	-	1	0	FLT4	179968647	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	7.314000	0.78988	2.494000	0.84150	0.561000	0.74099	GAC		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
TRIM52	84851	broad.mit.edu	37	5	180687036	180687036	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:180687036A>G	ENST00000327767.4	-	1	1083	c.779T>C	c.(778-780)gTg>gCg	p.V260A	TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000506340.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	260					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V260A(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CAAAGGCAGCACGCTGTGCTG	0.532																																					p.V260A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T779C	5						.						158.0	146.0	150.0					5																	180687036		2203	4300	6503	180619642	SO:0001583	missense	84851	exon1				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.779T>C	5.37:g.180687036A>G	ENSP00000332152:p.Val260Ala	Somatic		Capture	Illumina HiSeq	Phase_I	180619642	NM_032765		Missense_Mutation	SNP	ENST00000327767.4	37	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	a	14.19	2.462300	0.43736	.	.	ENSG00000183718	ENST00000327767	T	0.51574	0.7	3.29	0.473	0.16763	Zinc finger, B-box (3);	.	.	.	.	T	0.60560	0.2278	M	0.75264	2.295	0.29034	N	0.885492	D	0.65815	0.995	D	0.66716	0.946	T	0.53330	-0.8454	9	0.66056	D	0.02	.	4.8364	0.13468	0.6222:0.1922:0.0:0.1856	.	260	Q96A61	TRI52_HUMAN	A	260	ENSP00000332152:V260A	ENSP00000332152:V260A	V	-	2	0	TRIM52	180619642	0.184000	0.23200	0.262000	0.24481	0.374000	0.29953	4.638000	0.61353	-0.010000	0.14271	0.418000	0.28097	GTG		0.532	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765	
C5orf55	116349	broad.mit.edu	37	5	442848	442848	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:442848C>T	ENST00000408966.2	-	1	410	c.90G>A	c.(88-90)ggG>ggA	p.G30G	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	30						extracellular region (GO:0005576)		p.G30G(1)		large_intestine(1)|lung(2)	3						TTACTGAATGCCCGGCGCCCA	0.587																																					p.G30G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G90A	5						.						87.0	100.0	96.0					5																	442848		1942	4148	6090	495848	SO:0001819	synonymous_variant	116349	exon1			BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.90G>A	5.37:g.442848C>T		Somatic		Capture	Illumina HiSeq	Phase_I	495848	NM_138464	Q96CR9	Silent	SNP	ENST00000408966.2	37	CCDS43298.1																																																																																				0.587	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464	
IRX1	79192	broad.mit.edu	37	5	3599401	3599401	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:3599401G>A	ENST00000302006.3	+	2	391	c.339G>A	c.(337-339)acG>acA	p.T113T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	113					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T113T(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCCCACACGGCGCCGGCTT	0.652																																					p.T113T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	5						.						39.0	44.0	42.0					5																	3599401		2203	4300	6503	3652401	SO:0001819	synonymous_variant	79192	exon2			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.339G>A	5.37:g.3599401G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3652401	NM_024337	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																				0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
IRX1	79192	broad.mit.edu	37	5	3599770	3599770	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:3599770C>T	ENST00000302006.3	+	2	760	c.708C>T	c.(706-708)caC>caT	p.H236H	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	236					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.H236H(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCGACGAGCACGATGGCGACC	0.662																																					p.H236H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C708T	5						.						60.0	56.0	58.0					5																	3599770		2203	4300	6503	3652770	SO:0001819	synonymous_variant	79192	exon2			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.708C>T	5.37:g.3599770C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3652770	NM_024337	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																				0.662	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
ADAMTS16	170690	broad.mit.edu	37	5	5191843	5191843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:5191843C>T	ENST00000274181.7	+	8	1391	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T418M	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	418	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T418M(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGCAGCTGCACGATTAATGAA	0.433																																					p.T418M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1253T	5						.						173.0	165.0	168.0					5																	5191843		1957	4161	6118	5244843	SO:0001583	missense	170690	exon8			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1253C>T	5.37:g.5191843C>T	ENSP00000274181:p.Thr418Met	Somatic		Capture	Illumina HiSeq	Phase_I	5244843	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442838	0.83993	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63744	-0.06;-0.06	4.74	4.74	0.60224	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.80243	0.4587	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83786	0.0228	10	0.87932	D	0	.	16.5194	0.84309	0.0:1.0:0.0:0.0	.	418;418;418	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	M	418	ENSP00000274181:T418M;ENSP00000421631:T418M	ENSP00000274181:T418M	T	+	2	0	ADAMTS16	5244843	1.000000	0.71417	0.333000	0.25482	0.971000	0.66376	7.324000	0.79115	2.186000	0.69663	0.655000	0.94253	ACG		0.433	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ADAMTS16	170690	broad.mit.edu	37	5	5242285	5242285	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:5242285C>T	ENST00000274181.7	+	17	2781	c.2643C>T	c.(2641-2643)tgC>tgT	p.C881C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	881	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C881C(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCTCTGAGTGCTCCGTGTCCT	0.622																																					p.C881C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2643T	5						.						44.0	49.0	47.0					5																	5242285		2107	4230	6337	5295285	SO:0001819	synonymous_variant	170690	exon17			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2643C>T	5.37:g.5242285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5295285	NM_139056	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																				0.622	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ADAMTS16	170690	broad.mit.edu	37	5	5262868	5262868	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:5262868C>T	ENST00000274181.7	+	18	2899	c.2761C>T	c.(2761-2763)Cct>Tct	p.P921S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	921	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P921S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGCTGGTGCCTTGCAAAGT	0.527																																					p.P921S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2761T	5						.						95.0	99.0	98.0					5																	5262868		2030	4174	6204	5315868	SO:0001583	missense	170690	exon18			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2761C>T	5.37:g.5262868C>T	ENSP00000274181:p.Pro921Ser	Somatic		Capture	Illumina HiSeq	Phase_I	5315868	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	1.578	-0.532295	0.04112	.	.	ENSG00000145536	ENST00000274181	T	0.62232	0.04	5.09	-8.28	0.01013	.	0.266786	0.36665	N	0.002461	T	0.34106	0.0886	L	0.39245	1.2	0.23221	N	0.998096	B;B	0.25351	0.124;0.016	B;B	0.17979	0.02;0.013	T	0.47983	-0.9074	10	0.08179	T	0.78	.	4.2533	0.10705	0.1809:0.594:0.0904:0.1348	.	921;921	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	921	ENSP00000274181:P921S	ENSP00000274181:P921S	P	+	1	0	ADAMTS16	5315868	0.593000	0.26840	0.008000	0.14137	0.395000	0.30598	0.070000	0.14573	-2.271000	0.00683	-0.367000	0.07326	CCT		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ADCY2	108	broad.mit.edu	37	5	7698384	7698384	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:7698384A>T	ENST00000338316.4	+	7	1095	c.1006A>T	c.(1006-1008)Att>Ttt	p.I336F	ADCY2_ENST00000537121.1_Missense_Mutation_p.I156F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	336					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I336F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAGAATTAAAATTTTAGGAGA	0.383																																					p.I336F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1006T	5						.						134.0	142.0	139.0					5																	7698384		2203	4300	6503	7751384	SO:0001583	missense	108	exon7			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1006A>T	5.37:g.7698384A>T	ENSP00000342952:p.Ile336Phe	Somatic		Capture	Illumina HiSeq	Phase_I	7751384	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	29.0	4.964932	0.92855	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81247	-1.47;-1.47	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	L	0.41356	1.27	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.83275	0.989;0.996	D	0.87456	0.2404	10	0.87932	D	0	.	16.1461	0.81569	1.0:0.0:0.0:0.0	.	156;336	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	336;187;156	ENSP00000342952:I336F;ENSP00000444803:I156F	ENSP00000342952:I336F	I	+	1	0	ADCY2	7751384	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.964000	0.93389	2.219000	0.72066	0.533000	0.62120	ATT		0.383	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
ADCY2	108	broad.mit.edu	37	5	7773192	7773192	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:7773192T>C	ENST00000338316.4	+	18	2451	c.2362T>C	c.(2362-2364)Tac>Cac	p.Y788H	ADCY2_ENST00000537121.1_Missense_Mutation_p.Y608H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	788					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.Y788H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTGGGCGACTACAGCCAGGT	0.517																																					p.Y788H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2362C	5						.						127.0	119.0	121.0					5																	7773192		2203	4300	6503	7826192	SO:0001583	missense	108	exon18			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2362T>C	5.37:g.7773192T>C	ENSP00000342952:p.Tyr788His	Somatic		Capture	Illumina HiSeq	Phase_I	7826192	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748919	0.49257	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82433	-1.16;-1.61	5.13	5.13	0.70059	.	0.204155	0.43747	D	0.000532	T	0.80177	0.4575	M	0.64997	1.995	0.51233	D	0.999916	B;B	0.17268	0.021;0.006	B;B	0.17722	0.019;0.013	T	0.75505	-0.3294	10	0.28530	T	0.3	.	13.209	0.59813	0.0:0.0:0.0:1.0	.	608;788	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	788;621;608	ENSP00000342952:Y788H;ENSP00000444803:Y608H	ENSP00000342952:Y788H	Y	+	1	0	ADCY2	7826192	1.000000	0.71417	0.967000	0.41034	0.928000	0.56348	7.126000	0.77201	1.948000	0.56530	0.383000	0.25322	TAC		0.517	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
FASTKD3	79072	broad.mit.edu	37	5	7867000	7867000	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:7867000T>G	ENST00000264669.5	-	2	1333	c.1197A>C	c.(1195-1197)caA>caC	p.Q399H	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	399					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.Q399H(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTTTTCTGTTTGGCAAACAA	0.413																																					p.Q399H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1197C	5						.						56.0	59.0	58.0					5																	7867000		2203	4300	6503	7920000	SO:0001583	missense	79072	exon2			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1197A>C	5.37:g.7867000T>G	ENSP00000264669:p.Gln399His	Somatic		Capture	Illumina HiSeq	Phase_I	7920000	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610012	0.28712	.	.	ENSG00000124279	ENST00000264669	T	0.15256	2.44	4.95	-6.76	0.01732	.	0.421507	0.27080	N	0.021029	T	0.13030	0.0316	M	0.70595	2.14	0.09310	N	0.999994	B	0.10296	0.003	B	0.08055	0.003	T	0.14035	-1.0487	10	0.42905	T	0.14	-8.0826	5.5442	0.17055	0.2461:0.5109:0.0856:0.1574	.	399	Q14CZ7	FAKD3_HUMAN	H	399	ENSP00000264669:Q399H	ENSP00000264669:Q399H	Q	-	3	2	FASTKD3	7920000	0.000000	0.05858	0.002000	0.10522	0.902000	0.53008	-2.905000	0.00702	-1.201000	0.02659	0.533000	0.62120	CAA		0.413	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
CDH18	1016	broad.mit.edu	37	5	19747181	19747181	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:19747181A>G	ENST00000507958.1	-	6	1383	c.393T>C	c.(391-393)atT>atC	p.I131I	CDH18_ENST00000502796.1_Silent_p.I131I|CDH18_ENST00000506372.1_Silent_p.I131I|CDH18_ENST00000274170.4_Silent_p.I131I|CDH18_ENST00000511273.1_Silent_p.I131I|CDH18_ENST00000382275.1_Silent_p.I131I			Q13634	CAD18_HUMAN	cadherin 18, type 2	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I131I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TACGTCTATCAATAGCTTGAG	0.423																																					p.I131I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T393C	5						.						247.0	221.0	230.0					5																	19747181		2203	4300	6503	19782938	SO:0001819	synonymous_variant	1016	exon4			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.393T>C	5.37:g.19747181A>G		Somatic		Capture	Illumina HiSeq	Phase_I	19782938	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH12	1010	broad.mit.edu	37	5	21802320	21802320	+	Silent	SNP	G	G	A	rs199520573		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:21802320G>A	ENST00000382254.1	-	10	2298	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.G364G|CDH12_ENST00000504376.2_Silent_p.G404G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	404	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G404G(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGTGACAGCGCCAATGATGG	0.458										HNSCC(59;0.17)																											p.G404G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	5						.						102.0	76.0	85.0					5																	21802320		2203	4300	6503	21838077	SO:0001819	synonymous_variant	1010	exon10			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1212C>T	5.37:g.21802320G>A		Somatic		Capture	Illumina HiSeq	Phase_I	21838077	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																				0.458	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH12	1010	broad.mit.edu	37	5	21817149	21817149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:21817149C>A	ENST00000382254.1	-	9	1993	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Nonsense_Mutation_p.E263*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.E303*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E303*(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTCAATTTCTGCATTTTGT	0.393										HNSCC(59;0.17)																											p.E303X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G907T	5						.						126.0	124.0	125.0					5																	21817149		2203	4300	6503	21852906	SO:0001587	stop_gained	1010	exon9			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.907G>T	5.37:g.21817149C>A	ENSP00000371689:p.Glu303*	Somatic		Capture	Illumina HiSeq	Phase_I	21852906	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.195760	0.99357	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	.	.	.	X	303;303;263	.	ENSP00000371689:E303X	E	-	1	0	CDH12	21852906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.314000	0.78988	2.435000	0.82474	0.585000	0.79938	GAA		0.393	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH10	1008	broad.mit.edu	37	5	24487890	24487890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:24487890G>T	ENST00000264463.4	-	12	2756	c.2249C>A	c.(2248-2250)tCa>tAa	p.S750*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	750					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S750*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATTCTAATGAACTCAGAGA	0.468										HNSCC(23;0.051)																											p.S750X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2249A	5						.						150.0	149.0	149.0					5																	24487890		2203	4300	6503	24523647	SO:0001587	stop_gained	1008	exon12			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2249C>A	5.37:g.24487890G>T	ENSP00000264463:p.Ser750*	Somatic		Capture	Illumina HiSeq	Phase_I	24523647	NM_006727	Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	44	10.709930	0.99454	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3088	0.94175	0.0:0.0:1.0:0.0	.	.	.	.	X	750	.	ENSP00000264463:S750X	S	-	2	0	CDH10	24523647	1.000000	0.71417	0.916000	0.36221	0.982000	0.71751	9.718000	0.98758	2.809000	0.96659	0.655000	0.94253	TCA		0.468	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24505320	24505320	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:24505320A>C	ENST00000264463.4	-	8	1801	c.1294T>G	c.(1294-1296)Ttt>Gtt	p.F432V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F432V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGAATGTTAAAGATTCTGTCA	0.368										HNSCC(23;0.051)																											p.F432V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1294G	5						.						99.0	95.0	96.0					5																	24505320		2203	4300	6503	24541077	SO:0001583	missense	1008	exon8			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1294T>G	5.37:g.24505320A>C	ENSP00000264463:p.Phe432Val	Somatic		Capture	Illumina HiSeq	Phase_I	24541077	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787637	0.90367	.	.	ENSG00000040731	ENST00000264463	D	0.83075	-1.68	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.049498	0.85682	D	0.000000	D	0.91314	0.7261	M	0.84683	2.71	0.52501	D	0.999956	D	0.61080	0.989	D	0.67103	0.949	D	0.92688	0.6164	10	0.87932	D	0	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	432	Q9Y6N8	CAD10_HUMAN	V	432	ENSP00000264463:F432V	ENSP00000264463:F432V	F	-	1	0	CDH10	24541077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.896000	0.92521	2.102000	0.63906	0.533000	0.62120	TTT		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24509693	24509693	+	Missense_Mutation	SNP	G	G	T	rs1395027	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:24509693G>T	ENST00000264463.4	-	7	1745	c.1238C>A	c.(1237-1239)tCt>tAt	p.S413Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> F (in dbSNP:rs1395027).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S413Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTGGAAATAGAATCTGGGTC	0.483										HNSCC(23;0.051)																											p.S413Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1238A	5						.						91.0	90.0	91.0					5																	24509693		2203	4300	6503	24545450	SO:0001583	missense	1008	exon7			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1238C>A	5.37:g.24509693G>T	ENSP00000264463:p.Ser413Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24545450	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145951	0.57044	.	.	ENSG00000040731	ENST00000264463	T	0.02709	4.19	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	0.112616	0.64402	D	0.000015	T	0.05547	0.0146	L	0.58810	1.83	0.41831	D	0.990076	B	0.26445	0.149	B	0.29785	0.107	T	0.44832	-0.9302	10	0.22706	T	0.39	.	17.961	0.89085	0.0:0.0:1.0:0.0	.	413	Q9Y6N8	CAD10_HUMAN	Y	413	ENSP00000264463:S413Y	ENSP00000264463:S413Y	S	-	2	0	CDH10	24545450	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	5.299000	0.65716	2.565000	0.86533	0.650000	0.86243	TCT		0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24535868	24535868	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:24535868C>T	ENST00000264463.4	-	4	1097	c.590G>A	c.(589-591)aGa>aAa	p.R197K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R197K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTAAATGACTCTGGCGCTGTT	0.443										HNSCC(23;0.051)																											p.R197K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	5						.						138.0	125.0	129.0					5																	24535868		2203	4300	6503	24571625	SO:0001583	missense	1008	exon4			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.590G>A	5.37:g.24535868C>T	ENSP00000264463:p.Arg197Lys	Somatic		Capture	Illumina HiSeq	Phase_I	24571625	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	8.747	0.920420	0.17982	.	.	ENSG00000040731	ENST00000264463	T	0.01705	4.68	6.17	5.31	0.75309	Cadherin (4);Cadherin-like (1);	0.045089	0.85682	D	0.000000	T	0.01661	0.0053	N	0.21282	0.65	0.32358	N	0.557572	B	0.20459	0.045	B	0.26202	0.067	T	0.30268	-0.9984	10	0.12766	T	0.61	.	10.923	0.47176	0.0:0.8584:0.0:0.1416	.	197	Q9Y6N8	CAD10_HUMAN	K	197	ENSP00000264463:R197K	ENSP00000264463:R197K	R	-	2	0	CDH10	24571625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.091000	0.50199	1.626000	0.50381	0.655000	0.94253	AGA		0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24537768	24537768	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:24537768C>A	ENST00000264463.4	-	3	754	c.247G>T	c.(247-249)Gat>Tat	p.D83Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	83	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D83Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTCCTTTATCTTGGTCTGAA	0.373										HNSCC(23;0.051)																											p.D83Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G247T	5						.						55.0	55.0	55.0					5																	24537768		2203	4300	6503	24573525	SO:0001583	missense	1008	exon3			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.247G>T	5.37:g.24537768C>A	ENSP00000264463:p.Asp83Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24573525	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310923	0.81358	.	.	ENSG00000040731	ENST00000264463	T	0.79653	-1.29	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	H	0.97940	4.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.95714	0.8760	10	0.87932	D	0	.	19.2219	0.93801	0.0:1.0:0.0:0.0	.	83	Q9Y6N8	CAD10_HUMAN	Y	83	ENSP00000264463:D83Y	ENSP00000264463:D83Y	D	-	1	0	CDH10	24573525	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.791000	0.96007	0.563000	0.77884	GAT		0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH9	1007	broad.mit.edu	37	5	26886136	26886136	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:26886136G>T	ENST00000231021.4	-	10	1741	c.1569C>A	c.(1567-1569)ttC>ttA	p.F523L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F523L(2)|p.F523F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTCAAAAAAGAATTTGTGAC	0.313																																					p.F523L	Melanoma(8;187 585 15745 40864 52829)											.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(2)|lung(1)	c.C1569A	5						.						76.0	86.0	83.0					5																	26886136		2202	4300	6502	26921893	SO:0001583	missense	1007	exon10			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1569C>A	5.37:g.26886136G>T	ENSP00000231021:p.Phe523Leu	Somatic		Capture	Illumina HiSeq	Phase_I	26921893	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483928	0.63962	.	.	ENSG00000113100	ENST00000231021	T	0.48201	0.82	5.76	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.048575	0.85682	N	0.000000	T	0.70369	0.3216	M	0.90759	3.145	0.45087	D	0.998106	D;D	0.76494	0.997;0.999	D;D	0.74674	0.974;0.984	T	0.72849	-0.4168	9	.	.	.	.	9.0368	0.36293	0.2483:0.0:0.7517:0.0	.	116;523	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	523	ENSP00000231021:F523L	.	F	-	3	2	CDH9	26921893	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.682000	0.37628	0.743000	0.32719	0.467000	0.42956	TTC		0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26988287	26988287	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:26988287T>C	ENST00000231021.4	-	2	326	c.154A>G	c.(154-156)Aag>Gag	p.K52E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	52					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K52E(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGCCACGCTTGGTGCGACGT	0.388																																					p.K52E	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A154G	5						.						118.0	113.0	114.0					5																	26988287		2203	4300	6503	27024044	SO:0001583	missense	1007	exon2			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.154A>G	5.37:g.26988287T>C	ENSP00000231021:p.Lys52Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27024044	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087542	0.94100	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00547	6.66;6.66;6.66	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.01523	0.0049	L	0.49126	1.545	0.49915	D	0.999838	D;D	0.71674	0.998;0.997	D;P	0.70935	0.971;0.887	T	0.77120	-0.2705	9	.	.	.	.	14.6681	0.68924	0.0:0.0:0.0:1.0	.	52;52	E7EPN0;Q9ULB4	.;CADH9_HUMAN	E	52	ENSP00000231021:K52E;ENSP00000426239:K52E;ENSP00000422538:K52E	.	K	-	1	0	CDH9	27024044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.656000	0.83736	2.142000	0.66516	0.482000	0.46254	AAG		0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH6	1004	broad.mit.edu	37	5	31297402	31297402	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:31297402T>G	ENST00000265071.2	+	4	795	c.530T>G	c.(529-531)tTt>tGt	p.F177C	CDH6_ENST00000514738.1_Missense_Mutation_p.F122C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F177C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACAGGTACATTTGTTGTCCAA	0.383																																					p.F177C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T530G	5						.						150.0	141.0	145.0					5																	31297402		2203	4300	6503	31333159	SO:0001583	missense	1004	exon4			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.530T>G	5.37:g.31297402T>G	ENSP00000265071:p.Phe177Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31333159	NM_004932	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778108	0.70107	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.52983	0.64;0.64	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.151282	0.64402	D	0.000011	T	0.68522	0.3010	M	0.76838	2.35	0.49687	D	0.999816	D;D	0.64830	0.994;0.979	D;P	0.65573	0.936;0.782	T	0.72760	-0.4196	10	0.66056	D	0.02	.	15.868	0.79080	0.0:0.0:0.0:1.0	.	177;177	P55285;P55285-2	CADH6_HUMAN;.	C	122;177	ENSP00000424843:F122C;ENSP00000265071:F177C	ENSP00000265071:F177C	F	+	2	0	CDH6	31333159	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.250000	0.51445	2.220000	0.72140	0.533000	0.62120	TTT		0.383	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
DROSHA	29102	broad.mit.edu	37	5	31472304	31472304	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:31472304G>T	ENST00000511367.2	-	16	2351	c.2107C>A	c.(2107-2109)Ctc>Atc	p.L703I	DROSHA_ENST00000513349.1_Missense_Mutation_p.L666I|DROSHA_ENST00000344624.3_Missense_Mutation_p.L703I|DROSHA_ENST00000442743.1_Missense_Mutation_p.L666I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	703	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.L703I(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAGTACAGGAGAATCTGGTGC	0.493																																					p.L703I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2107A	5						.						106.0	104.0	104.0					5																	31472304		1996	4164	6160	31508061	SO:0001583	missense	29102	exon16			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2107C>A	5.37:g.31472304G>T	ENSP00000425979:p.Leu703Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31508061	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059248	0.76074	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.64803	0.52;0.52;-0.12;-0.12	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.75020	0.985;0.957	T	0.81019	-0.1122	10	0.87932	D	0	-22.3369	13.0568	0.58984	0.0739:0.0:0.9261:0.0	.	666;703	E7EMP9;Q9NRR4	.;RNC_HUMAN	I	703;703;666;666;628;659	ENSP00000425979:L703I;ENSP00000339845:L703I;ENSP00000409335:L666I;ENSP00000424161:L666I	ENSP00000265075:L628I	L	-	1	0	DROSHA	31508061	1.000000	0.71417	0.810000	0.32431	0.745000	0.42441	7.520000	0.81821	2.746000	0.94184	0.655000	0.94253	CTC		0.493	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
DROSHA	29102	broad.mit.edu	37	5	31504713	31504713	+	Silent	SNP	G	G	A	rs372996287		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:31504713G>A	ENST00000511367.2	-	10	1861	c.1617C>T	c.(1615-1617)agC>agT	p.S539S	DROSHA_ENST00000513349.1_Silent_p.S502S|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000344624.3_Silent_p.S539S|DROSHA_ENST00000442743.1_Silent_p.S502S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	539	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.S539S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTGCCTTTGCGCTGCATTTGC	0.438																																					p.S539S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1617T	5						.	G	,	1,3975		0,1,1987	160.0	150.0	153.0		1506,1617	1.3	1.0	5		153	1,8357		0,1,4178	no	coding-synonymous,coding-synonymous	DROSHA	NM_001100412.1,NM_013235.4	,	0,2,6165	AA,AG,GG		0.012,0.0252,0.0162	,	502/1338,539/1375	31504713	2,12332	1988	4179	6167	31540470	SO:0001819	synonymous_variant	29102	exon10			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1617C>T	5.37:g.31504713G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31540470	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188804	0.21954	2.52E-4	1.2E-4	ENSG00000113360	ENST00000512076	.	.	.	5.11	1.31	0.21738	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49103	-0.8974	4	.	.	.	-19.5487	8.6213	0.33861	0.5089:0.0:0.4911:0.0	.	.	.	.	C	301	.	.	R	-	1	0	DROSHA	31540470	0.836000	0.29430	0.999000	0.59377	0.978000	0.69477	-0.047000	0.11963	0.397000	0.25310	0.563000	0.77884	CGC		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	32088608	32088608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:32088608C>A	ENST00000438447.1	+	20	5442	c.5054C>A	c.(5053-5055)tCa>tAa	p.S1685*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S1685*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1685					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S1685*(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATAAGCACTTCACAGAACCAC	0.517																																					p.S1685X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5054A	5						.						86.0	84.0	85.0					5																	32088608		2203	4300	6503	32124365	SO:0001587	stop_gained	23037	exon19			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5054C>A	5.37:g.32088608C>A	ENSP00000402033:p.Ser1685*	Somatic		Capture	Illumina HiSeq	Phase_I	32124365	NM_178140	Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	45	12.001588	0.99626	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.54	2.76	0.32466	.	0.876381	0.09821	N	0.751511	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5344	0.27702	0.0:0.7485:0.0:0.2515	.	.	.	.	X	1685;1486;1685	.	ENSP00000282493:S1685X	S	+	2	0	PDZD2	32124365	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	0.327000	0.19663	1.336000	0.45506	0.655000	0.94253	TCA		0.517	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
ZFR	51663	broad.mit.edu	37	5	32403338	32403338	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:32403338C>T	ENST00000265069.8	-	8	1491	c.1389G>A	c.(1387-1389)acG>acA	p.T463T		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	463					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T463T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCATTGAAGACGTTGCAACTG	0.423																																					p.T463T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1389A	5						.						222.0	200.0	208.0					5																	32403338		2203	4300	6503	32439095	SO:0001819	synonymous_variant	51663	exon8			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1389G>A	5.37:g.32403338C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32439095	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	CCDS34139.1																																																																																				0.423	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
SUB1	10923	broad.mit.edu	37	5	32591716	32591716	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:32591716A>T	ENST00000265073.4	+	3	248	c.120A>T	c.(118-120)caA>caT	p.Q40H	SUB1_ENST00000512913.1_Missense_Mutation_p.Q40H|SUB1_ENST00000515355.1_Missense_Mutation_p.Q40H|SUB1_ENST00000502897.1_Missense_Mutation_p.Q40H|SUB1_ENST00000504789.1_3'UTR	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	40	Lys-rich.|Regulatory.				regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)	p.Q40H(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAAAGAAACAAAAGACAGGTG	0.353																																					p.Q40H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A120T	5						.						62.0	67.0	65.0					5																	32591716		2203	4300	6503	32627473	SO:0001583	missense	10923	exon3			X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.120A>T	5.37:g.32591716A>T	ENSP00000265073:p.Gln40His	Somatic		Capture	Illumina HiSeq	Phase_I	32627473	NM_006713	Q96L29	Missense_Mutation	SNP	ENST00000265073.4	37	CCDS3897.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518122	0.64634	.	.	ENSG00000113387	ENST00000506237;ENST00000512913;ENST00000265073;ENST00000542111;ENST00000515355;ENST00000502897;ENST00000510442	T;T;T;T;T;T	0.55588	0.83;0.83;0.83;0.83;0.83;0.51	5.59	0.33	0.15929	Transcriptional coactivator p15 (1);	0.054100	0.85682	D	0.000000	T	0.65481	0.2695	M	0.75447	2.3	0.50467	D	0.999874	D	0.67145	0.996	D	0.64042	0.921	T	0.63545	-0.6613	10	0.42905	T	0.14	.	11.6653	0.51370	0.5238:0.0:0.4762:0.0	.	40	P53999	TCP4_HUMAN	H	40	ENSP00000422078:Q40H;ENSP00000422806:Q40H;ENSP00000265073:Q40H;ENSP00000426850:Q40H;ENSP00000427100:Q40H;ENSP00000423893:Q40H	ENSP00000265073:Q40H	Q	+	3	2	SUB1	32627473	0.984000	0.35163	0.996000	0.52242	0.950000	0.60333	0.347000	0.20014	-0.159000	0.11021	0.455000	0.32223	CAA		0.353	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253730.1	NM_006713	
RXFP3	51289	broad.mit.edu	37	5	33937316	33937316	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:33937316C>T	ENST00000330120.3	+	1	826	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	157					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.I157I(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGTGTAAGATCGTGTCCATGG	0.572																																					p.I157I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	5						.						128.0	114.0	119.0					5																	33937316		2203	4300	6503	33973073	SO:0001819	synonymous_variant	51289	exon1			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.471C>T	5.37:g.33937316C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33973073	NM_016568	Q14DA5	Silent	SNP	ENST00000330120.3	37	CCDS3900.1																																																																																				0.572	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568	
RAI14	26064	broad.mit.edu	37	5	34824362	34824362	+	Silent	SNP	G	G	A	rs141530324		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:34824362G>A	ENST00000265109.3	+	15	2702	c.2415G>A	c.(2413-2415)tcG>tcA	p.S805S	RAI14_ENST00000503673.1_Silent_p.S805S|RAI14_ENST00000428746.2_Silent_p.S805S|RAI14_ENST00000515799.1_Silent_p.S808S|RAI14_ENST00000397449.1_Silent_p.S798S|RAI14_ENST00000506376.1_Silent_p.S797S|RAI14_ENST00000512629.1_Silent_p.S776S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	805						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S805S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGTTGGCATCGAAATTAAAGG	0.408																																					p.S776S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2328A	5						.	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	127.0	131.0	130.0		2415,2415,2328,2391,2424,2415	-11.0	0.0	5	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	805/981,805/981,776/952,797/973,808/984,805/981	34824362	1,13005	2203	4300	6503	34860119	SO:0001819	synonymous_variant	26064	exon14			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2415G>A	5.37:g.34824362G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34860119	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.408	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
AGXT2	64902	broad.mit.edu	37	5	35039605	35039605	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:35039605G>T	ENST00000231420.6	-	3	386	c.186C>A	c.(184-186)ggC>ggA	p.G62G		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	62					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.G62G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CACGGTTGTAGCCAAGGGACT	0.483																																					p.G62G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186A	5						.						67.0	69.0	68.0					5																	35039605		2203	4300	6503	35075362	SO:0001819	synonymous_variant	64902	exon3			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.186C>A	5.37:g.35039605G>T		Somatic		Capture	Illumina HiSeq	Phase_I	35075362	NM_031900	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	CCDS3908.1																																																																																				0.483	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	
SPEF2	79925	broad.mit.edu	37	5	35705846	35705846	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:35705846G>T	ENST00000356031.3	+	18	2755	c.2601G>T	c.(2599-2601)aaG>aaT	p.K867N	SPEF2_ENST00000440995.2_Missense_Mutation_p.K862N|SPEF2_ENST00000509059.1_Missense_Mutation_p.K862N|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	867					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K867N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATAGATAAGGAATCTTTAT	0.289																																					p.K867N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2601T	5						.						39.0	34.0	36.0					5																	35705846		1783	4051	5834	35741603	SO:0001583	missense	79925	exon18			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2601G>T	5.37:g.35705846G>T	ENSP00000348314:p.Lys867Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35741603	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	7.628	0.678214	0.14841	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.77	4.62	0.57501	.	0.361408	0.31697	N	0.007214	T	0.23846	0.0577	L	0.59436	1.845	0.18873	N	0.999987	P;P;P	0.41848	0.651;0.763;0.501	B;B;B	0.33620	0.157;0.167;0.109	T	0.19679	-1.0298	10	0.32370	T	0.25	.	7.0186	0.24902	0.8201:0.0:0.1799:0.0	.	862;862;867	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	N	867;862;862;373	ENSP00000348314:K867N;ENSP00000421593:K862N;ENSP00000412125:K862N;ENSP00000421744:K373N	ENSP00000348314:K867N	K	+	3	2	SPEF2	35741603	0.001000	0.12720	0.057000	0.19452	0.188000	0.23474	0.080000	0.14802	1.019000	0.39547	-0.312000	0.09012	AAG		0.289	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
SPEF2	79925	broad.mit.edu	37	5	35793307	35793307	+	Missense_Mutation	SNP	A	A	G	rs201499381		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:35793307A>G	ENST00000356031.3	+	32	4755	c.4601A>G	c.(4600-4602)gAc>gGc	p.D1534G	SPEF2_ENST00000303129.4_Missense_Mutation_p.D331G|SPEF2_ENST00000440995.2_Missense_Mutation_p.D1529G|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1534					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.D1534G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGTTCGTGGACTGGCGGAAG	0.433																																					p.D1534G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4601G	5						.						102.0	96.0	98.0					5																	35793307		1899	4115	6014	35829064	SO:0001583	missense	79925	exon32			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4601A>G	5.37:g.35793307A>G	ENSP00000348314:p.Asp1534Gly	Somatic		Capture	Illumina HiSeq	Phase_I	35829064	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812072	0.70797	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.71222	-0.55;-0.55;-0.2	5.88	5.88	0.94601	.	0.050709	0.85682	D	0.000000	T	0.81669	0.4871	L	0.59436	1.845	0.45502	D	0.998469	D;D;D	0.89917	0.998;1.0;0.991	D;D;P	0.72982	0.97;0.979;0.838	T	0.83062	-0.0147	10	0.66056	D	0.02	.	15.9407	0.79750	1.0:0.0:0.0:0.0	.	331;1529;1534	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	G	1534;1529;331	ENSP00000348314:D1534G;ENSP00000412125:D1529G;ENSP00000303843:D331G	ENSP00000303843:D331G	D	+	2	0	SPEF2	35829064	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	6.456000	0.73501	2.243000	0.73865	0.533000	0.62120	GAC		0.433	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
UGT3A2	167127	broad.mit.edu	37	5	36049155	36049155	+	Nonsense_Mutation	SNP	C	C	A	rs149119039		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:36049155C>A	ENST00000282507.3	-	4	780	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.E193*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	227					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.E227*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGAAATGTTCCTTGATGGTG	0.438																																					p.E193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G577T	5						.						153.0	153.0	153.0					5																	36049155		2203	4300	6503	36084912	SO:0001587	stop_gained	167127	exon3				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.679G>T	5.37:g.36049155C>A	ENSP00000282507:p.Glu227*	Somatic		Capture	Illumina HiSeq	Phase_I	36084912	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Nonsense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633159	0.47049	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	.	.	.	3.45	3.45	0.39498	.	0.168382	0.39475	N	0.001355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.8735	0.70478	0.0:1.0:0.0:0.0	.	.	.	.	X	227;193	.	ENSP00000282507:E227X	E	-	1	0	UGT3A2	36084912	0.654000	0.27367	0.987000	0.45799	0.327000	0.28475	0.351000	0.20096	2.242000	0.73789	0.655000	0.94253	GAA		0.438	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
UGT3A2	167127	broad.mit.edu	37	5	36049228	36049228	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:36049228C>A	ENST00000282507.3	-	4	707	c.606G>T	c.(604-606)aaG>aaT	p.K202N	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.K168N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	202					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.K202N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGAAAATTCTTCACTCGGC	0.463																																					p.K168N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G504T	5						.						97.0	99.0	98.0					5																	36049228		2203	4300	6503	36084985	SO:0001583	missense	167127	exon3				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.606G>T	5.37:g.36049228C>A	ENSP00000282507:p.Lys202Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36084985	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539520	0.45176	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61274	0.12;0.12	3.52	3.52	0.40303	.	0.151699	0.41605	D	0.000850	T	0.72220	0.3433	M	0.87617	2.895	0.80722	D	1	P;D	0.63880	0.91;0.993	P;D	0.65140	0.821;0.932	T	0.74662	-0.3590	10	0.66056	D	0.02	.	5.4724	0.16678	0.0:0.7768:0.0:0.2232	.	168;202	E9PFK7;Q3SY77	.;UD3A2_HUMAN	N	202;168	ENSP00000282507:K202N;ENSP00000427404:K168N	ENSP00000282507:K202N	K	-	3	2	UGT3A2	36084985	0.997000	0.39634	0.824000	0.32777	0.523000	0.34469	0.880000	0.28159	2.278000	0.76064	0.655000	0.94253	AAG		0.463	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
NUP155	9631	broad.mit.edu	37	5	37326004	37326004	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:37326004G>A	ENST00000231498.3	-	19	2293	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V	NUP155_ENST00000381843.2_Splice_Site_p.A638V|RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000513532.1_Splice_Site_p.A697V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	697					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A697V(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACTTACTGCAGTGATCTC	0.318																																					p.A697V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2090T	5						.						124.0	131.0	128.0					5																	37326004		2203	4300	6503	37361761	SO:0001630	splice_region_variant	9631	exon19			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2091+1C>T	5.37:g.37326004G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37361761	NM_153485	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586181	0.46110	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75821	-0.97;-0.97;-0.95	5.43	5.43	0.79202	.	0.154914	0.64402	D	0.000019	T	0.56558	0.1993	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.53732	-0.8397	10	0.12430	T	0.62	-2.9459	19.241	0.93883	0.0:0.0:1.0:0.0	.	697;697	E9PF10;O75694	.;NU155_HUMAN	V	697;638;659;697	ENSP00000231498:A697V;ENSP00000371265:A638V;ENSP00000422019:A697V	ENSP00000231498:A697V	A	-	2	0	NUP155	37361761	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.960000	0.70348	2.546000	0.85860	0.650000	0.86243	GCA		0.318	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298	Missense_Mutation
NUP155	9631	broad.mit.edu	37	5	37351391	37351391	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:37351391A>G	ENST00000231498.3	-	6	827	c.624T>C	c.(622-624)ctT>ctC	p.L208L	NUP155_ENST00000381843.2_Silent_p.L149L|NUP155_ENST00000513532.1_Silent_p.L208L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	208					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.L208L(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATCAGTAGGAAGAGAATATA	0.348																																					p.L208L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T624C	5						.						80.0	80.0	80.0					5																	37351391		2203	4298	6501	37387148	SO:0001819	synonymous_variant	9631	exon6			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.624T>C	5.37:g.37351391A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37387148	NM_153485	Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	CCDS3921.1																																																																																				0.348	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298	
EGFLAM	133584	broad.mit.edu	37	5	38407973	38407973	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:38407973C>A	ENST00000354891.3	+	9	1560	c.1214C>A	c.(1213-1215)tCt>tAt	p.S405Y	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S405Y|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S171Y	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	405	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S405Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGAAGAATTCTTATCAGGCA	0.363																																					p.S171Y	Colon(62;485 1295 3347 17454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512A	5						.						148.0	140.0	143.0					5																	38407973		2203	4300	6503	38443730	SO:0001583	missense	133584	exon4			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1214C>A	5.37:g.38407973C>A	ENSP00000346964:p.Ser405Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	38443730	NM_182798	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541823	0.85917	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79653	-1.29;-1.29;-1.29	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.90501	0.7024	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.80764	0.994;0.986;0.984	D	0.91307	0.5071	10	0.87932	D	0	-6.325	19.4679	0.94950	0.0:1.0:0.0:0.0	.	171;405;405	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Y	405;405;171;171	ENSP00000346964:S405Y;ENSP00000313084:S405Y;ENSP00000337607:S171Y	ENSP00000313084:S405Y	S	+	2	0	EGFLAM	38443730	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.265000	0.78442	2.611000	0.88343	0.650000	0.86243	TCT		0.363	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
EGFLAM	133584	broad.mit.edu	37	5	38425121	38425121	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:38425121C>A	ENST00000354891.3	+	13	2083	c.1737C>A	c.(1735-1737)acC>acA	p.T579T	EGFLAM_ENST00000322350.5_Silent_p.T579T|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Silent_p.T345T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	579	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.T579T(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGGTGGCACCTGCACAGCAA	0.498																																					p.T345T	Colon(62;485 1295 3347 17454)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1035A	5						.						176.0	163.0	168.0					5																	38425121		2203	4300	6503	38460878	SO:0001819	synonymous_variant	133584	exon8			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1737C>A	5.37:g.38425121C>A		Somatic		Capture	Illumina HiSeq	Phase_I	38460878	NM_182798	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	De_novo_Start_OutOfFrame	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																				0.498	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
LIFR	3977	broad.mit.edu	37	5	38504182	38504182	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:38504182T>G	ENST00000263409.4	-	10	1495	c.1333A>C	c.(1333-1335)Aat>Cat	p.N445H	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.N445H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	445	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.N445H(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCTGTTGAATTAATATCCTTC	0.269			T	PLAG1	salivary adenoma																																p.N445H	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1333C	5						.						54.0	60.0	58.0					5																	38504182		2201	4294	6495	38539939	SO:0001583	missense	3977	exon10			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1333A>C	5.37:g.38504182T>G	ENSP00000263409:p.Asn445His	Somatic		Capture	Illumina HiSeq	Phase_I	38539939	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.790755	0.70452	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.59083	0.29;0.29	5.65	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.312769	0.35096	N	0.003460	T	0.67069	0.2854	M	0.69823	2.125	0.30133	N	0.804642	D	0.63880	0.993	P	0.58780	0.845	T	0.66748	-0.5845	10	0.62326	D	0.03	-29.9343	9.5961	0.39576	0.0:0.1294:0.0:0.8706	.	445	P42702	LIFR_HUMAN	H	445	ENSP00000263409:N445H;ENSP00000398368:N445H	ENSP00000263409:N445H	N	-	1	0	LIFR	38539939	0.995000	0.38212	0.951000	0.38953	0.997000	0.91878	2.405000	0.44548	2.139000	0.66308	0.528000	0.53228	AAT		0.269	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
FYB	2533	broad.mit.edu	37	5	39202426	39202426	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:39202426C>T	ENST00000351578.6	-	2	827	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FYB_ENST00000540520.1_Missense_Mutation_p.E223K|FYB_ENST00000515010.1_Missense_Mutation_p.E213K|FYB_ENST00000505428.1_Missense_Mutation_p.E213K|FYB_ENST00000512982.1_Missense_Mutation_p.E213K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	213					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.E213K(2)|p.E223K(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATGGGGCTTTCGTCTTCATGG	0.527																																					p.E213K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G637A	5						.						64.0	64.0	64.0					5																	39202426		1846	4079	5925	39238183	SO:0001583	missense	2533	exon2			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.637G>A	5.37:g.39202426C>T	ENSP00000316460:p.Glu213Lys	Somatic		Capture	Illumina HiSeq	Phase_I	39238183	NM_199335	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956142	0.18507	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.29142	1.58;1.58;1.59;1.59;1.58	6.07	4.18	0.49190	.	0.506869	0.21420	N	0.074829	T	0.23806	0.0576	M	0.65975	2.015	0.09310	N	1	P;P	0.52316	0.952;0.84	B;B	0.35413	0.202;0.091	T	0.21518	-1.0243	10	0.10636	T	0.68	-17.3955	10.3439	0.43895	0.0:0.7439:0.1227:0.1335	.	223;213	B4DLN2;O15117	.;FYB_HUMAN	K	213;213;213;213;223;213	ENSP00000316460:E213K;ENSP00000426346:E213K;ENSP00000425845:E213K;ENSP00000427114:E213K;ENSP00000442840:E223K	ENSP00000316460:E213K	E	-	1	0	FYB	39238183	0.808000	0.29022	0.014000	0.15608	0.008000	0.06430	2.054000	0.41335	1.546000	0.49388	0.655000	0.94253	GAA		0.527	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
C5orf51	285636	broad.mit.edu	37	5	41917356	41917356	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:41917356G>A	ENST00000381647.2	+	6	859	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	280								p.T280T(2)		endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGAATACAACGAATGCAAAAC	0.343																																					p.T280T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G840A	5						.						77.0	76.0	76.0					5																	41917356		2203	4300	6503	41953113	SO:0001819	synonymous_variant	285636	exon6			AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.840G>A	5.37:g.41917356G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41953113	NM_175921	A2RRM9	Silent	SNP	ENST00000381647.2	37	CCDS34151.1																																																																																				0.343	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921	
NIM1K	167359	broad.mit.edu	37	5	43280577	43280577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:43280577G>T	ENST00000512796.1	+	4	2556	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.E353*			Q8IY84	NIM1_HUMAN		353					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E353*(1)									TCTCAAGGAAGAAGAAAATGA	0.448																																					p.E353X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1057T	5						.						95.0	93.0	94.0					5																	43280577		2203	4300	6503	43316334	SO:0001587	stop_gained	167359	exon4																														ENST00000512796.1:c.1057G>T	5.37:g.43280577G>T	ENSP00000420849:p.Glu353*	Somatic		Capture	Illumina HiSeq	Phase_I	43316334	NM_153361	B3KVM1	Nonsense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	47	13.104846	0.99720	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.5799	0.95461	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000313572:E353X	E	+	1	0	AC114947.1	43316334	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.884000	0.87274	2.642000	0.89623	0.655000	0.94253	GAA		0.448	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral component of membrane (GO:0016021)		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388																																					p.R162C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C484T	5						.						120.0	113.0	115.0					5																	43446488		2203	4300	6503	43482245	SO:0001583	missense	64417	exon3			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.484C>T	5.37:g.43446488G>A	ENSP00000426067:p.Arg162Cys	Somatic		Capture	Illumina HiSeq	Phase_I	43482245	NM_022483	B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	C5orf28	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT		0.388	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483	
DHX29	54505	broad.mit.edu	37	5	54566410	54566410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:54566410C>A	ENST00000251636.5	-	19	3137	c.2989G>T	c.(2989-2991)Gaa>Taa	p.E997*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	997	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.E997*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CCATACCTTTCTCTTGTGTAC	0.403																																					p.E997X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2989T	5						.						129.0	126.0	127.0					5																	54566410		2203	4300	6503	54602167	SO:0001587	stop_gained	54505	exon19			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2989G>T	5.37:g.54566410C>A	ENSP00000251636:p.Glu997*	Somatic		Capture	Illumina HiSeq	Phase_I	54602167	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	41	8.748798	0.98939	.	.	ENSG00000067248	ENST00000251636	.	.	.	5.74	5.74	0.90152	.	0.288730	0.42053	D	0.000766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	.	.	.	X	997	.	ENSP00000251636:E997X	E	-	1	0	DHX29	54602167	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.804000	0.69135	2.723000	0.93209	0.591000	0.81541	GAA		0.403	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
DHX29	54505	broad.mit.edu	37	5	54570516	54570516	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:54570516G>T	ENST00000251636.5	-	16	2764	c.2616C>A	c.(2614-2616)atC>atA	p.I872I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	872	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.I872I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTGGTAAAAAGATCAATACTG	0.294																																					p.I872I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2616A	5						.						33.0	32.0	33.0					5																	54570516		2199	4292	6491	54606273	SO:0001819	synonymous_variant	54505	exon16			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2616C>A	5.37:g.54570516G>T		Somatic		Capture	Illumina HiSeq	Phase_I	54606273	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	CCDS34158.1																																																																																				0.294	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
DHX29	54505	broad.mit.edu	37	5	54570706	54570706	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:54570706G>T	ENST00000251636.5	-	15	2708	c.2560C>A	c.(2560-2562)Ctt>Att	p.L854I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	854	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.L854I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAGTATGCAAGAAGTTCCAAA	0.318																																					p.L854I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2560A	5						.						111.0	116.0	114.0					5																	54570706		2203	4300	6503	54606463	SO:0001583	missense	54505	exon15			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2560C>A	5.37:g.54570706G>T	ENSP00000251636:p.Leu854Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54606463	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170759	0.21621	.	.	ENSG00000067248	ENST00000251636	T	0.02763	4.17	5.1	5.1	0.69264	Helicase, C-terminal (1);	0.154565	0.50627	D	0.000118	T	0.03220	0.0094	L	0.31526	0.94	0.47621	D	0.999475	B	0.26547	0.152	B	0.25987	0.065	T	0.52638	-0.8549	10	0.10111	T	0.7	.	18.8847	0.92372	0.0:0.0:1.0:0.0	.	854	Q7Z478	DHX29_HUMAN	I	854	ENSP00000251636:L854I	ENSP00000251636:L854I	L	-	1	0	DHX29	54606463	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.941000	0.56607	2.538000	0.85594	0.563000	0.77884	CTT		0.318	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
IL31RA	133396	broad.mit.edu	37	5	55210745	55210745	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:55210745G>A	ENST00000447346.2	+	14	1872	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	IL31RA_ENST00000354961.4_Missense_Mutation_p.D584N|IL31RA_ENST00000490985.1_Missense_Mutation_p.D461N|IL31RA_ENST00000359040.5_Missense_Mutation_p.D603N|IL31RA_ENST00000396834.1_Missense_Mutation_p.D584N	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	571					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.D603N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGGCATGGAGATGATTTCAA	0.448																																					p.D603N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1807A	5						.						118.0	107.0	111.0					5																	55210745		2203	4300	6503	55246502	SO:0001583	missense	133396	exon14			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1807G>A	5.37:g.55210745G>A	ENSP00000415900:p.Asp603Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55246502	NM_139017	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630895	0.46944	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	T;T;T;T;T	0.43688	1.17;1.15;1.16;0.94;1.17	4.95	-2.7	0.06004	.	0.907880	0.09504	N	0.793207	T	0.24044	0.0582	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20671	0.047;0.047;0.047	B;B;B	0.20955	0.032;0.032;0.032	T	0.36089	-0.9762	10	0.02654	T	1	-7.8934	5.0815	0.14659	0.4093:0.2667:0.324:0.0	.	603;584;603	Q8NI17-5;Q8NI17-3;Q8NI17-2	.;.;.	N	584;603;603;461;584	ENSP00000380046:D584N;ENSP00000415900:D603N;ENSP00000351935:D603N;ENSP00000427533:D461N;ENSP00000347047:D584N	ENSP00000347047:D584N	D	+	1	0	IL31RA	55246502	0.000000	0.05858	0.000000	0.03702	0.745000	0.42441	-0.218000	0.09240	-0.704000	0.05042	0.655000	0.94253	GAT		0.448	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
MIER3	166968	broad.mit.edu	37	5	56234736	56234736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:56234736C>A	ENST00000381199.3	-	4	299	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000381213.3_Nonsense_Mutation_p.E97*|MIER3_ENST00000409421.1_Nonsense_Mutation_p.E34*|MIER3_ENST00000381226.3_Nonsense_Mutation_p.E102*			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E97*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCTGGTAGTTCATCTGCCAGT	0.388																																					p.E97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G289T	5						.						175.0	165.0	168.0					5																	56234736		2203	4300	6503	56270493	SO:0001587	stop_gained	166968	exon4			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.289G>T	5.37:g.56234736C>A	ENSP00000370596:p.Glu97*	Somatic		Capture	Illumina HiSeq	Phase_I	56270493	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Nonsense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	29.0	4.964608	0.92791	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	.	.	.	5.63	5.63	0.86233	.	0.089692	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-17.1417	19.6819	0.95967	0.0:1.0:0.0:0.0	.	.	.	.	X	102;97;97;34;70	.	ENSP00000337027:E70X	E	-	1	0	MIER3	56270493	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.947000	0.70242	2.650000	0.89964	0.563000	0.77884	GAA		0.388	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
ACTBL2	345651	broad.mit.edu	37	5	56777509	56777509	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:56777509A>C	ENST00000423391.1	-	1	1127	c.1026T>G	c.(1024-1026)atT>atG	p.I342M	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	342						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I342M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGGAGCCCCCAATCCAAACAG	0.488																																					p.I342M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1026G	5						.						81.0	84.0	83.0					5																	56777509		2203	4300	6503	56813266	SO:0001583	missense	345651	exon1				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.1026T>G	5.37:g.56777509A>C	ENSP00000416706:p.Ile342Met	Somatic		Capture	Illumina HiSeq	Phase_I	56813266	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770576	0.31320	.	.	ENSG00000169067	ENST00000423391	D	0.95307	-3.67	4.98	-1.94	0.07571	.	0.000000	0.64402	D	0.000005	D	0.96485	0.8853	M	0.93763	3.455	0.34432	D	0.6986	P	0.37083	0.581	P	0.56434	0.798	D	0.94455	0.7671	10	0.87932	D	0	.	3.4732	0.07575	0.4966:0.0:0.2405:0.2629	.	342	Q562R1	ACTBL_HUMAN	M	342	ENSP00000416706:I342M	ENSP00000416706:I342M	I	-	3	3	ACTBL2	56813266	0.739000	0.28196	0.997000	0.53966	0.996000	0.88848	-0.073000	0.11468	-0.192000	0.10432	0.533000	0.62120	ATT		0.488	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
PDE4D	5144	broad.mit.edu	37	5	58481063	58481063	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:58481063C>T	ENST00000340635.6	-	4	885	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	PDE4D_ENST00000502484.2_Missense_Mutation_p.R176Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.R176Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.R101Q|PDE4D_ENST00000502575.1_Missense_Mutation_p.R173Q|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Missense_Mutation_p.R173Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.R107Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.R115Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	237					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAAGTTGTTTCGTACAGTTCG	0.363																																					p.R115Q												.	.	0			c.G344A	5						.						98.0	94.0	96.0					5																	58481063		1884	4111	5995	58516820	SO:0001583	missense	5144	exon4				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.710G>A	5.37:g.58481063C>T	ENSP00000345502:p.Arg237Gln	None		Capture	Illumina HiSeq	Phase_I	58516820	NM_001197219	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209383	0.95069	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;D	0.88046	-0.88;-0.85;-0.9;-0.85;-0.87;-0.9;-0.9;-2.33	5.42	5.42	0.78866	.	0.337028	0.27613	N	0.018588	D	0.94345	0.8182	M	0.86178	2.8	0.45837	D	0.998704	D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.994;0.961;1.0;1.0;0.997	D;D;D;P;P;D;D;D	0.91635	0.964;0.999;0.947;0.885;0.785;0.964;0.964;0.947	D	0.94890	0.8047	10	0.87932	D	0	.	18.8183	0.92086	0.0:1.0:0.0:0.0	.	117;173;176;237;173;100;115;107	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	Q	237;106;101;173;107;115;176;176;173	ENSP00000345502:R237Q;ENSP00000353152:R101Q;ENSP00000424852:R173Q;ENSP00000425605:R107Q;ENSP00000384806:R115Q;ENSP00000423094:R176Q;ENSP00000442734:R176Q;ENSP00000425917:R173Q	ENSP00000308485:R173Q	R	-	2	0	PDE4D	58516820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.020000	0.70826	2.560000	0.86352	0.591000	0.81541	CGA		0.363	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
IPO11	51194	broad.mit.edu	37	5	61789937	61789937	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:61789937G>T	ENST00000325324.6	+	16	1745	c.1576G>T	c.(1576-1578)Gat>Tat	p.D526Y	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.D566Y	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	526					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.D526Y(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTGCTTCAAGATCAAGATTT	0.373																																					p.D566Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1696T	5						.						101.0	98.0	99.0					5																	61789937		2203	4300	6503	61825694	SO:0001583	missense	51194	exon16			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1576G>T	5.37:g.61789937G>T	ENSP00000316651:p.Asp526Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	61825694	NM_001134779	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438651	0.83885	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.75589	-0.95;-0.95	4.42	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	M	0.68317	2.08	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.59643	0.861;0.646	D	0.85822	0.1386	10	0.72032	D	0.01	.	17.4053	0.87472	0.0:0.0:1.0:0.0	.	566;526	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	Y	526;566;96	ENSP00000316651:D526Y;ENSP00000386992:D566Y	ENSP00000316651:D526Y	D	+	1	0	IPO11	61825694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.170000	0.68504	0.563000	0.77884	GAT		0.373	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
ADAMTS6	11174	broad.mit.edu	37	5	64511157	64511157	+	IGR	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:64511157G>A								ADAMTS6 (16565 upstream) : ADAMTS6 (81877 downstream)														p.I810I(1)									TTACCATGACGATGAGATTTT	0.418																																					p.I810I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2430T	5						.						155.0	141.0	146.0					5																	64511157		2203	4300	6503	64546913	SO:0001628	intergenic_variant	11174	exon19																															5.37:g.64511157G>A		Somatic		Capture	Illumina HiSeq	Phase_I	64546913	NM_197941		Silent	SNP		37																																																																																				0	0.418								
TRIM23	373	broad.mit.edu	37	5	64905248	64905248	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:64905248C>T	ENST00000231524.9	-	6	1237	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TRIM23_ENST00000274327.7_Missense_Mutation_p.R289Q|TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000381018.3_Missense_Mutation_p.R289Q	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	289					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R289Q(3)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AAAATAAGCTCGAATACATGA	0.353																																					p.R289Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G866A	5						.						85.0	78.0	80.0					5																	64905248		2203	4300	6503	64941004	SO:0001583	missense	373	exon6			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.866G>A	5.37:g.64905248C>T	ENSP00000231524:p.Arg289Gln	Somatic		Capture	Illumina HiSeq	Phase_I	64941004	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540007	0.96474	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74632	-0.78;-0.78;-0.86	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.61703	1.905	0.80722	D	1	D;D;D	0.61697	0.957;0.99;0.975	B;P;B	0.46718	0.246;0.525;0.427	T	0.80216	-0.1474	10	0.56958	D	0.05	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	289;289;289	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	289	ENSP00000231524:R289Q;ENSP00000370406:R289Q;ENSP00000274327:R289Q	ENSP00000231524:R289Q	R	-	2	0	TRIM23	64941004	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.685000	0.91497	0.655000	0.94253	CGA		0.353	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
ERBB2IP	55914	broad.mit.edu	37	5	65342302	65342302	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:65342302T>C	ENST00000284037.5	+	18	2113	c.1724T>C	c.(1723-1725)gTg>gCg	p.V575A	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.V575A|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.V575A|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.V575A|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.V571A|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.V575A|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.V575A|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.V575A|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.V575A	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	575					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.V575A(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGTTTACCAGTGACTGCAAAT	0.348																																					p.V575A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1724C	5						.						173.0	186.0	182.0					5																	65342302		2203	4300	6503	65378058	SO:0001583	missense	55914	exon18				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1724T>C	5.37:g.65342302T>C	ENSP00000284037:p.Val575Ala	Somatic		Capture	Illumina HiSeq	Phase_I	65378058	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637963	0.29157	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47	5.28	1.55	0.23275	.	0.724222	0.13077	N	0.415617	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.23806	0.023;0.014;0.014;0.054;0.089;0.023;0.091	B;B;B;B;B;B;B	0.27380	0.047;0.009;0.009;0.05;0.049;0.02;0.079	T	0.48625	-0.9019	10	0.13108	T	0.6	.	3.7814	0.08682	0.152:0.2361:0.0:0.6119	.	575;575;575;571;575;575;575	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	A	575;575;575;575;575;575;571;575;575	ENSP00000284037:V575A;ENSP00000370330:V575A;ENSP00000370326:V575A;ENSP00000370323:V575A;ENSP00000370322:V575A;ENSP00000370325:V575A;ENSP00000422766:V571A;ENSP00000426632:V575A;ENSP00000422015:V575A	ENSP00000284037:V575A	V	+	2	0	ERBB2IP	65378058	0.970000	0.33590	0.401000	0.26359	0.902000	0.53008	1.314000	0.33597	0.317000	0.23160	0.533000	0.62120	GTG		0.348	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
CDK7	1022	broad.mit.edu	37	5	68531270	68531270	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:68531270C>T	ENST00000256443.3	+	2	219	c.116C>T	c.(115-117)gCc>gTc	p.A39V	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Missense_Mutation_p.A39V|CDK7_ENST00000502604.1_5'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)	p.A39V(1)		endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CAAATTGTCGCCATTAAGAAA	0.328								Nucleotide excision repair (NER)																													p.A39V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116T	5						.						134.0	149.0	144.0					5																	68531270		2203	4300	6503	68567026	SO:0001583	missense	1022	exon2				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.116C>T	5.37:g.68531270C>T	ENSP00000256443:p.Ala39Val	Somatic		Capture	Illumina HiSeq	Phase_I	68567026	NM_001799	Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662770	0.88251	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	T;T	0.72725	-0.68;-0.68	4.85	4.85	0.62838	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	D	0.85596	0.5733	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88094	0.2815	10	0.87932	D	0	.	14.9915	0.71393	0.0:1.0:0.0:0.0	.	39;39	D6RIG9;P50613	.;CDK7_HUMAN	V	39	ENSP00000256443:A39V;ENSP00000422737:A39V	ENSP00000256443:A39V	A	+	2	0	CDK7	68567026	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.857000	0.62939	2.507000	0.84556	0.561000	0.74099	GCC		0.328	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799	
OCLN	100506658	broad.mit.edu	37	5	68805445	68805445	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:68805445A>C	ENST00000355237.2	+	3	964	c.528A>C	c.(526-528)atA>atC	p.I176I	OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Silent_p.I176I|OCLN_ENST00000396442.2_Silent_p.I176I|OCLN_ENST00000542132.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	176	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)	p.I176I(1)		endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAAGTGTGATAATAGTGAGTG	0.408																																					p.V176V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528C	5						.						221.0	198.0	205.0					5																	68805445		2203	4300	6503	68841201	SO:0001819	synonymous_variant	4950	exon3			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.528A>C	5.37:g.68805445A>C		Somatic		Capture	Illumina HiSeq	Phase_I	68841201	NM_002538	B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	CCDS4006.1																																																																																				0.408	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538	
MAP1B	4131	broad.mit.edu	37	5	71492400	71492400	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:71492400G>A	ENST00000296755.7	+	5	3516	c.3218G>A	c.(3217-3219)gGa>gAa	p.G1073E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1073					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G1073E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGCAACTAGGAGCCCAGTCT	0.547																																					p.G1073E	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3218A	5						.						70.0	75.0	73.0					5																	71492400		2203	4300	6503	71528156	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3218G>A	5.37:g.71492400G>A	ENSP00000296755:p.Gly1073Glu	Somatic		Capture	Illumina HiSeq	Phase_I	71528156	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	7.299	0.612580	0.14066	.	.	ENSG00000131711	ENST00000296755	T	0.02974	4.09	5.86	4.99	0.66335	.	0.086652	0.50627	D	0.000116	T	0.01558	0.0050	N	0.04508	-0.205	0.42799	D	0.993921	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.004	T	0.56768	-0.7924	10	0.30078	T	0.28	-15.6449	7.156	0.25637	0.2826:0.0:0.7174:0.0	.	947;1073	A2BDK6;P46821	.;MAP1B_HUMAN	E	1073	ENSP00000296755:G1073E	ENSP00000296755:G1073E	G	+	2	0	MAP1B	71528156	1.000000	0.71417	0.977000	0.42913	0.343000	0.28985	2.120000	0.41968	1.489000	0.48450	0.655000	0.94253	GGA		0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71495897	71495897	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:71495897C>A	ENST00000296755.7	+	5	7013	c.6715C>A	c.(6715-6717)Ctg>Atg	p.L2239M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2239					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.L2239M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAGAAAGATCTGAAAGAGAA	0.517																																					p.L2239M	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6715A	5						.						101.0	103.0	102.0					5																	71495897		2203	4300	6503	71531653	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6715C>A	5.37:g.71495897C>A	ENSP00000296755:p.Leu2239Met	Somatic		Capture	Illumina HiSeq	Phase_I	71531653	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347654	0.24426	.	.	ENSG00000131711	ENST00000296755	T	0.03772	3.81	5.79	4.92	0.64577	.	0.000000	0.51477	D	0.000098	T	0.08935	0.0221	L	0.47716	1.5	0.29808	N	0.831875	P;D	0.56035	0.893;0.974	P;P	0.51324	0.666;0.621	T	0.04427	-1.0952	10	0.42905	T	0.14	-10.1413	9.6482	0.39881	0.1406:0.7889:0.0:0.0705	.	2113;2239	A2BDK6;P46821	.;MAP1B_HUMAN	M	2239	ENSP00000296755:L2239M	ENSP00000296755:L2239M	L	+	1	2	MAP1B	71531653	0.827000	0.29292	1.000000	0.80357	0.993000	0.82548	1.279000	0.33191	1.454000	0.47793	0.655000	0.94253	CTG		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
PTCD2	79810	broad.mit.edu	37	5	71654186	71654186	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:71654186C>T	ENST00000380639.5	+	10	1115	c.1099C>T	c.(1099-1101)Cta>Tta	p.L367L	PTCD2_ENST00000503868.1_Silent_p.L258L|PTCD2_ENST00000460837.2_3'UTR|CTC-365E16.1_ENST00000606310.1_lincRNA|PTCD2_ENST00000536805.1_Silent_p.L195L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	367					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.L367L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TCACACGTTGCTATTAAACAA	0.542																																					p.L367L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1099T	5						.						83.0	71.0	75.0					5																	71654186		2203	4300	6503	71689942	SO:0001819	synonymous_variant	79810	exon10			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.1099C>T	5.37:g.71654186C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71689942	NM_024754	B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Silent	SNP	ENST00000380639.5	37	CCDS4014.2																																																																																				0.542	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	
TNPO1	3842	broad.mit.edu	37	5	72189237	72189237	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:72189237C>T	ENST00000337273.5	+	17	2356	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	TNPO1_ENST00000506351.2_Missense_Mutation_p.P636S|TNPO1_ENST00000454282.1_Missense_Mutation_p.P594S|TNPO1_ENST00000523768.1_Missense_Mutation_p.P594S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	644					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.P636S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATATGAAGCTCCAGATAAAGA	0.368																																					p.P636S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1906T	5						.						57.0	59.0	58.0					5																	72189237		2203	4300	6503	72224993	SO:0001583	missense	3842	exon17			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1930C>T	5.37:g.72189237C>T	ENSP00000336712:p.Pro644Ser	Somatic		Capture	Illumina HiSeq	Phase_I	72224993	NM_153188	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953787	0.73902	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.62	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.85041	2.73	0.80722	D	1	P;D	0.53745	0.929;0.962	P;P	0.52189	0.692;0.53	T	0.61893	-0.6969	10	0.72032	D	0.01	-10.28	14.9564	0.71116	0.0:0.931:0.0:0.069	.	594;644	Q92973-3;Q92973	.;TNPO1_HUMAN	S	644;594;594;636;155	ENSP00000336712:P644S;ENSP00000398524:P594S;ENSP00000428899:P594S;ENSP00000425118:P636S	ENSP00000336712:P644S	P	+	1	0	TNPO1	72224993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.384000	0.79751	1.509000	0.48786	0.650000	0.86243	CCA		0.368	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
FCHO2	115548	broad.mit.edu	37	5	72348293	72348293	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:72348293A>C	ENST00000430046.2	+	13	1248	c.1132A>C	c.(1132-1134)Aaa>Caa	p.K378Q	FCHO2_ENST00000512348.1_Missense_Mutation_p.K345Q|FCHO2_ENST00000341845.6_Missense_Mutation_p.K378Q	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	378					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K378Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGATGAATTAAAAGTATCTAT	0.343																																					p.K345Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1033C	5						.						69.0	66.0	67.0					5																	72348293		1830	4084	5914	72384049	SO:0001583	missense	115548	exon12			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1132A>C	5.37:g.72348293A>C	ENSP00000393776:p.Lys378Gln	Somatic		Capture	Illumina HiSeq	Phase_I	72384049	NM_001146032	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677109	0.88445	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.20200	2.09;2.09;2.09	5.47	5.47	0.80525	.	0.167891	0.51477	D	0.000086	T	0.44435	0.1293	M	0.73217	2.22	0.48696	D	0.99969	D;P	0.76494	0.999;0.905	D;B	0.65874	0.939;0.419	T	0.33650	-0.9860	10	0.44086	T	0.13	-19.6215	15.5496	0.76137	1.0:0.0:0.0:0.0	.	345;378	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	Q	378;378;345	ENSP00000393776:K378Q;ENSP00000344034:K378Q;ENSP00000427296:K345Q	ENSP00000344034:K378Q	K	+	1	0	FCHO2	72384049	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.265000	0.78442	2.065000	0.61736	0.528000	0.53228	AAA		0.343	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
FCHO2	115548	broad.mit.edu	37	5	72364553	72364553	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:72364553C>A	ENST00000430046.2	+	19	1642	c.1526C>A	c.(1525-1527)tCt>tAt	p.S509Y	FCHO2_ENST00000512348.1_Missense_Mutation_p.S476Y|FCHO2_ENST00000341845.6_Missense_Mutation_p.S509Y	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	509	Ser-rich.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S509Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GCAGAAAGTTCTTCTTCTATC	0.423																																					p.S476Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427A	5						.						98.0	102.0	101.0					5																	72364553		1928	4133	6061	72400309	SO:0001583	missense	115548	exon18			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1526C>A	5.37:g.72364553C>A	ENSP00000393776:p.Ser509Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	72400309	NM_001146032	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547384	0.45383	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.37058	1.22;1.22;3.65	5.97	5.09	0.68999	.	0.333631	0.32343	N	0.006229	T	0.31796	0.0808	L	0.43152	1.355	0.36654	D	0.877559	B;B	0.32693	0.38;0.148	B;B	0.34180	0.177;0.049	T	0.36939	-0.9727	10	0.48119	T	0.1	-10.4157	10.6937	0.45886	0.0:0.7846:0.1388:0.0766	.	476;509	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	Y	509;509;476	ENSP00000393776:S509Y;ENSP00000344034:S509Y;ENSP00000427296:S476Y	ENSP00000344034:S509Y	S	+	2	0	FCHO2	72400309	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.578000	0.53892	1.492000	0.48499	0.585000	0.79938	TCT		0.423	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
COL4A3BP	10087	broad.mit.edu	37	5	74681746	74681746	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:74681746G>A	ENST00000405807.4	-	13	1819	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000380494.5_Silent_p.D594D|COL4A3BP_ENST00000261415.7_Silent_p.D440D	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	466	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.D466D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATTGCGAACGTCAACATTCC	0.343																																					p.D594D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1782T	5						.						62.0	55.0	57.0					5																	74681746		2202	4299	6501	74717502	SO:0001819	synonymous_variant	10087	exon14			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1398C>T	5.37:g.74681746G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74717502	NM_001130105	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	CCDS4028.1																																																																																				0.343	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	
SV2C	22987	broad.mit.edu	37	5	75621260	75621260	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:75621260C>A	ENST00000502798.2	+	13	2514	c.2072C>A	c.(2071-2073)tCt>tAt	p.S691Y	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	691					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.S691Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATATTTGGCTCTCTGGTCAGC	0.522																																					p.S691Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2072A	5						.						125.0	121.0	122.0					5																	75621260		2010	4189	6199	75657016	SO:0001583	missense	22987	exon13			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.2072C>A	5.37:g.75621260C>A	ENSP00000423541:p.Ser691Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	75657016	NM_014979	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950034	0.92660	.	.	ENSG00000122012	ENST00000502798	T	0.55760	0.5	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	L	0.37750	1.13	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64901	-0.6298	10	0.48119	T	0.1	-29.1182	19.6758	0.95932	0.0:1.0:0.0:0.0	.	691	Q496J9	SV2C_HUMAN	Y	691	ENSP00000423541:S691Y	ENSP00000423541:S691Y	S	+	2	0	SV2C	75657016	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.794000	0.85869	2.644000	0.89710	0.561000	0.74099	TCT		0.522	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
IQGAP2	10788	broad.mit.edu	37	5	75896683	75896683	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:75896683C>T	ENST00000274364.6	+	11	1415	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	373					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.S373F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAATGTTGTCTGCTGTTGCT	0.463																																					p.S373F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118T	5						.						164.0	145.0	152.0					5																	75896683		2203	4300	6503	75932439	SO:0001583	missense	10788	exon11			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1118C>T	5.37:g.75896683C>T	ENSP00000274364:p.Ser373Phe	Somatic		Capture	Illumina HiSeq	Phase_I	75932439	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819294	0.90873	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.14266	2.52;2.52;2.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.37361	-0.9709	10	0.62326	D	0.03	-15.4557	19.8621	0.96787	0.0:1.0:0.0:0.0	.	373	Q13576	IQGA2_HUMAN	F	373;346;323	ENSP00000274364:S373F;ENSP00000423672:S346F;ENSP00000421097:S323F	ENSP00000274364:S373F	S	+	2	0	IQGAP2	75932439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.107000	0.77047	2.770000	0.95276	0.563000	0.77884	TCT		0.463	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
PDE8B	8622	broad.mit.edu	37	5	76700600	76700600	+	Silent	SNP	G	G	A	rs146656374		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:76700600G>A	ENST00000264917.5	+	12	1311	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	PDE8B_ENST00000342343.4_Silent_p.S402S|PDE8B_ENST00000340978.3_Silent_p.S375S|PDE8B_ENST00000333194.4_Silent_p.S422S|PDE8B_ENST00000346042.3_Silent_p.S325S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	422					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S422S(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ACGTGAAATCGATATCATCTC	0.358																																					p.S422S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1266A	5						.	G	,,,,	0,4406		0,0,2203	97.0	94.0	95.0		975,1266,1206,1125,1266	-9.3	0.4	5	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE8B	NM_001029851.2,NM_001029852.2,NM_001029853.2,NM_001029854.2,NM_003719.3	,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,	325/789,422/831,402/866,375/839,422/886	76700600	2,13004	2203	4300	6503	76736356	SO:0001819	synonymous_variant	8622	exon12			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1266G>A	5.37:g.76700600G>A		Somatic		Capture	Illumina HiSeq	Phase_I	76736356	NM_003719	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.358	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
AP3B1	8546	broad.mit.edu	37	5	77511916	77511916	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:77511916C>T	ENST00000255194.6	-	7	924	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	AP3B1_ENST00000519295.1_Missense_Mutation_p.R201Q	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	250					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.R250Q(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCGAGCATATCGAGTTAGCAT	0.398									Hermansky-Pudlak syndrome																												p.R250Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	5						.						136.0	129.0	131.0					5																	77511916		2203	4300	6503	77547672	SO:0001583	missense	8546	exon7	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.749G>A	5.37:g.77511916C>T	ENSP00000255194:p.Arg250Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77547672	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693739	0.96793	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.26810	1.71;1.71	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71244	-0.4650	10	0.87932	D	0	-8.8829	19.497	0.95077	0.0:1.0:0.0:0.0	.	250	O00203	AP3B1_HUMAN	Q	250;201;250;154	ENSP00000255194:R250Q;ENSP00000430597:R201Q	ENSP00000255194:R250Q	R	-	2	0	AP3B1	77547672	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.772000	0.85439	2.613000	0.88420	0.655000	0.94253	CGA		0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
DMGDH	29958	broad.mit.edu	37	5	78293911	78293911	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:78293911T>G	ENST00000255189.3	-	16	2623	c.2595A>C	c.(2593-2595)aaA>aaC	p.K865N		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	865					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.K865N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTTCAAGTTTTGTCCTTTC	0.403																																					p.K865N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2595C	5						.						186.0	180.0	182.0					5																	78293911		2203	4300	6503	78329667	SO:0001583	missense	29958	exon16			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2595A>C	5.37:g.78293911T>G	ENSP00000255189:p.Lys865Asn	Somatic		Capture	Illumina HiSeq	Phase_I	78329667	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272834	0.40194	.	.	ENSG00000132837	ENST00000255189	T	0.74842	-0.88	5.55	3.19	0.36642	.	0.582759	0.18071	N	0.152609	T	0.52306	0.1726	N	0.08118	0	0.28460	N	0.915908	B	0.32245	0.361	B	0.29942	0.109	T	0.49899	-0.8890	10	0.56958	D	0.05	.	8.9567	0.35823	0.0:0.1562:0.0:0.8438	.	865	Q9UI17	M2GD_HUMAN	N	865	ENSP00000255189:K865N	ENSP00000255189:K865N	K	-	3	2	DMGDH	78329667	0.883000	0.30277	0.000000	0.03702	0.120000	0.20174	2.633000	0.46519	0.541000	0.28827	-0.326000	0.08463	AAA		0.403	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
DMGDH	29958	broad.mit.edu	37	5	78320134	78320134	+	Missense_Mutation	SNP	G	G	T	rs138024562		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:78320134G>T	ENST00000255189.3	-	14	2238	c.2210C>A	c.(2209-2211)cCt>cAt	p.P737H	DMGDH_ENST00000380311.4_Missense_Mutation_p.P536H|DMGDH_ENST00000540686.1_Missense_Mutation_p.P357H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	737					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.P737H(1)|p.P737L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGCTTCCAAAGGATTTGTATC	0.308																																					p.P737H												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C2210A	5						.						100.0	97.0	98.0					5																	78320134		2202	4297	6499	78355890	SO:0001583	missense	29958	exon14			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2210C>A	5.37:g.78320134G>T	ENSP00000255189:p.Pro737His	Somatic		Capture	Illumina HiSeq	Phase_I	78355890	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674797	0.88445	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	6.06	6.06	0.98353	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98920	1.0783	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	357;536;587;737	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	737;576;536;357;587	ENSP00000255189:P737H;ENSP00000430972:P576H;ENSP00000369667:P536H;ENSP00000439478:P357H	ENSP00000255189:P737H	P	-	2	0	DMGDH	78355890	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.653000	0.98506	2.871000	0.98454	0.655000	0.94253	CCT		0.308	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
DMGDH	29958	broad.mit.edu	37	5	78340294	78340294	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:78340294G>A	ENST00000255189.3	-	6	855	c.827C>T	c.(826-828)tCg>tTg	p.S276L	DMGDH_ENST00000380311.4_Missense_Mutation_p.S75L|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	276					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.S276L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGATATAGTCGATGTAACAAC	0.398																																					p.S276L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C827T	5						.						115.0	103.0	107.0					5																	78340294		2203	4300	6503	78376050	SO:0001583	missense	29958	exon6			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.827C>T	5.37:g.78340294G>A	ENSP00000255189:p.Ser276Leu	Somatic		Capture	Illumina HiSeq	Phase_I	78376050	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.167039	0.57476	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.30448	1.53;1.53;1.53	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.273092	0.34906	N	0.003598	T	0.25644	0.0624	L	0.34521	1.04	0.80722	D	1	P;P;P	0.45768	0.866;0.528;0.583	B;B;B	0.35607	0.206;0.103;0.166	T	0.09640	-1.0665	10	0.66056	D	0.02	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	75;126;276	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	L	276;115;75;126	ENSP00000255189:S276L;ENSP00000430972:S115L;ENSP00000369667:S75L	ENSP00000255189:S276L	S	-	2	0	DMGDH	78376050	1.000000	0.71417	0.056000	0.19401	0.708000	0.40852	7.681000	0.84073	2.641000	0.89580	0.650000	0.86243	TCG		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
DMGDH	29958	broad.mit.edu	37	5	78351677	78351677	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:78351677C>A	ENST00000255189.3	-	3	359	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	DMGDH_ENST00000520388.1_5'UTR|DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	111					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.D111Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGATGCTATCATAATGTATT	0.333																																					p.D111Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331T	5						.						90.0	93.0	92.0					5																	78351677		2202	4298	6500	78387433	SO:0001583	missense	29958	exon3			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.331G>T	5.37:g.78351677C>A	ENSP00000255189:p.Asp111Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	78387433	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961183	0.74016	.	.	ENSG00000132837	ENST00000255189	T	0.80994	-1.44	6.03	-2.79	0.05841	FAD dependent oxidoreductase (1);	0.396140	0.30781	N	0.008888	T	0.36580	0.0972	N	0.00110	-2.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53989	-0.8360	10	0.02654	T	1	.	13.9482	0.64099	0.7725:0.1622:0.0:0.0652	.	111	Q9UI17	M2GD_HUMAN	Y	111	ENSP00000255189:D111Y	ENSP00000255189:D111Y	D	-	1	0	DMGDH	78387433	0.992000	0.36948	0.737000	0.30932	0.995000	0.86356	0.518000	0.22847	-0.348000	0.08286	0.557000	0.71058	GAT		0.333	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
BHMT2	23743	broad.mit.edu	37	5	78375194	78375194	+	Missense_Mutation	SNP	C	C	T	rs141648685		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:78375194C>T	ENST00000255192.3	+	3	235	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.R57C	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	57	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.R57C(1)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CTTTGTAGTTCGTCAACTTCA	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18926	0.0		0.0	False		,,,				2504	0.0				p.R57C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C169T	5						.	C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	82.0	77.0	79.0		169,169	2.9	1.0	5	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense	BHMT2	NM_001178005.1,NM_017614.4	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	57/300,57/364	78375194	2,13004	2203	4300	6503	78410950	SO:0001583	missense	23743	exon3				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.169C>T	5.37:g.78375194C>T	ENSP00000255192:p.Arg57Cys	Somatic		Capture	Illumina HiSeq	Phase_I	78410950	NM_001178005	B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818425	0.71028	4.54E-4	0.0	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.14022	2.54;2.54	5.72	2.9	0.33743	Homocysteine S-methyltransferase (4);	0.181464	0.47852	D	0.000204	T	0.37517	0.1006	M	0.85710	2.77	0.34390	D	0.694072	B;D	0.89917	0.047;1.0	B;D	0.71184	0.012;0.972	T	0.56141	-0.8028	10	0.52906	T	0.07	-0.4777	11.419	0.49969	0.0:0.7013:0.2339:0.0648	.	57;57	B7Z516;Q9H2M3	.;BHMT2_HUMAN	C	57	ENSP00000255192:R57C;ENSP00000430278:R57C	ENSP00000255192:R57C	R	+	1	0	BHMT2	78410950	0.998000	0.40836	0.954000	0.39281	0.992000	0.81027	1.973000	0.40550	0.737000	0.32582	0.655000	0.94253	CGT		0.368	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614	
PAPD4	167153	broad.mit.edu	37	5	78915896	78915896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:78915896C>T	ENST00000296783.3	+	4	516	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PAPD4_ENST00000504233.1_Nonsense_Mutation_p.R73*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.R73*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.R73*|PAPD4_ENST00000453514.1_Nonsense_Mutation_p.R73*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	73					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.R73*(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCCATTATTTCGAGGAAGGAA	0.338																																					p.R73X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C217T	5						.						29.0	29.0	29.0					5																	78915896		2201	4300	6501	78951652	SO:0001587	stop_gained	167153	exon3			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.217C>T	5.37:g.78915896C>T	ENSP00000296783:p.Arg73*	Somatic		Capture	Illumina HiSeq	Phase_I	78951652	NM_001114394	Q86WZ2|Q8N927	Nonsense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	39	7.385374	0.98252	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	.	.	.	5.59	5.59	0.84812	.	0.587434	0.16470	N	0.213026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7837	13.593	0.61971	0.1548:0.8451:0.0:0.0	.	.	.	.	X	73	.	ENSP00000296783:R73X	R	+	1	2	PAPD4	78951652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.180000	0.32005	2.642000	0.89623	0.591000	0.81541	CGA		0.338	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
CMYA5	202333	broad.mit.edu	37	5	79030693	79030693	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:79030693T>C	ENST00000446378.2	+	2	6136	c.6105T>C	c.(6103-6105)gaT>gaC	p.D2035D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2035					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.D2035D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAAAGAAGATAGCCAGGAAA	0.428																																					p.D2035D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6105C	5						.						54.0	54.0	54.0					5																	79030693		1832	4081	5913	79066449	SO:0001819	synonymous_variant	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6105T>C	5.37:g.79030693T>C		Somatic		Capture	Illumina HiSeq	Phase_I	79066449	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.428	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79054675	79054675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:79054675C>A	ENST00000446378.2	+	7	11241	c.11210C>A	c.(11209-11211)tCa>tAa	p.S3737*	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3737	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S3737*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCATTGATTCATTTCAGGTT	0.408																																					p.S3737X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C11210A	5						.						145.0	136.0	139.0					5																	79054675		1946	4144	6090	79090431	SO:0001587	stop_gained	202333	exon7			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11210C>A	5.37:g.79054675C>A	ENSP00000394770:p.Ser3737*	Somatic		Capture	Illumina HiSeq	Phase_I	79090431	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	53	20.505629	0.99931	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.07	5.07	0.68467	.	0.000000	0.42548	D	0.000696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5936	0.28035	0.0:0.63:0.2843:0.0856	.	.	.	.	X	3737	.	ENSP00000394770:S3737X	S	+	2	0	CMYA5	79090431	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	3.376000	0.52417	2.631000	0.89168	0.561000	0.74099	TCA		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
SPZ1	84654	broad.mit.edu	37	5	79616749	79616749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:79616749G>T	ENST00000296739.4	+	1	960	c.715G>T	c.(715-717)Gaa>Taa	p.E239*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	239	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E239*(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TGTTCAAGAAGAAACTATGAA	0.333																																					p.E239X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G715T	5						.						63.0	58.0	59.0					5																	79616749		1839	4095	5934	79652505	SO:0001587	stop_gained	84654	exon1				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.715G>T	5.37:g.79616749G>T	ENSP00000369611:p.Glu239*	Somatic		Capture	Illumina HiSeq	Phase_I	79652505	NM_032567	B2RA21|Q8N4P1|Q8N7E9	Nonsense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603327	0.96614	.	.	ENSG00000164299	ENST00000296739	.	.	.	4.34	2.57	0.30868	.	0.513957	0.18031	N	0.153916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-21.2579	6.1844	0.20490	0.3036:0.0:0.6964:0.0	.	.	.	.	X	239	.	ENSP00000369611:E239X	E	+	1	0	SPZ1	79652505	1.000000	0.71417	0.004000	0.12327	0.733000	0.41908	1.665000	0.37449	0.781000	0.33589	0.557000	0.71058	GAA		0.333	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
ZFYVE16	9765	broad.mit.edu	37	5	79768648	79768648	+	Missense_Mutation	SNP	G	G	T	rs146594488		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:79768648G>T	ENST00000338008.5	+	15	4273	c.4093G>T	c.(4093-4095)Gac>Tac	p.D1365Y	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D1365Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D1365Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1365					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.D1365Y(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGAACAGAAAGACTTTAAAAT	0.393																																					p.D1365Y	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4093T	5						.	G	TYR/ASP,TYR/ASP	0,4406		0,0,2203	92.0	96.0	95.0		4093,4093	5.8	1.0	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZFYVE16	NM_001105251.1,NM_014733.3	160,160	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1365/1540,1365/1540	79768648	1,13005	2203	4300	6503	79804404	SO:0001583	missense	9765	exon16			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4093G>T	5.37:g.79768648G>T	ENSP00000337159:p.Asp1365Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	79804404	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713352	0.89112	0.0	1.16E-4	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.63096	-0.02;-0.02;-0.02	5.75	5.75	0.90469	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000012	T	0.81394	0.4813	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.82999	-0.0178	10	0.87932	D	0	-14.6771	19.5343	0.95242	0.0:0.0:1.0:0.0	.	175;1365	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	Y	1365	ENSP00000337159:D1365Y;ENSP00000423663:D1365Y;ENSP00000426848:D1365Y	ENSP00000337159:D1365Y	D	+	1	0	ZFYVE16	79804404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.935000	0.75886	2.713000	0.92767	0.655000	0.94253	GAC		0.393	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
RASGRF2	5924	broad.mit.edu	37	5	80476047	80476047	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:80476047G>T	ENST00000265080.4	+	18	2807	c.2740G>T	c.(2740-2742)Gct>Tct	p.A914S		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	914					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A914S(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGGAGAACGGCTACCAATCG	0.423																																					p.A914S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2740T	5						.						155.0	148.0	150.0					5																	80476047		2203	4300	6503	80511803	SO:0001583	missense	5924	exon18			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2740G>T	5.37:g.80476047G>T	ENSP00000265080:p.Ala914Ser	Somatic		Capture	Illumina HiSeq	Phase_I	80511803	NM_006909	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386966	0.82902	.	.	ENSG00000113319	ENST00000265080	T	0.30448	1.53	5.58	5.58	0.84498	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.101691	0.64402	D	0.000002	T	0.56016	0.1957	M	0.66939	2.045	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.56619	-0.7949	10	0.66056	D	0.02	.	18.3501	0.90336	0.0:0.0:1.0:0.0	.	914	O14827	RGRF2_HUMAN	S	914	ENSP00000265080:A914S	ENSP00000265080:A914S	A	+	1	0	RASGRF2	80511803	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.011000	0.93618	2.635000	0.89317	0.462000	0.41574	GCT		0.423	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
ACOT12	134526	broad.mit.edu	37	5	80626686	80626686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:80626686C>A	ENST00000307624.3	-	14	1493	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	489	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.E489*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CATATGATTTCACTTCTGATG	0.433																																					p.E489X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1465T	5						.						88.0	83.0	85.0					5																	80626686		2203	4300	6503	80662442	SO:0001587	stop_gained	134526	exon14			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1465G>T	5.37:g.80626686C>A	ENSP00000303246:p.Glu489*	Somatic		Capture	Illumina HiSeq	Phase_I	80662442	NM_130767	B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630834	0.96682	.	.	ENSG00000172497	ENST00000307624	.	.	.	5.74	4.86	0.63082	.	0.113338	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1572	12.9838	0.58579	0.0:0.8385:0.1615:0.0	.	.	.	.	X	489	.	ENSP00000303246:E489X	E	-	1	0	ACOT12	80662442	1.000000	0.71417	0.927000	0.36925	0.705000	0.40729	3.212000	0.51145	1.409000	0.46915	0.561000	0.74099	GAA		0.433	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
RPS23	6228	broad.mit.edu	37	5	81573560	81573560	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:81573560T>G	ENST00000296674.8	-	2	369	c.116A>C	c.(115-117)aAc>aCc	p.N39T	RPS23_ENST00000512493.1_Missense_Mutation_p.N39T|RPS23_ENST00000510019.1_Missense_Mutation_p.N39T|ATP6AP1L_ENST00000380167.4_5'Flank|RPS23_ENST00000503605.1_5'UTR|RPS23_ENST00000507980.1_Missense_Mutation_p.N39T|RPS23_ENST00000511844.1_Missense_Mutation_p.N39T|RPS23_ENST00000510210.1_Missense_Mutation_p.N39T	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	39					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.N39T(1)		prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TCCAAAAGGGTTGGCCTTTAG	0.453																																					p.N39T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A116C	5						.						142.0	142.0	142.0					5																	81573560		1897	4126	6023	81609316	SO:0001583	missense	6228	exon2			AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"""S ribosomal proteins"""	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.116A>C	5.37:g.81573560T>G	ENSP00000296674:p.Asn39Thr	Somatic		Capture	Illumina HiSeq	Phase_I	81609316	NM_001025	P39028|Q6IB08	Missense_Mutation	SNP	ENST00000296674.8	37	CCDS47241.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562263	0.86335	.	.	ENSG00000186468	ENST00000296674;ENST00000510210;ENST00000512493;ENST00000510019;ENST00000507980;ENST00000511844	.	.	.	5.45	5.45	0.79879	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.047210	0.85682	D	0.000000	T	0.72431	0.3459	M	0.80028	2.48	0.80722	D	1	B	0.11235	0.004	B	0.30495	0.116	T	0.71941	-0.4440	9	0.59425	D	0.04	.	15.1702	0.72865	0.0:0.0:0.0:1.0	.	39	P62266	RS23_HUMAN	T	39	.	ENSP00000296674:N39T	N	-	2	0	RPS23	81609316	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.895000	0.87343	2.062000	0.61559	0.533000	0.62120	AAC		0.453	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369546.2	NM_001025	
XRCC4	7518	broad.mit.edu	37	5	82500722	82500722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:82500722C>T	ENST00000511817.1	+	6	807	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	XRCC4_ENST00000338635.6_Missense_Mutation_p.L243F|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000282268.3_Missense_Mutation_p.L243F|XRCC4_ENST00000396027.4_Missense_Mutation_p.L243F			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	243					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.L243F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CCAAACTGATCTCTCTGGGTT	0.388								Non-homologous end-joining																													p.L243F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C727T	5						.						119.0	123.0	122.0					5																	82500722		2203	4300	6503	82536478	SO:0001583	missense	7518	exon6			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.727C>T	5.37:g.82500722C>T	ENSP00000421491:p.Leu243Phe	Somatic		Capture	Illumina HiSeq	Phase_I	82536478	NM_022406	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172871	0.21704	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.43	-1.02	0.10135	.	0.634666	0.16162	N	0.226704	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B;B;B	0.17268	0.021;0.016;0.013	B;B;B	0.15484	0.005;0.013;0.008	T	0.31641	-0.9936	10	0.66056	D	0.02	-2.5025	5.8878	0.18892	0.0:0.4843:0.1578:0.3579	.	243;243;243	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	F	243	ENSP00000282268:L243F;ENSP00000342011:L243F;ENSP00000379344:L243F;ENSP00000421491:L243F	ENSP00000282268:L243F	L	+	1	0	XRCC4	82536478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	-0.484000	0.06763	-0.964000	0.02622	CTC		0.388	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	
VCAN	1462	broad.mit.edu	37	5	82833151	82833151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:82833151C>A	ENST00000265077.3	+	8	4894	c.4329C>A	c.(4327-4329)ttC>ttA	p.F1443L	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.F456L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1443	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.F1443L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTCAGAATTTCTCGGACAGCT	0.453																																					p.F456L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1368A	5						.						79.0	81.0	81.0					5																	82833151		2203	4300	6503	82868907	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4329C>A	5.37:g.82833151C>A	ENSP00000265077:p.Phe1443Leu	Somatic		Capture	Illumina HiSeq	Phase_I	82868907	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143143	0.57044	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86497	-2.05;-2.13;2.94	5.88	0.0528	0.14304	.	0.095883	0.46442	D	0.000285	D	0.82623	0.5077	M	0.72894	2.215	0.80722	D	1	P;P	0.51351	0.944;0.908	B;B	0.44108	0.441;0.256	T	0.75303	-0.3365	10	0.26408	T	0.33	.	5.2832	0.15686	0.0:0.3162:0.1455:0.5383	.	456;1443	P13611-2;P13611	.;CSPG2_HUMAN	L	1443;456;456	ENSP00000265077:F1443L;ENSP00000340062:F456L;ENSP00000426251:F456L	ENSP00000265077:F1443L	F	+	3	2	VCAN	82868907	1.000000	0.71417	0.988000	0.46212	0.948000	0.59901	1.066000	0.30604	-0.006000	0.14370	-0.142000	0.14014	TTC		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82835479	82835479	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:82835479A>G	ENST00000265077.3	+	8	7222	c.6657A>G	c.(6655-6657)gaA>gaG	p.E2219E	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.E1232E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2219	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2219E(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TACCAGCTGAACATGTAGTCA	0.373																																					p.E1232E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3696G	5						.						84.0	82.0	83.0					5																	82835479		2203	4300	6503	82871235	SO:0001819	synonymous_variant	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6657A>G	5.37:g.82835479A>G		Somatic		Capture	Illumina HiSeq	Phase_I	82871235	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82838084	82838084	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:82838084C>A	ENST00000265077.3	+	8	9827	c.9262C>A	c.(9262-9264)Cca>Aca	p.P3088T	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P2101T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3088	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P3088T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATCTATTTACCAGGTAAGAT	0.378																																					p.P2101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6301A	5						.						69.0	73.0	72.0					5																	82838084		2203	4300	6503	82873840	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9262C>A	5.37:g.82838084C>A	ENSP00000265077:p.Pro3088Thr	Somatic		Capture	Illumina HiSeq	Phase_I	82873840	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416731	0.62511	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.86230	-2.07;-2.09	5.9	2.59	0.31030	.	0.215254	0.33005	N	0.005390	T	0.81950	0.4931	L	0.34521	1.04	0.80722	D	1	D;P	0.54601	0.967;0.8	P;B	0.51657	0.676;0.177	T	0.76179	-0.3054	10	0.27785	T	0.31	.	5.1051	0.14779	0.1291:0.6122:0.1262:0.1326	.	2101;3088	P13611-2;P13611	.;CSPG2_HUMAN	T	3088;2101	ENSP00000265077:P3088T;ENSP00000340062:P2101T	ENSP00000265077:P3088T	P	+	1	0	VCAN	82873840	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	0.960000	0.29253	0.769000	0.33313	0.563000	0.77884	CCA		0.378	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
HAPLN1	1404	broad.mit.edu	37	5	82937400	82937400	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:82937400G>T	ENST00000274341.4	-	5	1830	c.980C>A	c.(979-981)cCt>cAt	p.P327H		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	327	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.P327H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AGCCTCAGTAGGACTGCAGCG	0.547																																					p.P327H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C980A	5						.						110.0	116.0	114.0					5																	82937400		2203	4300	6503	82973156	SO:0001583	missense	1404	exon5				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.980C>A	5.37:g.82937400G>T	ENSP00000274341:p.Pro327His	Somatic		Capture	Illumina HiSeq	Phase_I	82973156	NM_001884	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183515	0.38609	.	.	ENSG00000145681	ENST00000274341	T	0.29142	1.58	5.22	5.22	0.72569	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.50329	-0.8841	10	0.72032	D	0.01	.	19.1617	0.93535	0.0:0.0:1.0:0.0	.	327	P10915	HPLN1_HUMAN	H	327	ENSP00000274341:P327H	ENSP00000274341:P327H	P	-	2	0	HAPLN1	82973156	1.000000	0.71417	0.753000	0.31225	0.154000	0.21943	7.818000	0.86416	2.581000	0.87130	0.655000	0.94253	CCT		0.547	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884	
RASA1	5921	broad.mit.edu	37	5	86672712	86672712	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:86672712G>A	ENST00000274376.6	+	17	2763	c.2199G>A	c.(2197-2199)aaG>aaA	p.K733K	RASA1_ENST00000456692.2_Silent_p.K556K|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Silent_p.K567K|RASA1_ENST00000512763.1_Silent_p.K566K	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	733					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.K733K(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TACTGCAAAAGGAACTTCATG	0.353																																					p.K733K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2199A	5						.						118.0	110.0	113.0					5																	86672712		2203	4300	6503	86708468	SO:0001819	synonymous_variant	5921	exon17				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2199G>A	5.37:g.86672712G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86708468	NM_002890	B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	CCDS34200.1																																																																																				0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
CCNH	902	broad.mit.edu	37	5	86707075	86707075	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:86707075G>A	ENST00000256897.4	-	2	430	c.206C>T	c.(205-207)tCg>tTg	p.S69L	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000508855.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	69					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.S69L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CTTAAACACCGAACAGAATTC	0.378								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																													p.S69L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206T	5						.						162.0	151.0	155.0					5																	86707075		2203	4300	6503	86742831	SO:0001583	missense	902	exon2			U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.206C>T	5.37:g.86707075G>A	ENSP00000256897:p.Ser69Leu	Somatic		Capture	Illumina HiSeq	Phase_I	86742831	NM_001239	Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640283	0.47153	.	.	ENSG00000134480	ENST00000256897	T	0.16457	2.34	6.07	6.07	0.98685	Cyclin-like (3);	0.346386	0.33610	N	0.004723	T	0.13970	0.0338	L	0.38175	1.15	0.80722	D	1	P;P	0.50272	0.933;0.477	B;B	0.37692	0.256;0.139	T	0.03483	-1.1032	10	0.28530	T	0.3	-15.3413	15.3709	0.74564	0.0:0.0:0.8606:0.1393	.	69;16	P51946;E9PDB6	CCNH_HUMAN;.	L	69	ENSP00000256897:S69L	ENSP00000256897:S69L	S	-	2	0	CCNH	86742831	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	3.750000	0.55157	2.884000	0.98904	0.655000	0.94253	TCG		0.378	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239	
MEF2C	4208	broad.mit.edu	37	5	88027697	88027697	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:88027697C>T	ENST00000437473.2	-	7	1076	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	MEF2C_ENST00000340208.5_Missense_Mutation_p.R238Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R220Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R220Q|MEF2C_ENST00000510942.1_Missense_Mutation_p.R220Q|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000508569.1_Missense_Mutation_p.R220Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R172Q|MEF2C_ENST00000504921.2_Missense_Mutation_p.R220Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R218Q|MEF2C_ENST00000514015.1_Missense_Mutation_p.R220Q	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	220					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R218Q(1)|p.R220Q(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGTGAGTTTCGGGGATTGCC	0.398										HNSCC(66;0.2)																											p.R220Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G659A	5						.						73.0	71.0	71.0					5																	88027697		1852	4083	5935	88063453	SO:0001583	missense	4208	exon7			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.659G>A	5.37:g.88027697C>T	ENSP00000396219:p.Arg220Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88063453	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001343	0.93227	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.89485	0.11;0.14;0.14;0.11;0.11;0.14;-0.21;-0.17;-0.14;0.55;-2.26;-2.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	0.981;1.0;0.999;1.0	P;D;D;D	0.91635	0.498;0.95;0.974;0.999	D	0.93723	0.7034	10	0.56958	D	0.05	-3.9572	20.8794	0.99867	0.0:1.0:0.0:0.0	.	218;238;220;220	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	Q	238;218;220;220;220;220;220;220;220;172;218;218	ENSP00000340874:R238Q;ENSP00000389610:R218Q;ENSP00000421925:R220Q;ENSP00000426665:R220Q;ENSP00000396219:R220Q;ENSP00000422390:R220Q;ENSP00000425636:R220Q;ENSP00000423597:R220Q;ENSP00000424606:R220Q;ENSP00000441153:R172Q;ENSP00000423826:R218Q;ENSP00000423656:R218Q	ENSP00000340874:R238Q	R	-	2	0	MEF2C	88063453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA		0.398	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
GPR98	84059	broad.mit.edu	37	5	89992932	89992932	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:89992932G>T	ENST00000405460.2	+	34	8220	c.8124G>T	c.(8122-8124)caG>caT	p.Q2708H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2708	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Q2708H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTAGCTTTCAGACAGCTTCCA	0.393																																					p.Q2708H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8124T	5						.						155.0	147.0	149.0					5																	89992932		1878	4111	5989	90028688	SO:0001583	missense	84059	exon34			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8124G>T	5.37:g.89992932G>T	ENSP00000384582:p.Gln2708His	Somatic		Capture	Illumina HiSeq	Phase_I	90028688	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.995|4.995	0.184866|0.184866	0.09495|0.09495	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27256|.	1.68|.	5.93|5.93	1.82|1.82	0.25136|0.25136	.|.	0.045739|.	0.85682|.	D|.	0.000000|.	T|T	0.14830|0.14830	0.0358|0.0358	N|N	0.01168|0.01168	-0.975|-0.975	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.04593|0.04593	-1.0940|-1.0940	10|5	0.29301|.	T|.	0.29|.	.|.	4.211|4.211	0.10512|0.10512	0.2067:0.087:0.5619:0.1444|0.2067:0.087:0.5619:0.1444	.|.	2708;2708|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|I	2708|274	ENSP00000384582:Q2708H|.	ENSP00000296619:Q2708H|.	Q|R	+|+	3|2	2|0	GPR98|GPR98	90028688|90028688	0.997000|0.997000	0.39634|0.39634	0.994000|0.994000	0.49952|0.49952	0.986000|0.986000	0.74619|0.74619	0.389000|0.389000	0.20751|0.20751	0.429000|0.429000	0.26202|0.26202	-0.251000|-0.251000	0.11542|0.11542	CAG|AGA		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90008132	90008132	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:90008132A>G	ENST00000405460.2	+	42	9167	c.9071A>G	c.(9070-9072)tAt>tGt	p.Y3024C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3024	Calx-beta 21. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Y3024C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGAAAGGTATAAAAATGTC	0.328																																					p.Y3024C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9071G	5						.						41.0	36.0	37.0					5																	90008132		1797	4051	5848	90043888	SO:0001583	missense	84059	exon42			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9071A>G	5.37:g.90008132A>G	ENSP00000384582:p.Tyr3024Cys	Somatic		Capture	Illumina HiSeq	Phase_I	90043888	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.87|11.87	1.769055|1.769055	0.31320|0.31320	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27402	.|1.67	5.84|5.84	0.611|0.611	0.17586|0.17586	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.446560	.|0.27941	.|N	.|0.017228	T|T	0.32194|0.32194	0.0821|0.0821	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46656	.|0.882;0.828	.|P;P	.|0.49477	.|0.612;0.526	T|T	0.06197|0.06197	-1.0840|-1.0840	5|10	.|0.46703	.|T	.|0.11	.|.	3.3443|3.3443	0.07129|0.07129	0.5788:0.1185:0.0643:0.2385|0.5788:0.1185:0.0643:0.2385	.|.	.|3024;3024	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|C	590|3024	.|ENSP00000384582:Y3024C	.|ENSP00000296619:Y3024C	I|Y	+|+	1|2	0|0	GPR98|GPR98	90043888|90043888	0.985000|0.985000	0.35326|0.35326	0.948000|0.948000	0.38648|0.38648	0.214000|0.214000	0.24535|0.24535	2.375000|2.375000	0.44283|0.44283	-0.112000|-0.112000	0.11979|0.11979	-0.444000|-0.444000	0.05651|0.05651	ATA|TAT		0.328	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ARRDC3	57561	broad.mit.edu	37	5	90669955	90669955	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:90669955A>C	ENST00000265138.3	-	6	1275	c.1009T>G	c.(1009-1011)Tta>Gta	p.L337V	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	337					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.L337V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGAAGTGATAAACTGAGCCAG	0.358																																					p.L337V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1009G	5						.						192.0	190.0	190.0					5																	90669955		2203	4300	6503	90705711	SO:0001583	missense	57561	exon6			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1009T>G	5.37:g.90669955A>C	ENSP00000265138:p.Leu337Val	Somatic		Capture	Illumina HiSeq	Phase_I	90705711	NM_020801	A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003833	0.35320	.	.	ENSG00000113369	ENST00000265138	T	0.07114	3.22	5.77	0.659	0.17861	Immunoglobulin E-set (1);	0.177672	0.48286	D	0.000197	T	0.05410	0.0143	L	0.38175	1.15	0.41943	D	0.990627	B	0.06786	0.001	B	0.04013	0.001	T	0.38394	-0.9663	10	0.29301	T	0.29	-11.9076	3.7784	0.08669	0.4379:0.0:0.3891:0.173	.	337	Q96B67	ARRD3_HUMAN	V	337	ENSP00000265138:L337V	ENSP00000265138:L337V	L	-	1	2	ARRDC3	90705711	1.000000	0.71417	0.709000	0.30452	0.847000	0.48162	0.948000	0.29096	0.118000	0.18165	0.528000	0.53228	TTA		0.358	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
KIAA0825	285600	broad.mit.edu	37	5	93856249	93856249	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:93856249C>A	ENST00000329378.7	-	5	923	c.674G>T	c.(673-675)tGg>tTg	p.W225L	KIAA0825_ENST00000312498.7_Missense_Mutation_p.W225L|KIAA0825_ENST00000427991.2_Missense_Mutation_p.W225L|KIAA0825_ENST00000513200.3_Missense_Mutation_p.W225L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	225								p.W225L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAAGCAGTTCCACAGAAGATT	0.313																																					p.W225L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G674T	5						.						88.0	94.0	92.0					5																	93856249		2203	4298	6501	93882005	SO:0001583	missense	285600	exon5			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.674G>T	5.37:g.93856249C>A	ENSP00000331385:p.Trp225Leu	Somatic		Capture	Illumina HiSeq	Phase_I	93882005	NM_001145678	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344934	0.11126	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.84516	1.03;1.03;-1.86;-1.86	5.51	3.11	0.35812	.	0.387325	0.27495	N	0.019102	T	0.70029	0.3177	N	0.08118	0	0.09310	N	0.999995	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.0	T	0.61347	-0.7081	10	0.62326	D	0.03	.	9.9711	0.41754	0.0:0.1383:0.0:0.8617	.	225;225	Q8IV33;Q8IV33-2	K0825_HUMAN;.	L	225	ENSP00000424618:W225L;ENSP00000400288:W225L;ENSP00000312205:W225L;ENSP00000331385:W225L	ENSP00000312205:W225L	W	-	2	0	KIAA0825	93882005	0.997000	0.39634	0.856000	0.33681	0.055000	0.15305	2.807000	0.47955	0.383000	0.24910	-1.288000	0.01363	TGG		0.313	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
CAST	831	broad.mit.edu	37	5	96075769	96075769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:96075769G>T	ENST00000341926.3	+	10	739	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	CAST_ENST00000338252.3_Nonsense_Mutation_p.E193*|CAST_ENST00000510756.1_Nonsense_Mutation_p.E254*|CAST_ENST00000511782.1_Nonsense_Mutation_p.E179*|CAST_ENST00000508608.1_Nonsense_Mutation_p.E239*|CAST_ENST00000325674.7_Nonsense_Mutation_p.E254*|CAST_ENST00000504465.1_Nonsense_Mutation_p.E121*|CAST_ENST00000508830.1_Nonsense_Mutation_p.E276*|CAST_ENST00000359176.4_Nonsense_Mutation_p.E257*|CAST_ENST00000509903.1_Nonsense_Mutation_p.E171*|CAST_ENST00000395813.1_Nonsense_Mutation_p.E276*|CAST_ENST00000508579.1_5'Flank|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000395812.2_Nonsense_Mutation_p.E235*|CAST_ENST00000511049.1_Nonsense_Mutation_p.E179*|CAST_ENST00000309190.5_Nonsense_Mutation_p.E171*			P20810	ICAL_HUMAN	calpastatin	193					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.E171*(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CTACATAGAGGAATTGGGTAA	0.318																																					p.E171X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G511T	5						.						48.0	48.0	48.0					5																	96075769		2202	4292	6494	96101525	SO:0001587	stop_gained	831	exon9			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.577G>T	5.37:g.96075769G>T	ENSP00000339914:p.Glu193*	Somatic		Capture	Illumina HiSeq	Phase_I	96101525	NM_173060	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Nonsense_Mutation	SNP	ENST00000341926.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792729|4.792729	0.90453|0.90453	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508197|ENST00000512620	.|.	.|.	.|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.237755|.	0.41500|.	D|.	0.000870|.	.|T	.|0.63931	.|0.2553	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71334	.|-0.4624	.|3	0.12430|.	T|.	0.62|.	-19.0401|-19.0401	12.8976|12.8976	0.58108|0.58108	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	.|.	.|.	.|.	X|S	271;193;276;254;276;257;254;235;257;254;239;193;179;171;193;121;171;179;144|209	.|.	ENSP00000312523:E171X|.	E|R	+|+	1|3	0|2	CAST|CAST	96101525|96101525	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.730000|0.730000	0.41778|0.41778	3.051000|3.051000	0.49885|0.49885	1.591000|1.591000	0.50007|0.50007	-0.123000|-0.123000	0.14984|0.14984	GAA|AGG		0.318	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	
LIX1	167410	broad.mit.edu	37	5	96430580	96430580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:96430580C>A	ENST00000274382.4	-	6	1016	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	241								p.E241*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		AACCGTAGTTCTTGTCCTGCT	0.498																																					p.E241X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G721T	5						.						122.0	123.0	122.0					5																	96430580		2203	4300	6503	96456336	SO:0001587	stop_gained	167410	exon6				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.721G>T	5.37:g.96430580C>A	ENSP00000274382:p.Glu241*	Somatic		Capture	Illumina HiSeq	Phase_I	96456336	NM_153234	A8K4R9|Q8N7I2	Nonsense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	C	39	7.822489	0.98510	.	.	ENSG00000145721	ENST00000274382	.	.	.	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8621	15.2628	0.73637	0.0:0.9313:0.0:0.0687	.	.	.	.	X	241	.	ENSP00000274382:E241X	E	-	1	0	LIX1	96456336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.111000	0.57838	2.832000	0.97577	0.655000	0.94253	GAA		0.498	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	
CHD1	1105	broad.mit.edu	37	5	98192385	98192385	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:98192385C>A	ENST00000284049.3	-	35	4981	c.4832G>T	c.(4831-4833)aGg>aTg	p.R1611M		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1611					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R1611M(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCTCTACTCCTGTGATCATC	0.348																																					p.R1611M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4832T	5						.						96.0	90.0	92.0					5																	98192385		2203	4300	6503	98220285	SO:0001583	missense	1105	exon35			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4832G>T	5.37:g.98192385C>A	ENSP00000284049:p.Arg1611Met	Somatic		Capture	Illumina HiSeq	Phase_I	98220285	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930343	0.34096	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90563	-2.69	5.55	5.55	0.83447	.	0.000000	0.37348	U	0.002126	D	0.90741	0.7094	L	0.59436	1.845	0.46564	D	0.999104	P	0.50943	0.94	P	0.44732	0.459	D	0.91533	0.5244	10	0.62326	D	0.03	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	1611	O14646	CHD1_HUMAN	M	201;1611	ENSP00000284049:R1611M	ENSP00000284049:R1611M	R	-	2	0	CHD1	98220285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.171000	0.58236	2.601000	0.87937	0.655000	0.94253	AGG		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
CHD1	1105	broad.mit.edu	37	5	98209302	98209302	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:98209302C>T	ENST00000284049.3	-	25	3715	c.3566G>A	c.(3565-3567)cGa>cAa	p.R1189Q	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1189					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R1189Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTTACCTGTTCGTTCTGTTCC	0.313																																					p.R1189Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3566A	5						.						119.0	109.0	112.0					5																	98209302		2203	4299	6502	98237202	SO:0001583	missense	1105	exon25			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3566G>A	5.37:g.98209302C>T	ENSP00000284049:p.Arg1189Gln	Somatic		Capture	Illumina HiSeq	Phase_I	98237202	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112087	0.56398	.	.	ENSG00000153922	ENST00000284049	D	0.89343	-2.5	5.03	5.03	0.67393	.	0.914180	0.08595	U	0.922368	D	0.85678	0.5752	L	0.27053	0.805	0.51233	D	0.999918	B	0.18968	0.032	B	0.17433	0.018	T	0.72117	-0.4387	10	0.44086	T	0.13	.	19.2322	0.93845	0.0:1.0:0.0:0.0	.	1189	O14646	CHD1_HUMAN	Q	1189	ENSP00000284049:R1189Q	ENSP00000284049:R1189Q	R	-	2	0	CHD1	98237202	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.129000	0.57957	2.718000	0.92993	0.491000	0.48974	CGA		0.313	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
TRIM52	84851	broad.mit.edu	37	5	180687286	180687286	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr5:180687286G>T	ENST00000327767.4	-	1	833	c.529C>A	c.(529-531)Ctt>Att	p.L177I	TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	177					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L177I(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TGCCCTGGAAGGGGCAAGGAA	0.527																																					p.L177I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529A	5						.						137.0	116.0	123.0					5																	180687286		2203	4300	6503	180619892	SO:0001583	missense	84851	exon1				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.529C>A	5.37:g.180687286G>T	ENSP00000332152:p.Leu177Ile	Somatic		Capture	Illumina HiSeq	Phase_I	180619892	NM_032765		Missense_Mutation	SNP	ENST00000327767.4	37	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	7.821	0.717746	0.15372	.	.	ENSG00000183718	ENST00000327767	T	0.22743	1.94	3.24	0.0895	0.14460	Zinc finger, RING-type (1);	.	.	.	.	T	0.13157	0.0319	L	0.36672	1.1	0.09310	N	1	B	0.25904	0.137	B	0.20384	0.029	T	0.30822	-0.9965	8	.	.	.	.	4.8107	0.13342	0.229:0.1789:0.5921:0.0	.	177	Q96A61	TRI52_HUMAN	I	177	ENSP00000332152:L177I	.	L	-	1	0	TRIM52	180619892	0.815000	0.29118	0.000000	0.03702	0.386000	0.30323	3.069000	0.50026	-0.124000	0.11724	0.205000	0.17691	CTT		0.527	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765	
USP45	85015	broad.mit.edu	37	6	99893889	99893889	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:99893889A>C	ENST00000327681.6	-	14	2291	c.1759T>G	c.(1759-1761)Tta>Gta	p.L587V	USP45_ENST00000500704.2_Missense_Mutation_p.L587V|USP45_ENST00000392738.2_Missense_Mutation_p.L267V|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.L539V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	587	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L587V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AAAAAACATAAATTATTTGAA	0.353																																					p.L587V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1759G	6						.						35.0	39.0	38.0					6																	99893889		2202	4300	6502	100000610	SO:0001583	missense	85015	exon14			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1759T>G	6.37:g.99893889A>C	ENSP00000333376:p.Leu587Val	Somatic		Capture	Illumina HiSeq	Phase_I	100000610	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092817	0.36952	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.17691	2.26;3.78;3.78;3.73	5.56	3.11	0.35812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.684102	0.13118	N	0.412412	T	0.02119	0.0066	N	0.08118	0	0.19575	N	0.999964	B;B	0.20052	0.006;0.041	B;B	0.17433	0.005;0.018	T	0.48547	-0.9026	10	0.13470	T	0.59	.	8.4545	0.32890	0.7994:0.1318:0.0687:0.0	.	587;267	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	V	267;587;587;539	ENSP00000376495:L267V;ENSP00000424372:L587V;ENSP00000333376:L587V;ENSP00000358236:L539V	ENSP00000333376:L587V	L	-	1	2	USP45	100000610	0.526000	0.26298	0.000000	0.03702	0.907000	0.53573	3.160000	0.50739	0.372000	0.24591	0.533000	0.62120	TTA		0.353	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
SIM1	6492	broad.mit.edu	37	6	100838365	100838365	+	Missense_Mutation	SNP	C	C	T	rs540345980	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:100838365C>T	ENST00000369208.3	-	12	2955	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	SIM1_ENST00000262901.4_Missense_Mutation_p.E725K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	725	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E725K(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTAATGGTTTCGCTGTCATAT	0.468													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19056	0.0		0.0	False		,,,				2504	0.0				p.E725K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2173A	6						.						163.0	150.0	155.0					6																	100838365		2203	4300	6503	100945086	SO:0001583	missense	6492	exon11			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2173G>A	6.37:g.100838365C>T	ENSP00000358210:p.Glu725Lys	Somatic		Capture	Illumina HiSeq	Phase_I	100945086	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112563	0.77210	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04970	3.52;3.52	6.1	6.1	0.99115	Single-minded, C-terminal (1);	0.332212	0.39083	N	0.001479	T	0.03305	0.0096	N	0.24115	0.695	0.80722	D	1	P	0.50943	0.94	B	0.38264	0.269	T	0.48364	-0.9042	10	0.72032	D	0.01	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	725	P81133	SIM1_HUMAN	K	725	ENSP00000358210:E725K;ENSP00000262901:E725K	ENSP00000262901:E725K	E	-	1	0	SIM1	100945086	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	GAA		0.468	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
ASCC3	10973	broad.mit.edu	37	6	100957860	100957860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:100957860G>A	ENST00000369162.2	-	41	6753	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2137	SEC63 2.				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)	p.R2137*(1)		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)		TGATGATTTCGAATATATCCT	0.343																																					p.R2137X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6409T	6						.						157.0	174.0	168.0					6																	100957860		2203	4300	6503	101064581	SO:0001587	stop_gained	10973	exon41			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.6409C>T	6.37:g.100957860G>A	ENSP00000358159:p.Arg2137*	Somatic		Capture	Illumina HiSeq	Phase_I	101064581	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	49	15.395503	0.99832	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.75	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1271	0.72493	0.0:0.0:0.6684:0.3316	.	.	.	.	X	2137	.	ENSP00000358159:R2137X	R	-	1	2	ASCC3	101064581	1.000000	0.71417	0.996000	0.52242	0.830000	0.47004	1.395000	0.34520	1.507000	0.48752	0.650000	0.86243	CGA		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ATG5	9474	broad.mit.edu	37	6	106634450	106634450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:106634450G>T	ENST00000369076.3	-	8	1116	c.793C>A	c.(793-795)Ctt>Att	p.L265I	ATG5_ENST00000343245.3_Missense_Mutation_p.L265I|ATG5_ENST00000360666.4_3'UTR|ATG5_ENST00000369070.1_Missense_Mutation_p.L187I|ATG5_ENST00000475645.1_5'UTR	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	265					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.L265I(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CTAATATGAAGAAAATTATCC	0.403																																					p.L265I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793A	6						.						143.0	141.0	142.0					6																	106634450		2203	4300	6503	106741143	SO:0001583	missense	9474	exon8			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.793C>A	6.37:g.106634450G>T	ENSP00000358072:p.Leu265Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106741143	NM_004849	O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127375	0.77549	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	5.87	5.87	0.94306	.	0.133755	0.51477	D	0.000088	T	0.73241	0.3562	M	0.78344	2.41	0.80722	D	1	P;P	0.50710	0.938;0.766	P;P	0.56563	0.801;0.609	T	0.73142	-0.4076	9	0.51188	T	0.08	-6.8253	20.2181	0.98305	0.0:0.0:1.0:0.0	.	187;265	Q9H1Y0-2;Q9H1Y0	.;ATG5_HUMAN	I	265;265;187	.	ENSP00000343313:L265I	L	-	1	0	ATG5	106741143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.785000	0.95823	0.655000	0.94253	CTT		0.403	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849	
GCNT2	2651	broad.mit.edu	37	6	10626791	10626791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:10626791G>T	ENST00000379597.3	+	3	1716	c.1160G>T	c.(1159-1161)aGa>aTa	p.R387I	GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000495262.1_Missense_Mutation_p.R387I|GCNT2_ENST00000316170.3_Missense_Mutation_p.R385I|GCNT2_ENST00000265012.4_Missense_Mutation_p.R387I|GCNT2_ENST00000410107.1_Missense_Mutation_p.R101I			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	387					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R387I(2)|p.R385I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CATCGCGAAAGAACCCTCAAT	0.453																																					p.R387I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1160T	6						.						108.0	100.0	103.0					6																	10626791		2203	4300	6503	10734777	SO:0001583	missense	2651	exon3			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.1160G>T	6.37:g.10626791G>T	ENSP00000368917:p.Arg387Ile	Somatic		Capture	Illumina HiSeq	Phase_I	10734777	NM_145655		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802077	0.90538	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.50813	0.73;2.71;2.71;2.67;2.67	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.66396	0.2785	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.77557	0.99;0.981;0.99;0.979	T	0.70342	-0.4898	10	0.87932	D	0	-16.1031	19.0152	0.92890	0.0:0.0:1.0:0.0	.	387;101;387;385	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	I	101;387;387;385;387	ENSP00000386321:R101I;ENSP00000419411:R387I;ENSP00000368917:R387I;ENSP00000314844:R385I;ENSP00000265012:R387I	ENSP00000265012:R387I	R	+	2	0	GCNT2	10734777	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	6.163000	0.71880	2.577000	0.86979	0.585000	0.79938	AGA		0.453	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
ATG5	9474	broad.mit.edu	37	6	106764068	106764068	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:106764068C>A	ENST00000369076.3	-	2	339	c.16G>T	c.(16-18)Gat>Tat	p.D6Y	ATG5_ENST00000343245.3_Missense_Mutation_p.D6Y|ATG5_ENST00000360666.4_Missense_Mutation_p.D6Y|ATG5_ENST00000369070.1_5'UTR	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	6					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.D6Y(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CGAAGCACATCTTTGTCATCT	0.378																																					p.D6Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16T	6						.						203.0	184.0	190.0					6																	106764068		2203	4300	6503	106870761	SO:0001583	missense	9474	exon2			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.16G>T	6.37:g.106764068C>A	ENSP00000358072:p.Asp6Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	106870761	NM_004849	O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067171	0.76301	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;P;P	0.68943	0.961;0.894;0.894	T	0.73675	-0.3908	9	0.87932	D	0	-0.0325	13.7184	0.62712	0.0:0.9252:0.0:0.0748	.	6;6;6	Q7Z3H3;A9UGY9;Q9H1Y0	.;.;ATG5_HUMAN	Y	6	.	ENSP00000343313:D6Y	D	-	1	0	ATG5	106870761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	1.159000	0.42565	0.655000	0.94253	GAT		0.378	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849	
SOBP	55084	broad.mit.edu	37	6	107827547	107827547	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:107827547G>T	ENST00000317357.5	+	3	996	c.337G>T	c.(337-339)Gac>Tac	p.D113Y		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.D113Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGGACTCAGTGACTCACCTGC	0.443																																					p.D113Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337T	6						.						212.0	203.0	206.0					6																	107827547		1916	4141	6057	107934240	SO:0001583	missense	55084	exon3			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.337G>T	6.37:g.107827547G>T	ENSP00000318900:p.Asp113Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	107934240	NM_018013		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617941	0.87359	.	.	ENSG00000112320	ENST00000317357	T	0.13089	2.62	5.24	5.24	0.73138	.	0.227207	0.27936	U	0.017259	T	0.13372	0.0324	N	0.14661	0.345	0.53688	D	0.999975	D	0.63880	0.993	P	0.59487	0.858	T	0.16394	-1.0404	10	0.72032	D	0.01	-17.1833	19.1981	0.93698	0.0:0.0:1.0:0.0	.	113	A7XYQ1	SOBP_HUMAN	Y	113	ENSP00000318900:D113Y	ENSP00000318900:D113Y	D	+	1	0	SOBP	107934240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.103000	0.94232	2.615000	0.88500	0.655000	0.94253	GAC		0.443	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013	
ARMC2	84071	broad.mit.edu	37	6	109225558	109225558	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:109225558G>T	ENST00000392644.4	+	8	1141	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	ARMC2_ENST00000368972.3_Missense_Mutation_p.D160Y	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	325								p.D318Y(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAAACTAGTTGATGTTGGTTC	0.368																																					p.D325Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973T	6						.						164.0	163.0	163.0					6																	109225558		2203	4300	6503	109332251	SO:0001583	missense	84071	exon8			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.973G>T	6.37:g.109225558G>T	ENSP00000376417:p.Asp325Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	109332251	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305971	0.81247	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.39997	1.05;1.06	5.93	5.93	0.95920	.	0.043420	0.85682	D	0.000000	T	0.64283	0.2584	M	0.80183	2.485	0.54753	D	0.999982	D	0.89917	1.0	D	0.72625	0.978	T	0.66925	-0.5800	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	325	Q8NEN0	ARMC2_HUMAN	Y	160;325	ENSP00000357968:D160Y;ENSP00000376417:D325Y	ENSP00000357968:D160Y	D	+	1	0	ARMC2	109332251	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.118000	0.77137	2.798000	0.96311	0.655000	0.94253	GAT		0.368	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
FIG4	9896	broad.mit.edu	37	6	110110820	110110820	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:110110820G>T	ENST00000230124.3	+	19	2244	c.2120G>T	c.(2119-2121)gGa>gTa	p.G707V	FIG4_ENST00000441478.2_Missense_Mutation_p.G430V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	707					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.G707V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGACCGTTGGAATTGATCCA	0.363																																					p.G707V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2120T	6						.						143.0	125.0	131.0					6																	110110820		2203	4300	6503	110217513	SO:0001583	missense	9896	exon19			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2120G>T	6.37:g.110110820G>T	ENSP00000230124:p.Gly707Val	Somatic		Capture	Illumina HiSeq	Phase_I	110217513	NM_014845	Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550549	0.45383	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	T;T	0.52526	1.93;0.66	5.68	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	N	0.24115	0.695	0.80722	D	1	P;P	0.52842	0.956;0.73	P;B	0.51016	0.656;0.093	T	0.06698	-1.0812	10	0.32370	T	0.25	-21.0678	10.0317	0.42105	0.0718:0.1376:0.7905:0.0	.	430;707	F5H8L9;Q92562	.;FIG4_HUMAN	V	430;707;14	ENSP00000399443:G430V;ENSP00000230124:G707V	ENSP00000230124:G707V	G	+	2	0	FIG4	110217513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.126000	0.64721	1.419000	0.47118	0.655000	0.94253	GGA		0.363	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845	
REV3L	5980	broad.mit.edu	37	6	111688583	111688583	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:111688583G>T	ENST00000358835.3	-	15	6862	c.6408C>A	c.(6406-6408)tcC>tcA	p.S2136S	REV3L_ENST00000368805.1_Silent_p.S2136S|REV3L_ENST00000368802.3_Silent_p.S2136S|REV3L_ENST00000435970.1_Silent_p.S2058S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2136					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S2058S(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTAATGCTTTGGAATCTGGGG	0.393								DNA polymerases (catalytic subunits)																													p.S2136S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6408A	6						.						111.0	110.0	111.0					6																	111688583		2203	4300	6503	111795276	SO:0001819	synonymous_variant	5980	exon14			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6408C>A	6.37:g.111688583G>T		Somatic		Capture	Illumina HiSeq	Phase_I	111795276	NM_002912	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																				0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
WISP3	8838	broad.mit.edu	37	6	112386127	112386127	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:112386127G>T	ENST00000368666.2	+	3	802	c.516G>T	c.(514-516)aaG>aaT	p.K172N	WISP3_ENST00000230529.5_Missense_Mutation_p.K172N|WISP3_ENST00000368663.3_Missense_Mutation_p.K149N|WISP3_ENST00000361714.1_Missense_Mutation_p.K190N|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000604763.1_Missense_Mutation_p.K172N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	172					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.K190N(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AAGGTGGAAAGAAGTCTGATC	0.483																																					p.K190N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G570T	6						.						131.0	123.0	125.0					6																	112386127		2203	4300	6503	112492820	SO:0001583	missense	8838	exon3			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.516G>T	6.37:g.112386127G>T	ENSP00000357655:p.Lys172Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112492820	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343004	0.41498	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.80304	-1.34;-1.34;-1.36;-1.34	5.44	3.55	0.40652	.	0.979822	0.08386	N	0.953747	T	0.55545	0.1927	L	0.28458	0.855	0.27749	N	0.944221	B;B	0.13145	0.005;0.007	B;B	0.13407	0.009;0.005	T	0.47849	-0.9085	10	0.51188	T	0.08	-0.0597	7.6716	0.28462	0.1433:0.1424:0.7143:0.0	.	190;172	O95389-2;O95389	.;WISP3_HUMAN	N	172;172;190;172;149	ENSP00000357655:K172N;ENSP00000230529:K172N;ENSP00000354734:K190N;ENSP00000357652:K149N	ENSP00000230529:K172N	K	+	3	2	WISP3	112492820	1.000000	0.71417	0.968000	0.41197	0.882000	0.50991	1.171000	0.31896	2.716000	0.92895	0.555000	0.69702	AAG		0.483	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
WISP3	8838	broad.mit.edu	37	6	112389575	112389575	+	Missense_Mutation	SNP	G	G	A	rs140750750		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:112389575G>A	ENST00000368666.2	+	4	1043	c.757G>A	c.(757-759)Gac>Aac	p.D253N	WISP3_ENST00000230529.5_Missense_Mutation_p.D253N|WISP3_ENST00000368663.3_Missense_Mutation_p.D230N|WISP3_ENST00000361714.1_Missense_Mutation_p.D271N|WISP3_ENST00000409166.1_Missense_Mutation_p.D29N|TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000604763.1_Missense_Mutation_p.D253N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	253	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.D271N(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCAGCCTTGCGACAGCAATAT	0.338																																					p.D271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	6						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	52.0	49.0	50.0		757,811	-0.4	0.1	6	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WISP3	NM_003880.3,NM_198239.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	253/355,271/373	112389575	1,13005	2203	4300	6503	112496268	SO:0001583	missense	8838	exon4			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.757G>A	6.37:g.112389575G>A	ENSP00000357655:p.Asp253Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112496268	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039799	0.19669	0.0	1.16E-4	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000541491;ENST00000361714;ENST00000368663;ENST00000409166	T;T;T;T;T	0.81247	-1.21;-1.21;-1.21;-1.21;-1.47	5.8	-0.436	0.12275	.	0.693618	0.15555	N	0.256205	T	0.54208	0.1844	L	0.49126	1.545	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.11329	0.006;0.001	T	0.50709	-0.8796	10	0.39692	T	0.17	-23.0997	8.514	0.33235	0.3958:0.105:0.4991:0.0	.	271;253	O95389-2;O95389	.;WISP3_HUMAN	N	253;253;29;271;230;29	ENSP00000357655:D253N;ENSP00000230529:D253N;ENSP00000354734:D271N;ENSP00000357652:D230N;ENSP00000386467:D29N	ENSP00000230529:D253N	D	+	1	0	WISP3	112496268	0.847000	0.29606	0.113000	0.21522	0.228000	0.25075	1.065000	0.30592	-0.326000	0.08564	-0.140000	0.14226	GAC		0.338	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
FAM229B	619208	broad.mit.edu	37	6	112421942	112421942	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:112421942A>G	ENST00000368656.2	+	4	492	c.195A>G	c.(193-195)acA>acG	p.T65T	FAM229B_ENST00000604268.1_Silent_p.T65T	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	65								p.T65T(1)									TTTATGCAACAACGAGAAAGC	0.448																																					p.T65T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A195G	6						.						137.0	115.0	122.0					6																	112421942		2203	4300	6503	112528635	SO:0001819	synonymous_variant	619208	exon4				CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 225"""	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.195A>G	6.37:g.112421942A>G		Somatic		Capture	Illumina HiSeq	Phase_I	112528635	NM_001033564	B8ZZ33	Silent	SNP	ENST00000368656.2	37	CCDS34513.1																																																																																				0.448	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041870.2	NM_001033564	
LAMA4	3910	broad.mit.edu	37	6	112451146	112451146	+	Silent	SNP	G	G	A	rs34753919	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:112451146G>A	ENST00000230538.7	-	30	4462	c.4065C>T	c.(4063-4065)ttC>ttT	p.F1355F	LAMA4_ENST00000389463.4_Silent_p.F1348F|LAMA4_ENST00000424408.2_Silent_p.F1348F|LAMA4_ENST00000522006.1_Silent_p.F1348F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1355	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.F1348F(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTGAGCCACCGAAGTAAAACT	0.363													G|||	63	0.0125799	0.0446	0.0058	5008	,	,		17880	0.0		0.0	False		,,,				2504	0.0				p.F1348F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4044T	6						.	G	,,	159,4245	106.9+/-145.3	2,155,2045	214.0	183.0	194.0		4065,4044,4044	0.9	1.0	6	dbSNP_126	194	9,8589	7.1+/-27.0	0,9,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	,,	2,164,6335	AA,AG,GG		0.1047,3.6104,1.2921	,,	1355/1824,1348/1817,1348/1817	112451146	168,12834	2202	4299	6501	112557839	SO:0001819	synonymous_variant	3910	exon30				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4065C>T	6.37:g.112451146G>A		Somatic		Capture	Illumina HiSeq	Phase_I	112557839	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
FAM26E	254228	broad.mit.edu	37	6	116836833	116836833	+	Missense_Mutation	SNP	G	G	A	rs539288012		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:116836833G>A	ENST00000368599.3	+	2	662	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	204					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R204Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GCTCGCTGCCGATCTAAAGTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		21748	0.001		0.0	False		,,,				2504	0.0				p.R204Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611A	6						.						152.0	152.0	152.0					6																	116836833		2203	4300	6503	116943526	SO:0001583	missense	254228	exon2			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.611G>A	6.37:g.116836833G>A	ENSP00000357588:p.Arg204Gln	Somatic		Capture	Illumina HiSeq	Phase_I	116943526	NM_153711	B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269502	0.23221	.	.	ENSG00000178033	ENST00000368599	T	0.17054	2.3	6.03	5.17	0.71159	.	0.259899	0.39407	N	0.001363	T	0.04679	0.0127	L	0.29908	0.895	0.39196	D	0.963052	P	0.37500	0.597	B	0.30495	0.116	T	0.34502	-0.9826	10	0.31617	T	0.26	-1.8359	10.6351	0.45560	0.1594:0.0:0.8406:0.0	.	204	Q8N5C1	FA26E_HUMAN	Q	204	ENSP00000357588:R204Q	ENSP00000357588:R204Q	R	+	2	0	FAM26E	116943526	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	4.055000	0.57441	1.561000	0.49584	-0.136000	0.14681	CGA		0.418	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711	
RSPH4A	345895	broad.mit.edu	37	6	116953394	116953394	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:116953394C>A	ENST00000229554.5	+	6	2078	c.1941C>A	c.(1939-1941)ggC>ggA	p.G647G	RSPH4A_ENST00000368581.4_3'UTR|RSPH4A_ENST00000368580.4_Silent_p.G400G	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	647					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.G647G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTACATAGGCTGGGGTCATA	0.338									Kartagener syndrome																												p.G647G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1941A	6						.						36.0	36.0	36.0					6																	116953394		2203	4300	6503	117060087	SO:0001819	synonymous_variant	345895	exon6	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1941C>A	6.37:g.116953394C>A		Somatic		Capture	Illumina HiSeq	Phase_I	117060087	NM_001010892	B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	CCDS34521.1																																																																																				0.338	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
GPRC6A	222545	broad.mit.edu	37	6	117116954	117116954	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117116954C>A	ENST00000310357.3	-	5	1614	c.1593G>T	c.(1591-1593)atG>atT	p.M531I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.M460I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.M356I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	531					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M531I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TAGTTTTCTTCATTTGCCCAG	0.323																																					p.M531I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1593T	6						.						178.0	157.0	164.0					6																	117116954		2203	4300	6503	117223647	SO:0001583	missense	222545	exon5			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1593G>T	6.37:g.117116954C>A	ENSP00000309493:p.Met531Ile	Somatic		Capture	Illumina HiSeq	Phase_I	117223647	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217515	0.22373	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	T;T;T	0.69435	-0.4;-0.4;-0.4	4.99	4.99	0.66335	GPCR, family 3, nine cysteines domain (1);	0.000000	0.64402	D	0.000001	T	0.44265	0.1285	N	0.20328	0.56	0.33506	D	0.590517	B;B;B	0.25007	0.059;0.111;0.116	B;B;B	0.28305	0.039;0.088;0.05	T	0.53201	-0.8472	10	0.87932	D	0	.	18.8083	0.92047	0.0:1.0:0.0:0.0	.	460;356;531	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	I	531;460;356	ENSP00000309493:M531I;ENSP00000357537:M460I;ENSP00000433465:M356I	ENSP00000309493:M531I	M	-	3	0	GPRC6A	117223647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.724000	0.38064	2.745000	0.94114	0.655000	0.94253	ATG		0.323	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
GPRC6A	222545	broad.mit.edu	37	6	117127550	117127550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117127550C>T	ENST00000310357.3	-	3	1339	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.A440T|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	440					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A440T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GGTTGAAAGGCGTTGGGGTTC	0.438																																					p.A440T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318A	6						.						92.0	82.0	85.0					6																	117127550		2203	4299	6502	117234243	SO:0001583	missense	222545	exon3			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1318G>A	6.37:g.117127550C>T	ENSP00000309493:p.Ala440Thr	Somatic		Capture	Illumina HiSeq	Phase_I	117234243	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205000	0.38905	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.85773	-1.6;-2.03	5.36	4.5	0.54988	Extracellular ligand-binding receptor (1);	0.243686	0.28635	N	0.014647	T	0.62270	0.2414	L	0.32530	0.975	0.80722	D	1	B;P	0.41784	0.09;0.762	B;B	0.34418	0.012;0.182	T	0.65841	-0.6070	10	0.13470	T	0.59	.	14.2861	0.66247	0.0:0.9288:0.0:0.0712	.	440;440	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	T	440	ENSP00000309493:A440T;ENSP00000357537:A440T	ENSP00000309493:A440T	A	-	1	0	GPRC6A	117234243	0.657000	0.27393	0.671000	0.29857	0.799000	0.45148	1.604000	0.36804	1.508000	0.48769	0.650000	0.86243	GCC		0.438	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
RFX6	222546	broad.mit.edu	37	6	117237431	117237431	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117237431C>A	ENST00000332958.2	+	9	942	c.926C>A	c.(925-927)cCt>cAt	p.P309H	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	309					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.P309H(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCGAAAATCCTGTTATCATT	0.348																																					p.P309H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926A	6						.						153.0	149.0	150.0					6																	117237431		2203	4300	6503	117344124	SO:0001583	missense	222546	exon9			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.926C>A	6.37:g.117237431C>A	ENSP00000332208:p.Pro309His	Somatic		Capture	Illumina HiSeq	Phase_I	117344124	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615249	0.66672	.	.	ENSG00000185002	ENST00000332958	T	0.60299	0.2	5.62	5.62	0.85841	.	0.054138	0.85682	D	0.000000	T	0.40297	0.1111	L	0.34521	1.04	0.58432	D	0.999999	P	0.45827	0.867	B	0.40228	0.323	T	0.45440	-0.9261	10	0.54805	T	0.06	-21.2857	19.6354	0.95731	0.0:1.0:0.0:0.0	.	309	Q8HWS3	RFX6_HUMAN	H	309	ENSP00000332208:P309H	ENSP00000332208:P309H	P	+	2	0	RFX6	117344124	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.733000	0.68571	2.641000	0.89580	0.591000	0.81541	CCT		0.348	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
RFX6	222546	broad.mit.edu	37	6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117245849C>T	ENST00000332958.2	+	15	1589	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388																																					p.R525X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1573T	6						.						134.0	128.0	130.0					6																	117245849		2203	4300	6503	117352542	SO:0001587	stop_gained	222546	exon15			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1573C>T	6.37:g.117245849C>T	ENSP00000332208:p.Arg525*	Somatic		Capture	Illumina HiSeq	Phase_I	117352542	NM_173560	Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000857	0.97189	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.32	4.43	0.53597	.	0.127580	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.989	13.7263	0.62761	0.0:0.9256:0.0:0.0743	.	.	.	.	X	525	.	ENSP00000332208:R525X	R	+	1	2	RFX6	117352542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.030000	0.41108	2.646000	0.89796	0.655000	0.94253	CGA		0.388	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	rs201446493		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		21160	0.0		0.001	False		,,,				2504	0.0				p.A561V												.	.	3	Substitution - Missense(3)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.C1682T	6						.						109.0	114.0	112.0					6																	117246619		2203	4300	6503	117353312	SO:0001583	missense	222546	exon16			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1682C>T	6.37:g.117246619C>T	ENSP00000332208:p.Ala561Val	Somatic		Capture	Illumina HiSeq	Phase_I	117353312	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.3	4.907150	0.92107	.	.	ENSG00000185002	ENST00000332958	T	0.58940	0.3	5.85	5.85	0.93711	.	0.101828	0.64402	D	0.000002	T	0.65729	0.2719	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.56396	-0.7986	10	0.23891	T	0.37	-18.1239	20.1775	0.98187	0.0:1.0:0.0:0.0	.	561	Q8HWS3	RFX6_HUMAN	V	561	ENSP00000332208:A561V	ENSP00000332208:A561V	A	+	2	0	RFX6	117353312	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.595000	0.61048	2.771000	0.95319	0.561000	0.74099	GCG		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
ROS1	6098	broad.mit.edu	37	6	117706936	117706936	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117706936C>A	ENST00000368508.3	-	15	2412	c.2214G>T	c.(2212-2214)gaG>gaT	p.E738D	ROS1_ENST00000368507.3_Missense_Mutation_p.E733D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	738					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E738D(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTGATAATTCTCTGAGATAT	0.458			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.E738D			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2214T	6						.						140.0	122.0	128.0					6																	117706936		2203	4300	6503	117813629	SO:0001583	missense	6098	exon15			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2214G>T	6.37:g.117706936C>A	ENSP00000357494:p.Glu738Asp	Somatic		Capture	Illumina HiSeq	Phase_I	117813629	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790077	0.50102	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91068	-2.78;-2.78	5.37	3.58	0.41010	.	0.081827	0.52532	D	0.000078	T	0.79131	0.4394	L	0.27053	0.805	0.80722	D	1	P	0.52316	0.952	P	0.46885	0.53	T	0.78383	-0.2225	10	0.41790	T	0.15	.	8.6746	0.34172	0.0:0.768:0.0:0.232	.	738	P08922	ROS1_HUMAN	D	738;733	ENSP00000357494:E738D;ENSP00000357493:E733D	ENSP00000357493:E733D	E	-	3	2	ROS1	117813629	0.768000	0.28519	0.769000	0.31535	0.887000	0.51463	1.526000	0.35964	0.825000	0.34637	0.655000	0.94253	GAG		0.458	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117710702	117710702	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117710702A>G	ENST00000368508.3	-	12	1768	c.1570T>C	c.(1570-1572)Tct>Cct	p.S524P	ROS1_ENST00000368507.3_Missense_Mutation_p.S533P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	524					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S524P(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCATTAAAAGACAAAGCATCC	0.438			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.S524P			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1570C	6						.						100.0	103.0	102.0					6																	117710702		2203	4300	6503	117817395	SO:0001583	missense	6098	exon12			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1570T>C	6.37:g.117710702A>G	ENSP00000357494:p.Ser524Pro	Somatic		Capture	Illumina HiSeq	Phase_I	117817395	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252018	0.59212	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71817	-0.58;-0.6	5.53	3.21	0.36854	.	0.407112	0.23764	N	0.044797	T	0.39332	0.1074	L	0.29908	0.895	0.58432	D	0.999995	B	0.26081	0.141	B	0.27076	0.076	T	0.48570	-0.9024	10	0.49607	T	0.09	.	4.8591	0.13573	0.6678:0.1888:0.1434:0.0	.	524	P08922	ROS1_HUMAN	P	524;533	ENSP00000357494:S524P;ENSP00000357493:S533P	ENSP00000357493:S533P	S	-	1	0	ROS1	117817395	0.161000	0.22892	0.988000	0.46212	0.997000	0.91878	1.328000	0.33758	2.105000	0.64084	0.459000	0.35465	TCT		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117715837	117715837	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117715837T>A	ENST00000368508.3	-	9	1119	c.921A>T	c.(919-921)aaA>aaT	p.K307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K316N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	307					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K307N(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTACTAAATGTTTTAAAGATC	0.343			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.K307N			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A921T	6						.						77.0	80.0	79.0					6																	117715837		2203	4300	6503	117822530	SO:0001583	missense	6098	exon9			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.921A>T	6.37:g.117715837T>A	ENSP00000357494:p.Lys307Asn	Somatic		Capture	Illumina HiSeq	Phase_I	117822530	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364862	0.61513	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90955	-2.76;-2.76	5.03	-1.26	0.09376	.	0.087591	0.49916	D	0.000127	T	0.78407	0.4278	L	0.28274	0.84	0.43673	D	0.996101	P	0.47409	0.895	P	0.47044	0.535	T	0.74925	-0.3498	10	0.37606	T	0.19	.	11.1003	0.48170	0.0:0.4507:0.0:0.5493	.	307	P08922	ROS1_HUMAN	N	307;316	ENSP00000357494:K307N;ENSP00000357493:K316N	ENSP00000357493:K316N	K	-	3	2	ROS1	117822530	0.019000	0.18553	0.820000	0.32676	0.975000	0.68041	-0.155000	0.10115	-0.089000	0.12484	0.528000	0.53228	AAA		0.343	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
DCBLD1	285761	broad.mit.edu	37	6	117841104	117841104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:117841104G>A	ENST00000338728.5	+	3	571	c.451G>A	c.(451-453)Gac>Aac	p.D151N	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D151N|DCBLD1_ENST00000368503.4_Missense_Mutation_p.D151N			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	151					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D151N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TGCGAGCAGCGACCATCCAGG	0.453																																					p.D151N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	6						.						105.0	98.0	101.0					6																	117841104		2203	4300	6503	117947797	SO:0001583	missense	285761	exon3			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.451G>A	6.37:g.117841104G>A	ENSP00000342422:p.Asp151Asn	Somatic		Capture	Illumina HiSeq	Phase_I	117947797	NM_173674	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37		.	.	.	.	.	.	.	.	.	.	G	14.33	2.503944	0.44558	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	D;T;D	0.92495	-3.05;1.06;-3.01	5.59	5.59	0.84812	CUB (1);LCCL (1);	0.404011	0.30428	N	0.009660	D	0.84633	0.5515	L	0.46157	1.445	0.27281	N	0.958103	P;P	0.52577	0.938;0.954	B;B	0.40602	0.334;0.23	T	0.81143	-0.1067	10	0.38643	T	0.18	-31.2696	16.5037	0.84263	0.0:0.0:1.0:0.0	.	151;151	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	N	151	ENSP00000296955:D151N;ENSP00000357489:D151N;ENSP00000342422:D151N	ENSP00000296955:D151N	D	+	1	0	DCBLD1	117947797	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	6.232000	0.72313	2.638000	0.89438	0.467000	0.42956	GAC		0.453	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674	
CEP85L	387119	broad.mit.edu	37	6	118805006	118805006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:118805006G>A	ENST00000368491.3	-	7	2074	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	CEP85L_ENST00000368488.5_Nonsense_Mutation_p.R488*	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	485						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R485*(1)									CTGATGTATCGATCTCTAGTT	0.323																																					p.R488X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1462T	6						.						146.0	123.0	131.0					6																	118805006		1817	4079	5896	118911699	SO:0001587	stop_gained	387119	exon8			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1453C>T	6.37:g.118805006G>A	ENSP00000357477:p.Arg485*	Somatic		Capture	Illumina HiSeq	Phase_I	118911699	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Nonsense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349474	0.95830	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	.	.	.	5.66	4.51	0.55191	.	0.048947	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-21.3187	12.5149	0.56026	0.0:0.0:0.2928:0.7071	.	.	.	.	X	485;488;488	.	ENSP00000357474:R488X	R	-	1	2	C6orf204	118911699	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.054000	0.41335	0.988000	0.38734	-0.410000	0.06199	CGA		0.323	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475	
ASF1A	25842	broad.mit.edu	37	6	119228684	119228684	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:119228684C>A	ENST00000229595.5	+	4	714	c.520C>A	c.(520-522)Ctt>Att	p.L174I	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	174	Required for interaction with HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)	p.L174I(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		ACAGTCACTTCTTTCAACAGA	0.423																																					p.S138Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413A	6						.						118.0	107.0	110.0					6																	119228684		1905	4116	6021	119270383	SO:0001583	missense	25842	exon3			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.520C>A	6.37:g.119228684C>A	ENSP00000229595:p.Leu174Ile	Somatic		Capture	Illumina HiSeq	Phase_I	119270383	NM_014034	Q6IA08|Q9P014	Missense_Mutation	SNP	ENST00000229595.5	37	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796339	0.50208	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000003	T	0.36880	0.0983	L	0.29908	0.895	0.49915	D	0.999838	P	0.40578	0.722	B	0.36719	0.231	T	0.22661	-1.0210	9	0.34782	T	0.22	-11.721	20.5211	0.99222	0.0:1.0:0.0:0.0	.	174	Q9Y294	ASF1A_HUMAN	I	174	.	ENSP00000229595:L174I	L	+	1	0	ASF1A	119270383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.211000	0.51137	2.861000	0.98227	0.650000	0.86243	CTT		0.423	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034	
FAM184A	79632	broad.mit.edu	37	6	119338090	119338090	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:119338090C>A	ENST00000338891.7	-	5	1795	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	FAM184A_ENST00000521531.1_Missense_Mutation_p.R451I|FAM184A_ENST00000368475.4_Missense_Mutation_p.R331I|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.R331I|FAM184A_ENST00000352896.5_Missense_Mutation_p.R331I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	451						extracellular space (GO:0005615)		p.R451I(1)|p.R451K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGCTGAGTTCTCTTTGCTTC	0.328																																					p.R451I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1352T	6						.						87.0	82.0	84.0					6																	119338090		1804	4066	5870	119379789	SO:0001583	missense	79632	exon5			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1352G>T	6.37:g.119338090C>A	ENSP00000342604:p.Arg451Ile	Somatic		Capture	Illumina HiSeq	Phase_I	119379789	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.193410|2.193410	0.38707|0.38707	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000448815|ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.|T;T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46;1.46	4.94|4.94	2.79|2.79	0.32731|0.32731	.|.	.|0.391115	.|0.27122	.|N	.|0.020840	.|T	.|0.09069	.|0.0224	N|N	0.22421|0.22421	0.69|0.69	0.35427|0.35427	D|D	0.793762|0.793762	.|B;B;B	.|0.30870	.|0.25;0.25;0.298	.|B;B;B	.|0.34038	.|0.132;0.073;0.174	.|T	.|0.08554	.|-1.0716	.|10	.|0.51188	.|T	.|0.08	-5.8195|-5.8195	7.6499|7.6499	0.28342|0.28342	0.0:0.1432:0.0:0.8568|0.0:0.1432:0.0:0.8568	.|.	.|451;331;451	.|Q8NB25-2;F8W8D6;Q8NB25	.|.;.;F184A_HUMAN	X|I	37|451;331;331;451;331	.|ENSP00000342604:R451I;ENSP00000326608:R331I;ENSP00000357460:R331I;ENSP00000430442:R451I;ENSP00000429826:R331I	.|ENSP00000342604:R451I	E|R	-|-	1|2	0|0	FAM184A|FAM184A	119379789|119379789	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.896000|0.896000	0.52359|0.52359	2.652000|2.652000	0.46682|0.46682	0.344000|0.344000	0.23847|0.23847	-0.424000|-0.424000	0.05967|0.05967	GAA|AGA		0.328	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TBC1D32	221322	broad.mit.edu	37	6	121562685	121562685	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:121562685T>G	ENST00000398212.2	-	19	2220	c.2171A>C	c.(2170-2172)aAa>aCa	p.K724T	TBC1D32_ENST00000275159.6_Missense_Mutation_p.K724T	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	724					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.K724T(2)									GCCAAATTTTTTATGCCTGCT	0.378																																					p.K724T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2171C	6						.						88.0	83.0	85.0					6																	121562685		1899	4130	6029	121604384	SO:0001583	missense	221322	exon19			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2171A>C	6.37:g.121562685T>G	ENSP00000381270:p.Lys724Thr	Somatic		Capture	Illumina HiSeq	Phase_I	121604384	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357630	0.24598	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19938	2.11;2.11	5.62	3.17	0.36434	.	0.260649	0.42821	D	0.000648	T	0.08626	0.0214	L	0.47716	1.5	0.33487	D	0.588141	P;B	0.36465	0.554;0.404	B;B	0.35688	0.205;0.208	T	0.07083	-1.0791	10	0.52906	T	0.07	.	10.1567	0.42827	0.0:0.1388:0.0:0.8612	.	724;724	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	T	724	ENSP00000275159:K724T;ENSP00000381270:K724T	ENSP00000275159:K724T	K	-	2	0	C6orf170	121604384	1.000000	0.71417	0.450000	0.26969	0.113000	0.19764	1.771000	0.38542	0.475000	0.27415	0.455000	0.32223	AAA		0.378	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
RNF146	81847	broad.mit.edu	37	6	127608566	127608566	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:127608566C>A	ENST00000368314.1	+	3	1232	c.808C>A	c.(808-810)Cat>Aat	p.H270N	RNF146_ENST00000309649.3_Missense_Mutation_p.H269N|RNF146_ENST00000608991.1_Missense_Mutation_p.H269N|RNF146_ENST00000610153.1_Missense_Mutation_p.H270N|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	270					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H269N(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AGAAGAAGATCATGAATCACC	0.463																																					p.H269N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805A	6						.						176.0	164.0	168.0					6																	127608566		2203	4300	6503	127650259	SO:0001583	missense	81847	exon5			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.808C>A	6.37:g.127608566C>A	ENSP00000357297:p.His270Asn	Somatic		Capture	Illumina HiSeq	Phase_I	127650259	NM_030963	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	C	3.726	-0.056521	0.07362	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.22539	1.95;1.95;1.95	5.42	5.42	0.78866	.	0.640328	0.15544	N	0.256815	T	0.14485	0.0350	L	0.44542	1.39	0.38709	D	0.953171	P	0.47409	0.895	P	0.44518	0.452	T	0.07966	-1.0745	10	0.18710	T	0.47	-3.9478	19.4315	0.94772	0.0:1.0:0.0:0.0	.	270	Q9NTX7	RN146_HUMAN	N	270;269;269	ENSP00000357297:H270N;ENSP00000349253:H269N;ENSP00000309365:H269N	ENSP00000309365:H269N	H	+	1	0	RNF146	127650259	0.997000	0.39634	1.000000	0.80357	0.561000	0.35649	4.365000	0.59486	2.829000	0.97493	0.655000	0.94253	CAT		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963	
KIAA0408	9729	broad.mit.edu	37	6	127768122	127768122	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:127768122T>G	ENST00000483725.3	-	5	1678	c.1342A>C	c.(1342-1344)Act>Cct	p.T448P	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	448								p.T448P(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTAAATACAGTTCTGTTAAAT	0.413																																					p.T448P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1342C	6						.						69.0	72.0	71.0					6																	127768122		2203	4300	6503	127809815	SO:0001583	missense	9729	exon5			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1342A>C	6.37:g.127768122T>G	ENSP00000435150:p.Thr448Pro	Somatic		Capture	Illumina HiSeq	Phase_I	127809815	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232112	0.79688	.	.	ENSG00000189367	ENST00000465254;ENST00000483725	T	0.50548	0.74	5.18	5.18	0.71444	.	0.170311	0.26847	U	0.022185	T	0.54029	0.1833	L	0.54323	1.7	0.41810	D	0.989962	D	0.89917	1.0	D	0.71870	0.975	T	0.59783	-0.7389	10	0.66056	D	0.02	0.0144	13.6139	0.62097	0.0:0.0:0.0:1.0	.	448	Q6ZU52	K0408_HUMAN	P	37;448	ENSP00000435150:T448P	ENSP00000436178:T37P	T	-	1	0	KIAA0408	127809815	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	3.251000	0.51453	1.953000	0.56701	0.533000	0.62120	ACT		0.413	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702	
SOGA3	387104	broad.mit.edu	37	6	127837614	127837614	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:127837614G>A	ENST00000525778.1	-	2	891	c.146C>T	c.(145-147)tCg>tTg	p.S49L	SOGA3_ENST00000556132.1_Missense_Mutation_p.S49L|SOGA3_ENST00000368268.2_Missense_Mutation_p.S49L|SOGA3_ENST00000481848.2_Missense_Mutation_p.S49L|SOGA3_ENST00000465909.2_Missense_Mutation_p.S49L			Q5TF21	SOGA3_HUMAN	SOGA family member 3	49					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S49L(1)									CTGTCGCAGCGAACTGTCCCT	0.652																																					p.S49L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C146T	6						.						28.0	31.0	30.0					6																	127837614		1997	4185	6182	127879307	SO:0001583	missense	387104	exon2			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.146C>T	6.37:g.127837614G>A	ENSP00000434570:p.Ser49Leu	Somatic		Capture	Illumina HiSeq	Phase_I	127879307	NM_001012279		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019332	0.35606	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.79	5.79	0.91817	.	0.404499	0.21252	N	0.077626	T	0.08758	0.0217	N	0.08118	0	0.22412	N	0.999128	B	0.24368	0.102	B	0.20184	0.028	T	0.16928	-1.0386	10	0.54805	T	0.06	-2.9876	15.5213	0.75869	0.0:0.0:1.0:0.0	.	49	Q5TF21	CF174_HUMAN	L	49	ENSP00000451768:S49L;ENSP00000357251:S49L;ENSP00000434570:S49L;ENSP00000435559:S49L	ENSP00000435559:S49L	S	-	2	0	C6orf174	127879307	0.118000	0.22208	0.646000	0.29493	0.017000	0.09413	3.146000	0.50631	2.735000	0.93741	0.561000	0.74099	TCG		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
C6orf58	352999	broad.mit.edu	37	6	127912709	127912709	+	Missense_Mutation	SNP	C	C	A	rs199973325		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:127912709C>A	ENST00000329722.7	+	6	947	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	312						extracellular vesicular exosome (GO:0070062)		p.S312Y(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		ACAGAAAAATCTAATGTATAT	0.274																																					p.S312Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C935A	6						.						29.0	32.0	31.0					6																	127912709		2185	4258	6443	127954402	SO:0001583	missense	352999	exon6			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.935C>A	6.37:g.127912709C>A	ENSP00000328069:p.Ser312Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	127954402	NM_001010905	B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	6.367	0.435849	0.12104	.	.	ENSG00000184530	ENST00000329722	T	0.51817	0.69	3.7	-1.69	0.08186	.	3.246360	0.00783	N	0.001290	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.17433	0.018	T	0.14615	-1.0466	10	0.45353	T	0.12	-0.0398	3.8858	0.09097	0.0:0.2371:0.3877:0.3751	.	312	Q6P5S2	CF058_HUMAN	Y	312	ENSP00000328069:S312Y	ENSP00000328069:S312Y	S	+	2	0	C6orf58	127954402	0.403000	0.25319	0.000000	0.03702	0.001000	0.01503	0.312000	0.19397	-0.299000	0.08909	-0.312000	0.09012	TCT		0.274	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905	
PTPRK	5796	broad.mit.edu	37	6	128400036	128400036	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:128400036A>G	ENST00000368215.3	-	11	1804	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A	PTPRK_ENST00000368213.5_Missense_Mutation_p.V602A|PTPRK_ENST00000368226.4_Missense_Mutation_p.V602A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.V602A|PTPRK_ENST00000368207.3_Missense_Mutation_p.V602A|PTPRK_ENST00000368210.3_Missense_Mutation_p.V602A|PTPRK_ENST00000368227.3_Missense_Mutation_p.V602A			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	602	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V602A(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGAGGCATCAACTCCTTCATA	0.383																																					p.V602A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1805C	6						.						180.0	164.0	169.0					6																	128400036		2203	4300	6503	128441729	SO:0001583	missense	5796	exon11			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1805T>C	6.37:g.128400036A>G	ENSP00000357198:p.Val602Ala	Somatic		Capture	Illumina HiSeq	Phase_I	128441729	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	A	13.75	2.330380	0.41297	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.10192	2.92;2.93;2.93;2.93;2.93;2.92;2.9	5.91	5.91	0.95273	.	0.456657	0.24147	N	0.041106	T	0.01940	0.0061	N	0.03608	-0.345	0.25348	N	0.988894	B;B;B;B;B;B	0.24258	0.001;0.061;0.1;0.002;0.0;0.0	B;B;B;B;B;B	0.28991	0.001;0.045;0.097;0.007;0.0;0.001	T	0.43861	-0.9365	10	0.28530	T	0.3	.	12.0181	0.53326	0.8707:0.0:0.0:0.1293	.	602;602;602;459;602;602	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	A	602;602;602;602;602;602;602;459	ENSP00000357209:V602A;ENSP00000357210:V602A;ENSP00000432973:V602A;ENSP00000357196:V602A;ENSP00000357193:V602A;ENSP00000357198:V602A;ENSP00000357190:V602A	ENSP00000357190:V602A	V	-	2	0	PTPRK	128441729	0.658000	0.27402	1.000000	0.80357	0.998000	0.95712	3.986000	0.56937	2.263000	0.75096	0.528000	0.53228	GTT		0.383	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
PTPRK	5796	broad.mit.edu	37	6	128403614	128403614	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:128403614G>A	ENST00000368215.3	-	10	1744	c.1745C>T	c.(1744-1746)gCc>gTc	p.A582V	PTPRK_ENST00000368213.5_Missense_Mutation_p.A582V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A582V|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.A582V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A582V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A582V|PTPRK_ENST00000368227.3_Missense_Mutation_p.A582V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	582	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A582V(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GATGGCTGTGGCTGGACCAAA	0.423																																					p.A582V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1745T	6						.						143.0	141.0	142.0					6																	128403614		2203	4300	6503	128445307	SO:0001583	missense	5796	exon10			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1745C>T	6.37:g.128403614G>A	ENSP00000357198:p.Ala582Val	Somatic		Capture	Illumina HiSeq	Phase_I	128445307	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	31	5.075714	0.94000	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.57	4.7	0.59300	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.106709	0.64402	N	0.000005	T	0.41166	0.1147	L	0.31371	0.925	0.50171	D	0.999858	B;P;P;B;B;B	0.50156	0.001;0.932;0.917;0.361;0.0;0.0	B;P;P;B;B;B	0.51945	0.006;0.685;0.557;0.295;0.002;0.001	T	0.42882	-0.9425	10	0.51188	T	0.08	.	14.7515	0.69530	0.0698:0.0:0.9302:0.0	.	582;582;582;439;582;582	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	V	582;582;582;582;582;582;582;439	ENSP00000357209:A582V;ENSP00000357210:A582V;ENSP00000432973:A582V;ENSP00000357196:A582V;ENSP00000357193:A582V;ENSP00000357198:A582V;ENSP00000357190:A582V	ENSP00000357190:A582V	A	-	2	0	PTPRK	128445307	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.968000	0.87980	1.484000	0.48361	0.650000	0.86243	GCC		0.423	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
LAMA2	3908	broad.mit.edu	37	6	129573299	129573299	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:129573299T>C	ENST00000421865.2	+	14	2004	c.1955T>C	c.(1954-1956)gTa>gCa	p.V652A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	652	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.V652A(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATACTAATGTATTGTTACTT	0.388																																					p.V652A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1955C	6						.						95.0	85.0	88.0					6																	129573299		2203	4300	6503	129614992	SO:0001583	missense	3908	exon14			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1955T>C	6.37:g.129573299T>C	ENSP00000400365:p.Val652Ala	Somatic		Capture	Illumina HiSeq	Phase_I	129614992	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	8.902	0.956670	0.18507	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.38077	1.16	5.67	0.276	0.15663	Laminin B type IV (2);Laminin B, subgroup (1);	0.743522	0.12983	N	0.423099	T	0.07188	0.0182	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38520	-0.9657	10	0.21014	T	0.42	.	4.2158	0.10533	0.2996:0.2872:0.0:0.4132	.	652;652	A6NF00;P24043	.;LAMA2_HUMAN	A	652	ENSP00000400365:V652A	ENSP00000346769:V652A	V	+	2	0	LAMA2	129614992	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-0.016000	0.12613	-0.098000	0.12285	0.477000	0.44152	GTA		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129759858	129759858	+	Silent	SNP	C	C	A	rs369582534|rs398123380		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:129759858C>A	ENST00000421865.2	+	42	6085	c.6036C>A	c.(6034-6036)ctC>ctA	p.L2012L	RNU6-861P_ENST00000516745.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2012	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2012L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGGGGATCTCTTGAGAACTT	0.353																																					p.L2012L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6036A	6						.						114.0	115.0	115.0					6																	129759858		2203	4300	6503	129801551	SO:0001819	synonymous_variant	3908	exon42			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6036C>A	6.37:g.129759858C>A		Somatic		Capture	Illumina HiSeq	Phase_I	129801551	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.353	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129835714	129835714	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:129835714A>G	ENST00000421865.2	+	64	9234	c.9185A>G	c.(9184-9186)gAc>gGc	p.D3062G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3062	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.D3062G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACACAAATGACCCTGTGTTT	0.463																																					p.D3058G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9173G	6						.						129.0	102.0	111.0					6																	129835714		2203	4300	6503	129877407	SO:0001583	missense	3908	exon63			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9185A>G	6.37:g.129835714A>G	ENSP00000400365:p.Asp3062Gly	Somatic		Capture	Illumina HiSeq	Phase_I	129877407	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583931	0.86748	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.38560	1.13	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.37850	1.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36504	-0.9745	9	.	.	.	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	3063;3062	A6NF00;P24043	.;LAMA2_HUMAN	G	3062;3061;3062;1080	ENSP00000400365:D3062G	.	D	+	2	0	LAMA2	129877407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.095000	0.94175	2.225000	0.72522	0.533000	0.62120	GAC		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
EPB41L2	2037	broad.mit.edu	37	6	131206265	131206265	+	Missense_Mutation	SNP	C	C	T	rs201062554		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:131206265C>T	ENST00000337057.3	-	12	1985	c.1804G>A	c.(1804-1806)Gcc>Acc	p.A602T	EPB41L2_ENST00000530481.1_Missense_Mutation_p.A602T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A602T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.A602T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.A602T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A602T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.A602T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.A602T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A602T|EPB41L2_ENST00000530757.1_5'Flank|EPB41L2_ENST00000392427.3_Missense_Mutation_p.A602T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.A602T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	602	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.A602T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AAATGTGGGGCTTTAGTTGGG	0.468											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		17387	0.0		0.0	False		,,,				2504	0.0				p.A602T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1804A	6						.						170.0	164.0	166.0					6																	131206265		2203	4300	6503	131247958	SO:0001583	missense	2037	exon12			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1804G>A	6.37:g.131206265C>T	ENSP00000338481:p.Ala602Thr	Somatic	1586	Capture	Illumina HiSeq	Phase_I	131247958	NM_001135555	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	3.843|3.843	-0.033349|-0.033349	0.07543|0.07543	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208|ENST00000456097	D;D;D;D;T;D;D;T;D;D;D|.	0.82081|.	-1.56;-1.56;-1.56;-1.57;-0.68;-1.57;-1.56;-0.68;-1.56;-1.57;-1.56|.	5.51|5.51	2.2|2.2	0.27929|0.27929	.|.	1.189120|.	0.05925|.	N|.	0.634148|.	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;P|.	0.38167|.	0.0;0.001;0.0;0.0;0.621|.	B;B;B;B;B|.	0.38378|.	0.001;0.004;0.001;0.004;0.272|.	T|T	0.28839|0.28839	-1.0031|-1.0031	10|5	0.12766|.	T|.	0.61|.	.|.	3.0917|3.0917	0.06296|0.06296	0.0:0.4673:0.2272:0.3055|0.0:0.4673:0.2272:0.3055	.|.	602;602;602;602;602|.	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2|.	.;.;.;E41L2_HUMAN;.|.	T|N	602|92	ENSP00000434308:A602T;ENSP00000434576:A602T;ENSP00000402041:A602T;ENSP00000338481:A602T;ENSP00000376222:A602T;ENSP00000357110:A602T;ENSP00000436348:A602T;ENSP00000432803:A602T;ENSP00000431988:A602T;ENSP00000431647:A602T;ENSP00000436641:A602T|.	ENSP00000338481:A602T|.	A|S	-|-	1|2	0|0	EPB41L2|EPB41L2	131247958|131247958	0.573000|0.573000	0.26676|0.26676	0.006000|0.006000	0.13384|0.13384	0.421000|0.421000	0.31385|0.31385	0.771000|0.771000	0.26633|0.26633	0.772000|0.772000	0.33382|0.33382	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.468	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		
MED23	9439	broad.mit.edu	37	6	131911545	131911545	+	Missense_Mutation	SNP	C	C	T	rs148431716		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:131911545C>T	ENST00000368068.3	-	27	3903	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	MED23_ENST00000354577.4_Missense_Mutation_p.E1248K|MED23_ENST00000368060.3_Missense_Mutation_p.E1242K|MED23_ENST00000368058.1_Missense_Mutation_p.E1248K|MED23_ENST00000403834.3_Missense_Mutation_p.E1248K|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.E883K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1242					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.E1242K(1)|p.E1248K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AACTGGAATTCGGTCTTCACT	0.313													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15253	0.0		0.0	False		,,,				2504	0.0				p.E1248K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3742A	6						.	C	LYS/GLU,LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	62.0	65.0	64.0		3724,3742	5.7	1.0	6	dbSNP_134	64	0,8594		0,0,4297	no	missense,missense	MED23	NM_004830.2,NM_015979.2	56,56	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1242/1369,1248/1366	131911545	1,12997	2202	4297	6499	131953238	SO:0001583	missense	9439	exon28			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3724G>A	6.37:g.131911545C>T	ENSP00000357047:p.Glu1242Lys	Somatic		Capture	Illumina HiSeq	Phase_I	131953238	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798803	0.96960	2.27E-4	0.0	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92067	0.7486	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91958	0.5576	10	0.66056	D	0.02	-18.1146	19.8411	0.96685	0.0:1.0:0.0:0.0	.	1242;1248	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	K	1248;1242;1248;1242;1248;883	ENSP00000346588:E1248K;ENSP00000357047:E1242K;ENSP00000384536:E1248K;ENSP00000357039:E1242K;ENSP00000357037:E1248K;ENSP00000439977:E883K	ENSP00000346588:E1248K	E	-	1	0	MED23	131953238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.261000	0.78400	2.683000	0.91414	0.655000	0.94253	GAA		0.313	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
MED23	9439	broad.mit.edu	37	6	131912565	131912565	+	Missense_Mutation	SNP	C	C	A	rs202076275		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:131912565C>A	ENST00000368068.3	-	26	3753	c.3574G>T	c.(3574-3576)Gat>Tat	p.D1192Y	MED23_ENST00000354577.4_Missense_Mutation_p.D1198Y|MED23_ENST00000368060.3_Missense_Mutation_p.D1192Y|MED23_ENST00000368058.1_Missense_Mutation_p.D1198Y|MED23_ENST00000403834.3_Missense_Mutation_p.D1198Y|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.D833Y	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1192					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.D1198Y(1)|p.D1192Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCAGTGAAATCAAAGAGGCGG	0.473																																					p.D1198Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3592T	6						.						122.0	106.0	111.0					6																	131912565		2203	4300	6503	131954258	SO:0001583	missense	9439	exon27			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3574G>T	6.37:g.131912565C>A	ENSP00000357047:p.Asp1192Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	131954258	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112636	0.94339	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	N	0.19112	0.55	0.80722	D	1	D;P	0.53151	0.958;0.948	P;P	0.54026	0.74;0.623	T	0.77225	-0.2666	10	0.72032	D	0.01	-22.4498	19.6968	0.96029	0.0:1.0:0.0:0.0	.	1192;1198	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	Y	1198;1192;1198;1192;1198;833	ENSP00000346588:D1198Y;ENSP00000357047:D1192Y;ENSP00000384536:D1198Y;ENSP00000357039:D1192Y;ENSP00000357037:D1198Y;ENSP00000439977:D833Y	ENSP00000346588:D1198Y	D	-	1	0	MED23	131954258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.658000	0.90341	0.563000	0.77884	GAT		0.473	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
MOXD1	26002	broad.mit.edu	37	6	132619047	132619047	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:132619047G>T	ENST00000367963.3	-	11	1674	c.1556C>A	c.(1555-1557)tCt>tAt	p.S519Y	MOXD1_ENST00000336749.3_Missense_Mutation_p.S451Y	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	519						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.S451Y(1)|p.S519Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCCATGAAAGAAAGGTTTTT	0.373																																					p.S519Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1556A	6						.						85.0	81.0	83.0					6																	132619047		2203	4300	6503	132660740	SO:0001583	missense	26002	exon11			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1556C>A	6.37:g.132619047G>T	ENSP00000356940:p.Ser519Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	132660740	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298210	0.81025	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.51817	0.69;0.69	6.06	6.06	0.98353	.	0.067935	0.64402	D	0.000012	T	0.66147	0.2760	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.948;0.998	T	0.67313	-0.5702	10	0.87932	D	0	-20.0915	18.8014	0.92018	0.0:0.0:1.0:0.0	.	519;451	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	Y	519;451	ENSP00000356940:S519Y;ENSP00000336998:S451Y	ENSP00000336998:S451Y	S	-	2	0	MOXD1	132660740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.103000	0.77014	2.882000	0.98803	0.655000	0.94253	TCT		0.373	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
PHACTR1	221692	broad.mit.edu	37	6	13182905	13182905	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:13182905C>A	ENST00000379350.1	+	6	780	c.651C>A	c.(649-651)atC>atA	p.I217I	PHACTR1_ENST00000457702.2_Silent_p.I72I|PHACTR1_ENST00000379345.2_Silent_p.I72I|PHACTR1_ENST00000332995.7_Silent_p.I217I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	217					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.I217I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CGTCAGACATCATGGATGGGC	0.592																																					p.I217I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C651A	6						.						82.0	84.0	83.0					6																	13182905		1951	4160	6111	13290884	SO:0001819	synonymous_variant	221692	exon6			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.651C>A	6.37:g.13182905C>A		Somatic		Capture	Illumina HiSeq	Phase_I	13290884	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.657|9.657	1.143107|1.143107	0.21205|0.21205	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000406205|ENST00000415087	.|.	.|.	.|.	5.67|5.67	3.51|3.51	0.40186|0.40186	.|.	.|.	.|.	.|.	.|.	T|.	0.45696|.	0.1355|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39231|.	-0.9624|.	4|.	.|.	.|.	.|.	-15.5579|-15.5579	9.638|9.638	0.39822|0.39822	0.0:0.8011:0.0:0.1989|0.0:0.8011:0.0:0.1989	.|.	.|.	.|.	.|.	N|X	253|52	.|.	.|.	H|S	+|+	1|2	0|0	PHACTR1|PHACTR1	13290884|13290884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.711000|1.711000	0.37930|0.37930	0.522000|0.522000	0.28464|0.28464	-0.140000|-0.140000	0.14226|0.14226	CAT|TCA		0.592	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
TAAR9	134860	broad.mit.edu	37	6	132860061	132860061	+	RNA	SNP	C	C	T	rs141991091	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:132860061C>T	ENST00000434551.1	+	0	633					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TACCCAATGTCGCCATGGTGT	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19151	0.0		0.0	False		,,,				2504	0.0				p.V211V	Colon(10;433 445 15992 45047 47213)											.	.	0			c.C633T	6						.						113.0	109.0	111.0					6																	132860061		1856	4105	5961	132901754			134860	exon1			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860061C>T		Somatic		Capture	Illumina HiSeq	Phase_I	132901754	NM_175057		Silent	SNP	ENST00000434551.1	37																																																																																					0.438	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057	
TAAR8	83551	broad.mit.edu	37	6	132874631	132874631	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:132874631T>C	ENST00000275200.1	+	1	800	c.800T>C	c.(799-801)gTt>gCt	p.V267A		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	267					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.V267A(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTAGCATTTGTTATTTCATGG	0.408																																					p.V267A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T800C	6						.						152.0	158.0	156.0					6																	132874631		2203	4300	6503	132916324	SO:0001583	missense	83551	exon1			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.800T>C	6.37:g.132874631T>C	ENSP00000275200:p.Val267Ala	Somatic		Capture	Illumina HiSeq	Phase_I	132916324	NM_053278	Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603691	0.28534	.	.	ENSG00000146385	ENST00000275200	T	0.73258	-0.73	4.72	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.627026	0.15472	N	0.260522	T	0.48607	0.1509	L	0.39692	1.235	0.09310	N	1	B	0.20780	0.048	B	0.33121	0.158	T	0.54016	-0.8356	10	0.87932	D	0	-3.1003	10.4726	0.44646	0.0:0.077:0.0:0.923	.	267	Q969N4	TAAR8_HUMAN	A	267	ENSP00000275200:V267A	ENSP00000275200:V267A	V	+	2	0	TAAR8	132916324	0.219000	0.23619	0.003000	0.11579	0.416000	0.31233	3.454000	0.52986	0.929000	0.37192	0.533000	0.62120	GTT		0.408	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278	
SLC2A12	154091	broad.mit.edu	37	6	134350254	134350254	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:134350254G>T	ENST00000275230.5	-	2	864	c.709C>A	c.(709-711)Ctt>Att	p.L237I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	237					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.L237I(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACCTTCCAAGAACCTTGCTA	0.443																																					p.L237I	Melanoma(122;1663 1672 14489 35294 41228)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C709A	6						.						72.0	73.0	72.0					6																	134350254		2203	4300	6503	134391947	SO:0001583	missense	154091	exon2			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.709C>A	6.37:g.134350254G>T	ENSP00000275230:p.Leu237Ile	Somatic		Capture	Illumina HiSeq	Phase_I	134391947	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975594	0.74360	.	.	ENSG00000146411	ENST00000275230	T	0.79749	-1.3	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	M	0.71581	2.175	0.80722	D	1	D	0.65815	0.995	D	0.69824	0.966	D	0.88107	0.2823	10	0.62326	D	0.03	-14.776	19.174	0.93594	0.0:0.0:1.0:0.0	.	237	Q8TD20	GTR12_HUMAN	I	237	ENSP00000275230:L237I	ENSP00000275230:L237I	L	-	1	0	SLC2A12	134391947	1.000000	0.71417	0.990000	0.47175	0.724000	0.41520	4.451000	0.60047	2.542000	0.85734	0.467000	0.42956	CTT		0.443	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1		
ALDH8A1	64577	broad.mit.edu	37	6	135239604	135239604	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:135239604C>A	ENST00000265605.2	-	7	1481	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.K421N|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.K417N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	471					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.K471N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CGTAAGAGTCCTTGGCTCCCT	0.517																																					p.K417N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1251T	6						.						132.0	127.0	128.0					6																	135239604		2203	4300	6503	135281297	SO:0001583	missense	64577	exon6			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1413G>T	6.37:g.135239604C>A	ENSP00000265605:p.Lys471Asn	Somatic		Capture	Illumina HiSeq	Phase_I	135281297	NM_170771	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894700	0.33442	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.77620	-1.11;1.54;-1.11	6.06	0.267	0.15622	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.039829	0.85682	D	0.000000	T	0.55065	0.1897	L	0.52266	1.64	0.58432	D	0.999996	B;B;B	0.25667	0.131;0.018;0.022	B;B;B	0.25759	0.063;0.037;0.063	T	0.51482	-0.8700	10	0.54805	T	0.06	.	10.2799	0.43532	0.0:0.5692:0.0:0.4308	.	421;417;471	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	N	471;417;421	ENSP00000265605:K471N;ENSP00000356819:K417N;ENSP00000356821:K421N	ENSP00000265605:K471N	K	-	3	2	ALDH8A1	135281297	0.784000	0.28713	0.989000	0.46669	0.988000	0.76386	-0.039000	0.12124	-0.245000	0.09625	0.650000	0.86243	AAG		0.517	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2		
MTFR2	113115	broad.mit.edu	37	6	136554543	136554543	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:136554543C>T	ENST00000420702.1	-	7	1353	c.964G>A	c.(964-966)Gca>Aca	p.A322T	MTFR2_ENST00000451457.2_Missense_Mutation_p.A322T	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	322					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)		p.A322T(1)									TCTTGAAATGCAAATTTCTGT	0.363																																					p.A322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	6						.						61.0	64.0	63.0					6																	136554543		2203	4296	6499	136596236	SO:0001583	missense	113115	exon7			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.964G>A	6.37:g.136554543C>T	ENSP00000395232:p.Ala322Thr	Somatic		Capture	Illumina HiSeq	Phase_I	136596236	NM_138419	A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.651108|4.651108	0.88056|0.88056	.|.	.|.	ENSG00000146410|ENSG00000146410	ENST00000451457;ENST00000420702|ENST00000532958	T;T|.	0.61274|.	0.12;0.12|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.228673|.	0.44483|.	N|.	0.000453|.	T|T	0.68787|0.68787	0.3039|0.3039	M|M	0.66939|0.66939	2.045|2.045	0.48452|0.48452	D|D	0.99965|0.99965	D|.	0.69078|.	0.997|.	D|.	0.67103|.	0.949|.	T|T	0.66689|0.66689	-0.5860|-0.5860	10|5	0.87932|.	D|.	0|.	-20.8594|-20.8594	18.3566|18.3566	0.90359|0.90359	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	322|.	Q6P444|.	FA54A_HUMAN|.	T|Y	322|59	ENSP00000407010:A322T;ENSP00000395232:A322T|.	ENSP00000395232:A322T|.	A|C	-|-	1|2	0|0	FAM54A|FAM54A	136596236|136596236	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.883000|0.883000	0.51084|0.51084	5.418000|5.418000	0.66429|0.66429	2.632000|2.632000	0.89209|0.89209	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.363	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419	
MAP3K5	4217	broad.mit.edu	37	6	136980427	136980427	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:136980427C>T	ENST00000359015.4	-	9	1816	c.1456G>A	c.(1456-1458)Gtc>Atc	p.V486I	MAP3K5_ENST00000355845.4_5'Flank	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	486					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.V486I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGGCTAGGACGCTGGCCCCC	0.398																																					p.V486I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1456A	6						.						73.0	75.0	75.0					6																	136980427		2203	4300	6503	137022120	SO:0001583	missense	4217	exon9			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1456G>A	6.37:g.136980427C>T	ENSP00000351908:p.Val486Ile	Somatic		Capture	Illumina HiSeq	Phase_I	137022120	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621427	0.28889	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.11930	2.73	5.92	5.92	0.95590	.	0.101972	0.64402	D	0.000004	T	0.02083	0.0065	N	0.03324	-0.35	0.80722	D	1	B;B;B	0.28512	0.016;0.214;0.029	B;B;B	0.22601	0.024;0.04;0.005	T	0.48768	-0.9006	10	0.19590	T	0.45	.	10.335	0.43844	0.0:0.8506:0.0:0.1494	.	566;331;486	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	I	486;566	ENSP00000351908:V486I	ENSP00000351908:V486I	V	-	1	0	MAP3K5	137022120	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.251000	0.51453	2.810000	0.96702	0.650000	0.86243	GTC		0.398	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
SLC35D3	340146	broad.mit.edu	37	6	137245734	137245734	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:137245734C>T	ENST00000331858.4	+	2	1316	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	384					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.S384L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AGCAGGAGGTCGTTAAAAGAT	0.557																																					p.S384L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1151T	6						.						103.0	115.0	111.0					6																	137245734		2203	4300	6503	137287427	SO:0001583	missense	340146	exon2				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1151C>T	6.37:g.137245734C>T	ENSP00000333591:p.Ser384Leu	Somatic		Capture	Illumina HiSeq	Phase_I	137287427	NM_001008783	B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055366	0.55325	.	.	ENSG00000182747	ENST00000331858	T	0.64260	-0.09	6.06	6.06	0.98353	.	0.084915	0.49916	D	0.000126	T	0.57154	0.2034	L	0.27053	0.805	0.53688	D	0.999975	D	0.76494	0.999	P	0.54372	0.75	T	0.62067	-0.6932	10	0.87932	D	0	-12.0719	18.8014	0.92018	0.0:1.0:0.0:0.0	.	384	Q5M8T2	S35D3_HUMAN	L	384	ENSP00000333591:S384L	ENSP00000333591:S384L	S	+	2	0	SLC35D3	137287427	1.000000	0.71417	0.737000	0.30932	0.102000	0.19082	4.658000	0.61497	2.882000	0.98803	0.655000	0.94253	TCG		0.557	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017	
IFNGR1	3459	broad.mit.edu	37	6	137522066	137522066	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:137522066C>A	ENST00000367739.4	-	6	934	c.813G>T	c.(811-813)aaG>aaT	p.K271N	IFNGR1_ENST00000543628.1_Missense_Mutation_p.K243N	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	271					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.K271N(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GATTAATTTTCTTAATATAAA	0.294																																					p.K271N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G813T	6						.						33.0	34.0	34.0					6																	137522066		2203	4296	6499	137563759	SO:0001583	missense	3459	exon6				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.813G>T	6.37:g.137522066C>A	ENSP00000356713:p.Lys271Asn	Somatic		Capture	Illumina HiSeq	Phase_I	137563759	NM_000416	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312100|4.312100	0.81358|0.81358	.|.	.|.	ENSG00000027697|ENSG00000027697	ENST00000367739;ENST00000543628|ENST00000418947	T;T|.	0.73789|.	-0.78;-0.62|.	5.47|5.47	4.59|4.59	0.56863|0.56863	Interferon gamma receptor, poxvirus/mammal (1);|.	1.332650|.	0.04548|.	N|.	0.389286|.	T|T	0.41236|0.41236	0.1150|0.1150	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999991|0.999991	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77004|.	0.967;0.989|.	T|T	0.41893|0.41893	-0.9483|-0.9483	10|6	0.72032|0.05620	D|T	0.01|0.96	-22.3682|-22.3682	10.7235|10.7235	0.46055|0.46055	0.0:0.9076:0.0:0.0924|0.0:0.9076:0.0:0.0924	.|.	243;271|.	F5H5M7;P15260|.	.;INGR1_HUMAN|.	N|I	271;243|270	ENSP00000356713:K271N;ENSP00000443282:K243N|.	ENSP00000356713:K271N|ENSP00000402034:R270I	K|R	-|-	3|2	2|0	IFNGR1|IFNGR1	137563759|137563759	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.635000|0.635000	0.38103|0.38103	0.973000|0.973000	0.29422|0.29422	2.734000|2.734000	0.93682|0.93682	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.294	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1		
KIAA1244	57221	broad.mit.edu	37	6	138607852	138607852	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:138607852C>T	ENST00000251691.4	+	16	2750	c.2584C>T	c.(2584-2586)Cgc>Tgc	p.R862C		NM_020340.4	NP_065073.3			KIAA1244									p.R791C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGCATTTGCTCGCTATATTCT	0.478																																					p.R862C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2584T	6						.						120.0	124.0	123.0					6																	138607852		2203	4300	6503	138649545	SO:0001583	missense	57221	exon16			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2584C>T	6.37:g.138607852C>T	ENSP00000251691:p.Arg862Cys	Somatic		Capture	Illumina HiSeq	Phase_I	138649545	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542299	0.85917	.	.	ENSG00000112379	ENST00000251691	T	0.60672	0.17	5.35	5.35	0.76521	.	0.283649	0.38778	N	0.001561	T	0.71400	0.3335	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74414	-0.3673	10	0.87932	D	0	-17.5538	14.131	0.65253	0.1499:0.8501:0.0:0.0	.	862	Q5TH69	BIG3_HUMAN	C	862	ENSP00000251691:R862C	ENSP00000251691:R862C	R	+	1	0	KIAA1244	138649545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.222000	0.58580	2.785000	0.95823	0.655000	0.94253	CGC		0.478	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
CCDC28A	25901	broad.mit.edu	37	6	139106369	139106369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:139106369G>T	ENST00000332797.6	+	4	753	c.598G>T	c.(598-600)Gaa>Taa	p.E200*		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	200								p.E200*(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCAAGGAAATGAATGTTCCAT	0.393																																					p.E200X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G598T	6						.						74.0	74.0	74.0					6																	139106369		2203	4300	6503	139148062	SO:0001587	stop_gained	25901	exon4			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.598G>T	6.37:g.139106369G>T	ENSP00000332716:p.Glu200*	Somatic		Capture	Illumina HiSeq	Phase_I	139148062	NM_015439	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Nonsense_Mutation	SNP	ENST00000332797.6	37	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	38	7.145815	0.98096	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	.	.	.	5.49	5.49	0.81192	.	0.111220	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-28.0328	19.3817	0.94540	0.0:0.0:1.0:0.0	.	.	.	.	X	200;87	.	ENSP00000026464:E87X	E	+	1	0	CCDC28A	139148062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.566000	0.86566	0.655000	0.94253	GAA		0.393	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439	
REPS1	85021	broad.mit.edu	37	6	139241381	139241381	+	Missense_Mutation	SNP	G	G	A	rs201518102		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:139241381G>A	ENST00000450536.2	-	12	2073	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	REPS1_ENST00000409812.2_Missense_Mutation_p.S473L|REPS1_ENST00000258062.5_Missense_Mutation_p.S500L|REPS1_ENST00000367663.4_Missense_Mutation_p.S473L|REPS1_ENST00000415951.2_Missense_Mutation_p.S473L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	500					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.S448L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GAATTTCACCGATGAATTTAT	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17976	0.0		0.001	False		,,,				2504	0.0				p.S500L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1499T	6						.						138.0	141.0	140.0					6																	139241381		2202	4300	6502	139283074	SO:0001583	missense	85021	exon12				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1499C>T	6.37:g.139241381G>A	ENSP00000392065:p.Ser500Leu	Somatic		Capture	Illumina HiSeq	Phase_I	139283074	NM_031922	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.7	4.445875	0.84101	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.34859	1.34;1.4;1.37;1.49;1.36;1.39	5.79	5.79	0.91817	.	0.124805	0.56097	D	0.000033	T	0.52025	0.1709	L	0.58810	1.83	0.58432	D	0.999998	D;D;D;D;D	0.71674	0.98;0.984;0.998;0.966;0.997	P;B;D;B;D	0.75484	0.473;0.356;0.986;0.282;0.968	T	0.46470	-0.9189	10	0.51188	T	0.08	-9.3521	20.024	0.97514	0.0:0.0:1.0:0.0	.	500;448;473;500;473	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	L	500;473;459;473;500;473;448;87	ENSP00000392065:S500L;ENSP00000356635:S473L;ENSP00000434251:S459L;ENSP00000386699:S473L;ENSP00000258062:S500L;ENSP00000397941:S473L	ENSP00000258062:S500L	S	-	2	0	REPS1	139283074	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	8.239000	0.89811	2.718000	0.92993	0.655000	0.94253	TCG		0.323	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
REPS1	85021	broad.mit.edu	37	6	139265136	139265136	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:139265136C>T	ENST00000450536.2	-	6	1344	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	REPS1_ENST00000409812.2_Missense_Mutation_p.R257Q|REPS1_ENST00000258062.5_Missense_Mutation_p.R257Q|REPS1_ENST00000367663.4_Missense_Mutation_p.R257Q|REPS1_ENST00000415951.2_Missense_Mutation_p.R257Q			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	257					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R205Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TGCTACAGTTCGTACTGTTGT	0.353																																					p.R257Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G770A	6						.						142.0	125.0	131.0					6																	139265136		2203	4300	6503	139306829	SO:0001583	missense	85021	exon6				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.770G>A	6.37:g.139265136C>T	ENSP00000392065:p.Arg257Gln	Somatic		Capture	Illumina HiSeq	Phase_I	139306829	NM_031922	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.825803	0.90955	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.31769	1.49;1.49;1.52;1.52;1.48;1.49	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.79784	0.993;0.99;0.728;0.978	T	0.01557	-1.1325	10	0.13853	T	0.58	-10.7386	20.5211	0.99222	0.0:1.0:0.0:0.0	.	257;257;257;257	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	Q	257;257;243;257;257;257;205	ENSP00000392065:R257Q;ENSP00000356635:R257Q;ENSP00000434251:R243Q;ENSP00000386699:R257Q;ENSP00000258062:R257Q;ENSP00000397941:R257Q	ENSP00000258062:R257Q	R	-	2	0	REPS1	139306829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.861000	0.98227	0.650000	0.86243	CGA		0.353	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
TXLNB	167838	broad.mit.edu	37	6	139591649	139591649	+	Nonsense_Mutation	SNP	G	G	A	rs368012665		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:139591649G>A	ENST00000358430.3	-	4	863	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	211						cytoplasm (GO:0005737)		p.R211*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AATTTGCTTCGAGCGAGGATA	0.443																																					p.R211X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C631T	6						.	G	stop/ARG	0,4406		0,0,2203	174.0	173.0	174.0		631	2.8	0.3	6		174	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	TXLNB	NM_153235.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		211/685	139591649	1,13005	2203	4300	6503	139633342	SO:0001587	stop_gained	167838	exon4				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.631C>T	6.37:g.139591649G>A	ENSP00000351206:p.Arg211*	Somatic		Capture	Illumina HiSeq	Phase_I	139633342	NM_153235	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	40	8.176881	0.98691	0.0	1.16E-4	ENSG00000164440	ENST00000358430	.	.	.	5.6	2.76	0.32466	.	0.050495	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.5857	15.0139	0.71570	0.0:0.0:0.6276:0.3724	.	.	.	.	X	211	.	.	R	-	1	2	TXLNB	139633342	1.000000	0.71417	0.296000	0.24974	0.963000	0.63663	6.752000	0.74898	0.370000	0.24538	0.655000	0.94253	CGA		0.443	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
CITED2	10370	broad.mit.edu	37	6	139694400	139694400	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:139694400G>T	ENST00000367651.2	-	2	897	c.682C>A	c.(682-684)Ctt>Att	p.L228I	CITED2_ENST00000536159.1_Missense_Mutation_p.L228I|CITED2_ENST00000537332.1_Missense_Mutation_p.L228I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	228	Asp/Glu-rich (acidic).				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L228I(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		AAGGACATAAGAACTTCCTCG	0.562																																					p.L228I	NSCLC(98;1219 1550 33720 43229 49330)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682A	6						.						77.0	78.0	78.0					6																	139694400		2203	4300	6503	139736093	SO:0001583	missense	10370	exon2			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.682C>A	6.37:g.139694400G>T	ENSP00000356623:p.Leu228Ile	Somatic		Capture	Illumina HiSeq	Phase_I	139736093	NM_001168388	O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041589	0.55003	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.80033	-1.33;-1.33;-1.33	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000016	D	0.84488	0.5483	L	0.47716	1.5	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	T	0.82309	-0.0521	9	.	.	.	-3.029	19.5545	0.95338	0.0:0.0:1.0:0.0	.	228	Q99967	CITE2_HUMAN	I	228;228;228;172	ENSP00000356623:L228I;ENSP00000442831:L228I;ENSP00000444198:L228I	.	L	-	1	0	CITED2	139736093	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.454000	0.60068	2.622000	0.88805	0.655000	0.94253	CTT		0.562	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1		
HIVEP2	3097	broad.mit.edu	37	6	143091163	143091163	+	Silent	SNP	G	G	A	rs537632099		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:143091163G>A	ENST00000367604.1	-	4	5352	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	HIVEP2_ENST00000012134.2_Silent_p.I1571I|HIVEP2_ENST00000367603.2_Silent_p.I1571I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1571	Ser-rich.				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.I1571I(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)		CCGTCTCATCGATATCTAATT	0.547													G|||	0	0.0	0.0	0.0	5008	,	,		19084	0.0		0.0	False		,,,				2504	0.0				p.I1571I	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4713T	6						.						104.0	108.0	107.0					6																	143091163		2002	4172	6174	143132856	SO:0001819	synonymous_variant	3097	exon5			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.4713C>T	6.37:g.143091163G>A		Somatic		Capture	Illumina HiSeq	Phase_I	143132856	NM_006734	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.547	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
ADAT2	134637	broad.mit.edu	37	6	143749604	143749604	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:143749604G>T	ENST00000237283.8	-	6	586	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	ADAT2_ENST00000606514.1_Missense_Mutation_p.S144Y	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	191					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)	p.S191Y(1)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACATGTTCAAGATTTCTGACA	0.348																																					p.S191Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572A	6						.						159.0	141.0	147.0					6																	143749604		1832	4086	5918	143791297	SO:0001583	missense	134637	exon6			BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.572C>A	6.37:g.143749604G>T	ENSP00000237283:p.Ser191Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	143791297	NM_182503	A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907202	0.52333	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	.	.	.	5.34	2.28	0.28536	.	0.523497	0.17939	N	0.156916	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	0.999999	B	0.22003	0.063	B	0.18871	0.023	T	0.22173	-1.0224	9	0.87932	D	0	.	7.9033	0.29746	0.2209:0.1557:0.6234:0.0	.	191	Q7Z6V5	ADAT2_HUMAN	Y	144;191	.	ENSP00000237283:S191Y	S	-	2	0	ADAT2	143791297	0.385000	0.25172	0.608000	0.28969	0.940000	0.58332	1.702000	0.37836	0.740000	0.32651	0.650000	0.86243	TCT		0.348	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727	
FUCA2	2519	broad.mit.edu	37	6	143828534	143828534	+	Silent	SNP	C	C	T	rs185245972		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:143828534C>T	ENST00000002165.6	-	2	307	c.252G>A	c.(250-252)ccG>ccA	p.P84P	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Silent_p.P84P|RP1-20N2.6_ENST00000415586.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	84					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.P84P(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCACATACTTCGGTATCTTTT	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20695	0.0		0.0	False		,,,				2504	0.0				p.P84P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	6						.	C		1,4405		0,1,2202	90.0	101.0	97.0		252	-10.4	0.0	6		97	0,8600		0,0,4300	no	coding-synonymous	FUCA2	NM_032020.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		84/468	143828534	1,13005	2203	4300	6503	143870227	SO:0001819	synonymous_variant	2519	exon2			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.252G>A	6.37:g.143828534C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143870227	NM_032020	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	CCDS5200.1																																																																																				0.378	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020	
FBXO30	84085	broad.mit.edu	37	6	146126871	146126871	+	Missense_Mutation	SNP	G	G	A	rs532426956	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:146126871G>A	ENST00000237281.4	-	2	837	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	224							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A224V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCTTTCTCTCGCATTTTGCTG	0.398													G|||	2	0.000399361	0.0	0.0	5008	,	,		22555	0.0		0.0	False		,,,				2504	0.002				p.A224V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	6						.						204.0	204.0	204.0					6																	146126871		2203	4300	6503	146168564	SO:0001583	missense	84085	exon2			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.671C>T	6.37:g.146126871G>A	ENSP00000237281:p.Ala224Val	Somatic		Capture	Illumina HiSeq	Phase_I	146168564	NM_032145	Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.468701	0.01053	.	.	ENSG00000118496	ENST00000237281	T	0.17528	2.27	5.52	0.25	0.15535	.	1.551480	0.03066	N	0.156466	T	0.02727	0.0082	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	10	0.29301	T	0.29	1.3073	1.4977	0.02470	0.1946:0.1106:0.3408:0.3539	.	224	Q8TB52	FBX30_HUMAN	V	224	ENSP00000237281:A224V	ENSP00000237281:A224V	A	-	2	0	FBXO30	146168564	0.000000	0.05858	0.022000	0.16811	0.065000	0.16274	0.442000	0.21628	-0.173000	0.10761	-1.107000	0.02091	GCG		0.398	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2		
TAB2	23118	broad.mit.edu	37	6	149700064	149700064	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:149700064C>A	ENST00000367456.1	+	4	1590	c.1013C>A	c.(1012-1014)tCt>tAt	p.S338Y	TAB2_ENST00000538427.1_Missense_Mutation_p.S338Y|TAB2_ENST00000536230.1_Missense_Mutation_p.S306Y|TAB2_ENST00000392282.1_Missense_Mutation_p.S338Y|TAB2_ENST00000286332.5_Missense_Mutation_p.S338Y			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	338					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.S338Y(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AGAAATAATTCTTCAAAACTG	0.418																																					p.S338Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013A	6						.						63.0	65.0	64.0					6																	149700064		2203	4300	6503	149741757	SO:0001583	missense	23118	exon5			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1013C>A	6.37:g.149700064C>A	ENSP00000356426:p.Ser338Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	149741757	NM_015093	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640221	0.67244	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.75260	-0.9;-0.92;-0.9;-0.9;-0.9	6.07	6.07	0.98685	.	0.204709	0.53938	D	0.000060	T	0.65943	0.2740	N	0.19112	0.55	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.52267	0.694;0.694	T	0.65335	-0.6193	10	0.36615	T	0.2	-13.3134	20.6525	0.99598	0.0:1.0:0.0:0.0	.	306;338	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	Y	306;338;338;338;338	ENSP00000443206:S306Y;ENSP00000376106:S338Y;ENSP00000445752:S338Y;ENSP00000356426:S338Y;ENSP00000286332:S338Y	ENSP00000286332:S338Y	S	+	2	0	TAB2	149741757	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.391000	0.66266	2.890000	0.99128	0.585000	0.79938	TCT		0.418	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3		
RAET1E	135250	broad.mit.edu	37	6	150211143	150211143	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:150211143C>T	ENST00000357183.4	-	2	356	c.224G>A	c.(223-225)gGc>gAc	p.G75D	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.G39D|RAET1E_ENST00000529948.1_Missense_Mutation_p.G75D|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Missense_Mutation_p.G75D	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	75	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.G75D(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCCCAGGAGGCCCAGAGGTTT	0.512																																					p.G75D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224A	6						.						96.0	89.0	91.0					6																	150211143		2203	4300	6503	150252836	SO:0001583	missense	135250	exon2			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.224G>A	6.37:g.150211143C>T	ENSP00000349709:p.Gly75Asp	Somatic		Capture	Illumina HiSeq	Phase_I	150252836	NM_139165	A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193522	0.38707	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948;ENST00000531073	T;T;T;T;T	0.24908	1.83;1.83;5.72;1.83;3.17	3.85	1.02	0.19986	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.292994	0.24766	N	0.035762	T	0.20455	0.0492	L	0.61218	1.895	0.09310	N	1	D;D;D	0.67145	0.996;0.995;0.988	P;P;P	0.61874	0.889;0.895;0.739	T	0.04360	-1.0957	10	0.49607	T	0.09	-9.7723	3.4419	0.07466	0.1992:0.5822:0.0:0.2186	.	75;39;75	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	D	75;75;39;75;75	ENSP00000437067:G75D;ENSP00000349709:G75D;ENSP00000356332:G39D;ENSP00000432366:G75D;ENSP00000433489:G75D	ENSP00000349709:G75D	G	-	2	0	RAET1E	150252836	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.509000	0.22707	0.190000	0.20209	0.591000	0.81541	GGC		0.512	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165	
ULBP1	80329	broad.mit.edu	37	6	150285252	150285252	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:150285252T>C	ENST00000229708.3	+	1	110	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	23					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.S23P(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GTCTGGCTGGTCCCGGGCAGG	0.667																																					p.S23P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T67C	6						.						48.0	52.0	51.0					6																	150285252		2203	4300	6503	150326945	SO:0001583	missense	80329	exon1			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.67T>C	6.37:g.150285252T>C	ENSP00000229708:p.Ser23Pro	Somatic		Capture	Illumina HiSeq	Phase_I	150326945	NM_025218	Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	t	9.945	1.218511	0.22373	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00717	5.79;5.79	0.82	-1.64	0.08318	.	.	.	.	.	T	0.00637	0.0021	M	0.80616	2.505	0.09310	N	1	D	0.58970	0.984	P	0.50617	0.646	T	0.34900	-0.9810	9	0.52906	T	0.07	.	2.2138	0.03955	0.0:0.2648:0.3168:0.4184	.	23	Q9BZM6	N2DL1_HUMAN	P	23	ENSP00000356314:S23P;ENSP00000229708:S23P	ENSP00000229708:S23P	S	+	1	0	ULBP1	150326945	.	.	0.001000	0.08648	0.009000	0.06853	.	.	-1.071000	0.03145	0.254000	0.18369	TCC		0.667	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2		
IYD	389434	broad.mit.edu	37	6	150713632	150713632	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:150713632G>T	ENST00000344419.3	+	3	662	c.522G>T	c.(520-522)aaG>aaT	p.K174N	IYD_ENST00000229447.5_Missense_Mutation_p.K174N|IYD_ENST00000392256.2_Missense_Mutation_p.K174N|IYD_ENST00000392255.3_Missense_Mutation_p.K174N|IYD_ENST00000500320.3_Missense_Mutation_p.K174N|IYD_ENST00000425615.3_Missense_Mutation_p.K119N	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	174					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.K174N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CAGACCTCAAGAAACTGAGGT	0.473																																					p.K174N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G522T	6						.						103.0	83.0	90.0					6																	150713632		2203	4300	6503	150755325	SO:0001583	missense	389434	exon3			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.522G>T	6.37:g.150713632G>T	ENSP00000343763:p.Lys174Asn	Somatic		Capture	Illumina HiSeq	Phase_I	150755325	NM_001164695	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716709	0.48622	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	D;T;D;D;D;D	0.87334	-2.24;-0.59;-2.21;-2.21;-2.23;-2.18	5.92	5.92	0.95590	Nitroreductase-like (3);	0.213265	0.49916	D	0.000121	D	0.86867	0.6036	L	0.56124	1.755	0.53005	D	0.999963	B;P;P;P	0.48407	0.437;0.91;0.9;0.861	P;P;P;P	0.53861	0.538;0.736;0.637;0.565	D	0.87587	0.2488	10	0.59425	D	0.04	-10.2637	12.9689	0.58501	0.1149:0.0:0.8851:0.0	.	92;174;174;174	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	N	174;174;174;174;174;119	ENSP00000229447:K174N;ENSP00000343763:K174N;ENSP00000376085:K174N;ENSP00000376084:K174N;ENSP00000441276:K174N;ENSP00000390081:K119N	ENSP00000229447:K174N	K	+	3	2	IYD	150755325	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	2.999000	0.49473	2.813000	0.96785	0.561000	0.74099	AAG		0.473	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395	
MTHFD1L	25902	broad.mit.edu	37	6	151258063	151258063	+	Silent	SNP	G	G	A	rs371570169		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:151258063G>A	ENST00000367321.3	+	12	1654	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	RNU6-302P_ENST00000365249.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	460	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.T460T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AAGGACCGACGTTTGGAGTGA	0.478																																					p.T460T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1380A	6						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	105.0	94.0	98.0		1383,1185,1380	-4.3	0.6	6		98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	461/980,395/914,460/979	151258063	1,13005	2203	4300	6503	151299756	SO:0001819	synonymous_variant	25902	exon12			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1380G>A	6.37:g.151258063G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151299756	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	CCDS5228.1																																																																																				0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
AKAP12	9590	broad.mit.edu	37	6	151669940	151669940	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:151669940G>A	ENST00000253332.1	+	3	603	c.414G>A	c.(412-414)ggG>ggA	p.G138G	AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Silent_p.G138G|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000354675.6_Silent_p.G40G|AKAP12_ENST00000359755.5_Silent_p.G33G			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	138					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.G138G(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGATGATGGGCAGGAGGAGA	0.438																																					p.G138G	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G414A	6						.						85.0	78.0	81.0					6																	151669940		2203	4300	6503	151711633	SO:0001819	synonymous_variant	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.414G>A	6.37:g.151669940G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151711633	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.438	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
AKAP12	9590	broad.mit.edu	37	6	151673370	151673370	+	Missense_Mutation	SNP	G	G	A	rs368517285		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:151673370G>A	ENST00000253332.1	+	3	4033	c.3844G>A	c.(3844-3846)Gaa>Aaa	p.E1282K	AKAP12_ENST00000402676.2_Missense_Mutation_p.E1282K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1184K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1177K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1282					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E1282K(3)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACCATTTTTCGAAGGACTTGA	0.458																																					p.E1282K	Melanoma(141;1616 1805 10049 24534 51979)											.	.	3	Substitution - Missense(3)	large_intestine(2)|skin(1)	c.G3844A	6						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	82.0	79.0	80.0		3550,3844	-1.4	0.0	6		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AKAP12	NM_144497.2,NM_005100.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1184/1685,1282/1783	151673370	1,13005	2203	4300	6503	151715063	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3844G>A	6.37:g.151673370G>A	ENSP00000253332:p.Glu1282Lys	Somatic		Capture	Illumina HiSeq	Phase_I	151715063	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.059	0.767736	0.15983	0.0	1.16E-4	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.48	-1.38	0.09027	.	1.166780	0.06567	N	0.747894	T	0.00967	0.0032	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.48885	-0.8995	10	0.18710	T	0.47	.	1.0087	0.01492	0.3548:0.1151:0.3179:0.2122	.	1177;1184;1282	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1282;1282;1184;1177	ENSP00000384537:E1282K;ENSP00000253332:E1282K;ENSP00000346702:E1184K;ENSP00000352794:E1177K	ENSP00000253332:E1282K	E	+	1	0	AKAP12	151715063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.435000	0.21510	-0.217000	0.10033	-0.252000	0.11476	GAA		0.458	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
C6orf211	79624	broad.mit.edu	37	6	151779496	151779496	+	Missense_Mutation	SNP	C	C	A	rs560894715		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:151779496C>A	ENST00000367294.3	+	3	440	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	61								p.L61I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGCTATCTCTCTCCTTTCTAA	0.358																																					p.L61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	6						.						110.0	112.0	111.0					6																	151779496		2203	4299	6502	151821189	SO:0001583	missense	79624	exon3			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.181C>A	6.37:g.151779496C>A	ENSP00000356263:p.Leu61Ile	Somatic		Capture	Illumina HiSeq	Phase_I	151821189	NM_024573	Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478694	0.44044	.	.	ENSG00000146476	ENST00000367294	T	0.06933	3.24	5.85	4.97	0.65823	Domain of unknown function DUF89 (2);	0.118364	0.56097	D	0.000023	T	0.05135	0.0137	M	0.68317	2.08	0.80722	D	1	B	0.25235	0.121	B	0.32022	0.139	T	0.18808	-1.0325	10	0.38643	T	0.18	.	5.6062	0.17381	0.0:0.7407:0.0:0.2593	.	61	Q9H993	CF211_HUMAN	I	61	ENSP00000356263:L61I	ENSP00000356263:L61I	L	+	1	0	C6orf211	151821189	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.221000	0.42917	2.767000	0.95098	0.563000	0.77884	CTC		0.358	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
CCDC170	80129	broad.mit.edu	37	6	151917595	151917595	+	Silent	SNP	G	G	A	rs3757321	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:151917595G>A	ENST00000239374.7	+	9	1692	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A	CCDC170_ENST00000367290.5_Silent_p.A531A	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	531								p.A531A(2)									GGGACAACGCGCATCTTACCA	0.552													G|||	32	0.00638978	0.0053	0.0014	5008	,	,		17256	0.0228		0.0	False		,,,				2504	0.001				p.A531A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1593A	6						.	G		18,4296		0,18,2139	87.0	96.0	93.0		1593	3.7	0.0	6	dbSNP_107	93	1,8517		0,1,4258	no	coding-synonymous	C6orf97	NM_025059.3		0,19,6397	AA,AG,GG		0.0117,0.4172,0.1481		531/716	151917595	19,12813	2157	4259	6416	151959288	SO:0001819	synonymous_variant	80129	exon9			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1593G>A	6.37:g.151917595G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151959288	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																				0.552	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
ESR1	2099	broad.mit.edu	37	6	152419869	152419869	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152419869A>G	ENST00000206249.3	+	8	1918	c.1556A>G	c.(1555-1557)aAc>aGc	p.N519S	ESR1_ENST00000427531.2_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.N519S|ESR1_ENST00000456483.2_Missense_Mutation_p.N407S|ESR1_ENST00000338799.5_Missense_Mutation_p.N519S|ESR1_ENST00000406599.1_Missense_Mutation_p.N258S|ESR1_ENST00000443427.1_Missense_Mutation_p.N519S	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	519	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N519S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACCTACAGTAACAAAGGCATG	0.547																																					p.N519S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1556G	6						.						84.0	77.0	79.0					6																	152419869		2203	4300	6503	152461562	SO:0001583	missense	2099	exon9			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1556A>G	6.37:g.152419869A>G	ENSP00000206249:p.Asn519Ser	Somatic		Capture	Illumina HiSeq	Phase_I	152461562	NM_001122740	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562255	0.86335	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.31	5.31	0.75309	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.63208	1.945	0.80722	D	1	D;D;D;D;P;P;P	0.89917	0.997;0.997;1.0;0.975;0.801;0.937;0.949	D;D;D;P;B;P;P	0.81914	0.989;0.995;0.989;0.7;0.351;0.719;0.816	D	0.98243	1.0489	10	0.87932	D	0	.	15.268	0.73678	1.0:0.0:0.0:0.0	.	194;84;258;446;518;519;519	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	S	519;519;407;194;519;519;258;106;447	ENSP00000405330:N519S;ENSP00000342630:N519S;ENSP00000415934:N407S;ENSP00000387500:N519S;ENSP00000206249:N519S;ENSP00000384064:N258S	ENSP00000206249:N519S	N	+	2	0	ESR1	152461562	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.233000	0.95337	2.019000	0.59389	0.533000	0.62120	AAC		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	broad.mit.edu	37	6	152599288	152599288	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152599288C>A	ENST00000367255.5	-	98	19110	c.18509G>T	c.(18508-18510)aGa>aTa	p.R6170I	SYNE1_ENST00000423061.1_Missense_Mutation_p.R6099I|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6170I|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5782I|SYNE1_ENST00000356820.4_Missense_Mutation_p.R694I|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6099I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6170					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R6170I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGAGCCTTCTCAGCTTTCC	0.577										HNSCC(10;0.0054)																											p.R694I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2081T	6						.						105.0	108.0	107.0					6																	152599288		2203	4300	6503	152640981	SO:0001583	missense	23345	exon13			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18509G>T	6.37:g.152599288C>A	ENSP00000356224:p.Arg6170Ile	Somatic		Capture	Illumina HiSeq	Phase_I	152640981	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615949	0.87359	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.57595	0.48;0.47;0.39;0.48;0.62;0.92	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000011	T	0.63570	0.2522	M	0.67953	2.075	0.58432	D	0.999999	D;D;D;D	0.63880	0.981;0.987;0.987;0.993	P;P;P;P	0.59889	0.779;0.736;0.736;0.865	T	0.66874	-0.5813	10	0.72032	D	0.01	.	19.2791	0.94044	0.0:1.0:0.0:0.0	.	585;6170;6170;6099	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	6170;6099;6170;6099;5782;694	ENSP00000356224:R6170I;ENSP00000396024:R6099I;ENSP00000265368:R6170I;ENSP00000390975:R6099I;ENSP00000341887:R5782I;ENSP00000349276:R694I	ENSP00000265368:R6170I	R	-	2	0	SYNE1	152640981	0.992000	0.36948	0.825000	0.32803	0.957000	0.61999	3.053000	0.49901	2.612000	0.88384	0.563000	0.77884	AGA		0.577	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152602950	152602950	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152602950C>T	ENST00000367255.5	-	97	18974	c.18373G>A	c.(18373-18375)Gac>Aac	p.D6125N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D6054N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6125N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5737N|SYNE1_ENST00000356820.4_Missense_Mutation_p.D649N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6054N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6125					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D6125N(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCAGTCCATAAGCTGG	0.478										HNSCC(10;0.0054)																											p.D649N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1945A	6						.						70.0	62.0	65.0					6																	152602950		2203	4300	6503	152644643	SO:0001583	missense	23345	exon12			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18373G>A	6.37:g.152602950C>T	ENSP00000356224:p.Asp6125Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152644643	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986302	0.93044	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56103	0.58;0.56;0.48;0.56;0.69;0.94	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000008	T	0.68339	0.2990	M	0.69823	2.125	0.58432	D	0.999998	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.76575	0.776;0.972;0.972;0.988	T	0.71217	-0.4658	10	0.72032	D	0.01	.	19.1552	0.93507	0.0:1.0:0.0:0.0	.	540;6125;6125;6054	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	6125;6054;6125;6054;5737;649	ENSP00000356224:D6125N;ENSP00000396024:D6054N;ENSP00000265368:D6125N;ENSP00000390975:D6054N;ENSP00000341887:D5737N;ENSP00000349276:D649N	ENSP00000265368:D6125N	D	-	1	0	SYNE1	152644643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.427000	0.80284	2.606000	0.88127	0.591000	0.81541	GAC		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152605206	152605206	+	Silent	SNP	C	C	T	rs149923357	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152605206C>T	ENST00000367255.5	-	96	18715	c.18114G>A	c.(18112-18114)gcG>gcA	p.A6038A	SYNE1_ENST00000423061.1_Silent_p.A5967A|SYNE1_ENST00000265368.4_Silent_p.A6038A|SYNE1_ENST00000341594.5_Silent_p.A5650A|SYNE1_ENST00000356820.4_Silent_p.A562A|SYNE1_ENST00000448038.1_Silent_p.A5967A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6038					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A6038A(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGCTGCTCCGCAGGGTCGG	0.552										HNSCC(10;0.0054)			C|||	5	0.000998403	0.0038	0.0	5008	,	,		18506	0.0		0.0	False		,,,				2504	0.0				p.A562A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1686A	6						.	C	,	20,4386	27.2+/-55.0	0,20,2183	79.0	77.0	78.0		17901,18114	-7.9	0.0	6	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	,	5967/8750,6038/8798	152605206	20,12986	2203	4300	6503	152646899	SO:0001819	synonymous_variant	23345	exon11			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18114G>A	6.37:g.152605206C>T		Somatic		Capture	Illumina HiSeq	Phase_I	152646899	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152644767	152644767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152644767C>T	ENST00000367255.5	-	82	16364	c.15763G>A	c.(15763-15765)Gac>Aac	p.D5255N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D5184N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5255N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4948N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5184N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5255					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D5255N(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGAACGTGTCGTGGTATTCA	0.537										HNSCC(10;0.0054)																											p.D5184N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G15550A	6						.						98.0	93.0	95.0					6																	152644767		2203	4300	6503	152686460	SO:0001583	missense	23345	exon81			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15763G>A	6.37:g.152644767C>T	ENSP00000356224:p.Asp5255Asn	Somatic		Capture	Illumina HiSeq	Phase_I	152686460	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	9.103	1.004577	0.19199	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.25	5.25	0.73442	.	0.314947	0.27109	N	0.020900	T	0.22044	0.0531	M	0.67953	2.075	0.80722	D	1	B;B;B;P	0.46277	0.099;0.146;0.146;0.875	B;B;B;B	0.35899	0.022;0.016;0.016;0.213	T	0.15983	-1.0418	10	0.59425	D	0.04	.	11.8828	0.52586	0.0:0.8744:0.0:0.1256	.	5255;5255;5255;5184	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	5255;5184;5255;5184;4948	ENSP00000356224:D5255N;ENSP00000396024:D5184N;ENSP00000265368:D5255N;ENSP00000390975:D5184N;ENSP00000341887:D4948N	ENSP00000265368:D5255N	D	-	1	0	SYNE1	152686460	0.996000	0.38824	0.186000	0.23195	0.010000	0.07245	3.285000	0.51716	2.445000	0.82738	0.591000	0.81541	GAC		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152679555	152679555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152679555G>T	ENST00000367255.5	-	66	11162	c.10561C>A	c.(10561-10563)Ctt>Att	p.L3521I	SYNE1_ENST00000423061.1_Missense_Mutation_p.L3528I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3521I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3492I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3528I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3521					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L3521I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACCTTCAAGAACTGAATAC	0.423										HNSCC(10;0.0054)																											p.L3528I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10582A	6						.						207.0	184.0	192.0					6																	152679555		2203	4300	6503	152721248	SO:0001583	missense	23345	exon66			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10561C>A	6.37:g.152679555G>T	ENSP00000356224:p.Leu3521Ile	Somatic		Capture	Illumina HiSeq	Phase_I	152721248	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856841	0.51376	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.34;0.73;1.34;0.73	5.35	5.35	0.76521	.	0.122950	0.36778	N	0.002420	T	0.51907	0.1702	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.52577	0.924;0.924;0.924;0.954	P;P;P;P	0.57371	0.663;0.663;0.663;0.819	T	0.39683	-0.9602	10	0.20046	T	0.44	.	19.0515	0.93049	0.0:0.0:1.0:0.0	.	3521;3521;3521;3528	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	3521;3528;3521;3528;3492	ENSP00000356224:L3521I;ENSP00000396024:L3528I;ENSP00000265368:L3521I;ENSP00000390975:L3528I;ENSP00000341887:L3492I	ENSP00000265368:L3521I	L	-	1	0	SYNE1	152721248	1.000000	0.71417	0.891000	0.34965	0.672000	0.39443	8.960000	0.93117	2.518000	0.84900	0.561000	0.74099	CTT		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152722475	152722475	+	Splice_Site	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152722475A>C	ENST00000367255.5	-	47	7428	c.6827T>G	c.(6826-6828)tTt>tGt	p.F2276C	SYNE1_ENST00000423061.1_Splice_Site_p.F2283C|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000265368.4_Splice_Site_p.F2276C|SYNE1_ENST00000341594.5_Splice_Site_p.F2313C|SYNE1_ENST00000448038.1_Splice_Site_p.F2283C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2276					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F2276C(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTCTATAAACTAAATATC	0.378										HNSCC(10;0.0054)																											p.F2283C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T6848G	6						.						60.0	58.0	59.0					6																	152722475		2203	4300	6503	152764168	SO:0001630	splice_region_variant	23345	exon47			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6826-1T>G	6.37:g.152722475A>C		Somatic		Capture	Illumina HiSeq	Phase_I	152764168	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300455	0.60195	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000006	T	0.44993	0.1320	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.991	D;P;P;P	0.64042	0.921;0.706;0.706;0.872	T	0.31779	-0.9931	10	0.38643	T	0.18	.	16.1742	0.81840	1.0:0.0:0.0:0.0	.	2259;2276;2276;2283	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	2276;2283;2276;2283;2313	ENSP00000356224:F2276C;ENSP00000396024:F2283C;ENSP00000265368:F2276C;ENSP00000390975:F2283C;ENSP00000341887:F2313C	ENSP00000265368:F2276C	F	-	2	0	SYNE1	152764168	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.236000	0.72339	2.223000	0.72356	0.482000	0.46254	TTT		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation
SYNE1	23345	broad.mit.edu	37	6	152725404	152725404	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152725404T>C	ENST00000367255.5	-	46	7370	c.6769A>G	c.(6769-6771)Aaa>Gaa	p.K2257E	SYNE1_ENST00000423061.1_Missense_Mutation_p.K2264E|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000265368.4_Missense_Mutation_p.K2257E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K2294E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K2264E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2257					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K2257E(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTAACTTTGGAATGCAGT	0.338										HNSCC(10;0.0054)																											p.K2264E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6790G	6						.						153.0	158.0	156.0					6																	152725404		2201	4297	6498	152767097	SO:0001583	missense	23345	exon46			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6769A>G	6.37:g.152725404T>C	ENSP00000356224:p.Lys2257Glu	Somatic		Capture	Illumina HiSeq	Phase_I	152767097	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257463	0.59321	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.39	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	T	0.37652	0.1011	M	0.61703	1.905	0.80722	D	1	P;D;D;D	0.62365	0.799;0.991;0.991;0.96	B;P;P;P	0.51742	0.318;0.678;0.678;0.52	T	0.15752	-1.0426	10	0.41790	T	0.15	.	16.0973	0.81135	0.0:0.0:0.0:1.0	.	2240;2257;2257;2264	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	2257;2264;2257;2264;2294	ENSP00000356224:K2257E;ENSP00000396024:K2264E;ENSP00000265368:K2257E;ENSP00000390975:K2264E;ENSP00000341887:K2294E	ENSP00000265368:K2257E	K	-	1	0	SYNE1	152767097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.762000	0.62250	2.263000	0.75096	0.377000	0.23210	AAA		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152728313	152728313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152728313C>A	ENST00000367255.5	-	45	7160	c.6559G>T	c.(6559-6561)Gaa>Taa	p.E2187*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2194*|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2187*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2224*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2194*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2187					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E2187*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCATGTTTTCTTCAAGTTTC	0.438										HNSCC(10;0.0054)																											p.E2194X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6580T	6						.						95.0	81.0	86.0					6																	152728313		2203	4300	6503	152770006	SO:0001587	stop_gained	23345	exon45			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6559G>T	6.37:g.152728313C>A	ENSP00000356224:p.Glu2187*	Somatic		Capture	Illumina HiSeq	Phase_I	152770006	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	50	16.839204	0.99873	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.27	5.27	0.74061	.	0.095817	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.2565	0.93948	0.0:1.0:0.0:0.0	.	.	.	.	X	2187;2194;2187;2194;2224	.	ENSP00000265368:E2187X	E	-	1	0	SYNE1	152770006	1.000000	0.71417	0.613000	0.29037	0.631000	0.37964	6.818000	0.75257	2.642000	0.89623	0.462000	0.41574	GAA		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152768678	152768678	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:152768678G>T	ENST00000367255.5	-	29	4185	c.3584C>A	c.(3583-3585)tCt>tAt	p.S1195Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S1202Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1195Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1185Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1195Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1261Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1202Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1195Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1195					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S1195Y(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTCAGAAGAAACTTCTGT	0.453										HNSCC(10;0.0054)																											p.S1202Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3605A	6						.						95.0	93.0	93.0					6																	152768678		2203	4300	6503	152810371	SO:0001583	missense	23345	exon29			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3584C>A	6.37:g.152768678G>T	ENSP00000356224:p.Ser1195Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	152810371	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721626	0.68959	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.9	5.9	0.94986	.	0.103731	0.43747	D	0.000536	T	0.49712	0.1573	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.998;0.996;0.998	D;D;D;D;D;D	0.74023	0.943;0.935;0.982;0.942;0.935;0.971	T	0.40961	-0.9535	10	0.44086	T	0.13	.	15.1045	0.72310	0.0:0.151:0.849:0.0	.	1178;1195;1185;1195;1195;1202	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Y	1195;1202;1195;1202;1261;1195;1185;1195	ENSP00000356224:S1195Y;ENSP00000396024:S1202Y;ENSP00000265368:S1195Y;ENSP00000390975:S1202Y;ENSP00000341887:S1261Y;ENSP00000356222:S1195Y;ENSP00000356217:S1185Y;ENSP00000414510:S1195Y	ENSP00000265368:S1195Y	S	-	2	0	SYNE1	152810371	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.277000	0.58939	2.798000	0.96311	0.650000	0.86243	TCT		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TIAM2	26230	broad.mit.edu	37	6	155458685	155458685	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:155458685G>T	ENST00000461783.3	+	7	2842	c.1569G>T	c.(1567-1569)aaG>aaT	p.K523N	TIAM2_ENST00000318981.5_Missense_Mutation_p.K523N|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.K523N|TIAM2_ENST00000529824.2_Missense_Mutation_p.K523N|TIAM2_ENST00000456144.1_Missense_Mutation_p.K523N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	523	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K523N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGTGCAGAAGGAAAGGAAGC	0.557																																					p.K523N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1569T	6						.						74.0	77.0	76.0					6																	155458685		2203	4300	6503	155500377	SO:0001583	missense	26230	exon4				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1569G>T	6.37:g.155458685G>T	ENSP00000437188:p.Lys523Asn	Somatic		Capture	Illumina HiSeq	Phase_I	155500377	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517343	0.64634	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	6.08	1.87	0.25490	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80516	-0.1348	10	0.87932	D	0	.	7.6019	0.28081	0.4762:0.0:0.5238:0.0	.	523;523	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	N	523;769;523;523;523;523;523	ENSP00000437188:K523N;ENSP00000434901:K523N;ENSP00000407746:K523N;ENSP00000327315:K523N;ENSP00000353528:K523N;ENSP00000433348:K523N	ENSP00000327315:K523N	K	+	3	2	TIAM2	155500377	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.803000	0.38863	0.470000	0.27294	-0.140000	0.14226	AAG		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
ARID1B	57492	broad.mit.edu	37	6	157502256	157502256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:157502256C>T	ENST00000350026.5	+	11	3251	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	ARID1B_ENST00000346085.5_Missense_Mutation_p.P1097S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1137S|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1079S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1084	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P1079S(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGCAAGAAGCCCCTGGACCT	0.562																																					p.P1084S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3250T	6						.						69.0	65.0	67.0					6																	157502256		2203	4296	6499	157543948	SO:0001583	missense	57492	exon11			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3250C>T	6.37:g.157502256C>T	ENSP00000055163:p.Pro1084Ser	Somatic		Capture	Illumina HiSeq	Phase_I	157543948	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	33	5.218637	0.95104	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	L	0.52126	1.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.73534	-0.3952	10	0.72032	D	0.01	.	19.9719	0.97287	0.0:1.0:0.0:0.0	.	334;1084;1097;1079	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	S	1097;1084;1137;1079;554;606;559;151	ENSP00000344546:P1097S;ENSP00000055163:P1084S;ENSP00000356116:P1137S;ENSP00000275248:P1079S;ENSP00000412835:P606S;ENSP00000313006:P559S;ENSP00000383596:P151S	ENSP00000275248:P1079S	P	+	1	0	ARID1B	157543948	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.718000	0.92993	0.650000	0.86243	CCC		0.562	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
TULP4	56995	broad.mit.edu	37	6	158850873	158850873	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:158850873G>A	ENST00000367097.3	+	3	1844	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	TULP4_ENST00000367094.2_Missense_Mutation_p.E163K	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	163					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E163K(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGGTCATCCGAAATCAACTT	0.458																																					p.E163K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	6						.						241.0	211.0	221.0					6																	158850873		2203	4300	6503	158770861	SO:0001583	missense	56995	exon3				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.487G>A	6.37:g.158850873G>A	ENSP00000356064:p.Glu163Lys	Somatic		Capture	Illumina HiSeq	Phase_I	158770861	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	36	5.954806	0.97139	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.16457	2.34;2.34	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054700	0.64402	D	0.000001	T	0.24431	0.0592	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.981;0.998;0.998	P;D;P	0.73380	0.541;0.98;0.906	T	0.05716	-1.0868	10	0.06757	T	0.87	-32.6513	18.9528	0.92646	0.0:0.0:1.0:0.0	.	163;163;163	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	K	163	ENSP00000356064:E163K;ENSP00000356061:E163K	ENSP00000356061:E163K	E	+	1	0	TULP4	158770861	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.751000	0.98889	2.479000	0.83701	0.655000	0.94253	GAA		0.458	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
FNDC1	84624	broad.mit.edu	37	6	159636168	159636168	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:159636168G>A	ENST00000297267.9	+	5	852	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E218K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	218	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E218K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGACACACGAAATTAAAAA	0.433																																					p.E218K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	6						.						87.0	87.0	87.0					6																	159636168		1876	4104	5980	159556156	SO:0001583	missense	84624	exon5			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.652G>A	6.37:g.159636168G>A	ENSP00000297267:p.Glu218Lys	Somatic		Capture	Illumina HiSeq	Phase_I	159556156	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.134848|3.134848	0.56828|0.56828	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.52526|.	0.66;0.66|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.304574|.	0.36591|.	N|.	0.002502|.	T|T	0.46444|0.46444	0.1393|0.1393	N|N	0.22421|0.22421	0.69|0.69	0.43536|0.43536	D|D	0.995821|0.995821	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.74348|.	0.983;0.883|.	T|T	0.33854|0.33854	-0.9852|-0.9852	10|5	0.48119|.	T|.	0.1|.	-25.3682|-25.3682	20.2233|20.2233	0.98332|0.98332	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	218;218|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	K|Q	218|176	ENSP00000297267:E218K;ENSP00000342460:E218K|.	ENSP00000297267:E218K|.	E|R	+|+	1|2	0|0	FNDC1|FNDC1	159556156|159556156	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.985000|0.985000	0.73830|0.73830	6.402000|6.402000	0.73260|0.73260	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.433	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159672347	159672347	+	Silent	SNP	G	G	A	rs45576631	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:159672347G>A	ENST00000297267.9	+	17	5048	c.4848G>A	c.(4846-4848)acG>acA	p.T1616T	FNDC1_ENST00000340366.6_Silent_p.T1553T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1616					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T1616T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTTACGTGACGTACCTAAATA	0.483													G|||	4	0.000798722	0.0	0.0	5008	,	,		21846	0.0		0.003	False		,,,				2504	0.001				p.T1616T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4848A	6						.	G		3,3983		0,3,1990	64.0	61.0	62.0		4848	-11.1	0.9	6	dbSNP_127	62	27,8295		0,27,4134	no	coding-synonymous	FNDC1	NM_032532.2		0,30,6124	AA,AG,GG		0.3244,0.0753,0.2437		1616/1895	159672347	30,12278	1993	4161	6154	159592337	SO:0001819	synonymous_variant	84624	exon17			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4848G>A	6.37:g.159672347G>A		Somatic		Capture	Illumina HiSeq	Phase_I	159592337	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	6.526	0.465266	0.12402	7.53E-4	0.003244	ENSG00000164694	ENST00000329629	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.12774	0.0310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46857	-0.9161	4	.	.	.	-6.9154	0.3669	0.00373	0.3298:0.2407:0.1503:0.2791	rs45576631	.	.	.	I	1512	.	.	V	+	1	0	FNDC1	159592337	0.001000	0.12720	0.917000	0.36280	0.951000	0.60555	-1.355000	0.02612	-3.216000	0.00213	-1.099000	0.02127	GTA		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
MAS1	4142	broad.mit.edu	37	6	160328213	160328213	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:160328213G>A	ENST00000252660.4	+	1	240	c.226G>A	c.(226-228)Gca>Aca	p.A76T		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	76					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.A76T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CCTGTCTATCGCAGACATCTC	0.443																																					p.A76T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	6						.						293.0	281.0	285.0					6																	160328213		2203	4300	6503	160248203	SO:0001583	missense	4142	exon1			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.226G>A	6.37:g.160328213G>A	ENSP00000252660:p.Ala76Thr	Somatic		Capture	Illumina HiSeq	Phase_I	160248203	NM_002377	E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957255	0.53400	.	.	ENSG00000130368	ENST00000252660	T	0.78003	-1.14	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	D	0.87458	0.6182	M	0.86420	2.815	0.54753	D	0.999983	D	0.69078	0.997	P	0.61592	0.891	D	0.88826	0.3302	10	0.72032	D	0.01	.	18.8544	0.92246	0.0:0.0:1.0:0.0	.	76	P04201	MAS_HUMAN	T	76	ENSP00000252660:A76T	ENSP00000252660:A76T	A	+	1	0	MAS1	160248203	1.000000	0.71417	0.167000	0.22817	0.015000	0.08874	7.211000	0.77933	2.701000	0.92244	0.655000	0.94253	GCA		0.443	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377	
IGF2R	3482	broad.mit.edu	37	6	160484559	160484559	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:160484559C>A	ENST00000356956.1	+	27	3931	c.3783C>A	c.(3781-3783)gtC>gtA	p.V1261V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1261					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V1261V(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACTTCCGGGTCTGTGGGAAGC	0.542																																					p.V1261V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3783A	6						.						108.0	102.0	104.0					6																	160484559		2203	4300	6503	160404549	SO:0001819	synonymous_variant	3482	exon27			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3783C>A	6.37:g.160484559C>A		Somatic		Capture	Illumina HiSeq	Phase_I	160404549	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																				0.542	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
LPA	4018	broad.mit.edu	37	6	161012014	161012014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:161012014G>T	ENST00000316300.5	-	23	3793	c.3749C>A	c.(3748-3750)tCa>tAa	p.S1250*	LPA_ENST00000447678.1_Nonsense_Mutation_p.S1250*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3758	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.S1250*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGGACACTTGATTCTGTCAC	0.473																																					p.S1250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3749A	6						.						115.0	115.0	115.0					6																	161012014		2185	4297	6482	160932004	SO:0001587	stop_gained	4018	exon24			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3749C>A	6.37:g.161012014G>T	ENSP00000321334:p.Ser1250*	Somatic		Capture	Illumina HiSeq	Phase_I	160932004	NM_005577	Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	38	6.711769	0.97780	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	1.46	-2.33	0.06724	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.6385	0.08158	0.0:0.3299:0.2803:0.3898	.	.	.	.	X	1250	.	ENSP00000321334:S1250X	S	-	2	0	LPA	160932004	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.292000	0.08332	-0.532000	0.06332	0.205000	0.17691	TCA		0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
MAP3K4	4216	broad.mit.edu	37	6	161470128	161470128	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:161470128G>A	ENST00000392142.4	+	3	972	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R275Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R275Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R275Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	275					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R275Q(4)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATGCAGGACGGACAATTAAC	0.433																																					p.R275Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G824A	6						.						64.0	65.0	65.0					6																	161470128		2203	4300	6503	161390118	SO:0001583	missense	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.824G>A	6.37:g.161470128G>A	ENSP00000375986:p.Arg275Gln	Somatic		Capture	Illumina HiSeq	Phase_I	161390118	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608994	0.96637	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.59059	-0.7525	10	0.87932	D	0	-34.585	20.819	0.99723	0.0:0.0:1.0:0.0	.	275;275	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	Q	275	ENSP00000355886:R275Q;ENSP00000375986:R275Q;ENSP00000355887:R275Q;ENSP00000297332:R275Q	ENSP00000297332:R275Q	R	+	2	0	MAP3K4	161390118	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.432000	0.97498	2.927000	0.99377	0.637000	0.83480	CGG		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
PARK2	5071	broad.mit.edu	37	6	161990440	161990440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:161990440G>A	ENST00000366898.1	-	8	982	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	PARK2_ENST00000366894.1_Missense_Mutation_p.P103S|PARK2_ENST00000338468.3_Missense_Mutation_p.P103S|PARK2_ENST00000366892.1_Missense_Mutation_p.P294S|PARK2_ENST00000366896.1_Missense_Mutation_p.P145S|PARK2_ENST00000366897.1_Missense_Mutation_p.P266S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	294					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.P294S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AAGGAGTTGGGACAGCCAGCT	0.428																																					p.P294S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C880T	6						.						115.0	111.0	113.0					6																	161990440		2203	4300	6503	161910430	SO:0001583	missense	5071	exon8				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.880C>T	6.37:g.161990440G>A	ENSP00000355865:p.Pro294Ser	Somatic		Capture	Illumina HiSeq	Phase_I	161910430	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968168	0.53614	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.11	4.24	0.50183	.	0.538501	0.17998	N	0.154995	D	0.82403	0.5029	L	0.45228	1.405	0.31416	N	0.674913	D;B;P;P;D	0.89917	1.0;0.001;0.894;0.894;0.995	D;B;B;B;P	0.91635	0.999;0.003;0.391;0.391;0.859	T	0.74627	-0.3602	10	0.06625	T	0.88	.	11.498	0.50419	0.0832:0.0:0.9168:0.0	.	313;145;266;294;103	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	S	294;266;145;103;103;103;294	ENSP00000355865:P294S;ENSP00000355863:P266S;ENSP00000355862:P145S;ENSP00000355860:P103S;ENSP00000343589:P103S;ENSP00000355858:P294S	ENSP00000343589:P103S	P	-	1	0	PARK2	161910430	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.796000	0.62496	1.154000	0.42482	0.643000	0.83706	CCC		0.428	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
QKI	9444	broad.mit.edu	37	6	163987756	163987756	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:163987756C>T	ENST00000361752.3	+	7	1489	c.938C>T	c.(937-939)gCg>gTg	p.A313V	QKI_ENST00000453779.2_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000361195.2_Missense_Mutation_p.A305V|QKI_ENST00000275262.7_3'UTR	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	313					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A313V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAACTAGGTGCGGTGGCTACT	0.403																																					p.A313V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C938T	6						.						108.0	93.0	98.0					6																	163987756		2203	4300	6503	163907746	SO:0001583	missense	9444	exon7			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.938C>T	6.37:g.163987756C>T	ENSP00000355094:p.Ala313Val	Somatic		Capture	Illumina HiSeq	Phase_I	163907746	NM_006775	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243710	0.58995	.	.	ENSG00000112531	ENST00000361752;ENST00000361195	.	.	.	5.67	5.67	0.87782	.	0.211811	0.48286	D	0.000190	T	0.40670	0.1126	L	0.46157	1.445	0.80722	D	1	P;P	0.47841	0.901;0.87	B;B	0.34418	0.182;0.119	T	0.54029	-0.8354	9	0.72032	D	0.01	-1.6504	20.1358	0.98028	0.0:1.0:0.0:0.0	.	305;313	Q96PU8-3;Q96PU8	.;QKI_HUMAN	V	313;305	.	ENSP00000354867:A305V	A	+	2	0	QKI	163907746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.833000	0.97629	0.585000	0.79938	GCG		0.403	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
UNC93A	54346	broad.mit.edu	37	6	167728785	167728785	+	Missense_Mutation	SNP	G	G	A	rs549125660	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:167728785G>A	ENST00000230256.3	+	8	1394	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	UNC93A_ENST00000366829.2_Missense_Mutation_p.V365M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	407						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V407M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTTTTTGTGCGTGCACGTCAA	0.572													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16693	0.0		0.0	False		,,,				2504	0.0				p.V365M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1093A	6						.						111.0	159.0	143.0					6																	167728785		2203	4300	6503	167648775	SO:0001583	missense	54346	exon7			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1219G>A	6.37:g.167728785G>A	ENSP00000230256:p.Val407Met	Somatic		Capture	Illumina HiSeq	Phase_I	167648775	NM_001143947	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804664	0.31961	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.80909	-1.43;-1.43	3.86	2.99	0.34606	Major facilitator superfamily domain, general substrate transporter (1);	0.153083	0.43919	D	0.000504	T	0.59404	0.2191	M	0.64170	1.965	0.50171	D	0.999856	P;P	0.42337	0.776;0.65	B;B	0.33121	0.158;0.158	T	0.58691	-0.7592	10	0.28530	T	0.3	-35.5019	10.358	0.43975	0.0996:0.0:0.9004:0.0	.	365;407	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	407;365	ENSP00000230256:V407M;ENSP00000355794:V365M	ENSP00000230256:V407M	V	+	1	0	UNC93A	167648775	1.000000	0.71417	0.005000	0.12908	0.001000	0.01503	2.401000	0.44513	0.759000	0.33084	0.462000	0.41574	GTG		0.572	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
MLLT4	4301	broad.mit.edu	37	6	168352447	168352447	+	Silent	SNP	C	C	T	rs199757028	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:168352447C>T	ENST00000447894.2	+	29	4392	c.4392C>T	c.(4390-4392)ccC>ccT	p.P1464P	MLLT4_ENST00000366806.2_Silent_p.P1464P|MLLT4_ENST00000400822.3_Silent_p.P1463P|MLLT4_ENST00000344191.4_Silent_p.P1464P|MLLT4_ENST00000392108.3_Silent_p.P1464P|MLLT4_ENST00000392112.1_Silent_p.P1447P|MLLT4_ENST00000351017.4_Silent_p.P1471P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1464					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.P1448P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGATGAAGCCCGAAAAGCCTT	0.587			T	MLL	AL								C|||	12	0.00239617	0.0008	0.0	5008	,	,		17608	0.0		0.0	False		,,,				2504	0.0112				p.P1464P			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4392T	6						.						100.0	98.0	99.0					6																	168352447		2203	4300	6503	168095296	SO:0001819	synonymous_variant	4301	exon29			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4392C>T	6.37:g.168352447C>T		Somatic		Capture	Illumina HiSeq	Phase_I	168095296	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																					0.587	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
FRMD1	79981	broad.mit.edu	37	6	168467485	168467485	+	Silent	SNP	G	G	A	rs140475200		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:168467485G>A	ENST00000283309.6	-	4	475	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000432403.1_5'Flank|FRMD1_ENST00000440994.2_Silent_p.F69F	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	137	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.F137F(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAAGGCCACGAAGGGGGCTC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		16940	0.001		0.0	False		,,,				2504	0.0				p.F69F	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	6						.	G	,	2,4404	4.2+/-10.8	0,2,2201	76.0	74.0	75.0		207,411	-3.3	0.0	6	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FRMD1	NM_001122841.1,NM_024919.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	69/482,137/550	168467485	2,13004	2203	4300	6503	168210334	SO:0001819	synonymous_variant	79981	exon4				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.411C>T	6.37:g.168467485G>A		Somatic		Capture	Illumina HiSeq	Phase_I	168210334	NM_001122841	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	CCDS5306.1																																																																																				0.547	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919	
WDR27	253769	broad.mit.edu	37	6	170064343	170064343	+	Missense_Mutation	SNP	G	G	A	rs528781188	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:170064343G>A	ENST00000448612.1	-	8	932	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	WDR27_ENST00000423258.1_Missense_Mutation_p.R148C|WDR27_ENST00000333572.6_Missense_Mutation_p.R275C|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	245						nucleus (GO:0005634)		p.R275C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTGCCACACGACGATAATGG	0.527													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21686	0.0		0.001	False		,,,				2504	0.0				p.R275C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C823T	6						.						135.0	136.0	136.0					6																	170064343		2068	4209	6277	169806268	SO:0001583	missense	253769	exon8			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.823C>T	6.37:g.170064343G>A	ENSP00000416289:p.Arg275Cys	Somatic		Capture	Illumina HiSeq	Phase_I	169806268	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	6.478	0.456450	0.12283	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;D	0.96232	0.99;0.93;-3.95	5.18	-1.86	0.07760	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.691702	0.14572	N	0.311401	T	0.75391	0.3843	N	0.00972	-1.085	0.80722	D	1	B;B;B;B	0.12630	0.001;0.001;0.006;0.006	B;B;B;B	0.06405	0.0;0.001;0.002;0.0	T	0.55541	-0.8125	10	0.37606	T	0.19	-0.7454	9.9054	0.41372	0.5332:0.0:0.4668:0.0	.	275;245;148;275	F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.;WDR27_HUMAN;.;.	C	275;275;148	ENSP00000416289:R275C;ENSP00000330265:R275C;ENSP00000397869:R148C	ENSP00000330265:R275C	R	-	1	0	WDR27	169806268	0.195000	0.23338	0.224000	0.23877	0.017000	0.09413	0.508000	0.22692	-0.262000	0.09392	-0.469000	0.05056	CGT		0.527	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
TCTE3	6991	broad.mit.edu	37	6	170144362	170144362	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:170144362C>T	ENST00000366774.3	-	2	229	c.129G>A	c.(127-129)caG>caA	p.Q43Q		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	43					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.Q43Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTCTTAAAATCTGTGTATACT	0.368																																					p.Q43Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G129A	6						.						47.0	49.0	48.0					6																	170144362		2202	4300	6502	169886287	SO:0001819	synonymous_variant	6991	exon2			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.129G>A	6.37:g.170144362C>T		Somatic		Capture	Illumina HiSeq	Phase_I	169886287	NM_174910		Silent	SNP	ENST00000366774.3	37	CCDS5310.1																																																																																				0.368	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043243.1	NM_174910	
TUBB2A	7280	broad.mit.edu	37	6	3154127	3154127	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:3154127G>A	ENST00000333628.3	-	4	1370	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'Flank	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	436					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F436F(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCTCCTCCTCGAACTCCCCTT	0.537																																					p.F436F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308T	6						.						127.0	105.0	113.0					6																	3154127		2203	4300	6503	3099126	SO:0001819	synonymous_variant	7280	exon4			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.1308C>T	6.37:g.3154127G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3099126	NM_001069	Q6FGZ8|Q8IWR2	Silent	SNP	ENST00000333628.3	37	CCDS4484.1																																																																																				0.537	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069	
ECI2	10455	broad.mit.edu	37	6	4126460	4126460	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:4126460A>C	ENST00000380118.3	-	6	619	c.583T>G	c.(583-585)Tat>Gat	p.Y195D	ECI2_ENST00000413766.2_Missense_Mutation_p.Y28D|ECI2_ENST00000380125.2_Missense_Mutation_p.Y165D|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.Y165D|ECI2_ENST00000361538.2_Missense_Mutation_p.Y165D			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	195	ECH-like.			Y -> C (in Ref. 1; AAC19317). {ECO:0000305}.	fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)	p.Y165D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTACTGTAATAGTCACCATTT	0.383																																					p.Y195D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T583G	6						.						131.0	126.0	128.0					6																	4126460		2203	4300	6503	4071459	SO:0001583	missense	10455	exon6			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.583T>G	6.37:g.4126460A>C	ENSP00000369461:p.Tyr195Asp	Somatic		Capture	Illumina HiSeq	Phase_I	4071459	NM_206836	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044231	0.75732	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.61	5.61	0.85477	Crotonase, core (1);	0.163605	0.56097	D	0.000030	T	0.80105	0.4562	M	0.84585	2.705	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83373	0.0008	10	0.62326	D	0.03	.	14.9253	0.70871	1.0:0.0:0.0:0.0	.	195	O75521	ECI2_HUMAN	D	195;165;28;165;165	ENSP00000369461:Y195D;ENSP00000369468:Y165D;ENSP00000406969:Y28D;ENSP00000354737:Y165D;ENSP00000420309:Y165D	ENSP00000354737:Y165D	Y	-	1	0	ECI2	4071459	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	8.672000	0.91181	2.254000	0.74563	0.533000	0.62120	TAT		0.383	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	
CDYL	9425	broad.mit.edu	37	6	4943786	4943786	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:4943786C>T	ENST00000328908.5	+	7	1421	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CDYL_ENST00000397588.3_Silent_p.F376F|CDYL_ENST00000449732.2_Silent_p.F244F|CDYL_ENST00000343762.5_Silent_p.F244F|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	430					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.F430F(3)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTAGAAACTTCGTGAATACTT	0.338																																					p.F244F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C732T	6						.						64.0	67.0	66.0					6																	4943786		2203	4300	6503	4888785	SO:0001819	synonymous_variant	9425	exon5			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1290C>T	6.37:g.4943786C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4888785	NM_001143970	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																					0.338	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
DSP	1832	broad.mit.edu	37	6	7580158	7580158	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:7580158A>G	ENST00000379802.3	+	23	4076	c.3735A>G	c.(3733-3735)gaA>gaG	p.E1245E	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1245	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E1245E(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTTCAAGGGAAAATCGAGATC	0.438																																					p.E1245E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3735G	6						.						59.0	60.0	60.0					6																	7580158		2203	4300	6503	7525157	SO:0001819	synonymous_variant	1832	exon23			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3735A>G	6.37:g.7580158A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7525157	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																				0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
DSP	1832	broad.mit.edu	37	6	7583550	7583550	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:7583550G>A	ENST00000379802.3	+	24	6396	c.6055G>A	c.(6055-6057)Gct>Act	p.A2019T	DSP_ENST00000418664.2_Missense_Mutation_p.A1420T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2019	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A2019T(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGATCTATCGCTGGAGCATC	0.463																																					p.A1420T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4258A	6						.						58.0	63.0	61.0					6																	7583550		2203	4300	6503	7528549	SO:0001583	missense	1832	exon24			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6055G>A	6.37:g.7583550G>A	ENSP00000369129:p.Ala2019Thr	Somatic		Capture	Illumina HiSeq	Phase_I	7528549	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743449	0.89663	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.70986	-0.53;-0.53	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000020	D	0.82379	0.5024	M	0.82323	2.585	0.36931	D	0.89187	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.81931	-0.0707	10	0.34782	T	0.22	.	18.6091	0.91277	0.0:0.0:1.0:0.0	.	1467;2019	Q4LE79;P15924	.;DESP_HUMAN	T	2019;1420	ENSP00000369129:A2019T;ENSP00000396591:A1420T	ENSP00000369129:A2019T	A	+	1	0	DSP	7528549	1.000000	0.71417	0.187000	0.23214	0.980000	0.70556	7.803000	0.85983	2.459000	0.83118	0.655000	0.94253	GCT		0.463	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
FAM8A1	51439	broad.mit.edu	37	6	17605176	17605176	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:17605176A>C	ENST00000259963.3	+	3	928	c.873A>C	c.(871-873)gaA>gaC	p.E291D		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	291	RDD.					integral component of membrane (GO:0016021)		p.E291D(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TAATAGAAGAAATAGATGAAG	0.323																																					p.E291D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A873C	6						.						94.0	100.0	98.0					6																	17605176		2202	4300	6502	17713155	SO:0001583	missense	51439	exon3			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.873A>C	6.37:g.17605176A>C	ENSP00000259963:p.Glu291Asp	Somatic		Capture	Illumina HiSeq	Phase_I	17713155	NM_016255	B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732191	0.69189	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.84	4.69	0.59074	RDD (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	L	0.39397	1.21	0.58432	D	0.999997	D	0.76494	0.999	D	0.74023	0.982	T	0.58132	-0.7690	9	0.44086	T	0.13	-10.6391	11.0658	0.47974	0.9268:0.0:0.0732:0.0	.	291	Q9UBU6	FA8A1_HUMAN	D	41;291	.	ENSP00000259963:E291D	E	+	3	2	FAM8A1	17713155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.980000	0.49321	1.051000	0.40369	0.455000	0.32223	GAA		0.323	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1		
NUP153	9972	broad.mit.edu	37	6	17706514	17706514	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:17706514C>T	ENST00000262077.2	-	1	104	c.105G>A	c.(103-105)caG>caA	p.Q35Q	RP11-500C11.3_ENST00000606771.1_RNA|NUP153_ENST00000537253.1_Silent_p.Q35Q	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	35					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.Q35Q(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATACCTGATGCTGTTGTCGCC	0.721																																					p.Q35Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G105A	6						.						65.0	54.0	58.0					6																	17706514		2202	4299	6501	17814493	SO:0001819	synonymous_variant	9972	exon1			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.105G>A	6.37:g.17706514C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17814493	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																				0.721	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
DCDC2	51473	broad.mit.edu	37	6	24357761	24357761	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:24357761C>T	ENST00000378454.3	-	1	519	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	73	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.R73Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CTTCCGGATTCGGTGGCCAGT	0.612																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	6						.						40.0	38.0	39.0					6																	24357761		2203	4300	6503	24465740	SO:0001583	missense	51473	exon2			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.218G>A	6.37:g.24357761C>T	ENSP00000367715:p.Arg73Gln	Somatic		Capture	Illumina HiSeq	Phase_I	24465740	NM_001195610	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.965098|3.965098	0.74131|0.74131	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000436313|ENST00000378454;ENST00000451359	.|D	.|0.92495	.|-3.05	5.41|5.41	4.54|4.54	0.55810|0.55810	.|Doublecortin domain (5);	.|0.169948	.|0.50627	.|N	.|0.000107	D|D	0.93304|0.93304	0.7866|0.7866	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.72982	.|0.979	D|D	0.92694|0.92694	0.6169|0.6169	5|10	.|0.39692	.|T	.|0.17	-11.9565|-11.9565	14.125|14.125	0.65215|0.65215	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|73	.|Q9UHG0	.|DCDC2_HUMAN	K|Q	41|73	.|ENSP00000367715:R73Q	.|ENSP00000367715:R73Q	E|R	-|-	1|2	0|0	DCDC2|DCDC2	24465740|24465740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.755000|0.755000	0.42902|0.42902	4.618000|4.618000	0.61211|0.61211	1.290000|1.290000	0.44636|0.44636	0.467000|0.467000	0.42956|0.42956	GAA|CGA		0.612	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
LRRC16A	55604	broad.mit.edu	37	6	25581557	25581557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:25581557C>T	ENST00000329474.6	+	31	3264	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	966	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.R966W(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACAGGAGAAGCGGAGCTCGGG	0.463																																					p.R966W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2896T	6						.						39.0	41.0	40.0					6																	25581557		1834	4087	5921	25689536	SO:0001583	missense	55604	exon31			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2896C>T	6.37:g.25581557C>T	ENSP00000331983:p.Arg966Trp	Somatic		Capture	Illumina HiSeq	Phase_I	25689536	NM_017640	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022843	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.48201	0.82	5.76	2.64	0.31445	.	0.151648	0.39985	N	0.001216	T	0.56978	0.2022	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.958;0.958;0.981	T	0.65656	-0.6115	10	0.72032	D	0.01	.	15.9115	0.79477	0.3924:0.6076:0.0:0.0	.	966;966;966	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	966	ENSP00000331983:R966W	ENSP00000331983:R966W	R	+	1	2	LRRC16A	25689536	0.993000	0.37304	0.973000	0.42090	0.919000	0.55068	0.824000	0.27379	0.721000	0.32231	0.563000	0.77884	CGG		0.463	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
HIST1H3C	8352	broad.mit.edu	37	6	26045789	26045789	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:26045789G>A	ENST00000540144.1	+	1	151	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E51K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGCCTTGCGCGAAATCCGTCG	0.632																																					p.E51K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G151A	6						.						49.0	52.0	51.0					6																	26045789		2203	4300	6503	26153768	SO:0001583	missense	8352	exon1			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.151G>A	6.37:g.26045789G>A	ENSP00000439493:p.Glu51Lys	Somatic		Capture	Illumina HiSeq	Phase_I	26153768	NM_003531	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050920	0.55218	.	.	ENSG00000196532	ENST00000540144	T	0.55413	0.52	4.53	4.53	0.55603	.	.	.	.	.	T	0.63885	0.2549	.	.	.	0.46774	D	0.999191	.	.	.	.	.	.	T	0.69359	-0.5166	6	0.87932	D	0	.	17.1289	0.86722	0.0:0.0:1.0:0.0	.	.	.	.	K	51	ENSP00000439493:E51K	ENSP00000439493:E51K	E	+	1	0	HIST1H3C	26153768	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.494000	0.73661	2.460000	0.83146	0.491000	0.48974	GAA		0.632	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531	
PRSS16	10279	broad.mit.edu	37	6	27216929	27216929	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:27216929G>C	ENST00000230582.3	+	4	403	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	130					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.E130Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GATAAGCCTGGAACACAGATT	0.597																																					p.E130Q	NSCLC(178;1118 2105 17078 23587 44429)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388C	6						.						79.0	83.0	82.0					6																	27216929		2203	4300	6503	27324908	SO:0001583	missense	10279	exon4			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.388G>C	6.37:g.27216929G>C	ENSP00000230582:p.Glu130Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27324908	NM_005865	O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.89|15.89	2.965113|2.965113	0.53507|0.53507	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953|ENST00000485993;ENST00000475106	T|.	0.40756|.	1.02|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82467|0.82467	0.5043|0.5043	M|M	0.93462|0.93462	3.42|3.42	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D|.	0.89917|.	0.999;0.997;1.0|.	D;D;D|.	0.97110|.	0.996;0.992;1.0|.	D|D	0.87062|0.87062	0.2154|0.2154	10|5	0.87932|.	D|.	0|.	-36.7007|-36.7007	14.0762|14.0762	0.64891|0.64891	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	21;130;130|.	Q7Z5N6;C9JI59;Q9NQE7|.	.;.;TSSP_HUMAN|.	Q|A	130|21	ENSP00000230582:E130Q|.	ENSP00000230582:E130Q|.	E|G	+|+	1|2	0|0	PRSS16|PRSS16	27324908|27324908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.388000|0.388000	0.30384|0.30384	4.407000|4.407000	0.59754|0.59754	2.249000|2.249000	0.74217|0.74217	0.557000|0.557000	0.71058|0.71058	GAA|GGA		0.597	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
ZNF391	346157	broad.mit.edu	37	6	27368210	27368210	+	Missense_Mutation	SNP	G	G	A	rs374551320		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:27368210G>A	ENST00000244576.4	+	3	606	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E21K(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTATAAAAACGAAGGCCAATT	0.408																																					p.E21K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61A	6						.						107.0	98.0	101.0					6																	27368210		1844	4098	5942	27476189	SO:0001583	missense	346157	exon3			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.61G>A	6.37:g.27368210G>A	ENSP00000244576:p.Glu21Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27476189	NM_001076781	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560953	0.27827	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	T;T	0.08008	3.14;6.04	3.74	-4.03	0.04021	.	.	.	.	.	T	0.02230	0.0069	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43228	-0.9404	9	0.22109	T	0.4	.	6.7891	0.23689	0.5741:0.132:0.2938:0.0	.	21	Q9UJN7	ZN391_HUMAN	K	21	ENSP00000244576:E21K;ENSP00000419498:E21K	ENSP00000244576:E21K	E	+	1	0	ZNF391	27476189	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.364000	0.07583	-1.280000	0.02402	-0.136000	0.14681	GAA		0.408	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
ZKSCAN4	387032	broad.mit.edu	37	6	28213576	28213576	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:28213576C>T	ENST00000377294.2	-	5	1199	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.R164Q	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	319					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R319Q(2)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCAATAATGTCGCCTACTCCC	0.463																																					p.R319Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G956A	6						.						120.0	102.0	108.0					6																	28213576		2203	4300	6503	28321555	SO:0001583	missense	387032	exon5			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.956G>A	6.37:g.28213576C>T	ENSP00000366509:p.Arg319Gln	Somatic		Capture	Illumina HiSeq	Phase_I	28321555	NM_019110	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	1.930	-0.446281	0.04604	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.07444	3.19;3.19	5.1	1.65	0.23941	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01061	0.0035	L	0.28649	0.875	0.09310	N	1	P	0.36438	0.553	B	0.20955	0.032	T	0.43829	-0.9367	9	0.11794	T	0.64	.	3.0723	0.06235	0.1947:0.3433:0.0:0.462	.	319	Q969J2	ZKSC4_HUMAN	Q	319;164;25;195	ENSP00000366509:R319Q;ENSP00000401978:R164Q	ENSP00000349249:R195Q	R	-	2	0	ZKSCAN4	28321555	0.000000	0.05858	0.049000	0.19019	0.006000	0.05464	-0.770000	0.04705	0.587000	0.29643	0.655000	0.94253	CGA		0.463	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110	
ZNF311	282890	broad.mit.edu	37	6	28963989	28963989	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:28963989G>A	ENST00000377179.3	-	7	1302	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L264F(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGCTCATGGAGAATTAGATCT	0.398																																					p.L264F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790T	6						.						63.0	74.0	70.0					6																	28963989		1509	2708	4217	29071968	SO:0001583	missense	282890	exon7			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.790C>T	6.37:g.28963989G>A	ENSP00000366384:p.Leu264Phe	Somatic		Capture	Illumina HiSeq	Phase_I	29071968	NM_001010877	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	6.429	0.447272	0.12223	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.29655	1.56	3.69	1.6	0.23607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	L	0.38649	1.16	0.09310	N	1	D	0.59357	0.985	P	0.60949	0.881	T	0.06006	-1.0851	9	0.56958	D	0.05	-4.9776	10.9588	0.47372	0.0:0.3636:0.6364:0.0	.	264	Q5JNZ3	ZN311_HUMAN	F	264;172	ENSP00000366384:L264F	ENSP00000366384:L264F	L	-	1	0	ZNF311	29071968	0.000000	0.05858	0.825000	0.32803	0.273000	0.26683	-1.306000	0.02735	0.804000	0.34136	0.585000	0.79938	CTC		0.398	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	
OR2J3	442186	broad.mit.edu	37	6	29079946	29079946	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29079946G>T	ENST00000377169.1	+	1	279	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K93N(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCCCGGAAAAGACCATCTCTT	0.478																																					p.K93N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G279T	6						.						196.0	204.0	201.0					6																	29079946		1255	2571	3826	29187925	SO:0001583	missense	442186	exon1				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.279G>T	6.37:g.29079946G>T	ENSP00000366374:p.Lys93Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29187925	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821690	0.16678	.	.	ENSG00000204701	ENST00000377169	T	0.38240	1.15	2.62	-3.7	0.04437	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41511	0.1162	M	0.77712	2.385	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.49995	-0.8879	9	0.87932	D	0	.	12.4895	0.55891	0.2689:0.0:0.7311:0.0	.	93	O76001	OR2J3_HUMAN	N	93	ENSP00000366374:K93N	ENSP00000366374:K93N	K	+	3	2	OR2J3	29187925	0.000000	0.05858	0.031000	0.17742	0.178000	0.23041	-1.988000	0.01482	-1.694000	0.01425	-1.021000	0.02439	AAG		0.478	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
OR2J2	26707	broad.mit.edu	37	6	29142211	29142211	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29142211A>C	ENST00000377167.2	+	1	901	c.799A>C	c.(799-801)Aat>Cat	p.N267H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N267H(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ACCATCAGAAAATTCTCCTGA	0.423																																					p.N267H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A799C	6						.						114.0	108.0	110.0					6																	29142211		1906	4123	6029	29250190	SO:0001583	missense	26707	exon1				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.799A>C	6.37:g.29142211A>C	ENSP00000366372:p.Asn267His	Somatic		Capture	Illumina HiSeq	Phase_I	29250190	NM_030905	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	A	4.523	0.097144	0.08681	.	.	ENSG00000204700	ENST00000377167	T	0.00076	8.76	1.77	0.223	0.15292	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.03930	-0.32	0.09310	N	1	P	0.45428	0.858	P	0.54924	0.764	T	0.00292	-1.1842	9	0.27082	T	0.32	.	3.2791	0.06908	0.57:0.2156:0.0:0.2144	.	267	O76002	OR2J2_HUMAN	H	267	ENSP00000366372:N267H	ENSP00000366372:N267H	N	+	1	0	OR2J2	29250190	0.000000	0.05858	0.687000	0.30102	0.589000	0.36550	-1.650000	0.01991	0.802000	0.34089	0.172000	0.16884	AAT		0.423	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2		
OR5V1	81696	broad.mit.edu	37	6	29323909	29323909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29323909C>A	ENST00000377154.1	-	4	363	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.E22*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E22*(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTGCAATTCATTTAGGTTG	0.368																																					p.E22X	Ovarian(32;43 883 21137 32120 42650)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G64T	6						.						70.0	73.0	72.0					6																	29323909		2197	4286	6483	29431888	SO:0001587	stop_gained	81696	exon1				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.64G>T	6.37:g.29323909C>A	ENSP00000366359:p.Glu22*	Somatic		Capture	Illumina HiSeq	Phase_I	29431888	NM_030876	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Nonsense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060557	0.76074	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	.	.	.	4.52	2.68	0.31781	.	0.772725	0.10586	N	0.657251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.8963	9.1713	0.37083	0.0:0.4939:0.4261:0.0799	.	.	.	.	X	22	.	ENSP00000366356:E22X	E	-	1	0	OR5V1	29431888	0.000000	0.05858	0.002000	0.10522	0.675000	0.39556	-0.368000	0.07543	0.594000	0.29761	0.536000	0.68110	GAA		0.368	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3		
OR12D3	81797	broad.mit.edu	37	6	29342465	29342465	+	Silent	SNP	G	G	T	rs375090261		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29342465G>T	ENST00000396806.3	-	1	603	c.600C>A	c.(598-600)gtC>gtA	p.V200V	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V200V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGCTGCCTGTGACAATGGAAA	0.443																																					p.V200V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600A	6						.						84.0	88.0	87.0					6																	29342465		1509	2709	4218	29450444	SO:0001819	synonymous_variant	81797	exon1				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.600C>A	6.37:g.29342465G>T		Somatic		Capture	Illumina HiSeq	Phase_I	29450444	NM_030959	A2BDZ1|Q5SQI8|Q6IF23	Silent	SNP	ENST00000396806.3	37	CCDS4658.1																																																																																				0.443	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3		
OR2H2	7932	broad.mit.edu	37	6	29556330	29556330	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29556330C>A	ENST00000383640.2	+	1	648	c.609C>A	c.(607-609)ttC>ttA	p.F203L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	203					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F203L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CCAGTGTCTTCATCTTGGTTG	0.512																																					p.F203L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C609A	6						.						159.0	138.0	145.0					6																	29556330		1511	2708	4219	29664309	SO:0001583	missense	7932	exon1				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.609C>A	6.37:g.29556330C>A	ENSP00000373136:p.Phe203Leu	Somatic		Capture	Illumina HiSeq	Phase_I	29664309	NM_007160	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175657	0.06421	.	.	ENSG00000204657	ENST00000383640	T	0.34667	1.35	4.24	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.957046	0.08540	N	0.930707	T	0.04318	0.0119	N	0.03177	-0.4	0.25744	N	0.98513	B	0.06786	0.001	B	0.08055	0.003	T	0.43376	-0.9395	10	0.09338	T	0.73	.	7.5473	0.27775	0.3346:0.5026:0.1627:0.0	.	203	O95918	OR2H2_HUMAN	L	203	ENSP00000373136:F203L	ENSP00000373136:F203L	F	+	3	2	OR2H2	29664309	0.000000	0.05858	0.484000	0.27391	0.957000	0.61999	0.044000	0.13992	0.357000	0.24183	-0.302000	0.09304	TTC		0.512	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2		
MOG	4340	broad.mit.edu	37	6	29638497	29638497	+	Splice_Site	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29638497A>G	ENST00000376917.3	+	7	958	c.729A>G	c.(727-729)ctA>ctG	p.L243L	MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396701.2_Splice_Site_p.L204L|MOG_ENST00000494692.1_Splice_Site_p.L220L|MOG_ENST00000490427.1_Splice_Site_p.L104L|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376894.4_Silent_p.L243L|MOG_ENST00000376891.4_Intron|MOG_ENST00000396704.3_Splice_Site_p.L220L|MOG_ENST00000416766.2_Splice_Site_p.L205L|MOG_ENST00000376888.2_Splice_Site_p.L127L|MOG_ENST00000376898.3_Splice_Site_p.L243L|MOG_ENST00000431798.2_Splice_Site_p.L204L|MOG_ENST00000483013.1_Splice_Site_p.L88L	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	243					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L243L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTGAAGAGCTACGTAAGTTCT	0.428																																					p.L204L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A612G	6						.						62.0	54.0	56.0					6																	29638497		1510	2709	4219	29746476	SO:0001630	splice_region_variant	4340	exon6				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.730+1A>G	6.37:g.29638497A>G		Somatic		Capture	Illumina HiSeq	Phase_I	29746476	NM_206812	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	CCDS34370.1																																																																																				0.428	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	Silent
HLA-A	3105	broad.mit.edu	37	6	29911178	29911182	+	Frame_Shift_Del	DEL	GGCGG	GGCGG	-	rs78923580|rs41557413|rs41542714		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	GGCGG	GGCGG	GGCGG	-	GGCGG	GGCGG	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:29911178_29911182delGGCGG	ENST00000396634.1	+	5	818_822	c.477_481delGGCGG	c.(475-483)gcggcggacfs	p.AD160fs	HLA-A_ENST00000376809.5_Frame_Shift_Del_p.AD160fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.AD160fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.AD160fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	160	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.A160fs*15(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTTGGACCGCGGCGGACATGGCGGC	0.673									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.159_161del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.477_481del	6						.																																			30019161	SO:0001589	frameshift_variant	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.477_481delGGCGG	6.37:g.29911178_29911182delGGCGG	ENSP00000379873:p.Ala160fs	Somatic		Capture	Illumina HiSeq	Phase_I	30019157	NM_002116	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	CCDS34373.1																																																																																				0.673	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	
CCHCR1	54535	broad.mit.edu	37	6	31122521	31122521	+	Missense_Mutation	SNP	G	G	A	rs530074163	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:31122521G>A	ENST00000376266.5	-	4	408	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R96W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R149W|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R185W	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R96W(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGCAGCTGCCGAACGATCACC	0.642													G|||	3	0.000599042	0.0	0.0	5008	,	,		18670	0.0		0.0	False		,,,				2504	0.0031				p.R149W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445T	6						.						29.0	32.0	31.0					6																	31122521		1507	2708	4215	31230500	SO:0001583	missense	54535	exon4			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.286C>T	6.37:g.31122521G>A	ENSP00000365442:p.Arg96Trp	Somatic		Capture	Illumina HiSeq	Phase_I	31230500	NM_001105563	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879619	0.72294	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829;ENST00000428174;ENST00000507226	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04234	3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67;3.67	5.33	4.46	0.54185	.	0.638065	0.15382	N	0.265253	T	0.09598	0.0236	M	0.68317	2.08	0.30239	N	0.795201	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.983;1.0;0.998;0.994	T	0.04870	-1.0921	10	0.87932	D	0	-28.23	9.9823	0.41821	0.0939:0.0:0.9061:0.0	.	96;96;96;149;185	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	W	185;96;96;96;149;60;60;96;70;60;96;96;96;122;96;194;96;96;122;96	ENSP00000379566:R185W;ENSP00000365442:R96W;ENSP00000379561:R96W;ENSP00000401039:R149W;ENSP00000414323:R60W;ENSP00000421393:R60W;ENSP00000390027:R96W;ENSP00000425682:R70W;ENSP00000421992:R60W;ENSP00000420941:R96W;ENSP00000398715:R96W;ENSP00000425595:R96W;ENSP00000402432:R194W;ENSP00000425377:R96W;ENSP00000420911:R96W;ENSP00000389303:R122W;ENSP00000424335:R96W	ENSP00000365442:R96W	R	-	1	2	CCHCR1	31230500	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.739000	0.38217	1.267000	0.44247	-0.154000	0.13518	CGG		0.642	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
HLA-DRA	3122	broad.mit.edu	37	6	32410356	32410356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:32410356G>T	ENST00000374982.5	+	2	287	c.214G>T	c.(214-216)Gaa>Taa	p.E72*	HLA-DRA_ENST00000395388.2_Nonsense_Mutation_p.E72*			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	72	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.E72*(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GCGGCTTGAAGAATTTGGACG	0.463									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																												p.E72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G214T	6						.						156.0	156.0	156.0					6																	32410356		1511	2709	4220	32518334	SO:0001587	stop_gained	3122	exon2	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.214G>T	6.37:g.32410356G>T	ENSP00000364121:p.Glu72*	Somatic		Capture	Illumina HiSeq	Phase_I	32518334	NM_019111	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Nonsense_Mutation	SNP	ENST00000374982.5	37		.	.	.	.	.	.	.	.	.	.	.	28.9	4.962452	0.92791	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	.	.	.	5.38	5.38	0.77491	.	0.655638	0.15742	N	0.246886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5648	0.68168	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000364121:E72X	E	+	1	0	HLA-DRA	32518334	0.207000	0.23482	0.964000	0.40570	0.689000	0.40095	1.568000	0.36418	2.813000	0.96785	0.638000	0.83543	GAA		0.463	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111	
HLA-DRA	3122	broad.mit.edu	37	6	32411000	32411000	+	Nonsense_Mutation	SNP	G	G	T	rs61117681	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:32411000G>T	ENST00000395388.2	+	3	476	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	123	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.E123*(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CAGCCCTGTGGAACTGAGAGA	0.522									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																												p.E123X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G367T	6						.						122.0	89.0	101.0					6																	32411000		1511	2709	4220	32518978	SO:0001587	stop_gained	3122	exon3	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000395388.2:c.367G>T	6.37:g.32411000G>T	ENSP00000378786:p.Glu123*	Somatic		Capture	Illumina HiSeq	Phase_I	32518978	NM_019111	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Nonsense_Mutation	SNP	ENST00000395388.2	37	CCDS4750.1	.	.	.	.	.	.	.	.	.	.	.	19.55	3.848770	0.71603	.	.	ENSG00000204287	ENST00000395388	.	.	.	5.59	1.85	0.25348	.	0.396143	0.27366	N	0.019699	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.3739	0.32432	0.3293:0.0:0.6707:0.0	.	.	.	.	X	123	.	ENSP00000378786:E123X	E	+	1	0	HLA-DRA	32518978	1.000000	0.71417	0.006000	0.13384	0.826000	0.46750	3.110000	0.50352	0.168000	0.19655	0.638000	0.83543	GAA		0.522	HLA-DRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076586.2	NM_019111	
HSD17B8	7923	broad.mit.edu	37	6	33174420	33174420	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:33174420C>A	ENST00000374662.3	+	9	802	c.775C>A	c.(775-777)Ctt>Att	p.L259I	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000374656.4_5'Flank	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	259					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.L259I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						CCCAGGAGGTCTTTTCATGTA	0.562																																					p.L259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C775A	6						.						162.0	145.0	151.0					6																	33174420		2203	4300	6503	33282398	SO:0001583	missense	7923	exon9			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.775C>A	6.37:g.33174420C>A	ENSP00000363794:p.Leu259Ile	Somatic		Capture	Illumina HiSeq	Phase_I	33282398	NM_014234	A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123775	0.37436	.	.	ENSG00000204228	ENST00000374662	T	0.24538	1.85	4.77	4.77	0.60923	NAD(P)-binding domain (1);	0.478720	0.17665	N	0.166194	T	0.13329	0.0323	N	0.26130	0.795	0.52501	D	0.999953	P	0.45474	0.859	B	0.43658	0.426	T	0.02852	-1.1102	10	0.87932	D	0	.	13.3545	0.60621	0.0:1.0:0.0:0.0	.	259	Q92506	DHB8_HUMAN	I	259	ENSP00000363794:L259I	ENSP00000363794:L259I	L	+	1	0	HSD17B8	33282398	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	3.809000	0.55606	2.218000	0.71995	0.545000	0.68477	CTT		0.562	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234	
ITPR3	3710	broad.mit.edu	37	6	33654005	33654005	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:33654005G>T	ENST00000374316.5	+	43	6903	c.5843G>T	c.(5842-5844)tGc>tTc	p.C1948F	ITPR3_ENST00000605930.1_Missense_Mutation_p.C1948F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1948					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.C1948F(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACTGAGTACTGCCAGGGCCCC	0.637																																					p.C1948F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5843T	6						.						36.0	32.0	34.0					6																	33654005		2203	4300	6503	33761983	SO:0001583	missense	3710	exon42			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5843G>T	6.37:g.33654005G>T	ENSP00000363435:p.Cys1948Phe	Somatic		Capture	Illumina HiSeq	Phase_I	33761983	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618058	0.87359	.	.	ENSG00000096433	ENST00000374316	D	0.95205	-3.64	5.1	5.1	0.69264	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.99;0.996	D	0.98953	1.0795	10	0.87932	D	0	-35.3449	18.109	0.89529	0.0:0.0:1.0:0.0	.	1948;1618	Q14573;Q59ES2	ITPR3_HUMAN;.	F	1948	ENSP00000363435:C1948F	ENSP00000363435:C1948F	C	+	2	0	ITPR3	33761983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.855000	0.99526	2.370000	0.80446	0.467000	0.42956	TGC		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
GRM4	2914	broad.mit.edu	37	6	34101231	34101231	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:34101231G>A	ENST00000538487.2	-	2	486	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.P15S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	15					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.P15S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGCAAAGGGGCAGCCGGGCC	0.632																																					p.P15S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C43T	6						.						24.0	29.0	28.0					6																	34101231		2203	4298	6501	34209209	SO:0001583	missense	2914	exon1			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.43C>T	6.37:g.34101231G>A	ENSP00000440556:p.Pro15Ser	Somatic		Capture	Illumina HiSeq	Phase_I	34209209	NM_000841	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089707	0.76756	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.87334	-2.24;-2.24	4.19	4.19	0.49359	.	0.418180	0.22666	N	0.057125	T	0.52917	0.1764	N	0.02011	-0.69	0.80722	D	1	B;B	0.23650	0.089;0.089	B;B	0.17433	0.018;0.011	T	0.55817	-0.8081	10	0.20046	T	0.44	.	12.175	0.54180	0.0:0.0:1.0:0.0	.	15;15	B7ZLU9;Q14833	.;GRM4_HUMAN	S	15	ENSP00000363296:P15S;ENSP00000440556:P15S	ENSP00000363296:P15S	P	-	1	0	GRM4	34209209	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.644000	0.46613	2.335000	0.79485	0.467000	0.42956	CCC		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
C6orf106	64771	broad.mit.edu	37	6	34664283	34664283	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:34664283C>A	ENST00000374023.3	-	1	341	c.98G>T	c.(97-99)aGg>aTg	p.R33M	RP11-140K17.3_ENST00000606496.1_RNA|RP11-140K17.3_ENST00000606971.1_RNA|C6orf106_ENST00000374026.3_Missense_Mutation_p.R33M	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	33								p.R33M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GCCGAGCAGCCTCTGGAACTC	0.647																																					p.R33M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98T	6						.						72.0	48.0	56.0					6																	34664283		2203	4300	6503	34772261	SO:0001583	missense	64771	exon1			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.98G>T	6.37:g.34664283C>A	ENSP00000363135:p.Arg33Met	Somatic		Capture	Illumina HiSeq	Phase_I	34772261	NM_022758	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047960	0.75846	.	.	ENSG00000196821	ENST00000374023;ENST00000374026	.	.	.	2.67	2.67	0.31697	UBA-like (1);	0.141721	0.44285	D	0.000462	T	0.54415	0.1857	L	0.57536	1.79	0.80722	D	1	B;P	0.49447	0.114;0.924	B;P	0.53313	0.113;0.723	T	0.58526	-0.7621	9	0.45353	T	0.12	-0.867	14.0902	0.64984	0.0:1.0:0.0:0.0	.	33;33	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	M	33	.	ENSP00000363135:R33M	R	-	2	0	C6orf106	34772261	1.000000	0.71417	0.993000	0.49108	0.537000	0.34900	6.577000	0.74027	1.828000	0.53243	0.561000	0.74099	AGG		0.647	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758	
SCUBE3	222663	broad.mit.edu	37	6	35213145	35213145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:35213145G>T	ENST00000274938.7	+	19	2542	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	SCUBE3_ENST00000394681.1_Nonsense_Mutation_p.E864*	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.E848*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGTGGTACCAGAGATCTTCCT	0.562																																					p.E848X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2542T	6						.						108.0	99.0	102.0					6																	35213145		2203	4300	6503	35321123	SO:0001587	stop_gained	222663	exon19			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2542G>T	6.37:g.35213145G>T	ENSP00000274938:p.Glu848*	Somatic		Capture	Illumina HiSeq	Phase_I	35321123	NM_152753		Nonsense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	39	7.806723	0.98501	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2748	0.94027	0.0:0.0:1.0:0.0	.	.	.	.	X	864;848	.	ENSP00000274938:E848X	E	+	1	0	SCUBE3	35321123	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.869000	0.99810	2.558000	0.86282	0.655000	0.94253	GAG		0.562	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
FKBP5	2289	broad.mit.edu	37	6	35547913	35547913	+	Missense_Mutation	SNP	G	G	A	rs200847512		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:35547913G>A	ENST00000539068.1	-	9	1128	c.926C>T	c.(925-927)tCg>tTg	p.S309L	FKBP5_ENST00000536438.1_Missense_Mutation_p.S309L|FKBP5_ENST00000540787.1_Missense_Mutation_p.S130L|FKBP5_ENST00000357266.4_Missense_Mutation_p.S309L	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	309					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S309L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AGAAGCTTTCGATTCCTTTTC	0.433																																					p.S309L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926T	6						.						184.0	171.0	176.0					6																	35547913		2203	4300	6503	35655891	SO:0001583	missense	2289	exon10			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.926C>T	6.37:g.35547913G>A	ENSP00000441205:p.Ser309Leu	Somatic		Capture	Illumina HiSeq	Phase_I	35655891	NM_001145775	F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716829	0.30413	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.93	3.23	0.37069	Elongated TPR repeat-containing domain (1);	0.773939	0.12247	N	0.485983	T	0.29716	0.0742	N	0.04636	-0.2	0.39352	D	0.965777	B	0.13145	0.007	B	0.04013	0.001	T	0.04333	-1.0959	10	0.38643	T	0.18	-6.2108	11.1842	0.48646	0.1886:0.0:0.8114:0.0	.	309	Q13451	FKBP5_HUMAN	L	309;309;309;309;130;272	ENSP00000444810:S309L;ENSP00000349811:S309L;ENSP00000441205:S309L;ENSP00000445412:S130L	ENSP00000338160:S309L	S	-	2	0	FKBP5	35655891	0.426000	0.25506	0.072000	0.20136	0.500000	0.33767	3.450000	0.52957	0.418000	0.25898	0.655000	0.94253	TCG		0.433	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2		
SRPK1	6732	broad.mit.edu	37	6	35803262	35803262	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:35803262T>C	ENST00000373825.2	-	16	2072	c.1787A>G	c.(1786-1788)gAc>gGc	p.D596G	SRPK1_ENST00000423325.2_Missense_Mutation_p.D580G|SRPK1_ENST00000373822.1_Missense_Mutation_p.D488G					SRSF protein kinase 1									p.D595G(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATGTTTCAGGTCACCTGCAGT	0.458																																					p.D596G	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1787G	6						.						48.0	50.0	49.0					6																	35803262		1904	4130	6034	35911240	SO:0001583	missense	6732	exon16			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1787A>G	6.37:g.35803262T>C	ENSP00000362931:p.Asp596Gly	Somatic		Capture	Illumina HiSeq	Phase_I	35911240	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998704	0.74818	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.26122	0.0637	L	0.38175	1.15	0.80722	D	1	P;D	0.63880	0.909;0.993	P;D	0.66196	0.808;0.942	T	0.03493	-1.1031	9	0.72032	D	0.01	-14.2781	15.5826	0.76455	0.0:0.0:0.0:1.0	.	580;596	B4DS61;Q96SB4	.;SRPK1_HUMAN	G	596;612;580;488	ENSP00000362931:D596G;ENSP00000354674:D612G;ENSP00000391069:D580G;ENSP00000362928:D488G	ENSP00000354674:D612G	D	-	2	0	SRPK1	35911240	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.036000	0.88901	2.073000	0.62155	0.533000	0.62120	GAC		0.458	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	G	A	rs574969645		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:36767803G>A	ENST00000244751.2	-	4	852	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.F76F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20960	0.0		0.0	False		,,,				2504	0.001				p.F76F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228T	6						.						94.0	80.0	84.0					6																	36767803		2203	4300	6503	36875781	SO:0001819	synonymous_variant	57699	exon4			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.228C>T	6.37:g.36767803G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36875781	NM_020939	Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																				0.552	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939	
C6orf89	221477	broad.mit.edu	37	6	36882393	36882393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:36882393G>T	ENST00000480824.2	+	6	913	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	C6orf89_ENST00000373685.1_Nonsense_Mutation_p.E207*|C6orf89_ENST00000359359.2_Nonsense_Mutation_p.E101*|C6orf89_ENST00000355190.3_Nonsense_Mutation_p.E214*|C6orf89_ENST00000510325.2_Nonsense_Mutation_p.E101*			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	207					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E214*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGAGGCGACAGAAGGCTTCTC	0.522																																					p.E214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G640T	6						.						180.0	189.0	186.0					6																	36882393		2203	4300	6503	36990371	SO:0001587	stop_gained	221477	exon5			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.619G>T	6.37:g.36882393G>T	ENSP00000475947:p.Glu207*	Somatic		Capture	Illumina HiSeq	Phase_I	36990371	NM_152734	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Nonsense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	G	38	7.154035	0.98099	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.03	5.03	0.67393	.	0.308295	0.33732	N	0.004607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.7157	14.2104	0.65762	0.0:0.0:1.0:0.0	.	.	.	.	X	101;101;214;207	.	ENSP00000347322:E214X	E	+	1	0	C6orf89	36990371	1.000000	0.71417	0.932000	0.37286	0.154000	0.21943	4.746000	0.62133	2.500000	0.84329	0.609000	0.83330	GAA		0.522	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	
MDGA1	266727	broad.mit.edu	37	6	37613719	37613719	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:37613719C>T	ENST00000434837.3	-	12	3416	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	MDGA1_ENST00000297153.7_Intron|MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000505425.1_Silent_p.P746P	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	746					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.P748P(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGAAAGGTTCGGAGAGTTGA	0.552																																					p.P746P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2238A	6						.						60.0	64.0	63.0					6																	37613719		1934	4142	6076	37721697	SO:0001819	synonymous_variant	266727	exon12			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2238G>A	6.37:g.37613719C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37721697	NM_153487	A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																				0.552	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
DNAH8	1769	broad.mit.edu	37	6	38862627	38862627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:38862627G>A	ENST00000359357.3	+	57	8337	c.8083G>A	c.(8083-8085)Gta>Ata	p.V2695I	DNAH8_ENST00000441566.1_Missense_Mutation_p.V2659I|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2912I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2695					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2695I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGCAGCAGAGTAATTGCAGA	0.393																																					p.V2695I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8083A	6						.						56.0	51.0	53.0					6																	38862627		2203	4300	6503	38970605	SO:0001583	missense	1769	exon57			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8083G>A	6.37:g.38862627G>A	ENSP00000352312:p.Val2695Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38970605	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.419251	0.83559	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.42131	0.98;0.98;0.98	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.87617	2.895	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.66752	-0.5844	10	0.56958	D	0.05	.	12.1619	0.54109	0.0787:0.0:0.9213:0.0	.	2695	Q96JB1	DYH8_HUMAN	I	2900;2900;2695;2659	ENSP00000333363:V2900I;ENSP00000352312:V2695I;ENSP00000402294:V2659I	ENSP00000333363:V2900I	V	+	1	0	DNAH8	38970605	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	7.086000	0.76885	2.410000	0.81850	0.557000	0.71058	GTA		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
TREM1	54210	broad.mit.edu	37	6	41250274	41250274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:41250274C>T	ENST00000244709.4	-	2	328	c.265G>A	c.(265-267)Gac>Aac	p.D89N	TREM1_ENST00000334475.6_Missense_Mutation_p.D89N|TREM1_ENST00000589614.1_Missense_Mutation_p.D89N|TREM1_ENST00000591620.1_Missense_Mutation_p.D89N	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	89	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.D89N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCATGGTAGTCTTCTAGTATG	0.507																																					p.D89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	6						.						134.0	107.0	116.0					6																	41250274		2203	4300	6503	41358252	SO:0001583	missense	54210	exon2			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.265G>A	6.37:g.41250274C>T	ENSP00000244709:p.Asp89Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41358252	NM_018643	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014241	0.54468	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.63913	-0.07;-0.07	4.37	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.155014	0.30201	N	0.010161	T	0.71384	0.3333	M	0.87682	2.9	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.981;0.991	T	0.64529	-0.6386	10	0.56958	D	0.05	-21.1874	10.6074	0.45402	0.0:0.8062:0.1938:0.0	.	89;89	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	N	89	ENSP00000244709:D89N;ENSP00000334284:D89N	ENSP00000244709:D89N	D	-	1	0	TREM1	41358252	0.074000	0.21230	0.018000	0.16275	0.010000	0.07245	1.462000	0.35266	1.175000	0.42826	0.591000	0.81541	GAC		0.507	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643	
GUCA1B	2979	broad.mit.edu	37	6	42156345	42156345	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:42156345C>T	ENST00000230361.3	-	2	427	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	111	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.R111H(1)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TAGCTCCAGGCGGTCGATGCA	0.557																																					p.R111H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	6						.						134.0	99.0	111.0					6																	42156345		2203	4300	6503	42264323	SO:0001583	missense	2979	exon2			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.332G>A	6.37:g.42156345C>T	ENSP00000230361:p.Arg111His	Somatic		Capture	Illumina HiSeq	Phase_I	42264323	NM_002098	Q9NU15	Missense_Mutation	SNP	ENST00000230361.3	37	CCDS4865.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041519	0.55003	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.71934	-0.61	4.87	3.07	0.35406	EF-hand-like domain (1);	0.108234	0.64402	N	0.000015	T	0.52709	0.1751	M	0.71871	2.18	0.43296	D	0.995286	B	0.26902	0.163	B	0.29267	0.1	T	0.62329	-0.6877	10	0.87932	D	0	.	5.6858	0.17803	0.0:0.7021:0.0:0.2979	.	111	Q9UMX6	GUC1B_HUMAN	H	111	ENSP00000230361:R111H	ENSP00000230361:R111H	R	-	2	0	GUCA1B	42264323	0.996000	0.38824	0.953000	0.39169	0.988000	0.76386	1.912000	0.39946	1.353000	0.45828	0.655000	0.94253	CGC		0.557	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098	
TRERF1	55809	broad.mit.edu	37	6	42224547	42224547	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:42224547G>A	ENST00000372922.4	-	12	3061	c.2499C>T	c.(2497-2499)tgC>tgT	p.C833C	TRERF1_ENST00000340840.2_Silent_p.C750C|TRERF1_ENST00000541110.1_Silent_p.C853C|TRERF1_ENST00000354325.2_Silent_p.C750C|TRERF1_ENST00000372917.4_Silent_p.C750C	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	833	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C833C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACTGGAACAGCACAAATTCA	0.458																																					p.C833C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2499T	6						.						116.0	113.0	114.0					6																	42224547		2203	4300	6503	42332525	SO:0001819	synonymous_variant	55809	exon12			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2499C>T	6.37:g.42224547G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42332525	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	CCDS4867.1																																																																																				0.458	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
TRERF1	55809	broad.mit.edu	37	6	42236788	42236788	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:42236788G>T	ENST00000372922.4	-	5	1103	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	TRERF1_ENST00000340840.2_Missense_Mutation_p.L181I|TRERF1_ENST00000541110.1_Missense_Mutation_p.L181I|TRERF1_ENST00000354325.2_Missense_Mutation_p.L181I|TRERF1_ENST00000372917.4_Missense_Mutation_p.L181I	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	181					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L181I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCTGGCGGAGAGCACTGTCA	0.602																																					p.L181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C541A	6						.						65.0	71.0	69.0					6																	42236788		2203	4300	6503	42344766	SO:0001583	missense	55809	exon5			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.541C>A	6.37:g.42236788G>T	ENSP00000362013:p.Leu181Ile	Somatic		Capture	Illumina HiSeq	Phase_I	42344766	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815508	0.70912	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.29142	1.94;1.58;1.83;1.58;1.59	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000063	T	0.39627	0.1085	L	0.34521	1.04	0.53005	D	0.999969	D;D;D;D;D	0.76494	0.999;0.986;0.986;0.996;0.996	D;D;D;D;D	0.85130	0.997;0.968;0.968;0.994;0.994	T	0.36114	-0.9761	10	0.87932	D	0	-23.353	19.1535	0.93499	0.0:0.0:1.0:0.0	.	181;181;181;20;20	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	I	181	ENSP00000439689:L181I;ENSP00000362008:L181I;ENSP00000362013:L181I;ENSP00000339438:L181I;ENSP00000346285:L181I	ENSP00000339438:L181I	L	-	1	0	TRERF1	42344766	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.851000	0.69481	2.537000	0.85549	0.462000	0.41574	CTC		0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
PRPH2	5961	broad.mit.edu	37	6	42689525	42689525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:42689525C>T	ENST00000230381.5	-	1	787	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R183H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTCCAGGTAGCGATTGCTGAT	0.493																																					p.R183H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548A	6						.						151.0	145.0	147.0					6																	42689525		2203	4300	6503	42797503	SO:0001583	missense	5961	exon1				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.548G>A	6.37:g.42689525C>T	ENSP00000230381:p.Arg183His	Somatic		Capture	Illumina HiSeq	Phase_I	42797503	NM_000322	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280797	0.95489	.	.	ENSG00000112619	ENST00000230381	T	0.80304	-1.36	5.63	5.63	0.86233	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90821	0.4709	10	0.66056	D	0.02	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	183	P23942	PRPH2_HUMAN	H	183	ENSP00000230381:R183H	ENSP00000230381:R183H	R	-	2	0	PRPH2	42797503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.708000	0.84633	2.814000	0.96858	0.655000	0.94253	CGC		0.493	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
PTK7	5754	broad.mit.edu	37	6	43096864	43096864	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:43096864C>T	ENST00000230419.4	+	2	450	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	PTK7_ENST00000471863.1_Missense_Mutation_p.R77W|PTK7_ENST00000476760.1_Missense_Mutation_p.R77W|PTK7_ENST00000349241.2_Missense_Mutation_p.R77W|PTK7_ENST00000352931.2_Missense_Mutation_p.R77W|PTK7_ENST00000481273.1_Missense_Mutation_p.R85W|PTK7_ENST00000345201.2_Missense_Mutation_p.R77W	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	77	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R77W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGACACGGAGCGGCGTTTCGC	0.662																																					p.R77W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C229T	6						.						35.0	36.0	36.0					6																	43096864		2203	4300	6503	43204842	SO:0001583	missense	5754	exon2			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.229C>T	6.37:g.43096864C>T	ENSP00000230419:p.Arg77Trp	Somatic		Capture	Illumina HiSeq	Phase_I	43204842	NM_152880	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810958	0.50421	.	.	ENSG00000112655	ENST00000230419;ENST00000476760;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.84	2.93	0.34026	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055940	0.64402	D	0.000002	T	0.66406	0.2786	M	0.91354	3.2	0.50813	D	0.999894	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.998;0.993;0.999;0.997;0.99	T	0.75473	-0.3305	10	0.87932	D	0	.	12.5932	0.56454	0.4577:0.5423:0.0:0.0	.	85;77;77;77;77;77	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	W	77;77;77;77;77;77;85;85	ENSP00000230419:R77W;ENSP00000417607:R77W;ENSP00000419037:R77W;ENSP00000325462:R77W;ENSP00000326029:R77W;ENSP00000325992:R77W;ENSP00000418754:R85W	ENSP00000230418:R77W	R	+	1	2	PTK7	43204842	1.000000	0.71417	0.749000	0.31150	0.166000	0.22503	2.756000	0.47549	0.987000	0.38709	0.462000	0.41574	CGG		0.662	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
PTK7	5754	broad.mit.edu	37	6	43111176	43111176	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:43111176C>T	ENST00000230419.4	+	14	2290	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	PTK7_ENST00000349241.2_Missense_Mutation_p.S560L|PTK7_ENST00000352931.2_Missense_Mutation_p.S634L|PTK7_ENST00000481273.1_Missense_Mutation_p.S698L|PTK7_ENST00000345201.2_Missense_Mutation_p.S650L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	690					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S690L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGAGGAGTCGGAGGGCCCT	0.607											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S650L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1949T	6						.						66.0	69.0	68.0					6																	43111176		2203	4300	6503	43219154	SO:0001583	missense	5754	exon13			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2069C>T	6.37:g.43111176C>T	ENSP00000230419:p.Ser690Leu	Somatic	913	Capture	Illumina HiSeq	Phase_I	43219154	NM_152880	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266074	0.40095	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.74315	-0.73;-0.83;-0.66;-0.75;-0.75	5.59	5.59	0.84812	.	0.580653	0.18964	N	0.126306	T	0.36386	0.0965	N	0.22421	0.69	0.20563	N	0.99989	B;B;B;B;P	0.35307	0.177;0.037;0.382;0.126;0.494	B;B;B;B;B	0.27380	0.03;0.021;0.079;0.043;0.079	T	0.24225	-1.0166	10	0.07482	T	0.82	.	14.3407	0.66624	0.1842:0.8158:0.0:0.0	.	698;560;650;634;690	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	L	690;560;634;650;698	ENSP00000230419:S690L;ENSP00000325462:S560L;ENSP00000326029:S634L;ENSP00000325992:S650L;ENSP00000418754:S698L	ENSP00000230418:S690L	S	+	2	0	PTK7	43219154	0.009000	0.17119	0.400000	0.26346	0.403000	0.30841	2.301000	0.43628	2.628000	0.89032	0.655000	0.94253	TCG		0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
CUL9	23113	broad.mit.edu	37	6	43155480	43155480	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:43155480C>A	ENST00000252050.4	+	7	1695	c.1611C>A	c.(1609-1611)atC>atA	p.I537I	CUL9_ENST00000354495.3_Silent_p.I427I|CUL9_ENST00000372647.2_Silent_p.I537I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	537					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.I537I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TAGGTGAGATCTCTGTGTCCG	0.517																																					p.I537I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1611A	6						.						146.0	154.0	151.0					6																	43155480		2203	4300	6503	43263458	SO:0001819	synonymous_variant	23113	exon7			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1611C>A	6.37:g.43155480C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43263458	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
CUL9	23113	broad.mit.edu	37	6	43166584	43166584	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:43166584C>A	ENST00000252050.4	+	12	3125	c.3041C>A	c.(3040-3042)tCt>tAt	p.S1014Y	CUL9_ENST00000354495.3_Missense_Mutation_p.S904Y|CUL9_ENST00000372647.2_Missense_Mutation_p.S1014Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1014					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.S1014Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGCTGCTGTCTGTGCTGAGG	0.562																																					p.S1014Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3041A	6						.						32.0	34.0	33.0					6																	43166584		2168	4287	6455	43274562	SO:0001583	missense	23113	exon12			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3041C>A	6.37:g.43166584C>A	ENSP00000252050:p.Ser1014Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	43274562	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730323	0.30684	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37915	1.17;1.17;1.17	4.86	3.0	0.34707	Armadillo-like helical (1);Armadillo-type fold (1);	8.212750	0.00649	N	0.000557	T	0.18425	0.0442	N	0.24115	0.695	0.20638	N	0.999874	P;B;B	0.43750	0.816;0.091;0.091	P;B;B	0.48334	0.574;0.089;0.089	T	0.26224	-1.0109	10	0.87932	D	0	-1.6819	6.7566	0.23518	0.0:0.5572:0.3462:0.0966	.	904;1014;1014	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Y	1014;904;1014	ENSP00000252050:S1014Y;ENSP00000346490:S904Y;ENSP00000361730:S1014Y	ENSP00000252050:S1014Y	S	+	2	0	CUL9	43274562	0.138000	0.22547	0.353000	0.25747	0.875000	0.50365	0.712000	0.25779	0.401000	0.25424	0.455000	0.32223	TCT		0.562	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
ZNF318	24149	broad.mit.edu	37	6	43305098	43305098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:43305098G>A	ENST00000361428.2	-	10	6715	c.6638C>T	c.(6637-6639)tCg>tTg	p.S2213L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2213					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S2213L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGATGCATTCGATATTTCTAG	0.478																																					p.S2213L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6638T	6						.						85.0	74.0	77.0					6																	43305098		2203	4300	6503	43413076	SO:0001583	missense	24149	exon10			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6638C>T	6.37:g.43305098G>A	ENSP00000354964:p.Ser2213Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43413076	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	0	-2.632594	0.00115	.	.	ENSG00000171467	ENST00000361428	T	0.10763	2.84	5.14	-1.67	0.08238	.	1.186920	0.06038	N	0.654301	T	0.00695	0.0023	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	10	0.02654	T	1	5.5715	1.8727	0.03212	0.4846:0.1648:0.224:0.1265	.	2213	Q5VUA4	ZN318_HUMAN	L	2213	ENSP00000354964:S2213L	ENSP00000354964:S2213L	S	-	2	0	ZNF318	43413076	0.080000	0.21391	0.001000	0.08648	0.153000	0.21895	0.359000	0.20233	-0.130000	0.11599	0.655000	0.94253	TCG		0.478	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
TMEM63B	55362	broad.mit.edu	37	6	44117616	44117616	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:44117616C>A	ENST00000259746.9	+	16	1617	c.1434C>A	c.(1432-1434)ttC>ttA	p.F478L	TMEM63B_ENST00000323267.6_Missense_Mutation_p.F478L			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	478					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.F478L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCACCCAGTTCTTCCCCACCC	0.622																																					p.F478L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1434A	6						.						202.0	138.0	160.0					6																	44117616		2203	4300	6503	44225594	SO:0001583	missense	55362	exon16			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1434C>A	6.37:g.44117616C>A	ENSP00000259746:p.Phe478Leu	Somatic		Capture	Illumina HiSeq	Phase_I	44225594	NM_018426	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.176952|5.176952	0.94846|0.94846	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.27557|.	1.66;1.66|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Domain of unknown function DUF221 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81312|0.81312	0.4796|0.4796	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	B|.	0.32302|.	0.363|.	B|.	0.39904|.	0.313|.	D|D	0.84786|0.84786	0.0776|0.0776	10|5	0.87932|.	D|.	0|.	.|.	16.6913|16.6913	0.85322|0.85322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	478|.	Q5T3F8|.	TM63B_HUMAN|.	L|Y	478|407	ENSP00000259746:F478L;ENSP00000327154:F478L|.	ENSP00000259746:F478L|.	F|S	+|+	3|2	2|0	TMEM63B|TMEM63B	44225594|44225594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.876000|5.876000	0.69667|0.69667	2.488000|2.488000	0.83962|0.83962	0.549000|0.549000	0.68633|0.68633	TTC|TCT		0.622	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
TDRD6	221400	broad.mit.edu	37	6	46659064	46659064	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:46659064T>G	ENST00000316081.6	+	1	3199	c.3199T>G	c.(3199-3201)Ttt>Gtt	p.F1067V	TDRD6_ENST00000544460.1_Missense_Mutation_p.F1067V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1067	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.F1067V(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTTGTTGATTTTGGGAATAT	0.393																																					p.F1067V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3199G	6						.						101.0	104.0	103.0					6																	46659064		2203	4300	6503	46767023	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3199T>G	6.37:g.46659064T>G	ENSP00000346065:p.Phe1067Val	Somatic		Capture	Illumina HiSeq	Phase_I	46767023	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480971	0.63849	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10477	2.87;2.87	5.64	5.64	0.86602	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.237415	0.45361	N	0.000374	T	0.32406	0.0828	M	0.90252	3.1	0.41632	D	0.989028	D;D	0.76494	0.998;0.999	D;D	0.74674	0.973;0.984	T	0.39502	-0.9611	10	0.72032	D	0.01	-23.0617	15.8565	0.78983	0.0:0.0:0.0:1.0	.	1067;1067	F5H5M3;O60522	.;TDRD6_HUMAN	V	1067	ENSP00000443299:F1067V;ENSP00000346065:F1067V	ENSP00000346065:F1067V	F	+	1	0	TDRD6	46767023	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.893000	0.69798	2.147000	0.66899	0.533000	0.62120	TTT		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
PLA2G7	7941	broad.mit.edu	37	6	46678298	46678298	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:46678298T>C	ENST00000274793.7	-	8	957	c.761A>G	c.(760-762)gAt>gGt	p.D254G	PLA2G7_ENST00000541026.1_Missense_Mutation_p.D127G|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D209G|PLA2G7_ENST00000537365.1_Missense_Mutation_p.D254G	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	254					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.D254G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTGTTCCATATCAAACTTTAA	0.333																																					p.D254G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A761G	6						.						98.0	97.0	97.0					6																	46678298		2203	4300	6503	46786257	SO:0001583	missense	7941	exon8			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.761A>G	6.37:g.46678298T>C	ENSP00000274793:p.Asp254Gly	Somatic		Capture	Illumina HiSeq	Phase_I	46786257	NM_001168357	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626979	0.46840	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.56275	1.04;1.04;0.47;0.47	5.87	3.5	0.40072	.	0.044753	0.85682	N	0.000000	T	0.34600	0.0903	M	0.77103	2.36	0.44373	D	0.99727	B;B;B;B	0.32800	0.095;0.385;0.031;0.031	B;B;B;B	0.32677	0.054;0.15;0.049;0.049	T	0.13980	-1.0489	10	0.29301	T	0.29	.	10.0639	0.42292	0.0:0.1365:0.0:0.8635	.	127;209;254;254	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	G	254;254;209;127	ENSP00000274793:D254G;ENSP00000445666:D254G;ENSP00000441416:D209G;ENSP00000444164:D127G	ENSP00000274793:D254G	D	-	2	0	PLA2G7	46786257	1.000000	0.71417	0.356000	0.25785	0.827000	0.46813	4.467000	0.60155	0.496000	0.27904	0.533000	0.62120	GAT		0.333	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
RHAG	6005	broad.mit.edu	37	6	49585820	49585820	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:49585820G>T	ENST00000371175.4	-	3	479	c.453C>A	c.(451-453)ttC>ttA	p.F151L	RHAG_ENST00000229810.7_Missense_Mutation_p.F151L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	151					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.F151L(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGTGGGCAAAGAAAACAATTT	0.388																																					p.F151L	Ovarian(176;476 2003 7720 43408 44749)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C453A	6						.						83.0	81.0	82.0					6																	49585820		2203	4300	6503	49693779	SO:0001583	missense	6005	exon3				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.453C>A	6.37:g.49585820G>T	ENSP00000360217:p.Phe151Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49693779	NM_000324	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.360253	0.00214	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.22743	1.94;1.94	5.67	-1.06	0.10002	Ammonium transporter AmtB-like (3);	0.526434	0.22392	N	0.060679	T	0.01940	0.0061	N	0.17838	0.53	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.002;0.004	T	0.41980	-0.9478	10	0.02654	T	1	-5.9727	3.4954	0.07653	0.1213:0.1415:0.3886:0.3486	.	151;151;151	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	L	151	ENSP00000360217:F151L;ENSP00000229810:F151L	ENSP00000229810:F151L	F	-	3	2	RHAG	49693779	0.263000	0.24083	0.011000	0.14972	0.004000	0.04260	0.037000	0.13840	-0.343000	0.08351	-2.336000	0.00247	TTC		0.388	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		
CRISP3	10321	broad.mit.edu	37	6	49701518	49701518	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:49701518G>A	ENST00000393666.1	-	4	327	c.321C>T	c.(319-321)agC>agT	p.S107S	CRISP3_ENST00000371159.4_Silent_p.S138S|CRISP3_ENST00000423399.2_Silent_p.S17S|CRISP3_ENST00000433368.2_Silent_p.S130S|CRISP3_ENST00000263045.4_Silent_p.S120S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	107	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.S107S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GTGACCATGAGCTGGAGGCAC	0.433																																					p.S120S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360T	6						.						152.0	141.0	145.0					6																	49701518		2203	4300	6503	49809477	SO:0001819	synonymous_variant	10321	exon5			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.321C>T	6.37:g.49701518G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49809477	NM_006061	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37																																																																																					0.433	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	
PKHD1	5314	broad.mit.edu	37	6	51524729	51524729	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:51524729G>T	ENST00000371117.3	-	61	10470	c.10195C>A	c.(10195-10197)Ctg>Atg	p.L3399M		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3399					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L3399M(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTTGCATCAGAAATTGGTAT	0.338																																					p.L3399M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10195A	6						.						48.0	42.0	44.0					6																	51524729		2203	4300	6503	51632688	SO:0001583	missense	5314	exon61			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10195C>A	6.37:g.51524729G>T	ENSP00000360158:p.Leu3399Met	Somatic		Capture	Illumina HiSeq	Phase_I	51632688	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	2.182	-0.387285	0.04932	.	.	ENSG00000170927	ENST00000371117	D	0.85484	-1.99	5.48	-3.7	0.04437	.	1.769590	0.02937	N	0.140004	T	0.47820	0.1466	N	0.14661	0.345	0.09310	N	1	B	0.18863	0.031	B	0.14023	0.01	T	0.41106	-0.9527	10	0.42905	T	0.14	.	0.4326	0.00473	0.3019:0.2967:0.1486:0.2528	.	3399	P08F94	PKHD1_HUMAN	M	3399	ENSP00000360158:L3399M	ENSP00000360158:L3399M	L	-	1	2	PKHD1	51632688	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.319000	0.08039	-0.312000	0.08741	-0.181000	0.13052	CTG		0.338	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
LINCMD1	101154644	broad.mit.edu	37	6	52013787	52013787	+	lincRNA	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:52013787T>C	ENST00000418518.2	-	0	238				MIR133B_ENST00000362210.1_RNA																							CCTGAGAGGTTTGGTCCCCTT	0.507																																					.												.	.	0			.	6						.						74.0	72.0	73.0					6																	52013787		1568	3582	5150	52121746			442890	.																															6.37:g.52013787T>C		Somatic		Capture	Illumina HiSeq	Phase_I	52121746	.		RNA	SNP	ENST00000418518.2	37																																																																																					0.507	MIR133BHG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000040895.1		
EFHC1	114327	broad.mit.edu	37	6	52319007	52319007	+	Missense_Mutation	SNP	G	G	A	rs553105915		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:52319007G>A	ENST00000371068.5	+	5	941	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	EFHC1_ENST00000538167.1_Missense_Mutation_p.E261K|EFHC1_ENST00000433625.2_Missense_Mutation_p.E189K	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	280	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.E280K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAGGTCCACGAACGGAATGA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.001				p.E280K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	6						.						186.0	168.0	174.0					6																	52319007		2203	4300	6503	52426966	SO:0001583	missense	114327	exon5			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.838G>A	6.37:g.52319007G>A	ENSP00000360107:p.Glu280Lys	Somatic		Capture	Illumina HiSeq	Phase_I	52426966	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738668	0.49045	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.42900	0.96;0.96;0.96	5.87	5.87	0.94306	Uncharacterised domain DM10 (2);	0.136606	0.64402	D	0.000004	T	0.12433	0.0302	N	0.25245	0.725	0.44660	D	0.997649	B;B;B	0.32731	0.138;0.382;0.178	B;B;B	0.28465	0.024;0.09;0.086	T	0.03993	-1.0986	10	0.07325	T	0.83	-30.0937	13.825	0.63346	0.0787:0.0:0.9213:0.0	.	261;189;280	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	K	280;189;261	ENSP00000360107:E280K;ENSP00000416492:E189K;ENSP00000444521:E261K	ENSP00000360107:E280K	E	+	1	0	EFHC1	52426966	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.539000	0.53604	2.779000	0.95612	0.591000	0.81541	GAA		0.438	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
GSTA5	221357	broad.mit.edu	37	6	52701053	52701053	+	Missense_Mutation	SNP	C	C	A	rs567348269		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:52701053C>A	ENST00000370989.2	-	3	282	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	GSTA5_ENST00000284562.2_Missense_Mutation_p.D85Y|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	85	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.D85Y(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCCTTCATGTCTTTCCCATAA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20097	0.001		0.0	False		,,,				2504	0.0				p.D85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253T	6						.						208.0	215.0	212.0					6																	52701053		2203	4300	6503	52809012	SO:0001583	missense	221357	exon4			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.253G>T	6.37:g.52701053C>A	ENSP00000360028:p.Asp85Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	52809012	NM_153699	Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955447	0.34471	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02158	4.42;4.42	2.59	2.59	0.31030	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	H	0.95294	3.65	0.58432	D	0.99999	D	0.89917	1.0	D	0.74348	0.983	T	0.08576	-1.0715	10	0.87932	D	0	.	13.1952	0.59734	0.0:1.0:0.0:0.0	.	85	Q7RTV2	GSTA5_HUMAN	Y	85	ENSP00000360028:D85Y;ENSP00000284562:D85Y	ENSP00000284562:D85Y	D	-	1	0	GSTA5	52809012	1.000000	0.71417	0.986000	0.45419	0.209000	0.24338	4.153000	0.58118	1.451000	0.47736	0.194000	0.17425	GAC		0.453	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699	
FBXO9	26268	broad.mit.edu	37	6	52962584	52962584	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:52962584G>A	ENST00000244426.6	+	12	1472	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	FBXO9_ENST00000323557.7_Missense_Mutation_p.A424T|FBXO9_ENST00000370939.3_Missense_Mutation_p.A390T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	434					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.A434T(1)		kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CTTGTTCTTCGCCAGAGTAAG	0.413																																					p.A434T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1300A	6						.						73.0	72.0	72.0					6																	52962584		1882	4123	6005	53070543	SO:0001583	missense	26268	exon12			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1300G>A	6.37:g.52962584G>A	ENSP00000244426:p.Ala434Thr	Somatic		Capture	Illumina HiSeq	Phase_I	53070543	NM_012347	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.376383|4.376383	0.82682|0.82682	.|.	.|.	ENSG00000112146|ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426|ENST00000484436	T;T;T|.	0.78126|.	-1.13;-1.14;-1.15|.	5.74|5.74	4.87|4.87	0.63330|0.63330	.|.	0.047447|.	0.85682|.	D|.	0.000000|.	T|T	0.62684|0.62684	0.2448|0.2448	M|M	0.63428|0.63428	1.95|1.95	0.58432|0.58432	D|D	0.999997|0.999997	D;P;P|.	0.57571|.	0.98;0.951;0.931|.	B;B;B|.	0.40066|.	0.307;0.318;0.129|.	T|T	0.63633|0.63633	-0.6593|-0.6593	10|5	0.54805|.	T|.	0.06|.	-27.2999|-27.2999	16.0903|16.0903	0.81086|0.81086	0.0:0.0:0.8649:0.1351|0.0:0.0:0.8649:0.1351	.|.	424;541;434|.	Q9UK97-2;Q59EH8;Q9UK97|.	.;.;FBX9_HUMAN|.	T|H	390;424;434|144	ENSP00000359977:A390T;ENSP00000326968:A424T;ENSP00000244426:A434T|.	ENSP00000244426:A434T|.	A|R	+|+	1|2	0|0	FBXO9|FBXO9	53070543|53070543	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	7.630000|7.630000	0.83225|0.83225	1.385000|1.385000	0.46445|0.46445	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.413	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3		
TINAG	27283	broad.mit.edu	37	6	54173579	54173579	+	Silent	SNP	G	G	A	rs185402162	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:54173579G>A	ENST00000259782.4	+	1	327	c.231G>A	c.(229-231)gcG>gcA	p.A77A	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.A59A|TINAG_ENST00000370869.3_Silent_p.A73A	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	77	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A77A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCTATGCGGCGAATGCGTTGT	0.438													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20221	0.0		0.0	False		,,,				2504	0.0				p.A77A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	6						.						219.0	203.0	209.0					6																	54173579		2203	4300	6503	54281538	SO:0001819	synonymous_variant	27283	exon1			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.231G>A	6.37:g.54173579G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54281538	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	CCDS4955.1																																																																																				0.438	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
HCRTR2	3062	broad.mit.edu	37	6	55039491	55039491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:55039491G>A	ENST00000370862.3	+	1	442	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	36					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.D36N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGACTATGACGACGAGGAATT	0.542																																					p.D36N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	6						.						152.0	134.0	140.0					6																	55039491		2203	4300	6503	55147450	SO:0001583	missense	3062	exon1			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.106G>A	6.37:g.55039491G>A	ENSP00000359899:p.Asp36Asn	Somatic		Capture	Illumina HiSeq	Phase_I	55147450	NM_001526	Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611564	0.66558	.	.	ENSG00000137252	ENST00000370862	T	0.35789	1.29	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.58101	1.795	0.80722	D	1	P	0.38767	0.646	B	0.27170	0.077	T	0.06463	-1.0825	10	0.18710	T	0.47	.	18.47	0.90769	0.0:0.0:1.0:0.0	.	36	O43614	OX2R_HUMAN	N	36	ENSP00000359899:D36N	ENSP00000359899:D36N	D	+	1	0	HCRTR2	55147450	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.189000	0.94928	2.599000	0.87857	0.563000	0.77884	GAC		0.542	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
GFRAL	389400	broad.mit.edu	37	6	55223857	55223857	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:55223857T>C	ENST00000340465.2	+	6	959	c.873T>C	c.(871-873)tgT>tgC	p.C291C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	291					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C291C(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGTGCAATGTACCTGTAGGA	0.403																																					p.C291C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T873C	6						.						155.0	138.0	144.0					6																	55223857		2203	4299	6502	55331816	SO:0001819	synonymous_variant	389400	exon6			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.873T>C	6.37:g.55223857T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55331816	NM_207410	Q5VTF6	Silent	SNP	ENST00000340465.2	37	CCDS4957.1																																																																																				0.403	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
COL21A1	81578	broad.mit.edu	37	6	55925566	55925566	+	Nonsense_Mutation	SNP	G	G	A	rs377112827		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:55925566G>A	ENST00000244728.5	-	27	2777	c.2380C>T	c.(2380-2382)Cga>Tga	p.R794*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R791*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R794*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.R194*|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	794					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R794*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAACTTGTCGAATAAATTGT	0.294																																					p.R794X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2380T	6						.	G	stop/ARG	1,3631		0,1,1815	61.0	59.0	60.0		2380	4.9	1.0	6		60	0,8158		0,0,4079	no	stop-gained	COL21A1	NM_030820.3		0,1,5894	AA,AG,GG		0.0,0.0275,0.0085		794/958	55925566	1,11789	1816	4079	5895	56033525	SO:0001587	stop_gained	81578	exon27			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2380C>T	6.37:g.55925566G>A	ENSP00000244728:p.Arg794*	Somatic		Capture	Illumina HiSeq	Phase_I	56033525	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	41	9.119605	0.99071	2.75E-4	0.0	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.9	4.9	0.64082	.	0.124807	0.33670	N	0.004678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	13.4261	0.61026	0.0:0.0:0.8429:0.1571	.	.	.	.	X	794;791;794;791;194	.	ENSP00000244728:R794X	R	-	1	2	COL21A1	56033525	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.752000	0.55172	2.431000	0.82371	0.655000	0.94253	CGA		0.294	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56417688	56417688	+	Missense_Mutation	SNP	G	G	A	rs112177059		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:56417688G>A	ENST00000361203.3	-	57	15276	c.15269C>T	c.(15268-15270)tCg>tTg	p.S5090L	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S3004L|DST_ENST00000370769.4_Missense_Mutation_p.S5092L|DST_ENST00000370788.2_Missense_Mutation_p.S3004L|DST_ENST00000244364.6_Missense_Mutation_p.S2678L|DST_ENST00000370754.5_Missense_Mutation_p.S5270L|DST_ENST00000446842.2_Missense_Mutation_p.S4766L			Q03001	DYST_HUMAN	dystonin	5090					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S5092L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATCCCAGCGAATCATGGAT	0.418																																					p.S2678L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8033T	6						.	G	LEU/SER	0,3812		0,0,1906	180.0	172.0	175.0		8033	6.1	0.2	6	dbSNP_132	175	2,8260		0,2,4129	yes	missense	DST	NM_015548.4	145	0,2,6035	AA,AG,GG		0.0242,0.0,0.0166	probably-damaging	2678/5172	56417688	2,12072	1906	4131	6037	56525647	SO:0001583	missense	667	exon42			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15269C>T	6.37:g.56417688G>A	ENSP00000354508:p.Ser5090Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56525647	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	14.02	2.411893	0.42817	0.0	2.42E-4	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.66815	1.04;-0.14;-0.15;-0.01;0.8;-0.04;-0.23	6.06	6.06	0.98353	.	0.000000	0.51477	D	0.000082	T	0.79811	0.4510	M	0.73598	2.24	0.27874	N	0.939936	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.952;0.971	D;D;D;B;B	0.77557	0.99;0.97;0.981;0.349;0.422	T	0.75912	-0.3150	9	0.40728	T	0.16	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3004;5092;5270;5090;2678	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	2678;5270;5092;3004;4766;3004;5090	ENSP00000244364:S2678L;ENSP00000359790:S5270L;ENSP00000359805:S5092L;ENSP00000400883:S3004L;ENSP00000393645:S4766L;ENSP00000359824:S3004L;ENSP00000354508:S5090L	ENSP00000244364:S2678L	S	-	2	0	DST	56525647	1.000000	0.71417	0.162000	0.22713	0.255000	0.26057	7.848000	0.86902	2.882000	0.98803	0.655000	0.94253	TCG		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
KIAA1586	57691	broad.mit.edu	37	6	56915605	56915605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:56915605G>A	ENST00000370733.4	+	3	346	c.139G>A	c.(139-141)Gat>Aat	p.D47N	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Intron	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	47							nucleic acid binding (GO:0003676)	p.D47N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAATACATCGATCTGGTCTG	0.343																																					p.D47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	6						.						241.0	208.0	219.0					6																	56915605		2203	4300	6503	57023564	SO:0001583	missense	57691	exon3			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.139G>A	6.37:g.56915605G>A	ENSP00000359768:p.Asp47Asn	Somatic		Capture	Illumina HiSeq	Phase_I	57023564	NM_020931	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.472577	0.43942	.	.	ENSG00000168116	ENST00000370733	T	0.71222	-0.55	3.88	2.97	0.34412	.	.	.	.	.	T	0.60025	0.2237	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	T	0.57808	-0.7747	9	0.27785	T	0.31	-16.9343	9.3019	0.37851	0.0:0.2207:0.7793:0.0	.	47	Q9HCI6	K1586_HUMAN	N	47	ENSP00000359768:D47N	ENSP00000359768:D47N	D	+	1	0	KIAA1586	57023564	1.000000	0.71417	0.439000	0.26833	0.048000	0.14542	1.706000	0.37878	0.918000	0.36919	0.460000	0.39030	GAT		0.343	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
ZNF451	26036	broad.mit.edu	37	6	57012272	57012272	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:57012272G>T	ENST00000370706.4	+	10	1633	c.1389G>T	c.(1387-1389)caG>caT	p.Q463H	RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.Q463H|ZNF451_ENST00000357489.3_Missense_Mutation_p.Q463H|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	463					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.Q463H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGTGTCCAGAAAGAAAAAT	0.378																																					p.Q463H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1389T	6						.						66.0	66.0	66.0					6																	57012272		2203	4299	6502	57120231	SO:0001583	missense	26036	exon10			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1389G>T	6.37:g.57012272G>T	ENSP00000359740:p.Gln463His	Somatic		Capture	Illumina HiSeq	Phase_I	57120231	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110766	0.20714	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.07114	3.22;3.22;3.22	5.3	3.17	0.36434	.	0.542263	0.19625	N	0.109819	T	0.06554	0.0168	M	0.63428	1.95	0.22888	N	0.99861	D;P;P;P	0.53151	0.958;0.855;0.883;0.855	P;P;B;P	0.51135	0.66;0.459;0.438;0.459	T	0.14172	-1.0482	10	0.56958	D	0.05	-13.1019	6.7931	0.23711	0.2397:0.1397:0.6205:0.0	.	463;463;463;463	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	H	463	ENSP00000359740:Q463H;ENSP00000350083:Q463H;ENSP00000421645:Q463H	ENSP00000350083:Q463H	Q	+	3	2	ZNF451	57120231	0.873000	0.30073	0.403000	0.26384	0.728000	0.41692	2.748000	0.47483	1.231000	0.43661	-0.145000	0.13849	CAG		0.378	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
LGSN	51557	broad.mit.edu	37	6	63990585	63990585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:63990585C>A	ENST00000370657.4	-	4	904	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	291					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.E291*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTGCCACTTCTTTGACACCT	0.428																																					p.E291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G871T	6						.						56.0	55.0	55.0					6																	63990585		2203	4300	6503	64048544	SO:0001587	stop_gained	51557	exon4			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.871G>T	6.37:g.63990585C>A	ENSP00000359691:p.Glu291*	Somatic		Capture	Illumina HiSeq	Phase_I	64048544	NM_016571	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404450	0.42613	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.32	5.32	0.75619	.	0.042369	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.1211	18.3384	0.90297	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000359691:E291X	E	-	1	0	LGSN	64048544	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.445000	0.80570	2.652000	0.90054	0.655000	0.94253	GAA		0.428	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
EYS	346007	broad.mit.edu	37	6	66045006	66045006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:66045006C>A	ENST00000370621.3	-	11	2159	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	EYS_ENST00000393380.2_Nonsense_Mutation_p.E545*|EYS_ENST00000503581.1_Nonsense_Mutation_p.E545*|EYS_ENST00000370616.2_Nonsense_Mutation_p.E545*|EYS_ENST00000370618.3_Nonsense_Mutation_p.E545*|EYS_ENST00000342421.5_Nonsense_Mutation_p.E545*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	545					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E545*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGACTGTCTTCTTCACTCAAA	0.353																																					p.E545X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1633T	6						.						148.0	137.0	141.0					6																	66045006		2203	4300	6503	66101727	SO:0001587	stop_gained	346007	exon10				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1633G>T	6.37:g.66045006C>A	ENSP00000359655:p.Glu545*	Somatic		Capture	Illumina HiSeq	Phase_I	66101727	NM_198283	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	c	34	5.329314	0.95733	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	11.5283	0.50593	0.0:1.0:0.0:0.0	.	.	.	.	X	545	.	ENSP00000341818:E545X	E	-	1	0	EYS	66101727	1.000000	0.71417	0.219000	0.23793	0.023000	0.10783	3.947000	0.56652	1.834000	0.53371	0.491000	0.48974	GAA		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
EYS	346007	broad.mit.edu	37	6	66200546	66200546	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:66200546C>A	ENST00000370621.3	-	5	1329	c.803G>T	c.(802-804)gGa>gTa	p.G268V	EYS_ENST00000393380.2_Missense_Mutation_p.G268V|EYS_ENST00000503581.1_Missense_Mutation_p.G268V|EYS_ENST00000370616.2_Missense_Mutation_p.G268V|EYS_ENST00000370618.3_Missense_Mutation_p.G268V|EYS_ENST00000342421.5_Missense_Mutation_p.G268V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	268	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G268V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTGCAGTTTCCATGGAAACA	0.299																																					p.G268V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G803T	6						.						70.0	66.0	68.0					6																	66200546		2203	4292	6495	66257267	SO:0001583	missense	346007	exon4				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.803G>T	6.37:g.66200546C>A	ENSP00000359655:p.Gly268Val	Somatic		Capture	Illumina HiSeq	Phase_I	66257267	NM_198283	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	9.586	1.124936	0.20959	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-2.22;-2.22;-2.22	4.53	2.63	0.31362	.	.	.	.	.	D	0.91855	0.7422	L	0.27053	0.805	0.35894	D	0.82986	P;D;D	0.60160	0.944;0.979;0.987	P;P;P	0.52217	0.646;0.675;0.693	D	0.90419	0.4415	9	0.87932	D	0	.	10.4895	0.44741	0.3667:0.6333:0.0:0.0	.	268;268;268	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	268	ENSP00000424243:G268V;ENSP00000359655:G268V;ENSP00000359650:G268V;ENSP00000377042:G268V;ENSP00000341818:G268V;ENSP00000359652:G268V	ENSP00000341818:G268V	G	-	2	0	EYS	66257267	0.812000	0.29077	0.002000	0.10522	0.480000	0.33159	1.897000	0.39799	0.397000	0.25310	0.650000	0.86243	GGA		0.299	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
COL9A1	1297	broad.mit.edu	37	6	70983757	70983757	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:70983757C>A	ENST00000357250.6	-	12	1216	c.1058G>T	c.(1057-1059)gGa>gTa	p.G353V	COL9A1_ENST00000320755.7_Missense_Mutation_p.G110V|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G110V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	353	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.G353V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TACTGGAAATCCACGCGATCC	0.289																																					p.G353V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058T	6						.						52.0	56.0	55.0					6																	70983757		2203	4300	6503	71040478	SO:0001583	missense	1297	exon12				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1058G>T	6.37:g.70983757C>A	ENSP00000349790:p.Gly353Val	Somatic		Capture	Illumina HiSeq	Phase_I	71040478	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235394	0.58886	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.97712	1.0191	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	353;110	P20849;P20849-2	CO9A1_HUMAN;.	V	353;110;110	ENSP00000349790:G353V;ENSP00000315252:G110V;ENSP00000359530:G110V	ENSP00000315252:G110V	G	-	2	0	COL9A1	71040478	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.448000	0.66612	2.885000	0.99019	0.655000	0.94253	GGA		0.289	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
COL9A1	1297	broad.mit.edu	37	6	70984470	70984470	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:70984470T>G	ENST00000357250.6	-	11	1139	c.981A>C	c.(979-981)ttA>ttC	p.L327F	COL9A1_ENST00000320755.7_Missense_Mutation_p.L84F|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.L84F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	327	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.L327F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGTCCTGTTAATCCCTAAT	0.363																																					p.L327F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A981C	6						.						95.0	91.0	92.0					6																	70984470		2203	4300	6503	71041191	SO:0001583	missense	1297	exon11				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.981A>C	6.37:g.70984470T>G	ENSP00000349790:p.Leu327Phe	Somatic		Capture	Illumina HiSeq	Phase_I	71041191	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615340	0.28801	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93604	-3.25;-3.25;-3.25	5.76	4.63	0.57726	.	0.000000	0.64402	D	0.000001	D	0.89252	0.6662	M	0.72894	2.215	0.49798	D	0.999828	B;P	0.39250	0.134;0.665	B;P	0.46917	0.064;0.531	D	0.86210	0.1624	10	0.15066	T	0.55	.	6.3025	0.21121	0.0:0.2057:0.0:0.7943	.	327;84	P20849;P20849-2	CO9A1_HUMAN;.	F	327;84;84	ENSP00000349790:L327F;ENSP00000315252:L84F;ENSP00000359530:L84F	ENSP00000315252:L84F	L	-	3	2	COL9A1	71041191	0.999000	0.42202	1.000000	0.80357	0.899000	0.52679	0.293000	0.19029	2.197000	0.70478	0.482000	0.46254	TTA		0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
FAM135A	57579	broad.mit.edu	37	6	71235120	71235120	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:71235120C>T	ENST00000418814.2	+	15	2947	c.2333C>T	c.(2332-2334)tCt>tTt	p.S778F	FAM135A_ENST00000361499.3_Missense_Mutation_p.S582F|FAM135A_ENST00000457062.2_Missense_Mutation_p.S565F|FAM135A_ENST00000370479.3_Missense_Mutation_p.S565F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.S778F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	778								p.S565F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAACCGAGTTCTTTTGCGACA	0.383																																					p.S778F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2333T	6						.						87.0	84.0	85.0					6																	71235120		2203	4298	6501	71291841	SO:0001583	missense	57579	exon13			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2333C>T	6.37:g.71235120C>T	ENSP00000410768:p.Ser778Phe	Somatic		Capture	Illumina HiSeq	Phase_I	71291841	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738194	0.69304	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	D;D;D;D	0.91635	0.999;0.972;0.997;0.999	T	0.65483	-0.6157	10	0.72032	D	0.01	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	778;778;582;565	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	F	778;565;565;582;778	ENSP00000410768:S778F;ENSP00000359510:S565F;ENSP00000409201:S565F;ENSP00000354913:S582F;ENSP00000423307:S778F	ENSP00000354913:S582F	S	+	2	0	FAM135A	71291841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.599000	0.82757	2.780000	0.95670	0.655000	0.94253	TCT		0.383	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
B3GAT2	135152	broad.mit.edu	37	6	71571569	71571569	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:71571569G>A	ENST00000230053.6	-	3	1457	c.849C>T	c.(847-849)gtC>gtT	p.V283V	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	283					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.V283V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCAGTTCTTCGACTGTTGTTA	0.453																																					p.V283V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	6						.						193.0	192.0	192.0					6																	71571569		2203	4300	6503	71628290	SO:0001819	synonymous_variant	135152	exon3			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.849C>T	6.37:g.71571569G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71628290	NM_080742	Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	CCDS4974.1																																																																																				0.453	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742	
B3GAT2	135152	broad.mit.edu	37	6	71665860	71665860	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:71665860G>A	ENST00000230053.6	-	1	881	c.273C>T	c.(271-273)cgC>cgT	p.R91R		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	91					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.R91R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TCTGCACCGGGCGGCTGTAGG	0.706																																					p.R91R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	6						.						31.0	35.0	34.0					6																	71665860		2199	4297	6496	71722581	SO:0001819	synonymous_variant	135152	exon1			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.273C>T	6.37:g.71665860G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71722581	NM_080742	Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	CCDS4974.1																																																																																				0.706	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742	
RP3-331H24.5	0	broad.mit.edu	37	6	72086711	72086711	+	lincRNA	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:72086711G>T	ENST00000602823.1	-	0	267				MIR30C2_ENST00000362224.1_RNA																							CCACAGCTGAGAGTGTAGGAT	0.438																																					.												.	.	0			.	6						.						89.0	84.0	86.0					6																	72086711		1568	3582	5150	72143432			407032	.																															6.37:g.72086711G>T		Somatic		Capture	Illumina HiSeq	Phase_I	72143432	.		RNA	SNP	ENST00000602823.1	37																																																																																					0.438	RP3-331H24.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000467928.1		
RIMS1	22999	broad.mit.edu	37	6	72967859	72967859	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:72967859A>C	ENST00000521978.1	+	17	2802	c.2802A>C	c.(2800-2802)aaA>aaC	p.K934N	RIMS1_ENST00000517960.1_Missense_Mutation_p.K933N|RIMS1_ENST00000401910.3_Missense_Mutation_p.K407N|RIMS1_ENST00000517827.1_Missense_Mutation_p.K393N|RIMS1_ENST00000491071.2_Missense_Mutation_p.K934N|RIMS1_ENST00000523963.1_Missense_Mutation_p.K408N|RIMS1_ENST00000520567.1_Missense_Mutation_p.K933N|RIMS1_ENST00000348717.5_Missense_Mutation_p.K933N|RIMS1_ENST00000264839.7_Missense_Mutation_p.K934N|RIMS1_ENST00000518273.1_Missense_Mutation_p.K934N|RIMS1_ENST00000425662.2_Missense_Mutation_p.K327N|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.K933N	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	934					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.K934N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGAAAGTAAATCTACAACAT	0.408																																					p.K327N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A981C	6						.						89.0	84.0	85.0					6																	72967859		1940	4135	6075	73024580	SO:0001583	missense	22999	exon12			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2802A>C	6.37:g.72967859A>C	ENSP00000428417:p.Lys934Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73024580	NM_001168409	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.41|16.41|16.41	3.115386|3.115386|3.115386	0.56505|0.56505|0.56505	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000522211	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.18016|.	.|2.5;2.66;2.58;2.66;2.65;2.65;2.66;2.57;2.65;2.65;2.66;2.52;2.66;2.24|.	5.19|5.19|5.19	2.82|2.82|2.82	0.32997|0.32997|0.32997	.|.|.	.|0.089153|.	.|0.48286|.	.|D|.	.|0.000196|.	T|T|T	0.35098|0.35098|0.35098	0.0920|0.0920|0.0920	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B;D;P;B;P;B;P;D;B;P;P|.	.|0.55800|.	.|0.428;0.0;0.973;0.883;0.167;0.59;0.304;0.885;0.958;0.081;0.856;0.469|.	.|B;B;P;P;B;B;B;B;P;B;B;B|.	.|0.53649|.	.|0.179;0.0;0.731;0.48;0.071;0.334;0.096;0.366;0.558;0.062;0.432;0.103|.	T|T|T	0.11203|0.11203|0.11203	-1.0597|-1.0597|-1.0597	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-21.4689|-21.4689|-21.4689	9.278|9.278|9.278	0.37711|0.37711|0.37711	0.8531:0.0:0.1469:0.0|0.8531:0.0:0.1469:0.0|0.8531:0.0:0.1469:0.0	.|.|.	.|393;408;934;393;407;933;186;934;933;187;934;934|.	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	L|N|T	508|934;934;934;933;934;933;934;933;934;933;933;934;407;408;327;327;393;159|25	.|ENSP00000430101:K934N;ENSP00000275037:K933N;ENSP00000264839:K934N;ENSP00000429959:K933N;ENSP00000430408:K934N;ENSP00000430502:K933N;ENSP00000430932:K933N;ENSP00000428417:K934N;ENSP00000385649:K407N;ENSP00000428328:K408N;ENSP00000411235:K327N;ENSP00000389503:K327N;ENSP00000428367:K393N;ENSP00000359448:K159N|.	.|ENSP00000264839:K934N|.	I|K|N	+|+|+	1|3|2	0|2|0	RIMS1|RIMS1|RIMS1	73024580|73024580|73024580	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.985000|0.985000|0.985000	0.45067|0.45067|0.45067	0.796000|0.796000|0.796000	0.44982|0.44982|0.44982	2.461000|2.461000|2.461000	0.45040|0.45040|0.45040	0.325000|0.325000|0.325000	0.23359|0.23359|0.23359	-0.361000|-0.361000|-0.361000	0.07541|0.07541|0.07541	ATC|AAA|AAT		0.408	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	broad.mit.edu	37	6	73100303	73100303	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:73100303C>T	ENST00000521978.1	+	30	4370	c.4370C>T	c.(4369-4371)tCg>tTg	p.S1457L	RIMS1_ENST00000517960.1_Missense_Mutation_p.S1240L|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.S777L|RIMS1_ENST00000517827.1_Missense_Mutation_p.S591L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S1280L|RIMS1_ENST00000523963.1_Missense_Mutation_p.S582L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S1107L|RIMS1_ENST00000414192.2_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.S1240L|RIMS1_ENST00000264839.7_Missense_Mutation_p.S1306L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S1136L|RIMS1_ENST00000425662.2_Missense_Mutation_p.S525L|RIMS1_ENST00000538414.1_Missense_Mutation_p.S263L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S1056L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1457					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.S1457L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTGTCAGAGTCGGGCCACAAA	0.393																																					p.S525L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1574T	6						.						31.0	32.0	32.0					6																	73100303		1987	4179	6166	73157024	SO:0001583	missense	22999	exon18			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4370C>T	6.37:g.73100303C>T	ENSP00000428417:p.Ser1457Leu	Somatic		Capture	Illumina HiSeq	Phase_I	73157024	NM_001168409	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.058946|3.058946	0.55325|0.55325	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.18016	.|2.5;2.64;2.59;2.64;2.64;2.63;2.6;2.59;2.66;2.63;2.66;2.48;2.65;2.24;2.25	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.349670	.|0.24001	.|N	.|0.042477	T|T	0.04407|0.04407	0.0121|0.0121	N|N	0.08118|0.08118	0|0	0.32927|0.32927	D|D	0.516631|0.516631	.|B;B;B;P;B;B;B;B;P;B;B;B;B	.|0.46020	.|0.081;0.214;0.045;0.505;0.271;0.214;0.012;0.033;0.871;0.012;0.103;0.103;0.226	.|B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.34038	.|0.03;0.03;0.018;0.174;0.057;0.03;0.007;0.018;0.154;0.007;0.026;0.017;0.026	T|T	0.17592|0.17592	-1.0364|-1.0364	5|10	.|0.40728	.|T	.|0.16	-4.7155|-4.7155	20.0207|20.0207	0.97499|0.97499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|81;263;591;582;1306;777;1056;360;1136;1240;533;1280;1457	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	W|L	375|1280;1306;1280;1240;1136;1056;1306;1240;1136;1107;1056;1457;777;582;525;622;591;505;263	.|ENSP00000430101:S1280L;ENSP00000275037:S1240L;ENSP00000264839:S1306L;ENSP00000429959:S1240L;ENSP00000430408:S1136L;ENSP00000430502:S1107L;ENSP00000430932:S1056L;ENSP00000428417:S1457L;ENSP00000385649:S777L;ENSP00000428328:S582L;ENSP00000411235:S525L;ENSP00000389503:S622L;ENSP00000428367:S591L;ENSP00000359448:S505L;ENSP00000439730:S263L	.|ENSP00000264839:S1306L	R|S	+|+	1|2	2|0	RIMS1|RIMS1	73157024|73157024	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.925000|0.925000	0.55904|0.55904	5.088000|5.088000	0.64486|0.64486	2.739000|2.739000	0.93911|0.93911	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	broad.mit.edu	37	6	73110381	73110381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:73110381G>T	ENST00000521978.1	+	34	5044	c.5044G>T	c.(5044-5046)Gaa>Taa	p.E1682*	RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E1465*|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.E1002*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.E816*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E1471*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.E807*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E1332*|RIMS1_ENST00000414192.2_Nonsense_Mutation_p.E209*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E1465*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E1531*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E1361*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.E750*|RIMS1_ENST00000538414.1_Nonsense_Mutation_p.E488*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E1281*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1682					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.E1682*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCATCTCTGGAAAGTTCAAC	0.483																																					p.E750X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2248T	6						.						77.0	77.0	77.0					6																	73110381		1879	4119	5998	73167102	SO:0001587	stop_gained	22999	exon22			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.5044G>T	6.37:g.73110381G>T	ENSP00000428417:p.Glu1682*	Somatic		Capture	Illumina HiSeq	Phase_I	73167102	NM_001168409	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	35|35|35	5.481639|5.481639|5.481639	0.96307|0.96307|0.96307	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433|ENST00000522211	.|.|.	.|.|.	.|.|.	5.48|5.48|5.48	5.48|5.48|5.48	0.80851|0.80851|0.80851	.|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000009|.|.	.|T|T	.|0.71187|0.71187	.|0.3310|0.3310	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.68561|0.68561	.|-0.5376|-0.5376	.|4|4	0.66056|.|.	D|.|.	0.02|.|.	-24.2966|-24.2966|-24.2966	19.7098|19.7098|19.7098	0.96094|0.96094|0.96094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	1471;1531;1471;1465;1361;1281;1531;1465;1361;1332;1281;1682;1002;807;750;816;730;488;209|1027|599	.|.|.	ENSP00000264839:E1531X|.|.	E|G|W	+|+|+	1|2|3	0|0|0	RIMS1|RIMS1|RIMS1	73167102|73167102|73167102	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	9.735000|9.735000|9.735000	0.98825|0.98825|0.98825	2.713000|2.713000|2.713000	0.92767|0.92767|0.92767	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.483	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
DDX43	55510	broad.mit.edu	37	6	74123491	74123491	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:74123491C>T	ENST00000370336.4	+	12	1637	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	493	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.F493F(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCATTGTCTTCGTTTCTCGAA	0.338																																					p.F493F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1479T	6						.						98.0	94.0	95.0					6																	74123491		2203	4300	6503	74180212	SO:0001819	synonymous_variant	55510	exon12				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1479C>T	6.37:g.74123491C>T		Somatic		Capture	Illumina HiSeq	Phase_I	74180212	NM_018665	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1																																																																																				0.338	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665	
CD109	135228	broad.mit.edu	37	6	74440129	74440129	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:74440129G>T	ENST00000287097.5	+	4	451	c.339G>T	c.(337-339)gaG>gaT	p.E113D	CD109_ENST00000422508.2_Intron|CD109_ENST00000437994.2_Missense_Mutation_p.E113D			Q6YHK3	CD109_HUMAN	CD109 molecule	113					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.E113D(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCAGGATGAGATTTTATTCT	0.418																																					p.E113D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	6						.						141.0	136.0	138.0					6																	74440129		2203	4300	6503	74496850	SO:0001583	missense	135228	exon4			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.339G>T	6.37:g.74440129G>T	ENSP00000287097:p.Glu113Asp	Somatic		Capture	Illumina HiSeq	Phase_I	74496850	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.837055	0.00579	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.23552	1.9;1.9	4.35	2.55	0.30701	.	0.772370	0.11914	N	0.517378	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25955	0.138;0.002;0.002	B;B;B	0.18561	0.022;0.01;0.004	T	0.39702	-0.9601	10	0.13470	T	0.59	.	1.1702	0.01823	0.2001:0.1756:0.4425:0.1817	.	113;113;113	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	D	113	ENSP00000388062:E113D;ENSP00000287097:E113D	ENSP00000287097:E113D	E	+	3	2	CD109	74496850	0.006000	0.16342	0.972000	0.41901	0.273000	0.26683	0.738000	0.26158	1.178000	0.42870	0.655000	0.94253	GAG		0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
CD109	135228	broad.mit.edu	37	6	74472470	74472470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:74472470G>T	ENST00000287097.5	+	9	974	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CD109_ENST00000422508.2_Nonsense_Mutation_p.G211*|CD109_ENST00000437994.2_Nonsense_Mutation_p.G288*			Q6YHK3	CD109_HUMAN	CD109 molecule	288					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.G288*(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGATAAATGGATCTGCAAA	0.303																																					p.G288X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G862T	6						.						66.0	69.0	68.0					6																	74472470		2203	4299	6502	74529191	SO:0001587	stop_gained	135228	exon9			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.862G>T	6.37:g.74472470G>T	ENSP00000287097:p.Gly288*	Somatic		Capture	Illumina HiSeq	Phase_I	74529191	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Nonsense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	37	6.591835	0.97688	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	5.06	5.06	0.68205	.	0.619046	0.17695	N	0.165126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	.	.	.	X	288;211;288	.	ENSP00000287097:G288X	G	+	1	0	CD109	74529191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.112000	0.57845	2.630000	0.89119	0.561000	0.74099	GGA		0.303	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
CD109	135228	broad.mit.edu	37	6	74490195	74490195	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:74490195T>C	ENST00000287097.5	+	16	1988	c.1876T>C	c.(1876-1878)Ttc>Ctc	p.F626L	CD109_ENST00000422508.2_Missense_Mutation_p.F549L|CD109_ENST00000437994.2_Missense_Mutation_p.F626L			Q6YHK3	CD109_HUMAN	CD109 molecule	626	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.F626L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTAGGCATGTTCATGAATTC	0.313																																					p.F626L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1876C	6						.						231.0	232.0	231.0					6																	74490195		2203	4300	6503	74546916	SO:0001583	missense	135228	exon16			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1876T>C	6.37:g.74490195T>C	ENSP00000287097:p.Phe626Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74546916	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450341	0.43531	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.22945	1.94;2.15;1.93	5.18	5.18	0.71444	.	1.969230	0.03525	U	0.221585	T	0.06781	0.0173	N	0.19112	0.55	0.31577	N	0.655642	B;B;B;B	0.18610	0.006;0.029;0.007;0.002	B;B;B;B	0.12837	0.006;0.008;0.008;0.004	T	0.23048	-1.0199	10	0.12103	T	0.63	.	9.4096	0.38482	0.0:0.0:0.1951:0.8049	.	549;626;626;626	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	L	626;549;626	ENSP00000388062:F626L;ENSP00000404475:F549L;ENSP00000287097:F626L	ENSP00000287097:F626L	F	+	1	0	CD109	74546916	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	0.975000	0.29449	2.180000	0.69256	0.528000	0.53228	TTC		0.313	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
CD109	135228	broad.mit.edu	37	6	74528176	74528176	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:74528176T>C	ENST00000287097.5	+	31	4089	c.3977T>C	c.(3976-3978)gTg>gCg	p.V1326A	CD109_ENST00000422508.2_Missense_Mutation_p.V1249A|CD109_ENST00000437994.2_Missense_Mutation_p.V1309A			Q6YHK3	CD109_HUMAN	CD109 molecule	1326					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.V1326A(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTTTATGGTGCCTTCAGAA	0.408																																					p.V1326A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3977C	6						.						109.0	109.0	109.0					6																	74528176		2203	4300	6503	74584897	SO:0001583	missense	135228	exon31			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3977T>C	6.37:g.74528176T>C	ENSP00000287097:p.Val1326Ala	Somatic		Capture	Illumina HiSeq	Phase_I	74584897	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	T	2.056	-0.416620	0.04766	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21543	2.0;2.0;2.0	4.59	3.43	0.39272	Alpha-macroglobulin, receptor-binding (3);	0.221383	0.40554	N	0.001069	T	0.03220	0.0094	N	0.21097	0.63	0.09310	N	1	B;B;B	0.15141	0.012;0.003;0.001	B;B;B	0.18871	0.023;0.01;0.013	T	0.44128	-0.9348	10	0.02654	T	1	.	9.969	0.41743	0.0:0.0804:0.0:0.9196	.	1249;1309;1326	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	A	1309;1249;1326	ENSP00000388062:V1309A;ENSP00000404475:V1249A;ENSP00000287097:V1326A	ENSP00000287097:V1326A	V	+	2	0	CD109	74584897	0.259000	0.24043	0.256000	0.24389	0.068000	0.16541	1.791000	0.38744	0.909000	0.36697	0.397000	0.26171	GTG		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
COL12A1	1303	broad.mit.edu	37	6	75834957	75834957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:75834957C>A	ENST00000322507.8	-	40	6802	c.6493G>T	c.(6493-6495)Gaa>Taa	p.E2165*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.E2165*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.E1001*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.E2165*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2165	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.E2165*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GATGTCATTTCTCCAACAAAG	0.378																																					p.E2165X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6493T	6						.						117.0	114.0	115.0					6																	75834957		1914	4125	6039	75891677	SO:0001587	stop_gained	1303	exon40			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6493G>T	6.37:g.75834957C>A	ENSP00000325146:p.Glu2165*	Somatic		Capture	Illumina HiSeq	Phase_I	75891677	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	46	12.932961	0.99707	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	5.22	5.22	0.72569	.	0.065767	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.1385	0.93438	0.0:1.0:0.0:0.0	.	.	.	.	X	2165;2165;1001;2165;2165	.	ENSP00000325146:E2165X	E	-	1	0	COL12A1	75891677	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.356000	0.79445	2.612000	0.88384	0.591000	0.81541	GAA		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75890921	75890921	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:75890921A>G	ENST00000322507.8	-	11	2207	c.1898T>C	c.(1897-1899)gTc>gCc	p.V633A	COL12A1_ENST00000483888.2_Missense_Mutation_p.V633A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V633A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	633					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.V633A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTTGGAGGGACGTAAGCTAT	0.303																																					p.V633A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1898C	6						.						44.0	45.0	44.0					6																	75890921		1837	4075	5912	75947641	SO:0001583	missense	1303	exon11			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1898T>C	6.37:g.75890921A>G	ENSP00000325146:p.Val633Ala	Somatic		Capture	Illumina HiSeq	Phase_I	75947641	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277441	0.23307	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.85702	-2.01;-2.02;-1.99	5.68	5.68	0.88126	Fibronectin, type III (3);	0.204155	0.33813	N	0.004522	T	0.78874	0.4352	M	0.63428	1.95	0.39282	D	0.964577	B;P	0.35684	0.013;0.515	B;B	0.40636	0.005;0.335	T	0.81169	-0.1055	10	0.48119	T	0.1	.	10.3035	0.43667	0.9267:0.0:0.0733:0.0	.	633;633	D6RGG3;Q99715	.;COCA1_HUMAN	A	633	ENSP00000325146:V633A;ENSP00000412864:V633A;ENSP00000421216:V633A	ENSP00000325146:V633A	V	-	2	0	COL12A1	75947641	0.631000	0.27164	0.997000	0.53966	0.180000	0.23129	5.579000	0.67457	2.159000	0.67721	0.528000	0.53228	GTC		0.303	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75893339	75893339	+	Missense_Mutation	SNP	C	C	T	rs563331592		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:75893339C>T	ENST00000322507.8	-	10	1627	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	COL12A1_ENST00000483888.2_Missense_Mutation_p.D440N|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.D440N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	440	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D440N(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACAATATCGGCTTTTATA	0.303													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0				p.D440N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318A	6						.						78.0	75.0	76.0					6																	75893339		1822	4081	5903	75950059	SO:0001583	missense	1303	exon10			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1318G>A	6.37:g.75893339C>T	ENSP00000325146:p.Asp440Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75950059	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881000	0.91740	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.92149	-2.98;-2.98;-2.98	5.34	5.34	0.76211	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.96408	0.8828	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95822	0.8850	10	0.51188	T	0.08	.	19.4178	0.94709	0.0:1.0:0.0:0.0	.	440;440	D6RGG3;Q99715	.;COCA1_HUMAN	N	440	ENSP00000325146:D440N;ENSP00000412864:D440N;ENSP00000421216:D440N	ENSP00000325146:D440N	D	-	1	0	COL12A1	75950059	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	7.776000	0.85560	2.654000	0.90174	0.655000	0.94253	GAT		0.303	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
TMEM30A	55754	broad.mit.edu	37	6	75968580	75968580	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:75968580G>A	ENST00000230461.6	-	6	1137	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	TMEM30A_ENST00000475111.2_Missense_Mutation_p.R234C|TMEM30A_ENST00000370050.5_Missense_Mutation_p.R151C	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	270					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R270C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACAACTTGCGAAAAGTAGGT	0.373																																					p.R270C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C808T	6						.						107.0	101.0	103.0					6																	75968580		2203	4300	6503	76025300	SO:0001583	missense	55754	exon6			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.808C>T	6.37:g.75968580G>A	ENSP00000230461:p.Arg270Cys	Somatic		Capture	Illumina HiSeq	Phase_I	76025300	NM_018247	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418713	0.83559	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91003	0.4844	9	0.87932	D	0	.	14.3308	0.66556	0.0:0.0:0.8516:0.1484	.	234;270	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	C	270;254;151;234	.	ENSP00000230461:R270C	R	-	1	0	TMEM30A	76025300	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.983000	0.70540	2.605000	0.88082	0.591000	0.81541	CGC		0.373	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247	
PHIP	55023	broad.mit.edu	37	6	79680570	79680570	+	Silent	SNP	G	G	A	rs140757402		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:79680570G>A	ENST00000275034.4	-	25	3092	c.2925C>T	c.(2923-2925)gtC>gtT	p.V975V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	975	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.V975V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGGCCATTTCGACATAGGCTT	0.328																																					p.V975V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2925T	6						.						91.0	87.0	88.0					6																	79680570		2202	4299	6501	79737289	SO:0001819	synonymous_variant	55023	exon25			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2925C>T	6.37:g.79680570G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79737289	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
LCA5	167691	broad.mit.edu	37	6	80197422	80197422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:80197422C>A	ENST00000392959.1	-	9	2004	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	LCA5_ENST00000369846.4_Nonsense_Mutation_p.E465*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	465					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E465*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTAGCATTTCTCTCTTCAGT	0.368																																					p.E465X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1393T	6						.						141.0	140.0	140.0					6																	80197422		2203	4300	6503	80254141	SO:0001587	stop_gained	167691	exon9				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1393G>T	6.37:g.80197422C>A	ENSP00000376686:p.Glu465*	Somatic		Capture	Illumina HiSeq	Phase_I	80254141	NM_181714	E1P542|Q9BWX7	Nonsense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	37	5.997505	0.97184	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	.	.	.	5.94	4.17	0.49024	.	0.242623	0.41097	D	0.000956	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6788	11.4638	0.50225	0.0:0.8565:0.0:0.1435	.	.	.	.	X	465	.	ENSP00000358861:E465X	E	-	1	0	LCA5	80254141	0.995000	0.38212	0.996000	0.52242	0.253000	0.25986	1.746000	0.38288	0.846000	0.35142	0.591000	0.81541	GAA		0.368	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
SH3BGRL2	83699	broad.mit.edu	37	6	80383405	80383405	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:80383405A>G	ENST00000369838.4	+	2	299	c.120A>G	c.(118-120)acA>acG	p.T40T		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	40						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T40T(1)		large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TGGATATCACAATGTCAGAAG	0.443																																					p.T40T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A120G	6						.						127.0	128.0	128.0					6																	80383405		2203	4300	6503	80440124	SO:0001819	synonymous_variant	83699	exon2			AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"""SH3 domain binding glutamic acid-rich protein like 2"""			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.120A>G	6.37:g.80383405A>G		Somatic		Capture	Illumina HiSeq	Phase_I	80440124	NM_031469	A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Silent	SNP	ENST00000369838.4	37	CCDS4991.1																																																																																				0.443	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1		
TTK	7272	broad.mit.edu	37	6	80744847	80744847	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:80744847G>A	ENST00000369798.2	+	15	1871	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	TTK_ENST00000230510.3_Missense_Mutation_p.R586Q|TTK_ENST00000509894.1_Missense_Mutation_p.R586Q	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R571Q(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAGATCATCCGACTTTATGAT	0.279																																					p.R586Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1757A	6						.						63.0	67.0	66.0					6																	80744847		2192	4282	6474	80801566	SO:0001583	missense	7272	exon15				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1760G>A	6.37:g.80744847G>A	ENSP00000358813:p.Arg587Gln	Somatic		Capture	Illumina HiSeq	Phase_I	80801566	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986728	0.53934	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74421	-0.84;-0.84;-0.84	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054464	0.64402	D	0.000001	T	0.60534	0.2276	N	0.17474	0.49	0.40551	D	0.98111	D;D	0.53745	0.962;0.961	P;P	0.49922	0.626;0.534	T	0.61734	-0.7002	10	0.30854	T	0.27	.	18.7264	0.91716	0.0:0.0:1.0:0.0	.	587;586	P33981;A8K8U5	TTK_HUMAN;.	Q	586;586;587	ENSP00000422936:R586Q;ENSP00000230510:R586Q;ENSP00000358813:R587Q	ENSP00000230510:R586Q	R	+	2	0	TTK	80801566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.284000	0.78650	2.672000	0.90937	0.551000	0.68910	CGA		0.279	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
TTK	7272	broad.mit.edu	37	6	80749554	80749554	+	Missense_Mutation	SNP	G	G	A	rs2230512	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:80749554G>A	ENST00000369798.2	+	19	2383	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	TTK_ENST00000230510.3_Missense_Mutation_p.D757N|TTK_ENST00000509894.1_Missense_Mutation_p.D757N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs2230512).		chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D742N(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTTCCCGATATTCCAGA	0.269													G|||	11	0.00219649	0.0083	0.0	5008	,	,		12837	0.0		0.0	False		,,,				2504	0.0				p.D757N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2269A	6						.	G	ASN/ASP,ASN/ASP	45,4357	46.7+/-81.2	0,45,2156	54.0	54.0	54.0		2269,2272	4.9	1.0	6	dbSNP_98	54	0,8578		0,0,4289	yes	missense,missense	TTK	NM_001166691.1,NM_003318.4	23,23	0,45,6445	AA,AG,GG		0.0,1.0223,0.3467	benign,benign	757/857,758/858	80749554	45,12935	2201	4289	6490	80806273	SO:0001583	missense	7272	exon19				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2272G>A	6.37:g.80749554G>A	ENSP00000358813:p.Asp758Asn	Somatic		Capture	Illumina HiSeq	Phase_I	80806273	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.12	1.261975	0.23051	0.010223	0.0	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74209	-0.82;-0.82;-0.82	5.75	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132776	0.64402	D	0.000002	T	0.46776	0.1410	L	0.41824	1.3	0.49582	D	0.999806	B;P	0.34615	0.073;0.459	B;B	0.29716	0.023;0.106	T	0.50197	-0.8856	10	0.30078	T	0.28	.	9.9745	0.41774	0.153:0.0:0.847:0.0	rs2230512	758;757	P33981;A8K8U5	TTK_HUMAN;.	N	757;757;758	ENSP00000422936:D757N;ENSP00000230510:D757N;ENSP00000358813:D758N	ENSP00000230510:D757N	D	+	1	0	TTK	80806273	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.681000	0.84073	1.424000	0.47217	0.650000	0.86243	GAT		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
ME1	4199	broad.mit.edu	37	6	83921694	83921694	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:83921694A>G	ENST00000369705.3	-	14	1784	c.1668T>C	c.(1666-1668)tgT>tgC	p.C556C	ME1_ENST00000541327.1_Silent_p.C390C|ME1_ENST00000543031.1_Silent_p.C481C	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	556					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.C556C(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		GCCAAGAATAACAATCAGGTA	0.383																																					p.C556C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1668C	6						.						148.0	134.0	139.0					6																	83921694		2203	4300	6503	83978413	SO:0001819	synonymous_variant	4199	exon14			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1668T>C	6.37:g.83921694A>G		Somatic		Capture	Illumina HiSeq	Phase_I	83978413	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	CCDS34492.1																																																																																				0.383	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
PRSS35	167681	broad.mit.edu	37	6	84233872	84233872	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:84233872C>T	ENST00000369700.3	+	2	889	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	PRSS35_ENST00000536636.1_Missense_Mutation_p.R238W	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	238	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.R238W(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AAAATCTGGCCGGGGTCAGAG	0.587																																					p.R238W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712T	6						.						53.0	63.0	60.0					6																	84233872		2203	4300	6503	84290591	SO:0001583	missense	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.712C>T	6.37:g.84233872C>T	ENSP00000358714:p.Arg238Trp	Somatic		Capture	Illumina HiSeq	Phase_I	84290591	NM_001170423	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	8.319	0.823916	0.16678	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.51817	0.69;0.69	5.65	-0.037	0.13886	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.561774	0.18481	N	0.139923	T	0.27731	0.0682	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.47528	0.549	T	0.14783	-1.0460	10	0.72032	D	0.01	-8.6473	5.6109	0.17404	0.3716:0.4059:0.1574:0.065	.	238	Q8N3Z0	PRS35_HUMAN	W	238	ENSP00000440870:R238W;ENSP00000358714:R238W	ENSP00000358714:R238W	R	+	1	2	PRSS35	84290591	0.172000	0.23043	0.000000	0.03702	0.026000	0.11368	0.727000	0.25999	-0.160000	0.11002	-1.943000	0.00494	CGG		0.587	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
SNAP91	9892	broad.mit.edu	37	6	84303204	84303204	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:84303204G>T	ENST00000439399.2	-	18	2005	c.1689C>A	c.(1687-1689)atC>atA	p.I563I	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000428679.2_Silent_p.I563I|SNAP91_ENST00000369694.2_Silent_p.I563I|SNAP91_ENST00000521743.1_Silent_p.I563I|SNAP91_ENST00000195649.6_Silent_p.I563I|SNAP91_ENST00000520302.1_Silent_p.I561I|SNAP91_ENST00000521485.1_Silent_p.I563I	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	563	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.I563I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCACCAAAGATATCTAGAG	0.507																																					p.I563I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1689A	6						.						26.0	27.0	27.0					6																	84303204		2037	4049	6086	84359923	SO:0001819	synonymous_variant	9892	exon17			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1689C>A	6.37:g.84303204G>T		Somatic		Capture	Illumina HiSeq	Phase_I	84359923	NM_014841	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1																																																																																				0.507	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
SNAP91	9892	broad.mit.edu	37	6	84311154	84311154	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:84311154G>T	ENST00000439399.2	-	16	1476	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.S387Y|SNAP91_ENST00000369694.2_Missense_Mutation_p.S387Y|SNAP91_ENST00000521743.1_Missense_Mutation_p.S387Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S387Y|SNAP91_ENST00000520302.1_Missense_Mutation_p.S385Y|SNAP91_ENST00000521485.1_Missense_Mutation_p.S387Y	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	387	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.S387Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCAGCCAAAGAATCTATATT	0.423																																					p.S387Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1160A	6						.						72.0	71.0	71.0					6																	84311154		1912	4117	6029	84367873	SO:0001583	missense	9892	exon15			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1160C>A	6.37:g.84311154G>T	ENSP00000400459:p.Ser387Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	84367873	NM_014841	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.65|13.65	2.299197|2.299197	0.40694|0.40694	.|.	.|.	ENSG00000065609|ENSG00000065609	ENST00000369691|ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	.|T;T;T;T;T;T;T	.|0.15952	.|2.39;2.39;2.39;2.39;2.38;2.41;2.39	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.377705	.|0.27375	.|N	.|0.019652	T|T	0.06142|0.06142	0.0159|0.0159	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23650	.|0.037;0.089;0.037	.|B;B;B	.|0.21546	.|0.035;0.035;0.035	T|T	0.08493|0.08493	-1.0719|-1.0719	5|10	.|0.08599	.|T	.|0.76	-17.6884|-17.6884	11.42|11.42	0.49976|0.49976	0.0:0.1261:0.7275:0.1464|0.0:0.1261:0.7275:0.1464	.|.	.|385;387;385	.|E5RI02;O60641;E1P549	.|.;AP180_HUMAN;.	L|Y	46|387;387;387;387;387;385;387;113	.|ENSP00000429776:S387Y;ENSP00000358708:S387Y;ENSP00000400459:S387Y;ENSP00000195649:S387Y;ENSP00000412492:S387Y;ENSP00000428511:S385Y;ENSP00000428215:S387Y	.|ENSP00000195649:S387Y	F|S	-|-	3|2	2|0	SNAP91|SNAP91	84367873|84367873	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.718000|0.718000	0.41266|0.41266	2.753000|2.753000	0.47524|0.47524	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.423	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
SNAP91	9892	broad.mit.edu	37	6	84372137	84372137	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:84372137A>C	ENST00000439399.2	-	4	594	c.278T>G	c.(277-279)tTt>tGt	p.F93C	SNAP91_ENST00000520213.1_Missense_Mutation_p.F93C|SNAP91_ENST00000437520.1_Missense_Mutation_p.F93C|SNAP91_ENST00000428679.2_Missense_Mutation_p.F93C|SNAP91_ENST00000369694.2_Missense_Mutation_p.F93C|SNAP91_ENST00000521743.1_Missense_Mutation_p.F93C|SNAP91_ENST00000195649.6_Missense_Mutation_p.F93C|SNAP91_ENST00000520302.1_Missense_Mutation_p.F93C|SNAP91_ENST00000521485.1_Missense_Mutation_p.F93C	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	93	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.F93C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATATTGAATAAATCTCTGAAA	0.239																																					p.F93C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278G	6						.						20.0	19.0	19.0					6																	84372137		1769	4014	5783	84428856	SO:0001583	missense	9892	exon4			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.278T>G	6.37:g.84372137A>C	ENSP00000400459:p.Phe93Cys	Somatic		Capture	Illumina HiSeq	Phase_I	84428856	NM_014841	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133086	0.77662	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.34	5.34	0.76211	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.75883	-0.3160	10	0.87932	D	0	-15.193	15.6069	0.76679	1.0:0.0:0.0:0.0	.	93;93;93;93	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	C	93	ENSP00000429776:F93C;ENSP00000358708:F93C;ENSP00000400459:F93C;ENSP00000195649:F93C;ENSP00000412492:F93C;ENSP00000413277:F93C;ENSP00000428511:F93C;ENSP00000428215:F93C;ENSP00000428026:F93C;ENSP00000430071:F93C;ENSP00000429429:F93C;ENSP00000430441:F93C;ENSP00000358704:F93C;ENSP00000427959:F93C	ENSP00000195649:F93C	F	-	2	0	SNAP91	84428856	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.950000	0.93019	2.141000	0.66446	0.482000	0.46254	TTT		0.239	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
MRAP2	112609	broad.mit.edu	37	6	84765162	84765162	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:84765162A>C	ENST00000257776.4	+	2	260	c.125A>C	c.(124-126)aAa>aCa	p.K42T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	42					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.K42T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGGCTCATAAATGTAAGTTT	0.363																																					p.K42T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A125C	6						.						57.0	59.0	58.0					6																	84765162		2203	4300	6503	84821881	SO:0001583	missense	112609	exon2			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.125A>C	6.37:g.84765162A>C	ENSP00000257776:p.Lys42Thr	Somatic		Capture	Illumina HiSeq	Phase_I	84821881	NM_138409	A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789464	0.49997	.	.	ENSG00000135324	ENST00000257776	D	0.89552	-2.53	5.56	4.41	0.53225	.	0.052804	0.85682	D	0.000000	D	0.89427	0.6712	M	0.69823	2.125	0.42139	D	0.991504	D	0.55385	0.971	P	0.55455	0.776	D	0.90518	0.4486	10	0.66056	D	0.02	0.3046	10.901	0.47051	0.927:0.0:0.0729:0.0	.	42	Q96G30	MRAP2_HUMAN	T	42	ENSP00000257776:K42T	ENSP00000257776:K42T	K	+	2	0	MRAP2	84821881	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.955000	0.63638	2.104000	0.64026	0.523000	0.50628	AAA		0.363	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409	
TBX18	9096	broad.mit.edu	37	6	85457757	85457757	+	Missense_Mutation	SNP	G	G	A	rs149934675		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:85457757G>A	ENST00000369663.5	-	5	1157	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.R116C	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	274					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R274C(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGTCTTTACGGATGACGTGC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17909	0.0		0.0	False		,,,				2504	0.0				p.R274C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820T	6						.	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	102.0	89.0	93.0		820	5.9	1.0	6	dbSNP_134	93	0,8600		0,0,4300	no	missense	TBX18	NM_001080508.1	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	274/608	85457757	2,13004	2203	4300	6503	85514476	SO:0001583	missense	9096	exon5			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.820C>T	6.37:g.85457757G>A	ENSP00000358677:p.Arg274Cys	Somatic		Capture	Illumina HiSeq	Phase_I	85514476	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.6	4.023467	0.75390	4.54E-4	0.0	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.81330	-1.48	5.86	5.86	0.93980	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.962;0.997	D	0.91274	0.5046	10	0.87932	D	0	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	190;274	Q8IW86;O95935	.;TBX18_HUMAN	C	189;274	ENSP00000358677:R274C	ENSP00000358677:R274C	R	-	1	0	TBX18	85514476	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	6.436000	0.73417	2.781000	0.95711	0.650000	0.86243	CGT		0.458	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
HTR1E	3354	broad.mit.edu	37	6	87725747	87725747	+	Missense_Mutation	SNP	C	C	A	rs377555508		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:87725747C>A	ENST00000305344.5	+	2	1398	c.695C>A	c.(694-696)tCt>tAt	p.S232Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	232					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S232Y(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGCCAGAATTCTTTTGCAAGT	0.458																																					p.S232Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695A	6						.	C	TYR/SER	0,4406		0,0,2203	125.0	128.0	127.0		695	4.4	1.0	6		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	HTR1E	NM_000865.2	144	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	232/366	87725747	1,13005	2203	4300	6503	87782466	SO:0001583	missense	3354	exon2				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.695C>A	6.37:g.87725747C>A	ENSP00000307766:p.Ser232Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	87782466	NM_000865	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542086	0.45280	0.0	1.16E-4	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.68624	-0.34;-0.34	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	T	0.66446	0.2790	L	0.31157	0.91	0.54753	D	0.99998	D	0.63046	0.992	D	0.71184	0.972	T	0.71467	-0.4584	10	0.54805	T	0.06	.	16.925	0.86174	0.0:1.0:0.0:0.0	.	232	P28566	5HT1E_HUMAN	Y	232	ENSP00000307766:S232Y;ENSP00000358597:S232Y	ENSP00000307766:S232Y	S	+	2	0	HTR1E	87782466	0.989000	0.36119	0.985000	0.45067	0.496000	0.33645	5.270000	0.65547	2.004000	0.58718	0.205000	0.17691	TCT		0.458	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
PM20D2	135293	broad.mit.edu	37	6	89871857	89871857	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:89871857C>T	ENST00000275072.4	+	7	1281	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	396						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.R396W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CTACACTCTGCGGACGGCCAA	0.403																																					p.R396W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1186T	6						.						86.0	86.0	86.0					6																	89871857		2203	4300	6503	89928576	SO:0001583	missense	135293	exon7			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.1186C>T	6.37:g.89871857C>T	ENSP00000275072:p.Arg396Trp	Somatic		Capture	Illumina HiSeq	Phase_I	89928576	NM_001010853	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991941	0.74703	.	.	ENSG00000146281	ENST00000275072	T	0.44083	0.93	5.94	4.14	0.48551	.	0.048787	0.85682	D	0.000000	T	0.47967	0.1474	M	0.78637	2.42	0.50813	D	0.999899	D	0.76494	0.999	D	0.63877	0.919	T	0.49504	-0.8933	10	0.37606	T	0.19	-3.9737	10.2068	0.43118	0.1436:0.7865:0.0:0.0699	.	396	Q8IYS1	P20D2_HUMAN	W	396	ENSP00000275072:R396W	ENSP00000275072:R396W	R	+	1	2	PM20D2	89928576	1.000000	0.71417	0.924000	0.36721	0.972000	0.66771	3.415000	0.52700	0.814000	0.34374	0.561000	0.74099	CGG		0.403	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853	
MDN1	23195	broad.mit.edu	37	6	90394603	90394603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:90394603C>A	ENST00000369393.3	-	71	11936	c.11821G>T	c.(11821-11823)Gaa>Taa	p.E3941*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E3941*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3941					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E3941*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTTTAAGTTCTTTTTCTAGG	0.403																																					p.E3941X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G11821T	6						.						47.0	48.0	48.0					6																	90394603		2203	4300	6503	90451324	SO:0001587	stop_gained	23195	exon71			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11821G>T	6.37:g.90394603C>A	ENSP00000358400:p.Glu3941*	Somatic		Capture	Illumina HiSeq	Phase_I	90451324	NM_014611	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	54	22.218086	0.99946	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	3941	.	ENSP00000358400:E3941X	E	-	1	0	MDN1	90451324	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.849000	0.75414	2.783000	0.95769	0.655000	0.94253	GAA		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CASP8AP2	9994	broad.mit.edu	37	6	90576976	90576976	+	RNA	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:90576976C>A	ENST00000551025.1	+	0	5404									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGGTTCTGATCTTTTAGACAG	0.403																																					p.L1323I	Colon(187;1656 2025 17045 31481 39901)											.	.	0			c.C3967A	6						.						62.0	61.0	61.0					6																	90576976		1840	4087	5927	90633697			9994	exon8			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576976C>A		Somatic		Capture	Illumina HiSeq	Phase_I	90633697	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
MAP3K7	6885	broad.mit.edu	37	6	91226345	91226345	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:91226345G>A	ENST00000369329.3	-	17	1857	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R539C|MAP3K7_ENST00000369320.1_Missense_Mutation_p.R220C|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	566					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.R539C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGTACCAGGCGAGATGTATTT	0.373																																					p.R539C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1615T	6						.						150.0	137.0	141.0					6																	91226345		2203	4300	6503	91283066	SO:0001583	missense	6885	exon16			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1696C>T	6.37:g.91226345G>A	ENSP00000358335:p.Arg566Cys	Somatic		Capture	Illumina HiSeq	Phase_I	91283066	NM_003188	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411779	0.83340	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	T;T	0.79749	-1.3;-1.3	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.77557	0.796;0.99	D	0.86403	0.1743	10	0.62326	D	0.03	.	19.5538	0.95333	0.0:0.0:1.0:0.0	.	539;566	O43318-2;O43318	.;M3K7_HUMAN	C	539;566;220	ENSP00000358338:R539C;ENSP00000358335:R566C	ENSP00000358326:R220C	R	-	1	0	MAP3K7	91283066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.688000	0.91661	0.655000	0.94253	CGC		0.373	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
FUT9	10690	broad.mit.edu	37	6	96651770	96651770	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:96651770T>G	ENST00000302103.5	+	3	1065	c.739T>G	c.(739-741)Tca>Gca	p.S247A		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	247					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.S247A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTTTGAAAATTCAATCCACAA	0.358																																					p.S247A	Melanoma(98;1369 1476 6592 22940 26587)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T739G	6						.						39.0	38.0	38.0					6																	96651770		2203	4300	6503	96758491	SO:0001583	missense	10690	exon3			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.739T>G	6.37:g.96651770T>G	ENSP00000302599:p.Ser247Ala	Somatic		Capture	Illumina HiSeq	Phase_I	96758491	NM_006581	Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607794	0.66558	.	.	ENSG00000172461	ENST00000302103	T	0.34072	1.38	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	M	0.68952	2.095	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.45585	-0.9251	10	0.38643	T	0.18	-9.1513	14.6986	0.69139	0.0:0.0:0.0:1.0	.	247	Q9Y231	FUT9_HUMAN	A	247	ENSP00000302599:S247A	ENSP00000302599:S247A	S	+	1	0	FUT9	96758491	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.071000	0.62044	0.482000	0.46254	TCA		0.358	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581	
KLHL32	114792	broad.mit.edu	37	6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374H(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATGACCCCCGCAGTAATTCC	0.567																																					p.R374H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121A	6						.						59.0	56.0	57.0					6																	97562152		2203	4300	6503	97668873	SO:0001583	missense	114792	exon7			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1121G>A	6.37:g.97562152G>A	ENSP00000358265:p.Arg374His	Somatic		Capture	Illumina HiSeq	Phase_I	97668873	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279969	0.95489	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67865	-0.29;-0.29;-0.29	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;0.999	T	0.70920	-0.4741	10	0.34782	T	0.22	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	374;338;305	ENSP00000358265:R374H;ENSP00000440382:R338H;ENSP00000441527:R305H	ENSP00000358265:R374H	R	+	2	0	KLHL32	97668873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.763000	0.94921	0.655000	0.94253	CGC		0.567	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
MMS22L	253714	broad.mit.edu	37	6	97702587	97702587	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:97702587T>G	ENST00000275053.4	-	10	1230	c.965A>C	c.(964-966)aAa>aCa	p.K322T	MMS22L_ENST00000369251.2_Missense_Mutation_p.K322T	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	322					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.K322T(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTAAGTAGTTTATTCAACCA	0.333																																					p.K322T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A965C	6						.						119.0	120.0	119.0					6																	97702587		2203	4300	6503	97809308	SO:0001583	missense	253714	exon10				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.965A>C	6.37:g.97702587T>G	ENSP00000275053:p.Lys322Thr	Somatic		Capture	Illumina HiSeq	Phase_I	97809308	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576728	0.65878	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	4.94	4.94	0.65067	.	0.221693	0.40640	N	0.001058	T	0.30230	0.0758	M	0.74258	2.255	0.38060	D	0.93605	P;P	0.42908	0.793;0.793	B;B	0.43916	0.436;0.414	T	0.25363	-1.0134	10	0.51188	T	0.08	-4.35	10.6081	0.45406	0.0:0.0:0.1603:0.8397	.	322;322	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	T	322;322;210;14	ENSP00000275053:K322T;ENSP00000358254:K322T;ENSP00000427288:K210T;ENSP00000421225:K14T	ENSP00000275053:K322T	K	-	2	0	MMS22L	97809308	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	2.921000	0.48852	1.854000	0.53819	0.455000	0.32223	AAA		0.333	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
FAM120B	84498	broad.mit.edu	37	6	170626850	170626850	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr6:170626850G>A	ENST00000476287.1	+	2	480	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Silent_p.E136E|FAM120B_ENST00000537664.1_Silent_p.E147E	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	124					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E124E(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CACACAAGGAGCAGCCAGGCA	0.463																																					p.E124E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	6						.						85.0	79.0	81.0					6																	170626850		2203	4300	6503	170468775	SO:0001819	synonymous_variant	84498	exon2			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.372G>A	6.37:g.170626850G>A		Somatic		Capture	Illumina HiSeq	Phase_I	170468775	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																				0.463	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
TFR2	7036	broad.mit.edu	37	7	100228531	100228531	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:100228531G>A	ENST00000462107.1	-	10	1538	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	TFR2_ENST00000223051.3_Silent_p.I417I|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Nonsense_Mutation_p.R332*			Q9UP52	TFR2_HUMAN	transferrin receptor 2	417					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.I417I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AGCGGCCTTCGATGCAGCCGA	0.597																																					p.I417I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251T	7						.						103.0	83.0	90.0					7																	100228531		2203	4300	6503	100066467	SO:0001819	synonymous_variant	7036	exon9			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1251C>T	7.37:g.100228531G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100066467	NM_003227	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336530	0.41398	.	.	ENSG00000106327	ENST00000431692	.	.	.	4.74	-6.32	0.01995	.	.	.	.	.	.	.	.	.	.	.	0.47407	A	0.999415	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6572	14.6982	0.69136	0.8026:0.0:0.1974:0.0	.	.	.	.	X	332	.	ENSP00000413905:R332X	R	-	1	2	TFR2	100066467	0.191000	0.23288	0.768000	0.31515	0.464000	0.32679	-0.769000	0.04710	-1.402000	0.02056	-1.036000	0.02392	CGA		0.597	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227	
ACTL6B	51412	broad.mit.edu	37	7	100252714	100252714	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:100252714G>A	ENST00000160382.5	-	4	403	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	99					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.I99I(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTGATCCAGGATGGCTCGGA	0.597																																					p.I99I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	7						.						211.0	149.0	170.0					7																	100252714		2203	4300	6503	100090650	SO:0001819	synonymous_variant	51412	exon4			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.297C>T	7.37:g.100252714G>A		Somatic		Capture	Illumina HiSeq	Phase_I	100090650	NM_016188	A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	CCDS5702.1																																																																																				0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188	
MUC17	140453	broad.mit.edu	37	7	100681656	100681656	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:100681656C>A	ENST00000306151.4	+	3	7023	c.6959C>A	c.(6958-6960)cCt>cAt	p.P2320H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2320	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2320H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCACCTCCTCCCACTGCT	0.498																																					p.P2320H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6959A	7						.						248.0	247.0	247.0					7																	100681656		2203	4300	6503	100468376	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6959C>A	7.37:g.100681656C>A	ENSP00000302716:p.Pro2320His	Somatic		Capture	Illumina HiSeq	Phase_I	100468376	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.755	-0.259173	0.05791	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	1.54	1.54	0.23209	.	.	.	.	.	T	0.02494	0.0076	L	0.27053	0.805	0.09310	N	1	P	0.40144	0.704	B	0.28385	0.089	T	0.47433	-0.9118	9	0.45353	T	0.12	.	8.7509	0.34616	0.0:1.0:0.0:0.0	.	2320	Q685J3	MUC17_HUMAN	H	2320	ENSP00000302716:P2320H	ENSP00000302716:P2320H	P	+	2	0	MUC17	100468376	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.119000	0.15626	0.860000	0.35481	0.134000	0.15878	CCT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
FBXL13	222235	broad.mit.edu	37	7	102553635	102553635	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:102553635A>G	ENST00000313221.4	-	11	1332	c.906T>C	c.(904-906)agT>agC	p.S302S	FBXL13_ENST00000436908.1_Silent_p.S302S|LRRC17_ENST00000249377.4_Intron|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000379308.3_Silent_p.S302S|FBXL13_ENST00000456695.1_Silent_p.S302S|FBXL13_ENST00000379305.3_Silent_p.S302S|FBXL13_ENST00000455112.2_Silent_p.S302S|FBXL13_ENST00000393772.2_Silent_p.S302S|FBXL13_ENST00000379306.3_Silent_p.S302S	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	302								p.S302S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AATAAGCCAAACTAAGATTCT	0.438																																					p.S302S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T906C	7						.						128.0	119.0	122.0					7																	102553635		2203	4300	6503	102340871	SO:0001819	synonymous_variant	222235	exon11			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.906T>C	7.37:g.102553635A>G		Somatic		Capture	Illumina HiSeq	Phase_I	102340871	NM_001111038	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	CCDS5726.1																																																																																				0.438	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
LRRC17	10234	broad.mit.edu	37	7	102574970	102574970	+	Missense_Mutation	SNP	C	C	T	rs149650054		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:102574970C>T	ENST00000339431.4	+	2	905	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.R204W|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379306.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	204	LRRCT 1.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.R204W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TAAAAAACTGCGGCAGATAAA	0.433																																					p.R204W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	7						.						37.0	41.0	39.0					7																	102574970		2192	4298	6490	102362206	SO:0001583	missense	10234	exon2			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.610C>T	7.37:g.102574970C>T	ENSP00000344242:p.Arg204Trp	Somatic		Capture	Illumina HiSeq	Phase_I	102362206	NM_005824	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263325	0.59431	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.62364	0.27;0.03	5.28	3.14	0.36123	Cysteine-rich flanking region, C-terminal (1);	0.315689	0.21448	N	0.074368	T	0.64670	0.2619	L	0.58354	1.805	0.34680	D	0.724567	D;D	0.60160	0.978;0.987	B;P	0.50049	0.306;0.629	T	0.76721	-0.2855	10	0.66056	D	0.02	-2.2706	12.0191	0.53333	0.6234:0.3766:0.0:0.0	.	204;204	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	W	204	ENSP00000344242:R204W;ENSP00000249377:R204W	ENSP00000249377:R204W	R	+	1	2	LRRC17	102362206	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.582000	0.60957	1.317000	0.45149	0.563000	0.77884	CGG		0.433	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
NAPEPLD	222236	broad.mit.edu	37	7	102769156	102769156	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:102769156T>C	ENST00000417955.1	-	2	222	c.68A>G	c.(67-69)aAa>aGa	p.K23R	NAPEPLD_ENST00000341533.4_Missense_Mutation_p.K23R|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.K23R|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.K23R|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.K96R			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	23					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.K23R(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATTTTGACGTTTTCTTACTGC	0.378																																					p.K23R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A68G	7						.						107.0	104.0	105.0					7																	102769156		2203	4300	6503	102556392	SO:0001583	missense	222236	exon2			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.68A>G	7.37:g.102769156T>C	ENSP00000407112:p.Lys23Arg	Somatic		Capture	Illumina HiSeq	Phase_I	102556392	NM_198990	Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998761	0.54147	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523;ENST00000418294	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.16	4.97	0.65823	.	0.152232	0.64402	D	0.000011	T	0.74596	0.3737	L	0.51422	1.61	0.39092	D	0.961125	B;P;B	0.38078	0.049;0.617;0.049	B;B;B	0.40477	0.018;0.33;0.018	T	0.72808	-0.4181	10	0.26408	T	0.33	-18.7569	8.7671	0.34708	0.0:0.0657:0.1292:0.805	.	96;23;23	B4E3B0;C9JGB1;Q6IQ20	.;.;NAPEP_HUMAN	R	23;23;23;23;96;23	ENSP00000340093:K23R;ENSP00000407112:K23R;ENSP00000419188:K23R;ENSP00000392775:K23R;ENSP00000414364:K96R;ENSP00000404391:K23R	ENSP00000340093:K23R	K	-	2	0	NAPEPLD	102556392	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.715000	0.47210	2.367000	0.80283	0.528000	0.53228	AAA		0.378	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990	
SLC26A5	375611	broad.mit.edu	37	7	103030953	103030953	+	Splice_Site	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:103030953G>T	ENST00000306312.3	-	12	1495	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	SLC26A5_ENST00000393735.2_Splice_Site_p.L412I|SLC26A5_ENST00000393727.1_Splice_Site_p.L412I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Splice_Site_p.L412I|SLC26A5_ENST00000393730.1_Splice_Site_p.L412I|SLC26A5_ENST00000393729.1_Splice_Site_p.L375I|SLC26A5_ENST00000432958.2_Splice_Site_p.L412I|SLC26A5_ENST00000339444.6_Splice_Site_p.L412I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	412					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.L412I(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACCTGCAAGCTGAATGAGA	0.418																																					p.L412I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1234A	7						.						100.0	101.0	101.0					7																	103030953		2203	4300	6503	102818189	SO:0001630	splice_region_variant	375611	exon12			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1234-1C>A	7.37:g.103030953G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102818189	NM_206884	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500209	0.26861	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83	4.92	4.92	0.64577	Sulphate transporter (1);	0.053756	0.64402	D	0.000001	D	0.87140	0.6103	N	0.08118	0	0.80722	D	1	B;B;B;B	0.29162	0.007;0.113;0.235;0.093	B;B;B;B	0.25614	0.027;0.062;0.037;0.037	D	0.84462	0.0594	10	0.15066	T	0.55	.	11.6533	0.51301	0.0:0.0:0.7029:0.2971	.	412;412;412;412	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	I	412;412;412;412;412;375;412;412	ENSP00000342396:L412I;ENSP00000377336:L412I;ENSP00000304783:L412I;ENSP00000377331:L412I;ENSP00000389733:L412I;ENSP00000377330:L375I;ENSP00000377328:L412I;ENSP00000377324:L412I	ENSP00000304783:L412I	L	-	1	0	SLC26A5	102818189	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.922000	0.56462	2.427000	0.82271	0.563000	0.77884	CTT		0.418	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	Missense_Mutation
RELN	5649	broad.mit.edu	37	7	103194254	103194254	+	Missense_Mutation	SNP	A	A	C	rs149837553	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:103194254A>C	ENST00000428762.1	-	39	5981	c.5822T>G	c.(5821-5823)gTt>gGt	p.V1941G	RELN_ENST00000424685.2_Missense_Mutation_p.V1941G|RELN_ENST00000343529.5_Missense_Mutation_p.V1941G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1941					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V1941G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGTCATCAACAATCCAGAT	0.348																																					p.V1941G	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5822G	7						.						138.0	132.0	134.0					7																	103194254		2203	4300	6503	102981490	SO:0001583	missense	5649	exon39				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5822T>G	7.37:g.103194254A>C	ENSP00000392423:p.Val1941Gly	Somatic		Capture	Illumina HiSeq	Phase_I	102981490	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436866	0.83885	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28454	1.61;1.61;1.61	6.07	6.07	0.98685	Neuraminidase (1);	0.566298	0.20167	N	0.097824	T	0.38295	0.1035	L	0.38175	1.15	0.50632	D	0.999882	P;B	0.43633	0.813;0.238	P;B	0.49192	0.602;0.124	T	0.13953	-1.0490	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1941;1941	P78509-2;P78509	.;RELN_HUMAN	G	1941	ENSP00000392423:V1941G;ENSP00000345694:V1941G;ENSP00000388446:V1941G	ENSP00000345694:V1941G	V	-	2	0	RELN	102981490	0.994000	0.37717	0.954000	0.39281	0.969000	0.65631	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	GTT		0.348	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103205875	103205875	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:103205875G>T	ENST00000428762.1	-	34	5219	c.5060C>A	c.(5059-5061)tCt>tAt	p.S1687Y	RELN_ENST00000424685.2_Missense_Mutation_p.S1687Y|RELN_ENST00000343529.5_Missense_Mutation_p.S1687Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1687					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S1687Y(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGTTCAGAGAATACTGGAG	0.468																																					p.S1687Y	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5060A	7						.						118.0	103.0	108.0					7																	103205875		2203	4300	6503	102993111	SO:0001583	missense	5649	exon34				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5060C>A	7.37:g.103205875G>T	ENSP00000392423:p.Ser1687Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	102993111	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859738	0.91433	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.988	T	0.76424	-0.2964	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1687;1687	P78509-2;P78509	.;RELN_HUMAN	Y	1687	ENSP00000392423:S1687Y;ENSP00000345694:S1687Y;ENSP00000388446:S1687Y	ENSP00000345694:S1687Y	S	-	2	0	RELN	102993111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.941000	0.99782	0.655000	0.94253	TCT		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103338353	103338353	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:103338353G>T	ENST00000428762.1	-	10	1249	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I	RELN_ENST00000424685.2_Missense_Mutation_p.L364I|RELN_ENST00000343529.5_Missense_Mutation_p.L364I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	364					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGGTCGAGACTATCTTCT	0.428																																					p.L364I	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1090A	7						.						146.0	135.0	139.0					7																	103338353		2203	4300	6503	103125589	SO:0001583	missense	5649	exon10				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1090C>A	7.37:g.103338353G>T	ENSP00000392423:p.Leu364Ile	Somatic		Capture	Illumina HiSeq	Phase_I	103125589	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	g	16.08	3.022264	0.54683	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28666	1.6;1.6;1.6	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000001	T	0.55000	0.1893	L	0.57536	1.79	0.47511	D	0.999447	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.967	T	0.42032	-0.9475	10	0.44086	T	0.13	.	20.6289	0.99525	0.0:0.0:1.0:0.0	.	364;364	P78509-2;P78509	.;RELN_HUMAN	I	364	ENSP00000392423:L364I;ENSP00000345694:L364I;ENSP00000388446:L364I	ENSP00000345694:L364I	L	-	1	0	RELN	103125589	1.000000	0.71417	0.387000	0.26183	0.769000	0.43574	4.546000	0.60705	2.886000	0.99085	0.645000	0.84053	CTC		0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
KMT2E	55904	broad.mit.edu	37	7	104704024	104704024	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:104704024G>T	ENST00000311117.3	+	5	958	c.413G>T	c.(412-414)tGc>tTc	p.C138F	KMT2E_ENST00000476671.1_Missense_Mutation_p.C138F|KMT2E_ENST00000334877.4_Missense_Mutation_p.C138F|KMT2E_ENST00000257745.4_Missense_Mutation_p.C138F|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	138					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C138F(1)									TGTGACAAATGCAGGTAAAAT	0.333																																					p.C138F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413T	7						.						87.0	75.0	79.0					7																	104704024		2203	4300	6503	104491260	SO:0001583	missense	55904	exon5			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.413G>T	7.37:g.104704024G>T	ENSP00000312379:p.Cys138Phe	Somatic		Capture	Illumina HiSeq	Phase_I	104491260	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149883	0.78001	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000537308	D;D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87;-5.87	5.24	5.24	0.73138	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99042	4.41	0.80722	D	1	D;B	0.76494	0.999;0.402	D;B	0.87578	0.998;0.106	D	0.96801	0.9589	10	0.87932	D	0	.	19.1936	0.93677	0.0:0.0:1.0:0.0	.	138;138	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	F	138;138;138;138;138;138;138;72	ENSP00000312379:C138F;ENSP00000335599:C138F;ENSP00000257745:C138F;ENSP00000420415:C138F;ENSP00000417888:C138F	ENSP00000257745:C138F	C	+	2	0	MLL5	104491260	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.753000	0.98904	2.616000	0.88540	0.585000	0.79938	TGC		0.333	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
PUS7	54517	broad.mit.edu	37	7	105103129	105103129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:105103129G>A	ENST00000356362.2	-	14	1910	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.R566*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	566	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.R566*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAATAATCTCGAATTTTGTGT	0.363																																					p.R566X	Colon(138;2387 3051 17860)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1696T	7						.						164.0	150.0	155.0					7																	105103129		2203	4300	6503	104890365	SO:0001587	stop_gained	54517	exon14			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1696C>T	7.37:g.105103129G>A	ENSP00000348722:p.Arg566*	Somatic		Capture	Illumina HiSeq	Phase_I	104890365	NM_019042	Q75MG4|Q9NX19	Nonsense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	40	8.145749	0.98675	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	.	.	.	5.62	4.72	0.59763	.	0.138786	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-11.5408	12.5925	0.56451	0.0:0.0:0.5543:0.4457	.	.	.	.	X	566	.	ENSP00000348722:R566X	R	-	1	2	PUS7	104890365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.613000	0.46351	1.306000	0.44926	0.655000	0.94253	CGA		0.363	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	
PIK3CG	5294	broad.mit.edu	37	7	106508718	106508718	+	Missense_Mutation	SNP	G	G	A	rs149432307		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:106508718G>A	ENST00000359195.3	+	2	1022	c.712G>A	c.(712-714)Gac>Aac	p.D238N	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D238N|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D238N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	238	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D238N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGTCTCACCCGACGACACCCC	0.532																																					p.D238N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	7						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	92.0	97.0	95.0		712	5.5	0.1	7	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3CG	NM_002649.2	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	238/1103	106508718	2,13004	2203	4300	6503	106295954	SO:0001583	missense	5294	exon2				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.712G>A	7.37:g.106508718G>A	ENSP00000352121:p.Asp238Asn	Somatic		Capture	Illumina HiSeq	Phase_I	106295954	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	7.779	0.709000	0.15239	2.27E-4	1.16E-4	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70164	-0.46;-0.46;-0.46	5.5	5.5	0.81552	Phosphoinositide 3-kinase, ras-binding (2);	0.254988	0.44688	D	0.000426	T	0.61627	0.2362	L	0.50333	1.59	0.48452	D	0.99965	B	0.18610	0.029	B	0.15870	0.014	T	0.57808	-0.7747	10	0.11485	T	0.65	-20.1749	19.7537	0.96281	0.0:0.0:1.0:0.0	.	238	P48736	PK3CG_HUMAN	N	238	ENSP00000392258:D238N;ENSP00000419260:D238N;ENSP00000352121:D238N	ENSP00000352121:D238N	D	+	1	0	PIK3CG	106295954	1.000000	0.71417	0.148000	0.22405	0.186000	0.23388	3.939000	0.56591	2.736000	0.93811	0.591000	0.81541	GAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
BCAP29	55973	broad.mit.edu	37	7	107236335	107236335	+	Missense_Mutation	SNP	T	T	G	rs372162991		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:107236335T>G	ENST00000005259.4	+	5	707	c.368T>G	c.(367-369)cTt>cGt	p.L123R	BCAP29_ENST00000379119.2_Missense_Mutation_p.L123R|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Missense_Mutation_p.L29R|BCAP29_ENST00000379117.2_Missense_Mutation_p.L123R|BCAP29_ENST00000465919.1_Missense_Mutation_p.L29R|BCAP29_ENST00000445771.2_Missense_Mutation_p.L123R	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	123					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L123R(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CTGGTTACGCTTATTACTCAA	0.333																																					p.L123R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T368G	7						.						112.0	108.0	110.0					7																	107236335		2202	4300	6502	107023571	SO:0001583	missense	55973	exon4				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.368T>G	7.37:g.107236335T>G	ENSP00000005259:p.Leu123Arg	Somatic		Capture	Illumina HiSeq	Phase_I	107023571	NM_001008405	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328140	0.81690	.	.	ENSG00000075790	ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.	.	.	5.45	5.45	0.79879	.	0.061270	0.64402	D	0.000003	D	0.84678	0.5525	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87978	0.2741	9	0.87932	D	0	-13.4806	14.7866	0.69808	0.0:0.0:0.0:1.0	.	123;123;123	G5E9L4;C9JTE9;Q9UHQ4	.;.;BAP29_HUMAN	R	123;29;123;123;123;123;123;123;80;29	.	ENSP00000005259:L123R	L	+	2	0	BCAP29	107023571	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	6.568000	0.73987	2.197000	0.70478	0.528000	0.53228	CTT		0.333	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844	
LAMB4	22798	broad.mit.edu	37	7	107717449	107717449	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:107717449G>T	ENST00000388781.3	-	17	2147	c.2064C>A	c.(2062-2064)gtC>gtA	p.V688V	LAMB4_ENST00000388780.3_Silent_p.V688V|LAMB4_ENST00000418464.1_Silent_p.V688V|LAMB4_ENST00000414450.2_Silent_p.V688V|LAMB4_ENST00000205386.4_Silent_p.V688V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	688	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.V688V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAGAAAAATAGACATCTATGG	0.413																																					p.V688V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2064A	7						.						110.0	113.0	112.0					7																	107717449		2203	4300	6503	107504685	SO:0001819	synonymous_variant	22798	exon17			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2064C>A	7.37:g.107717449G>T		Somatic		Capture	Illumina HiSeq	Phase_I	107504685	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																				0.413	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
PNPLA8	50640	broad.mit.edu	37	7	108155121	108155121	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:108155121G>T	ENST00000422087.1	-	4	1221	c.815C>A	c.(814-816)cCt>cAt	p.P272H	PNPLA8_ENST00000453144.1_Missense_Mutation_p.P172H|PNPLA8_ENST00000426128.2_Missense_Mutation_p.P272H|PNPLA8_ENST00000436062.1_Missense_Mutation_p.P272H|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Missense_Mutation_p.P272H|PNPLA8_ENST00000257694.8_Missense_Mutation_p.P272H	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	272					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.P272H(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TATCGCAGAAGGACTTGTAGG	0.428																																					p.P272H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C815A	7						.						99.0	94.0	96.0					7																	108155121		2203	4300	6503	107942357	SO:0001583	missense	50640	exon4			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.815C>A	7.37:g.108155121G>T	ENSP00000410804:p.Pro272His	Somatic		Capture	Illumina HiSeq	Phase_I	107942357	NM_015723	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204898	0.06180	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.97959	-3.45;-4.63;-3.45;-4.63;-4.62;-4.63;-4.62	5.48	0.0355	0.14188	.	0.889113	0.10074	N	0.719294	D	0.94036	0.8089	L	0.44542	1.39	0.09310	N	1	B	0.17852	0.024	B	0.12837	0.008	D	0.87449	0.2400	10	0.56958	D	0.05	.	2.8868	0.05663	0.0847:0.2805:0.3171:0.3177	.	272	Q9NP80	PLPL8_HUMAN	H	272;272;272;272;172;272;172	ENSP00000394988:P272H;ENSP00000257694:P272H;ENSP00000373380:P272H;ENSP00000410804:P272H;ENSP00000387789:P172H;ENSP00000406779:P272H;ENSP00000402274:P172H	ENSP00000257694:P272H	P	-	2	0	PNPLA8	107942357	0.004000	0.15560	0.000000	0.03702	0.023000	0.10783	1.482000	0.35486	0.315000	0.23110	0.591000	0.81541	CCT		0.428	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
THAP5	168451	broad.mit.edu	37	7	108204963	108204963	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:108204963G>T	ENST00000415914.3	-	3	1013	c.860C>A	c.(859-861)tCt>tAt	p.S287Y	THAP5_ENST00000313516.5_Missense_Mutation_p.S245Y|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	287					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)	p.S125Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGATATAAAAGAATTAACTGA	0.328																																					p.S287Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C860A	7						.						88.0	93.0	91.0					7																	108204963		2203	4300	6503	107992199	SO:0001583	missense	168451	exon3			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.860C>A	7.37:g.108204963G>T	ENSP00000400500:p.Ser287Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	107992199	NM_001130475		Missense_Mutation	SNP	ENST00000415914.3	37	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855547	0.51376	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97811	-4.55;-3.09	4.6	2.73	0.32206	.	0.560318	0.13536	U	0.380562	D	0.96984	0.9015	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93623	0.6949	9	.	.	.	.	7.6582	0.28388	0.0898:0.1642:0.746:0.0	.	287	Q7Z6K1	THAP5_HUMAN	Y	287;245	ENSP00000400500:S287Y;ENSP00000322440:S245Y	.	S	-	2	0	THAP5	107992199	1.000000	0.71417	0.892000	0.35008	0.943000	0.58893	3.391000	0.52530	0.457000	0.26962	0.650000	0.86243	TCT		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529	
DOCK4	9732	broad.mit.edu	37	7	111584926	111584926	+	Splice_Site	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:111584926C>A	ENST00000437633.1	-	10	1040	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Splice_Site_p.D262Y	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	262					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.D250Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGCCCAAATCCTACAAACAA	0.403																																					p.D262Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784T	7						.						106.0	101.0	103.0					7																	111584926		1895	4107	6002	111372162	SO:0001630	splice_region_variant	9732	exon10				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.784-1G>T	7.37:g.111584926C>A		Somatic		Capture	Illumina HiSeq	Phase_I	111372162	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.686288|4.686288	0.88639|0.88639	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.11604|.	2.76;2.76|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85234|0.85234	0.5650|0.5650	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.996;0.996;0.996|.	D|D	0.86303|0.86303	0.1681|0.1681	10|5	0.87932|.	D|.	0|.	.|.	20.2406|20.2406	0.98372|0.98372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	262;262;262|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	Y|C	250;262;262;250;261|249	ENSP00000410746:D262Y;ENSP00000404179:D262Y|.	ENSP00000345432:D250Y|.	D|W	-|-	1|3	0|0	DOCK4|DOCK4	111372162|111372162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.730000|6.730000	0.74780|0.74780	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.403	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Missense_Mutation
TMEM168	64418	broad.mit.edu	37	7	112424781	112424781	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:112424781G>A	ENST00000312814.6	-	2	660	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	TMEM168_ENST00000454074.1_Missense_Mutation_p.R34W	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	34						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.R34W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAAGATACCGCACTGAAGAA	0.348																																					p.R34W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100T	7						.						49.0	47.0	48.0					7																	112424781		2203	4300	6503	112212017	SO:0001583	missense	64418	exon2				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.100C>T	7.37:g.112424781G>A	ENSP00000323068:p.Arg34Trp	Somatic		Capture	Illumina HiSeq	Phase_I	112212017	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.817945	0.50633	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	5.65	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77075	-0.2722	9	0.87932	D	0	-7.6998	14.5034	0.67737	0.0:0.0:0.4587:0.5413	.	34	Q9H0V1	TM168_HUMAN	W	34	.	ENSP00000323068:R34W	R	-	1	2	TMEM168	112212017	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.456000	0.60081	0.681000	0.31386	-0.284000	0.09977	CGG		0.348	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
PPP1R3A	5506	broad.mit.edu	37	7	113558353	113558353	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:113558353C>A	ENST00000284601.3	-	1	767	c.699G>T	c.(697-699)aaG>aaT	p.K233N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	233					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.K233N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGTTCTTTCTTTTGACAAA	0.338																																					p.K233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	7						.						108.0	111.0	110.0					7																	113558353		2201	4298	6499	113345589	SO:0001583	missense	5506	exon1			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.699G>T	7.37:g.113558353C>A	ENSP00000284601:p.Lys233Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113345589	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640947	0.47153	.	.	ENSG00000154415	ENST00000284601	T	0.19938	2.11	5.81	5.81	0.92471	.	0.162435	0.48286	D	0.000183	T	0.45155	0.1328	M	0.66506	2.035	0.48696	D	0.99969	D	0.89917	1.0	D	0.85130	0.997	T	0.31251	-0.9950	10	0.72032	D	0.01	-0.3805	14.2643	0.66107	0.0:0.9293:0.0:0.0707	.	233	Q16821	PPR3A_HUMAN	N	233	ENSP00000284601:K233N	ENSP00000284601:K233N	K	-	3	2	PPP1R3A	113345589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.131000	0.31406	2.746000	0.94184	0.591000	0.81541	AAG		0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
THSD7A	221981	broad.mit.edu	37	7	11676434	11676434	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:11676434G>A	ENST00000423059.4	-	2	596	c.345C>T	c.(343-345)tgC>tgT	p.C115C	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	115	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C115C(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTGCCAATCGCAAACTTTGA	0.483										HNSCC(18;0.044)																											p.C115C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C345T	7						.						68.0	68.0	68.0					7																	11676434		1968	4142	6110	11642959	SO:0001819	synonymous_variant	221981	exon2				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.345C>T	7.37:g.11676434G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11642959	NM_015204		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																				0.483	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
TFEC	22797	broad.mit.edu	37	7	115582009	115582009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:115582009C>A	ENST00000265440.7	-	7	781	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	TFEC_ENST00000320239.7_Nonsense_Mutation_p.E172*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.E291*|TFEC_ENST00000393485.1_Nonsense_Mutation_p.E172*|TFEC_ENST00000457268.1_Nonsense_Mutation_p.E134*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	201					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E201*(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTTCCAATTCTCGGGCTCTC	0.423																																					p.E172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G514T	7						.						205.0	197.0	200.0					7																	115582009		2203	4300	6503	115369245	SO:0001587	stop_gained	22797	exon6			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.601G>T	7.37:g.115582009C>A	ENSP00000265440:p.Glu201*	Somatic		Capture	Illumina HiSeq	Phase_I	115369245	NM_001018058	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Nonsense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435974	0.83885	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	.	.	.	5.57	5.57	0.84162	.	0.047237	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.9283	19.5508	0.95319	0.0:1.0:0.0:0.0	.	.	.	.	X	201;134;172;172;291	.	ENSP00000265440:E201X	E	-	1	0	TFEC	115369245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.788000	0.85771	2.617000	0.88574	0.655000	0.94253	GAA		0.423	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
ST7	7982	broad.mit.edu	37	7	116862027	116862027	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:116862027C>A	ENST00000393446.2	+	13	1690	c.1387C>A	c.(1387-1389)Ctc>Atc	p.L463I	ST7_ENST00000265437.5_Missense_Mutation_p.L517I|ST7_ENST00000393444.3_Missense_Mutation_p.L451I|ST7_ENST00000393449.1_Missense_Mutation_p.L512I|ST7_ENST00000422922.1_Missense_Mutation_p.L448I|ST7_ENST00000393447.4_Missense_Mutation_p.L474I|ST7_ENST00000323984.3_Missense_Mutation_p.L517I|ST7_ENST00000393443.1_Missense_Mutation_p.L439I|ST7_ENST00000393451.3_Missense_Mutation_p.L494I|ST7_ENST00000432298.1_Missense_Mutation_p.L471I			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.L517I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTTCTTTATTCTCTTTACTGC	0.473																																					p.L494I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1480A	7						.						132.0	132.0	132.0					7																	116862027		2203	4300	6503	116649263	SO:0001583	missense	7982	exon14			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1387C>A	7.37:g.116862027C>A	ENSP00000377092:p.Leu463Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116649263	NM_018412	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.112068	0.77210	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000432298;ENST00000422922;ENST00000393443;ENST00000393447;ENST00000393444	T;T;T;T;T;T;T;T;T;T	0.21361	2.1;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	M	0.66939	2.045	0.80722	D	1	B;D;P;P;D;B	0.63046	0.041;0.992;0.853;0.88;0.99;0.299	B;D;P;P;D;B	0.76071	0.1;0.987;0.533;0.781;0.979;0.158	T	0.24154	-1.0168	10	0.45353	T	0.12	-12.7648	19.8046	0.96525	0.0:1.0:0.0:0.0	.	474;494;439;471;494;517	B7Z4L1;B7Z573;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;ST7_HUMAN	I	463;517;494;517;512;471;448;439;474;451	ENSP00000377092:L463I;ENSP00000265437:L517I;ENSP00000377097:L494I;ENSP00000325673:L517I;ENSP00000377095:L512I;ENSP00000411118:L471I;ENSP00000414031:L448I;ENSP00000377089:L439I;ENSP00000377093:L474I;ENSP00000377090:L451I	ENSP00000265437:L517I	L	+	1	0	ST7	116649263	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.776000	0.85560	2.748000	0.94277	0.655000	0.94253	CTC		0.473	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908	
ASZ1	136991	broad.mit.edu	37	7	117007421	117007421	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:117007421T>G	ENST00000284629.2	-	12	1322	c.1260A>C	c.(1258-1260)aaA>aaC	p.K420N		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.K420N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GAATTAGGTCTTTTAGTTTGC	0.338																																					p.K420N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1260C	7						.						50.0	48.0	49.0					7																	117007421		2202	4298	6500	116794657	SO:0001583	missense	136991	exon12			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1260A>C	7.37:g.117007421T>G	ENSP00000284629:p.Lys420Asn	Somatic		Capture	Illumina HiSeq	Phase_I	116794657	NM_130768		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	T	6.938	0.542765	0.13250	.	.	ENSG00000154438	ENST00000284629	D	0.82344	-1.6	5.16	0.124	0.14714	.	0.297442	0.33534	N	0.004802	T	0.70343	0.3213	L	0.47716	1.5	0.34383	D	0.693278	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.60068	-0.7335	10	0.42905	T	0.14	0.0554	1.5005	0.02475	0.1576:0.3683:0.1624:0.3118	.	411;420	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	N	420	ENSP00000284629:K420N	ENSP00000284629:K420N	K	-	3	2	ASZ1	116794657	1.000000	0.71417	0.999000	0.59377	0.199000	0.23934	0.766000	0.26560	0.066000	0.16515	0.402000	0.26972	AAA		0.338	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
CFTR	1080	broad.mit.edu	37	7	117230420	117230420	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:117230420G>T	ENST00000003084.6	+	13	1825	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	CFTR_ENST00000454343.1_Missense_Mutation_p.D504Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	565	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.D565Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGTATACAAAGATGCTGATTT	0.294									Cystic Fibrosis																												p.D565Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693T	7						.						82.0	91.0	88.0					7																	117230420		2202	4291	6493	117017656	SO:0001583	missense	1080	exon13	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1693G>T	7.37:g.117230420G>T	ENSP00000003084:p.Asp565Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	117017656	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087183	0.76642	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91631	-2.88;-2.88;-2.88	4.83	4.83	0.62350	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97133	0.9819	10	0.87932	D	0	-17.5483	17.9064	0.88919	0.0:0.0:1.0:0.0	.	565	P13569	CFTR_HUMAN	Y	565;504;535	ENSP00000003084:D565Y;ENSP00000403677:D504Y;ENSP00000389119:D535Y	ENSP00000003084:D565Y	D	+	1	0	CFTR	117017656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.148000	0.94652	2.386000	0.81285	0.563000	0.77884	GAT		0.294	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
ANKRD7	56311	broad.mit.edu	37	7	117876155	117876155	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:117876155C>A	ENST00000265224.4	+	4	684	c.529C>A	c.(529-531)Ctt>Att	p.L177I	ANKRD7_ENST00000357099.4_Missense_Mutation_p.L197I|ANKRD7_ENST00000417525.1_Missense_Mutation_p.L124I|ANKRD7_ENST00000433239.1_Missense_Mutation_p.L124I|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	177					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.L197I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GGTAAAATTTCTTCTGGAGAA	0.289																																					p.L177I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529A	7						.						73.0	77.0	76.0					7																	117876155		1798	4076	5874	117663391	SO:0001583	missense	56311	exon4			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.529C>A	7.37:g.117876155C>A	ENSP00000265224:p.Leu177Ile	Somatic		Capture	Illumina HiSeq	Phase_I	117663391	NM_019644	B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007366	0.75046	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.77358	-0.16;-0.16;-1.09;-1.09	5.3	5.3	0.74995	Ankyrin repeat-containing domain (3);	0.000000	0.43110	D	0.000608	D	0.90181	0.6931	M	0.88450	2.955	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.91581	0.5279	10	0.72032	D	0.01	-11.1623	18.932	0.92570	0.0:1.0:0.0:0.0	.	177	Q92527	ANKR7_HUMAN	I	197;177;124;124	ENSP00000349612:L197I;ENSP00000265224:L177I;ENSP00000395595:L124I;ENSP00000388473:L124I	ENSP00000265224:L177I	L	+	1	0	ANKRD7	117663391	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.817000	0.55668	2.651000	0.90000	0.491000	0.48974	CTT		0.289	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
KCND2	3751	broad.mit.edu	37	7	119915224	119915224	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:119915224A>G	ENST00000331113.4	+	1	1503	c.538A>G	c.(538-540)Acc>Gcc	p.T180A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	180					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.T180A(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GAACCCCCACACCAGCACGAT	0.617																																					p.T180A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A538G	7						.						75.0	73.0	74.0					7																	119915224		2203	4300	6503	119702460	SO:0001583	missense	3751	exon1			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.538A>G	7.37:g.119915224A>G	ENSP00000333496:p.Thr180Ala	Somatic		Capture	Illumina HiSeq	Phase_I	119702460	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802620	0.50315	.	.	ENSG00000184408	ENST00000331113	D	0.97328	-4.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.79123	2.44	0.58432	D	0.999999	B	0.22211	0.066	B	0.22753	0.041	D	0.94660	0.7847	9	.	.	.	.	15.7621	0.78091	1.0:0.0:0.0:0.0	.	180	Q9NZV8	KCND2_HUMAN	A	180	ENSP00000333496:T180A	.	T	+	1	0	KCND2	119702460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.134000	0.65973	0.460000	0.39030	ACC		0.617	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
PTPRZ1	5803	broad.mit.edu	37	7	121652585	121652585	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:121652585C>A	ENST00000393386.2	+	12	3896	c.3485C>A	c.(3484-3486)tCt>tAt	p.S1162Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1162					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1162Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAATGTTATCTCCTTCAACT	0.433																																					p.S1162Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3485A	7						.						206.0	200.0	202.0					7																	121652585		2203	4300	6503	121439821	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3485C>A	7.37:g.121652585C>A	ENSP00000377047:p.Ser1162Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	121439821	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	3.826	-0.036777	0.07497	.	.	ENSG00000106278	ENST00000393386	T	0.46819	0.86	4.74	2.82	0.32997	.	0.769227	0.12026	N	0.506410	T	0.37544	0.1007	L	0.47716	1.5	0.80722	D	1	B	0.31054	0.306	B	0.31191	0.125	T	0.22417	-1.0217	10	0.54805	T	0.06	.	4.279	0.10824	0.3282:0.4949:0.0:0.1769	.	1162	P23471	PTPRZ_HUMAN	Y	1162	ENSP00000377047:S1162Y	ENSP00000377047:S1162Y	S	+	2	0	PTPRZ1	121439821	0.760000	0.28428	0.991000	0.47740	0.998000	0.95712	1.065000	0.30592	0.460000	0.27045	0.555000	0.69702	TCT		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
PTPRZ1	5803	broad.mit.edu	37	7	121653057	121653057	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:121653057T>G	ENST00000393386.2	+	12	4368	c.3957T>G	c.(3955-3957)atT>atG	p.I1319M	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1319					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I1319M(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTTATCAATTGATGAACCAT	0.368																																					p.I1319M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3957G	7						.						79.0	75.0	76.0					7																	121653057		2203	4300	6503	121440293	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3957T>G	7.37:g.121653057T>G	ENSP00000377047:p.Ile1319Met	Somatic		Capture	Illumina HiSeq	Phase_I	121440293	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863072	0.32884	.	.	ENSG00000106278	ENST00000393386	T	0.42900	0.96	5.67	-8.14	0.01069	.	1.384010	0.04452	N	0.372830	T	0.34106	0.0886	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.37596	-0.9699	10	0.59425	D	0.04	.	6.8311	0.23911	0.1033:0.4959:0.1064:0.2944	.	1319	P23471	PTPRZ_HUMAN	M	1319	ENSP00000377047:I1319M	ENSP00000377047:I1319M	I	+	3	3	PTPRZ1	121440293	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.409000	0.02483	-1.690000	0.01432	-0.388000	0.06559	ATT		0.368	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
AASS	10157	broad.mit.edu	37	7	121756951	121756951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:121756951C>A	ENST00000393376.1	-	6	843	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	AASS_ENST00000417368.2_Nonsense_Mutation_p.E250*|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	250	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.E250*(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGGAAACTTCTTTTAATTCA	0.313																																					p.E250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G748T	7						.						78.0	86.0	83.0					7																	121756951		2203	4300	6503	121544187	SO:0001587	stop_gained	10157	exon7			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.748G>T	7.37:g.121756951C>A	ENSP00000377040:p.Glu250*	Somatic		Capture	Illumina HiSeq	Phase_I	121544187	NM_005763	O95462	Nonsense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	37	6.362808	0.97507	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.61	5.61	0.85477	.	0.090966	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-29.0679	19.6351	0.95728	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000351834:E250X	E	-	1	0	AASS	121544187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.766000	0.62279	2.657000	0.90304	0.650000	0.86243	GAA		0.313	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
CADPS2	93664	broad.mit.edu	37	7	121960374	121960374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:121960374G>A	ENST00000449022.2	-	30	3755	c.3736C>T	c.(3736-3738)Cga>Tga	p.R1246*	CADPS2_ENST00000313070.7_Nonsense_Mutation_p.R1205*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.R1205*|CADPS2_ENST00000334010.7_Nonsense_Mutation_p.R1244*	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1246					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.R1243*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCCTGCAATCGAAAGTCCCTG	0.398																																					p.R1250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3748T	7						.						173.0	163.0	166.0					7																	121960374		1875	4099	5974	121747610	SO:0001587	stop_gained	93664	exon30				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3736C>T	7.37:g.121960374G>A	ENSP00000398481:p.Arg1246*	Somatic		Capture	Illumina HiSeq	Phase_I	121747610	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.067221|11.067221	0.99511|0.99511	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	.|.	.|.	.|.	5.63|5.63	4.69|4.69	0.59074|0.59074	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.68778	.|0.3038	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66500	.|-0.5908	.|4	0.07482|.	T|.	0.82|.	-10.5771|-10.5771	13.6755|13.6755	0.62451|0.62451	0.0:0.0:0.7329:0.2671|0.0:0.0:0.7329:0.2671	.|.	.|.	.|.	.|.	X|L	419;1205;1244;1251;1172;1205;1246|848	.|.	ENSP00000325581:R1205X|.	R|S	-|-	1|2	2|0	CADPS2|CADPS2	121747610|121747610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.407000|1.407000	0.34657|0.34657	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
CADPS2	93664	broad.mit.edu	37	7	122261549	122261549	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:122261549A>G	ENST00000449022.2	-	5	1109	c.1090T>C	c.(1090-1092)Tca>Cca	p.S364P	CADPS2_ENST00000313070.7_Missense_Mutation_p.S364P|CADPS2_ENST00000412584.2_Missense_Mutation_p.S364P|CADPS2_ENST00000334010.7_Missense_Mutation_p.S364P	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	364					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S364P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAGGTGAATGACAGTACCACG	0.368																																					p.S364P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1090C	7						.						110.0	107.0	108.0					7																	122261549		1896	4122	6018	122048785	SO:0001583	missense	93664	exon5				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1090T>C	7.37:g.122261549A>G	ENSP00000398481:p.Ser364Pro	Somatic		Capture	Illumina HiSeq	Phase_I	122048785	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.095418|4.095418	0.76870|0.76870	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75250|0.75250	0.3824|0.3824	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.973;0.998;0.997|.	P;D;D|.	0.75484|.	0.848;0.986;0.918|.	T|T	0.75496|0.75496	-0.3297|-0.3297	10|5	0.87932|.	D|.	0|.	-10.3229|-10.3229	16.1464|16.1464	0.81575|0.81575	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	364;364;364|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	P|A	364;364;364;331;364;364|12	ENSP00000325581:S364P;ENSP00000333940:S364P;ENSP00000400401:S364P;ENSP00000398481:S364P|.	ENSP00000325581:S364P|.	S|V	-|-	1|2	0|0	CADPS2|CADPS2	122048785|122048785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.068000|5.068000	0.64364|0.64364	2.220000|2.220000	0.72140|0.72140	0.383000|0.383000	0.25322|0.25322	TCA|GTC		0.368	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
SLC13A1	6561	broad.mit.edu	37	7	122755591	122755591	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:122755591C>T	ENST00000194130.2	-	15	1808	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	590					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.S590N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGTCTCATTACTCATAGCAGG	0.398																																					p.S590N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1769A	7						.						161.0	131.0	141.0					7																	122755591		2203	4300	6503	122542827	SO:0001583	missense	6561	exon15				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1769G>A	7.37:g.122755591C>T	ENSP00000194130:p.Ser590Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122542827	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435431	0.25813	.	.	ENSG00000081800	ENST00000194130	T	0.65916	-0.18	5.29	-10.6	0.00265	.	1.419640	0.04037	N	0.302549	T	0.34337	0.0894	N	0.16790	0.44	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.17561	-1.0365	10	0.07325	T	0.83	-7.6956	7.6963	0.28596	0.2975:0.1216:0.5157:0.0652	.	590;590	A4D0X1;Q9BZW2	.;S13A1_HUMAN	N	590	ENSP00000194130:S590N	ENSP00000194130:S590N	S	-	2	0	SLC13A1	122542827	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-2.665000	0.00848	-1.861000	0.01153	-0.165000	0.13383	AGT		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
SLC13A1	6561	broad.mit.edu	37	7	122769487	122769487	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:122769487T>G	ENST00000194130.2	-	9	1020	c.981A>C	c.(979-981)aaA>aaC	p.K327N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	327					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.K327N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGCACAAGCTTTTTGTTGGA	0.398																																					p.K327N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A981C	7						.						296.0	244.0	262.0					7																	122769487		2203	4300	6503	122556723	SO:0001583	missense	6561	exon9				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.981A>C	7.37:g.122769487T>G	ENSP00000194130:p.Lys327Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122556723	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.343169	0.61073	.	.	ENSG00000081800	ENST00000194130	T	0.68181	-0.31	5.69	2.04	0.26737	.	0.258329	0.43747	D	0.000536	T	0.67002	0.2847	L	0.60845	1.875	0.80722	D	1	P;P	0.42161	0.772;0.772	P;P	0.49528	0.614;0.614	T	0.61019	-0.7147	10	0.38643	T	0.18	.	8.7416	0.34560	0.0:0.3099:0.0:0.6901	.	327;327	A4D0X1;Q9BZW2	.;S13A1_HUMAN	N	327	ENSP00000194130:K327N	ENSP00000194130:K327N	K	-	3	2	SLC13A1	122556723	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	0.725000	0.25970	0.114000	0.18032	0.379000	0.24179	AAA		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
WASL	8976	broad.mit.edu	37	7	123336678	123336678	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:123336678T>G	ENST00000223023.4	-	6	916	c.584A>C	c.(583-585)aAg>aCg	p.K195T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	195					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.K195T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAATCTCTTCTTTTTAGCTTT	0.328																																					p.K195T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584C	7						.						166.0	152.0	157.0					7																	123336678		2203	4300	6503	123123914	SO:0001583	missense	8976	exon6			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.584A>C	7.37:g.123336678T>G	ENSP00000223023:p.Lys195Thr	Somatic		Capture	Illumina HiSeq	Phase_I	123123914	NM_003941	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219899	0.79464	.	.	ENSG00000106299	ENST00000223023	D	0.99801	-6.81	5.97	4.83	0.62350	.	0.046855	0.85682	D	0.000000	D	0.99115	0.9695	M	0.69358	2.11	0.58432	D	0.999999	P	0.44627	0.839	B	0.39771	0.309	D	0.97807	1.0248	10	0.59425	D	0.04	-10.1634	11.9834	0.53133	0.0:0.0675:0.0:0.9324	.	195	O00401	WASL_HUMAN	T	195	ENSP00000223023:K195T	ENSP00000223023:K195T	K	-	2	0	WASL	123123914	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.099000	0.64554	1.083000	0.41159	0.528000	0.53228	AAG		0.328	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
GPR37	2861	broad.mit.edu	37	7	124386951	124386951	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:124386951C>A	ENST00000303921.2	-	2	2120	c.1470G>T	c.(1468-1470)atG>atT	p.M490I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	490					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.M490I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTACAGTTCATCTGACTCT	0.443																																					p.M490I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1470T	7						.						105.0	101.0	102.0					7																	124386951		2203	4300	6503	124174187	SO:0001583	missense	2861	exon2				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1470G>T	7.37:g.124386951C>A	ENSP00000306449:p.Met490Ile	Somatic		Capture	Illumina HiSeq	Phase_I	124174187	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985565	0.74589	.	.	ENSG00000170775	ENST00000303921	T	0.35789	1.29	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.42245	1.32	0.58432	D	0.999998	P	0.46064	0.872	P	0.48873	0.593	T	0.06991	-1.0796	10	0.31617	T	0.26	-31.374	18.635	0.91374	0.0:1.0:0.0:0.0	.	490	O15354	GPR37_HUMAN	I	490	ENSP00000306449:M490I	ENSP00000306449:M490I	M	-	3	0	GPR37	124174187	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	ATG		0.443	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
POT1	25913	broad.mit.edu	37	7	124465348	124465348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:124465348C>A	ENST00000357628.3	-	18	2348	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	POT1_ENST00000393329.1_Missense_Mutation_p.D453Y	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	584					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.D584Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATGATCATATCCACACTTTTC	0.333																																					p.D453Y	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1357T	7						.						72.0	72.0	72.0					7																	124465348		2203	4300	6503	124252584	SO:0001583	missense	25913	exon17			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1750G>T	7.37:g.124465348C>A	ENSP00000350249:p.Asp584Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	124252584	NM_001042594	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.304|8.304	0.820577|0.820577	0.16678|0.16678	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.44482|.	0.92;0.92|.	5.33|5.33	4.45|4.45	0.53987|0.53987	.|.	0.813059|.	0.11609|.	N|.	0.546951|.	T|T	0.38506|0.38506	0.1043|0.1043	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999997|0.999997	B|.	0.29805|.	0.257|.	B|.	0.24541|.	0.054|.	T|T	0.25537|0.25537	-1.0129|-1.0129	10|5	0.66056|.	D|.	0.02|.	-4.1098|-4.1098	6.9924|6.9924	0.24763|0.24763	0.1711:0.7407:0.0:0.0882|0.1711:0.7407:0.0:0.0882	.|.	584|.	Q9NUX5|.	POTE1_HUMAN|.	Y|V	584;453|82	ENSP00000350249:D584Y;ENSP00000377002:D453Y|.	ENSP00000350249:D584Y|.	D|G	-|-	1|2	0|0	POT1|POT1	124252584|124252584	1.000000|1.000000	0.71417|0.71417	0.027000|0.027000	0.17364|0.17364	0.352000|0.352000	0.29268|0.29268	1.081000|1.081000	0.30791|0.30791	1.256000|1.256000	0.44068|0.44068	-0.266000|-0.266000	0.10368|0.10368	GAT|GGA		0.333	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
GRM8	2918	broad.mit.edu	37	7	126173484	126173484	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:126173484C>T	ENST00000339582.2	-	9	2760	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	GRM8_ENST00000444921.2_Missense_Mutation_p.R651Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R651Q|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	651					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R651Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAAGACCCGTCGGAAGGAGCA	0.453										HNSCC(24;0.065)																											p.R651Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1952A	7						.						87.0	86.0	86.0					7																	126173484		2203	4300	6503	125960720	SO:0001583	missense	2918	exon9				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1952G>A	7.37:g.126173484C>T	ENSP00000344173:p.Arg651Gln	Somatic		Capture	Illumina HiSeq	Phase_I	125960720	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639953	0.47153	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.90004	-2.6;-2.6;-2.6	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	L	0.37466	1.105	0.80722	D	1	D;P	0.76494	0.999;0.784	D;B	0.64595	0.927;0.274	D	0.87576	0.2481	10	0.19590	T	0.45	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	651;651	O00222-2;O00222	.;GRM8_HUMAN	Q	651	ENSP00000344173:R651Q;ENSP00000409790:R651Q;ENSP00000351142:R651Q	ENSP00000344173:R651Q	R	-	2	0	GRM8	125960720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	CGA		0.453	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126544712	126544712	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:126544712C>A	ENST00000339582.2	-	4	1561	c.753G>T	c.(751-753)caG>caT	p.Q251H	GRM8_ENST00000444921.2_Missense_Mutation_p.Q251H|GRM8_ENST00000358373.3_Missense_Mutation_p.Q251H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.Q251H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	251					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.Q251H(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGGGATTTTCTGTGACTGAG	0.383										HNSCC(24;0.065)																											p.Q251H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G753T	7						.						87.0	88.0	87.0					7																	126544712		2203	4300	6503	126331948	SO:0001583	missense	2918	exon4				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.753G>T	7.37:g.126544712C>A	ENSP00000344173:p.Gln251His	Somatic		Capture	Illumina HiSeq	Phase_I	126331948	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	8.109	0.778461	0.16120	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.24	3.43	0.39272	Extracellular ligand-binding receptor (1);	0.074615	0.53938	D	0.000057	T	0.77232	0.4100	N	0.25485	0.75	0.35428	D	0.793839	B;B	0.12630	0.006;0.001	B;B	0.12156	0.001;0.007	T	0.76334	-0.2997	10	0.66056	D	0.02	.	6.8472	0.23994	0.0:0.6747:0.1588:0.1665	.	251;251	O00222-2;O00222	.;GRM8_HUMAN	H	251	ENSP00000344173:Q251H;ENSP00000409790:Q251H;ENSP00000351142:Q251H;ENSP00000385731:Q251H;ENSP00000415522:Q251H	ENSP00000344173:Q251H	Q	-	3	2	GRM8	126331948	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.651000	0.46674	1.216000	0.43427	-0.262000	0.10625	CAG		0.383	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
ZNF800	168850	broad.mit.edu	37	7	127013591	127013591	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:127013591T>C	ENST00000393313.1	-	5	2390	c.1799A>G	c.(1798-1800)tAt>tGt	p.Y600C	ZNF800_ENST00000265827.3_Missense_Mutation_p.Y600C|ZNF800_ENST00000393312.1_Missense_Mutation_p.Y600C|ZNF800_ENST00000485577.1_5'UTR			Q2TB10	ZN800_HUMAN	zinc finger protein 800	600					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.Y600C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGCTACTTCATACTTTTTACT	0.363																																					p.Y600C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1799G	7						.						141.0	142.0	141.0					7																	127013591		2203	4300	6503	126800827	SO:0001583	missense	168850	exon5			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1799A>G	7.37:g.127013591T>C	ENSP00000376989:p.Tyr600Cys	Somatic		Capture	Illumina HiSeq	Phase_I	126800827	NM_176814	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	T	8.456	0.854086	0.17106	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14266	2.52;2.52;2.52	5.7	5.7	0.88788	.	0.549710	0.19519	N	0.112330	T	0.14227	0.0344	N	0.08118	0	0.32285	N	0.567061	D;D	0.63046	0.992;0.992	P;P	0.53912	0.737;0.737	T	0.34354	-0.9832	9	0.38643	T	0.18	0.006	15.1457	0.72650	0.0:0.0:0.0:1.0	.	503;600	B7Z4V7;Q2TB10	.;ZN800_HUMAN	C	600	ENSP00000376989:Y600C;ENSP00000265827:Y600C;ENSP00000376988:Y600C	ENSP00000265827:Y600C	Y	-	2	0	ZNF800	126800827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	2.174000	0.68829	0.533000	0.62120	TAT		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814	
ZNF800	168850	broad.mit.edu	37	7	127014947	127014947	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:127014947G>A	ENST00000393313.1	-	5	1034	c.443C>T	c.(442-444)tCg>tTg	p.S148L	ZNF800_ENST00000265827.3_Missense_Mutation_p.S148L|ZNF800_ENST00000393312.1_Missense_Mutation_p.S148L|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	148					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.S148L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATCAGTCCTCGAAATATATTG	0.363																																					p.S148L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C443T	7						.						105.0	102.0	103.0					7																	127014947		2203	4300	6503	126802183	SO:0001583	missense	168850	exon5			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.443C>T	7.37:g.127014947G>A	ENSP00000376989:p.Ser148Leu	Somatic		Capture	Illumina HiSeq	Phase_I	126802183	NM_176814	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073820	0.36566	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.55588	2.11;2.11;2.11;0.51	5.68	4.79	0.61399	.	0.262101	0.39083	N	0.001480	T	0.32615	0.0835	L	0.32530	0.975	0.30358	N	0.784081	B;P	0.49253	0.002;0.921	B;B	0.29598	0.001;0.104	T	0.48375	-0.9041	9	0.17832	T	0.49	-1.6514	14.1564	0.65419	0.0731:0.0:0.9269:0.0	.	51;148	B7Z4V7;Q2TB10	.;ZN800_HUMAN	L	148	ENSP00000376989:S148L;ENSP00000265827:S148L;ENSP00000376988:S148L;ENSP00000403945:S148L	ENSP00000265827:S148L	S	-	2	0	ZNF800	126802183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.049000	0.57397	2.685000	0.91497	0.650000	0.86243	TCG		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814	
FAM71F1	84691	broad.mit.edu	37	7	128355499	128355499	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:128355499T>G	ENST00000315184.5	+	1	57	c.4T>G	c.(4-6)Ttg>Gtg	p.L2V	FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	2								p.L2V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGTAGAAATGTTGTCATCATT	0.512																																					p.L2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4G	7						.						72.0	75.0	74.0					7																	128355499		2203	4300	6503	128142735	SO:0001583	missense	84691	exon1			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.4T>G	7.37:g.128355499T>G	ENSP00000326652:p.Leu2Val	Somatic		Capture	Illumina HiSeq	Phase_I	128142735	NM_032599	Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.125712	0.37533	.	.	ENSG00000135248	ENST00000315184	T	0.08193	3.12	4.68	0.644	0.17776	.	1.461820	0.04271	N	0.342036	T	0.09512	0.0234	L	0.44542	1.39	0.19300	N	0.999977	B;B	0.20368	0.044;0.026	B;B	0.27715	0.082;0.037	T	0.41875	-0.9484	10	0.66056	D	0.02	-0.4467	3.5385	0.07803	0.3594:0.099:0.0:0.5416	.	2;2	Q96KD3-2;Q96KD3	.;F71F1_HUMAN	V	2	ENSP00000326652:L2V	ENSP00000326652:L2V	L	+	1	2	FAM71F1	128142735	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	0.386000	0.20702	-0.031000	0.13781	0.324000	0.21423	TTG		0.512	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599	
FLNC	2318	broad.mit.edu	37	7	128478810	128478810	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:128478810C>T	ENST00000325888.8	+	8	1625	c.1364C>T	c.(1363-1365)gCg>gTg	p.A455V	FLNC_ENST00000346177.6_Missense_Mutation_p.A455V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	455					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.A455V(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGCCTTTGCGGGTGCCCCC	0.622																																					p.A455V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1364T	7						.						74.0	82.0	79.0					7																	128478810		2070	4179	6249	128266046	SO:0001583	missense	2318	exon8			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1364C>T	7.37:g.128478810C>T	ENSP00000327145:p.Ala455Val	Somatic		Capture	Illumina HiSeq	Phase_I	128266046	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487252	0.96323	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.64803	-0.12;-0.12	4.9	4.9	0.64082	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.057884	0.64402	D	0.000002	T	0.73768	0.3629	M	0.89478	3.035	0.58432	D	0.999999	B;B	0.32918	0.022;0.39	B;B	0.40009	0.01;0.316	T	0.78899	-0.2022	10	0.87932	D	0	.	16.8105	0.85717	0.0:1.0:0.0:0.0	.	455;455	Q14315-2;Q14315	.;FLNC_HUMAN	V	455	ENSP00000327145:A455V;ENSP00000344002:A455V	ENSP00000327145:A455V	A	+	2	0	FLNC	128266046	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	5.817000	0.69229	2.532000	0.85374	0.561000	0.74099	GCG		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
IRF5	3663	broad.mit.edu	37	7	128587985	128587985	+	Silent	SNP	G	G	A	rs371741360		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:128587985G>A	ENST00000402030.2	+	7	1014	c.942G>A	c.(940-942)acG>acA	p.T314T	IRF5_ENST00000477535.1_Silent_p.T228T|IRF5_ENST00000249375.4_Silent_p.T314T|IRF5_ENST00000357234.5_Silent_p.T330T|IRF5_ENST00000473745.1_Silent_p.T314T	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	314					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T320T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCTTCTACACGAACCAGCTGC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18993	0.0		0.0	False		,,,				2504	0.0				p.T314T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G942A	7						.	G	,,,,	2,4404	4.2+/-10.8	0,2,2201	61.0	64.0	63.0		942,990,942,684,942	-10.1	0.8	7		63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	314/499,330/515,314/499,228/413,314/499	128587985	2,13004	2203	4300	6503	128375221	SO:0001819	synonymous_variant	3663	exon7				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.942G>A	7.37:g.128587985G>A		Somatic		Capture	Illumina HiSeq	Phase_I	128375221	NM_001098627	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	CCDS5808.1																																																																																				0.617	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627	
SMO	6608	broad.mit.edu	37	7	128845582	128845582	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:128845582C>T	ENST00000249373.3	+	4	1159	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	293					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I293I(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GCCGAGAGATCGTCTGCCGTG	0.577			Mis		skin basal cell																																p.I293I			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C879T	7						.						58.0	56.0	57.0					7																	128845582		2203	4300	6503	128632818	SO:0001819	synonymous_variant	6608	exon4			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.879C>T	7.37:g.128845582C>T		Somatic		Capture	Illumina HiSeq	Phase_I	128632818	NM_005631	A4D1K5	Silent	SNP	ENST00000249373.3	37	CCDS5811.1																																																																																				0.577	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
AHCYL2	23382	broad.mit.edu	37	7	129062724	129062724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:129062724C>T	ENST00000325006.3	+	13	1559	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	AHCYL2_ENST00000531335.2_Missense_Mutation_p.S421F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S400F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S399F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S399F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S501F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	502					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.S502F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CGAGTGAGATCTCAAGTTGAC	0.527																																					p.S502F	Pancreas(160;1736 1964 29875 40941 45605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	7						.						195.0	166.0	176.0					7																	129062724		2203	4300	6503	128849960	SO:0001583	missense	23382	exon13			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1505C>T	7.37:g.129062724C>T	ENSP00000315931:p.Ser502Phe	Somatic		Capture	Illumina HiSeq	Phase_I	128849960	NM_015328	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.806238|4.806238	0.90623|0.90623	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.78364	.|-1.17;-1.17;-1.15;-1.14;-1.14;-1.14	5.46|5.46	5.46|5.46	0.80206|0.80206	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88566|0.88566	0.6471|0.6471	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;D;P;D	.|0.57257	.|0.874;0.925;0.979;0.925;0.974	.|P;P;P;P;P	.|0.62382	.|0.86;0.86;0.901;0.86;0.84	D|D	0.90202|0.90202	0.4258|0.4258	5|10	.|0.87932	.|D	.|0	-14.0791|-14.0791	17.8846|17.8846	0.88850|0.88850	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|399;400;502;399;501	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	F|F	409|502;501;421;399;400;399	.|ENSP00000315931:S502F;ENSP00000413639:S501F;ENSP00000431787:S421F;ENSP00000420459:S399F;ENSP00000405267:S400F;ENSP00000420801:S399F	.|ENSP00000315931:S502F	L|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128849960|128849960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.772000|7.772000	0.85439|0.85439	2.557000|2.557000	0.86248|0.86248	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.527	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
NRF1	4899	broad.mit.edu	37	7	129367082	129367082	+	Splice_Site	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:129367082G>A	ENST00000393232.1	+	10	1342	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	NRF1_ENST00000223190.4_Splice_Site_p.E409K|NRF1_ENST00000539636.1_Splice_Site_p.E248K|NRF1_ENST00000393230.2_Splice_Site_p.E409K|NRF1_ENST00000311967.2_Splice_Site_p.E409K|NRF1_ENST00000353868.4_Splice_Site_p.E343K|NRF1_ENST00000393231.3_Splice_Site_p.E409K	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E409K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGCCCGCAGCGAAGCTGCCGC	0.577																																					p.E409K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1225A	7						.						38.0	37.0	37.0					7																	129367082		2203	4300	6503	129154318	SO:0001630	splice_region_variant	4899	exon10			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1224-1G>A	7.37:g.129367082G>A		Somatic		Capture	Illumina HiSeq	Phase_I	129154318	NM_005011	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.581454	0.96565	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	L	0.34521	1.04	0.80722	D	1	D;D	0.63046	0.99;0.992	P;D	0.65443	0.603;0.935	T	0.64884	-0.6302	9	0.45353	T	0.12	2.2433	19.5674	0.95401	0.0:0.0:1.0:0.0	.	409;409	Q96AN2;Q16656	.;NRF1_HUMAN	K	409;343;248;409;409;409;409	.	ENSP00000223190:E409K	E	+	1	0	NRF1	129154318	1.000000	0.71417	0.983000	0.44433	0.777000	0.43975	9.151000	0.94674	2.873000	0.98535	0.561000	0.74099	GAA		0.577	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	Missense_Mutation
MKLN1	4289	broad.mit.edu	37	7	131082050	131082050	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:131082050G>A	ENST00000352689.6	+	5	465	c.425G>A	c.(424-426)aGc>aAc	p.S142N	MKLN1_ENST00000421797.2_Missense_Mutation_p.S50N|MKLN1_ENST00000429546.1_Missense_Mutation_p.S50N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	142					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.S142N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGGGGACCCAGCTTTAACTTT	0.358																																					p.S142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	7						.						151.0	135.0	140.0					7																	131082050		2203	4300	6503	130732590	SO:0001583	missense	4289	exon5			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.425G>A	7.37:g.131082050G>A	ENSP00000323527:p.Ser142Asn	Somatic		Capture	Illumina HiSeq	Phase_I	130732590	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223059	0.39300	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	T;T	0.41400	1.97;1.0	6.03	6.03	0.97812	Muskelin, N-terminal (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	N	0.11789	0.175	0.80722	D	1	B;P;P	0.46784	0.036;0.884;0.79	B;P;B	0.45794	0.081;0.493;0.343	T	0.04737	-1.0930	10	0.21540	T	0.41	-13.8006	19.5478	0.95307	0.0:0.0:1.0:0.0	.	142;119;50	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	N	50;50;50;50;142	ENSP00000398094:S50N;ENSP00000323527:S142N	ENSP00000323527:S142N	S	+	2	0	MKLN1	130732590	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	AGC		0.358	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	
PODXL	5420	broad.mit.edu	37	7	131190676	131190676	+	Missense_Mutation	SNP	G	G	A	rs371046754		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:131190676G>A	ENST00000378555.3	-	8	1677	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	PODXL_ENST00000537928.1_Missense_Mutation_p.A445V|PODXL_ENST00000322985.9_Missense_Mutation_p.A445V|PODXL_ENST00000541194.1_Missense_Mutation_p.A479V			O00592	PODXL_HUMAN	podocalyxin-like	477					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.A477V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATAGAGGGCCGCCACGAGGAG	0.637																																					p.A477V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1430T	7						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	31.0	26.0	28.0		1430,1334	5.2	0.3	7		28	1,8583		0,1,4291	no	missense,missense	PODXL	NM_001018111.2,NM_005397.3	64,64	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	477/559,445/527	131190676	1,12989	2203	4292	6495	130841216	SO:0001583	missense	5420	exon8				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1430C>T	7.37:g.131190676G>A	ENSP00000367817:p.Ala477Val	Somatic		Capture	Illumina HiSeq	Phase_I	130841216	NM_001018111	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768897	0.90020	0.0	1.16E-4	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.21	5.21	0.72293	.	0.416166	0.21898	N	0.067481	T	0.46132	0.1377	M	0.68317	2.08	0.42745	D	0.99375	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.44862	-0.9300	10	0.87932	D	0	-39.2714	15.9199	0.79556	0.0:0.0:1.0:0.0	.	445;477	O00592-2;O00592	.;PODXL_HUMAN	V	479;445;435;477;445	ENSP00000440518:A479V;ENSP00000442655:A445V;ENSP00000367817:A477V;ENSP00000319782:A445V	ENSP00000319782:A445V	A	-	2	0	PODXL	130841216	1.000000	0.71417	0.269000	0.24586	0.973000	0.67179	6.312000	0.72840	2.427000	0.82271	0.561000	0.74099	GCG		0.637	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
PLXNA4	91584	broad.mit.edu	37	7	132169631	132169631	+	Intron	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:132169631G>T	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Q505K			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Q505K(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGACTCTCTGATCTGATATT	0.418																																					p.Q505K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1513A	7						.						107.0	102.0	104.0					7																	132169631		2203	4300	6503	131820171	SO:0001627	intron_variant	91584	exon5			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4419C>A	7.37:g.132169631G>T		Somatic		Capture	Illumina HiSeq	Phase_I	131820171	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	2.084	-0.410095	0.04799	.	.	ENSG00000221866	ENST00000378539	T	0.02323	4.34	3.16	0.234	0.15390	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.46610	-0.9179	9	0.87932	D	0	.	3.3699	0.07217	0.257:0.2198:0.5232:0.0	.	505	A4D1N6	.	K	505	ENSP00000367800:Q505K	ENSP00000367800:Q505K	Q	-	1	0	PLXNA4	131820171	0.055000	0.20627	0.001000	0.08648	0.798000	0.45092	0.172000	0.16704	0.039000	0.15632	0.561000	0.74099	CAG		0.418	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	132193310	132193310	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:132193310G>A	ENST00000359827.3	-	2	1105	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PLXNA4_ENST00000423507.2_Missense_Mutation_p.A48V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.A48V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.A48V			Q9HCM2	PLXA4_HUMAN	plexin A4	48	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A48V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAAACCCTCGGCGGGCTCTCC	0.587																																					p.A48V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C143T	7						.						40.0	43.0	42.0					7																	132193310		2203	4300	6503	131843850	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.143C>T	7.37:g.132193310G>A	ENSP00000352882:p.Ala48Val	Somatic		Capture	Illumina HiSeq	Phase_I	131843850	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	4.264	0.048165	0.08243	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.02421	5.51;5.51;4.31;4.3	5.53	4.63	0.57726	Semaphorin/CD100 antigen (2);	0.281266	0.26522	U	0.023918	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	B;B;B	0.25563	0.026;0.129;0.04	B;B;B	0.26614	0.025;0.071;0.04	T	0.41840	-0.9486	10	0.27082	T	0.32	.	16.2665	0.82581	0.0:0.1328:0.8671:0.0	.	48;48;48	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	V	48	ENSP00000323194:A48V;ENSP00000352882:A48V;ENSP00000392772:A48V;ENSP00000367800:A48V	ENSP00000323194:A48V	A	-	2	0	PLXNA4	131843850	0.995000	0.38212	0.002000	0.10522	0.002000	0.02628	7.453000	0.80700	1.300000	0.44818	0.563000	0.77884	GCC		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
AKR1B1	231	broad.mit.edu	37	7	134130004	134130004	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:134130004G>T	ENST00000285930.4	-	9	973	c.894C>A	c.(892-894)gtC>gtA	p.V298V		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	298					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.V298V(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	ACAAGGCACAGACCCTCCAGT	0.498																																					p.V298V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894A	7						.						85.0	73.0	77.0					7																	134130004		2203	4300	6503	133780544	SO:0001819	synonymous_variant	231	exon9			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.894C>A	7.37:g.134130004G>T		Somatic		Capture	Illumina HiSeq	Phase_I	133780544	NM_001628	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	CCDS5831.1																																																																																				0.498	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
CALD1	800	broad.mit.edu	37	7	134625950	134625950	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:134625950C>A	ENST00000361675.2	+	7	1723	c.1494C>A	c.(1492-1494)ttC>ttA	p.F498L	CALD1_ENST00000422748.1_Missense_Mutation_p.F269L|CALD1_ENST00000361388.2_Missense_Mutation_p.F269L|CALD1_ENST00000417172.1_Missense_Mutation_p.F243L|CALD1_ENST00000495522.1_Missense_Mutation_p.F263L|CALD1_ENST00000424922.1_Missense_Mutation_p.F237L|CALD1_ENST00000361901.2_Missense_Mutation_p.F243L|CALD1_ENST00000393118.2_Missense_Mutation_p.F263L|CALD1_ENST00000543443.1_Missense_Mutation_p.F248L			Q05682	CALD1_HUMAN	caldesmon 1	498					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.F498L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATGGAGAATTCATGACCCACA	0.328																																					p.F269L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C807A	7						.						80.0	74.0	76.0					7																	134625950		2203	4300	6503	134276490	SO:0001583	missense	800	exon7			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1494C>A	7.37:g.134625950C>A	ENSP00000354826:p.Phe498Leu	Somatic		Capture	Illumina HiSeq	Phase_I	134276490	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380896	0.11466	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.77	2.55	0.30701	.	0.129681	0.35466	N	0.003192	T	0.24431	0.0592	N	0.16130	0.375	0.32591	N	0.52723	B;B;B;B;B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001;0.001;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.002;0.005;0.001;0.001;0.001;0.001;0.005;0.002	T	0.19877	-1.0292	10	0.28530	T	0.3	-2.2081	11.1856	0.48655	0.0:0.7154:0.0:0.2846	.	192;248;269;263;237;263;243;269;498;243	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	L	243;243;269;269;498;243;263;237;263;248	ENSP00000398826:F243L;ENSP00000411476:F243L;ENSP00000355000:F269L;ENSP00000395710:F269L;ENSP00000354826:F498L;ENSP00000354513:F243L;ENSP00000376826:F263L;ENSP00000393621:F237L;ENSP00000419673:F263L;ENSP00000445641:F248L	ENSP00000355000:F269L	F	+	3	2	CALD1	134276490	0.811000	0.29063	0.999000	0.59377	0.903000	0.53119	0.283000	0.18846	0.788000	0.33755	0.655000	0.94253	TTC		0.328	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
SLC13A4	26266	broad.mit.edu	37	7	135392991	135392991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:135392991G>A	ENST00000354042.4	-	3	925	c.236C>T	c.(235-237)gCg>gTg	p.A79V		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	79					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.A79V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAAGTACTCCGCCGCCACCTG	0.612																																					p.A79V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C236T	7						.						79.0	81.0	80.0					7																	135392991		2203	4300	6503	135043531	SO:0001583	missense	26266	exon3			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.236C>T	7.37:g.135392991G>A	ENSP00000297282:p.Ala79Val	Somatic		Capture	Illumina HiSeq	Phase_I	135043531	NM_012450	A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487763	0.44249	.	.	ENSG00000164707	ENST00000354042	T	0.02812	4.15	5.07	4.18	0.49190	.	0.315359	0.32901	N	0.005506	T	0.06508	0.0167	L	0.43152	1.355	0.23577	N	0.997379	D	0.63880	0.993	P	0.55824	0.785	T	0.32268	-0.9913	10	0.26408	T	0.33	.	11.8985	0.52669	0.0:0.339:0.661:0.0	.	79	Q9UKG4	S13A4_HUMAN	V	79	ENSP00000297282:A79V	ENSP00000297282:A79V	A	-	2	0	SLC13A4	135043531	0.996000	0.38824	0.436000	0.26797	0.888000	0.51559	4.288000	0.59007	1.352000	0.45808	0.561000	0.74099	GCG		0.612	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
ETV1	2115	broad.mit.edu	37	7	13975488	13975488	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:13975488C>T	ENST00000430479.1	-	8	1066	c.399G>A	c.(397-399)agG>agA	p.R133R	ETV1_ENST00000405192.2_Silent_p.R133R|ETV1_ENST00000242066.5_Silent_p.R115R|ETV1_ENST00000405218.2_Silent_p.R133R|ETV1_ENST00000420159.2_Silent_p.R75R|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.R115R|ETV1_ENST00000405358.4_Silent_p.R147R|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000343495.5_Silent_p.R115R|ETV1_ENST00000403527.1_Silent_p.R93R	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	133					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R133R(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTTGGAGGGCCTCATTCCCA	0.493			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.R133R			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G399A	7						.						104.0	108.0	107.0					7																	13975488		2055	4197	6252	13942013	SO:0001819	synonymous_variant	2115	exon7				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.399G>A	7.37:g.13975488C>T		Somatic		Capture	Illumina HiSeq	Phase_I	13942013	NM_001163147	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	CCDS55088.1																																																																																				0.493	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
UBN2	254048	broad.mit.edu	37	7	138946316	138946316	+	Silent	SNP	C	C	T	rs377072849	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:138946316C>T	ENST00000473989.3	+	6	1224	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	UBN2_ENST00000288561.8_Silent_p.F325F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	408						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.F325F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTTTGACTTCGACAGATTAC	0.483													C|||	4	0.000798722	0.003	0.0	5008	,	,		18634	0.0		0.0	False		,,,				2504	0.0				p.F408F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1224T	7						.	C		7,3835		0,7,1914	103.0	100.0	101.0		1224	1.0	1.0	7		101	0,8260		0,0,4130	no	coding-synonymous	UBN2	NM_173569.3		0,7,6044	TT,TC,CC		0.0,0.1822,0.0578		408/1348	138946316	7,12095	1921	4130	6051	138596856	SO:0001819	synonymous_variant	254048	exon6			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1224C>T	7.37:g.138946316C>T		Somatic		Capture	Illumina HiSeq	Phase_I	138596856	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	8.677	0.904259	0.17760	0.001822	0.0	ENSG00000157741	ENST00000483726	.	.	.	6.08	0.967	0.19674	.	.	.	.	.	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50423	-0.8830	4	.	.	.	-7.0076	10.016	0.42014	0.0:0.0612:0.2169:0.7219	.	.	.	.	L	177	.	.	S	+	2	0	UBN2	138596856	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	0.810000	0.27183	-0.060000	0.13132	-2.282000	0.00269	TCG		0.483	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
MKRN1	23608	broad.mit.edu	37	7	140158888	140158888	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:140158888A>T	ENST00000255977.2	-	4	914	c.690T>A	c.(688-690)taT>taA	p.Y230*	MKRN1_ENST00000474576.1_Nonsense_Mutation_p.Y166*|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Nonsense_Mutation_p.Y230*|MKRN1_ENST00000437223.2_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	230					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y230*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCCGTGGAGATACACACAGT	0.522																																					p.Y230X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T690A	7						.						128.0	123.0	125.0					7																	140158888		2203	4300	6503	139805357	SO:0001587	stop_gained	23608	exon4			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.690T>A	7.37:g.140158888A>T	ENSP00000255977:p.Tyr230*	Somatic		Capture	Illumina HiSeq	Phase_I	139805357	NM_001145125	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Nonsense_Mutation	SNP	ENST00000255977.2	37	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248273	0.80024	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104	.	.	.	4.91	-1.6	0.08426	.	0.055847	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3732	0.44066	0.557:0.0:0.443:0.0	.	.	.	.	X	230;166;166;230;166	.	ENSP00000255977:Y230X	Y	-	3	2	MKRN1	139805357	0.996000	0.38824	0.986000	0.45419	0.984000	0.73092	0.605000	0.24179	-0.442000	0.07190	0.454000	0.30748	TAT		0.522	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446	
KIAA1147	57189	broad.mit.edu	37	7	141365074	141365074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:141365074C>T	ENST00000536163.1	-	6	864	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.G185R	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	289								p.I288_G290delIGG(1)|p.G289R(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					ATGGTGCCCCCGATGCCAGGC	0.602																																					p.G289R												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|breast(1)	c.G865A	7						.						73.0	80.0	78.0					7																	141365074		2137	4234	6371	141011543	SO:0001583	missense	57189	exon6			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.865G>A	7.37:g.141365074C>T	ENSP00000445768:p.Gly289Arg	Somatic		Capture	Illumina HiSeq	Phase_I	141011543	NM_001080392	Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638945	0.87760	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.96	4.08	0.47627	.	0.103794	0.64402	N	0.000003	T	0.65312	0.2679	M	0.62016	1.91	0.58432	D	0.999998	D	0.63046	0.992	P	0.57679	0.825	T	0.61964	-0.6954	9	0.16896	T	0.51	-24.9257	13.3619	0.60661	0.0:0.923:0.0:0.077	.	289	A4D1U4	LCHN_HUMAN	R	289;185	.	ENSP00000297761:G289R	G	-	1	0	KIAA1147	141011543	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	5.274000	0.65569	1.055000	0.40461	0.655000	0.94253	GGG		0.602	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1		
MGAM	8972	broad.mit.edu	37	7	141758057	141758057	+	Missense_Mutation	SNP	C	C	T	rs377213841		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:141758057C>T	ENST00000549489.2	+	31	3843	c.3748C>T	c.(3748-3750)Cgc>Tgc	p.R1250C	MGAM_ENST00000475668.2_Missense_Mutation_p.R1250C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1250	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1250C(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGCTGTGTCGCTATGGCTA	0.483																																					p.R1250C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3748T	7						.	C	CYS/ARG	0,3896		0,0,1948	247.0	238.0	241.0		3748	3.7	1.0	7		241	1,8307		0,1,4153	no	missense	MGAM	NM_004668.2	180	0,1,6101	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	1250/1858	141758057	1,12203	1948	4154	6102	141404526	SO:0001583	missense	8972	exon31			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.3748C>T	7.37:g.141758057C>T	ENSP00000447378:p.Arg1250Cys	Somatic		Capture	Illumina HiSeq	Phase_I	141404526	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.912242	0.52439	0.0	1.2E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92911	-3.13	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.97682	0.9240	H	0.98721	4.31	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98965	1.0799	9	0.87932	D	0	.	14.3362	0.66592	0.0:1.0:0.0:0.0	.	1250	O43451	MGA_HUMAN	C	1250;1250;1127	ENSP00000447378:R1250C	ENSP00000316431:R1127C	R	+	1	0	MGAM	141404526	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	7.550000	0.82173	1.623000	0.50342	0.173000	0.16961	CGC		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
KEL	3792	broad.mit.edu	37	7	142639534	142639534	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:142639534C>T	ENST00000355265.2	-	18	2498	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	675					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R675Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGCATAGCTTCGAAAGAAGAT	0.577																																					p.R675Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2024A	7						.						43.0	32.0	35.0					7																	142639534		2203	4300	6503	142349656	SO:0001583	missense	3792	exon18			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2024G>A	7.37:g.142639534C>T	ENSP00000347409:p.Arg675Gln	Somatic		Capture	Illumina HiSeq	Phase_I	142349656	NM_000420	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296186	0.40594	.	.	ENSG00000197993	ENST00000355265	D	0.82255	-1.59	4.34	-0.891	0.10573	Peptidase M13, neprilysin, C-terminal (1);	0.627416	0.13318	N	0.396946	T	0.69006	0.3063	L	0.38838	1.175	0.25221	N	0.989901	B	0.25169	0.119	B	0.18871	0.023	T	0.57963	-0.7720	10	0.59425	D	0.04	-12.1711	3.0019	0.06016	0.324:0.387:0.0:0.289	.	675	P23276	KELL_HUMAN	Q	675	ENSP00000347409:R675Q	ENSP00000347409:R675Q	R	-	2	0	KEL	142349656	0.014000	0.17966	0.994000	0.49952	0.967000	0.64934	-1.721000	0.01870	-0.124000	0.11724	-0.140000	0.14226	CGA		0.577	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
CLCN1	1180	broad.mit.edu	37	7	143036630	143036630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:143036630G>T	ENST00000343257.2	+	14	1585	c.1498G>T	c.(1498-1500)Gaa>Taa	p.E500*		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	500					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E500K(1)|p.E500*(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTGGTAGGAGAAATCATGGC	0.443																																					p.E500X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|skin(1)	c.G1498T	7						.						170.0	152.0	158.0					7																	143036630		2203	4300	6503	142746752	SO:0001587	stop_gained	1180	exon14			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1498G>T	7.37:g.143036630G>T	ENSP00000339867:p.Glu500*	Somatic		Capture	Illumina HiSeq	Phase_I	142746752	NM_000083	A4D2H5|Q2M202	Nonsense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	39	7.893600	0.98548	.	.	ENSG00000188037	ENST00000343257	.	.	.	5.08	5.08	0.68730	.	0.099608	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4465	0.90686	0.0:0.0:1.0:0.0	.	.	.	.	X	500	.	ENSP00000339867:E500X	E	+	1	0	CLCN1	142746752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.855000	0.99526	2.351000	0.79841	0.643000	0.83706	GAA		0.443	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
OR2A5	393046	broad.mit.edu	37	7	143747731	143747731	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:143747731G>T	ENST00000408906.2	+	1	271	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K79N(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATGTCCCCAAGATGCTGACAA	0.463																																					p.K79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	7						.						115.0	116.0	116.0					7																	143747731		2193	4293	6486	143378664	SO:0001583	missense	393046	exon1			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.237G>T	7.37:g.143747731G>T	ENSP00000386208:p.Lys79Asn	Somatic		Capture	Illumina HiSeq	Phase_I	143378664	NM_012365	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312568	0.23908	.	.	ENSG00000221836	ENST00000408906	T	0.00469	7.21	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	L	0.43701	1.375	0.28512	N	0.913501	B	0.12013	0.005	B	0.13407	0.009	T	0.44267	-0.9339	9	0.72032	D	0.01	.	11.5247	0.50573	0.0:0.0:0.8216:0.1784	.	79	Q96R48	OR2A5_HUMAN	N	79	ENSP00000386208:K79N	ENSP00000386208:K79N	K	+	3	2	OR2A5	143378664	0.000000	0.05858	1.000000	0.80357	0.627000	0.37826	0.036000	0.13819	2.797000	0.96272	0.650000	0.86243	AAG		0.463	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
OR2A7	401427	broad.mit.edu	37	7	143956020	143956020	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:143956020C>T	ENST00000493325.1	-	1	795	c.702G>A	c.(700-702)agG>agA	p.R234R	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234R(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGAAGGCTTTCCTCTGAACTT	0.478																																					p.R234R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G702A	7						.						178.0	180.0	179.0					7																	143956020		2203	4300	6503	143586953	SO:0001819	synonymous_variant	401427	exon1				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.702G>A	7.37:g.143956020C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143586953	NM_001005328	B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	CCDS55177.1																																																																																				0.478	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1		
NOBOX	135935	broad.mit.edu	37	7	144097342	144097342	+	Missense_Mutation	SNP	C	C	T	rs200423745		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:144097342C>T	ENST00000467773.1	-	5	907	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	NOBOX_ENST00000223140.5_Missense_Mutation_p.R218Q|NOBOX_ENST00000483238.1_Missense_Mutation_p.R303Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	303					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R303Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCAATCTCTCGGCGTTTATC	0.552																																					p.R218Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653A	7						.	C	GLN/ARG	0,3776		0,0,1888	84.0	78.0	80.0		908	-0.6	0.4	7		80	1,8237		0,1,4118	no	missense	NOBOX	NM_001080413.3	43	0,1,6006	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	303/692	144097342	1,12013	1888	4119	6007	143728275	SO:0001583	missense	135935	exon3					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.908G>A	7.37:g.144097342C>T	ENSP00000419457:p.Arg303Gln	Somatic		Capture	Illumina HiSeq	Phase_I	143728275	NM_001080413	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	C	12.62	1.992307	0.35131	0.0	1.21E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.95724	-3.79;-3.79;-3.79	5.79	-0.569	0.11756	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.433924	0.22586	N	0.058146	D	0.87962	0.6310	N	0.25890	0.77	0.21355	N	0.999718	P	0.47841	0.901	B	0.34722	0.188	T	0.81420	-0.0941	10	0.59425	D	0.04	-10.9534	9.7195	0.40295	0.0:0.5157:0.0:0.4843	.	303	O60393	NOBOX_HUMAN	Q	303;303;218;92	ENSP00000419565:R303Q;ENSP00000419457:R303Q;ENSP00000223140:R218Q	ENSP00000223140:R218Q	R	-	2	0	NOBOX	143728275	0.174000	0.23070	0.375000	0.26029	0.393000	0.30537	0.479000	0.22228	-0.419000	0.07439	0.650000	0.86243	CGA		0.552	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
NOBOX	135935	broad.mit.edu	37	7	144098156	144098156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:144098156C>T	ENST00000467773.1	-	4	826	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NOBOX_ENST00000223140.5_Missense_Mutation_p.R191Q|NOBOX_ENST00000483238.1_Missense_Mutation_p.R276Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	276					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R276Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTATAGGGTTCGTGTCTTTTT	0.542																																					p.R191Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572A	7						.						81.0	78.0	79.0					7																	144098156		1847	4091	5938	143729089	SO:0001583	missense	135935	exon2					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.827G>A	7.37:g.144098156C>T	ENSP00000419457:p.Arg276Gln	Somatic		Capture	Illumina HiSeq	Phase_I	143729089	NM_001080413	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.488860	0.84962	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.99150	-5.49;-5.49;-5.49	5.15	5.15	0.70609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.179521	0.35870	N	0.002935	D	0.99539	0.9835	H	0.97611	4.04	0.40416	D	0.979794	D	0.89917	1.0	D	0.97110	1.0	D	0.98160	1.0446	10	0.87932	D	0	-24.358	13.9985	0.64419	0.0:1.0:0.0:0.0	.	276	O60393	NOBOX_HUMAN	Q	276;276;191;65	ENSP00000419565:R276Q;ENSP00000419457:R276Q;ENSP00000223140:R191Q	ENSP00000223140:R191Q	R	-	2	0	NOBOX	143729089	0.999000	0.42202	1.000000	0.80357	0.898000	0.52572	3.589000	0.53972	2.671000	0.90904	0.650000	0.86243	CGA		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
DGKB	1607	broad.mit.edu	37	7	14661059	14661059	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:14661059C>A	ENST00000403951.2	-	15	1650	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	DGKB_ENST00000444700.2_Missense_Mutation_p.D392Y|DGKB_ENST00000406247.3_Missense_Mutation_p.D411Y|DGKB_ENST00000402815.1_Missense_Mutation_p.D410Y|DGKB_ENST00000258767.5_Missense_Mutation_p.D411Y|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.D411Y|DGKB_ENST00000407950.1_Missense_Mutation_p.D403Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	411					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.D411Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTATTCTTGTCAATCACTTTG	0.313																																					p.D411Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1231T	7						.						128.0	114.0	119.0					7																	14661059		1833	4081	5914	14627584	SO:0001583	missense	1607	exon14			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1231G>T	7.37:g.14661059C>A	ENSP00000385780:p.Asp411Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	14627584	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804268	0.31869	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.80304	-1.26;-1.26;-1.26;-1.24;-1.24;-1.24;-1.36	4.86	3.97	0.46021	.	0.368500	0.27397	N	0.019546	T	0.72993	0.3530	L	0.34521	1.04	0.36838	D	0.887227	B;B;P;B	0.34462	0.181;0.122;0.454;0.181	B;B;B;B	0.36244	0.08;0.096;0.22;0.074	T	0.77453	-0.2582	10	0.59425	D	0.04	.	13.1922	0.59717	0.0:0.9222:0.0:0.0778	.	410;392;411;411	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Y	411;411;411;410;403;392;411	ENSP00000385780:D411Y;ENSP00000382260:D411Y;ENSP00000258767:D411Y;ENSP00000384909:D410Y;ENSP00000385031:D403Y;ENSP00000388451:D392Y;ENSP00000386066:D411Y	ENSP00000258767:D411Y	D	-	1	0	DGKB	14627584	0.994000	0.37717	0.868000	0.34077	0.644000	0.38419	2.364000	0.44187	1.170000	0.42753	0.313000	0.20887	GAC		0.313	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
NOBOX	135935	broad.mit.edu	37	7	144098222	144098222	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:144098222C>T	ENST00000467773.1	-	4	760	c.761G>A	c.(760-762)aGc>aAc	p.S254N	NOBOX_ENST00000223140.5_Missense_Mutation_p.S169N|NOBOX_ENST00000483238.1_Missense_Mutation_p.S254N	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	254					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S254N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTTTTGGTTGCTCTGCGCCAA	0.587																																					p.S169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	7						.						56.0	54.0	55.0					7																	144098222		1892	4098	5990	143729155	SO:0001583	missense	135935	exon2					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.761G>A	7.37:g.144098222C>T	ENSP00000419457:p.Ser254Asn	Somatic		Capture	Illumina HiSeq	Phase_I	143729155	NM_001080413	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	C	0.066	-1.213233	0.01555	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.93426	-3.0;-3.22;-2.98	4.76	-1.83	0.07833	.	0.572610	0.16911	N	0.194514	T	0.80019	0.4547	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.67296	-0.5706	10	0.14656	T	0.56	-6.97	9.5982	0.39587	0.0:0.5683:0.0:0.4317	.	254	O60393	NOBOX_HUMAN	N	254;254;169;43	ENSP00000419565:S254N;ENSP00000419457:S254N;ENSP00000223140:S169N	ENSP00000223140:S169N	S	-	2	0	NOBOX	143729155	0.110000	0.22057	0.001000	0.08648	0.143000	0.21401	-0.033000	0.12246	-0.206000	0.10203	0.555000	0.69702	AGC		0.587	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
CNTNAP2	26047	broad.mit.edu	37	7	146741067	146741067	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:146741067C>A	ENST00000361727.3	+	4	987	c.471C>A	c.(469-471)cgC>cgA	p.R157R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	157	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R157R(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTATTGCCCGCTATGTGCGCA	0.428										HNSCC(39;0.1)																											p.R157R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471A	7						.						192.0	167.0	176.0					7																	146741067		2203	4300	6503	146372000	SO:0001819	synonymous_variant	26047	exon4			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.471C>A	7.37:g.146741067C>A		Somatic		Capture	Illumina HiSeq	Phase_I	146372000	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
INTS1	26173	broad.mit.edu	37	7	1513310	1513310	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:1513310C>T	ENST00000404767.3	-	42	5934	c.5849G>A	c.(5848-5850)cGc>cAc	p.R1950H	INTS1_ENST00000389470.4_Missense_Mutation_p.R2154H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1950					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.R2154H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGCCAGATGGCGGGAGGACTT	0.557											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1950H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5849A	7						.						85.0	94.0	91.0					7																	1513310		2080	4212	6292	1479836	SO:0001583	missense	26173	exon42			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5849G>A	7.37:g.1513310C>T	ENSP00000385722:p.Arg1950His	Somatic	596	Capture	Illumina HiSeq	Phase_I	1479836	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222653	0.79464	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52526	0.71;0.66	4.94	4.94	0.65067	.	0.106727	0.64402	D	0.000010	T	0.52370	0.1730	M	0.65975	2.015	0.52501	D	0.99995	D	0.61080	0.989	B	0.44044	0.439	T	0.62647	-0.6810	10	0.72032	D	0.01	.	18.1697	0.89742	0.0:1.0:0.0:0.0	.	1950	Q8N201	INT1_HUMAN	H	1950;2154	ENSP00000385722:R1950H;ENSP00000374121:R2154H	ENSP00000374121:R2154H	R	-	2	0	INTS1	1479836	1.000000	0.71417	0.972000	0.41901	0.485000	0.33311	7.234000	0.78134	2.306000	0.77630	0.561000	0.74099	CGC		0.557	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
CNTNAP2	26047	broad.mit.edu	37	7	146829381	146829381	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:146829381C>T	ENST00000361727.3	+	8	1644	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	376					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V376V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGTGCCTGTCTTTTTCAACG	0.458										HNSCC(39;0.1)																											p.V376V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1128T	7						.						128.0	124.0	125.0					7																	146829381		2203	4300	6503	146460314	SO:0001819	synonymous_variant	26047	exon8			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1128C>T	7.37:g.146829381C>T		Somatic		Capture	Illumina HiSeq	Phase_I	146460314	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.458	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
ZNF783	100289678	broad.mit.edu	37	7	148963693	148963693	+	Missense_Mutation	SNP	G	G	A	rs148032718		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:148963693G>A	ENST00000434415.1	+	2	455	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V98M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CAAGTGGGCCGTGCTGGGGAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17935	0.001		0.0	False		,,,				2504	0.0				p.V98M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	7						.	G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	66.0	70.0	69.0		292	1.9	1.0	7	dbSNP_134	69	0,8600		0,0,4300	no	missense	ZNF783	NM_001195220.1	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		98/547	148963693	2,13004	2203	4300	6503	148594626	SO:0001583	missense	155060	exon2			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.292G>A	7.37:g.148963693G>A	ENSP00000410890:p.Val98Met	Somatic		Capture	Illumina HiSeq	Phase_I	148594626	NM_001195220	C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	CCDS56519.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.70	3.194603	0.58017	4.54E-4	0.0	ENSG00000204946	ENST00000434415	T	0.24350	1.86	4.88	1.89	0.25635	.	0.287713	0.18906	N	0.127885	T	0.39886	0.1095	M	0.81497	2.545	0.80722	D	1	.	.	.	.	.	.	T	0.21930	-1.0231	8	0.72032	D	0.01	-19.2264	5.7269	0.18018	0.0941:0.0:0.5672:0.3386	.	.	.	.	M	98	ENSP00000410890:V98M	ENSP00000367291:V98M	V	+	1	0	ZNF783	148594626	0.782000	0.28689	1.000000	0.80357	0.997000	0.91878	1.842000	0.39250	0.469000	0.27268	0.561000	0.74099	GTG		0.637	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220	
ZNF777	27153	broad.mit.edu	37	7	149133892	149133892	+	Silent	SNP	G	G	A	rs372038159		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:149133892G>A	ENST00000247930.4	-	5	1436	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	371	Glu-rich.				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.I371I(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTGTACCTCGATCTTAATCA	0.567																																					p.I371I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113T	7						.	G		1,3935		0,1,1967	84.0	86.0	85.0		1113	1.2	1.0	7		85	6,8268		0,6,4131	no	coding-synonymous	ZNF777	NM_015694.2		0,7,6098	AA,AG,GG		0.0725,0.0254,0.0573		371/832	149133892	7,12203	1968	4137	6105	148764825	SO:0001819	synonymous_variant	27153	exon5			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1113C>T	7.37:g.149133892G>A		Somatic		Capture	Illumina HiSeq	Phase_I	148764825	NM_015694	Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	CCDS43675.1																																																																																				0.567	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694	
ZNF467	168544	broad.mit.edu	37	7	149467639	149467639	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:149467639G>T	ENST00000302017.3	-	3	454	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	ZNF467_ENST00000484747.1_Missense_Mutation_p.S14Y	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	14					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.S14Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTCCCACAGAGAATCCTGT	0.562																																					p.S14Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C41A	7						.						62.0	66.0	65.0					7																	149467639		2203	4300	6503	149098572	SO:0001583	missense	168544	exon3			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.41C>A	7.37:g.149467639G>T	ENSP00000304769:p.Ser14Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	149098572	NM_207336		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	g	18.05	3.537017	0.65085	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	T	0.09723	2.95	4.48	3.6	0.41247	.	.	.	.	.	T	0.18383	0.0441	L	0.32530	0.975	0.32977	D	0.523143	D;D	0.76494	0.971;0.999	P;D	0.74674	0.543;0.984	T	0.11299	-1.0593	9	0.21014	T	0.42	-14.1302	10.2549	0.43392	0.0977:0.0:0.9023:0.0	.	14;14	Q7Z7K2;C9JAX3	ZN467_HUMAN;.	Y	14	ENSP00000304769:S14Y	ENSP00000304769:S14Y	S	-	2	0	ZNF467	149098572	0.912000	0.30974	1.000000	0.80357	0.998000	0.95712	1.776000	0.38594	1.105000	0.41606	0.651000	0.88453	TCT		0.562	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
SSPO	23145	broad.mit.edu	37	7	149512783	149512783	+	RNA	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:149512783C>A	ENST00000378016.2	+	0	10790							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)			TCAGGGATCCCTGAGAACCAG	0.637																																					p.P3600P												.	.	0			c.C10800A	7						.						18.0	22.0	21.0					7																	149512783		1858	4056	5914	149143716			23145	exon72			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.149512783C>A		Somatic		Capture	Illumina HiSeq	Phase_I	149143716	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
ZNF862	643641	broad.mit.edu	37	7	149545190	149545190	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:149545190T>C	ENST00000223210.4	+	4	853	c.608T>C	c.(607-609)gTc>gCc	p.V203A		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V203A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ATGTTCTGTGTCAATGCCTTG	0.557																																					p.V203A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T608C	7						.						65.0	67.0	66.0					7																	149545190		2041	4205	6246	149176123	SO:0001583	missense	643641	exon4			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.608T>C	7.37:g.149545190T>C	ENSP00000223210:p.Val203Ala	Somatic		Capture	Illumina HiSeq	Phase_I	149176123	NM_001099220	A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256729	0.22965	.	.	ENSG00000106479	ENST00000223210	T	0.01295	5.04	5.39	4.23	0.50019	Zinc finger, TTF-type (1);	0.285618	0.25104	N	0.033118	T	0.02267	0.0070	M	0.62723	1.935	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.36529	-0.9744	10	0.87932	D	0	-27.8603	8.2293	0.31589	0.0:0.0901:0.0:0.9099	.	203	O60290	ZN862_HUMAN	A	203	ENSP00000223210:V203A	ENSP00000223210:V203A	V	+	2	0	ZNF862	149176123	0.311000	0.24536	0.945000	0.38365	0.071000	0.16799	1.063000	0.30567	0.888000	0.36160	0.533000	0.62120	GTC		0.557	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220	
NOS3	4846	broad.mit.edu	37	7	150699009	150699009	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:150699009G>A	ENST00000484524.1	+	12	1603	c.1603G>A	c.(1603-1605)Gca>Aca	p.A535T	NOS3_ENST00000297494.3_Missense_Mutation_p.A535T|NOS3_ENST00000461406.1_Missense_Mutation_p.A329T|NOS3_ENST00000467517.1_Missense_Mutation_p.A535T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A535T(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGAGCTACGCACAGCAGCT	0.632																																					p.A535T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1603A	7						.						39.0	43.0	42.0					7																	150699009		2203	4300	6503	150329942	SO:0001583	missense	4846	exon13				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1603G>A	7.37:g.150699009G>A	ENSP00000420215:p.Ala535Thr	Somatic		Capture	Illumina HiSeq	Phase_I	150329942	NM_000603	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978615	0.92982	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.53938	D	0.000048	D	0.97473	0.9173	M	0.93375	3.41	0.54753	D	0.999988	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.995;0.954;1.0;0.982	D	0.98417	1.0575	10	0.72032	D	0.01	-9.1531	15.7394	0.77876	0.0:0.0:1.0:0.0	.	535;535;535;329;535	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	T	535;329;535;535	ENSP00000297494:A535T;ENSP00000417143:A329T;ENSP00000420215:A535T;ENSP00000420551:A535T	ENSP00000297494:A535T	A	+	1	0	NOS3	150329942	1.000000	0.71417	0.945000	0.38365	0.743000	0.42351	9.261000	0.95576	2.376000	0.81061	0.655000	0.94253	GCA		0.632	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
GALNTL5	168391	broad.mit.edu	37	7	151711867	151711867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:151711867G>A	ENST00000392800.2	+	8	1419	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	GALNTL5_ENST00000431418.2_Missense_Mutation_p.D389N	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	389					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.D389N(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGTTTGGCTGGATGAATATAA	0.463																																					p.D389N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165A	7						.						146.0	125.0	132.0					7																	151711867		2203	4300	6503	151342800	SO:0001583	missense	168391	exon8			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1165G>A	7.37:g.151711867G>A	ENSP00000376548:p.Asp389Asn	Somatic		Capture	Illumina HiSeq	Phase_I	151342800	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226200	0.79576	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.71222	-0.55;-0.55	3.64	3.64	0.41730	.	0.000000	0.36854	N	0.002379	D	0.88973	0.6583	H	0.97918	4.105	0.48696	D	0.999698	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92033	0.5635	10	0.87932	D	0	.	12.1494	0.54042	0.0:0.0:1.0:0.0	.	140;389	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	N	389	ENSP00000392582:D389N;ENSP00000376548:D389N	ENSP00000376548:D389N	D	+	1	0	GALNTL5	151342800	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.990000	0.88215	1.869000	0.54173	0.491000	0.48974	GAT		0.463	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	
GALNT11	63917	broad.mit.edu	37	7	151791457	151791457	+	Missense_Mutation	SNP	G	G	A	rs200338013		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:151791457G>A	ENST00000434507.1	+	4	582	c.145G>A	c.(145-147)Gga>Aga	p.G49R	GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000422997.2_Missense_Mutation_p.G49R|GALNT11_ENST00000320311.2_Missense_Mutation_p.G49R|GALNT11_ENST00000415421.1_Missense_Mutation_p.G49R|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.G49R			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	49					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G49R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGGCCCCACGGACCATCTCC	0.473																																					p.G49R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	7						.						113.0	116.0	115.0					7																	151791457		2203	4300	6503	151422390	SO:0001583	missense	63917	exon2			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.145G>A	7.37:g.151791457G>A	ENSP00000416787:p.Gly49Arg	Somatic		Capture	Illumina HiSeq	Phase_I	151422390	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903188	0.33628	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.8	5.8	0.92144	.	1.019280	0.07828	N	0.960871	T	0.26268	0.0641	L	0.51422	1.61	0.27520	N	0.95142	B;B	0.31640	0.333;0.023	B;B	0.25506	0.061;0.003	T	0.20907	-1.0261	10	0.16896	T	0.51	.	7.597	0.28054	0.193:0.0:0.807:0.0	.	49;49	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	R	49	ENSP00000395122:G49R;ENSP00000395020:G49R;ENSP00000414890:G49R;ENSP00000393892:G49R;ENSP00000416787:G49R;ENSP00000410093:G49R;ENSP00000315835:G49R;ENSP00000397581:G49R;ENSP00000412142:G49R;ENSP00000389449:G49R	ENSP00000315835:G49R	G	+	1	0	GALNT11	151422390	0.998000	0.40836	0.701000	0.30321	0.650000	0.38633	3.152000	0.50677	2.758000	0.94735	0.563000	0.77884	GGA		0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	
KMT2C	58508	broad.mit.edu	37	7	151878622	151878622	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:151878622G>T	ENST00000262189.6	-	36	6541	c.6323C>A	c.(6322-6324)tCt>tAt	p.S2108Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2108Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2108	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S2108Y(2)									ATGGGCAAAAGATTCATTCAC	0.473																																					p.S2108Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6323A	7						.						100.0	102.0	101.0					7																	151878622		2203	4300	6503	151509555	SO:0001583	missense	58508	exon36			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6323C>A	7.37:g.151878622G>T	ENSP00000262189:p.Ser2108Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	151509555	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570722	0.28003	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84944	-1.91;-1.92	5.38	5.38	0.77491	.	0.000000	0.44688	D	0.000437	D	0.90758	0.7099	M	0.62723	1.935	0.80722	D	1	B;D	0.71674	0.055;0.998	B;P	0.62560	0.021;0.904	D	0.91416	0.5155	10	0.72032	D	0.01	.	19.1469	0.93472	0.0:0.0:1.0:0.0	.	2108;1169	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Y	2108	ENSP00000262189:S2108Y;ENSP00000347325:S2108Y	ENSP00000262189:S2108Y	S	-	2	0	MLL3	151509555	0.964000	0.33143	0.755000	0.31263	0.742000	0.42306	2.452000	0.44961	2.531000	0.85337	0.563000	0.77884	TCT		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151891206	151891206	+	Silent	SNP	G	G	A	rs201322783	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:151891206G>A	ENST00000262189.6	-	31	4766	c.4548C>T	c.(4546-4548)ggC>ggT	p.G1516G	KMT2C_ENST00000355193.2_Silent_p.G1516G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1516					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G1516G(2)									CATCTTTTCCGCCAAGCTCTA	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14968	0.0		0.001	False		,,,				2504	0.0				p.G1516G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4548T	7						.						88.0	86.0	87.0					7																	151891206		2203	4300	6503	151522139	SO:0001819	synonymous_variant	58508	exon31			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4548C>T	7.37:g.151891206G>A		Somatic		Capture	Illumina HiSeq	Phase_I	151522139	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151945553	151945553	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:151945553C>T	ENST00000262189.6	-	14	2184	c.1966G>A	c.(1966-1968)Gtt>Att	p.V656I	KMT2C_ENST00000355193.2_Missense_Mutation_p.V656I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	656					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V656I(2)									TGGTGTGTAACGACTTCAATG	0.393																																					p.V656I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1966A	7						.						82.0	76.0	78.0					7																	151945553		2203	4300	6503	151576486	SO:0001583	missense	58508	exon14			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1966G>A	7.37:g.151945553C>T	ENSP00000262189:p.Val656Ile	Somatic		Capture	Illumina HiSeq	Phase_I	151576486	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820551	0.16678	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.7;-1.71	5.12	-4.66	0.03329	.	1.395780	0.05128	N	0.492020	T	0.63604	0.2525	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.20519	T	0.43	.	0.8444	0.01157	0.1953:0.1941:0.2918:0.3188	.	656	Q8NEZ4	MLL3_HUMAN	I	656	ENSP00000262189:V656I;ENSP00000347325:V656I	ENSP00000262189:V656I	V	-	1	0	MLL3	151576486	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.263000	0.08670	-0.724000	0.04908	-1.078000	0.02229	GTT		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
XRCC2	7516	broad.mit.edu	37	7	152346089	152346089	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:152346089T>C	ENST00000359321.1	-	3	566	c.481A>G	c.(481-483)Aat>Gat	p.N161D	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	161					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.N161D(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TCTCCTCCATTGACGCGGTCT	0.413								Homologous recombination																													p.N161D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A481G	7						.						70.0	70.0	70.0					7																	152346089		2203	4300	6503	151977022	SO:0001583	missense	7516	exon3			Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.481A>G	7.37:g.152346089T>C	ENSP00000352271:p.Asn161Asp	Somatic		Capture	Illumina HiSeq	Phase_I	151977022	NM_005431	B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421922	0.43020	.	.	ENSG00000196584	ENST00000359321	T	0.38722	1.12	5.22	5.22	0.72569	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.157651	0.56097	D	0.000030	T	0.44912	0.1316	M	0.65975	2.015	0.42532	D	0.993049	B	0.21452	0.056	B	0.24394	0.053	T	0.46762	-0.9168	10	0.72032	D	0.01	-26.8709	14.2854	0.66243	0.0:0.0:0.0:1.0	.	161	O43543	XRCC2_HUMAN	D	161	ENSP00000352271:N161D	ENSP00000352271:N161D	N	-	1	0	XRCC2	151977022	1.000000	0.71417	0.765000	0.31456	0.632000	0.37999	4.754000	0.62191	1.962000	0.57031	0.383000	0.25322	AAT		0.413	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431	
PAXIP1	22976	broad.mit.edu	37	7	154738255	154738255	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:154738255G>T	ENST00000404141.1	-	19	3254	c.3100C>A	c.(3100-3102)Cat>Aat	p.H1034N	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.H1034N			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1034	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.H1000N(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CGGCATAAATGAAGGTCATTT	0.413																																					p.H1034N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3100A	7						.						63.0	62.0	63.0					7																	154738255		1893	4112	6005	154369188	SO:0001583	missense	22976	exon19			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3100C>A	7.37:g.154738255G>T	ENSP00000384048:p.His1034Asn	Somatic		Capture	Illumina HiSeq	Phase_I	154369188	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411813	0.62511	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.54675	0.56;0.56	5.34	5.34	0.76211	BRCT (1);	0.000000	0.64402	U	0.000019	T	0.62196	0.2408	M	0.62266	1.93	0.80722	D	1	P;P;P	0.49559	0.91;0.925;0.779	P;P;B	0.49361	0.461;0.608;0.208	T	0.65446	-0.6166	10	0.56958	D	0.05	-41.9461	19.077	0.93167	0.0:0.0:1.0:0.0	.	987;1000;1034	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	N	1034;1034;858;987	ENSP00000384048:H1034N;ENSP00000380376:H1034N	ENSP00000319149:H987N	H	-	1	0	PAXIP1	154369188	1.000000	0.71417	0.102000	0.21198	0.719000	0.41307	9.098000	0.94202	2.491000	0.84063	0.555000	0.69702	CAT		0.413	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
PAXIP1	22976	broad.mit.edu	37	7	154746057	154746057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:154746057C>T	ENST00000404141.1	-	16	2883	c.2729G>A	c.(2728-2730)cGc>cAc	p.R910H	RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000473219.1_5'UTR|RP11-5C23.1_ENST00000608064.1_RNA|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R910H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	910	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.R876H(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTCACGGTGCGAGTCACTTT	0.512																																					p.R910H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2729A	7						.						81.0	84.0	83.0					7																	154746057		2096	4225	6321	154376990	SO:0001583	missense	22976	exon16			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2729G>A	7.37:g.154746057C>T	ENSP00000384048:p.Arg910His	Somatic		Capture	Illumina HiSeq	Phase_I	154376990	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138296	0.77775	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	D;D	0.91521	-2.86;-2.86	4.91	4.91	0.64330	BRCT (4);	0.000000	0.49305	U	0.000152	D	0.96781	0.8949	H	0.94345	3.525	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98063	1.0394	10	0.87932	D	0	-27.4365	18.1278	0.89591	0.0:1.0:0.0:0.0	.	863;876;910	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	H	910;910;734;863	ENSP00000384048:R910H;ENSP00000380376:R910H	ENSP00000319149:R863H	R	-	2	0	PAXIP1	154376990	1.000000	0.71417	0.994000	0.49952	0.791000	0.44710	7.531000	0.81973	2.276000	0.75962	0.650000	0.86243	CGC		0.512	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
RNF32	140545	broad.mit.edu	37	7	156447392	156447392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:156447392G>T	ENST00000405335.1	+	5	806	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Nonsense_Mutation_p.E133*|RNF32_ENST00000392743.2_Nonsense_Mutation_p.E133*|RNF32_ENST00000392741.2_Nonsense_Mutation_p.E133*|RNF32_ENST00000343665.4_Nonsense_Mutation_p.E133*|RNF32_ENST00000317955.5_Nonsense_Mutation_p.E133*|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Nonsense_Mutation_p.E133*			Q9H0A6	RNF32_HUMAN	ring finger protein 32	133						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.E133*(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGTAAAGAAGAATTCGAGCT	0.552																																					p.E133X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G397T	7						.						112.0	94.0	100.0					7																	156447392		2203	4300	6503	156140153	SO:0001587	stop_gained	140545	exon4				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.397G>T	7.37:g.156447392G>T	ENSP00000385285:p.Glu133*	Somatic		Capture	Illumina HiSeq	Phase_I	156140153	NM_001184996	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Nonsense_Mutation	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	39	7.454485	0.98296	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	.	.	.	5.34	5.34	0.76211	.	0.092308	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.0344	18.6687	0.91502	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000308894:E133X	E	+	1	0	RNF32	156140153	1.000000	0.71417	0.826000	0.32828	0.267000	0.26476	7.472000	0.80996	2.505000	0.84491	0.655000	0.94253	GAA		0.552	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936	
UBE3C	9690	broad.mit.edu	37	7	156975010	156975010	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:156975010G>A	ENST00000348165.5	+	8	1339	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	UBE3C_ENST00000389103.4_Missense_Mutation_p.E284K	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	327					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E327K(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AACTGTTGGCGAAAATTATTT	0.413																																					p.E327K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	7						.						73.0	71.0	72.0					7																	156975010		2203	4300	6503	156667771	SO:0001583	missense	9690	exon8			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.979G>A	7.37:g.156975010G>A	ENSP00000309198:p.Glu327Lys	Somatic		Capture	Illumina HiSeq	Phase_I	156667771	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262579	0.59431	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.43688	0.94	5.08	5.08	0.68730	.	0.047012	0.85682	D	0.000000	T	0.37489	0.1005	M	0.65975	2.015	0.80722	D	1	B;B;B	0.24092	0.002;0.008;0.097	B;B;B	0.19148	0.003;0.006;0.024	T	0.24333	-1.0163	10	0.06494	T	0.89	.	13.7873	0.63117	0.076:0.0:0.924:0.0	.	327;327;284	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	K	327;284	ENSP00000309198:E327K	ENSP00000309198:E327K	E	+	1	0	UBE3C	156667771	1.000000	0.71417	0.564000	0.28396	0.902000	0.53008	7.209000	0.77916	2.366000	0.80165	0.455000	0.32223	GAA		0.413	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
PTPRN2	5799	broad.mit.edu	37	7	157929349	157929349	+	Nonsense_Mutation	SNP	C	C	A	rs567977988		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:157929349C>A	ENST00000389418.4	-	8	1180	c.1171G>T	c.(1171-1173)Gag>Tag	p.E391*	PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.E374*|PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.E353*|PTPRN2_ENST00000389413.3_Nonsense_Mutation_p.E391*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.E414*	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	391					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E391*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATCTTACCTCTTGGTAAAGT	0.408																																					p.E391X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1171T	7						.						182.0	141.0	155.0					7																	157929349		2203	4300	6503	157622110	SO:0001587	stop_gained	5799	exon8			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1171G>T	7.37:g.157929349C>A	ENSP00000374069:p.Glu391*	Somatic		Capture	Illumina HiSeq	Phase_I	157622110	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Nonsense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421524	0.83559	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	.	.	.	4.54	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	6.7799	0.23640	0.0:0.7129:0.1837:0.1034	.	.	.	.	X	353;391;374;391;414	.	ENSP00000374064:E391X	E	-	1	0	PTPRN2	157622110	0.115000	0.22152	0.765000	0.31456	0.088000	0.18126	0.120000	0.15647	1.003000	0.39130	0.555000	0.69702	GAG		0.408	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
SDK1	221935	broad.mit.edu	37	7	4153057	4153057	+	Missense_Mutation	SNP	C	C	T	rs78059548	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:4153057C>T	ENST00000404826.2	+	24	3710	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	SDK1_ENST00000389531.3_Missense_Mutation_p.R1191W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1191	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R1191W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCAGCCTGCGGCTTCGCTG	0.642													C|||	5	0.000998403	0.0008	0.0	5008	,	,		16426	0.004		0.0	False		,,,				2504	0.0				p.R1191W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3571T	7						.						79.0	85.0	83.0					7																	4153057		2203	4300	6503	4119583	SO:0001583	missense	221935	exon24			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3571C>T	7.37:g.4153057C>T	ENSP00000385899:p.Arg1191Trp	Somatic		Capture	Illumina HiSeq	Phase_I	4119583	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	13.10	2.137209	0.37728	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58210	0.35;0.35	5.22	3.16	0.36331	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220091	0.32357	N	0.006210	T	0.29061	0.0722	N	0.13043	0.29	0.37530	D	0.917896	B;B	0.17852	0.002;0.024	B;B	0.16722	0.004;0.016	T	0.09596	-1.0667	10	0.37606	T	0.19	.	2.7667	0.05322	0.2029:0.3887:0.0:0.4084	.	1191;1191	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	1191	ENSP00000385899:R1191W;ENSP00000374182:R1191W	ENSP00000374182:R1191W	R	+	1	2	SDK1	4119583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.512000	0.35812	0.459000	0.27016	0.655000	0.94253	CGG		0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
PAPOLB	56903	broad.mit.edu	37	7	4900716	4900716	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:4900716T>G	ENST00000404991.1	-	1	909	c.723A>C	c.(721-723)ttA>ttC	p.L241F	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	241					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L241F(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGAGGAAACCTAATATATTGG	0.428																																					p.L242F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A726C	7						.						94.0	98.0	97.0					7																	4900716		2203	4300	6503	4867242	SO:0001583	missense	56903	exon1			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.723A>C	7.37:g.4900716T>G	ENSP00000384700:p.Leu241Phe	Somatic		Capture	Illumina HiSeq	Phase_I	4867242	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	T	15.26	2.779715	0.49891	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.12	0.216	0.15258	.	.	.	.	.	T	0.60130	0.2245	L	0.61387	1.9	0.49687	D	0.99981	D	0.89917	1.0	D	0.77557	0.99	T	0.59369	-0.7467	8	0.87932	D	0	.	1.4959	0.02466	0.1726:0.1044:0.3548:0.3681	.	242	A4D1Z6	.	F	241	.	ENSP00000384700:L241F	L	-	3	2	PAPOLB	4867242	0.992000	0.36948	0.988000	0.46212	0.951000	0.60555	0.234000	0.17930	0.041000	0.15688	0.482000	0.46254	TTA		0.428	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
ANKMY2	57037	broad.mit.edu	37	7	16640464	16640464	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:16640464C>A	ENST00000306999.2	-	10	1491	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	416						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.K416N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGATTCTTTCTTTCCTTCCC	0.463																																					p.K416N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1248T	7						.						86.0	81.0	83.0					7																	16640464		2203	4300	6503	16606989	SO:0001583	missense	57037	exon10			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1248G>T	7.37:g.16640464C>A	ENSP00000303570:p.Lys416Asn	Somatic		Capture	Illumina HiSeq	Phase_I	16606989	NM_020319	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278645	0.23307	.	.	ENSG00000106524	ENST00000306999	T	0.72505	-0.66	4.97	1.9	0.25705	.	0.669719	0.15883	N	0.239930	T	0.51787	0.1695	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43458	-0.9390	10	0.45353	T	0.12	-14.185	7.9057	0.29761	0.1748:0.4862:0.339:0.0	.	416	Q8IV38	ANKY2_HUMAN	N	416	ENSP00000303570:K416N	ENSP00000303570:K416N	K	-	3	2	ANKMY2	16606989	0.000000	0.05858	0.012000	0.15200	0.199000	0.23934	-0.093000	0.11111	0.743000	0.32719	0.655000	0.94253	AAG		0.463	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319	
HDAC9	9734	broad.mit.edu	37	7	18875180	18875180	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:18875180T>G	ENST00000432645.2	+	19	2548	c.2548T>G	c.(2548-2550)Ttt>Gtt	p.F850V	HDAC9_ENST00000401921.1_Missense_Mutation_p.F809V|HDAC9_ENST00000441542.2_Missense_Mutation_p.F853V|HDAC9_ENST00000406451.4_Missense_Mutation_p.F850V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	850	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.F853V(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGGGAACTTTTTCCCTGG	0.458																																					p.F850V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2548G	7						.						71.0	72.0	71.0					7																	18875180		2053	4244	6297	18841705	SO:0001583	missense	9734	exon20			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2548T>G	7.37:g.18875180T>G	ENSP00000410337:p.Phe850Val	Somatic		Capture	Illumina HiSeq	Phase_I	18841705	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516232	0.64634	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.72	4.52	0.55395	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000020	D	0.89030	0.6599	H	0.98111	4.15	0.80722	D	1	P;D;P;P;P;P	0.89917	0.928;1.0;0.847;0.847;0.874;0.847	D;D;P;P;P;P	0.97110	0.949;1.0;0.576;0.576;0.701;0.576	D	0.91866	0.5503	10	0.87932	D	0	-6.2425	11.5303	0.50604	0.1334:0.0:0.0:0.8666	.	850;98;809;853;850;850	Q9UKV0-4;Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;.;HDAC9_HUMAN;.	V	850;809;850;853;762	ENSP00000384657:F850V;ENSP00000383912:F809V;ENSP00000410337:F850V;ENSP00000408617:F853V	ENSP00000339165:F762V	F	+	1	0	HDAC9	18841705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.170000	0.71920	2.189000	0.69895	0.533000	0.62120	TTT		0.458	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
TWISTNB	221830	broad.mit.edu	37	7	19737998	19737998	+	Missense_Mutation	SNP	C	C	T	rs61734275	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:19737998C>T	ENST00000222567.5	-	4	1028	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	320	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.E320K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGGGTAAATTCGGCCTCTTCA	0.368													C|||	10	0.00199681	0.0076	0.0	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.0				p.E320K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	7						.	C	LYS/GLU	27,4377	30.8+/-60.4	0,27,2175	93.0	102.0	99.0		958	5.5	0.4	7	dbSNP_129	99	2,8598	1.2+/-3.3	0,2,4298	yes	missense	TWISTNB	NM_001002926.1	56	0,29,6473	TT,TC,CC		0.0233,0.6131,0.223	possibly-damaging	320/339	19737998	29,12975	2202	4300	6502	19704523	SO:0001583	missense	221830	exon4			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.958G>A	7.37:g.19737998C>T	ENSP00000222567:p.Glu320Lys	Somatic		Capture	Illumina HiSeq	Phase_I	19704523	NM_001002926	A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	CCDS34606.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.62	2.588868	0.46110	0.006131	2.33E-4	ENSG00000105849	ENST00000222567	.	.	.	5.47	5.47	0.80525	.	0.743446	0.13807	N	0.361369	T	0.26159	0.0638	L	0.44542	1.39	0.09310	N	1	D	0.58970	0.984	B	0.40636	0.335	T	0.25882	-1.0119	9	0.59425	D	0.04	-8.7148	14.8742	0.70483	0.0:0.8568:0.1432:0.0	.	320	Q3B726	RPA43_HUMAN	K	320	.	ENSP00000222567:E320K	E	-	1	0	TWISTNB	19704523	0.899000	0.30636	0.420000	0.26596	0.465000	0.32709	2.830000	0.48136	2.568000	0.86640	0.484000	0.47621	GAA		0.368	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		
MACC1	346389	broad.mit.edu	37	7	20199623	20199623	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:20199623C>A	ENST00000400331.5	-	5	669	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	MACC1_ENST00000589011.1_Missense_Mutation_p.D121Y|MACC1_ENST00000332878.4_Missense_Mutation_p.D121Y	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	121					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D121Y(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGATGCACATCAAGTTCATCA	0.368																																					p.D121Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361T	7						.						54.0	51.0	52.0					7																	20199623		2203	4300	6503	20166148	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.361G>T	7.37:g.20199623C>A	ENSP00000383185:p.Asp121Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	20166148	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834078	0.32421	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10668	2.85;2.85	5.97	3.87	0.44632	.	0.424874	0.29369	N	0.012350	T	0.18173	0.0436	L	0.47716	1.5	0.09310	N	0.999993	P	0.49447	0.924	P	0.52710	0.707	T	0.02244	-1.1189	10	0.62326	D	0.03	-11.1675	12.1557	0.54074	0.0:0.7731:0.0:0.2269	.	121	Q6ZN28	MACC1_HUMAN	Y	121	ENSP00000383185:D121Y;ENSP00000328410:D121Y	ENSP00000328410:D121Y	D	-	1	0	MACC1	20166148	0.269000	0.24143	0.523000	0.27875	0.779000	0.44077	0.597000	0.24059	1.543000	0.49345	0.585000	0.79938	GAT		0.368	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ITGB8	3696	broad.mit.edu	37	7	20441715	20441715	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:20441715T>A	ENST00000222573.4	+	10	2337	c.1653T>A	c.(1651-1653)ttT>ttA	p.F551L	ITGB8_ENST00000537992.1_Missense_Mutation_p.F416L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	551	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.F551L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGATGACTTTTCTTGTCCAT	0.373																																					p.F551L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1653A	7						.						102.0	106.0	105.0					7																	20441715		2203	4300	6503	20408240	SO:0001583	missense	3696	exon10				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1653T>A	7.37:g.20441715T>A	ENSP00000222573:p.Phe551Leu	Somatic		Capture	Illumina HiSeq	Phase_I	20408240	NM_002214	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391339	0.83011	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97352	-4.35;-4.35	6.06	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.77616	2.38	0.53005	D	0.999967	D	0.89917	1.0	D	0.83275	0.996	D	0.96887	0.9650	10	0.72032	D	0.01	.	9.3428	0.38089	0.0:0.2034:0.0:0.7966	.	551	P26012	ITB8_HUMAN	L	416;551	ENSP00000441561:F416L;ENSP00000222573:F551L	ENSP00000222573:F551L	F	+	3	2	ITGB8	20408240	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.661000	0.25023	0.189000	0.20188	0.533000	0.62120	TTT		0.373	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
ABCB5	340273	broad.mit.edu	37	7	20682911	20682911	+	Missense_Mutation	SNP	G	G	A	rs368226947		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:20682911G>A	ENST00000404938.2	+	6	1071	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	140	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGAGGATTCGAAAACAGTTT	0.418																																					p.R140Q												.	.	0			c.G419A	7						.	G	GLN/ARG	1,3135		0,1,1567	97.0	83.0	87.0		419	1.9	1.0	7		87	0,7164		0,0,3582	no	missense	ABCB5	NM_001163941.1	43	0,1,5149	AA,AG,GG		0.0,0.0319,0.0097	probably-damaging	140/1258	20682911	1,10299	1568	3582	5150	20649436	SO:0001583	missense	340273	exon6			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.419G>A	7.37:g.20682911G>A	ENSP00000384881:p.Arg140Gln	Somatic		Capture	Illumina HiSeq	Phase_I	20649436	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739399	0.49045	3.19E-4	0.0	ENSG00000004846	ENST00000404938	D	0.86694	-2.16	3.75	1.9	0.25705	.	.	.	.	.	D	0.91673	0.7368	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	D	0.90736	0.4646	9	0.87932	D	0	.	8.5678	0.33550	0.2017:0.0:0.7983:0.0	.	140	A7BKA4	.	Q	140	ENSP00000384881:R140Q	ENSP00000384881:R140Q	R	+	2	0	ABCB5	20649436	0.982000	0.34865	0.999000	0.59377	0.425000	0.31504	4.947000	0.63583	0.555000	0.29079	0.563000	0.77884	CGA		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
DNAH11	8701	broad.mit.edu	37	7	21599384	21599384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:21599384G>T	ENST00000409508.3	+	4	887	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E286*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	286	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E286*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATGAGGAGAGAAAATCTGTC	0.348									Kartagener syndrome																												p.E286X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G856T	7						.						58.0	54.0	55.0					7																	21599384		1862	4089	5951	21565909	SO:0001587	stop_gained	8701	exon4	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.856G>T	7.37:g.21599384G>T	ENSP00000475939:p.Glu286*	Somatic		Capture	Illumina HiSeq	Phase_I	21565909	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	38	6.936970	0.97948	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.93	5.04	0.67666	.	0.432742	0.24642	N	0.036790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	16.2243	0.82283	0.0:0.1332:0.8668:0.0	.	.	.	.	X	286	.	ENSP00000330671:E286X	E	+	1	0	DNAH11	21565909	1.000000	0.71417	0.915000	0.36163	0.945000	0.59286	4.702000	0.61817	1.477000	0.48234	0.563000	0.77884	GAA		0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21765496	21765496	+	Missense_Mutation	SNP	C	C	T	rs180970138		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:21765496C>T	ENST00000409508.3	+	45	7365	c.7334C>T	c.(7333-7335)tCg>tTg	p.S2445L	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2452L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2452					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2452L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATTTCCGTCGCAGGGAACA	0.408									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		17046	0.0		0.0	False		,,,				2504	0.0				p.V2452V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7356T	7						.						99.0	97.0	98.0					7																	21765496		1827	4088	5915	21732021	SO:0001583	missense	8701	exon45	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7334C>T	7.37:g.21765496C>T	ENSP00000475939:p.Ser2445Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21732021	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.31	3.802823	0.70682	.	.	ENSG00000105877	ENST00000328843	T	0.25250	1.81	5.73	4.85	0.62838	.	0.119524	0.64402	D	0.000019	T	0.20455	0.0492	.	.	.	0.43368	D	0.995456	P	0.50443	0.935	B	0.36335	0.222	T	0.02632	-1.1131	9	0.48119	T	0.1	.	13.526	0.61594	0.0:0.924:0.0:0.076	.	2452	Q96DT5	DYH11_HUMAN	L	2452	ENSP00000330671:S2452L	ENSP00000330671:S2452L	S	+	2	0	DNAH11	21732021	0.750000	0.28316	1.000000	0.80357	0.990000	0.78478	3.663000	0.54518	1.426000	0.47256	0.655000	0.94253	TCG		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21805073	21805073	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:21805073C>T	ENST00000409508.3	+	55	8999	c.8968C>T	c.(8968-8970)Cgc>Tgc	p.R2990C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2997C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2997	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2997C(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCAGTTGGTCGCACGCTGAG	0.517									Kartagener syndrome																												p.S2997L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8990T	7						.						168.0	163.0	165.0					7																	21805073		2033	4199	6232	21771598	SO:0001583	missense	8701	exon55	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8968C>T	7.37:g.21805073C>T	ENSP00000475939:p.Arg2990Cys	Somatic		Capture	Illumina HiSeq	Phase_I	21771598	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	14.58	2.578067	0.45902	.	.	ENSG00000105877	ENST00000328843	T	0.43294	0.95	5.76	4.88	0.63580	Dynein heavy chain, P-loop containing D4 domain (1);	0.296408	0.36703	N	0.002448	T	0.28400	0.0702	.	.	.	0.24320	N	0.995043	B	0.02656	0.0	B	0.01281	0.0	T	0.11941	-1.0567	9	0.72032	D	0.01	.	4.5522	0.12117	0.0:0.6093:0.1813:0.2094	.	2997	Q96DT5	DYH11_HUMAN	C	2997	ENSP00000330671:R2997C	ENSP00000330671:R2997C	R	+	1	0	DNAH11	21771598	0.953000	0.32496	0.997000	0.53966	0.989000	0.77384	1.837000	0.39201	2.719000	0.93026	0.555000	0.69702	CGC		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
CDCA7L	55536	broad.mit.edu	37	7	21948053	21948053	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:21948053C>A	ENST00000406877.3	-	4	655	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.D92Y|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D80Y	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	126					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D126Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTAGCCTTATCTTCTTCTTCA	0.438																																					p.D80Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238T	7						.						109.0	97.0	101.0					7																	21948053		2203	4300	6503	21914578	SO:0001583	missense	55536	exon3				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.376G>T	7.37:g.21948053C>A	ENSP00000383986:p.Asp126Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21914578	NM_001127371	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551032	0.45383	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951;ENST00000447180;ENST00000435031	T;T;T;T	0.48836	0.8;0.84;0.87;0.9	4.49	4.49	0.54785	.	1.113110	0.06685	N	0.768707	T	0.25531	0.0621	N	0.08118	0	0.30419	N	0.778342	P;B;P;P	0.37864	0.476;0.012;0.476;0.61	B;B;B;B	0.28139	0.04;0.003;0.04;0.086	T	0.09885	-1.0654	10	0.62326	D	0.03	-7.475	6.4281	0.21780	0.0:0.8381:0.0:0.1619	.	126;80;126;125	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	Y	92;126;80;79;91;92	ENSP00000348523:D92Y;ENSP00000383986:D126Y;ENSP00000363045:D80Y;ENSP00000406616:D79Y	ENSP00000348523:D92Y	D	-	1	0	CDCA7L	21914578	0.803000	0.28956	0.283000	0.24790	0.563000	0.35712	0.372000	0.20467	2.316000	0.78162	0.603000	0.83216	GAT		0.438	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
GPNMB	10457	broad.mit.edu	37	7	23296600	23296600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:23296600C>A	ENST00000381990.2	+	4	618	c.457C>A	c.(457-459)Cat>Aat	p.H153N	GPNMB_ENST00000258733.4_Missense_Mutation_p.H153N|GPNMB_ENST00000409458.3_Missense_Mutation_p.H153N|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000539136.1_Missense_Mutation_p.H54N	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	153					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.H153N(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CCAAAGCCATCATAACGTCTT	0.483																																					p.H153N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C457A	7						.						138.0	116.0	124.0					7																	23296600		2203	4300	6503	23263125	SO:0001583	missense	10457	exon4			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.457C>A	7.37:g.23296600C>A	ENSP00000371420:p.His153Asn	Somatic		Capture	Illumina HiSeq	Phase_I	23263125	NM_001005340	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	9.273	1.046094	0.19748	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.29	3.37	0.38596	.	0.311233	0.30999	N	0.008446	T	0.26738	0.0654	M	0.80028	2.48	0.28773	N	0.900255	D;D;B;D	0.67145	0.996;0.994;0.021;0.982	P;P;B;P	0.61070	0.883;0.69;0.037;0.81	T	0.15521	-1.0434	10	0.07990	T	0.79	-10.4101	7.5399	0.27731	0.2879:0.6336:0.0:0.0785	.	54;153;153;153	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	N	153;188;153;153;54	ENSP00000258733:H153N;ENSP00000371420:H153N;ENSP00000386476:H153N;ENSP00000445266:H54N	ENSP00000258733:H153N	H	+	1	0	GPNMB	23263125	0.388000	0.25197	0.007000	0.13788	0.007000	0.05969	1.329000	0.33770	0.627000	0.30340	0.655000	0.94253	CAT		0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
MALSU1	115416	broad.mit.edu	37	7	23340624	23340624	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:23340624C>T	ENST00000466681.1	+	2	576	c.423C>T	c.(421-423)taC>taT	p.Y141Y		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	141					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)		p.Y141Y(1)									TGGCCTTCTACGTTGTGAAAA	0.418																																					p.Y141Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	7						.						222.0	198.0	206.0					7																	23340624		2203	4300	6503	23307149	SO:0001819	synonymous_variant	115416	exon2			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.423C>T	7.37:g.23340624C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23307149	NM_138446	A4D154	Silent	SNP	ENST00000466681.1	37	CCDS5381.1																																																																																				0.418	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446	
IGF2BP3	10643	broad.mit.edu	37	7	23352366	23352366	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:23352366G>T	ENST00000258729.3	-	14	1985	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	543	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.F543L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGCAAGCATAGAAGTGACCAG	0.428																																					p.F543L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1629A	7						.						59.0	51.0	54.0					7																	23352366		2203	4300	6503	23318891	SO:0001583	missense	10643	exon14			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1629C>A	7.37:g.23352366G>T	ENSP00000258729:p.Phe543Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23318891	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824536	0.90955	.	.	ENSG00000136231	ENST00000258729	T	0.28666	1.6	5.77	2.92	0.33932	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.55743	1.74	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.16748	-1.0392	10	0.17832	T	0.49	-0.0646	10.6837	0.45830	0.1988:0.0:0.8012:0.0	.	543	O00425	IF2B3_HUMAN	L	543	ENSP00000258729:F543L	ENSP00000258729:F543L	F	-	3	2	IGF2BP3	23318891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.125000	0.57931	0.331000	0.23511	0.655000	0.94253	TTC		0.428	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
IGF2BP3	10643	broad.mit.edu	37	7	23508153	23508153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:23508153C>A	ENST00000258729.3	-	2	540	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.E62*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CCGTGCAGTTCTATTTTACCT	0.557																																					p.E62X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G184T	7						.						203.0	191.0	195.0					7																	23508153		2203	4300	6503	23474678	SO:0001587	stop_gained	10643	exon2			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.184G>T	7.37:g.23508153C>A	ENSP00000258729:p.Glu62*	Somatic		Capture	Illumina HiSeq	Phase_I	23474678	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Nonsense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	42	9.433530	0.99169	.	.	ENSG00000136231	ENST00000258729	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.9761	19.3235	0.94252	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000258729:E62X	E	-	1	0	IGF2BP3	23474678	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.721000	0.84768	2.627000	0.88993	0.650000	0.86243	GAA		0.557	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
STK31	56164	broad.mit.edu	37	7	23854767	23854767	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:23854767C>A	ENST00000355870.3	+	23	2884	c.2765C>A	c.(2764-2766)tCt>tAt	p.S922Y	STK31_ENST00000354639.3_Missense_Mutation_p.S899Y|STK31_ENST00000433467.2_Intron|STK31_ENST00000428484.1_Missense_Mutation_p.S899Y|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	922	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.S922Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCACAGCTTTCTGTTCAAAAT	0.353																																					p.S899Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2696A	7						.						103.0	102.0	102.0					7																	23854767		2203	4300	6503	23821292	SO:0001583	missense	56164	exon23			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2765C>A	7.37:g.23854767C>A	ENSP00000348132:p.Ser922Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	23821292	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	0.757	-0.770634	0.02974	.	.	ENSG00000196335	ENST00000355870;ENST00000354639;ENST00000428484	T;T;T	0.73363	-0.74;-0.74;-0.74	4.61	1.61	0.23674	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.413451	0.23413	N	0.048444	T	0.57272	0.2042	N	0.22421	0.69	0.23386	N	0.997786	B;B	0.18610	0.029;0.029	B;B	0.30029	0.11;0.055	T	0.49254	-0.8959	10	0.48119	T	0.1	-1.1481	4.4135	0.11445	0.0:0.6098:0.1853:0.2049	.	922;922	A4D159;Q9BXU1	.;STK31_HUMAN	Y	922;899;899	ENSP00000348132:S922Y;ENSP00000346660:S899Y;ENSP00000406146:S899Y	ENSP00000346660:S899Y	S	+	2	0	STK31	23821292	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	0.111000	0.15458	0.673000	0.31224	0.555000	0.69702	TCT		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
CBX3	11335	broad.mit.edu	37	7	26251734	26251734	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:26251734C>T	ENST00000337620.4	+	6	886	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CBX3_ENST00000396386.2_Missense_Mutation_p.A153V|CBX3_ENST00000409747.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	153	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)	p.A153V(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTGGTGCTGGCGAAAGAGGCA	0.373																																					p.A153V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C458T	7						.						78.0	78.0	78.0					7																	26251734		2203	4300	6503	26218259	SO:0001583	missense	11335	exon6			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.458C>T	7.37:g.26251734C>T	ENSP00000336687:p.Ala153Val	Somatic		Capture	Illumina HiSeq	Phase_I	26218259	NM_007276	Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Missense_Mutation	SNP	ENST00000337620.4	37	CCDS5398.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734022	0.89482	.	.	ENSG00000122565	ENST00000337620;ENST00000396386	T;T	0.51817	0.69;0.69	5.4	5.4	0.78164	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.90922	3.16	0.80722	D	1	P	0.45594	0.862	P	0.49301	0.606	T	0.77153	-0.2692	10	0.87932	D	0	.	19.5206	0.95183	0.0:1.0:0.0:0.0	.	153	Q13185	CBX3_HUMAN	V	153	ENSP00000336687:A153V;ENSP00000379670:A153V	ENSP00000336687:A153V	A	+	2	0	CBX3	26218259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.737000	0.84957	2.678000	0.91216	0.655000	0.94253	GCG		0.373	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276	
HOXA4	3201	broad.mit.edu	37	7	27168950	27168950	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:27168950G>A	ENST00000360046.5	-	2	922	c.857C>T	c.(856-858)tCg>tTg	p.S286L	HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.S286L|HOXA-AS2_ENST00000517550.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521687.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	286					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S286L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGCCGAGGCCGAATTGGAGGA	0.592																																					p.S286L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857T	7						.						249.0	211.0	224.0					7																	27168950		2203	4300	6503	27135475	SO:0001583	missense	3201	exon2				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.857C>T	7.37:g.27168950G>A	ENSP00000353151:p.Ser286Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27135475	NM_002141	A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672754	0.47781	.	.	ENSG00000197576	ENST00000360046;ENST00000428284	D;D	0.87809	-2.3;-2.3	5.17	5.17	0.71159	.	0.749348	0.11049	N	0.605203	T	0.81569	0.4850	L	0.44542	1.39	0.33277	D	0.561749	P	0.40066	0.701	B	0.28385	0.089	D	0.85106	0.0960	10	0.54805	T	0.06	.	14.5379	0.67973	0.0:0.0:0.8441:0.1559	.	286	Q00056	HXA4_HUMAN	L	286	ENSP00000353151:S286L;ENSP00000408845:S286L	ENSP00000353151:S286L	S	-	2	0	HOXA4	27135475	1.000000	0.71417	0.953000	0.39169	0.903000	0.53119	5.840000	0.69402	2.420000	0.82092	0.555000	0.69702	TCG		0.592	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4		
PLEKHA8	84725	broad.mit.edu	37	7	30092464	30092464	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:30092464A>G	ENST00000449726.1	+	7	1128	c.778A>G	c.(778-780)Aca>Gca	p.T260A	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.T260A|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.T260A|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.T260A	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	260					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.T260A(1)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TGAGGAAAATACAGATGATAA	0.294																																					p.T260A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A778G	7						.						36.0	34.0	34.0					7																	30092464		2186	4295	6481	30058989	SO:0001583	missense	84725	exon7			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.778A>G	7.37:g.30092464A>G	ENSP00000397947:p.Thr260Ala	Somatic		Capture	Illumina HiSeq	Phase_I	30058989	NM_001197027	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351316	0.24512	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.85	1.95	0.26073	.	0.780742	0.12066	N	0.502699	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18741	0.004;0.002;0.03;0.002	B;B;B;B	0.17979	0.02;0.009;0.014;0.006	T	0.21724	-1.0237	9	0.23302	T	0.38	-12.5719	4.7167	0.12898	0.6192:0.0:0.087:0.2937	.	260;260;260;260	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	A	260;260;260;260;286	.	ENSP00000258679:T260A	T	+	1	0	PLEKHA8	30058989	0.001000	0.12720	0.966000	0.40874	0.998000	0.95712	0.418000	0.21230	1.020000	0.39573	0.533000	0.62120	ACA		0.294	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639	
CRHR2	1395	broad.mit.edu	37	7	30702362	30702362	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:30702362C>A	ENST00000471646.1	-	6	1062	c.645G>T	c.(643-645)atG>atT	p.M215I	CRHR2_ENST00000348438.4_Missense_Mutation_p.M242I|CRHR2_ENST00000506074.2_Missense_Mutation_p.M215I|CRHR2_ENST00000341843.4_Missense_Mutation_p.M201I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	215					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.M215I(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAGTAGGTCATGACAATGG	0.572																																					p.M215I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645T	7						.						126.0	101.0	109.0					7																	30702362		2203	4300	6503	30668887	SO:0001583	missense	1395	exon6				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.645G>T	7.37:g.30702362C>A	ENSP00000418722:p.Met215Ile	Somatic		Capture	Illumina HiSeq	Phase_I	30668887	NM_001883	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173350	0.57584	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	N	0.20483	0.58	0.80722	D	1	B;B;B;B;B	0.23249	0.03;0.082;0.024;0.024;0.03	B;B;B;B;B	0.29663	0.063;0.105;0.037;0.037;0.063	T	0.06127	-1.0844	10	0.17832	T	0.49	.	17.0535	0.86526	0.0:1.0:0.0:0.0	.	214;215;242;201;215	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	I	215;242;201;215	ENSP00000418722:M215I;ENSP00000340943:M242I;ENSP00000344304:M201I;ENSP00000426498:M215I	ENSP00000344304:M201I	M	-	3	0	CRHR2	30668887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.183000	0.32041	2.717000	0.92951	0.655000	0.94253	ATG		0.572	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		
INMT	11185	broad.mit.edu	37	7	30793366	30793366	+	Silent	SNP	G	G	A	rs199553396		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:30793366G>A	ENST00000013222.5	+	2	190	c.174G>A	c.(172-174)acG>acA	p.T58T	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Silent_p.T57T|INMT-FAM188B_ENST00000458257.1_Silent_p.T57T	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	58					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.T58T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AAGGGGACACGCTGATTGACA	0.542																																					p.T58T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	7						.						275.0	254.0	261.0					7																	30793366		2203	4300	6503	30759891	SO:0001819	synonymous_variant	11185	exon2				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.174G>A	7.37:g.30793366G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30759891	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																				0.542	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774	
FAM188B	84182	broad.mit.edu	37	7	30818127	30818127	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:30818127G>A	ENST00000265299.6	+	2	220	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	48								p.R48Q(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATGATCTTCGAAAGGTTTTG	0.453																																					p.R48Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G143A	7						.						121.0	118.0	119.0					7																	30818127		1945	4141	6086	30784652	SO:0001583	missense	84182	exon2			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.143G>A	7.37:g.30818127G>A	ENSP00000265299:p.Arg48Gln	Somatic		Capture	Illumina HiSeq	Phase_I	30784652	NM_032222	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505637	0.85282	.	.	ENSG00000106125	ENST00000265299	T	0.24908	1.83	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.74881	2.28	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.52808	-0.8526	10	0.87932	D	0	-1.0205	12.7199	0.57136	0.0:0.0:1.0:0.0	.	48	Q4G0A6	F188B_HUMAN	Q	48	ENSP00000265299:R48Q	ENSP00000265299:R48Q	R	+	2	0	FAM188B	30784652	0.993000	0.37304	0.994000	0.49952	0.970000	0.65996	5.643000	0.67895	2.469000	0.83416	0.561000	0.74099	CGA		0.453	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
PPP1R17	10842	broad.mit.edu	37	7	31736606	31736606	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:31736606G>T	ENST00000342032.3	+	4	891	c.263G>T	c.(262-264)aGa>aTa	p.R88I	PPP1R17_ENST00000409146.3_Missense_Mutation_p.R37I|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	88					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.R88I(1)									TTAATTAAAAGATACGATGTT	0.393																																					p.R88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	7						.						95.0	92.0	93.0					7																	31736606		2203	4300	6503	31703131	SO:0001583	missense	10842	exon4			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.263G>T	7.37:g.31736606G>T	ENSP00000340125:p.Arg88Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31703131	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921051	0.52653	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.37584	1.19;1.42	5.63	4.69	0.59074	.	0.215495	0.41294	D	0.000916	T	0.45013	0.1321	L	0.51422	1.61	0.53688	D	0.999974	P;P	0.41131	0.739;0.571	P;B	0.48400	0.576;0.284	T	0.42732	-0.9434	10	0.72032	D	0.01	-9.9099	16.0143	0.80425	0.0:0.1346:0.8654:0.0	.	37;88	B4DE58;O96001	.;PPR17_HUMAN	I	88;37	ENSP00000340125:R88I;ENSP00000386459:R37I	ENSP00000340125:R88I	R	+	2	0	C7orf16	31703131	1.000000	0.71417	0.977000	0.42913	0.492000	0.33523	3.872000	0.56085	2.802000	0.96397	0.563000	0.77884	AGA		0.393	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	
FKBP9	11328	broad.mit.edu	37	7	33044913	33044913	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:33044913G>A	ENST00000242209.4	+	10	1832	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	FKBP9_ENST00000538443.1_Missense_Mutation_p.A417T|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.A323T|FKBP9_ENST00000538336.1_Missense_Mutation_p.A608T	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	555	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A555T(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GAAGGTCACAGCCGAGGAATT	0.507																																					p.A555T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1663A	7						.						210.0	151.0	171.0					7																	33044913		2203	4300	6503	33011438	SO:0001583	missense	11328	exon10			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1663G>A	7.37:g.33044913G>A	ENSP00000242209:p.Ala555Thr	Somatic		Capture	Illumina HiSeq	Phase_I	33011438	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674600	0.47781	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.55930	0.49;0.49;0.49;0.88	5.07	5.07	0.68467	EF-hand-like domain (1);	0.055636	0.64402	D	0.000001	T	0.47764	0.1463	L	0.46157	1.445	0.44048	D	0.996788	P;P;P	0.44627	0.549;0.839;0.599	B;B;B	0.38880	0.272;0.218;0.284	T	0.48328	-0.9045	10	0.33940	T	0.23	-3.2543	18.4683	0.90763	0.0:0.0:1.0:0.0	.	323;608;555	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	T	555;608;417;323	ENSP00000242209:A555T;ENSP00000439250:A608T;ENSP00000437504:A417T;ENSP00000441317:A323T	ENSP00000242209:A555T	A	+	1	0	FKBP9	33011438	0.988000	0.35896	0.370000	0.25965	0.253000	0.25986	4.609000	0.61148	2.371000	0.80710	0.555000	0.69702	GCC		0.507	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
NT5C3A	51251	broad.mit.edu	37	7	33055449	33055449	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:33055449G>T	ENST00000242210.7	-	8	818	c.742C>A	c.(742-744)Cat>Aat	p.H248N	NT5C3A_ENST00000409467.1_Missense_Mutation_p.H197N|NT5C3A_ENST00000381626.2_Missense_Mutation_p.H197N|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000396152.2_Missense_Mutation_p.H209N|NT5C3A_ENST00000405342.1_Missense_Mutation_p.H209N|NT5C3A_ENST00000610140.1_Missense_Mutation_p.H243N	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	248					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.H248N(1)									TTAAATACATGAATTAGTTCT	0.313																																					p.H209N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C625A	7						.						65.0	66.0	65.0					7																	33055449		2203	4299	6502	33021974	SO:0001583	missense	51251	exon9			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.742C>A	7.37:g.33055449G>T	ENSP00000242210:p.His248Asn	Somatic		Capture	Illumina HiSeq	Phase_I	33021974	NM_016489	A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800979	0.90538	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.65	5.65	0.86999	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.91038	3.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	D	0.95662	0.8716	10	0.51188	T	0.08	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	248;209	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	N	197;209;248;209;197	ENSP00000371039:H197N;ENSP00000379456:H209N;ENSP00000242210:H248N;ENSP00000385261:H209N;ENSP00000387166:H197N	ENSP00000242210:H248N	H	-	1	0	NT5C3	33021974	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.692000	0.98682	2.659000	0.90383	0.655000	0.94253	CAT		0.313	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	
BBS9	27241	broad.mit.edu	37	7	33573597	33573597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:33573597C>T	ENST00000242067.6	+	21	2851	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	BBS9_ENST00000355070.2_Missense_Mutation_p.S772F|BBS9_ENST00000350941.3_Missense_Mutation_p.S737F|BBS9_ENST00000354265.4_Missense_Mutation_p.S742F|BBS9_ENST00000396127.2_Missense_Mutation_p.S742F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	777					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S777F(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCCGCCATTTCCCACCTGTTG	0.438									Bardet-Biedl syndrome																												p.S772F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2315T	7						.						151.0	148.0	149.0					7																	33573597		2203	4300	6503	33540122	SO:0001583	missense	27241	exon20	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2330C>T	7.37:g.33573597C>T	ENSP00000242067:p.Ser777Phe	Somatic		Capture	Illumina HiSeq	Phase_I	33540122	NM_001033605	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660282	0.88154	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.75	5.75	0.90469	.	0.064498	0.64402	D	0.000006	T	0.27594	0.0678	L	0.58101	1.795	0.80722	D	1	P;P;P;P;P	0.48764	0.725;0.828;0.828;0.828;0.915	P;P;P;P;P	0.50136	0.532;0.632;0.532;0.632;0.632	T	0.00361	-1.1789	10	0.87932	D	0	-6.5028	19.9522	0.97203	0.0:1.0:0.0:0.0	.	777;737;772;742;777	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	F	777;737;742;772;742;777	ENSP00000242067:S777F;ENSP00000313122:S737F;ENSP00000379433:S742F;ENSP00000347182:S772F;ENSP00000346214:S742F	ENSP00000242067:S777F	S	+	2	0	BBS9	33540122	1.000000	0.71417	0.897000	0.35233	0.993000	0.82548	7.276000	0.78559	2.725000	0.93324	0.655000	0.94253	TCC		0.438	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
BMPER	168667	broad.mit.edu	37	7	34125380	34125380	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:34125380C>A	ENST00000297161.2	+	14	1795	c.1421C>A	c.(1420-1422)tCt>tAt	p.S474Y	BMPER_ENST00000426693.1_Missense_Mutation_p.S474Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	474	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.S474Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGGAAATATCTTGGGATGGA	0.428																																					p.S474Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421A	7						.						68.0	60.0	63.0					7																	34125380		2203	4300	6503	34091905	SO:0001583	missense	168667	exon13				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1421C>A	7.37:g.34125380C>A	ENSP00000297161:p.Ser474Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	34091905	NM_133468	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875748	0.91664	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59906	0.23;0.23	5.95	5.95	0.96441	von Willebrand factor, type D domain (3);	0.047683	0.85682	D	0.000000	T	0.66655	0.2811	L	0.42632	1.34	0.58432	D	0.999999	D	0.62365	0.991	P	0.57620	0.824	T	0.59762	-0.7393	10	0.30854	T	0.27	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	474	Q8N8U9	BMPER_HUMAN	Y	474	ENSP00000297161:S474Y;ENSP00000393950:S474Y	ENSP00000297161:S474Y	S	+	2	0	BMPER	34091905	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.280000	0.78610	2.826000	0.97356	0.563000	0.77884	TCT		0.428	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
BMPER	168667	broad.mit.edu	37	7	34182855	34182855	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:34182855G>T	ENST00000297161.2	+	15	2133	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	BMPER_ENST00000426693.1_Missense_Mutation_p.D587Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	587					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.D587Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGTGTGACAGACATGTGTGA	0.428																																					p.D587Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1759T	7						.						163.0	164.0	164.0					7																	34182855		2203	4300	6503	34149380	SO:0001583	missense	168667	exon14				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1759G>T	7.37:g.34182855G>T	ENSP00000297161:p.Asp587Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	34149380	NM_133468	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816429	0.90790	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.80566	-1.39;-1.39	5.76	5.76	0.90799	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94097	0.7358	10	0.87932	D	0	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	587	Q8N8U9	BMPER_HUMAN	Y	587	ENSP00000297161:D587Y;ENSP00000393950:D587Y	ENSP00000297161:D587Y	D	+	1	0	BMPER	34149380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.154000	0.94694	2.880000	0.98712	0.650000	0.86243	GAC		0.428	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
NPSR1	387129	broad.mit.edu	37	7	34888140	34888140	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:34888140A>G	ENST00000360581.1	+	8	1018	c.890A>G	c.(889-891)gAc>gGc	p.D297G	NPSR1_ENST00000381542.1_Missense_Mutation_p.D231G|NPSR1_ENST00000531252.1_Missense_Mutation_p.D286G|NPSR1_ENST00000359791.1_Missense_Mutation_p.D297G|NPSR1_ENST00000381539.3_Missense_Mutation_p.D297G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	297						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.D297G(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GACATTTTGGACAATTTCAAC	0.493																																					p.D297G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A890G	7						.						262.0	254.0	257.0					7																	34888140		2203	4300	6503	34854665	SO:0001583	missense	387129	exon8			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.890A>G	7.37:g.34888140A>G	ENSP00000353788:p.Asp297Gly	Somatic		Capture	Illumina HiSeq	Phase_I	34854665	NM_207172	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033351	0.75504	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.79269	0.4417	L	0.52266	1.64	0.53688	D	0.999978	D;D;D;D;D;D	0.71674	0.998;0.993;0.998;0.97;0.993;0.976	D;D;D;P;D;D	0.69654	0.965;0.91;0.941;0.888;0.91;0.912	T	0.80115	-0.1517	10	0.52906	T	0.07	-28.9782	14.4397	0.67306	1.0:0.0:0.0:0.0	.	231;286;231;297;297;297	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	G	297;231;297;286;297;100	ENSP00000353788:D297G;ENSP00000370953:D231G;ENSP00000352839:D297G;ENSP00000433258:D286G;ENSP00000370950:D297G	ENSP00000334093:D100G	D	+	2	0	NPSR1	34854665	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.328000	0.72915	2.191000	0.70037	0.533000	0.62120	GAC		0.493	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
TBX20	57057	broad.mit.edu	37	7	35244134	35244134	+	Silent	SNP	G	G	A	rs113335362	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:35244134G>A	ENST00000408931.3	-	7	1477	c.951C>T	c.(949-951)taC>taT	p.Y317Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	317					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y317Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CTTCTCCTCCGTAGGTACGGA	0.478																																					p.Y317Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	7						.	G		3,3859		0,3,1928	85.0	79.0	81.0		951	-2.3	1.0	7	dbSNP_132	81	0,8268		0,0,4134	no	coding-synonymous	TBX20	NM_001077653.2		0,3,6062	AA,AG,GG		0.0,0.0777,0.0247		317/448	35244134	3,12127	1931	4134	6065	35210659	SO:0001819	synonymous_variant	57057	exon7			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.951C>T	7.37:g.35244134G>A		Somatic		Capture	Illumina HiSeq	Phase_I	35210659	NM_001077653	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	CCDS43568.1																																																																																				0.478	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417	
KIAA0895	23366	broad.mit.edu	37	7	36396690	36396690	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:36396690C>A	ENST00000297063.6	-	3	738	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	KIAA0895_ENST00000436884.1_Missense_Mutation_p.D79Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D179Y|KIAA0895_ENST00000415803.2_Missense_Mutation_p.D217Y|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D179Y|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D217Y	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	230								p.D217Y(1)|p.D230Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAAAAGTCATCTCCCTTT	0.403																																					p.D230Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G688T	7						.						100.0	93.0	95.0					7																	36396690		1840	4095	5935	36363215	SO:0001583	missense	23366	exon3			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.688G>T	7.37:g.36396690C>A	ENSP00000297063:p.Asp230Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	36363215	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363820	0.61513	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803;ENST00000429651	.	.	.	4.86	4.86	0.63082	.	0.357279	0.31566	N	0.007422	T	0.71074	0.3297	L	0.47716	1.5	0.36485	D	0.868102	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.98;1.0;0.993;0.989;0.989	D;D;P;D;P;P;P	0.75484	0.98;0.923;0.73;0.986;0.85;0.834;0.834	T	0.77300	-0.2639	9	0.66056	D	0.02	-29.7668	18.1817	0.89780	0.0:1.0:0.0:0.0	.	179;179;79;217;230;217;179	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	Y	230;217;179;179;79;217;97	.	ENSP00000297063:D230Y	D	-	1	0	KIAA0895	36363215	0.936000	0.31750	0.989000	0.46669	0.995000	0.86356	5.251000	0.65438	2.531000	0.85337	0.563000	0.77884	GAC		0.403	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	
AMPH	273	broad.mit.edu	37	7	38574564	38574564	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:38574564G>A	ENST00000356264.2	-	2	332	c.117C>T	c.(115-117)ttC>ttT	p.F39F	AMPH_ENST00000325590.5_Silent_p.F39F|AMPH_ENST00000428293.2_Silent_p.F39F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	39	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.F39F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CATATTCTTCGAACTGTTCGT	0.343																																					p.F39F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	7						.						167.0	140.0	149.0					7																	38574564		2203	4300	6503	38541089	SO:0001819	synonymous_variant	273	exon2				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.117C>T	7.37:g.38574564G>A		Somatic		Capture	Illumina HiSeq	Phase_I	38541089	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	CCDS5456.1																																																																																				0.343	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
CDK13	8621	broad.mit.edu	37	7	40085601	40085601	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:40085601T>G	ENST00000181839.4	+	6	3125	c.2520T>G	c.(2518-2520)tgT>tgG	p.C840W	CDK13_ENST00000340829.5_Missense_Mutation_p.C840W|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.C840W(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATATTAAATGTTCCAATATCC	0.303																																					p.C840W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2520G	7						.						97.0	105.0	103.0					7																	40085601		2203	4300	6503	40052126	SO:0001583	missense	8621	exon6			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2520T>G	7.37:g.40085601T>G	ENSP00000181839:p.Cys840Trp	Somatic		Capture	Illumina HiSeq	Phase_I	40052126	NM_003718	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534209	0.45073	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.42900	0.96;0.96	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.55097	0.1899	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.55075	-0.8197	8	.	.	.	-7.4277	7.1225	0.25453	0.0:0.1692:0.0:0.8308	.	226;840;840	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	W	840	ENSP00000181839:C840W;ENSP00000340557:C840W	.	C	+	3	2	CDK13	40052126	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.661000	0.46758	1.930000	0.55929	0.528000	0.53228	TGT		0.303	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
CDK13	8621	broad.mit.edu	37	7	40133871	40133871	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:40133871T>C	ENST00000181839.4	+	14	4436	c.3831T>C	c.(3829-3831)taT>taC	p.Y1277Y	CDK13_ENST00000340829.5_Silent_p.Y1217Y	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1277					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Y1277Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATCTAGATTATCGGACAGAAA	0.547																																					p.Y1277Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3831C	7						.						155.0	141.0	146.0					7																	40133871		2203	4300	6503	40100396	SO:0001819	synonymous_variant	8621	exon14			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3831T>C	7.37:g.40133871T>C		Somatic		Capture	Illumina HiSeq	Phase_I	40100396	NM_003718	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	CCDS5461.1																																																																																				0.547	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
GLI3	2737	broad.mit.edu	37	7	42005181	42005181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:42005181C>T	ENST00000395925.3	-	15	3574	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1164					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E1164K(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGCTGACTTCGTTCCACTGA	0.677									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.E1164K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3490A	7						.						88.0	104.0	99.0					7																	42005181		2201	4293	6494	41971706	SO:0001583	missense	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3490G>A	7.37:g.42005181C>T	ENSP00000379258:p.Glu1164Lys	Somatic		Capture	Illumina HiSeq	Phase_I	41971706	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223337	0.95139	.	.	ENSG00000106571	ENST00000395925	T	0.47177	0.85	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67632	-0.5621	10	0.72032	D	0.01	.	19.7785	0.96405	0.0:1.0:0.0:0.0	.	1164	P10071	GLI3_HUMAN	K	1164	ENSP00000379258:E1164K	ENSP00000379258:E1164K	E	-	1	0	GLI3	41971706	1.000000	0.71417	0.991000	0.47740	0.715000	0.41141	7.759000	0.85235	2.667000	0.90743	0.563000	0.77884	GAA		0.677	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
C7orf25	79020	broad.mit.edu	37	7	42949674	42949674	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:42949674G>A	ENST00000350427.4	-	2	1101	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.L276F|C7orf25_ENST00000447342.1_Missense_Mutation_p.L276F|C7orf25_ENST00000431882.2_Missense_Mutation_p.L334F			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	276								p.L276F(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TGTTCTGTGAGCACTTTCTCT	0.433																																					p.L276F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	7						.						114.0	110.0	111.0					7																	42949674		2203	4300	6503	42916199	SO:0001583	missense	79020	exon2			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.826C>T	7.37:g.42949674G>A	ENSP00000343364:p.Leu276Phe	Somatic		Capture	Illumina HiSeq	Phase_I	42916199	NM_024054	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351385	0.61183	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.80299	-0.1441	10	0.66056	D	0.02	-1.7584	13.248	0.60033	0.0723:0.0:0.9277:0.0	.	334;276	B4DQM3;Q9BPX7	.;CG025_HUMAN	F	276;276;334;276	ENSP00000343364:L276F;ENSP00000413029:L276F;ENSP00000416290:L334F;ENSP00000396597:L276F	ENSP00000343364:L276F	L	-	1	0	C7orf25	42916199	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	3.170000	0.50816	2.735000	0.93741	0.561000	0.74099	CTC		0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
URGCP	55665	broad.mit.edu	37	7	43918139	43918139	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:43918139G>A	ENST00000453200.1	-	6	1416	c.923C>T	c.(922-924)tCg>tTg	p.S308L	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.S265L|URGCP_ENST00000447717.3_Missense_Mutation_p.S265L|URGCP_ENST00000443736.1_Missense_Mutation_p.S265L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.S299L|URGCP_ENST00000223341.7_Missense_Mutation_p.S265L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	308					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.S265L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAACCCATCCGAAATCTCCCG	0.562																																					p.S265L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794T	7						.						46.0	48.0	47.0					7																	43918139		1882	4109	5991	43884664	SO:0001583	missense	55665	exon6				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.923C>T	7.37:g.43918139G>A	ENSP00000396918:p.Ser308Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43884664	NM_001077664	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716270	0.48622	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81	5.52	5.52	0.82312	.	0.255193	0.39083	N	0.001461	T	0.17492	0.0420	M	0.65677	2.01	0.18873	N	0.999987	P;P	0.43352	0.804;0.804	B;B	0.40659	0.336;0.336	T	0.09662	-1.0664	10	0.72032	D	0.01	-11.9891	16.928	0.86182	0.0:0.0:1.0:0.0	.	299;308	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	265;265;299;265;308;265	ENSP00000223341:S265L;ENSP00000336872:S265L;ENSP00000384955:S299L;ENSP00000392136:S265L;ENSP00000396918:S308L;ENSP00000402803:S265L	ENSP00000223341:S265L	S	-	2	0	URGCP	43884664	0.997000	0.39634	0.203000	0.23512	0.959000	0.62525	7.371000	0.79600	2.604000	0.88044	0.491000	0.48974	TCG		0.562	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
MYL7	58498	broad.mit.edu	37	7	44179429	44179429	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:44179429G>A	ENST00000223364.3	-	5	355	c.329C>T	c.(328-330)gCc>gTc	p.A110V	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Missense_Mutation_p.A83V	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	110	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.A110V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						CATGCGGAAGGCACTCAGGAT	0.622																																					p.A110V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C329T	7						.						65.0	57.0	60.0					7																	44179429		2203	4300	6503	44145954	SO:0001583	missense	58498	exon5			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.329C>T	7.37:g.44179429G>A	ENSP00000223364:p.Ala110Val	Somatic		Capture	Illumina HiSeq	Phase_I	44145954	NM_021223	B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	CCDS5478.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234238	0.95207	.	.	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951	T;T;T;T;T	0.70749	2.71;-0.51;-0.51;-0.51;-0.44	5.05	5.05	0.67936	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90153	0.4222	10	0.66056	D	0.02	.	17.177	0.86844	0.0:0.0:1.0:0.0	.	110	Q01449	MLRA_HUMAN	V	37;110;83;132;139	ENSP00000416010:A37V;ENSP00000223364:A110V;ENSP00000403360:A83V;ENSP00000389202:A132V;ENSP00000403988:A139V	ENSP00000223364:A110V	A	-	2	0	MYL7	44145954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.868000	0.92320	2.348000	0.79779	0.551000	0.68910	GCC		0.622	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223	
CAMK2B	816	broad.mit.edu	37	7	44294155	44294155	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:44294155G>A	ENST00000395749.2	-	5	403	c.327C>T	c.(325-327)agC>agT	p.S109S	CAMK2B_ENST00000457475.1_Silent_p.S109S|CAMK2B_ENST00000350811.3_Silent_p.S109S|CAMK2B_ENST00000347193.4_Silent_p.S109S|CAMK2B_ENST00000346990.4_Silent_p.S109S|CAMK2B_ENST00000353625.4_Silent_p.S109S|CAMK2B_ENST00000258682.6_Silent_p.S109S|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Silent_p.S109S|CAMK2B_ENST00000395747.2_Silent_p.S109S|CAMK2B_ENST00000358707.3_Silent_p.S109S	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.S109S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CATCAGCCTCGCTGTAGTACT	0.557																																					p.S109S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	7						.						175.0	151.0	159.0					7																	44294155		2203	4300	6503	44260680	SO:0001819	synonymous_variant	816	exon5			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.327C>T	7.37:g.44294155G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44260680	NM_172078	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	CCDS5483.1																																																																																				0.557	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084	
ABCA13	154664	broad.mit.edu	37	7	48314032	48314032	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:48314032T>C	ENST00000435803.1	+	17	4793	c.4769T>C	c.(4768-4770)gTa>gCa	p.V1590A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1590					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1590A(1)|p.V1535A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAAGGATGTAAACAGTGTA	0.328																																					p.X1536Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4606C	7						.						125.0	126.0	126.0					7																	48314032		1841	4083	5924	48284578	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4769T>C	7.37:g.48314032T>C	ENSP00000411096:p.Val1590Ala	Somatic		Capture	Illumina HiSeq	Phase_I	48284578	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	4.256	0.046606	0.08243	.	.	ENSG00000179869	ENST00000435803	D	0.85556	-2.0	5.37	2.9	0.33743	.	0.923274	0.08945	N	0.871036	T	0.75503	0.3858	L	0.36672	1.1	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.62402	-0.6862	9	.	.	.	.	6.4178	0.21725	0.0:0.0843:0.1604:0.7553	.	1590	Q86UQ4	ABCAD_HUMAN	A	1590	ENSP00000411096:V1590A	.	V	+	2	0	ABCA13	48284578	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.193000	0.17116	2.169000	0.68431	0.460000	0.39030	GTA		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48315690	48315690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:48315690G>T	ENST00000435803.1	+	17	6451	c.6427G>T	c.(6427-6429)Gaa>Taa	p.E2143*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2143					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E2143*(1)|p.E2088*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGAATGATAGAAACATTATT	0.333																																					p.X2088Y												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6264T	7						.						36.0	33.0	34.0					7																	48315690		1822	4082	5904	48286236	SO:0001587	stop_gained	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6427G>T	7.37:g.48315690G>T	ENSP00000411096:p.Glu2143*	Somatic		Capture	Illumina HiSeq	Phase_I	48286236	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	45	11.543049	0.99574	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.99	0.747	0.18371	.	1.020060	0.07849	N	0.964270	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0808	0.81003	0.0:0.461:0.539:0.0	.	.	.	.	X	2143	.	.	E	+	1	0	ABCA13	48286236	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	0.010000	0.13242	0.212000	0.20703	-0.494000	0.04653	GAA		0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48411864	48411864	+	Missense_Mutation	SNP	G	G	A	rs570952854		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:48411864G>A	ENST00000435803.1	+	33	10927	c.10903G>A	c.(10903-10905)Gtt>Att	p.V3635I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3635					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V3635I(1)|p.V3580I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGGCCATCGTTCTGAAAAC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18714	0.0		0.0	False		,,,				2504	0.0				p.S3580S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10740A	7						.						230.0	226.0	227.0					7																	48411864		2060	4204	6264	48382410	SO:0001583	missense	154664	exon31			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10903G>A	7.37:g.48411864G>A	ENSP00000411096:p.Val3635Ile	Somatic		Capture	Illumina HiSeq	Phase_I	48382410	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	1.351	-0.591282	0.03799	.	.	ENSG00000179869	ENST00000435803	D	0.87491	-2.26	5.77	-1.16	0.09678	.	0.381500	0.22125	N	0.064274	T	0.55114	0.1900	N	0.00801	-1.175	0.49582	D	0.999804	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.54543	-0.8278	10	0.02654	T	1	.	6.8687	0.24108	0.4762:0.128:0.3958:0.0	.	1337;3635	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3635	ENSP00000411096:V3635I	ENSP00000411096:V3635I	V	+	1	0	ABCA13	48382410	0.853000	0.29707	0.008000	0.14137	0.914000	0.54420	0.853000	0.27777	-0.342000	0.08363	-0.294000	0.09567	GTT		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48619941	48619941	+	Missense_Mutation	SNP	C	C	T	rs200851445	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:48619941C>T	ENST00000435803.1	+	56	14500	c.14476C>T	c.(14476-14478)Cgc>Tgc	p.R4826C	ABCA13_ENST00000544596.1_Missense_Mutation_p.R556C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4826	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R4771C(1)|p.R4826C(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTAGCTTACGCGGGATTCC	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15012	0.0		0.0	False		,,,				2504	0.0				p.Y4771Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C14313T	7						.	C	CYS/ARG	0,3806		0,0,1903	53.0	52.0	53.0		14476	5.3	0.1	7		53	1,8207		0,1,4103	yes	missense	ABCA13	NM_152701.3	180	0,1,6006	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging	4826/5059	48619941	1,12013	1903	4104	6007	48590487	SO:0001583	missense	154664	exon54			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14476C>T	7.37:g.48619941C>T	ENSP00000411096:p.Arg4826Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48590487	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455921	0.43634	0.0	1.22E-4	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.41758	0.99;0.99;0.99	5.3	5.3	0.74995	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.123705	0.37095	N	0.002243	T	0.69015	0.3064	M	0.88570	2.965	0.36034	D	0.839575	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.944;0.983;0.978	T	0.80393	-0.1401	10	0.87932	D	0	.	14.4465	0.67352	0.0:1.0:0.0:0.0	.	556;2528;4826	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	C	4826;599;556	ENSP00000411096:R4826C;ENSP00000391042:R599C;ENSP00000442634:R556C	ENSP00000391042:R599C	R	+	1	0	ABCA13	48590487	0.757000	0.28394	0.062000	0.19696	0.146000	0.21551	1.292000	0.33342	2.481000	0.83766	0.637000	0.83480	CGC		0.542	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
EGFR	1956	broad.mit.edu	37	7	55224338	55224338	+	Silent	SNP	G	G	A	rs2302536	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:55224338G>A	ENST00000275493.2	+	9	1296	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	EGFR_ENST00000442591.1_Silent_p.P373P|EGFR_ENST00000420316.2_Silent_p.P373P|EGFR_ENST00000455089.1_Silent_p.P328P|EGFR_ENST00000454757.2_Silent_p.P320P|EGFR_ENST00000342916.3_Silent_p.P373P|EGFR_ENST00000344576.2_Silent_p.P373P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P373P(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACATCCTGCCGGTGGCATTTA	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G|||	19	0.00379393	0.0	0.0173	5008	,	,		19276	0.005		0.002	False		,,,				2504	0.0				p.P373P		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1119A	7						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	80.0	82.0	82.0		1119,1119,1119,1119	-11.9	0.4	7	dbSNP_100	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	373/1211,373/629,373/406,373/706	55224338	1,13005	2203	4300	6503	55191832	SO:0001819	synonymous_variant	1956	exon9	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1119G>A	7.37:g.55224338G>A		Somatic		Capture	Illumina HiSeq	Phase_I	55191832	NM_201282	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:55914312G>A	ENST00000388975.3	-	3	189	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R25C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284																																					p.R25C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C73T	7						.						71.0	67.0	68.0					7																	55914312		1801	4072	5873	55881806	SO:0001583	missense	346288	exon3			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.73C>T	7.37:g.55914312G>A	ENSP00000373627:p.Arg25Cys	Somatic		Capture	Illumina HiSeq	Phase_I	55881806	NM_207366	A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	g	11.60	1.686793	0.29962	.	.	ENSG00000154997	ENST00000388975	T	0.55760	0.5	4.4	2.52	0.30459	.	0.252960	0.25532	N	0.030038	T	0.67211	0.2869	M	0.73962	2.25	0.20307	N	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.56541	-0.7962	10	0.87932	D	0	.	7.3269	0.26560	0.0939:0.0:0.738:0.1681	.	25	Q6ZU15	SEP14_HUMAN	C	25	ENSP00000373627:R25C	ENSP00000373627:R25C	R	-	1	0	SEPT14	55881806	0.995000	0.38212	0.025000	0.17156	0.442000	0.32017	3.948000	0.56660	0.528000	0.28580	-0.136000	0.14681	CGT		0.284	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
ZNF107	51427	broad.mit.edu	37	7	64167354	64167354	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:64167354C>A	ENST00000395391.1	+	4	2047	c.672C>A	c.(670-672)gtC>gtA	p.V224V	ZNF107_ENST00000423627.1_Silent_p.V224V|ZNF107_ENST00000344930.3_Silent_p.V224V			Q9UII5	ZN107_HUMAN	zinc finger protein 107	224					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.V224V(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GTGGCAAAGTCTTTAGCCAGT	0.368																																					p.V224V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672A	7						.						52.0	56.0	54.0					7																	64167354		2203	4300	6503	63804789	SO:0001819	synonymous_variant	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.672C>A	7.37:g.64167354C>A		Somatic		Capture	Illumina HiSeq	Phase_I	63804789	NM_001013746		Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																				0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF117	51351	broad.mit.edu	37	7	64439395	64439395	+	Missense_Mutation	SNP	C	C	A	rs368230173		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:64439395C>A	ENST00000282869.6	-	4	1838	c.554G>T	c.(553-555)aGa>aTa	p.R185I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	185					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R185I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGAATTCTCTTATGTCT	0.353																																					p.R185I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G554T	7						.	C	ILE/ARG	1,4307		0,1,2153	48.0	51.0	50.0		554	1.2	0.0	7		50	0,8552		0,0,4276	no	missense	ZNF117	NM_015852.3	97	0,1,6429	AA,AC,CC		0.0,0.0232,0.0078	benign	185/484	64439395	1,12859	2154	4276	6430	64076830	SO:0001583	missense	51351	exon4			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.554G>T	7.37:g.64439395C>A	ENSP00000282869:p.Arg185Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64076830	NM_015852	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.557908	0.27827	2.32E-4	0.0	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.02446	4.29	1.2	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	L	0.48877	1.53	0.44275	D	0.997138	B	0.19583	0.037	B	0.18561	0.022	T	0.44922	-0.9296	9	0.27082	T	0.32	.	7.8438	0.29414	0.0:1.0:0.0:0.0	.	185	Q03924	ZN117_HUMAN	I	185	ENSP00000282869:R185I	ENSP00000282869:R185I	R	-	2	0	ZNF117	64076830	0.000000	0.05858	0.024000	0.17045	0.630000	0.37929	-0.129000	0.10515	0.598000	0.29829	0.205000	0.17691	AGA		0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498	
TPST1	8460	broad.mit.edu	37	7	65705614	65705614	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:65705614G>T	ENST00000304842.5	+	2	627	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	68					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.D68N(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTATCACAAAGATATGCCTTT	0.498																																					p.D68Y												.	.	1	Substitution - Missense(1)	breast(1)	c.G202T	7						.						97.0	82.0	87.0					7																	65705614		2203	4300	6503	65343049	SO:0001583	missense	8460	exon2			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.202G>T	7.37:g.65705614G>T	ENSP00000302413:p.Asp68Tyr	None		Capture	Illumina HiSeq	Phase_I	65343049	NM_003596	A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509089	0.44660	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	T;T	0.40476	1.03;1.03	5.93	5.04	0.67666	.	0.044796	0.85682	D	0.000000	T	0.32734	0.0839	L	0.27053	0.805	0.80722	D	1	B;B	0.17268	0.021;0.005	B;B	0.15870	0.014;0.009	T	0.07233	-1.0783	10	0.51188	T	0.08	-16.2569	14.5918	0.68371	0.0705:0.0:0.9295:0.0	.	68;68	F5H7U7;O60507	.;TPST1_HUMAN	Y	68	ENSP00000302413:D68Y;ENSP00000391338:D68Y	ENSP00000302413:D68Y	D	+	1	0	TPST1	65343049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.982000	0.76173	1.480000	0.48289	0.585000	0.79938	GAT		0.498	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596	
RABGEF1	27342	broad.mit.edu	37	7	66274041	66274041	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:66274041C>A	ENST00000284957.5	+	9	1323	c.1246C>A	c.(1246-1248)Ctc>Atc	p.L416I	RABGEF1_ENST00000439720.2_Missense_Mutation_p.L429I|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L416I|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L430I|KCTD7_ENST00000510829.2_Missense_Mutation_p.L416I|KCTD7_ENST00000451741.2_Missense_Mutation_p.L416I|KCTD7_ENST00000380828.2_Missense_Mutation_p.L456I|GTF2IRD1P1_ENST00000457166.1_RNA			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	633					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.L416I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GAACTTGGATCTCTTGTCTCA	0.443																																					p.L416I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1246A	7						.						90.0	85.0	86.0					7																	66274041		2203	4300	6503	65911476	SO:0001583	missense	27342	exon9			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1246C>A	7.37:g.66274041C>A	ENSP00000284957:p.Leu416Ile	Somatic		Capture	Illumina HiSeq	Phase_I	65911476	NM_014504	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412717	0.62511	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.47869	0.84;0.85;0.85;0.85;0.85;0.83;0.83	6.17	6.17	0.99709	.	0.254128	0.40302	N	0.001126	T	0.48519	0.1504	L	0.50333	1.59	0.43489	D	0.99572	P;P;P	0.44659	0.536;0.84;0.673	B;B;B	0.41571	0.104;0.176;0.36	T	0.38023	-0.9680	10	0.38643	T	0.18	-22.6797	19.8676	0.96824	0.0:1.0:0.0:0.0	.	430;250;633	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	I	500;456;416;416;332;416;416;429;430	ENSP00000370208:L456I;ENSP00000421124:L416I;ENSP00000398177:L416I;ENSP00000284957:L416I;ENSP00000415815:L416I;ENSP00000403429:L429I;ENSP00000390480:L430I	ENSP00000370207:L500I	L	+	1	0	RABGEF1;KCTD7	65911476	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.764000	0.47613	2.941000	0.99782	0.655000	0.94253	CTC		0.443	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
WBSCR17	64409	broad.mit.edu	37	7	71142196	71142196	+	Splice_Site	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:71142196C>T	ENST00000333538.5	+	9	2039	c.1405C>T	c.(1405-1407)Ctt>Ttt	p.L469F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	469	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L469F(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATTCTTGCAGCTTCGCAACAA	0.532																																					p.L469F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1405T	7						.						211.0	212.0	212.0					7																	71142196		2203	4300	6503	70780132	SO:0001630	splice_region_variant	64409	exon9			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1405-1C>T	7.37:g.71142196C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70780132	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358404	0.61403	.	.	ENSG00000185274	ENST00000333538	T	0.28895	1.59	5.11	5.11	0.69529	Ricin B-related lectin (1);Ricin B lectin (3);	0.145914	0.47093	D	0.000259	T	0.55497	0.1924	M	0.77103	2.36	0.54753	D	0.999982	D	0.57571	0.98	P	0.62740	0.906	T	0.56123	-0.8031	9	.	.	.	.	17.7031	0.88301	0.0:1.0:0.0:0.0	.	469	Q6IS24	GLTL3_HUMAN	F	469	ENSP00000329654:L469F	.	L	+	1	0	WBSCR17	70780132	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.851000	0.48302	2.641000	0.89580	0.650000	0.86243	CTT		0.532	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Missense_Mutation
POM121	9883	broad.mit.edu	37	7	72416763	72416763	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:72416763G>A	ENST00000434423.2	+	13	3740	c.3740G>A	c.(3739-3741)cGc>cAc	p.R1247H	POM121_ENST00000358357.3_Missense_Mutation_p.R982H|POM121_ENST00000395270.1_Intron|POM121_ENST00000257622.4_Missense_Mutation_p.R982H|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000446813.1_Intron			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1247	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.R982H(1)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CAGCACACCCGCAAAAAGTAG	0.592																																					p.R982H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2945A	7						.						28.0	29.0	28.0					7																	72416763		2203	4294	6497	72054699	SO:0001583	missense	9883	exon15			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3740G>A	7.37:g.72416763G>A	ENSP00000405562:p.Arg1247His	Somatic		Capture	Illumina HiSeq	Phase_I	72054699	NM_172020	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	G	11.80	1.746002	0.30955	.	.	ENSG00000196313	ENST00000257622;ENST00000358357;ENST00000434423	T;T;T	0.08546	3.08;3.08;3.28	3.01	3.01	0.34805	.	.	.	.	.	T	0.12518	0.0304	L	0.46614	1.455	0.42212	D	0.991819	.	.	.	.	.	.	T	0.15521	-1.0434	7	0.23891	T	0.37	.	11.6158	0.51090	0.0:0.0:1.0:0.0	.	.	.	.	H	982;982;1247	ENSP00000257622:R982H;ENSP00000351124:R982H;ENSP00000405562:R1247H	ENSP00000257622:R982H	R	+	2	0	POM121	72054699	1.000000	0.71417	0.974000	0.42286	0.027000	0.11550	6.922000	0.75811	1.684000	0.51022	0.391000	0.25812	CGC		0.592	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
STX1A	6804	broad.mit.edu	37	7	73117273	73117273	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:73117273C>T	ENST00000222812.3	-	8	606	c.580G>A	c.(580-582)Gag>Aag	p.E194K	STX1A_ENST00000395154.3_Missense_Mutation_p.E194K|STX1A_ENST00000484736.1_5'Flank|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395155.3_Missense_Mutation_p.E194K|STX1A_ENST00000395156.3_Missense_Mutation_p.E194K	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	194	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)	p.E194K(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTCTCAATCTCGCTCAGAGCC	0.607																																					p.E194K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	7						.						117.0	82.0	94.0					7																	73117273		2203	4300	6503	72755209	SO:0001583	missense	6804	exon8				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.580G>A	7.37:g.73117273C>T	ENSP00000222812:p.Glu194Lys	Somatic		Capture	Illumina HiSeq	Phase_I	72755209	NM_004603	O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809292	0.96975	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.41	5.41	0.78517	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.79108	0.967;0.992;0.878	T	0.71606	-0.4542	10	0.56958	D	0.05	-40.4583	16.6944	0.85330	0.0:1.0:0.0:0.0	.	194;194;194	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	K	103;194;194;194;194	ENSP00000222812:E194K;ENSP00000378585:E194K;ENSP00000378583:E194K;ENSP00000378584:E194K	ENSP00000222812:E194K	E	-	1	0	STX1A	72755209	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	7.487000	0.81328	2.551000	0.86045	0.561000	0.74099	GAG		0.607	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603	
CCDC146	57639	broad.mit.edu	37	7	76908149	76908149	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:76908149T>G	ENST00000285871.4	+	12	1648	c.1521T>G	c.(1519-1521)atT>atG	p.I507M	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.I221M	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	507								p.I507M(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AATGTGAAATTTATCGGAGGT	0.299																																					p.I507M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1521G	7						.						63.0	61.0	61.0					7																	76908149		2203	4298	6501	76746085	SO:0001583	missense	57639	exon12			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1521T>G	7.37:g.76908149T>G	ENSP00000285871:p.Ile507Met	Somatic		Capture	Illumina HiSeq	Phase_I	76746085	NM_020879	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318982	0.23994	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.27256	1.68;1.68	5.17	3.96	0.45880	.	0.296155	0.36815	N	0.002386	T	0.12860	0.0312	N	0.19112	0.55	0.23798	N	0.996816	B;B	0.28291	0.053;0.206	B;B	0.23852	0.022;0.049	T	0.10474	-1.0628	10	0.32370	T	0.25	-13.7083	4.4361	0.11550	0.1507:0.1517:0.0:0.6976	.	221;507	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	M	507;221	ENSP00000285871:I507M;ENSP00000413885:I221M	ENSP00000285871:I507M	I	+	3	3	AC007000.1	76746085	0.881000	0.30235	0.998000	0.56505	0.584000	0.36387	0.326000	0.19646	1.932000	0.55993	0.533000	0.62120	ATT		0.299	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
PCLO	27445	broad.mit.edu	37	7	82585302	82585302	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:82585302A>C	ENST00000333891.9	-	5	5304	c.4967T>G	c.(4966-4968)cTt>cGt	p.L1656R	PCLO_ENST00000423517.2_Missense_Mutation_p.L1656R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L1656R(1)|p.L1587R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTAACTACAAGTTCTTCACT	0.393																																					p.L1656R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4967G	7						.						148.0	139.0	142.0					7																	82585302		1898	4119	6017	82423238	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4967T>G	7.37:g.82585302A>C	ENSP00000334319:p.Leu1656Arg	Somatic		Capture	Illumina HiSeq	Phase_I	82423238	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	5.638	0.302313	0.10678	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.22	5.32	4.17	0.49024	.	.	.	.	.	T	0.29423	0.0733	M	0.64997	1.995	0.80722	D	1	P;P	0.52061	0.95;0.95	P;P	0.53809	0.735;0.735	T	0.02156	-1.1204	9	0.87932	D	0	.	10.8707	0.46881	0.9257:0.0:0.0743:0.0	.	1656;1656	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1587;1656;1656	ENSP00000334319:L1656R;ENSP00000388393:L1656R	ENSP00000334319:L1656R	L	-	2	0	PCLO	82423238	0.306000	0.24490	0.506000	0.27664	0.987000	0.75469	2.405000	0.44548	0.860000	0.35481	0.533000	0.62120	CTT		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82595316	82595316	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:82595316T>C	ENST00000333891.9	-	4	4125	c.3788A>G	c.(3787-3789)gAc>gGc	p.D1263G	PCLO_ENST00000423517.2_Missense_Mutation_p.D1263G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D1202G(1)|p.D1263G(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTAAGTAAGTCATGTTTCTG	0.423																																					p.D1263G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3788G	7						.						232.0	229.0	230.0					7																	82595316		1876	4106	5982	82433252	SO:0001583	missense	27445	exon4			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3788A>G	7.37:g.82595316T>C	ENSP00000334319:p.Asp1263Gly	Somatic		Capture	Illumina HiSeq	Phase_I	82433252	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.472438	0.26423	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.28	5.19	1.35	0.21983	.	.	.	.	.	T	0.10981	0.0268	L	0.27053	0.805	0.18873	N	0.999989	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.29761	-1.0001	9	0.87932	D	0	.	4.5502	0.12108	0.1211:0.0668:0.1268:0.6852	.	1263;1263	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1202;1263;1263	ENSP00000334319:D1263G;ENSP00000388393:D1263G	ENSP00000334319:D1263G	D	-	2	0	PCLO	82433252	0.003000	0.15002	0.000000	0.03702	0.200000	0.23975	1.227000	0.32576	0.120000	0.18254	0.533000	0.62120	GAC		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3D	223117	broad.mit.edu	37	7	84751160	84751160	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:84751160A>G	ENST00000284136.6	-	1	91	c.48T>C	c.(46-48)ttT>ttC	p.F16F	SEMA3D_ENST00000444867.1_Silent_p.F16F	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.F16F(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GAAAAAGGTGAAAATCTTGGC	0.343																																					p.F16F	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T48C	7						.						109.0	106.0	107.0					7																	84751160		2203	4300	6503	84589096	SO:0001819	synonymous_variant	223117	exon1			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.48T>C	7.37:g.84751160A>G		Somatic		Capture	Illumina HiSeq	Phase_I	84589096	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																				0.343	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
ABCB1	5243	broad.mit.edu	37	7	87229465	87229465	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:87229465C>A	ENST00000265724.3	-	3	453	c.36G>T	c.(34-36)aaG>aaT	p.K12N	ABCB1_ENST00000543898.1_Missense_Mutation_p.K12N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	12					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K12N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGTTCTTCTTCTTTGCTCCTC	0.423																																					p.K12N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G36T	7						.						103.0	97.0	99.0					7																	87229465		2203	4300	6503	87067401	SO:0001583	missense	5243	exon3			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.36G>T	7.37:g.87229465C>A	ENSP00000265724:p.Lys12Asn	Somatic		Capture	Illumina HiSeq	Phase_I	87067401	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	4.288	0.052591	0.08291	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.87412	-2.23;-2.25;1.8	4.07	1.19	0.21007	.	3.539010	0.01967	N	0.043794	T	0.74129	0.3676	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.10450	0.001;0.005	T	0.61884	-0.6971	10	0.28530	T	0.3	3.7196	4.1196	0.10099	0.0:0.5729:0.2055:0.2216	.	12;12	B5AK60;P08183	.;MDR1_HUMAN	N	12	ENSP00000265724:K12N;ENSP00000444095:K12N;ENSP00000399419:K12N	ENSP00000265724:K12N	K	-	3	2	ABCB1	87067401	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	0.014000	0.13333	0.259000	0.21709	0.655000	0.94253	AAG		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
RUNDC3B	154661	broad.mit.edu	37	7	87407126	87407126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:87407126G>T	ENST00000338056.3	+	9	1273	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	RUNDC3B_ENST00000394654.3_Nonsense_Mutation_p.E271*|RUNDC3B_ENST00000493037.1_Nonsense_Mutation_p.E271*	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	288								p.E288*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTACCTTGAAGAACTCTTACG	0.363																																					p.E271X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G811T	7						.						57.0	56.0	57.0					7																	87407126		2203	4300	6503	87245062	SO:0001587	stop_gained	154661	exon8				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.862G>T	7.37:g.87407126G>T	ENSP00000337732:p.Glu288*	Somatic		Capture	Illumina HiSeq	Phase_I	87245062	NM_001134405	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Nonsense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	41	8.879145	0.98988	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.4371	18.7966	0.91997	0.0:0.0:1.0:0.0	.	.	.	.	X	288;271;271	.	ENSP00000337732:E288X	E	+	1	0	RUNDC3B	87245062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.940000	0.92958	2.431000	0.82371	0.561000	0.74099	GAA		0.363	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
RUNDC3B	154661	broad.mit.edu	37	7	87436717	87436717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:87436717C>T	ENST00000338056.3	+	10	1448	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S329L|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	346								p.S346L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GATTTAAGATCGAGACAAGAG	0.433																																					p.S329L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986T	7						.						165.0	148.0	154.0					7																	87436717		2203	4300	6503	87274653	SO:0001583	missense	154661	exon9				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1037C>T	7.37:g.87436717C>T	ENSP00000337732:p.Ser346Leu	Somatic		Capture	Illumina HiSeq	Phase_I	87274653	NM_001134405	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878873	0.72294	.	.	ENSG00000105784	ENST00000338056;ENST00000394654	T;T	0.41065	1.01;1.01	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.34521	1.04	0.80722	D	1	P;P;B	0.48640	0.913;0.913;0.14	B;B;B	0.30716	0.119;0.119;0.106	T	0.09164	-1.0687	10	0.27785	T	0.31	-7.1425	20.1162	0.97934	0.0:1.0:0.0:0.0	.	329;329;346	E9PBR4;B4DFD0;Q96NL0	.;.;RUN3B_HUMAN	L	346;329	ENSP00000337732:S346L;ENSP00000378149:S329L	ENSP00000337732:S346L	S	+	2	0	RUNDC3B	87274653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	TCG		0.433	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
CFAP69	79846	broad.mit.edu	37	7	89894641	89894641	+	Missense_Mutation	SNP	C	C	T	rs368944321	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:89894641C>T	ENST00000389297.4	+	5	634	c.383C>T	c.(382-384)tCg>tTg	p.S128L	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.S128L|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000497910.1_Missense_Mutation_p.S128L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		128								p.S128L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGAAAGTGTCGGATGAAATA	0.328													C|||	3	0.000599042	0.0	0.0	5008	,	,		16252	0.003		0.0	False		,,,				2504	0.0				p.S128L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383T	7						.	C	LEU/SER,LEU/SER	1,3623		0,1,1811	148.0	144.0	145.0		383,383	5.3	0.8	7		145	0,8168		0,0,4084	no	missense,missense	C7orf63	NM_001039706.2,NM_001160138.1	145,145	0,1,5895	TT,TC,CC		0.0,0.0276,0.0085	probably-damaging,probably-damaging	128/942,128/924	89894641	1,11791	1812	4084	5896	89732577	SO:0001583	missense	79846	exon5																														ENST00000389297.4:c.383C>T	7.37:g.89894641C>T	ENSP00000373948:p.Ser128Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89732577	NM_001160138	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895188	0.91962	2.76E-4	0.0	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	T	0.50599	0.1625	M	0.78049	2.395	0.51012	D	0.999909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.54583	-0.8272	10	0.72032	D	0.01	-7.7471	18.9074	0.92467	0.0:1.0:0.0:0.0	.	128;128;126	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	L	128;128;128;68	ENSP00000373948:S128L;ENSP00000321753:S128L;ENSP00000419549:S128L;ENSP00000392365:S68L	ENSP00000321753:S128L	S	+	2	0	C7orf63	89732577	0.996000	0.38824	0.839000	0.33178	0.996000	0.88848	3.703000	0.54808	2.456000	0.83038	0.591000	0.81541	TCG		0.328	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CYP51A1	1595	broad.mit.edu	37	7	91742992	91742992	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:91742992C>T	ENST00000003100.8	-	10	1682	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.R401Q	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	500					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)	p.R506Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TTTTGATCTTCGTTTGTAACG	0.358																																					p.R506Q	GBM(70;1100 1190 11592 25836 51397)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1517A	7						.						148.0	129.0	136.0					7																	91742992		2203	4300	6503	91580928	SO:0001583	missense	1595	exon10			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1517G>A	7.37:g.91742992C>T	ENSP00000003100:p.Arg506Gln	Somatic		Capture	Illumina HiSeq	Phase_I	91580928	NM_000786	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	37	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535294	0.64972	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	D;D	0.86097	-2.07;-2.07	5.1	3.24	0.37175	.	0.114354	0.56097	N	0.000034	D	0.86871	0.6037	M	0.91140	3.18	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.06405	0.001;0.002	D	0.83894	0.0286	10	0.62326	D	0.03	.	10.6375	0.45573	0.0:0.8395:0.0:0.1605	.	446;500	B3KRC6;Q16850	.;CP51A_HUMAN	Q	506;446;401	ENSP00000003100:R506Q;ENSP00000406757:R401Q	ENSP00000003100:R506Q	R	-	2	0	CYP51A1	91580928	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.457000	0.45005	0.682000	0.31407	0.591000	0.81541	CGA		0.358	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4		
CYP51A1	1595	broad.mit.edu	37	7	91753094	91753094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:91753094C>A	ENST00000003100.8	-	6	1009	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E177*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	276					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)	p.E282*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TCAATTTTTTCTTGAGACTGT	0.338																																					p.E282X	GBM(70;1100 1190 11592 25836 51397)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G844T	7						.						114.0	110.0	112.0					7																	91753094		2202	4296	6498	91591030	SO:0001587	stop_gained	1595	exon6			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.844G>T	7.37:g.91753094C>A	ENSP00000003100:p.Glu282*	Somatic		Capture	Illumina HiSeq	Phase_I	91591030	NM_000786	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Nonsense_Mutation	SNP	ENST00000003100.8	37	CCDS5623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.569658|5.569658	0.96540|0.96540	.|.	.|.	ENSG00000001630|ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723|ENST00000422867	.|.	.|.	.|.	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	0.084915|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63236	.|0.2494	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61637	.|-0.7022	.|4	0.20519|.	T|.	0.43|.	.|.	11.5372|11.5372	0.50645|0.50645	0.0:0.8571:0.0:0.1429|0.0:0.8571:0.0:0.1429	.|.	.|.	.|.	.|.	X|I	282;222;177|22	.|.	ENSP00000003100:E282X|.	E|R	-|-	1|2	0|0	CYP51A1|CYP51A1	91591030|91591030	0.998000|0.998000	0.40836|0.40836	0.938000|0.938000	0.37757|0.37757	0.982000|0.982000	0.71751|0.71751	3.929000|3.929000	0.56514|0.56514	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.338	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4		
SAMD9L	219285	broad.mit.edu	37	7	92763932	92763932	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:92763932C>A	ENST00000318238.4	-	5	2569	c.1353G>T	c.(1351-1353)atG>atT	p.M451I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M451I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M451I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	451					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.M451I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCATTGATCATAGATTCAG	0.343																																					p.M451I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1353T	7						.						74.0	74.0	74.0					7																	92763932		2203	4299	6502	92601868	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1353G>T	7.37:g.92763932C>A	ENSP00000326247:p.Met451Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92601868	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	0.151	-1.091033	0.01858	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.12984	2.63;2.63;2.63	4.59	-0.771	0.11002	.	3.726600	0.01406	N	0.013789	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.17369	T	0.5	7.6319	1.6713	0.02812	0.1155:0.356:0.2383:0.2903	.	451	Q8IVG5	SAM9L_HUMAN	I	451	ENSP00000326247:M451I;ENSP00000405760:M451I;ENSP00000408796:M451I	ENSP00000326247:M451I	M	-	3	0	SAMD9L	92601868	0.000000	0.05858	0.022000	0.16811	0.049000	0.14656	-0.464000	0.06688	-0.075000	0.12798	0.460000	0.39030	ATG		0.343	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
HEPACAM2	253012	broad.mit.edu	37	7	92844965	92844965	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:92844965G>T	ENST00000394468.2	-	3	541	c.464C>A	c.(463-465)cCt>cAt	p.P155H	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P143H|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P143H|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P178H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	155	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.P143H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCCAGAGGGAGGATGAATCTG	0.448																																					p.P143H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428A	7						.						88.0	82.0	84.0					7																	92844965		2203	4300	6503	92682901	SO:0001583	missense	253012	exon2			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.464C>A	7.37:g.92844965G>T	ENSP00000377980:p.Pro155His	Somatic		Capture	Illumina HiSeq	Phase_I	92682901	NM_198151	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259180	0.80246	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.995	T	0.57825	-0.7744	10	0.51188	T	0.08	-18.2689	19.9745	0.97299	0.0:0.0:1.0:0.0	.	178;143;155;143	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	H	155;143;143;178	ENSP00000377980:P155H;ENSP00000340532:P143H;ENSP00000389592:P143H;ENSP00000390204:P178H	ENSP00000340532:P143H	P	-	2	0	HEPACAM2	92682901	1.000000	0.71417	0.732000	0.30844	0.800000	0.45204	8.054000	0.89451	2.803000	0.96430	0.591000	0.81541	CCT		0.448	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
CALCR	799	broad.mit.edu	37	7	93055725	93055725	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:93055725G>A	ENST00000394441.1	-	13	1683	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	CALCR_ENST00000359558.2_Silent_p.G490G|CALCR_ENST00000360249.4_Silent_p.G472G|CALCR_ENST00000421592.1_Silent_p.G472G|CALCR_ENST00000426151.1_Silent_p.G456G	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	490					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.G456G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CACTCTCCTCGCCTTGGTTGT	0.522																																					p.G456G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1368T	7						.						193.0	172.0	179.0					7																	93055725		2203	4300	6503	92893661	SO:0001819	synonymous_variant	799	exon14			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1368C>T	7.37:g.93055725G>A		Somatic		Capture	Illumina HiSeq	Phase_I	92893661	NM_001742	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	CCDS5631.1																																																																																				0.522	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
COL1A2	1278	broad.mit.edu	37	7	94055750	94055750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:94055750C>T	ENST00000297268.6	+	46	3484	c.3013C>T	c.(3013-3015)Cgt>Tgt	p.R1005C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1005					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R1005C(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACAAGGCATTCGTGGCGATAA	0.458										HNSCC(75;0.22)																											p.R1005C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3013T	7						.						44.0	37.0	39.0					7																	94055750		2203	4300	6503	93893686	SO:0001583	missense	1278	exon46			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3013C>T	7.37:g.94055750C>T	ENSP00000297268:p.Arg1005Cys	Somatic		Capture	Illumina HiSeq	Phase_I	93893686	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289686	0.59976	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94537	-3.45	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96562	0.9416	10	0.59425	D	0.04	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	1005	P08123	CO1A2_HUMAN	C	1005;1006	ENSP00000297268:R1005C	ENSP00000297268:R1005C	R	+	1	0	COL1A2	93893686	1.000000	0.71417	0.970000	0.41538	0.315000	0.28087	5.929000	0.70096	2.941000	0.99782	0.655000	0.94253	CGT		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
COL1A2	1278	broad.mit.edu	37	7	94055839	94055839	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:94055839C>T	ENST00000297268.6	+	46	3573	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1034					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.I1034I(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCCTGGTATCGCTGTAAGTA	0.488										HNSCC(75;0.22)																											p.I1034I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3102T	7						.						67.0	51.0	57.0					7																	94055839		2203	4300	6503	93893775	SO:0001819	synonymous_variant	1278	exon46			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3102C>T	7.37:g.94055839C>T		Somatic		Capture	Illumina HiSeq	Phase_I	93893775	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																				0.488	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
PPP1R9A	55607	broad.mit.edu	37	7	94740616	94740616	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:94740616G>A	ENST00000433881.1	+	3	1973	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E481K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E481K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E481K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E481K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E481K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	481	Interacts with protein phosphatase 1. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E481K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGAAATGACGAAGTTGACCC	0.418										HNSCC(28;0.073)																											p.E481K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441A	7						.						74.0	77.0	76.0					7																	94740616		2203	4300	6503	94578552	SO:0001583	missense	55607	exon2			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1441G>A	7.37:g.94740616G>A	ENSP00000398870:p.Glu481Lys	Somatic		Capture	Illumina HiSeq	Phase_I	94578552	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106280	0.94292	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15718	2.4;2.42;2.41;2.42;2.42;2.41	4.89	4.89	0.63831	PDZ/DHR/GLGF (1);	0.100953	0.64402	D	0.000003	T	0.36166	0.0957	M	0.64997	1.995	0.80722	D	1	P;D;D;P;P	0.60575	0.666;0.984;0.988;0.923;0.832	B;P;P;B;B	0.57371	0.148;0.721;0.819;0.137;0.079	T	0.09143	-1.0688	10	0.72032	D	0.01	.	18.6276	0.91347	0.0:0.0:1.0:0.0	.	481;481;481;481;481	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	481	ENSP00000405514:E481K;ENSP00000344524:E481K;ENSP00000411342:E481K;ENSP00000398870:E481K;ENSP00000289495:E481K;ENSP00000402893:E481K	ENSP00000289495:E481K	E	+	1	0	PPP1R9A	94578552	1.000000	0.71417	0.982000	0.44146	0.643000	0.38383	9.587000	0.98229	2.708000	0.92522	0.585000	0.79938	GAA		0.418	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PPP1R9A	55607	broad.mit.edu	37	7	94915574	94915574	+	Silent	SNP	C	C	T	rs376307508		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:94915574C>T	ENST00000433881.1	+	13	3346	c.2814C>T	c.(2812-2814)agC>agT	p.S938S	PPP1R9A_ENST00000424654.1_Silent_p.S1162S|PPP1R9A_ENST00000433360.1_Silent_p.S1222S|PPP1R9A_ENST00000340694.4_Silent_p.S938S|PPP1R9A_ENST00000289495.5_Silent_p.S1144S|PPP1R9A_ENST00000456331.2_Silent_p.S1162S			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	938	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.S1162S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGACCTCAGCGGCTTAGGAG	0.443										HNSCC(28;0.073)																											p.S938S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2814T	7						.	C	,,,,	1,4405	2.1+/-5.4	0,1,2202	100.0	87.0	91.0		3666,3432,3486,2814,2814	-7.7	0.8	7		91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	1222/1375,1144/1297,1162/1254,938/1091,938/1099	94915574	1,13005	2203	4300	6503	94753510	SO:0001819	synonymous_variant	55607	exon12			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2814C>T	7.37:g.94915574C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94753510	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																				0.443	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
LMTK2	22853	broad.mit.edu	37	7	97820088	97820088	+	Silent	SNP	G	G	A	rs200739820	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:97820088G>A	ENST00000297293.5	+	10	1340	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.P349P(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCGCACAGCCGTATTCAAACC	0.453													G|||	3	0.000599042	0.0008	0.0	5008	,	,		16470	0.0		0.0	False		,,,				2504	0.002				p.P349P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1047A	7						.	G		0,4406		0,0,2203	189.0	200.0	196.0		1047	-10.8	0.2	7		196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LMTK2	NM_014916.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		349/1504	97820088	2,13004	2203	4300	6503	97658024	SO:0001819	synonymous_variant	22853	exon10			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1047G>A	7.37:g.97820088G>A		Somatic		Capture	Illumina HiSeq	Phase_I	97658024	NM_014916	A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	CCDS5654.1																																																																																				0.453	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
BAIAP2L1	55971	broad.mit.edu	37	7	97991726	97991726	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:97991726T>C	ENST00000005260.8	-	2	285	c.70A>G	c.(70-72)Aat>Gat	p.N24D	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	24	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.N24D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCAGGATTGAACTGTTCC	0.338																																					p.N24D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A70G	7						.						75.0	80.0	79.0					7																	97991726		2203	4300	6503	97829662	SO:0001583	missense	55971	exon2			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.70A>G	7.37:g.97991726T>C	ENSP00000005260:p.Asn24Asp	Somatic		Capture	Illumina HiSeq	Phase_I	97829662	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480773	0.84747	.	.	ENSG00000006453	ENST00000005260	T	0.28666	1.6	5.45	5.45	0.79879	IRSp53/MIM homology domain (IMD) (3);	0.086690	0.85682	D	0.000000	T	0.58495	0.2126	M	0.85542	2.76	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.64867	-0.6306	10	0.72032	D	0.01	-18.7627	11.9083	0.52725	0.0:0.0:0.0:1.0	.	24	Q9UHR4	BI2L1_HUMAN	D	24	ENSP00000005260:N24D	ENSP00000005260:N24D	N	-	1	0	AC093799.1	97829662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.262000	0.72514	2.082000	0.62665	0.482000	0.46254	AAT		0.338	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
NPTX2	4885	broad.mit.edu	37	7	98254384	98254384	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:98254384G>A	ENST00000265634.3	+	3	959	c.794G>A	c.(793-795)gGc>gAc	p.G265D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	265	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.G265D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGGCATTGGCACCCCCTTC	0.597																																					p.G265D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	7						.						128.0	105.0	113.0					7																	98254384		2203	4300	6503	98092320	SO:0001583	missense	4885	exon3				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.794G>A	7.37:g.98254384G>A	ENSP00000265634:p.Gly265Asp	Somatic		Capture	Illumina HiSeq	Phase_I	98092320	NM_002523	A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958013	0.73902	.	.	ENSG00000106236	ENST00000265634	T	0.60797	0.16	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88072	0.2801	10	0.66056	D	0.02	-39.434	18.7464	0.91794	0.0:0.0:1.0:0.0	.	265	P47972	NPTX2_HUMAN	D	265	ENSP00000265634:G265D	ENSP00000265634:G265D	G	+	2	0	NPTX2	98092320	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	9.813000	0.99286	2.667000	0.90743	0.561000	0.74099	GGC		0.597	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
TMEM130	222865	broad.mit.edu	37	7	98457810	98457810	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:98457810G>A	ENST00000416379.2	-	3	547	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMEM130_ENST00000450876.1_Silent_p.F97F|TMEM130_ENST00000339375.4_Silent_p.F181F|TMEM130_ENST00000345589.4_Silent_p.F79F|TMEM130_ENST00000546258.1_Silent_p.F162F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	181	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.F181F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCGTCCCCGAAGTCCCAGC	0.582																																					p.F79F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	7						.						76.0	68.0	71.0					7																	98457810		2203	4300	6503	98295746	SO:0001819	synonymous_variant	222865	exon2				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.543C>T	7.37:g.98457810G>A		Somatic		Capture	Illumina HiSeq	Phase_I	98295746	NM_001134451	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.582	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	
ATP5J2	9551	broad.mit.edu	37	7	99055960	99055960	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99055960T>G	ENST00000292475.3	-	4	464	c.275A>C	c.(274-276)aAa>aCa	p.K92T	ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000359832.4_Missense_Mutation_p.K53T|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000449683.1_Missense_Mutation_p.K96T|ATP5J2_ENST00000394186.3_Missense_Mutation_p.K86T|ATP5J2_ENST00000488775.1_Missense_Mutation_p.K47T|ATP5J2_ENST00000544611.1_Missense_Mutation_p.K86T|ATP5J2-PTCD1_ENST00000437572.1_Intron	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	92					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)	p.K92T(1)		large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCAGTGGTATTTGCGGAGCCG	0.542																																					p.K86T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257C	7						.						70.0	54.0	59.0					7																	99055960		2203	4300	6503	98893896	SO:0001583	missense	9551	exon4			AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	848	protein-coding gene	gene with protein product	"""F1Fo-ATPase synthase f subunit"", ""ATP synthase f chain, mitochondrial"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"""		"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"""			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.275A>C	7.37:g.99055960T>G	ENSP00000292475:p.Lys92Thr	Somatic		Capture	Illumina HiSeq	Phase_I	98893896	NM_001003713	C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207925	0.58343	.	.	ENSG00000241468	ENST00000449683;ENST00000359832;ENST00000292475;ENST00000544611;ENST00000488775;ENST00000394186	.	.	.	5.08	5.08	0.68730	.	0.112845	0.56097	D	0.000022	T	0.77870	0.4195	.	.	.	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.956;0.974	D;D;P;P	0.87578	0.996;0.998;0.649;0.809	T	0.80710	-0.1261	8	0.87932	D	0	.	11.5457	0.50693	0.0:0.0:0.0:1.0	.	53;47;92;86	F8W7V3;C9J8H9;P56134;P56134-2	.;.;ATPK_HUMAN;.	T	96;53;92;86;47;86	.	ENSP00000292475:K92T	K	-	2	0	ATP5J2	98893896	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	3.067000	0.50010	2.046000	0.60703	0.459000	0.35465	AAA		0.542	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	NM_004889	
ZNF789	285989	broad.mit.edu	37	7	99084155	99084155	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99084155G>A	ENST00000331410.5	+	5	592	c.322G>A	c.(322-324)Gat>Aat	p.D108N	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D108N(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATTTTCTGAAGATTTAGAGTC	0.358																																					p.D108N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	7						.						47.0	50.0	49.0					7																	99084155		2203	4300	6503	98922091	SO:0001583	missense	285989	exon5			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.322G>A	7.37:g.99084155G>A	ENSP00000331927:p.Asp108Asn	Somatic		Capture	Illumina HiSeq	Phase_I	98922091	NM_213603	A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854749	0.51376	.	.	ENSG00000198556	ENST00000331410	T	0.05081	3.5	2.8	1.91	0.25777	.	.	.	.	.	T	0.05181	0.0138	L	0.43152	1.355	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.32481	-0.9905	9	0.19590	T	0.45	.	5.612	0.17410	0.1544:0.0:0.8456:0.0	.	108	Q5FWF6	ZN789_HUMAN	N	108	ENSP00000331927:D108N	ENSP00000331927:D108N	D	+	1	0	ZNF789	98922091	0.574000	0.26684	0.593000	0.28771	0.923000	0.55619	1.185000	0.32065	0.741000	0.32674	0.650000	0.86243	GAT		0.358	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603	
CYP3A5	1577	broad.mit.edu	37	7	99261647	99261647	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99261647A>C	ENST00000222982.4	-	8	841	c.742T>G	c.(742-744)Ttt>Gtt	p.F248V	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000343703.5_Missense_Mutation_p.F238V	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	248					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)	p.F248V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTACTTAAAAAATTTATGGTA	0.328																																					p.F248V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T742G	7						.						98.0	96.0	97.0					7																	99261647		2203	4300	6503	99099583	SO:0001583	missense	1577	exon8			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.742T>G	7.37:g.99261647A>C	ENSP00000222982:p.Phe248Val	Somatic		Capture	Illumina HiSeq	Phase_I	99099583	NM_000777	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965871	0.74131	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.70516	-0.49;-0.49	4.61	4.61	0.57282	.	0.048515	0.85682	D	0.000000	D	0.87974	0.6313	H	0.96048	3.76	0.80722	D	1	D;D	0.61080	0.986;0.989	D;D	0.74023	0.969;0.982	D	0.90929	0.4789	10	0.87932	D	0	.	11.9716	0.53067	1.0:0.0:0.0:0.0	.	238;248	F5H4S0;P20815	.;CP3A5_HUMAN	V	248;238	ENSP00000222982:F248V;ENSP00000342969:F238V	ENSP00000222982:F248V	F	-	1	0	CYP3A5	99099583	1.000000	0.71417	0.747000	0.31113	0.016000	0.09150	6.921000	0.75805	1.708000	0.51301	0.533000	0.62120	TTT		0.328	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1		
CYP3A7	1551	broad.mit.edu	37	7	99308449	99308449	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99308449C>A	ENST00000336374.2	-	10	934	c.932G>T	c.(931-933)aGc>aTc	p.S311I	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	311					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.S311I(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAGAACACTGCTCGTGGTTTC	0.408																																					p.S311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932T	7						.						93.0	83.0	87.0					7																	99308449		2203	4300	6503	99146385	SO:0001583	missense	1551	exon10			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.932G>T	7.37:g.99308449C>A	ENSP00000337450:p.Ser311Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99146385	NM_000765	A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812062	0.50527	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.75938	-0.98	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	H	0.99545	4.62	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.94924	0.8076	10	0.87932	D	0	.	13.8987	0.63790	0.0:1.0:0.0:0.0	.	311	P24462	CP3A7_HUMAN	I	311	ENSP00000337450:S311I	ENSP00000292414:S311I	S	-	2	0	CYP3A7	99146385	0.998000	0.40836	0.080000	0.20451	0.132000	0.20833	4.484000	0.60271	1.909000	0.55274	0.455000	0.32223	AGC		0.408	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
CYP3A4	1576	broad.mit.edu	37	7	99359828	99359828	+	Silent	SNP	C	C	T	rs147736753		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99359828C>T	ENST00000336411.2	-	11	1272	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	CYP3A4_ENST00000354593.2_Silent_p.T213T	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	363			T -> M (in allele CYP3A4*11; unstable form; dbSNP:rs67784355). {ECO:0000269|PubMed:11470997}.		alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.T363T(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	ATAATCTGAGCGTTTCATTCA	0.423																																					p.T363T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1089A	7						.	T	,	0,4406		0,0,2203	173.0	151.0	158.0		1086,1089	-3.0	0.1	7	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYP3A4	NM_001202855.2,NM_017460.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	362/503,363/504	99359828	1,13005	2203	4300	6503	99197764	SO:0001819	synonymous_variant	1576	exon11			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1089G>A	7.37:g.99359828C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99197764	NM_017460	P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	CCDS5674.1																																																																																				0.423	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1		
CYP3A43	64816	broad.mit.edu	37	7	99453257	99453257	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99453257C>T	ENST00000354829.2	+	8	817	c.714C>T	c.(712-714)atC>atT	p.I238I	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Silent_p.I238I|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Silent_p.I128I|CYP3A43_ENST00000222382.5_Silent_p.I238I|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	238			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.I238I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CCCTAAATATCGGTTTGTTTC	0.299																																					p.I238I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	7						.						62.0	61.0	62.0					7																	99453257		2201	4300	6501	99291193	SO:0001819	synonymous_variant	64816	exon8			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.714C>T	7.37:g.99453257C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99291193	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	CCDS5676.1																																																																																				0.299	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		
ZNF3	7551	broad.mit.edu	37	7	99668860	99668860	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99668860C>A	ENST00000424697.1	-	6	1553	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I	ZNF3_ENST00000303915.6_Missense_Mutation_p.R416I|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.R416I	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	416					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.R416I(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGTGTGAATTCTCTGATGGCG	0.488																																					p.R416I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1247T	7						.						107.0	118.0	114.0					7																	99668860		2182	4295	6477	99506796	SO:0001583	missense	7551	exon6			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1247G>T	7.37:g.99668860C>A	ENSP00000415358:p.Arg416Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99506796	NM_032924	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782127	0.49891	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.10005	2.92;2.92;2.92	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.241759	0.29737	N	0.011340	T	0.18002	0.0432	L	0.41632	1.29	0.58432	D	0.999997	D;P	0.65815	0.995;0.61	P;B	0.59546	0.859;0.222	T	0.00214	-1.1912	10	0.66056	D	0.02	-22.2903	8.6174	0.33840	0.0:0.8963:0.0:0.1037	.	399;416	B3KRP4;P17036	.;ZNF3_HUMAN	I	416	ENSP00000415358:R416I;ENSP00000306372:R416I;ENSP00000299667:R416I	ENSP00000299667:R416I	R	-	2	0	ZNF3	99506796	0.559000	0.26562	1.000000	0.80357	0.990000	0.78478	2.399000	0.44495	2.498000	0.84270	0.655000	0.94253	AGA		0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
GPC2	221914	broad.mit.edu	37	7	99773352	99773352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99773352G>A	ENST00000292377.2	-	3	658	c.491C>T	c.(490-492)gCg>gTg	p.A164V	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000426455.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	164					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A164V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGAAATCCGCCAGGGTGTC	0.602																																					p.A164V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	7						.						72.0	66.0	68.0					7																	99773352		2203	4300	6503	99611288	SO:0001583	missense	221914	exon3			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.491C>T	7.37:g.99773352G>A	ENSP00000292377:p.Ala164Val	Somatic		Capture	Illumina HiSeq	Phase_I	99611288	NM_152742	A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314504	0.23908	.	.	ENSG00000213420	ENST00000292377	T	0.51574	0.7	5.06	1.88	0.25563	.	0.398719	0.25285	N	0.031778	T	0.28764	0.0713	L	0.29908	0.895	0.21105	N	0.999789	B	0.11235	0.004	B	0.09377	0.004	T	0.11131	-1.0600	10	0.34782	T	0.22	-14.5526	3.7306	0.08491	0.1801:0.0:0.595:0.2249	.	164	Q8N158	GPC2_HUMAN	V	164	ENSP00000292377:A164V	ENSP00000292377:A164V	A	-	2	0	GPC2	99611288	0.080000	0.21391	0.997000	0.53966	0.979000	0.70002	0.557000	0.23454	0.448000	0.26722	0.306000	0.20318	GCG		0.602	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742	
GATS	352954	broad.mit.edu	37	7	99821668	99821668	+	Missense_Mutation	SNP	G	G	A	rs201151121		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:99821668G>A	ENST00000436886.2	-	3	496	c.248C>T	c.(247-249)gCg>gTg	p.A83V	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	83								p.A83V(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTGGCATCCGCCACACTCAG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17837	0.0		0.001	False		,,,				2504	0.0				p.A83V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248T	7						.						49.0	56.0	54.0					7																	99821668		2059	4194	6253	99659604	SO:0001583	missense	352954	exon3			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.248C>T	7.37:g.99821668G>A	ENSP00000389760:p.Ala83Val	Somatic		Capture	Illumina HiSeq	Phase_I	99659604	NM_178831	D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	37	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.756216	0.49362	.	.	ENSG00000160844	ENST00000436886	.	.	.	1.74	1.74	0.24563	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.31420	0.93	0.37023	D	0.896286	D	0.89917	1.0	D	0.76575	0.988	T	0.60010	-0.7346	9	0.49607	T	0.09	.	9.5269	0.39169	0.0:0.0:1.0:0.0	.	83	Q8NAP1	GATS_HUMAN	V	83	.	ENSP00000389760:A83V	A	-	2	0	GATS	99659604	1.000000	0.71417	0.962000	0.40283	0.481000	0.33189	6.301000	0.72782	0.906000	0.36621	0.173000	0.16961	GCG		0.632	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831	
ZCWPW1	55063	broad.mit.edu	37	7	100017265	100017265	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:100017265C>A	ENST00000398027.2	-	4	517	c.270G>T	c.(268-270)gaG>gaT	p.E90D	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E90D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	90							zinc ion binding (GO:0008270)	p.E90D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTTTCTTCTCTGCTTGCT	0.433																																					p.E90D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	7						.						158.0	148.0	151.0					7																	100017265		1862	4102	5964	99855201	SO:0001583	missense	55063	exon4			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.270G>T	7.37:g.100017265C>A	ENSP00000381109:p.Glu90Asp	Somatic		Capture	Illumina HiSeq	Phase_I	99855201	NM_017984	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.118434|3.118434	0.56505|0.56505	.|.	.|.	ENSG00000078487|ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559|ENST00000472716	T;T|.	0.54675|.	0.57;0.56|.	4.69|4.69	2.88|2.88	0.33553|0.33553	.|.	1.160740|.	0.06496|.	N|.	0.735432|.	T|T	0.52403|0.52403	0.1732|0.1732	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.52463|.	0.93;0.953;0.877;0.877|.	P;P;B;B|.	0.52823|.	0.71;0.551;0.411;0.411|.	T|T	0.41662|0.41662	-0.9496|-0.9496	9|5	.|.	.|.	.|.	-4.2096|-4.2096	6.9878|6.9878	0.24737|0.24737	0.0:0.7941:0.0:0.2059|0.0:0.7941:0.0:0.2059	.|.	90;90;90;90|.	B4E3W9;B4DUQ2;C9J435;Q9H0M4|.	.;.;.;ZCPW1_HUMAN|.	D|I	90|20	ENSP00000381109:E90D;ENSP00000354210:E90D|.	.|.	E|R	-|-	3|2	2|0	ZCWPW1|ZCWPW1	99855201|99855201	0.973000|0.973000	0.33851|0.33851	0.956000|0.956000	0.39512|0.39512	0.883000|0.883000	0.51084|0.51084	1.119000|1.119000	0.31258|0.31258	0.702000|0.702000	0.31825|0.31825	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.433	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
ZCWPW1	55063	broad.mit.edu	37	7	100017485	100017485	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:100017485C>A	ENST00000398027.2	-	4	297	c.50G>T	c.(49-51)aGa>aTa	p.R17I	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.R17I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	17							zinc ion binding (GO:0008270)	p.R17I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAAAGATTCTCTTTGGTCC	0.458																																					p.R17I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G50T	7						.						79.0	73.0	75.0					7																	100017485		1858	4092	5950	99855421	SO:0001583	missense	55063	exon4			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.50G>T	7.37:g.100017485C>A	ENSP00000381109:p.Arg17Ile	Somatic		Capture	Illumina HiSeq	Phase_I	99855421	NM_017984	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574102	0.45902	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.50277	0.79;0.75	4.94	3.8	0.43715	.	0.204155	0.33553	N	0.004793	T	0.27933	0.0688	N	0.22421	0.69	0.80722	D	1	B;P;P;P	0.34462	0.399;0.454;0.454;0.454	B;B;B;B	0.31686	0.134;0.067;0.067;0.067	T	0.05115	-1.0905	9	.	.	.	-8.0416	6.8869	0.24208	0.0:0.1061:0.0:0.8939	.	17;17;17;17	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	I	17	ENSP00000381109:R17I;ENSP00000354210:R17I	.	R	-	2	0	ZCWPW1	99855421	0.991000	0.36638	0.929000	0.37066	0.973000	0.67179	1.264000	0.33015	1.022000	0.39626	-0.302000	0.09304	AGA		0.458	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
SLC26A5	375611	broad.mit.edu	37	7	103015002	103015002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:103015002delA	ENST00000306312.3	-	20	2340	c.2079delT	c.(2077-2079)tttfs	p.F693fs	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Frame_Shift_Del_p.F695fs|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Frame_Shift_Del_p.F126fs|SLC26A5_ENST00000393723.1_Frame_Shift_Del_p.F663fs|SLC26A5_ENST00000393730.1_Frame_Shift_Del_p.F661fs|SLC26A5_ENST00000393729.1_Frame_Shift_Del_p.F656fs|SLC26A5_ENST00000432958.2_Frame_Shift_Del_p.F661fs|SLC26A5_ENST00000339444.6_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	693	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.F693fs*19(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAGGATTTTCAAAAAATCTAT	0.413																																					p.F661fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1983delT	7						.						65.0	68.0	67.0					7																	103015002		2203	4300	6503	102802238	SO:0001589	frameshift_variant	375611	exon19			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2079delT	7.37:g.103015002delA	ENSP00000304783:p.Phe693fs	Somatic		Capture	Illumina HiSeq	Phase_I	102802238	NM_001167962	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Frame_Shift_Del	DEL	ENST00000306312.3	37	CCDS5733.1																																																																																				0.413	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
VIPR2	7434	broad.mit.edu	37	7	158851269	158851269	+	Splice_Site	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr7:158851269T>C	ENST00000262178.2	-	5	543	c.358A>G	c.(358-360)Atc>Gtc	p.I120V	VIPR2_ENST00000402066.1_Splice_Site_p.I261V|VIPR2_ENST00000377633.3_Splice_Site_p.I104V	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	120					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.I120V(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TAAAACGTGATCTACAAAGAA	0.463																																					p.I120V	Pancreas(154;1876 1931 2329 17914 20079)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A358G	7						.						118.0	108.0	112.0					7																	158851269		2203	4300	6503	158544030	SO:0001630	splice_region_variant	7434	exon5			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.358-1A>G	7.37:g.158851269T>C		Somatic		Capture	Illumina HiSeq	Phase_I	158544030	NM_003382	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	t	0.965	-0.702148	0.03255	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.42900	1.24;0.96;1.24	5.7	1.99	0.26369	.	0.116268	0.38217	N	0.001772	T	0.25791	0.0628	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05435	-1.0885	9	.	.	.	.	7.6094	0.28120	0.0:0.2538:0.0:0.7462	.	120	P41587	VIPR2_HUMAN	V	120;104;261	ENSP00000262178:I120V;ENSP00000366860:I104V;ENSP00000384497:I261V	.	I	-	1	0	VIPR2	158544030	1.000000	0.71417	0.949000	0.38748	0.188000	0.23474	0.690000	0.25451	0.442000	0.26555	-0.295000	0.09555	ATC		0.463	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	Missense_Mutation
VPS13B	157680	broad.mit.edu	37	8	100520130	100520130	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:100520130C>A	ENST00000358544.2	+	28	4401	c.4290C>A	c.(4288-4290)ttC>ttA	p.F1430L	VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1430					protein transport (GO:0015031)			p.F1430L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTCTGGCTTCTTTCCTTCTG	0.423																																					p.F1430L	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4290A	8						.						162.0	148.0	152.0					8																	100520130		2203	4300	6503	100589306	SO:0001583	missense	157680	exon28			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4290C>A	8.37:g.100520130C>A	ENSP00000351346:p.Phe1430Leu	Somatic		Capture	Illumina HiSeq	Phase_I	100589306	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503768	0.85176	.	.	ENSG00000132549	ENST00000358544	T	0.53423	0.62	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.29908	0.895	0.80722	D	1	P;P	0.40431	0.717;0.595	B;B	0.37198	0.243;0.123	T	0.11131	-1.0600	10	0.17369	T	0.5	.	19.3814	0.94540	0.0:1.0:0.0:0.0	.	1429;1430	Q7Z7G8-6;Q7Z7G8	.;VP13B_HUMAN	L	1430	ENSP00000351346:F1430L	ENSP00000351346:F1430L	F	+	3	2	VPS13B	100589306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.465000	0.60141	2.661000	0.90470	0.591000	0.81541	TTC		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
COX6C	1345	broad.mit.edu	37	8	100899780	100899780	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:100899780C>A	ENST00000520468.2	-	3	635	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	COX6C_ENST00000523016.1_Missense_Mutation_p.D61Y|COX6C_ENST00000522940.1_Missense_Mutation_p.D61Y|COX6C_ENST00000518171.1_Missense_Mutation_p.D61Y|COX6C_ENST00000297564.2_Missense_Mutation_p.D61Y|COX6C_ENST00000517682.2_Missense_Mutation_p.D61Y|COX6C_ENST00000524245.1_Missense_Mutation_p.D61Y|COX6C_ENST00000520271.1_Missense_Mutation_p.D61Y	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	61					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.D61Y(1)	HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCCTCAAAATCTTTCATGACA	0.328			T	HMGA2	uterine leiomyoma																																p.D61Y	NSCLC(46;1123 1136 1705 23767 45086)		Dom	yes		8	8q22-q23	1345	cytochrome c oxidase subunit VIc		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181T	8						.						56.0	57.0	57.0					8																	100899780		2203	4298	6501	100968956	SO:0001583	missense	1345	exon3			X13238	CCDS6284.1	8q22.2	2011-07-04			ENSG00000164919	ENSG00000164919	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2285	protein-coding gene	gene with protein product		124090				10072584	Standard	NM_004374		Approved		uc003yiy.2	P09669	OTTHUMG00000164703	ENST00000520468.2:c.181G>T	8.37:g.100899780C>A	ENSP00000428895:p.Asp61Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	100968956	NM_004374	B2R4D7	Missense_Mutation	SNP	ENST00000520468.2	37	CCDS6284.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427278	0.43122	.	.	ENSG00000164919	ENST00000520468;ENST00000297564;ENST00000520271;ENST00000517682;ENST00000524245;ENST00000522940;ENST00000518171;ENST00000523016	.	.	.	5.57	5.57	0.84162	.	0.053762	0.85682	D	0.000000	T	0.70876	0.3274	.	.	.	0.47862	D	0.99953	B	0.27450	0.179	B	0.40477	0.33	T	0.70802	-0.4773	8	0.62326	D	0.03	.	16.4736	0.84125	0.0:1.0:0.0:0.0	.	61	P09669	COX6C_HUMAN	Y	61	.	ENSP00000297564:D61Y	D	-	1	0	COX6C	100968956	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	5.600000	0.67599	2.631000	0.89168	0.313000	0.20887	GAT		0.328	COX6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379834.3	NM_004374	
NCALD	83988	broad.mit.edu	37	8	102705047	102705047	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:102705047G>T	ENST00000311028.3	-	6	834	c.456C>A	c.(454-456)atC>atA	p.I152I	NCALD_ENST00000395923.1_Silent_p.I152I|NCALD_ENST00000220931.6_Silent_p.I152I|NCALD_ENST00000521599.1_Silent_p.I152I|NCALD_ENST00000519508.2_Silent_p.I152I|NCALD_ENST00000522951.1_Silent_p.I152I	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	152	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)	p.I152I(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCTGGCGGAAGATCTTTTCTG	0.512																																					p.I152I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456A	8						.						171.0	161.0	165.0					8																	102705047		2203	4300	6503	102774223	SO:0001819	synonymous_variant	83988	exon7			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.456C>A	8.37:g.102705047G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102774223	NM_001040624	P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	CCDS6292.1																																																																																				0.512	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2		
AZIN1	51582	broad.mit.edu	37	8	103845440	103845440	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:103845440G>T	ENST00000337198.5	-	9	1911	c.748C>A	c.(748-750)Cat>Aat	p.H250N	AZIN1_ENST00000347770.4_Missense_Mutation_p.H250N	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	250					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)	p.H250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CTGATAACATGATTAACCTAT	0.333																																					p.H250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748A	8						.						73.0	77.0	75.0					8																	103845440		2203	4300	6503	103914616	SO:0001583	missense	51582	exon10			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.748C>A	8.37:g.103845440G>T	ENSP00000337180:p.His250Asn	Somatic		Capture	Illumina HiSeq	Phase_I	103914616	NM_015878	A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	G	8.594	0.885294	0.17540	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.39592	1.07;1.07	6.08	6.08	0.98989	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (1);	0.367721	0.34507	N	0.003912	T	0.25195	0.0612	N	0.03948	-0.315	0.37747	D	0.92584	B	0.02656	0.0	B	0.04013	0.001	T	0.15321	-1.0441	10	0.21014	T	0.42	-6.9329	20.6721	0.99693	0.0:0.0:1.0:0.0	.	250	O14977	AZIN1_HUMAN	N	250	ENSP00000337180:H250N;ENSP00000321507:H250N	ENSP00000337180:H250N	H	-	1	0	AZIN1	103914616	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	2.399000	0.44495	2.894000	0.99253	0.591000	0.81541	CAT		0.333	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1		
PRSS55	203074	broad.mit.edu	37	8	10390489	10390489	+	Missense_Mutation	SNP	G	G	T	rs367685038		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:10390489G>T	ENST00000328655.3	+	4	712	c.672G>T	c.(670-672)aaG>aaT	p.K224N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.K224N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	224	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.K224N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGTGTTCAAAGATGTTTCCAA	0.463																																					p.K224N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G672T	8						.	G	ASN/LYS,ASN/LYS	0,4406		0,0,2203	128.0	114.0	118.0		672,672	1.0	0.0	8		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS55	NM_001197020.1,NM_198464.3	94,94	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	224/277,224/353	10390489	1,13005	2203	4300	6503	10427899	SO:0001583	missense	203074	exon4			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.672G>T	8.37:g.10390489G>T	ENSP00000333003:p.Lys224Asn	Somatic		Capture	Illumina HiSeq	Phase_I	10427899	NM_001197020	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621178	0.14193	0.0	1.16E-4	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88818	-2.43;-2.43	5.27	1.04	0.20106	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.219651	0.23129	N	0.051603	D	0.86008	0.5830	N	0.25094	0.71	0.09310	N	1	D	0.64830	0.994	P	0.61592	0.891	T	0.76777	-0.2834	10	0.27082	T	0.32	.	8.2203	0.31537	0.0881:0.4656:0.4462:0.0	.	224	Q6UWB4	PRS55_HUMAN	N	224	ENSP00000333003:K224N;ENSP00000430459:K224N	ENSP00000333003:K224N	K	+	3	2	PRSS55	10427899	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.068000	0.14531	0.278000	0.22164	-0.274000	0.10170	AAG		0.463	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
ATP6V1C1	528	broad.mit.edu	37	8	104068109	104068109	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:104068109G>A	ENST00000395862.3	+	8	745	c.586G>A	c.(586-588)Gac>Aac	p.D196N	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.D121N|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.D121N|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D196N	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	196					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)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.D196N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAACCACAACGACTGGATTAA	0.363																																					p.D196N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586A	8						.						117.0	102.0	107.0					8																	104068109		2203	4300	6503	104137285	SO:0001583	missense	528	exon8			X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.586G>A	8.37:g.104068109G>A	ENSP00000379203:p.Asp196Asn	Somatic		Capture	Illumina HiSeq	Phase_I	104137285	NM_001695		Missense_Mutation	SNP	ENST00000395862.3	37	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489017	0.96323	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.87328	2.875	0.80722	D	1	P	0.48834	0.916	P	0.45138	0.471	T	0.71279	-0.4640	10	0.72032	D	0.01	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	196	P21283	VATC1_HUMAN	N	121;196;121;196	ENSP00000428204:D121N;ENSP00000379203:D196N;ENSP00000430129:D121N;ENSP00000430282:D196N	ENSP00000379203:D196N	D	+	1	0	ATP6V1C1	104137285	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAC		0.363	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695	
CTHRC1	115908	broad.mit.edu	37	8	104394800	104394800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:104394800G>A	ENST00000330295.5	+	4	846	c.704G>A	c.(703-705)cGc>cAc	p.R235H	RNU6-1011P_ENST00000384668.1_RNA|CTHRC1_ENST00000520880.1_Missense_Mutation_p.R105H|RP11-1C8.6_ENST00000577199.1_lincRNA|CTHRC1_ENST00000520337.1_Missense_Mutation_p.R221H	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	235					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.R235H(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCAGTTTCTCGCATCATTATT	0.348																																					p.R235H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G704A	8						.						197.0	196.0	197.0					8																	104394800		2203	4300	6503	104463976	SO:0001583	missense	115908	exon4			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.704G>A	8.37:g.104394800G>A	ENSP00000330523:p.Arg235His	Somatic		Capture	Illumina HiSeq	Phase_I	104463976	NM_138455	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206939	0.95033	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.75589	-0.95;0.17	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88783	0.3272	10	0.87932	D	0	-3.4301	19.2674	0.93993	0.0:0.0:1.0:0.0	.	235	Q96CG8	CTHR1_HUMAN	H	235;221;221;105	ENSP00000330523:R235H;ENSP00000430550:R221H	ENSP00000297577:R221H	R	+	2	0	CTHRC1	104463976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.558000	0.86282	0.655000	0.94253	CGC		0.348	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
DCAF13	25879	broad.mit.edu	37	8	104452462	104452462	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:104452462G>A	ENST00000297579.5	+	9	1782	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	350					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R502H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATGAACATTCGCCTGTGGAAA	0.328																																					p.R502H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1505A	8						.						154.0	157.0	156.0					8																	104452462		2203	4300	6503	104521638	SO:0001583	missense	25879	exon9			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1505G>A	8.37:g.104452462G>A	ENSP00000297579:p.Arg502His	Somatic		Capture	Illumina HiSeq	Phase_I	104521638	NM_015420	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390426	0.95988	.	.	ENSG00000164934	ENST00000297579	T	0.67523	-0.27	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.91140	3.18	0.80722	D	1	D	0.65815	0.995	P	0.58577	0.841	D	0.87710	0.2566	10	0.72032	D	0.01	-16.9876	18.5005	0.90879	0.0:0.0:1.0:0.0	.	350	Q9NV06	DCA13_HUMAN	H	502	ENSP00000297579:R502H	ENSP00000297579:R502H	R	+	2	0	DCAF13	104521638	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.381000	0.79718	2.587000	0.87381	0.655000	0.94253	CGC		0.328	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
RIMS2	9699	broad.mit.edu	37	8	104897828	104897828	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:104897828G>A	ENST00000436393.2	+	2	576	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.R142Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R142Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R334Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	365	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R370Q(1)|p.R112Q(1)|p.R142Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACGCTACCGAAGTGATCCG	0.468										HNSCC(12;0.0054)																											p.R334Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1001A	8						.						94.0	93.0	93.0					8																	104897828		2020	4175	6195	104967004	SO:0001583	missense	9699	exon4			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.335G>A	8.37:g.104897828G>A	ENSP00000390665:p.Arg112Gln	Somatic		Capture	Illumina HiSeq	Phase_I	104967004	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.247752	0.95305	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.32	5.32	0.75619	.	.	.	.	.	T	0.66954	0.2842	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.98;0.999;0.996;0.998	T	0.70684	-0.4804	9	0.87932	D	0	.	18.9862	0.92771	0.0:0.0:1.0:0.0	.	365;112;142;142;334	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	334;365;334;365;142;142;142;142;112	ENSP00000427018:R334Q;ENSP00000384892:R334Q;ENSP00000425205:R142Q;ENSP00000262231:R142Q;ENSP00000423559:R142Q;ENSP00000386228:R142Q;ENSP00000390665:R112Q	ENSP00000262231:R142Q	R	+	2	0	RIMS2	104967004	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.789000	0.85783	2.479000	0.83701	0.467000	0.42956	CGA		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RIMS2	9699	broad.mit.edu	37	8	104928656	104928656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:104928656G>T	ENST00000436393.2	+	6	1502	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	RIMS2_ENST00000507740.1_Nonsense_Mutation_p.E451*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.E498*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.E643*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	721					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.E726*(1)|p.E451*(1)|p.E421*(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGAAGTATTAGAATGGAATGG	0.343										HNSCC(12;0.0054)																											p.E643X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G1927T	8						.						93.0	85.0	87.0					8																	104928656		1844	4090	5934	104997832	SO:0001587	stop_gained	9699	exon8			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1261G>T	8.37:g.104928656G>T	ENSP00000390665:p.Glu421*	Somatic		Capture	Illumina HiSeq	Phase_I	104997832	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	39	7.831877	0.98513	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7228	0.85414	0.0:0.1295:0.8705:0.0	.	.	.	.	X	643;674;643;721;34;451;498;451;451;421	.	ENSP00000262231:E498X	E	+	1	0	RIMS2	104997832	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.869000	0.99810	1.393000	0.46605	0.585000	0.79938	GAA		0.343	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RP1L1	94137	broad.mit.edu	37	8	10480614	10480614	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:10480614G>T	ENST00000382483.3	-	2	321	c.98C>A	c.(97-99)gCc>gAc	p.A33D	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	33					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A33D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GATCTTCTTGGCTGGCGTGAC	0.642																																					p.A33D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C98A	8						.						40.0	45.0	43.0					8																	10480614		2064	4182	6246	10518024	SO:0001583	missense	94137	exon2			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.98C>A	8.37:g.10480614G>T	ENSP00000371923:p.Ala33Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10518024	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.577079	0.86645	.	.	ENSG00000183638	ENST00000382483	D	0.88586	-2.4	4.65	4.65	0.58169	.	.	.	.	.	D	0.93588	0.7953	M	0.67397	2.05	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.94316	0.7549	9	0.87932	D	0	-20.8968	16.6773	0.85282	0.0:0.0:1.0:0.0	.	33	A6NKC6	.	D	33	ENSP00000371923:A33D	ENSP00000371923:A33D	A	-	2	0	RP1L1	10518024	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.234000	0.78134	2.412000	0.81896	0.457000	0.33378	GCC		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RIMS2	9699	broad.mit.edu	37	8	104948863	104948863	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:104948863C>T	ENST00000436393.2	+	11	2035	c.1794C>T	c.(1792-1794)caC>caT	p.H598H	RIMS2_ENST00000507740.1_Silent_p.H612H|RIMS2_ENST00000262231.10_Silent_p.H659H|RIMS2_ENST00000406091.3_Silent_p.H820H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	882					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.H887H(1)|p.H612H(1)|p.H598H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCAGTCCACCGAAGAGAAT	0.388										HNSCC(12;0.0054)																											p.H820H												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2460T	8						.						123.0	115.0	117.0					8																	104948863		1846	4086	5932	105018039	SO:0001819	synonymous_variant	9699	exon13			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1794C>T	8.37:g.104948863C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105018039	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																					0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
C8orf74	203076	broad.mit.edu	37	8	10557975	10557975	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:10557975G>A	ENST00000304519.5	+	4	908	c.879G>A	c.(877-879)agG>agA	p.R293R	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	293								p.R293R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CGAAGGCAAGGAAGTAGAAGG	0.617																																					p.R293R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G879A	8						.						32.0	40.0	38.0					8																	10557975		2054	4189	6243	10595385	SO:0001819	synonymous_variant	203076	exon4			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.879G>A	8.37:g.10557975G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10595385	NM_001040032	A2RUD6	Silent	SNP	ENST00000304519.5	37	CCDS47800.1																																																																																				0.617	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032	
LRP12	29967	broad.mit.edu	37	8	105509209	105509209	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:105509209A>G	ENST00000276654.5	-	5	1679	c.1571T>C	c.(1570-1572)tTt>tCt	p.F524S	LRP12_ENST00000424843.2_Missense_Mutation_p.F505S|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	524					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.F524S(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTTCTTTCAAACATTCTCAG	0.408																																					p.F524S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1571C	8						.						78.0	72.0	74.0					8																	105509209		2203	4300	6503	105578385	SO:0001583	missense	29967	exon5			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1571T>C	8.37:g.105509209A>G	ENSP00000276654:p.Phe524Ser	Somatic		Capture	Illumina HiSeq	Phase_I	105578385	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198106	0.38806	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.93189	-1.74;-1.67;-3.18	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.991;0.986	D	0.91088	0.4904	10	0.21540	T	0.41	-27.4995	16.1606	0.81704	1.0:0.0:0.0:0.0	.	505;524	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	505;524;113	ENSP00000399148:F505S;ENSP00000276654:F524S;ENSP00000429305:F113S	ENSP00000276654:F524S	F	-	2	0	LRP12	105578385	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.141000	0.77330	2.227000	0.72691	0.460000	0.39030	TTT		0.408	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
PKHD1L1	93035	broad.mit.edu	37	8	110457666	110457666	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:110457666C>A	ENST00000378402.5	+	38	5672	c.5568C>A	c.(5566-5568)ttC>ttA	p.F1856L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1856	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F1858L(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAATGGCTTCTATCCAGGCA	0.502										HNSCC(38;0.096)																											p.F1856L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5568A	8						.						69.0	70.0	70.0					8																	110457666		1975	4161	6136	110526842	SO:0001583	missense	93035	exon38			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5568C>A	8.37:g.110457666C>A	ENSP00000367655:p.Phe1856Leu	Somatic		Capture	Illumina HiSeq	Phase_I	110526842	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867200	0.51588	.	.	ENSG00000205038	ENST00000378402	D	0.83837	-1.77	5.91	2.14	0.27477	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	L	0.50993	1.605	0.20764	N	0.999857	D	0.60160	0.987	D	0.77557	0.99	T	0.75958	-0.3134	10	0.54805	T	0.06	.	7.7673	0.28986	0.0:0.5814:0.0:0.4186	.	1856	Q86WI1	PKHL1_HUMAN	L	1856	ENSP00000367655:F1856L	ENSP00000367655:F1856L	F	+	3	2	PKHD1L1	110526842	0.007000	0.16637	0.212000	0.23672	0.898000	0.52572	0.012000	0.13287	0.117000	0.18138	-0.768000	0.03414	TTC		0.502	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110461704	110461704	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:110461704C>A	ENST00000378402.5	+	40	6267	c.6163C>A	c.(6163-6165)Cca>Aca	p.P2055T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2055	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P2057T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTGAAATTCCATCTAATAA	0.303										HNSCC(38;0.096)																											p.P2055T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6163A	8						.						53.0	52.0	52.0					8																	110461704		1821	4077	5898	110530880	SO:0001583	missense	93035	exon40			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6163C>A	8.37:g.110461704C>A	ENSP00000367655:p.Pro2055Thr	Somatic		Capture	Illumina HiSeq	Phase_I	110530880	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452678	0.84209	.	.	ENSG00000205038	ENST00000378402	D	0.85861	-2.04	5.32	5.32	0.75619	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.143559	0.46758	D	0.000267	D	0.92312	0.7561	M	0.81802	2.56	0.43667	D	0.996095	D	0.76494	0.999	D	0.73708	0.981	D	0.92951	0.6380	10	0.62326	D	0.03	.	16.4814	0.84158	0.0:1.0:0.0:0.0	.	2055	Q86WI1	PKHL1_HUMAN	T	2055	ENSP00000367655:P2055T	ENSP00000367655:P2055T	P	+	1	0	PKHD1L1	110530880	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.661000	0.68025	2.488000	0.83962	0.591000	0.81541	CCA		0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
GATA4	2626	broad.mit.edu	37	8	11606509	11606509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:11606509C>T	ENST00000335135.4	+	3	1256	c.698C>T	c.(697-699)aCg>aTg	p.T233M	GATA4_ENST00000532059.1_Missense_Mutation_p.T234M|GATA4_ENST00000528712.1_Missense_Mutation_p.T27M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	233					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T233M(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGAGATGGGACGGGTCACTAT	0.587																																					p.T233M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	8						.						117.0	108.0	111.0					8																	11606509		2203	4300	6503	11643918	SO:0001583	missense	2626	exon3			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.698C>T	8.37:g.11606509C>T	ENSP00000334458:p.Thr233Met	Somatic		Capture	Illumina HiSeq	Phase_I	11643918	NM_002052	B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101546	0.94245	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01	5.61	5.61	0.85477	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.99	D	0.99892	1.1138	10	0.87932	D	0	-23.4441	18.9896	0.92786	0.0:1.0:0.0:0.0	.	234;233	B7ZKZ4;P43694	.;GATA4_HUMAN	M	27;27;233;232;234	ENSP00000435043:T27M;ENSP00000435347:T27M;ENSP00000334458:T233M;ENSP00000435712:T234M	ENSP00000259090:T232M	T	+	2	0	GATA4	11643918	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	7.546000	0.82137	2.793000	0.96121	0.655000	0.94253	ACG		0.587	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052	
CSMD3	114788	broad.mit.edu	37	8	113702205	113702205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:113702205G>A	ENST00000297405.5	-	14	2291	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	CSMD3_ENST00000455883.2_Missense_Mutation_p.R579C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R683C|CSMD3_ENST00000343508.3_Missense_Mutation_p.R643C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	683	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R683C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACATCACGATTAGAAAAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R683C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2047T	8						.						167.0	174.0	172.0					8																	113702205		2203	4300	6503	113771381	SO:0001583	missense	114788	exon14			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2047C>T	8.37:g.113702205G>A	ENSP00000297405:p.Arg683Cys	Somatic		Capture	Illumina HiSeq	Phase_I	113771381	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344835	0.61073	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.96	4.03	0.46877	Complement control module (2);Sushi/SCR/CCP (3);	0.081502	0.49916	D	0.000133	T	0.72228	0.3434	L	0.58354	1.805	0.44373	D	0.997271	D;D;D	0.89917	0.999;0.997;1.0	P;P;D	0.69142	0.886;0.901;0.962	T	0.74031	-0.3795	10	0.66056	D	0.02	.	10.9658	0.47412	0.0:0.1381:0.7194:0.1425	.	579;683;643	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	643;683;23;579;683	ENSP00000345799:R643C;ENSP00000297405:R683C;ENSP00000341558:R23C;ENSP00000412263:R579C;ENSP00000343124:R683C	ENSP00000297405:R683C	R	-	1	0	CSMD3	113771381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.007000	0.57093	2.456000	0.83038	0.484000	0.47621	CGT		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	broad.mit.edu	37	8	116631997	116631997	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:116631997A>G	ENST00000220888.5	-	2	448	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Missense_Mutation_p.F110L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F101L|TRPS1_ENST00000519674.1_Missense_Mutation_p.F97L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	97					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F97L(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAGGAGGGAAAGTTTCCTCCC	0.483									Langer-Giedion syndrome																												p.F110L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T328C	8						.						86.0	83.0	84.0					8																	116631997		1929	4134	6063	116701172	SO:0001583	missense	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.289T>C	8.37:g.116631997A>G	ENSP00000220888:p.Phe97Leu	Somatic		Capture	Illumina HiSeq	Phase_I	116701172	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	A	2.651	-0.281960	0.05642	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674;ENST00000395713	D;D;D;T	0.97665	-4.48;-4.45;-4.45;1.34	5.82	2.88	0.33553	.	0.423635	0.22220	N	0.062966	D	0.87744	0.6254	N	0.08118	0	0.22378	N	0.999156	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.76498	-0.2937	10	0.02654	T	1	-11.5131	4.4627	0.11673	0.0863:0.3186:0.4713:0.1237	.	101;97;110	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	L	110;97;101;97;110	ENSP00000379065:F110L;ENSP00000220888:F97L;ENSP00000428680:F101L;ENSP00000429174:F97L	ENSP00000220888:F97L	F	-	1	0	TRPS1	116701172	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.591000	0.46163	1.468000	0.48064	-0.147000	0.13772	TTT		0.483	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
SLC30A8	169026	broad.mit.edu	37	8	118183325	118183325	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:118183325C>T	ENST00000456015.2	+	7	882	c.882C>T	c.(880-882)gtC>gtT	p.V294V	SLC30A8_ENST00000519688.1_Silent_p.V245V|SLC30A8_ENST00000427715.2_Silent_p.V245V|SLC30A8_ENST00000521243.1_Silent_p.V245V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	294					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.V294V(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTTTAGCAGTCGACGGGGTGC	0.443																																					p.V294V	Ovarian(162;1202 1922 6011 16223 52092)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C882T	8						.						171.0	157.0	162.0					8																	118183325		2203	4300	6503	118252506	SO:0001819	synonymous_variant	169026	exon7				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.882C>T	8.37:g.118183325C>T		Somatic		Capture	Illumina HiSeq	Phase_I	118252506	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	CCDS6322.1																																																																																				0.443	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
EXT1	2131	broad.mit.edu	37	8	119122978	119122978	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:119122978C>T	ENST00000378204.2	-	1	1114	c.308G>A	c.(307-309)tGc>tAc	p.C103Y		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	103					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.C103Y(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GAAATCGAAGCAGGACTCCAT	0.488			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.C103Y		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G308A	8						.						80.0	79.0	79.0					8																	119122978		2203	4300	6503	119192159	SO:0001583	missense	2131	exon1	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.308G>A	8.37:g.119122978C>T	ENSP00000367446:p.Cys103Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	119192159	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841186	0.71488	.	.	ENSG00000182197	ENST00000378204	D	0.99311	-5.73	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99457	1.0942	10	0.87932	D	0	-0.889	19.3217	0.94243	0.0:1.0:0.0:0.0	.	103	Q16394	EXT1_HUMAN	Y	103	ENSP00000367446:C103Y	ENSP00000367446:C103Y	C	-	2	0	EXT1	119192159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.709000	0.84645	2.558000	0.86282	0.462000	0.41574	TGC		0.488	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
DEPTOR	64798	broad.mit.edu	37	8	120940719	120940719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:120940719G>T	ENST00000286234.5	+	2	332	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	68	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.E68*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TGTCGCAAAAGAACTGATTGA	0.418																																					p.E68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G202T	8						.						126.0	121.0	123.0					8																	120940719		2203	4300	6503	121009900	SO:0001587	stop_gained	64798	exon2				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.202G>T	8.37:g.120940719G>T	ENSP00000286234:p.Glu68*	Somatic		Capture	Illumina HiSeq	Phase_I	121009900	NM_022783	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Nonsense_Mutation	SNP	ENST00000286234.5	37	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	38	7.116288	0.98074	.	.	ENSG00000155792	ENST00000286234	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.1704	20.3645	0.98876	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000286234:E68X	E	+	1	0	DEPTOR	121009900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.821000	0.97095	0.561000	0.74099	GAA		0.418	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	
COL14A1	7373	broad.mit.edu	37	8	121267554	121267554	+	Missense_Mutation	SNP	G	G	A	rs201867541		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:121267554G>A	ENST00000297848.3	+	23	3098	c.2828G>A	c.(2827-2829)cGc>cAc	p.R943H	COL14A1_ENST00000247781.3_Missense_Mutation_p.R848H|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R943H	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R943H(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGTACATCGCCATGCCACA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		17956	0.001		0.0	False		,,,				2504	0.0				p.R943H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2828A	8						.						146.0	126.0	133.0					8																	121267554		2203	4300	6503	121336735	SO:0001583	missense	7373	exon23				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2828G>A	8.37:g.121267554G>A	ENSP00000297848:p.Arg943His	Somatic		Capture	Illumina HiSeq	Phase_I	121336735	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.38	3.611858	0.66558	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.49	3.67	0.42095	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.295047	0.34223	N	0.004141	T	0.61413	0.2345	M	0.61703	1.905	0.80722	D	1	D;B	0.69078	0.997;0.021	P;B	0.51974	0.686;0.008	T	0.64694	-0.6347	10	0.62326	D	0.03	.	9.2255	0.37405	0.2184:0.0:0.7816:0.0	.	943;943	Q05707-2;Q05707	.;COEA1_HUMAN	H	943;943;848;756	ENSP00000311809:R943H;ENSP00000297848:R943H;ENSP00000247781:R848H;ENSP00000409461:R756H	ENSP00000247781:R848H	R	+	2	0	COL14A1	121336735	0.996000	0.38824	0.564000	0.28396	0.785000	0.44390	3.557000	0.53741	1.464000	0.47987	0.555000	0.69702	CGC		0.433	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121357617	121357617	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:121357617A>G	ENST00000297848.3	+	45	5162	c.4892A>G	c.(4891-4893)cAc>cGc	p.H1631R	COL14A1_ENST00000247781.3_Missense_Mutation_p.H1536R|COL14A1_ENST00000309791.4_Missense_Mutation_p.H1631R	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.H1631R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCTCAGGTCACATGGCCAGG	0.532																																					p.H1631R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4892G	8						.						94.0	84.0	87.0					8																	121357617		2203	4300	6503	121426798	SO:0001583	missense	7373	exon45				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4892A>G	8.37:g.121357617A>G	ENSP00000297848:p.His1631Arg	Somatic		Capture	Illumina HiSeq	Phase_I	121426798	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471865	0.63737	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.87029	-2.08;-2.12;-2.2	5.39	5.39	0.77823	.	0.133540	0.64402	D	0.000002	D	0.88862	0.6552	L	0.57536	1.79	0.80722	D	1	P	0.44946	0.846	P	0.53490	0.727	D	0.86034	0.1515	10	0.18276	T	0.48	.	13.6924	0.62553	1.0:0.0:0.0:0.0	.	1631	Q05707	COEA1_HUMAN	R	1631;1631;1536	ENSP00000311809:H1631R;ENSP00000297848:H1631R;ENSP00000247781:H1536R	ENSP00000247781:H1536R	H	+	2	0	COL14A1	121426798	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.903000	0.87398	2.058000	0.61347	0.454000	0.30748	CAC		0.532	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
MTBP	27085	broad.mit.edu	37	8	121468906	121468906	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:121468906G>T	ENST00000305949.1	+	7	788	c.743G>T	c.(742-744)aGa>aTa	p.R248I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	248					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.R248I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATATGGGAAAGAAAGGTAAAT	0.303																																					p.R248I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G743T	8						.						96.0	111.0	106.0					8																	121468906		2203	4291	6494	121538087	SO:0001583	missense	27085	exon7				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.743G>T	8.37:g.121468906G>T	ENSP00000303398:p.Arg248Ile	Somatic		Capture	Illumina HiSeq	Phase_I	121538087	NM_022045	B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399901	0.83120	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.56	5.56	0.83823	.	0.057378	0.64402	D	0.000002	T	0.79857	0.4518	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81276	-0.1006	9	0.87932	D	0	-23.4823	19.5296	0.95223	0.0:0.0:1.0:0.0	.	248	Q96DY7	MTBP_HUMAN	I	248	.	ENSP00000303398:R248I	R	+	2	0	MTBP	121538087	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.111000	0.57838	2.624000	0.88883	0.453000	0.30009	AGA		0.303	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045	
ZHX2	22882	broad.mit.edu	37	8	123965500	123965500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:123965500C>T	ENST00000314393.4	+	3	2585	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	584					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R584*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGAAGCTTCGAGACAGCAT	0.547																																					p.R584X	Esophageal Squamous(94;1056 1388 11767 13799 49639)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1750T	8						.						65.0	66.0	65.0					8																	123965500		2203	4300	6503	124034681	SO:0001587	stop_gained	22882	exon3			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1750C>T	8.37:g.123965500C>T	ENSP00000314709:p.Arg584*	Somatic		Capture	Illumina HiSeq	Phase_I	124034681	NM_014943		Nonsense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	45	11.463724	0.99564	.	.	ENSG00000178764	ENST00000314393	.	.	.	5.94	4.02	0.46733	.	0.051059	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8185	8.3009	0.32014	0.337:0.5498:0.1133:0.0	.	.	.	.	X	584	.	ENSP00000314709:R584X	R	+	1	2	ZHX2	124034681	0.964000	0.33143	1.000000	0.80357	0.986000	0.74619	1.489000	0.35562	2.826000	0.97356	0.561000	0.74099	CGA		0.547	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
TATDN1	83940	broad.mit.edu	37	8	125520868	125520868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:125520868G>A	ENST00000276692.6	-	7	488	c.451C>T	c.(451-453)Cga>Tga	p.R151*	TATDN1_ENST00000517678.1_Nonsense_Mutation_p.R97*|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Nonsense_Mutation_p.R104*|TATDN1_ENST00000605953.1_Nonsense_Mutation_p.R151*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	151					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R151*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGAGTTTCGACAATGAAGA	0.284																																					p.R104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C310T	8						.						53.0	50.0	51.0					8																	125520868		2203	4294	6497	125590049	SO:0001587	stop_gained	83940	exon5			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.451C>T	8.37:g.125520868G>A	ENSP00000276692:p.Arg151*	Somatic		Capture	Illumina HiSeq	Phase_I	125590049	NM_001146160	B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324083|5.324083	0.95708|0.95708	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678;ENST00000523888;ENST00000523152|ENST00000519232	.|.	.|.	.|.	5.72|5.72	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63236	.|0.2494	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68447	.|-0.5406	.|3	0.02654|.	T|.	1|.	-12.2863|-12.2863	13.4534|13.4534	0.61184|0.61184	0.0:0.0:0.7313:0.2686|0.0:0.0:0.7313:0.2686	.|.	.|.	.|.	.|.	X|L	151;104;151;97;104;91|180	.|.	ENSP00000276692:R151X|.	R|S	-|-	1|2	2|0	TATDN1|TATDN1	125590049|125590049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.347000|3.347000	0.52200|0.52200	2.705000|2.705000	0.92388|0.92388	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.284	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
NDUFB9	4715	broad.mit.edu	37	8	125559331	125559331	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:125559331C>T	ENST00000276689.3	+	3	469	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	NDUFB9_ENST00000518008.1_Missense_Mutation_p.R129W|NDUFB9_ENST00000522532.1_Missense_Mutation_p.R129W|NDUFB9_ENST00000517367.1_Missense_Mutation_p.R118W	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	129					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R129W(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAGAAACTGCGGAGGGAAAG	0.483																																					p.R129W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C385T	8						.						207.0	209.0	208.0					8																	125559331		2203	4300	6503	125628512	SO:0001583	missense	4715	exon3			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.385C>T	8.37:g.125559331C>T	ENSP00000276689:p.Arg129Trp	Somatic		Capture	Illumina HiSeq	Phase_I	125628512	NM_005005	B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632984	0.47049	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.84146	-0.77;-1.81;-1.8;-0.72	5.2	4.3	0.51218	.	0.246918	0.39615	N	0.001320	D	0.88310	0.6402	M	0.65975	2.015	0.53688	D	0.999971	D;D	0.63880	0.993;0.992	P;P	0.53809	0.735;0.632	D	0.88426	0.3032	10	0.51188	T	0.08	-15.1156	14.6488	0.68780	0.1512:0.8488:0.0:0.0	.	129;129	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	W	129;129;129;118	ENSP00000276689:R129W;ENSP00000428282:R129W;ENSP00000431115:R129W;ENSP00000430322:R118W	ENSP00000276689:R129W	R	+	1	2	NDUFB9	125628512	1.000000	0.71417	0.984000	0.44739	0.071000	0.16799	3.683000	0.54663	1.134000	0.42165	0.467000	0.42956	CGG		0.483	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005	
SQLE	6713	broad.mit.edu	37	8	126034024	126034024	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:126034024G>A	ENST00000265896.5	+	11	2460	c.1562G>A	c.(1561-1563)gGa>gAa	p.G521E	SQLE_ENST00000523430.1_Missense_Mutation_p.G426E	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	521					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.G520E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GTTTTAATTGGACACTTCTTT	0.358																																					p.W521X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1563A	8						.						119.0	102.0	107.0					8																	126034024		1830	4077	5907	126103206	SO:0001583	missense	6713	exon11			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1562G>A	8.37:g.126034024G>A	ENSP00000265896:p.Gly521Glu	Somatic		Capture	Illumina HiSeq	Phase_I	126103206	NM_003129	Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010244	0.75046	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.6	5.6	0.85130	Squalene epoxidase (1);	0.045842	0.85682	D	0.000000	D	0.82917	0.5141	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.80480	-0.1364	9	0.31617	T	0.26	-8.697	19.9737	0.97296	0.0:0.0:1.0:0.0	.	521	Q14534	ERG1_HUMAN	E	426;521;326	.	ENSP00000265896:G521E	G	+	2	0	SQLE	126103206	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	9.813000	0.99286	2.793000	0.96121	0.591000	0.81541	GGA		0.358	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	
DLC1	10395	broad.mit.edu	37	8	12957110	12957110	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:12957110G>A	ENST00000276297.4	-	9	3145	c.2736C>T	c.(2734-2736)caC>caT	p.H912H	DLC1_ENST00000512044.2_Silent_p.H509H|DLC1_ENST00000520226.1_Silent_p.H401H|DLC1_ENST00000358919.2_Silent_p.H475H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	912					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.H912H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCCCTTCACGTGGTAGAGGA	0.587																																					p.H912H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2736T	8						.						82.0	73.0	76.0					8																	12957110		2203	4300	6503	13001481	SO:0001819	synonymous_variant	10395	exon9			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2736C>T	8.37:g.12957110G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13001481	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TRIB1	10221	broad.mit.edu	37	8	126445615	126445615	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:126445615G>A	ENST00000311922.3	+	2	999	c.417G>A	c.(415-417)tcG>tcA	p.S139S	TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1			tribbles pseudokinase 1									p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493																																					p.S139S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G417A	8						.						193.0	194.0	194.0					8																	126445615		2203	4300	6503	126514797	SO:0001819	synonymous_variant	10221	exon2			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000311922.3:c.417G>A	8.37:g.126445615G>A		Somatic		Capture	Illumina HiSeq	Phase_I	126514797	NM_025195		Silent	SNP	ENST00000311922.3	37	CCDS6357.1																																																																																				0.493	TRIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381430.1	NM_025195	
GSDMC	56169	broad.mit.edu	37	8	130789711	130789711	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:130789711C>A	ENST00000276708.4	-	2	1004	c.123G>T	c.(121-123)aaG>aaT	p.K41N		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	41						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.K41N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AATCCTTCTTCTTTCGTAATA	0.393																																					p.K41N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G123T	8						.						155.0	143.0	147.0					8																	130789711		2203	4300	6503	130858893	SO:0001583	missense	56169	exon2			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.123G>T	8.37:g.130789711C>A	ENSP00000276708:p.Lys41Asn	Somatic		Capture	Illumina HiSeq	Phase_I	130858893	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380352	0.42207	.	.	ENSG00000147697	ENST00000276708	T	0.32515	1.45	4.01	2.05	0.26809	.	0.574909	0.16633	N	0.205949	T	0.41994	0.1183	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.13335	-1.0513	10	0.72032	D	0.01	.	6.4702	0.22003	0.2102:0.5862:0.2036:0.0	.	41	Q9BYG8	GSDMC_HUMAN	N	41	ENSP00000276708:K41N	ENSP00000276708:K41N	K	-	3	2	GSDMC	130858893	0.021000	0.18746	0.001000	0.08648	0.011000	0.07611	0.901000	0.28445	0.394000	0.25230	0.491000	0.48974	AAG		0.393	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		
ADCY8	114	broad.mit.edu	37	8	131792905	131792905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:131792905C>A	ENST00000286355.5	-	18	5579	c.3487G>T	c.(3487-3489)Gga>Tga	p.G1163*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.G1032*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1163					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.G1163*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGATTTTTCCTTCCTGTTCA	0.512										HNSCC(32;0.087)																											p.G1163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3487T	8						.						191.0	199.0	196.0					8																	131792905		2203	4300	6503	131862087	SO:0001587	stop_gained	114	exon18			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3487G>T	8.37:g.131792905C>A	ENSP00000286355:p.Gly1163*	Somatic		Capture	Illumina HiSeq	Phase_I	131862087	NM_001115		Nonsense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	55	23.587680	0.99956	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0195	0.92908	0.0:1.0:0.0:0.0	.	.	.	.	X	1163;1032	.	ENSP00000286355:G1163X	G	-	1	0	ADCY8	131862087	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.659000	0.83766	2.746000	0.94184	0.655000	0.94253	GGA		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
EFR3A	23167	broad.mit.edu	37	8	133008661	133008661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:133008661C>T	ENST00000254624.5	+	19	2299	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R692*|EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R656*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	692						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.R692*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGATGAAGATCGACTTTCTAG	0.308																																					p.R692X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2074T	8						.						79.0	79.0	79.0					8																	133008661		2203	4300	6503	133077843	SO:0001587	stop_gained	23167	exon19			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2074C>T	8.37:g.133008661C>T	ENSP00000254624:p.Arg692*	Somatic		Capture	Illumina HiSeq	Phase_I	133077843	NM_015137	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Nonsense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	43	10.109631	0.99338	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	6.06	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1048	7.7682	0.28993	0.1395:0.7185:0.0:0.142	.	.	.	.	X	692;71;648;692;656	.	ENSP00000254624:R692X	R	+	1	2	EFR3A	133077843	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.360000	0.59455	0.908000	0.36671	0.650000	0.86243	CGA		0.308	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	
PHF20L1	51105	broad.mit.edu	37	8	133854875	133854875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:133854875G>T	ENST00000395386.2	+	19	2802	c.2503G>T	c.(2503-2505)Gaa>Taa	p.E835*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E810*|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.E222*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	835							zinc ion binding (GO:0008270)	p.E809*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TAATCGAGAAGAAAAGAAATA	0.398																																					p.E835X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2503T	8						.						54.0	51.0	52.0					8																	133854875		1826	4077	5903	133924057	SO:0001587	stop_gained	51105	exon19			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2503G>T	8.37:g.133854875G>T	ENSP00000378784:p.Glu835*	Somatic		Capture	Illumina HiSeq	Phase_I	133924057	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	37	6.542199	0.97650	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.11	4.23	0.50019	.	1.210320	0.06462	U	0.729579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-22.9445	9.2255	0.37405	0.1643:0.0:0.8357:0.0	.	.	.	.	X	835;222;810	.	ENSP00000220847:E222X	E	+	1	0	PHF20L1	133924057	0.991000	0.36638	0.364000	0.25888	0.719000	0.41307	3.138000	0.50570	1.291000	0.44653	0.650000	0.86243	GAA		0.398	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
DLC1	10395	broad.mit.edu	37	8	13356915	13356915	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:13356915C>A	ENST00000276297.4	-	2	1075	c.666G>T	c.(664-666)gaG>gaT	p.E222D	DLC1_ENST00000511869.1_Missense_Mutation_p.E222D|DLC1_ENST00000316609.5_Missense_Mutation_p.E222D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	222					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E222D(4)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCAATTGTTTCTCAGGTGCAA	0.388																																					p.E222D												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G666T	8						.						153.0	150.0	151.0					8																	13356915		2203	4300	6503	13401286	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.666G>T	8.37:g.13356915C>A	ENSP00000276297:p.Glu222Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13401286	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897491	0.33535	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.15834	3.35;2.39;2.41	4.84	2.99	0.34606	.	0.000000	0.41500	D	0.000866	T	0.28400	0.0702	L	0.54323	1.7	0.27104	N	0.962555	D;D;P	0.76494	0.997;0.999;0.849	D;D;B	0.68353	0.957;0.945;0.237	T	0.03524	-1.1028	10	0.28530	T	0.3	.	6.8222	0.23862	0.0:0.6827:0.1477:0.1696	.	222;222;222	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	D	222	ENSP00000276297:E222D;ENSP00000321034:E222D;ENSP00000425878:E222D	ENSP00000276297:E222D	E	-	3	2	DLC1	13401286	1.000000	0.71417	0.994000	0.49952	0.170000	0.22686	0.642000	0.24735	1.342000	0.45619	0.655000	0.94253	GAG		0.388	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	broad.mit.edu	37	8	13357078	13357078	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:13357078C>T	ENST00000276297.4	-	2	912	c.503G>A	c.(502-504)gGt>gAt	p.G168D	DLC1_ENST00000511869.1_Missense_Mutation_p.G168D|DLC1_ENST00000316609.5_Missense_Mutation_p.G168D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	168					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.G168D(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCAGTTTCACCAGCTATTCC	0.413																																					p.G168D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G503A	8						.						126.0	132.0	130.0					8																	13357078		2202	4299	6501	13401449	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.503G>A	8.37:g.13357078C>T	ENSP00000276297:p.Gly168Asp	Somatic		Capture	Illumina HiSeq	Phase_I	13401449	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	1.812	-0.474353	0.04414	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.55930	0.49;0.49;0.49	5.12	2.33	0.28932	.	0.319639	0.22850	N	0.054878	T	0.38026	0.1025	L	0.41824	1.3	0.09310	N	1	B;B;B	0.28178	0.007;0.202;0.002	B;B;B	0.26202	0.024;0.067;0.002	T	0.21008	-1.0258	10	0.39692	T	0.17	.	5.9772	0.19387	0.0:0.5354:0.2545:0.2101	.	168;168;168	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	D	168	ENSP00000276297:G168D;ENSP00000321034:G168D;ENSP00000425878:G168D	ENSP00000276297:G168D	G	-	2	0	DLC1	13401449	0.000000	0.05858	0.072000	0.20136	0.032000	0.12392	-0.165000	0.09968	0.419000	0.25927	-0.123000	0.14984	GGT		0.413	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TG	7038	broad.mit.edu	37	8	133912557	133912557	+	Missense_Mutation	SNP	C	C	T	rs116642273	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:133912557C>T	ENST00000220616.4	+	15	3446	c.3406C>T	c.(3406-3408)Cgg>Tgg	p.R1136W	TG_ENST00000377869.1_Missense_Mutation_p.R1136W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1136	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R1136W(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAAGAGTTGCGGCCTGGCTC	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18696	0.0		0.0	False		,,,				2504	0.0				p.R1136W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3406T	8						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	56.0	61.0		3406	2.7	0.0	8	dbSNP_132	61	0,8600		0,0,4300	no	missense	TG	NM_003235.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1136/2769	133912557	1,13005	2203	4300	6503	133981739	SO:0001583	missense	7038	exon15			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3406C>T	8.37:g.133912557C>T	ENSP00000220616:p.Arg1136Trp	Somatic		Capture	Illumina HiSeq	Phase_I	133981739	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	16.90	3.250003	0.59212	2.27E-4	0.0	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63913	-0.07;-0.07	5.55	2.71	0.32032	Thyroglobulin type-1 (5);	1.399700	0.04352	N	0.355956	T	0.53818	0.1820	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	P	0.47376	0.545	T	0.47459	-0.9116	10	0.62326	D	0.03	.	7.3691	0.26792	0.0:0.7061:0.1384:0.1555	.	1136	P01266	THYG_HUMAN	W	1136	ENSP00000367100:R1136W;ENSP00000220616:R1136W	ENSP00000220616:R1136W	R	+	1	2	TG	133981739	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.807000	0.27140	0.271000	0.22005	0.561000	0.74099	CGG		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	broad.mit.edu	37	8	133945914	133945914	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:133945914C>T	ENST00000220616.4	+	24	4965	c.4925C>T	c.(4924-4926)tCt>tTt	p.S1642F	TG_ENST00000377869.1_Missense_Mutation_p.S1585F|TG_ENST00000542445.1_Missense_Mutation_p.S76F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1642					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S1642F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCATGACTTCTGACCAGGTG	0.582																																					p.S1642F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4925T	8						.						248.0	185.0	206.0					8																	133945914		2203	4300	6503	134015096	SO:0001583	missense	7038	exon24			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4925C>T	8.37:g.133945914C>T	ENSP00000220616:p.Ser1642Phe	Somatic		Capture	Illumina HiSeq	Phase_I	134015096	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	c	8.678	0.904381	0.17760	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445	T;T;T	0.69561	-0.41;-0.41;-0.41	5.3	4.43	0.53597	.	0.567239	0.17400	N	0.175573	T	0.64713	0.2623	M	0.75447	2.3	0.25986	N	0.982312	B;B	0.27498	0.18;0.078	B;B	0.23018	0.043;0.039	T	0.62651	-0.6809	10	0.87932	D	0	.	10.0339	0.42118	0.0:0.909:0.0:0.091	.	76;1642	F5GWW5;P01266	.;THYG_HUMAN	F	1585;448;1642;76	ENSP00000367100:S1585F;ENSP00000220616:S1642F;ENSP00000441693:S76F	ENSP00000220616:S1642F	S	+	2	0	TG	134015096	0.120000	0.22244	0.311000	0.25182	0.138000	0.21146	1.383000	0.34385	1.472000	0.48140	0.637000	0.83480	TCT		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	broad.mit.edu	37	8	134030027	134030027	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:134030027C>A	ENST00000220616.4	+	38	6607	c.6567C>A	c.(6565-6567)atC>atA	p.I2189I	TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Silent_p.I2132I|TG_ENST00000519543.1_Silent_p.I322I|TG_ENST00000542445.1_Silent_p.I559I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2189					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.I2189I(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAACAGGAATCTCTCTGCTCA	0.547																																					p.I2189I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6567A	8						.						84.0	77.0	79.0					8																	134030027		2203	4300	6503	134099209	SO:0001819	synonymous_variant	7038	exon38			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6567C>A	8.37:g.134030027C>A		Somatic		Capture	Illumina HiSeq	Phase_I	134099209	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989620	0.35131	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.53	2.73	0.32206	.	.	.	.	.	T	0.25232	0.0613	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	4.0455	0.09771	0.1671:0.5866:0.161:0.0853	.	.	.	.	I	645	.	.	L	+	1	0	TG	134099209	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	0.260000	0.18424	0.425000	0.26087	-0.182000	0.12963	CTC		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
WISP1	8840	broad.mit.edu	37	8	134232990	134232990	+	Silent	SNP	C	C	T	rs150221105	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:134232990C>T	ENST00000250160.6	+	3	622	c.516C>T	c.(514-516)cgC>cgT	p.R172R	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	172	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.R172R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACCCGCGGCGCGTGAGCATAC	0.672																																					p.R172R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C516T	8						.	C	,,,	7,4397	11.4+/-27.6	0,7,2195	38.0	38.0	38.0		,,516,	-4.2	0.0	8	dbSNP_134	38	0,8598		0,0,4299	no	intron,intron,coding-synonymous,intron	WISP1	NM_001204869.1,NM_001204870.1,NM_003882.3,NM_080838.2	,,,	0,7,6494	TT,TC,CC		0.0,0.1589,0.0538	,,,	,,172/368,	134232990	7,12995	2202	4299	6501	134302172	SO:0001819	synonymous_variant	8840	exon3			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.516C>T	8.37:g.134232990C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134302172	NM_003882	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	CCDS6371.1																																																																																				0.672	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	
FAM135B	51059	broad.mit.edu	37	8	139180250	139180250	+	Silent	SNP	C	C	A	rs370197038		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:139180250C>A	ENST00000395297.1	-	12	1316	c.1146G>T	c.(1144-1146)tcG>tcT	p.S382S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	382								p.S382S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGGTACTCCGAGTTCCGGA	0.587										HNSCC(54;0.14)																											p.S382S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1146T	8						.						108.0	116.0	113.0					8																	139180250		2113	4230	6343	139249432	SO:0001819	synonymous_variant	51059	exon12			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1146G>T	8.37:g.139180250C>A		Somatic		Capture	Illumina HiSeq	Phase_I	139249432	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.587	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:139380195G>A	ENST00000395297.1	-	2	202	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368										HNSCC(54;0.14)																											p.S11L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C32T	8						.						153.0	146.0	148.0					8																	139380195		1863	4102	5965	139449377	SO:0001583	missense	51059	exon2			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.32C>T	8.37:g.139380195G>A	ENSP00000378710:p.Ser11Leu	Somatic		Capture	Illumina HiSeq	Phase_I	139449377	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	31	5.091740	0.94149	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15718	2.4	5.54	5.54	0.83059	.	0.000000	0.53938	U	0.000057	T	0.36608	0.0973	L	0.51853	1.615	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.00878	-1.1530	10	0.23302	T	0.38	-8.1994	18.3941	0.90493	0.0:0.0:1.0:0.0	.	11	Q49AJ0	F135B_HUMAN	L	11	ENSP00000378710:S11L	ENSP00000160713:S11L	S	-	2	0	FAM135B	139449377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	TCG		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
COL22A1	169044	broad.mit.edu	37	8	139601654	139601654	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:139601654C>A	ENST00000303045.6	-	65	5169	c.4723G>T	c.(4723-4725)Gat>Tat	p.D1575Y	COL22A1_ENST00000435777.1_Missense_Mutation_p.D1555Y|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1575	Collagen-like 16.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D1575Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGAAGTCCATCTTTAGCATAG	0.602										HNSCC(7;0.00092)																											p.D1575Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4723T	8						.						48.0	42.0	44.0					8																	139601654		2203	4300	6503	139670836	SO:0001583	missense	169044	exon65			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4723G>T	8.37:g.139601654C>A	ENSP00000303153:p.Asp1575Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	139670836	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747810	0.69533	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000086	D	0.97498	0.9181	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.987;1.0	D	0.97871	1.0286	10	0.66056	D	0.02	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	1555;1575	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Y	1575;1555;1268	ENSP00000303153:D1575Y;ENSP00000387655:D1555Y	ENSP00000303153:D1575Y	D	-	1	0	COL22A1	139670836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.247000	0.78257	2.752000	0.94435	0.655000	0.94253	GAT		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	broad.mit.edu	37	8	139774670	139774670	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:139774670C>T	ENST00000303045.6	-	17	2289	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	COL22A1_ENST00000435777.1_Missense_Mutation_p.D615N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	615	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D615N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTCCTGTGTCCCCAGGCTTC	0.567										HNSCC(7;0.00092)																											p.D615N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1843A	8						.						88.0	70.0	77.0					8																	139774670		2203	4300	6503	139843852	SO:0001583	missense	169044	exon17			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1843G>A	8.37:g.139774670C>T	ENSP00000303153:p.Asp615Asn	Somatic		Capture	Illumina HiSeq	Phase_I	139843852	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	3.717	-0.058430	0.07317	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.90563	-2.69;-2.69	5.23	3.37	0.38596	.	1.236560	0.06176	U	0.678588	D	0.87958	0.6309	L	0.42529	1.33	0.09310	N	0.999994	B	0.19073	0.033	B	0.28139	0.086	T	0.71034	-0.4709	10	0.16420	T	0.52	.	11.7431	0.51804	0.0:0.6572:0.3428:0.0	.	615	Q8NFW1	COMA1_HUMAN	N	615	ENSP00000303153:D615N;ENSP00000387655:D615N	ENSP00000303153:D615N	D	-	1	0	COL22A1	139843852	0.528000	0.26314	0.510000	0.27712	0.121000	0.20230	0.733000	0.26087	0.724000	0.32296	-0.182000	0.12963	GAC		0.567	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	broad.mit.edu	37	8	139833646	139833646	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:139833646G>T	ENST00000303045.6	-	7	1424	c.978C>A	c.(976-978)atC>atA	p.I326I	COL22A1_ENST00000435777.1_Silent_p.I326I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	326	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I326I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATCCAGCCGGATGGAGACCT	0.552										HNSCC(7;0.00092)																											p.I326I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978A	8						.						119.0	121.0	121.0					8																	139833646		2203	4300	6503	139902828	SO:0001819	synonymous_variant	169044	exon7			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.978C>A	8.37:g.139833646G>T		Somatic		Capture	Illumina HiSeq	Phase_I	139902828	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
SGCZ	137868	broad.mit.edu	37	8	14181616	14181616	+	Missense_Mutation	SNP	C	C	T	rs138916610	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:14181616C>T	ENST00000382080.1	-	3	1047	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	98					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R111Q(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACATACCTTTCGAGAATGAAT	0.378																																					p.R111Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	8						.	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	89.0	83.0	85.0		332	5.1	1.0	8	dbSNP_134	85	1,8599		0,1,4299	yes	missense	SGCZ	NM_139167.2	43	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	111/313	14181616	4,13002	2203	4300	6503	14225987	SO:0001583	missense	137868	exon3			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.332G>A	8.37:g.14181616C>T	ENSP00000371512:p.Arg111Gln	Somatic		Capture	Illumina HiSeq	Phase_I	14225987	NM_139167	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907113	0.92107	6.81E-4	1.16E-4	ENSG00000185053	ENST00000382080	D	0.95656	-3.77	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.95478	0.8531	M	0.77103	2.36	0.80722	D	1	D	0.57899	0.981	P	0.45681	0.49	D	0.94755	0.7931	10	0.33940	T	0.23	.	17.5325	0.87818	0.0:1.0:0.0:0.0	.	111	Q96LD1-2	.	Q	111	ENSP00000371512:R111Q	ENSP00000371512:R111Q	R	-	2	0	SGCZ	14225987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.211000	0.77933	2.562000	0.86427	0.563000	0.77884	CGA		0.378	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
TRAPPC9	83696	broad.mit.edu	37	8	141310678	141310678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:141310678C>T	ENST00000438773.2	-	11	1791	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R544Q|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.R651Q	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	553					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.R651Q(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTGTGTGGCCGGAGGCTAGC	0.438																																					p.R553Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1658A	8						.						191.0	177.0	181.0					8																	141310678		2203	4300	6503	141379860	SO:0001583	missense	83696	exon11			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1658G>A	8.37:g.141310678C>T	ENSP00000405060:p.Arg553Gln	Somatic		Capture	Illumina HiSeq	Phase_I	141379860	NM_001160372	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919337	0.52546	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.93	4.13	0.48395	.	0.165679	0.53938	N	0.000045	T	0.44705	0.1306	L	0.46741	1.465	0.43787	D	0.996327	B;B;B	0.30406	0.023;0.022;0.278	B;B;B	0.19666	0.026;0.021;0.026	T	0.34378	-0.9831	9	0.10902	T	0.67	.	12.9808	0.58562	0.0:0.8676:0.0:0.1324	.	553;544;651	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	Q	651;544;553	.	ENSP00000373978:R544Q	R	-	2	0	TRAPPC9	141379860	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.665000	0.46791	1.515000	0.48885	-0.140000	0.14226	CGG		0.438	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
GML	2765	broad.mit.edu	37	8	143922641	143922641	+	Splice_Site	SNP	C	C	T	rs150041552	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:143922641C>T	ENST00000220940.1	+	3	271	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	61	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.R61C(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AATCTCCATTCGTAAGTACCT	0.463													c|||	3	0.000599042	0.0	0.0	5008	,	,		24737	0.0		0.0	False		,,,				2504	0.0031				p.R61C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181T	8						.	C	CYS/ARG	1,4405		0,1,2202	201.0	164.0	176.0		181	3.4	0.8	8	dbSNP_134	176	0,8600		0,0,4300	yes	missense-near-splice	GML	NM_002066.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	61/159	143922641	1,13005	2203	4300	6503	143919643	SO:0001630	splice_region_variant	2765	exon3			D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.181+1C>T	8.37:g.143922641C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143919643	NM_002066	A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	CCDS6391.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	16.39|16.39	3.111033|3.111033	0.56398|0.56398	2.27E-4|2.27E-4	0.0|0.0	ENSG00000104499|ENSG00000104499	ENST00000522728|ENST00000220940	.|T	.|0.23147	.|1.92	3.43|3.43	3.43|3.43	0.39272|0.39272	.|Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	.|0.000000	.|0.42053	.|D	.|0.000765	.|T	.|0.43809	.|0.1264	L|L	0.59436|0.59436	1.845|1.845	0.47094|0.47094	D|D	0.999313|0.999313	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.39099	.|-0.9630	.|10	0.36615|0.87932	T|D	0.2|0	-18.3275|-18.3275	10.6371|10.6371	0.45571|0.45571	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|61	.|Q99445	.|GML_HUMAN	X|C	61|61	.|ENSP00000220940:R61C	ENSP00000430799:Q61X|ENSP00000220940:R61C	Q|R	+|+	1|1	0|0	GML|GML	143919643|143919643	0.215000|0.215000	0.23574|0.23574	0.828000|0.828000	0.32881|0.32881	0.012000|0.012000	0.07955|0.07955	0.682000|0.682000	0.25335|0.25335	2.196000|2.196000	0.70406|0.70406	0.650000|0.650000	0.86243|0.86243	CAG|CGC		0.463	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066	Missense_Mutation
SGCZ	137868	broad.mit.edu	37	8	14412352	14412352	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:14412352A>C	ENST00000382080.1	-	2	838	c.123T>G	c.(121-123)atT>atG	p.I41M	SGCZ_ENST00000421524.2_Missense_Mutation_p.I28M	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	28					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.I41M(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATCCATAAATTCCCACTG	0.383																																					p.I41M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T123G	8						.						234.0	224.0	227.0					8																	14412352		2203	4300	6503	14456723	SO:0001583	missense	137868	exon2			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.123T>G	8.37:g.14412352A>C	ENSP00000371512:p.Ile41Met	Somatic		Capture	Illumina HiSeq	Phase_I	14456723	NM_139167	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866071	0.51588	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.95518	-3.73;-3.73	5.39	4.22	0.49857	.	0.051250	0.85682	D	0.000000	D	0.95834	0.8644	M	0.76170	2.325	0.47374	D	0.999403	P;P	0.50943	0.94;0.926	P;B	0.51742	0.678;0.41	D	0.94917	0.8070	10	0.59425	D	0.04	.	10.9874	0.47530	0.8527:0.0:0.0:0.1473	.	28;41	Q08AT0;Q96LD1-2	.;.	M	41;28	ENSP00000371512:I41M;ENSP00000405224:I28M	ENSP00000371512:I41M	I	-	3	3	SGCZ	14456723	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.627000	0.37050	0.971000	0.38288	0.528000	0.53228	ATT		0.383	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
CYP11B2	1585	broad.mit.edu	37	8	143993400	143993400	+	Missense_Mutation	SNP	T	T	G	rs146765393	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:143993400T>G	ENST00000323110.2	-	9	1510	c.1508A>C	c.(1507-1509)aAc>aCc	p.N503T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	503					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.N503T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCAAGACTAGTTAATCGCTCT	0.562									Familial Hyperaldosteronism type I																												p.N503T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1508C	8						.	T	THR/ASN	0,4406		0,0,2203	137.0	122.0	127.0		1508	-2.1	0.0	8	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CYP11B2	NM_000498.3	65	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	benign	503/504	143993400	2,13004	2203	4300	6503	143990402	SO:0001583	missense	1585	exon9	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1508A>C	8.37:g.143993400T>G	ENSP00000325822:p.Asn503Thr	Somatic		Capture	Illumina HiSeq	Phase_I	143990402	NM_000498	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	T	7.776	0.708483	0.15239	0.0	2.33E-4	ENSG00000179142	ENST00000323110	T	0.74947	-0.89	2.86	-2.14	0.07123	.	0.766837	0.11351	U	0.572987	T	0.62036	0.2395	L	0.43152	1.355	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.52245	-0.8601	10	0.62326	D	0.03	.	6.9367	0.24470	0.0:0.5583:0.0:0.4417	.	503	P19099	C11B2_HUMAN	T	503	ENSP00000325822:N503T	ENSP00000325822:N503T	N	-	2	0	CYP11B2	143990402	0.033000	0.19621	0.000000	0.03702	0.001000	0.01503	-0.031000	0.12287	-0.577000	0.05967	-0.467000	0.05162	AAC		0.562	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
ZNF623	9831	broad.mit.edu	37	8	144732045	144732045	+	Start_Codon_SNP	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:144732045G>T	ENST00000501748.2	+	1	92	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF623_ENST00000526926.1_Intron|ZNF623_ENST00000458270.2_Intron	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M1I(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGAAAGATGATTTTGTTGT	0.438																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	8						.						104.0	85.0	91.0					8																	144732045		2203	4300	6503	144803188	SO:0001582	initiator_codon_variant	9831	exon1			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.3G>T	8.37:g.144732045G>T	ENSP00000445979:p.Met1Ile	Somatic		Capture	Illumina HiSeq	Phase_I	144803188	NM_014789	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441817	0.25900	.	.	ENSG00000183309	ENST00000532796;ENST00000501748	T	0.05447	3.44	3.22	0.0722	0.14386	.	.	.	.	.	T	0.02267	0.0070	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46428	-0.9192	8	0.02654	T	1	.	5.0411	0.14460	0.2249:0.2384:0.5367:0.0	.	1	O75123	ZN623_HUMAN	I	1	ENSP00000445979:M1I	ENSP00000445979:M1I	M	+	3	0	ZNF623	144803188	0.003000	0.15002	0.000000	0.03702	0.208000	0.24298	-0.066000	0.11598	-0.001000	0.14495	0.655000	0.94253	ATG		0.438	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	Missense_Mutation
ZNF623	9831	broad.mit.edu	37	8	144733217	144733217	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:144733217G>A	ENST00000501748.2	+	1	1264	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	ZNF623_ENST00000526926.1_Missense_Mutation_p.R352Q|ZNF623_ENST00000458270.2_Missense_Mutation_p.R352Q	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R392Q(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TACCTTATTCGACACCAGAAA	0.443																																					p.R392Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	8						.						68.0	64.0	65.0					8																	144733217		2203	4300	6503	144804360	SO:0001583	missense	9831	exon1			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1175G>A	8.37:g.144733217G>A	ENSP00000445979:p.Arg392Gln	Somatic		Capture	Illumina HiSeq	Phase_I	144804360	NM_014789	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904888	0.33628	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.26223	1.75;1.75;1.75	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18759	0.0450	L	0.28608	0.87	0.09310	N	1	D	0.69078	0.997	P	0.47206	0.541	T	0.02751	-1.1115	9	0.02654	T	1	-7.5058	9.9921	0.41877	0.0:0.2068:0.7932:0.0	.	392	O75123	ZN623_HUMAN	Q	352;352;352;392;392	ENSP00000435232:R352Q;ENSP00000411139:R352Q;ENSP00000445979:R392Q	ENSP00000330358:R352Q	R	+	2	0	ZNF623	144804360	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	-0.944000	0.03913	2.241000	0.73720	0.491000	0.48974	CGA		0.443	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
PLEC	5339	broad.mit.edu	37	8	145000988	145000988	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:145000988G>T	ENST00000322810.4	-	30	4588	c.4419C>A	c.(4417-4419)ttC>ttA	p.F1473L	PLEC_ENST00000436759.2_Missense_Mutation_p.F1363L|PLEC_ENST00000357649.2_Missense_Mutation_p.F1340L|PLEC_ENST00000354958.2_Missense_Mutation_p.F1314L|PLEC_ENST00000527096.1_Missense_Mutation_p.F1359L|PLEC_ENST00000354589.3_Missense_Mutation_p.F1336L|PLEC_ENST00000356346.3_Missense_Mutation_p.F1322L|PLEC_ENST00000345136.3_Missense_Mutation_p.F1336L|PLEC_ENST00000398774.2_Missense_Mutation_p.F1304L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1473	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.F1363L(1)|p.F1473L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCGCTGATGAACTTGATGT	0.607																																					p.F1340L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4020A	8						.						111.0	126.0	121.0					8																	145000988		2175	4268	6443	145072976	SO:0001583	missense	5339	exon30			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4419C>A	8.37:g.145000988G>T	ENSP00000323856:p.Phe1473Leu	Somatic		Capture	Illumina HiSeq	Phase_I	145072976	NM_201383	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.083124|3.083124	0.55861|0.55861	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	D;D;D;T;T;D;D;D;D|.	0.94931|.	-3.56;-3.56;-3.56;1.88;1.88;-3.56;-3.56;-3.56;-3.56|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|.	0.71409|.	0.3336|.	L|L	0.58669|0.58669	1.825|1.825	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D;D;D;D;D;D|.	0.71674|.	0.998;0.998;0.998;0.997;0.998;0.998;0.998;0.998|.	D;D;D;D;D;D;D;D|.	0.80764|.	0.994;0.994;0.994;0.985;0.994;0.994;0.994;0.994|.	T|.	0.70321|.	-0.4904|.	10|.	0.51188|.	T|.	0.08|.	.|.	17.5651|17.5651	0.87917|0.87917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1363;1322;1314;1473;1304;1336;1340;1336|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	L|X	1336;1340;1336;1304;1473;1314;1322;1363;1359|33	ENSP00000344848:F1336L;ENSP00000350277:F1340L;ENSP00000346602:F1336L;ENSP00000381756:F1304L;ENSP00000323856:F1473L;ENSP00000347044:F1314L;ENSP00000348702:F1322L;ENSP00000388180:F1363L;ENSP00000434583:F1359L|.	ENSP00000323856:F1473L|.	F|S	-|-	3|2	2|0	PLEC|PLEC	145072976|145072976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.371000|3.371000	0.52379|0.52379	2.226000|2.226000	0.72624|0.72624	0.448000|0.448000	0.29417|0.29417	TTC|TCA		0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
ZNF251	90987	broad.mit.edu	37	8	145947715	145947715	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:145947715G>A	ENST00000292562.7	-	5	1605	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R401W(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTGGAACTCCGACGAAAGGCT	0.493																																					p.R444W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1330T	8						.						70.0	80.0	76.0					8																	145947715		2184	4288	6472	145918524	SO:0001583	missense	90987	exon5			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1330C>T	8.37:g.145947715G>A	ENSP00000292562:p.Arg444Trp	Somatic		Capture	Illumina HiSeq	Phase_I	145918524	NM_138367	Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793211	0.31685	.	.	ENSG00000198169	ENST00000292562	T	0.36520	1.25	2.15	0.11	0.14611	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49541	0.1563	L	0.58510	1.815	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.37572	-0.9700	9	0.37606	T	0.19	-10.6708	9.067	0.36469	0.0:0.0:0.6076:0.3924	.	444	Q9BRH9	ZN251_HUMAN	W	444	ENSP00000292562:R444W	ENSP00000292562:R444W	R	-	1	2	ZNF251	145918524	0.000000	0.05858	0.436000	0.26797	0.962000	0.63368	-0.876000	0.04201	0.017000	0.15025	-0.311000	0.09066	CGG		0.493	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
ZNF7	7553	broad.mit.edu	37	8	146067385	146067385	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:146067385G>T	ENST00000528372.1	+	5	1133	c.893G>T	c.(892-894)aGa>aTa	p.R298I	ZNF7_ENST00000325241.6_Missense_Mutation_p.R298I|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R309I|ZNF7_ENST00000544249.1_Missense_Mutation_p.R202I			P17097	ZNF7_HUMAN	zinc finger protein 7	298					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R298I(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CAGCATCAAAGAATCCACACT	0.473																																					p.R298I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893T	8						.						65.0	71.0	69.0					8																	146067385		2203	4300	6503	146038189	SO:0001583	missense	7553	exon5			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.893G>T	8.37:g.146067385G>T	ENSP00000432724:p.Arg298Ile	Somatic		Capture	Illumina HiSeq	Phase_I	146038189	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622870	0.66901	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.02446	4.29;4.29;4.29;4.29	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000131	T	0.12178	0.0296	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00121	-1.2029	9	.	.	.	-28.5711	10.8322	0.46667	0.0875:0.0:0.9125:0.0	.	309;298	B4DT08;P17097	.;ZNF7_HUMAN	I	298;309;202;298	ENSP00000320627:R298I;ENSP00000393260:R309I;ENSP00000439424:R202I;ENSP00000432724:R298I	.	R	+	2	0	ZNF7	146038189	0.000000	0.05858	0.942000	0.38095	0.676000	0.39594	0.070000	0.14573	2.629000	0.89072	0.555000	0.69702	AGA		0.473	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
ZNF596	169270	broad.mit.edu	37	8	193748	193748	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:193748C>T	ENST00000398612.1	+	4	549	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	ZNF596_ENST00000320552.2_Intron|ZNF596_ENST00000308811.4_Missense_Mutation_p.L56F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L56F(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATCAGTTGTGCTTTCCCAATT	0.413																																					p.L56F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	8						.						139.0	131.0	134.0					8																	193748		2203	4300	6503	183748	SO:0001583	missense	169270	exon4			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.166C>T	8.37:g.193748C>T	ENSP00000381613:p.Leu56Phe	Somatic		Capture	Illumina HiSeq	Phase_I	183748	NM_001042416	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	0.867	-0.733467	0.03111	.	.	ENSG00000172748	ENST00000521145;ENST00000308811;ENST00000522866;ENST00000398612;ENST00000518414	T;T;T;T	0.00864	5.6;5.6;5.6;5.6	2.63	-1.48	0.08745	Krueppel-associated box (3);	.	.	.	.	T	0.00724	0.0024	N	0.21373	0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44997	-0.9291	9	0.25751	T	0.34	.	4.5401	0.12052	0.3553:0.4808:0.0:0.164	.	56	Q8TC21	ZN596_HUMAN	F	56	ENSP00000429671:L56F;ENSP00000310033:L56F;ENSP00000381613:L56F;ENSP00000430552:L56F	ENSP00000310033:L56F	L	+	1	0	ZNF596	183748	0.018000	0.18449	0.001000	0.08648	0.037000	0.13140	0.284000	0.18864	-0.349000	0.08274	-0.216000	0.12614	CTT		0.413	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539	
ZNF596	169270	broad.mit.edu	37	8	196126	196126	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:196126G>T	ENST00000398612.1	+	6	1662	c.1279G>T	c.(1279-1281)Gcc>Tcc	p.A427S	ZNF596_ENST00000320552.2_Missense_Mutation_p.A357S|ZNF596_ENST00000308811.4_Missense_Mutation_p.A427S	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	427					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.A427S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATGCGGAAAAGCCTTCAATCA	0.418																																					p.A427S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1279T	8						.						132.0	114.0	120.0					8																	196126		2203	4300	6503	186126	SO:0001583	missense	169270	exon6			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1279G>T	8.37:g.196126G>T	ENSP00000381613:p.Ala427Ser	Somatic		Capture	Illumina HiSeq	Phase_I	186126	NM_001042416	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	2.890	-0.229904	0.06022	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.13420	2.59;2.59;2.59	2.72	-0.0972	0.13634	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.05230	-0.09	0.09310	N	1	B	0.30889	0.299	B	0.32393	0.145	T	0.35251	-0.9796	9	0.51188	T	0.08	.	2.8053	0.05426	0.3587:0.0:0.4367:0.2046	.	427	Q8TC21	ZN596_HUMAN	S	427;357;427	ENSP00000310033:A427S;ENSP00000318719:A357S;ENSP00000381613:A427S	ENSP00000310033:A427S	A	+	1	0	ZNF596	186126	0.000000	0.05858	0.253000	0.24343	0.027000	0.11550	-0.687000	0.05156	-0.039000	0.13602	0.655000	0.94253	GCC		0.418	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539	
ERICH1	157697	broad.mit.edu	37	8	623851	623851	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:623851C>A	ENST00000262109.7	-	4	578	c.501G>T	c.(499-501)aaG>aaT	p.K167N	ERICH1_ENST00000522706.1_Missense_Mutation_p.K73N|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	167								p.K167N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTTGCTGTTTCTTTTTCAGTT	0.448																																					p.K167N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G501T	8						.						63.0	70.0	67.0					8																	623851		2203	4300	6503	613851	SO:0001583	missense	157697	exon4				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.501G>T	8.37:g.623851C>A	ENSP00000262109:p.Lys167Asn	Somatic		Capture	Illumina HiSeq	Phase_I	613851	NM_207332	A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071783	0.76301	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.48522	0.81;0.81	5.98	5.98	0.97165	.	0.272984	0.35838	N	0.002941	T	0.63129	0.2485	L	0.61218	1.895	0.37058	D	0.897947	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.964;0.964;0.943	T	0.69194	-0.5209	10	0.66056	D	0.02	-16.6251	11.2284	0.48897	0.0:0.9173:0.0:0.0827	.	167;167;73	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	N	167;73;167	ENSP00000428635:K73N;ENSP00000262109:K167N	ENSP00000262109:K167N	K	-	3	2	ERICH1	613851	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.811000	0.38942	2.833000	0.97629	0.655000	0.94253	AAG		0.448	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332	
DLGAP2	9228	broad.mit.edu	37	8	1581155	1581155	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:1581155G>A	ENST00000421627.2	+	5	1647	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	584					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.E527K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGATGACGAATGTATTCC	0.547																																					p.E505K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1513A	8						.						113.0	116.0	115.0					8																	1581155		2137	4245	6382	1568562	SO:0001583	missense	9228	exon5			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1513G>A	8.37:g.1581155G>A	ENSP00000400258:p.Glu505Lys	Somatic		Capture	Illumina HiSeq	Phase_I	1568562	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078947	0.94050	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.22945	1.93	5.06	5.06	0.68205	.	0.047705	0.85682	D	0.000000	T	0.35219	0.0924	M	0.71581	2.175	0.49798	D	0.999822	D;P	0.54397	0.966;0.943	B;B	0.43018	0.405;0.229	T	0.42732	-0.9434	10	0.87932	D	0	-11.4958	18.7837	0.91946	0.0:0.0:1.0:0.0	.	584;584	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	K	550;505	ENSP00000400258:E505K	ENSP00000348366:E550K	E	+	1	0	DLGAP2	1568562	1.000000	0.71417	0.791000	0.31998	0.818000	0.46254	9.263000	0.95617	2.475000	0.83589	0.555000	0.69702	GAA		0.547	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
ARHGEF10	9639	broad.mit.edu	37	8	1893696	1893696	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:1893696C>T	ENST00000398564.1	+	27	3347	c.3347C>T	c.(3346-3348)gCc>gTc	p.A1116V	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1091V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1053V|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A1115V|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1087V|ARHGEF10_ENST00000521927.1_3'UTR			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1116					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A868V(1)|p.A1116V(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCCCACATGGCCGTGTCCGGC	0.592																																					p.A1091V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3272T	8						.						101.0	73.0	82.0					8																	1893696		2203	4300	6503	1881103	SO:0001583	missense	9639	exon27			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3347C>T	8.37:g.1893696C>T	ENSP00000381571:p.Ala1116Val	Somatic		Capture	Illumina HiSeq	Phase_I	1881103	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	c	1.757	-0.487713	0.04352	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.27;-0.27	5.01	4.1	0.47936	.	0.251153	0.39407	N	0.001361	T	0.46814	0.1412	N	0.16903	0.455	0.80722	D	1	B;B	0.22346	0.068;0.007	B;B	0.22386	0.039;0.021	T	0.30621	-0.9972	10	0.09084	T	0.74	-22.8017	12.5572	0.56261	0.0:0.9149:0.0:0.0851	.	1053;1091	O15013-7;O15013-5	.;.	V	1091;1053;1115;1116;1087;735	ENSP00000340297:A1091V;ENSP00000427909:A1053V;ENSP00000431012:A1115V;ENSP00000381571:A1116V;ENSP00000262112:A1087V;ENSP00000427768:A735V	ENSP00000262112:A1087V	A	+	2	0	ARHGEF10	1881103	0.996000	0.38824	0.786000	0.31890	0.315000	0.28087	3.141000	0.50593	1.020000	0.39573	0.431000	0.28591	GCC		0.592	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
MYOM2	9172	broad.mit.edu	37	8	2063893	2063893	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:2063893G>T	ENST00000262113.4	+	26	3463	c.3322G>T	c.(3322-3324)Gat>Tat	p.D1108Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.D533Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1108					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D1108Y(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTTATTGGAGATGGTATGCT	0.348																																					p.D1108Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3322T	8						.						124.0	117.0	120.0					8																	2063893		2203	4300	6503	2051300	SO:0001583	missense	9172	exon26				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3322G>T	8.37:g.2063893G>T	ENSP00000262113:p.Asp1108Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	2051300	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150887	0.57151	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.60672	0.17;0.38	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77429	-0.2591	10	0.87932	D	0	.	19.0362	0.92980	0.0:0.0:1.0:0.0	.	1108	P54296	MYOM2_HUMAN	Y	1108;533	ENSP00000262113:D1108Y;ENSP00000428396:D533Y	ENSP00000262113:D1108Y	D	+	1	0	MYOM2	2051300	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	9.512000	0.98008	2.495000	0.84180	0.655000	0.94253	GAT		0.348	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	broad.mit.edu	37	8	2836216	2836216	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:2836216C>A	ENST00000520002.1	-	56	9042	c.8487G>T	c.(8485-8487)aaG>aaT	p.K2829N	CSMD1_ENST00000537824.1_Missense_Mutation_p.K2828N|CSMD1_ENST00000542608.1_Missense_Mutation_p.K2770N|CSMD1_ENST00000602557.1_Missense_Mutation_p.K2829N|CSMD1_ENST00000400186.3_Missense_Mutation_p.K2771N|CSMD1_ENST00000602723.1_Missense_Mutation_p.K2771N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2829	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.K2557N(1)|p.K2828N(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAATCCCTTCTTGCAATGGT	0.473																																					p.E2829X												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8485T	8						.						79.0	72.0	74.0					8																	2836216		1881	4120	6001	2823623	SO:0001583	missense	64478	exon55					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8487G>T	8.37:g.2836216C>A	ENSP00000430733:p.Lys2829Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2823623	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.004|1.004	-0.689959|-0.689959	0.03328|0.03328	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18	5.08|5.08	2.21|2.21	0.28008|0.28008	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.43523	.|0.1251	N|N	0.01235|0.01235	-0.94|-0.94	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.89917	.|0.997;0.002;1.0	.|D;B;D	.|0.91635	.|0.994;0.015;0.999	.|T	.|0.49466	.|-0.8937	.|10	.|0.02654	.|T	.|1	.|.	8.6677|8.6677	0.34132|0.34132	0.0:0.6972:0.0:0.3028|0.0:0.6972:0.0:0.3028	.|.	.|2829;2829;2770	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	X|N	2246|2771;2829;2690;2828;2770	.|ENSP00000383047:K2771N;ENSP00000430733:K2829N;ENSP00000441462:K2828N;ENSP00000446243:K2770N	.|ENSP00000320445:K2690N	E|K	-|-	1|3	0|2	CSMD1|CSMD1	2823623|2823623	0.226000|0.226000	0.23696|0.23696	0.995000|0.995000	0.50966|0.50966	0.811000|0.811000	0.45836|0.45836	-0.090000|-0.090000	0.11163|0.11163	0.492000|0.492000	0.27815|0.27815	0.563000|0.563000	0.77884|0.77884	GAA|AAG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2975953	2975953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:2975953C>A	ENST00000520002.1	-	43	6956	c.6401G>T	c.(6400-6402)aGa>aTa	p.R2134I	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2133I|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2133I|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2134I|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2134I|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2134I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2134	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2133I(1)|p.R1862I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTCCAGTTTCTGTTGATCCC	0.418																																					p.Q2133H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6399T	8						.						123.0	118.0	119.0					8																	2975953		1996	4170	6166	2963360	SO:0001583	missense	64478	exon42					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6401G>T	8.37:g.2975953C>A	ENSP00000430733:p.Arg2134Ile	Somatic		Capture	Illumina HiSeq	Phase_I	2963360	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077802|4.077802	0.76528|0.76528	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.64618	.|-0.11;-0.11;-0.11;-0.11	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84101|0.84101	0.5398|0.5398	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.996;0.999	.|D;D;D	.|0.91635	.|0.993;0.995;0.999	D|D	0.87499|0.87499	0.2432|0.2432	5|10	.|0.52906	.|T	.|0.07	.|.	18.3323|18.3323	0.90274|0.90274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2134;2134;2133	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|I	1613|2134;2134;1995;2133;2133	.|ENSP00000383047:R2134I;ENSP00000430733:R2134I;ENSP00000441462:R2133I;ENSP00000446243:R2133I	.|ENSP00000320445:R1995I	Q|R	-|-	3|2	2|0	CSMD1|CSMD1	2963360|2963360	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.378000|0.378000	0.30076|0.30076	7.570000|7.570000	0.82390|0.82390	2.378000|2.378000	0.81104|0.81104	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3072098	3072098	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:3072098A>G	ENST00000520002.1	-	31	5346	c.4791T>C	c.(4789-4791)atT>atC	p.I1597I	CSMD1_ENST00000537824.1_Silent_p.I1596I|CSMD1_ENST00000542608.1_Silent_p.I1596I|CSMD1_ENST00000602557.1_Silent_p.I1597I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.I1597I|CSMD1_ENST00000602723.1_Silent_p.I1597I|CSMD1_ENST00000539096.1_Silent_p.I1596I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1597	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.I1325I(1)|p.I1596I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGGGTCAAGAATCTTATAGC	0.502																																					p.S1597P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T4789C	8						.						87.0	86.0	86.0					8																	3072098		2026	4186	6212	3059505	SO:0001819	synonymous_variant	64478	exon30					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4791T>C	8.37:g.3072098A>G		Somatic		Capture	Illumina HiSeq	Phase_I	3059505	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	1.217	-0.627912	0.03610	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.53	-1.18	0.09617	.	.	.	.	.	T	0.40595	0.1123	.	.	.	0.38121	D	0.937844	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	.	2.4478	0.04510	0.5855:0.1271:0.1647:0.1228	.	.	.	.	P	1077	.	.	S	-	1	0	CSMD1	3059505	0.000000	0.05858	0.027000	0.17364	0.209000	0.24338	-0.494000	0.06451	-0.439000	0.07222	0.482000	0.46254	TCT		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3072162	3072162	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:3072162C>A	ENST00000520002.1	-	31	5282	c.4727G>T	c.(4726-4728)aGa>aTa	p.R1576I	CSMD1_ENST00000537824.1_Missense_Mutation_p.R1575I|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1575I|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1576I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1576I|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1576I|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1575I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1576	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R1304I(1)|p.R1575I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTCCAACTCTTGTCCCATT	0.453																																					p.K1575N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4725T	8						.						89.0	85.0	86.0					8																	3072162		1981	4146	6127	3059569	SO:0001583	missense	64478	exon30					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4727G>T	8.37:g.3072162C>A	ENSP00000430733:p.Arg1576Ile	Somatic		Capture	Illumina HiSeq	Phase_I	3059569	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.002918|5.002918	0.93287|0.93287	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1;-0.1	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.76421|0.76421	0.3985|0.3985	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.989;0.998;0.999	.|D;D;D	.|0.97110	.|0.977;0.985;1.0	T|T	0.77354|0.77354	-0.2619|-0.2619	5|10	.|0.66056	.|D	.|0.02	.|.	19.4612|19.4612	0.94918|0.94918	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1576;1576;1576	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	N|I	1055|1576;1576;1438;1575;1575;1575	.|ENSP00000383047:R1576I;ENSP00000430733:R1576I;ENSP00000441462:R1575I;ENSP00000446243:R1575I;ENSP00000441675:R1575I	.|ENSP00000320445:R1438I	K|R	-|-	3|2	2|0	CSMD1|CSMD1	3059569|3059569	1.000000|1.000000	0.71417|0.71417	0.335000|0.335000	0.25508|0.25508	0.958000|0.958000	0.62258|0.62258	5.877000|5.877000	0.69675|0.69675	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3256976	3256976	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:3256976G>T	ENST00000520002.1	-	17	2900	c.2345C>A	c.(2344-2346)tCt>tAt	p.S782Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.S781Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.S781Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.S782Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S782Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.S782Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.S781Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	782	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.S781Y(2)|p.S510Y(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATGTAAAGAATCCTTATA	0.393																																					p.F781L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C2343A	8						.						95.0	93.0	94.0					8																	3256976		1867	4097	5964	3244383	SO:0001583	missense	64478	exon16					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2345C>A	8.37:g.3256976G>T	ENSP00000430733:p.Ser782Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	3244383	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.613021|4.613021	0.87258|0.87258	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.60672	.|0.17;0.17;0.17;0.17;0.17	5.35|5.35	5.35|5.35	0.76521|0.76521	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74275|0.74275	0.3695|0.3695	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.905;0.999	.|P;D	.|0.79108	.|0.863;0.992	T|T	0.71741|0.71741	-0.4501|-0.4501	5|10	.|0.38643	.|T	.|0.18	.|.	19.4376|19.4376	0.94804|0.94804	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|782;782	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	L|Y	261|782;782;644;781;781;781	.|ENSP00000383047:S782Y;ENSP00000430733:S782Y;ENSP00000441462:S781Y;ENSP00000446243:S781Y;ENSP00000441675:S781Y	.|ENSP00000320445:S644Y	F|S	-|-	3|2	2|0	CSMD1|CSMD1	3244383|3244383	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.884000|0.884000	0.51177|0.51177	9.576000|9.576000	0.98192|0.98192	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.393	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3265740	3265740	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:3265740A>G	ENST00000520002.1	-	15	2310	c.1755T>C	c.(1753-1755)tgT>tgC	p.C585C	CSMD1_ENST00000537824.1_Silent_p.C584C|CSMD1_ENST00000542608.1_Silent_p.C584C|CSMD1_ENST00000602557.1_Silent_p.C585C|CSMD1_ENST00000400186.3_Silent_p.C585C|CSMD1_ENST00000602723.1_Silent_p.C585C|CSMD1_ENST00000539096.1_Silent_p.C584C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	585	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.C584C(1)|p.C313C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTTGAAGAAACATGAAACTG	0.383																																					p.F585L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1753C	8						.						19.0	17.0	18.0					8																	3265740		1861	4107	5968	3253147	SO:0001819	synonymous_variant	64478	exon14					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1755T>C	8.37:g.3265740A>G		Somatic		Capture	Illumina HiSeq	Phase_I	3253147	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	A	9.175	1.022016	0.19433	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.23	-3.61	0.04556	.	.	.	.	.	T	0.55289	0.1911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52931	-0.8509	4	.	.	.	.	11.3855	0.49782	0.5825:0.0:0.4175:0.0	.	.	.	.	L	65	.	.	F	-	1	0	CSMD1	3253147	0.961000	0.32948	0.389000	0.26208	0.958000	0.62258	0.283000	0.18846	-0.994000	0.03463	-0.621000	0.04028	TTT		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3565953	3565953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:3565953C>T	ENST00000520002.1	-	7	1547	c.992G>A	c.(991-993)aGc>aAc	p.S331N	CSMD1_ENST00000537824.1_Missense_Mutation_p.S331N|CSMD1_ENST00000542608.1_Missense_Mutation_p.S331N|CSMD1_ENST00000602557.1_Missense_Mutation_p.S331N|CSMD1_ENST00000400186.3_Missense_Mutation_p.S331N|CSMD1_ENST00000602723.1_Missense_Mutation_p.S331N|CSMD1_ENST00000539096.1_Missense_Mutation_p.S331N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	331						integral component of membrane (GO:0016021)		p.S59N(1)|p.S331N(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTTTATGGCTTCCATCCTT	0.458																																					p.S331N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G992A	8						.						94.0	96.0	95.0					8																	3565953		1991	4169	6160	3553361	SO:0001583	missense	64478	exon7					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.992G>A	8.37:g.3565953C>T	ENSP00000430733:p.Ser331Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3553361	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	8.780	0.928092	0.18131	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.25749	1.79;1.87;1.91;1.78;2.22	5.72	3.61	0.41365	.	.	.	.	.	T	0.16727	0.0402	L	0.29908	0.895	0.30155	N	0.802722	B	0.02656	0.0	B	0.01281	0.0	T	0.12426	-1.0548	9	0.25106	T	0.35	.	6.865	0.24088	0.0:0.7059:0.0:0.2941	.	331	E5RIG2	.	N	331;331;193;331;331;331	ENSP00000383047:S331N;ENSP00000430733:S331N;ENSP00000441462:S331N;ENSP00000446243:S331N;ENSP00000441675:S331N	ENSP00000320445:S193N	S	-	2	0	CSMD1	3553361	1.000000	0.71417	0.972000	0.41901	0.147000	0.21601	2.063000	0.41423	1.410000	0.46936	0.650000	0.86243	AGC		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MCPH1	79648	broad.mit.edu	37	8	6302316	6302316	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:6302316G>T	ENST00000344683.5	+	8	1149	c.1073G>T	c.(1072-1074)aGa>aTa	p.R358I	MCPH1_ENST00000522905.1_Missense_Mutation_p.R310I|MCPH1_ENST00000519480.1_Missense_Mutation_p.R358I	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	358					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.R358I(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGAGAAAAAGAGTATCACAT	0.458																																					p.R358I	Colon(95;1448 1467 8277 34473 35819)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1073T	8						.						42.0	40.0	41.0					8																	6302316		1907	4138	6045	6289724	SO:0001583	missense	79648	exon8			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1073G>T	8.37:g.6302316G>T	ENSP00000342924:p.Arg358Ile	Somatic		Capture	Illumina HiSeq	Phase_I	6289724	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859014	0.51376	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.15952	2.38;2.38;2.38	5.5	1.63	0.23807	.	0.805314	0.11660	N	0.541964	T	0.31765	0.0807	M	0.74647	2.275	0.09310	N	0.999999	D;P;D	0.60160	0.977;0.858;0.987	P;P;P	0.62014	0.755;0.783;0.897	T	0.17501	-1.0367	10	0.87932	D	0	-16.1313	2.1122	0.03705	0.1697:0.1571:0.5106:0.1626	.	310;358;358	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	I	358;358;310	ENSP00000342924:R358I;ENSP00000430962:R358I;ENSP00000430768:R310I	ENSP00000342924:R358I	R	+	2	0	MCPH1	6289724	0.146000	0.22672	0.000000	0.03702	0.030000	0.12068	0.874000	0.28065	0.360000	0.24265	-0.175000	0.13238	AGA		0.458	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
AGPAT5	55326	broad.mit.edu	37	8	6566393	6566393	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:6566393T>G	ENST00000285518.6	+	1	516	c.204T>G	c.(202-204)aaT>aaG	p.N68K	CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000525186.1_RNA	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	68					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.N68K(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TCTTCGAGAATTACACCGGGG	0.697																																					p.N68K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T204G	8						.						21.0	24.0	23.0					8																	6566393		2203	4300	6503	6553801	SO:0001583	missense	55326	exon1			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.204T>G	8.37:g.6566393T>G	ENSP00000285518:p.Asn68Lys	Somatic		Capture	Illumina HiSeq	Phase_I	6553801	NM_018361	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	t	13.02	2.113176	0.37339	.	.	ENSG00000155189	ENST00000285518;ENST00000518327	D	0.92858	-3.12	3.86	2.96	0.34315	.	0.048757	0.85682	U	0.000000	D	0.90810	0.7114	M	0.73962	2.25	0.80722	D	1	D;B	0.53619	0.961;0.19	P;B	0.48189	0.57;0.073	D	0.86324	0.1694	10	0.28530	T	0.3	-8.1474	5.8421	0.18639	0.0:0.7358:0.0:0.2642	.	68;68	E5RH21;Q9NUQ2	.;PLCE_HUMAN	K	68;60	ENSP00000285518:N68K	ENSP00000285518:N68K	N	+	3	2	AGPAT5	6553801	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.812000	0.47994	0.554000	0.29061	-0.456000	0.05471	AAT		0.697	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361	
MSR1	4481	broad.mit.edu	37	8	16026258	16026258	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:16026258G>T	ENST00000262101.5	-	4	460	c.339C>A	c.(337-339)gtC>gtA	p.V113V	MSR1_ENST00000445506.2_Silent_p.V131V|MSR1_ENST00000381998.4_Silent_p.V113V|MSR1_ENST00000355282.2_Silent_p.V113V|MSR1_ENST00000350896.3_Silent_p.V113V|MSR1_ENST00000536385.1_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	113			V -> A (found in patients with prostate cancer; dbSNP:rs117359034). {ECO:0000269|PubMed:12244320}.		cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.V113V(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTTCCATAAAGACTTCTTGAA	0.388																																					p.V113V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339A	8						.						274.0	247.0	256.0					8																	16026258		2203	4300	6503	16070629	SO:0001819	synonymous_variant	4481	exon4			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.339C>A	8.37:g.16026258G>T		Somatic		Capture	Illumina HiSeq	Phase_I	16070629	NM_138716	D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	CCDS5995.1																																																																																				0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
MICU3	286097	broad.mit.edu	37	8	16955969	16955969	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:16955969A>G	ENST00000318063.5	+	9	933	c.891A>G	c.(889-891)gtA>gtG	p.V297V		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	297						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.V297V(1)									TTCTACAGGTACTTAAAACAG	0.358																																					p.V297V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A891G	8						.						147.0	151.0	150.0					8																	16955969		2203	4299	6502	17000340	SO:0001819	synonymous_variant	286097	exon9			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.891A>G	8.37:g.16955969A>G		Somatic		Capture	Illumina HiSeq	Phase_I	17000340	NM_181723	Q8IYZ3	Silent	SNP	ENST00000318063.5	37	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	A	7.651	0.682841	0.14907	.	.	ENSG00000155970	ENST00000519044	.	.	.	5.34	-3.07	0.05363	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33803	-0.9854	4	.	.	.	-0.1525	1.1237	0.01730	0.3853:0.0904:0.2341:0.2901	.	.	.	.	C	142	.	.	Y	+	2	0	EFHA2	17000340	0.941000	0.31946	0.990000	0.47175	0.755000	0.42902	0.086000	0.14935	-0.408000	0.07565	-2.501000	0.00191	TAC		0.358	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	
MTUS1	57509	broad.mit.edu	37	8	17573337	17573337	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:17573337G>T	ENST00000262102.6	-	5	2747	c.2523C>A	c.(2521-2523)tcC>tcA	p.S841S	MTUS1_ENST00000381869.3_Silent_p.S787S|MTUS1_ENST00000519263.1_Silent_p.S787S|MTUS1_ENST00000381861.3_Silent_p.S88S|MTUS1_ENST00000544260.1_5'UTR	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	841					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S88S(1)|p.S841S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCAAATAAAAGGATCCTGAGG	0.418																																					p.S787S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2361A	8						.						157.0	152.0	154.0					8																	17573337		1832	4083	5915	17617617	SO:0001819	synonymous_variant	57509	exon4			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2523C>A	8.37:g.17573337G>T		Somatic		Capture	Illumina HiSeq	Phase_I	17617617	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																				0.418	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
PCM1	5108	broad.mit.edu	37	8	17815110	17815110	+	Missense_Mutation	SNP	G	G	T	rs368148186|rs556667613	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:17815110G>T	ENST00000519253.1	+	13	2117	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	PCM1_ENST00000524226.1_Missense_Mutation_p.E623D|PCM1_ENST00000325083.8_Missense_Mutation_p.E622D			Q15154	PCM1_HUMAN	pericentriolar material 1	622					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E622D(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		aagatgatgaggaggaggagg	0.418			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								G|||	5	0.000998403	0.003	0.0	5008	,	,		19329	0.0		0.0	False		,,,				2504	0.001				p.E622D			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1866T	8						.	G	ASP/GLU	3,4055		0,3,2026	58.0	58.0	58.0		1866	-1.1	1.0	8		58	1,8379		0,1,4189	no	missense	PCM1	NM_006197.3	45	0,4,6215	TT,TG,GG		0.0119,0.0739,0.0322	benign	622/2025	17815110	4,12434	2029	4190	6219	17859390	SO:0001583	missense	5108	exon13				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1866G>T	8.37:g.17815110G>T	ENSP00000431099:p.Glu622Asp	Somatic		Capture	Illumina HiSeq	Phase_I	17859390	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	9.406	1.079303	0.20227	7.39E-4	1.19E-4	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.12147	3.6;2.71;3.6;3.33	4.88	-1.13	0.09775	.	0.484213	0.22651	N	0.057322	T	0.08537	0.0212	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.14012	0.009;0.001;0.009;0.009	B;B;B;B	0.16722	0.016;0.007;0.011;0.016	T	0.31194	-0.9952	10	0.18276	T	0.48	-3.1996	0.7756	0.01031	0.2532:0.3181:0.2112:0.2175	.	622;661;623;622	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	D	622;661;622;623	ENSP00000327077:E622D;ENSP00000428131:E661D;ENSP00000431099:E622D;ENSP00000430521:E623D	ENSP00000327077:E622D	E	+	3	2	PCM1	17859390	0.010000	0.17322	0.981000	0.43875	0.962000	0.63368	-0.397000	0.07269	-0.337000	0.08426	0.585000	0.79938	GAG		0.418	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17822080	17822080	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:17822080G>A	ENST00000519253.1	+	18	2909	c.2658G>A	c.(2656-2658)acG>acA	p.T886T	PCM1_ENST00000524226.1_Silent_p.T887T|PCM1_ENST00000325083.8_Silent_p.T886T			Q15154	PCM1_HUMAN	pericentriolar material 1	886					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.T886T(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TCACTAGAACGATGGCAACTT	0.418			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.T886T			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2658A	8						.						92.0	87.0	89.0					8																	17822080		1910	4125	6035	17866360	SO:0001819	synonymous_variant	5108	exon18				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2658G>A	8.37:g.17822080G>A		Somatic		Capture	Illumina HiSeq	Phase_I	17866360	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37																																																																																					0.418	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
SH2D4A	63898	broad.mit.edu	37	8	19177185	19177185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:19177185G>T	ENST00000265807.3	+	2	538	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	SH2D4A_ENST00000518040.1_Intron|SH2D4A_ENST00000519207.1_Nonsense_Mutation_p.E43*	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	43					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.E43*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GAAAGAAAGAGAAGCAGCTAT	0.453																																					p.E43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G127T	8						.						75.0	77.0	76.0					8																	19177185		2203	4300	6503	19221465	SO:0001587	stop_gained	63898	exon2			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.127G>T	8.37:g.19177185G>T	ENSP00000265807:p.Glu43*	Somatic		Capture	Illumina HiSeq	Phase_I	19221465	NM_022071	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Nonsense_Mutation	SNP	ENST00000265807.3	37	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	38	7.202278	0.98132	.	.	ENSG00000104611	ENST00000265807;ENST00000519207;ENST00000523736	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7361	0.88394	0.0:0.0:1.0:0.0	.	.	.	.	X	43;43;29	.	ENSP00000265807:E43X	E	+	1	0	SH2D4A	19221465	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.791000	0.99081	2.782000	0.95742	0.655000	0.94253	GAA		0.453	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	
LPL	4023	broad.mit.edu	37	8	19819647	19819647	+	Missense_Mutation	SNP	G	G	T	rs143110734		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:19819647G>T	ENST00000311322.8	+	9	1814	c.1344G>T	c.(1342-1344)gaG>gaT	p.E448D		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	448	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.		E -> K (in LPL deficiency; results in a moderate reduction in catalytic activity). {ECO:0000269|PubMed:9498099}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.E448D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GTTCTAGGGAGAAAGTGTCTC	0.438																																					p.E448D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1344T	8						.						163.0	151.0	155.0					8																	19819647		2203	4300	6503	19863927	SO:0001583	missense	4023	exon9				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1344G>T	8.37:g.19819647G>T	ENSP00000309757:p.Glu448Asp	Somatic		Capture	Illumina HiSeq	Phase_I	19863927	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	4.117	0.019844	0.08006	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.63255	-0.03	5.89	1.61	0.23674	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.341006	0.36893	N	0.002344	T	0.32941	0.0846	N	0.04724	-0.175	0.24933	N	0.991908	B	0.02656	0.0	B	0.10450	0.005	T	0.24657	-1.0154	8	.	.	.	-13.7754	6.7111	0.23278	0.1773:0.3136:0.5091:0.0	.	448	P06858	LIPL_HUMAN	D	448;434	ENSP00000309757:E448D	.	E	+	3	2	LPL	19863927	0.987000	0.35691	0.998000	0.56505	0.905000	0.53344	0.009000	0.13219	0.816000	0.34421	0.655000	0.94253	GAG		0.438	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
SLC18A1	6570	broad.mit.edu	37	8	20004775	20004775	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:20004775C>A	ENST00000276373.5	-	15	1724	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.E486D|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E454D|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E454D	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	486					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.E486D(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTACAAGCTTCTCTTCCTTTG	0.498																																					p.E486D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1458T	8						.						67.0	62.0	64.0					8																	20004775		2203	4300	6503	20049055	SO:0001583	missense	6570	exon15				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1458G>T	8.37:g.20004775C>A	ENSP00000276373:p.Glu486Asp	Somatic		Capture	Illumina HiSeq	Phase_I	20049055	NM_003053	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785419	0.70337	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;T;T;T	0.58060	0.36;3.71;3.71;0.36	5.02	1.93	0.25924	Major facilitator superfamily domain, general substrate transporter (1);	0.062481	0.64402	D	0.000006	T	0.64951	0.2645	M	0.78285	2.405	0.80722	D	1	D;D	0.62365	0.989;0.991	P;P	0.59643	0.861;0.716	T	0.66040	-0.6022	10	0.54805	T	0.06	-16.5878	9.5724	0.39436	0.0:0.7146:0.0:0.2854	.	454;486	E9PDJ5;P54219	.;VMAT1_HUMAN	D	454;486;486;454	ENSP00000265808:E454D;ENSP00000276373:E486D;ENSP00000387549:E486D;ENSP00000429664:E454D	ENSP00000265808:E454D	E	-	3	2	SLC18A1	20049055	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	1.524000	0.35942	0.664000	0.31047	0.563000	0.77884	GAG		0.498	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
SLC18A1	6570	broad.mit.edu	37	8	20008216	20008216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:20008216C>T	ENST00000276373.5	-	11	1321	c.1055G>A	c.(1054-1056)gGc>gAc	p.G352D	SLC18A1_ENST00000381608.4_Missense_Mutation_p.G352D|SLC18A1_ENST00000440926.1_Missense_Mutation_p.G352D|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G320D|SLC18A1_ENST00000437980.1_Missense_Mutation_p.G352D|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G320D	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	352					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G352D(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GAGGTTGGTGCCAATGAGGTA	0.498																																					p.G352D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	8						.						196.0	163.0	174.0					8																	20008216		2203	4300	6503	20052496	SO:0001583	missense	6570	exon11				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1055G>A	8.37:g.20008216C>T	ENSP00000276373:p.Gly352Asp	Somatic		Capture	Illumina HiSeq	Phase_I	20052496	NM_003053	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539058	0.85917	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;D;D;D;T;D	0.84298	0.18;-1.83;-1.83;-1.83;0.18;-1.83	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155397	0.64402	D	0.000019	D	0.94295	0.8167	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;1.0;1.0	D	0.95419	0.8505	10	0.87932	D	0	-13.6352	17.7207	0.88350	0.0:1.0:0.0:0.0	.	352;320;352	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	D	320;352;352;352;320;352	ENSP00000265808:G320D;ENSP00000276373:G352D;ENSP00000387549:G352D;ENSP00000413361:G352D;ENSP00000429664:G320D;ENSP00000371021:G352D	ENSP00000265808:G320D	G	-	2	0	SLC18A1	20052496	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.364000	0.66110	2.523000	0.85059	0.462000	0.41574	GGC		0.498	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
RHOBTB2	23221	broad.mit.edu	37	8	22862116	22862116	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:22862116G>A	ENST00000251822.6	+	2	706	c.169G>A	c.(169-171)Gac>Aac	p.D57N	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D64N|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D79N|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	57	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.D57N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATGGGCCATCGACCAATATCG	0.622											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	8						.						65.0	56.0	59.0					8																	22862116		2203	4300	6503	22918061	SO:0001583	missense	23221	exon4			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.169G>A	8.37:g.22862116G>A	ENSP00000251822:p.Asp57Asn	Somatic	759	Capture	Illumina HiSeq	Phase_I	22918061	NM_001160036	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602030	0.96614	.	.	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	4.73	4.73	0.59995	.	0.047563	0.85682	N	0.000000	D	0.89839	0.6831	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91305	0.5070	10	0.87932	D	0	.	16.4336	0.83861	0.0:0.0:1.0:0.0	.	64;57;79	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	N	79;79;64;57	ENSP00000427926:D79N;ENSP00000430785:D79N;ENSP00000429141:D64N;ENSP00000251822:D57N	ENSP00000251822:D57N	D	+	1	0	RHOBTB2	22918061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.644000	0.98468	2.456000	0.83038	0.561000	0.74099	GAC		0.622	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2		
CHMP7	91782	broad.mit.edu	37	8	23115883	23115883	+	Missense_Mutation	SNP	G	G	A	rs149875498		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:23115883G>A	ENST00000397677.1	+	7	1529	c.881G>A	c.(880-882)cGc>cAc	p.R294H	CHMP7_ENST00000313219.7_Missense_Mutation_p.R294H|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	294					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.R294H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACAGAGAAGCGCATCGAGGCC	0.567																																					p.R294H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G881A	8						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	220.0	184.0	196.0		881	5.9	1.0	8	dbSNP_134	196	0,8600		0,0,4300	no	missense	CHMP7	NM_152272.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	294/454	23115883	1,13005	2203	4300	6503	23171828	SO:0001583	missense	91782	exon7			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.881G>A	8.37:g.23115883G>A	ENSP00000380794:p.Arg294His	Somatic		Capture	Illumina HiSeq	Phase_I	23171828	NM_152272	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723433	0.68959	2.27E-4	0.0	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.71934	-0.61;-0.61	5.91	5.91	0.95273	.	0.042063	0.85682	D	0.000000	T	0.81437	0.4822	M	0.63428	1.95	0.46317	D	0.998984	D;B	0.76494	0.999;0.324	D;B	0.65773	0.938;0.051	T	0.79820	-0.1642	10	0.42905	T	0.14	-7.9904	16.9982	0.86373	0.0:0.0:1.0:0.0	.	184;294	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	H	294	ENSP00000380794:R294H;ENSP00000324491:R294H	ENSP00000324491:R294H	R	+	2	0	CHMP7	23171828	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.721000	0.74728	2.801000	0.96364	0.655000	0.94253	CGC		0.567	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272	
LOXL2	4017	broad.mit.edu	37	8	23185969	23185969	+	Missense_Mutation	SNP	G	G	A	rs4602894	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:23185969G>A	ENST00000389131.3	-	6	1445	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L	LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	359	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.		S -> W (in dbSNP:rs4602894).		aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.S359L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACACTGGCCGACACCAGGTC	0.632													G|||	4	0.000798722	0.0	0.0	5008	,	,		16122	0.004		0.0	False		,,,				2504	0.0				p.S359L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1076T	8						.						103.0	84.0	90.0					8																	23185969		2203	4300	6503	23241914	SO:0001583	missense	4017	exon6			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1076C>T	8.37:g.23185969G>A	ENSP00000373783:p.Ser359Leu	Somatic		Capture	Illumina HiSeq	Phase_I	23241914	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	25.5|25.5	4.641069|4.641069	0.87859|0.87859	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000520349|ENST00000389131	.|T	.|0.35789	.|1.29	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.|0.277610	.|0.42053	.|D	.|0.000763	T|T	0.47728|0.47728	0.1461|0.1461	M|M	0.63843|0.63843	1.955|1.955	0.51767|0.51767	D|D	0.999937|0.999937	.|P	.|0.51653	.|0.947	.|P	.|0.49276	.|0.605	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.62326	.|D	.|0.03	.|.	17.6925|17.6925	0.88272|0.88272	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|359	.|Q9Y4K0	.|LOXL2_HUMAN	W|L	76|359	.|ENSP00000373783:S359L	.|ENSP00000373783:S359L	R|S	-|-	1|2	2|0	LOXL2|LOXL2	23241914|23241914	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.927000|0.927000	0.56198|0.56198	9.779000|9.779000	0.99018|0.99018	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	CGG|TCG		0.632	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
ADAMDEC1	27299	broad.mit.edu	37	8	24253276	24253276	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:24253276C>A	ENST00000256412.4	+	5	627	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.S57Y|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.S57Y	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	136					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S136Y(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAAAGAATTCTGTTGCCAGC	0.368																																					p.S57Y	Ovarian(147;687 1849 3699 25981 31337)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170A	8						.						111.0	114.0	113.0					8																	24253276		2203	4300	6503	24309221	SO:0001583	missense	27299	exon4			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.407C>A	8.37:g.24253276C>A	ENSP00000256412:p.Ser136Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	24309221	NM_001145272	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736559	0.69304	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.13307	2.6;2.6;2.6	5.61	5.61	0.85477	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000016	T	0.50548	0.1622	H	0.95470	3.675	0.37116	D	0.900573	D	0.89917	1.0	D	0.97110	1.0	T	0.69250	-0.5194	10	0.87932	D	0	-30.9177	15.1214	0.72447	0.0:1.0:0.0:0.0	.	136	O15204	ADEC1_HUMAN	Y	136;57;57	ENSP00000256412:S136Y;ENSP00000442592:S57Y;ENSP00000428993:S57Y	ENSP00000256412:S136Y	S	+	2	0	ADAMDEC1	24309221	0.998000	0.40836	0.965000	0.40720	0.798000	0.45092	4.544000	0.60691	2.624000	0.88883	0.563000	0.77884	TCT		0.368	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
NEFM	4741	broad.mit.edu	37	8	24774816	24774816	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:24774816C>T	ENST00000221166.5	+	3	2230	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	NEFM_ENST00000518131.1_Missense_Mutation_p.S483F|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.S107F|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.S483F			P07197	NFM_HUMAN	neurofilament, medium polypeptide	483	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.S483F(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTGGCCGTTTCCATgaaggaa	0.453																																					p.S107F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320T	8						.						51.0	52.0	52.0					8																	24774816		2203	4300	6503	24830721	SO:0001583	missense	4741	exon3			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1448C>T	8.37:g.24774816C>T	ENSP00000221166:p.Ser483Phe	Somatic		Capture	Illumina HiSeq	Phase_I	24830721	NM_001105541	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	5.555	0.287328	0.10513	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94376	-1.76;-1.75;-1.76;-3.41	4.65	4.65	0.58169	.	0.391554	0.19499	N	0.112774	D	0.91529	0.7325	M	0.79123	2.44	0.09310	N	1	B;P	0.41265	0.255;0.744	B;B	0.36666	0.077;0.23	D	0.87717	0.2570	10	0.72032	D	0.01	.	9.1173	0.36766	0.0:0.8983:0.0:0.1017	.	483;483	E7EMV2;P07197	.;NFM_HUMAN	F	483;483;483;107	ENSP00000221166:S483F;ENSP00000427872:S483F;ENSP00000410137:S483F;ENSP00000412295:S107F	ENSP00000221166:S483F	S	+	2	0	NEFM	24830721	0.792000	0.28813	0.439000	0.26833	0.200000	0.23975	2.221000	0.42917	2.264000	0.75181	0.467000	0.42956	TCC		0.453	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
NEFL	4747	broad.mit.edu	37	8	24811753	24811753	+	RNA	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:24811753C>A	ENST00000221169.5	-	0	1705				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.E371*(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCTTGGTATTCTTTTAGGTAT	0.373																																					p.E371X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1111T	8						.						260.0	254.0	256.0					8																	24811753		1927	4176	6103	24867670			4747	exon2				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811753C>A		Somatic		Capture	Illumina HiSeq	Phase_I	24867670	NM_006158	B9ZVN2|Q16154|Q8IU72	Nonsense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.373	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
NEFL	4747	broad.mit.edu	37	8	24813348	24813348	+	RNA	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:24813348C>T	ENST00000221169.5	-	0	1276				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.E228K(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCCTCTTCGTGCACTTTC	0.612																																					p.E228K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	8						.						39.0	42.0	41.0					8																	24813348		2065	4200	6265	24869265			4747	exon1				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813348C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24869265	NM_006158	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.612	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
DOCK5	80005	broad.mit.edu	37	8	25220616	25220616	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:25220616C>A	ENST00000276440.7	+	29	3047	c.3003C>A	c.(3001-3003)gtC>gtA	p.V1001V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1001					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1001V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGAATGTCTATGCCAAAG	0.468																																					p.V1001V	Pancreas(145;34 1887 3271 10937 30165)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3003A	8						.						150.0	149.0	149.0					8																	25220616		2203	4300	6503	25276533	SO:0001819	synonymous_variant	80005	exon29				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3003C>A	8.37:g.25220616C>A		Somatic		Capture	Illumina HiSeq	Phase_I	25276533	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	9.318	1.057289	0.19907	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.85	-4.33	0.03677	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	.	3.0861	0.06278	0.0869:0.3282:0.2912:0.2937	.	.	.	.	I	773	.	.	L	+	1	2	DOCK5	25276533	0.124000	0.22315	0.933000	0.37362	0.919000	0.55068	-0.718000	0.04980	-0.680000	0.05211	0.650000	0.86243	CTA		0.468	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
CDCA2	157313	broad.mit.edu	37	8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T	rs371312809		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	328					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R328C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458																																					p.R328C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C982T	8						.	C	CYS/ARG	0,4406		0,0,2203	112.0	99.0	103.0		982	5.3	1.0	8		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCA2	NM_152562.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/1024	25337590	1,13005	2203	4300	6503	25393507	SO:0001583	missense	157313	exon8			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.982C>T	8.37:g.25337590C>T	ENSP00000328228:p.Arg328Cys	Somatic		Capture	Illumina HiSeq	Phase_I	25393507	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692993	0.68271	0.0	1.16E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	.	0.082402	0.50627	D	0.000103	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80139	-0.1507	10	0.87932	D	0	-18.3521	14.3712	0.66840	0.0:1.0:0.0:0.0	.	328;313;328	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	328;313	ENSP00000328228:R328C;ENSP00000370040:R313C	ENSP00000328228:R328C	R	+	1	0	CDCA2	25393507	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	3.662000	0.54510	2.773000	0.95371	0.650000	0.86243	CGT		0.458	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
CHRNA2	1135	broad.mit.edu	37	8	27321330	27321330	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:27321330C>A	ENST00000520933.2	-	5	783	c.630G>T	c.(628-630)aaG>aaT	p.K210N	CHRNA2_ENST00000407991.1_Missense_Mutation_p.K210N|CHRNA2_ENST00000240132.2_Missense_Mutation_p.K195N			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	210					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.K210N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CCAGGTCGATCTTGGCCTTGT	0.557																																					p.K210N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G630T	8						.						195.0	149.0	164.0					8																	27321330		2203	4300	6503	27377247	SO:0001583	missense	1135	exon6			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.630G>T	8.37:g.27321330C>A	ENSP00000429616:p.Lys210Asn	Somatic		Capture	Illumina HiSeq	Phase_I	27377247	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624186	0.66901	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79454	-1.27;-1.27;-1.27	4.97	4.09	0.47781	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101407	0.64402	D	0.000003	D	0.86197	0.5875	M	0.78637	2.42	0.49915	D	0.999831	D;D	0.56521	0.976;0.976	P;D	0.64144	0.887;0.922	D	0.87764	0.2600	10	0.72032	D	0.01	.	13.1206	0.59325	0.0:0.8379:0.1621:0.0	.	195;210	B4DK19;Q15822	.;ACHA2_HUMAN	N	210;210;195	ENSP00000385026:K210N;ENSP00000429616:K210N;ENSP00000240132:K195N	ENSP00000240132:K195N	K	-	3	2	CHRNA2	27377247	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.493000	0.53266	1.308000	0.44962	-0.305000	0.09177	AAG		0.557	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
SCARA3	51435	broad.mit.edu	37	8	27516747	27516747	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:27516747G>A	ENST00000301904.3	+	5	1080	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	SCARA3_ENST00000337221.4_Missense_Mutation_p.E354K	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	354					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.E354K(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCTTCTCACGAGATTGAAAT	0.532																																					p.E354K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060A	8						.						172.0	134.0	147.0					8																	27516747		2203	4300	6503	27572666	SO:0001583	missense	51435	exon5			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1060G>A	8.37:g.27516747G>A	ENSP00000301904:p.Glu354Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27572666	NM_182826	Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153132	0.78001	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.97352	-1.45;-4.35	6.17	6.17	0.99709	.	0.219024	0.44097	D	0.000481	D	0.96750	0.8939	L	0.29908	0.895	0.44547	D	0.997504	D;D	0.71674	0.998;0.998	P;P	0.58391	0.838;0.771	D	0.97098	0.9795	10	0.72032	D	0.01	-36.7879	18.3732	0.90420	0.0:0.0:1.0:0.0	.	354;354	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	K	354	ENSP00000337985:E354K;ENSP00000301904:E354K	ENSP00000301904:E354K	E	+	1	0	SCARA3	27572666	1.000000	0.71417	0.983000	0.44433	0.943000	0.58893	4.329000	0.59260	2.941000	0.99782	0.655000	0.94253	GAG		0.532	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240	
NUGGC	389643	broad.mit.edu	37	8	27880918	27880918	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:27880918C>A	ENST00000413272.2	-	19	2449	c.2307G>T	c.(2305-2307)gaG>gaT	p.E769D	NUGGC_ENST00000341513.6_Missense_Mutation_p.E769D	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	769					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E769D(1)									GCCGTGCATTCTCCGCGACCT	0.572																																					p.E769D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2307T	8						.						76.0	76.0	76.0					8																	27880918		2001	4177	6178	27936837	SO:0001583	missense	389643	exon19			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2307G>T	8.37:g.27880918C>A	ENSP00000408697:p.Glu769Asp	Somatic		Capture	Illumina HiSeq	Phase_I	27936837	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099215	0.56183	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.16897	2.31;2.31	5.41	4.52	0.55395	.	0.000000	0.64402	D	0.000008	T	0.27832	0.0685	L	0.29908	0.895	0.30818	N	0.738115	D	0.76494	0.999	D	0.78314	0.991	T	0.11203	-1.0597	10	0.87932	D	0	-29.7989	10.7922	0.46440	0.0:0.9106:0.0:0.0894	.	769	Q68CJ6	SLIP_HUMAN	D	769	ENSP00000408697:E769D;ENSP00000345031:E769D	ENSP00000345031:E769D	E	-	3	2	C8orf80	27936837	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	1.373000	0.34272	1.382000	0.46385	0.591000	0.81541	GAG		0.572	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
NUGGC	389643	broad.mit.edu	37	8	27888777	27888777	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:27888777T>G	ENST00000413272.2	-	15	2033	c.1891A>C	c.(1891-1893)Aat>Cat	p.N631H	NUGGC_ENST00000341513.6_Missense_Mutation_p.N631H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	631					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N631H(1)									ATCAGGAAATTTTTTTTGCAG	0.448																																					p.N631H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1891C	8						.						167.0	171.0	170.0					8																	27888777		1898	4101	5999	27944696	SO:0001583	missense	389643	exon15			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1891A>C	8.37:g.27888777T>G	ENSP00000408697:p.Asn631His	Somatic		Capture	Illumina HiSeq	Phase_I	27944696	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	5.170	0.216992	0.09810	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.30448	1.53;1.53	5.23	2.77	0.32553	.	0.896238	0.09933	N	0.736973	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	P	0.35600	0.511	B	0.31191	0.125	T	0.19192	-1.0313	10	0.27082	T	0.32	-2.7781	5.6929	0.17839	0.1629:0.0:0.1961:0.6409	.	631	Q68CJ6	SLIP_HUMAN	H	631	ENSP00000408697:N631H;ENSP00000345031:N631H	ENSP00000345031:N631H	N	-	1	0	C8orf80	27944696	0.000000	0.05858	0.013000	0.15412	0.234000	0.25298	0.600000	0.24104	0.283000	0.22279	-0.331000	0.08364	AAT		0.448	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
FZD3	7976	broad.mit.edu	37	8	28385376	28385376	+	Missense_Mutation	SNP	G	G	A	rs372290611		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:28385376G>A	ENST00000240093.3	+	5	1577	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	FZD3_ENST00000537916.1_Missense_Mutation_p.D367N|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	367					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D367N(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TGGCCTCTACGATGTTGATGC	0.443																																					p.D367N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1099A	8						.	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	144.0	141.0	142.0		1099,1099	5.1	1.0	8		142	0,8600		0,0,4300	no	missense,missense	FZD3	NM_017412.3,NM_145866.1	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	367/667,367/667	28385376	1,13005	2203	4300	6503	28441295	SO:0001583	missense	7976	exon4			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1099G>A	8.37:g.28385376G>A	ENSP00000240093:p.Asp367Asn	Somatic		Capture	Illumina HiSeq	Phase_I	28441295	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478444	0.44044	2.27E-4	0.0	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.81415	-1.49;-1.49	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	L	0.38649	1.16	0.80722	D	1	P	0.40970	0.734	B	0.40825	0.341	T	0.73142	-0.4076	10	0.25751	T	0.34	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	367	Q9NPG1	FZD3_HUMAN	N	367	ENSP00000437489:D367N;ENSP00000240093:D367N	ENSP00000240093:D367N	D	+	1	0	FZD3	28441295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.877000	0.63086	2.371000	0.80710	0.563000	0.77884	GAT		0.443	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
TEX15	56154	broad.mit.edu	37	8	30702046	30702046	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:30702046G>T	ENST00000256246.2	-	1	4562	c.4488C>A	c.(4486-4488)atC>atA	p.I1496I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1496					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.I1496I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTCTTCTGAGATCTGATTCT	0.333																																					p.I1496I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4488A	8						.						121.0	123.0	122.0					8																	30702046		2203	4298	6501	30821588	SO:0001819	synonymous_variant	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4488C>A	8.37:g.30702046G>T		Somatic		Capture	Illumina HiSeq	Phase_I	30821588	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30703493	30703493	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:30703493G>T	ENST00000256246.2	-	1	3115	c.3041C>A	c.(3040-3042)tCt>tAt	p.S1014Y	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1014					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1014Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCTGCAAAGATGTGTGAAC	0.338																																					p.S1014Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3041A	8						.						111.0	123.0	119.0					8																	30703493		2203	4297	6500	30823035	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3041C>A	8.37:g.30703493G>T	ENSP00000256246:p.Ser1014Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30823035	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827609	0.71143	.	.	ENSG00000133863	ENST00000256246	T	0.22945	1.93	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000027	T	0.47948	0.1473	L	0.55481	1.735	0.40351	D	0.979131	D	0.89917	1.0	D	0.91635	0.999	T	0.45512	-0.9256	10	0.87932	D	0	.	16.5712	0.84613	0.0:0.0:1.0:0.0	.	1014	Q9BXT5	TEX15_HUMAN	Y	1014	ENSP00000256246:S1014Y	ENSP00000256246:S1014Y	S	-	2	0	TEX15	30823035	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.581000	0.67471	2.647000	0.89833	0.467000	0.42956	TCT		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
NRG1	3084	broad.mit.edu	37	8	31498134	31498134	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:31498134G>A	ENST00000520407.1	+	1	864	c.634G>A	c.(634-636)Gac>Aac	p.D212N	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	595	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.D212N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATGGAGCCCGACGCCAACAG	0.692																																					p.D212N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634A	8						.						13.0	17.0	16.0					8																	31498134		1976	4113	6089	31617676	SO:0001583	missense	3084	exon1			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520407.1:c.634G>A	8.37:g.31498134G>A	ENSP00000434640:p.Asp212Asn	Somatic		Capture	Illumina HiSeq	Phase_I	31617676	NM_013962	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000520407.1	37	CCDS47836.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423448	0.43020	.	.	ENSG00000157168	ENST00000520407;ENST00000523534	T;T	0.73575	-0.76;-0.57	4.53	3.63	0.41609	.	.	.	.	.	T	0.54727	0.1876	.	.	.	0.80722	D	1	P	0.34546	0.456	B	0.24701	0.055	T	0.47262	-0.9131	8	0.17369	T	0.5	.	10.3731	0.44066	0.0:0.1999:0.8:0.0	.	212	Q02297-9	.	N	212;65	ENSP00000434640:D212N;ENSP00000429067:D65N	ENSP00000434640:D212N	D	+	1	0	NRG1	31617676	0.912000	0.30974	0.394000	0.26270	0.964000	0.63967	2.198000	0.42705	0.861000	0.35504	0.563000	0.77884	GAC		0.692	NRG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376412.2		
DUSP26	78986	broad.mit.edu	37	8	33449621	33449621	+	Silent	SNP	G	G	T	rs149055106		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:33449621G>T	ENST00000256261.4	-	4	1063	c.546C>A	c.(544-546)gtC>gtA	p.V182V	DUSP26_ENST00000523956.1_Silent_p.V182V	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	182	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.V182V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGTGGTCTTTGACTTTCTTGA	0.637																																					p.V182V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546A	8						.	G		1,4405	2.1+/-5.4	0,1,2202	107.0	93.0	98.0		546	3.0	1.0	8	dbSNP_134	98	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DUSP26	NM_024025.1		0,3,6500	TT,TG,GG		0.0233,0.0227,0.0231		182/212	33449621	3,13003	2203	4300	6503	33569163	SO:0001819	synonymous_variant	78986	exon4			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.546C>A	8.37:g.33449621G>T		Somatic		Capture	Illumina HiSeq	Phase_I	33569163	NM_024025	D3DSV8|Q9BTW0	Silent	SNP	ENST00000256261.4	37	CCDS6092.1																																																																																				0.637	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025	
UNC5D	137970	broad.mit.edu	37	8	35406889	35406889	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:35406889T>C	ENST00000404895.2	+	2	511	c.183T>C	c.(181-183)gaT>gaC	p.D61D	UNC5D_ENST00000453357.2_Silent_p.D56D|UNC5D_ENST00000416672.1_Silent_p.D61D|UNC5D_ENST00000287272.2_Silent_p.D61D|UNC5D_ENST00000420357.1_Silent_p.D61D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	61	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D56D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGAGCCAGATGATGCTTATA	0.483																																					p.D61D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T183C	8						.						67.0	63.0	65.0					8																	35406889		2203	4300	6503	35526431	SO:0001819	synonymous_variant	137970	exon2			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.183T>C	8.37:g.35406889T>C		Somatic		Capture	Illumina HiSeq	Phase_I	35526431	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																				0.483	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
KCNU1	157855	broad.mit.edu	37	8	36662788	36662788	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:36662788C>A	ENST00000399881.3	+	4	490	c.453C>A	c.(451-453)ttC>ttA	p.F151L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	151					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F151L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTTTAGTTTCTATTTTGGAT	0.383																																					p.F151L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C453A	8						.						174.0	153.0	159.0					8																	36662788		1853	4088	5941	36781946	SO:0001583	missense	157855	exon4			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.453C>A	8.37:g.36662788C>A	ENSP00000382770:p.Phe151Leu	Somatic		Capture	Illumina HiSeq	Phase_I	36781946	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910814	0.17833	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98249	-4.82;-4.82	5.46	4.47	0.54385	Ion transport (1);	0.101290	0.40554	U	0.001076	D	0.92051	0.7481	N	0.05351	-0.065	0.80722	D	1	P	0.48089	0.905	P	0.46362	0.514	D	0.90017	0.4125	10	0.02654	T	1	-0.4078	3.0023	0.06017	0.2679:0.5579:0.0:0.1743	.	151	A8MYU2	KCNU1_HUMAN	L	151	ENSP00000429951:F151L;ENSP00000382770:F151L	ENSP00000382770:F151L	F	+	3	2	KCNU1	36781946	0.720000	0.27996	1.000000	0.80357	0.956000	0.61745	-0.359000	0.07632	2.572000	0.86782	0.655000	0.94253	TTC		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
KCNU1	157855	broad.mit.edu	37	8	36780117	36780117	+	Silent	SNP	C	C	T	rs186727015		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:36780117C>T	ENST00000399881.3	+	24	2743	c.2706C>T	c.(2704-2706)tcC>tcT	p.S902S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	902	Segment S10.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S902S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGTTTTTTCCGGCAGCTTCT	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16429	0.0		0.0	False		,,,				2504	0.0				p.S902S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2706T	8						.	C		0,3750		0,0,1875	97.0	95.0	96.0		2706	-10.8	0.2	8		96	5,8231		0,5,4113	no	coding-synonymous	KCNU1	NM_001031836.2		0,5,5988	TT,TC,CC		0.0607,0.0,0.0417		902/1150	36780117	5,11981	1875	4118	5993	36899275	SO:0001819	synonymous_variant	157855	exon24			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2706C>T	8.37:g.36780117C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36899275	NM_001031836		Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																				0.493	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ASH2L	9070	broad.mit.edu	37	8	37985892	37985892	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:37985892C>T	ENST00000343823.6	+	11	1558	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	ASH2L_ENST00000428278.2_Missense_Mutation_p.R323W|ASH2L_ENST00000250635.7_Missense_Mutation_p.R323W|ASH2L_ENST00000545394.1_Missense_Mutation_p.R278W|ASH2L_ENST00000521652.1_Missense_Mutation_p.R323W	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	417	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.R417W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TCATGGAGTACGGAAAGGTGC	0.542																																					p.R323W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C967T	8						.						79.0	72.0	74.0					8																	37985892		2203	4300	6503	38105049	SO:0001583	missense	9070	exon11			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1249C>T	8.37:g.37985892C>T	ENSP00000340896:p.Arg417Trp	Somatic		Capture	Illumina HiSeq	Phase_I	38105049	NM_001105214	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.327280|4.327280	0.81690|0.81690	.|.	.|.	ENSG00000129691|ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652|ENST00000524247	T;T;T;T;T|.	0.74002|.	-0.8;-0.8;-0.8;-0.8;-0.8|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62380|0.62380	0.2423|0.2423	L|L	0.42632|0.42632	1.34|1.34	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.496;1.0|.	B;D|.	0.77557|.	0.254;0.99|.	T|T	0.56625|0.56625	-0.7948|-0.7948	10|5	0.66056|.	D|.	0.02|.	.|.	16.3321|16.3321	0.83039|0.83039	0.1324:0.8676:0.0:0.0|0.1324:0.8676:0.0:0.0	.|.	323;417|.	Q9UBL3-2;Q9UBL3|.	.;ASH2L_HUMAN|.	W|M	417;323;278;323;323|12	ENSP00000340896:R417W;ENSP00000250635:R323W;ENSP00000443606:R278W;ENSP00000395310:R323W;ENSP00000430259:R323W|.	ENSP00000250635:R323W|.	R|T	+|+	1|2	2|0	ASH2L|ASH2L	38105049|38105049	0.895000|0.895000	0.30542|0.30542	0.971000|0.971000	0.41717|0.41717	0.574000|0.574000	0.36063|0.36063	1.839000|1.839000	0.39220|0.39220	2.753000|2.753000	0.94483|0.94483	0.555000|0.555000	0.69702|0.69702	CGG|ACG		0.542	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	
LSM1	27257	broad.mit.edu	37	8	38021226	38021226	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:38021226G>T	ENST00000311351.4	-	4	759	c.364C>A	c.(364-366)Ctt>Att	p.L122I	RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000520755.1_3'UTR|RP11-90P5.7_ENST00000521915.1_RNA|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	122					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L122I(1)		kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					GGAATGGAAAGACCTCGGTCC	0.473																																					p.L122I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364A	8						.						140.0	116.0	124.0					8																	38021226		2203	4300	6503	38140383	SO:0001583	missense	27257	exon4			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.364C>A	8.37:g.38021226G>T	ENSP00000310596:p.Leu122Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38140383	NM_014462	B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309121	0.81247	.	.	ENSG00000175324	ENST00000311351	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.79926	2.475	0.80722	D	1	P	0.42961	0.795	B	0.35727	0.209	T	0.68655	-0.5351	9	0.37606	T	0.19	-27.7099	20.3018	0.98617	0.0:0.0:1.0:0.0	.	122	O15116	LSM1_HUMAN	I	122	.	ENSP00000310596:L122I	L	-	1	0	LSM1	38140383	1.000000	0.71417	0.924000	0.36721	0.726000	0.41606	7.505000	0.81655	2.799000	0.96334	0.650000	0.86243	CTT		0.473	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462	
BAG4	9530	broad.mit.edu	37	8	38067637	38067637	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:38067637C>A	ENST00000287322.4	+	5	1271	c.1000C>A	c.(1000-1002)Ctt>Att	p.L334I	BAG4_ENST00000432471.2_Missense_Mutation_p.L298I	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	334					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.L334I(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGATTCAGATCTTTTGGATTC	0.468																																					p.L334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000A	8						.						162.0	131.0	142.0					8																	38067637		2203	4300	6503	38186794	SO:0001583	missense	9530	exon5			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1000C>A	8.37:g.38067637C>A	ENSP00000287322:p.Leu334Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38186794	NM_004874	B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014417	0.35511	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	T;T	0.81163	-1.43;-1.46	5.11	4.22	0.49857	.	0.159396	0.40385	N	0.001102	T	0.67979	0.2951	L	0.32530	0.975	0.35341	D	0.786497	B;P	0.37466	0.025;0.596	B;B	0.32465	0.009;0.146	T	0.71441	-0.4592	10	0.22109	T	0.4	-7.1987	12.6428	0.56718	0.1658:0.8342:0.0:0.0	.	298;334	B4E217;O95429	.;BAG4_HUMAN	I	298;334	ENSP00000393298:L298I;ENSP00000287322:L334I	ENSP00000287322:L334I	L	+	1	0	BAG4	38186794	0.001000	0.12720	0.566000	0.28421	0.889000	0.51656	1.166000	0.31834	1.244000	0.43870	-0.188000	0.12872	CTT		0.468	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874	
KAT6A	7994	broad.mit.edu	37	8	41794925	41794925	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:41794925G>A	ENST00000396930.3	-	17	3744	c.3201C>T	c.(3199-3201)atC>atT	p.I1067I	KAT6A_ENST00000265713.2_Silent_p.I1067I|KAT6A_ENST00000406337.1_Silent_p.I1067I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1067					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1067I(1)									CTTCTTCATCGATCTCAAACG	0.433																																					p.I1067I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3201T	8						.						124.0	120.0	121.0					8																	41794925		2203	4300	6503	41914082	SO:0001819	synonymous_variant	7994	exon17			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3201C>T	8.37:g.41794925G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41914082	NM_001099413	Q76L81	Silent	SNP	ENST00000396930.3	37	CCDS6124.1																																																																																				0.433	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KAT6A	7994	broad.mit.edu	37	8	41906260	41906260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:41906260C>T	ENST00000396930.3	-	3	779	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	KAT6A_ENST00000265713.2_Missense_Mutation_p.R79Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.R79Q|KAT6A_ENST00000485568.1_Missense_Mutation_p.R79Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	79	Required for activation of RUNX1-1.|Required for nuclear localization.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R79Q(1)									AAGTGCTATTCGCCCAGGATT	0.378																																					p.R79Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236A	8						.						169.0	168.0	168.0					8																	41906260		2203	4300	6503	42025417	SO:0001583	missense	7994	exon3			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.236G>A	8.37:g.41906260C>T	ENSP00000380136:p.Arg79Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42025417	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116255	0.56505	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.85484	-0.01;-0.01;-0.01;-1.99	5.68	5.68	0.88126	.	0.000000	0.53938	D	0.000046	D	0.91720	0.7382	M	0.62016	1.91	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.91955	0.5574	10	0.87932	D	0	-16.2031	19.7936	0.96469	0.0:1.0:0.0:0.0	.	79;79	A5PLL3;Q92794	.;KAT6A_HUMAN	Q	79	ENSP00000265713:R79Q;ENSP00000385888:R79Q;ENSP00000380136:R79Q;ENSP00000430606:R79Q	ENSP00000265713:R79Q	R	-	2	0	KAT6A	42025417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.379000	0.79691	2.677000	0.91161	0.563000	0.77884	CGA		0.378	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
CHRNA6	8973	broad.mit.edu	37	8	42611559	42611559	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:42611559G>T	ENST00000276410.2	-	5	1138	c.783C>A	c.(781-783)gtC>gtA	p.V261V	CHRNA6_ENST00000534622.1_Silent_p.V246V|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	261					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.V261V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GAAGGTAAAAGACCAACACGG	0.388																																					p.V261V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C783A	8						.						101.0	95.0	97.0					8																	42611559		2203	4300	6503	42730716	SO:0001819	synonymous_variant	8973	exon5			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.783C>A	8.37:g.42611559G>T		Somatic		Capture	Illumina HiSeq	Phase_I	42730716	NM_004198	B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	CCDS6135.1																																																																																				0.388	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
FNTA	2339	broad.mit.edu	37	8	42919292	42919292	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:42919292G>T	ENST00000302279.3	+	3	529	c.335G>T	c.(334-336)aGa>aTa	p.R112I	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R69I|FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000342116.4_Intron	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	112					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.R112I(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGTGATGAAAGAAGTGAACGA	0.393																																					p.R112I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335T	8						.						199.0	187.0	191.0					8																	42919292		2203	4300	6503	43038449	SO:0001583	missense	2339	exon3			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.335G>T	8.37:g.42919292G>T	ENSP00000303423:p.Arg112Ile	Somatic		Capture	Illumina HiSeq	Phase_I	43038449	NM_002027	A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229692	0.58777	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.039835	0.85682	D	0.000000	T	0.47728	0.1461	L	0.45051	1.395	0.80722	D	1	B;B	0.21147	0.042;0.052	B;B	0.16722	0.016;0.004	T	0.47142	-0.9140	9	0.49607	T	0.09	-14.0237	9.5211	0.39135	0.0965:0.0:0.9035:0.0	.	21;112	A8MVX8;P49354	.;FNTA_HUMAN	I	69;112;94;50	.	ENSP00000303423:R112I	R	+	2	0	FNTA;RP11-598P20.5	43038449	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.138000	0.50570	2.335000	0.79485	0.555000	0.69702	AGA		0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027	
HGSNAT	138050	broad.mit.edu	37	8	43002153	43002153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:43002153G>T	ENST00000458501.2	+	2	265	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	HGSNAT_ENST00000379644.4_Nonsense_Mutation_p.E61*			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	89					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.E89*(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CATCCATAATGAACTTCTCTG	0.373																																					p.E61X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G181T	8						.						150.0	143.0	145.0					8																	43002153		1905	4127	6032	43121310	SO:0001587	stop_gained	138050	exon2				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.265G>T	8.37:g.43002153G>T	ENSP00000389524:p.Glu89*	Somatic		Capture	Illumina HiSeq	Phase_I	43121310	NM_152419	B4E2V0	Nonsense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	15.14	2.746074	0.49151	.	.	ENSG00000165102	ENST00000458501;ENST00000332689;ENST00000379644	.	.	.	5.27	5.27	0.74061	.	0.199475	0.41001	D	0.000972	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-26.4451	14.4699	0.67509	0.0:0.0:1.0:0.0	.	.	.	.	X	89;61;61	.	ENSP00000327833:E61X	E	+	1	0	HGSNAT	43121310	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	4.643000	0.61390	2.468000	0.83385	0.456000	0.33151	GAA		0.373	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
HGSNAT	138050	broad.mit.edu	37	8	43033256	43033256	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:43033256G>T	ENST00000458501.2	+	10	975	c.975G>T	c.(973-975)atG>atT	p.M325I	HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Missense_Mutation_p.M297I|HGSNAT_ENST00000297798.7_5'Flank			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	325					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.M325I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTCTATCGATGACTTCTATAC	0.343																																					p.M297I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G891T	8						.						166.0	164.0	165.0					8																	43033256		1812	4069	5881	43152413	SO:0001583	missense	138050	exon10				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.975G>T	8.37:g.43033256G>T	ENSP00000389524:p.Met325Ile	Somatic		Capture	Illumina HiSeq	Phase_I	43152413	NM_152419	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	13.36	2.213500	0.39102	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.84146	-1.81;-1.81;-1.81	5.68	5.68	0.88126	.	0.272209	0.37669	N	0.001997	T	0.77018	0.4069	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.70040	-0.4981	10	0.28530	T	0.3	-24.6121	17.3387	0.87289	0.0:0.0:1.0:0.0	.	325	Q68CP4	HGNAT_HUMAN	I	325;297;44	ENSP00000389524:M325I;ENSP00000368965:M297I;ENSP00000430151:M44I	ENSP00000368965:M297I	M	+	3	0	HGSNAT	43152413	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.604000	0.61112	2.698000	0.92095	0.650000	0.86243	ATG		0.343	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
HGSNAT	138050	broad.mit.edu	37	8	43053012	43053012	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:43053012C>A	ENST00000458501.2	+	17	1727	c.1727C>A	c.(1726-1728)tCt>tAt	p.S576Y	HGSNAT_ENST00000521576.1_Missense_Mutation_p.S265Y|HGSNAT_ENST00000379644.4_Missense_Mutation_p.S548Y|HGSNAT_ENST00000297798.7_Missense_Mutation_p.S280Y			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	576					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.S280Y(1)|p.S576Y(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACGCTCAGTTCTTTTGCCTTC	0.507																																					p.S548Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1643A	8						.						155.0	157.0	156.0					8																	43053012		1974	4159	6133	43172169	SO:0001583	missense	138050	exon17				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1727C>A	8.37:g.43053012C>A	ENSP00000389524:p.Ser576Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	43172169	NM_152419	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	C	19.02	3.745079	0.69418	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.97	1.59	0.23543	.	0.322391	0.37577	N	0.002031	D	0.89378	0.6698	M	0.80982	2.52	0.26469	N	0.975302	P	0.44659	0.84	P	0.50754	0.649	T	0.82975	-0.0190	10	0.87932	D	0	-8.2481	9.7093	0.40236	0.0:0.3231:0.589:0.088	.	576	Q68CP4	HGNAT_HUMAN	Y	576;548;265;280	ENSP00000389524:S576Y;ENSP00000368965:S548Y;ENSP00000429029:S265Y;ENSP00000297798:S280Y	ENSP00000297798:S280Y	S	+	2	0	HGSNAT	43172169	1.000000	0.71417	0.819000	0.32651	0.713000	0.41058	3.006000	0.49529	0.812000	0.34326	-0.176000	0.13171	TCT		0.507	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
SPIDR	23514	broad.mit.edu	37	8	48206522	48206522	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:48206522T>C	ENST00000297423.4	+	5	812	c.428T>C	c.(427-429)tTt>tCt	p.F143S	SPIDR_ENST00000518074.1_Missense_Mutation_p.F83S|SPIDR_ENST00000541342.1_Missense_Mutation_p.F73S|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	143					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.F143S(1)									TGTGATGAATTTGAAGATGAC	0.403																																					p.F143S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T428C	8						.																																			48369075	SO:0001583	missense	23514	exon5			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.428T>C	8.37:g.48206522T>C	ENSP00000297423:p.Phe143Ser	Somatic		Capture	Illumina HiSeq	Phase_I	48369075	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	T	7.101	0.574182	0.13623	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000524033;ENST00000541342	.	.	.	4.09	-6.93	0.01638	.	1.609370	0.03444	N	0.209742	T	0.29389	0.0732	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.001;0.003	B;B;B;B	0.13407	0.007;0.009;0.004;0.009	T	0.12192	-1.0557	9	0.27082	T	0.32	.	1.785	0.03040	0.1366:0.2953:0.3493:0.2189	.	83;73;143;143	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	S	143;83;143;73	.	ENSP00000297423:F143S	F	+	2	0	KIAA0146	48369075	0.513000	0.26194	0.002000	0.10522	0.769000	0.43574	-0.134000	0.10436	-1.239000	0.02532	-0.484000	0.04775	TTT		0.403	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394	
PRKDC	5591	broad.mit.edu	37	8	48809737	48809737	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:48809737G>A	ENST00000314191.2	-	30	3638	c.3582C>T	c.(3580-3582)ttC>ttT	p.F1194F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F1194F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1194					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.F1194F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAAGGAACGAATTTATAAA	0.368								Non-homologous end-joining																													p.F1194F	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3582T	8						.						172.0	169.0	170.0					8																	48809737		1835	4080	5915	48972290	SO:0001819	synonymous_variant	5591	exon30				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3582C>T	8.37:g.48809737G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48972290	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																					0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
ATP6V1H	51606	broad.mit.edu	37	8	54684586	54684586	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:54684586G>T	ENST00000359530.2	-	10	1275	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	ATP6V1H_ENST00000355221.3_Missense_Mutation_p.L320I|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.L298I|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.L338I|ATP6V1H_ENST00000523899.1_5'Flank	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	338					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L320I(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTTTCCAAAAGAAATTTGATA	0.398																																					p.L338I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1012A	8						.						132.0	123.0	126.0					8																	54684586		2203	4300	6503	54847139	SO:0001583	missense	51606	exon10			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1012C>A	8.37:g.54684586G>T	ENSP00000352522:p.Leu338Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54847139	NM_015941	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848792	0.91277	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.62088	1.915	0.80722	D	1	P;P	0.45827	0.839;0.867	P;P	0.60415	0.801;0.874	T	0.76080	-0.3090	9	0.52906	T	0.07	-15.4533	19.3551	0.94408	0.0:0.0:1.0:0.0	.	320;338	Q9UI12-2;Q9UI12	.;VATH_HUMAN	I	320;298;338;338	.	ENSP00000347359:L320I	L	-	1	0	ATP6V1H	54847139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.639000	0.89480	0.609000	0.83330	CTT		0.398	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941	
RP1	6101	broad.mit.edu	37	8	55533670	55533670	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:55533670C>T	ENST00000220676.1	+	2	292	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	48	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.F48F(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCCCAATTCGGCGGGGTCA	0.552																																					p.F48F	Colon(91;1014 1389 7634 14542 40420)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|breast(1)	c.C144T	8						.						102.0	91.0	95.0					8																	55533670		2203	4300	6503	55696223	SO:0001819	synonymous_variant	6101	exon2			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.144C>T	8.37:g.55533670C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55696223	NM_006269		Silent	SNP	ENST00000220676.1	37	CCDS6160.1																																																																																				0.552	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55542255	55542255	+	Missense_Mutation	SNP	G	G	A	rs145801713	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:55542255G>A	ENST00000220676.1	+	4	5961	c.5813G>A	c.(5812-5814)cGc>cAc	p.R1938H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1938					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.R1938H(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGCATATCGCAAAGAATCT	0.358													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20280	0.0		0.0	False		,,,				2504	0.0				p.R1938H	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5813A	8						.	G	HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	65.0	66.0	65.0		5813	5.0	1.0	8	dbSNP_134	65	0,8600		0,0,4300	yes	missense	RP1	NM_006269.1	29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	1938/2157	55542255	6,13000	2203	4300	6503	55704808	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5813G>A	8.37:g.55542255G>A	ENSP00000220676:p.Arg1938His	Somatic		Capture	Illumina HiSeq	Phase_I	55704808	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237571	0.58886	0.001362	0.0	ENSG00000104237	ENST00000220676	T	0.24151	1.87	5.91	5.03	0.67393	.	0.273362	0.26467	N	0.024201	T	0.26955	0.0660	L	0.29908	0.895	0.30071	N	0.810036	D	0.76494	0.999	P	0.53689	0.732	T	0.06285	-1.0835	10	0.42905	T	0.14	.	9.0527	0.36385	0.1604:0.0:0.8396:0.0	.	1938	P56715	RP1_HUMAN	H	1938	ENSP00000220676:R1938H	ENSP00000220676:R1938H	R	+	2	0	RP1	55704808	0.733000	0.28132	0.985000	0.45067	0.850000	0.48378	1.236000	0.32683	2.802000	0.96397	0.655000	0.94253	CGC		0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
PLAG1	5324	broad.mit.edu	37	8	57079039	57079039	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:57079039A>C	ENST00000316981.3	-	5	1745	c.1266T>G	c.(1264-1266)ttT>ttG	p.F422L	PLAG1_ENST00000429357.2_Missense_Mutation_p.F422L|PLAG1_ENST00000423799.2_Missense_Mutation_p.F340L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	422	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F422L(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTATGAAATTAAACAACTGAG	0.458			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																p.F340L			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1020G	8						.						65.0	72.0	69.0					8																	57079039		2203	4300	6503	57241593	SO:0001583	missense	5324	exon3			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1266T>G	8.37:g.57079039A>C	ENSP00000325546:p.Phe422Leu	Somatic		Capture	Illumina HiSeq	Phase_I	57241593	NM_001114635	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	A	6.145	0.394951	0.11638	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.06142	3.34;4.04;3.34	5.9	0.89	0.19218	.	0.000000	0.85682	D	0.000000	T	0.03178	0.0093	N	0.19112	0.55	0.49389	D	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.44498	-0.9324	10	0.02654	T	1	-15.5997	8.7387	0.34545	0.3566:0.0:0.6434:0.0	.	422	Q6DJT9	PLAG1_HUMAN	L	422;340;422	ENSP00000325546:F422L;ENSP00000404067:F340L;ENSP00000416537:F422L	ENSP00000325546:F422L	F	-	3	2	PLAG1	57241593	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	0.393000	0.20817	0.152000	0.19188	0.460000	0.39030	TTT		0.458	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
PLAG1	5324	broad.mit.edu	37	8	57079640	57079640	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:57079640A>C	ENST00000316981.3	-	5	1144	c.665T>G	c.(664-666)tTt>tGt	p.F222C	PLAG1_ENST00000429357.2_Missense_Mutation_p.F222C|PLAG1_ENST00000423799.2_Missense_Mutation_p.F140C	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	222	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F222C(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTTCGCCCAAATCTCTGTGC	0.478			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																p.F140C			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T419G	8						.						118.0	108.0	111.0					8																	57079640		2203	4300	6503	57242194	SO:0001583	missense	5324	exon3			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.665T>G	8.37:g.57079640A>C	ENSP00000325546:p.Phe222Cys	Somatic		Capture	Illumina HiSeq	Phase_I	57242194	NM_001114635	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566525	0.45694	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.45668	0.89;0.89;0.89	5.66	4.5	0.54988	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.70124	-0.4958	10	0.87932	D	0	-20.5541	11.6176	0.51098	0.9304:0.0:0.0696:0.0	.	222	Q6DJT9	PLAG1_HUMAN	C	222;140;222	ENSP00000325546:F222C;ENSP00000404067:F140C;ENSP00000416537:F222C	ENSP00000325546:F222C	F	-	2	0	PLAG1	57242194	1.000000	0.71417	0.743000	0.31040	0.986000	0.74619	9.339000	0.96797	0.965000	0.38133	0.477000	0.44152	TTT		0.478	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
SDR16C5	195814	broad.mit.edu	37	8	57228902	57228902	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:57228902G>T	ENST00000303749.3	-	2	642	c.5C>A	c.(4-6)tCt>tAt	p.S2Y	SDR16C5_ENST00000522671.1_Missense_Mutation_p.S2Y|SDR16C5_ENST00000396721.2_Missense_Mutation_p.S2Y	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	2					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.S2Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAGGTTGAAAGACATGTTCTG	0.408																																					p.S2Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5A	8						.						44.0	44.0	44.0					8																	57228902		2203	4300	6503	57391456	SO:0001583	missense	195814	exon2				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.5C>A	8.37:g.57228902G>T	ENSP00000307607:p.Ser2Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	57391456	NM_138969	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059006	0.36373	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	T;D;D	0.82893	-1.34;-1.58;-1.66	5.25	2.41	0.29592	.	.	.	.	.	T	0.72036	0.3411	L	0.29908	0.895	0.09310	N	1	B;D;P	0.54964	0.279;0.969;0.906	B;B;P	0.44732	0.116;0.438;0.459	T	0.61173	-0.7116	9	0.37606	T	0.19	.	3.988	0.09524	0.2307:0.0:0.4844:0.2849	.	2;2;2	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	Y	2	ENSP00000379947:S2Y;ENSP00000307607:S2Y;ENSP00000431010:S2Y	ENSP00000307607:S2Y	S	-	2	0	SDR16C5	57391456	0.992000	0.36948	0.496000	0.27539	0.684000	0.39900	1.716000	0.37981	0.599000	0.29845	0.563000	0.77884	TCT		0.408	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969	
FAM110B	90362	broad.mit.edu	37	8	59059392	59059392	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:59059392G>A	ENST00000361488.3	+	5	1483	c.603G>A	c.(601-603)tcG>tcA	p.S201S	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	201						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S201S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ACAGCTCTTCGGACATCCGCA	0.672																																					p.S201S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G603A	8						.						65.0	61.0	62.0					8																	59059392		2203	4300	6503	59221946	SO:0001819	synonymous_variant	90362	exon5			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.603G>A	8.37:g.59059392G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59221946	NM_147189	Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	CCDS6170.1																																																																																				0.672	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189	
TOX	9760	broad.mit.edu	37	8	59728228	59728228	+	Missense_Mutation	SNP	G	G	A	rs200969018		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:59728228G>A	ENST00000361421.1	-	7	1281	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	354						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S354L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CGACGGCTTCGAATTGATCAG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19025	0.0		0.0	False		,,,				2504	0.0				p.S354L	Pancreas(161;610 1969 17913 21374 22725)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1061T	8						.	G	LEU/SER	0,4406		0,0,2203	98.0	100.0	99.0		1061	6.1	0.4	8		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOX	NM_014729.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	354/527	59728228	1,13005	2203	4300	6503	59890782	SO:0001583	missense	9760	exon7				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1061C>T	8.37:g.59728228G>A	ENSP00000354842:p.Ser354Leu	Somatic		Capture	Illumina HiSeq	Phase_I	59890782	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.50	3.636516	0.67130	0.0	1.16E-4	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.12774	2.65	6.07	6.07	0.98685	.	0.513748	0.20650	N	0.088227	T	0.08714	0.0216	N	0.08118	0	0.58432	D	0.99999	B	0.27971	0.196	B	0.17098	0.017	T	0.40794	-0.9544	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	354	O94900	TOX_HUMAN	L	354;112	ENSP00000354842:S354L	.	S	-	2	0	TOX	59890782	1.000000	0.71417	0.439000	0.26833	0.692000	0.40212	8.822000	0.92013	2.884000	0.98904	0.655000	0.94253	TCG		0.522	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
TOX	9760	broad.mit.edu	37	8	59764361	59764361	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:59764361G>A	ENST00000361421.1	-	4	635	c.415C>T	c.(415-417)Cca>Tca	p.P139S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	139						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P139S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CGTATATCTGGCATCTACaat	0.363																																					p.P139S	Pancreas(161;610 1969 17913 21374 22725)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C415T	8						.						59.0	52.0	54.0					8																	59764361		2203	4300	6503	59926915	SO:0001583	missense	9760	exon4				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.415C>T	8.37:g.59764361G>A	ENSP00000354842:p.Pro139Ser	Somatic		Capture	Illumina HiSeq	Phase_I	59926915	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527618	0.44969	.	.	ENSG00000198846	ENST00000361421	T	0.11063	2.81	5.78	5.78	0.91487	.	0.399368	0.28290	N	0.015894	T	0.07324	0.0185	N	0.08118	0	0.39946	D	0.974475	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	9	.	.	.	.	20.0846	0.97795	0.0:0.0:1.0:0.0	.	139	O94900	TOX_HUMAN	S	139	ENSP00000354842:P139S	.	P	-	1	0	TOX	59926915	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	8.145000	0.89625	2.750000	0.94351	0.549000	0.68633	CCA		0.363	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CHD7	55636	broad.mit.edu	37	8	61742893	61742893	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:61742893C>A	ENST00000423902.2	+	15	4014	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1179					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q1179K(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCAAAAACTTCAAGCTATTCT	0.333																																					p.Q1179K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3535A	8	GRCh37	CM074742	CHD7	M		.						46.0	46.0	46.0					8																	61742893		1818	4078	5896	61905447	SO:0001583	missense	55636	exon15			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3535C>A	8.37:g.61742893C>A	ENSP00000392028:p.Gln1179Lys	Somatic		Capture	Illumina HiSeq	Phase_I	61905447	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768035	0.90020	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.93133	-3.17	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.92512	0.7622	N	0.21142	0.635	0.80722	D	1	P	0.41498	0.752	P	0.49953	0.627	D	0.93299	0.6675	10	0.87932	D	0	-18.172	19.6762	0.95934	0.0:1.0:0.0:0.0	.	1179	Q9P2D1	CHD7_HUMAN	K	1179	ENSP00000392028:Q1179K	ENSP00000307304:Q1179K	Q	+	1	0	CHD7	61905447	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.729000	0.93468	0.591000	0.81541	CAA		0.333	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
YTHDF3	253943	broad.mit.edu	37	8	64100030	64100030	+	Silent	SNP	G	G	A	rs199904797		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:64100030G>A	ENST00000539294.1	+	4	1774	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	YTHDF3_ENST00000542911.2_Silent_p.A297A|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	487	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTATAATGCGTATGCTGGTG	0.428																																					p.R487H												.	.	0			c.G1460A	8						.						180.0	171.0	174.0					8																	64100030		1988	4182	6170	64262584	SO:0001819	synonymous_variant	253943	exon4			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1458G>A	8.37:g.64100030G>A		Somatic		Capture	Illumina HiSeq	Phase_I	64262584	NM_152758	B3KXL4|Q63Z37|Q659A3	Silent	SNP	ENST00000539294.1	37																																																																																					0.428	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758	
MIR124-2HG	100130155	broad.mit.edu	37	8	65291774	65291774	+	lincRNA	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:65291774C>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							AATTAAGGCACGCGGTGAATG	0.498																																					.												.	.	0			.	8						.						62.0	61.0	61.0					8																	65291774		1568	3582	5150	65454328			406908	.																															8.37:g.65291774C>T		Somatic		Capture	Illumina HiSeq	Phase_I	65454328	.		RNA	SNP	ENST00000521441.1	37																																																																																					0.498	LINC00966-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378434.1		
ADHFE1	137872	broad.mit.edu	37	8	67372616	67372616	+	Silent	SNP	C	C	T	rs369719961		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:67372616C>T	ENST00000396623.3	+	13	1267	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Silent_p.F364F|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	412					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.F364F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AATTCTTATTCGATCTGGATG	0.537											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F412F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1236T	8						.						108.0	105.0	106.0					8																	67372616		2203	4300	6503	67535170	SO:0001819	synonymous_variant	137872	exon13			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1236C>T	8.37:g.67372616C>T		Somatic	1099	Capture	Illumina HiSeq	Phase_I	67535170	NM_144650	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Silent	SNP	ENST00000396623.3	37	CCDS6190.2																																																																																				0.537	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
MCMDC2	157777	broad.mit.edu	37	8	67791089	67791089	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:67791089G>A	ENST00000422365.2	+	7	815	c.644G>A	c.(643-645)cGt>cAt	p.R215H	MCMDC2_ENST00000541540.1_Missense_Mutation_p.R152H|MCMDC2_ENST00000396592.3_Missense_Mutation_p.R215H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.R215H|MCMDC2_ENST00000492775.1_Missense_Mutation_p.R215H	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	215					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R210H(1)		endometrium(2)|kidney(2)|lung(5)	9						AAGGCACTTCGTGCTTTTCAA	0.274																																					p.R215H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	8						.						38.0	41.0	40.0					8																	67791089		2203	4299	6502	67953643	SO:0001583	missense	157777	exon7			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.644G>A	8.37:g.67791089G>A	ENSP00000413632:p.Arg215His	Somatic		Capture	Illumina HiSeq	Phase_I	67953643	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750264	0.15778	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.66	-2.77	0.05877	.	0.774096	0.12929	N	0.427522	T	0.08313	0.0207	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33059	-0.9883	10	0.39692	T	0.17	0.4614	9.1128	0.36739	0.5819:0.1296:0.2885:0.0	.	152;215;215;215	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	H	87;215;215;215;215;152	ENSP00000379837:R215H;ENSP00000413632:R215H;ENSP00000428037:R215H;ENSP00000317234:R215H;ENSP00000445629:R152H	ENSP00000317234:R215H	R	+	2	0	C8orf45	67953643	0.118000	0.22208	0.241000	0.24154	0.496000	0.33645	0.088000	0.14979	-0.403000	0.07622	-0.383000	0.06682	CGT		0.274	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518	
CSPP1	79848	broad.mit.edu	37	8	68024218	68024218	+	Nonsense_Mutation	SNP	C	C	T	rs374703898		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:68024218C>T	ENST00000262210.5	+	9	1163	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	CSPP1_ENST00000412460.1_Nonsense_Mutation_p.R84*	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	413					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.R378*(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGTGAAGATCGAGAACTTAT	0.358																																					p.R378X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1132T	8						.						124.0	120.0	121.0					8																	68024218		1849	4094	5943	68186772	SO:0001587	stop_gained	79848	exon9			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1132C>T	8.37:g.68024218C>T	ENSP00000262210:p.Arg378*	Somatic		Capture	Illumina HiSeq	Phase_I	68186772	NM_024790	A6ND63|Q70F00|Q8TBC1	Nonsense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	45	11.751742	0.99599	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.35	1.2	0.21068	.	0.159439	0.27473	N	0.019212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4021	15.596	0.76583	0.7352:0.2648:0.0:0.0	.	.	.	.	X	378;413;84;84	.	ENSP00000262210:R378X	R	+	1	2	CSPP1	68186772	0.961000	0.32948	0.996000	0.52242	0.968000	0.65278	-0.060000	0.11712	-0.068000	0.12953	-0.500000	0.04577	CGA		0.358	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
CSPP1	79848	broad.mit.edu	37	8	68066342	68066342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:68066342G>T	ENST00000262210.5	+	17	2228	c.2197G>T	c.(2197-2199)Gaa>Taa	p.E733*	CSPP1_ENST00000412460.1_Nonsense_Mutation_p.E388*	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	768					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E733*(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAAACAGCAAGAATTATACAA	0.338																																					p.E733X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2197T	8						.						97.0	93.0	94.0					8																	68066342		1812	4078	5890	68228896	SO:0001587	stop_gained	79848	exon17			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2197G>T	8.37:g.68066342G>T	ENSP00000262210:p.Glu733*	Somatic		Capture	Illumina HiSeq	Phase_I	68228896	NM_024790	A6ND63|Q70F00|Q8TBC1	Nonsense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	47	12.980753	0.99711	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-24.2478	19.9508	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	X	733;768;388;388	.	ENSP00000262210:E733X	E	+	1	0	CSPP1	68228896	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.593000	0.74100	2.890000	0.99128	0.585000	0.79938	GAA		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
ARFGEF1	10565	broad.mit.edu	37	8	68178257	68178257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:68178257C>A	ENST00000262215.3	-	14	2496	c.2107G>T	c.(2107-2109)Gaa>Taa	p.E703*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.E157*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	703					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.E703*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATCCCTTGTTCTATTATTTCT	0.398																																					p.E703X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2107T	8						.						121.0	112.0	115.0					8																	68178257		2202	4300	6502	68340811	SO:0001587	stop_gained	10565	exon14			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2107G>T	8.37:g.68178257C>A	ENSP00000262215:p.Glu703*	Somatic		Capture	Illumina HiSeq	Phase_I	68340811	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	44	11.178266	0.99527	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3684	0.94473	0.0:1.0:0.0:0.0	.	.	.	.	X	157;703	.	ENSP00000262215:E703X	E	-	1	0	ARFGEF1	68340811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.743000	0.85020	2.591000	0.87537	0.585000	0.79938	GAA		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
SLCO5A1	81796	broad.mit.edu	37	8	70744643	70744643	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:70744643G>A	ENST00000260126.4	-	2	972	c.266C>T	c.(265-267)tCg>tTg	p.S89L	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S89L|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S89L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S89L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGCCCCGCCGAAGTGGACGG	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S89L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C266T	8						.						46.0	50.0	49.0					8																	70744643		2203	4300	6503	70907197	SO:0001583	missense	81796	exon2			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.266C>T	8.37:g.70744643G>A	ENSP00000260126:p.Ser89Leu	Somatic	1124	Capture	Illumina HiSeq	Phase_I	70907197	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461545	0.84317	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.45668	1.04;1.41;0.89	5.61	4.73	0.59995	.	2.055120	0.01776	N	0.031489	T	0.55401	0.1918	L	0.29908	0.895	0.41248	D	0.986694	B;D;B;D	0.76494	0.014;0.999;0.297;0.987	B;D;B;P	0.72625	0.003;0.978;0.015;0.56	T	0.48091	-0.9065	10	0.45353	T	0.12	.	9.4526	0.38736	0.0942:0.0:0.9058:0.0	.	89;89;89;89	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	L	89	ENSP00000260126:S89L;ENSP00000434422:S89L;ENSP00000431611:S89L	ENSP00000260126:S89L	S	-	2	0	SLCO5A1	70907197	0.808000	0.29022	0.998000	0.56505	0.828000	0.46876	1.327000	0.33746	2.652000	0.90054	0.484000	0.47621	TCG		0.642	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
NCOA2	10499	broad.mit.edu	37	8	71039212	71039212	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:71039212T>C	ENST00000452400.2	-	19	3933	c.3752A>G	c.(3751-3753)cAa>cGa	p.Q1251R	NCOA2_ENST00000267974.4_Missense_Mutation_p.Q339R	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1251					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q1251R(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGATGCATTTGTCTCTGTCG	0.488			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.Q1251R			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3752G	8						.						141.0	126.0	131.0					8																	71039212		1984	4171	6155	71201766	SO:0001583	missense	10499	exon19			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3752A>G	8.37:g.71039212T>C	ENSP00000399968:p.Gln1251Arg	Somatic		Capture	Illumina HiSeq	Phase_I	71201766	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.03|12.03	1.816272|1.816272	0.32145|0.32145	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.07908	.|4.68;3.15	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.119832	.|0.64402	.|D	.|0.000020	T|T	0.16471|0.16471	0.0396|0.0396	L|L	0.33189|0.33189	0.99|0.99	0.53005|0.53005	D|D	0.999968|0.999968	.|D;D	.|0.76494	.|0.999;0.994	.|D;D	.|0.85130	.|0.997;0.979	T|T	0.03130|0.03130	-1.1069|-1.1069	5|10	.|0.02654	.|T	.|1	.|.	16.4608|16.4608	0.84044|0.84044	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|339;1251	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	E|R	352|1251;339	.|ENSP00000399968:Q1251R;ENSP00000267974:Q339R	.|ENSP00000267974:Q339R	K|Q	-|-	1|2	0|0	NCOA2|NCOA2	71201766|71201766	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.912000|0.912000	0.54170|0.54170	7.484000|7.484000	0.81180|0.81180	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.488	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
TRPA1	8989	broad.mit.edu	37	8	72948568	72948568	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:72948568A>C	ENST00000262209.4	-	21	2717	c.2510T>G	c.(2509-2511)aTt>aGt	p.I837S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	837					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.I837S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTAAACAGCAATTGCTCCACA	0.353																																					p.I837S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2510G	8						.						65.0	65.0	65.0					8																	72948568		2203	4300	6503	73111122	SO:0001583	missense	8989	exon21			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2510T>G	8.37:g.72948568A>C	ENSP00000262209:p.Ile837Ser	Somatic		Capture	Illumina HiSeq	Phase_I	73111122	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675060	0.29783	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.36340	1.26;1.26	4.71	4.71	0.59529	Ion transport (1);	0.443822	0.27143	N	0.020736	T	0.46190	0.1380	M	0.85859	2.78	0.43536	D	0.995829	P	0.39920	0.695	B	0.42087	0.375	T	0.54768	-0.8244	10	0.87932	D	0	-6.5201	9.8443	0.41017	0.9183:0.0:0.0817:0.0	.	837	O75762	TRPA1_HUMAN	S	689;837	ENSP00000428151:I689S;ENSP00000262209:I837S	ENSP00000262209:I837S	I	-	2	0	TRPA1	73111122	1.000000	0.71417	0.675000	0.29917	0.430000	0.31655	5.133000	0.64764	1.872000	0.54250	0.482000	0.46254	ATT		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72984052	72984052	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:72984052C>A	ENST00000262209.4	-	2	369	c.162G>T	c.(160-162)aaG>aaT	p.K54N		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	54					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.K54N(2)|p.K54K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTTTAATTTCTTTTGCTTAT	0.353																																					p.K54N												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.G162T	8						.						131.0	117.0	121.0					8																	72984052		2203	4300	6503	73146606	SO:0001583	missense	8989	exon2			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.162G>T	8.37:g.72984052C>A	ENSP00000262209:p.Lys54Asn	Somatic		Capture	Illumina HiSeq	Phase_I	73146606	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	3.640	-0.073760	0.07184	.	.	ENSG00000104321	ENST00000262209	T	0.39406	1.08	5.08	-5.05	0.02955	.	0.706131	0.13537	N	0.380516	T	0.20820	0.0501	L	0.38531	1.155	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.18085	-1.0348	10	0.22109	T	0.4	-4.2979	1.1527	0.01789	0.1479:0.2877:0.246:0.3184	.	54	O75762	TRPA1_HUMAN	N	54	ENSP00000262209:K54N	ENSP00000262209:K54N	K	-	3	2	TRPA1	73146606	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.652000	0.05366	-0.581000	0.05937	0.563000	0.77884	AAG		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
JPH1	56704	broad.mit.edu	37	8	75227149	75227149	+	Silent	SNP	G	G	A	rs145504057		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:75227149G>A	ENST00000342232.4	-	2	1126	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	362	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G362G(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCCTTTGGGCGCCTTCAATTG	0.433																																					p.G362G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1086T	8						.	G		3,4403	6.2+/-15.9	0,3,2200	106.0	114.0	111.0		1086	-1.8	1.0	8	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	JPH1	NM_020647.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		362/662	75227149	3,13003	2203	4300	6503	75389704	SO:0001819	synonymous_variant	56704	exon2			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1086C>T	8.37:g.75227149G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75389704	NM_020647	B2RTZ0	Silent	SNP	ENST00000342232.4	37	CCDS6217.1																																																																																				0.433	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
PI15	51050	broad.mit.edu	37	8	75737636	75737636	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:75737636C>T	ENST00000260113.2	+	2	331	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.A51V	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	51						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.A51V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTAGATTCAGCGGATATCCCC	0.468																																					p.A51V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C152T	8						.						101.0	93.0	95.0					8																	75737636		2203	4300	6503	75900191	SO:0001583	missense	51050	exon2			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.152C>T	8.37:g.75737636C>T	ENSP00000260113:p.Ala51Val	Somatic		Capture	Illumina HiSeq	Phase_I	75900191	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678959	0.29783	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09723	2.95;2.95	5.35	3.54	0.40534	CAP domain (1);	0.493618	0.22667	N	0.057111	T	0.06690	0.0171	N	0.14661	0.345	0.47009	D	0.999284	B	0.09022	0.002	B	0.04013	0.001	T	0.30416	-0.9979	10	0.22706	T	0.39	.	12.2372	0.54522	0.0:0.8614:0.0:0.1386	.	51	O43692	PI15_HUMAN	V	51	ENSP00000260113:A51V;ENSP00000428567:A51V	ENSP00000260113:A51V	A	+	2	0	PI15	75900191	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.516000	0.35856	0.923000	0.37045	0.655000	0.94253	GCG		0.468	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
ZFHX4	79776	broad.mit.edu	37	8	77617034	77617034	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:77617034G>T	ENST00000521891.2	+	2	1159	c.711G>T	c.(709-711)gaG>gaT	p.E237D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E237D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E237D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E237D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E237D(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAAGAGAGAGAAAGACTATC	0.463										HNSCC(33;0.089)																											p.E237D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G711T	8						.						128.0	120.0	123.0					8																	77617034		2060	4214	6274	77779589	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.711G>T	8.37:g.77617034G>T	ENSP00000430497:p.Glu237Asp	Somatic		Capture	Illumina HiSeq	Phase_I	77779589	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	8.988	0.977045	0.18812	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.45276	0.9;0.95;0.92;0.91	5.42	4.49	0.54785	.	0.154833	0.29486	U	0.012015	T	0.15652	0.0377	N	0.01705	-0.755	0.36313	D	0.857772	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.20042	-1.0287	10	0.08179	T	0.78	.	11.4082	0.49911	0.0:0.0:0.6568:0.3432	.	237;237;237;237	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	237	ENSP00000430497:E237D;ENSP00000399605:E237D;ENSP00000050961:E237D;ENSP00000430848:E237D	ENSP00000050961:E237D	E	+	3	2	ZFHX4	77779589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.892000	0.39748	2.821000	0.97095	0.650000	0.86243	GAG		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77617311	77617311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:77617311G>T	ENST00000521891.2	+	2	1436	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E330*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E330*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E330*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E330*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAGACAAAGAACCTCTTAT	0.448										HNSCC(33;0.089)																											p.E330X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G988T	8						.						118.0	112.0	114.0					8																	77617311		1835	4093	5928	77779866	SO:0001587	stop_gained	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.988G>T	8.37:g.77617311G>T	ENSP00000430497:p.Glu330*	Somatic		Capture	Illumina HiSeq	Phase_I	77779866	NM_024721	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573882	0.86542	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.53	5.53	0.82687	.	0.000000	0.45867	U	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	.	.	.	X	330	.	ENSP00000050961:E330X	E	+	1	0	ZFHX4	77779866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.882000	0.98803	0.655000	0.94253	GAA		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77690641	77690641	+	Silent	SNP	C	C	T	rs375999260		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:77690641C>T	ENST00000521891.2	+	4	3739	c.3291C>T	c.(3289-3291)atC>atT	p.I1097I	ZFHX4_ENST00000455469.2_Silent_p.I1071I|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Silent_p.I1071I|ZFHX4_ENST00000518282.1_Silent_p.I1071I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1071					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I1097I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGTGAGATCTTTTTTGTTA	0.532										HNSCC(33;0.089)																											p.I1097I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3291T	8						.	C		0,3988		0,0,1994	113.0	122.0	119.0		3291	2.4	1.0	8		119	1,8335		0,1,4167	no	coding-synonymous	ZFHX4	NM_024721.4		0,1,6161	TT,TC,CC		0.012,0.0,0.0081		1097/3617	77690641	1,12323	1994	4168	6162	77853196	SO:0001819	synonymous_variant	79776	exon4				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3291C>T	8.37:g.77690641C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77853196	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77765038	77765038	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:77765038T>C	ENST00000521891.2	+	10	6329	c.5881T>C	c.(5881-5883)Tta>Cta	p.L1961L	ZFHX4_ENST00000455469.2_Silent_p.L1916L|ZFHX4_ENST00000050961.6_Silent_p.L1916L|ZFHX4_ENST00000518282.1_Silent_p.L1935L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1916	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L1961L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTCTTATTTTAAAGAGTCA	0.403										HNSCC(33;0.089)																											p.L1961L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5881C	8						.						72.0	70.0	70.0					8																	77765038		1899	4120	6019	77927593	SO:0001819	synonymous_variant	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5881T>C	8.37:g.77765038T>C		Somatic		Capture	Illumina HiSeq	Phase_I	77927593	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77766617	77766617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:77766617C>T	ENST00000521891.2	+	10	7908	c.7460C>T	c.(7459-7461)cCt>cTt	p.P2487L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2442L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2442L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2461L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P2471L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGTCTACCTCCACAGTTA	0.502										HNSCC(33;0.089)																											p.P2487L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7460T	8						.						139.0	161.0	154.0					8																	77766617		2052	4191	6243	77929172	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7460C>T	8.37:g.77766617C>T	ENSP00000430497:p.Pro2487Leu	Somatic		Capture	Illumina HiSeq	Phase_I	77929172	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281498	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51817	0.69;0.75;0.71;0.71	5.18	5.18	0.71444	.	0.000000	0.44285	U	0.000473	T	0.67571	0.2907	M	0.68952	2.095	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.69307	0.92;0.963;0.963	T	0.68957	-0.5272	10	0.59425	D	0.04	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	2442;2442;2487	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	2487;2471;2442;2442;2461	ENSP00000430497:P2487L;ENSP00000399605:P2442L;ENSP00000050961:P2442L;ENSP00000430848:P2461L	ENSP00000050961:P2442L	P	+	2	0	ZFHX4	77929172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.645000	0.83430	2.685000	0.91497	0.650000	0.86243	CCT		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
PEX2	5828	broad.mit.edu	37	8	77895524	77895524	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:77895524G>A	ENST00000419564.2	-	4	1355	c.891C>T	c.(889-891)atC>atT	p.I297I	PEX2_ENST00000357039.4_Silent_p.I297I|PEX2_ENST00000520103.1_Silent_p.I297I|PEX2_ENST00000522527.1_Silent_p.I297I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	297					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.I297I(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CTGACATCTCGATTCCTGATT	0.353																																					p.I297I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891T	8						.						100.0	103.0	102.0					8																	77895524		2203	4300	6503	78058079	SO:0001819	synonymous_variant	5828	exon4			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.891C>T	8.37:g.77895524G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78058079	NM_000318	Q567S6|Q9BW41	Silent	SNP	ENST00000419564.2	37	CCDS6221.1																																																																																				0.353	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318	
ZC2HC1A	51101	broad.mit.edu	37	8	79601519	79601519	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:79601519A>C	ENST00000263849.4	+	5	517	c.415A>C	c.(415-417)Aat>Cat	p.N139H	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	139							metal ion binding (GO:0046872)	p.N139H(1)									TAGACATATAAATTTCTGTAA	0.338																																					p.N139H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A415C	8						.						65.0	67.0	66.0					8																	79601519		2203	4298	6501	79764074	SO:0001583	missense	51101	exon5				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.415A>C	8.37:g.79601519A>C	ENSP00000263849:p.Asn139His	Somatic		Capture	Illumina HiSeq	Phase_I	79764074	NM_016010	Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923063	0.73213	.	.	ENSG00000104427	ENST00000263849	T	0.42513	0.97	5.06	5.06	0.68205	.	0.044508	0.85682	D	0.000000	T	0.62295	0.2416	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.63989	-0.6512	9	.	.	.	-20.8762	14.8005	0.69913	1.0:0.0:0.0:0.0	.	139	Q96GY0	F164A_HUMAN	H	139	ENSP00000263849:N139H	.	N	+	1	0	FAM164A	79764074	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.881000	0.75584	1.910000	0.55303	0.260000	0.18958	AAT		0.338	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010	
SNX16	64089	broad.mit.edu	37	8	82727585	82727585	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:82727585G>T	ENST00000345957.4	-	5	934	c.656C>A	c.(655-657)cCa>cAa	p.P219Q	RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000353788.4_Missense_Mutation_p.P190Q|SNX16_ENST00000396330.2_Missense_Mutation_p.P219Q	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	219					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.P219Q(1)		large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GCTATCAAATGGACCCGGTGG	0.353																																					p.P190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569A	8						.						104.0	93.0	96.0					8																	82727585		2203	4300	6503	82890140	SO:0001583	missense	64089	exon4			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.656C>A	8.37:g.82727585G>T	ENSP00000322652:p.Pro219Gln	Somatic		Capture	Illumina HiSeq	Phase_I	82890140	NM_152837	A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299846	0.81136	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957	T;T;T	0.60040	0.22;0.22;0.22	5.76	5.76	0.90799	Phox homologous domain (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73059	-0.4102	10	0.28530	T	0.3	-0.5499	19.9664	0.97271	0.0:0.0:1.0:0.0	.	190;219	Q658L0;P57768	.;SNX16_HUMAN	Q	190;219;219	ENSP00000322631:P190Q;ENSP00000379621:P219Q;ENSP00000322652:P219Q	ENSP00000322652:P219Q	P	-	2	0	SNX16	82890140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.070000	0.93974	2.724000	0.93272	0.650000	0.86243	CCA		0.353	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133	
ATP6V0D2	245972	broad.mit.edu	37	8	87111319	87111319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:87111319C>T	ENST00000285393.3	+	1	254	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	38					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)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.Q38*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CAACCTGGTCCAGTGTGAGAC	0.473																																					p.Q38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C112T	8						.						98.0	76.0	83.0					8																	87111319		2203	4300	6503	87180435	SO:0001587	stop_gained	245972	exon1			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.112C>T	8.37:g.87111319C>T	ENSP00000285393:p.Gln38*	Somatic		Capture	Illumina HiSeq	Phase_I	87180435	NM_152565		Nonsense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045061	0.93685	.	.	ENSG00000147614	ENST00000523635;ENST00000285393	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.1006	16.6981	0.85341	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000285393:Q38X	Q	+	1	0	ATP6V0D2	87180435	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.220000	0.78008	2.524000	0.85096	0.591000	0.81541	CAG		0.473	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
RMDN1	51115	broad.mit.edu	37	8	87500863	87500863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:87500863C>A	ENST00000406452.3	-	3	412	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Nonsense_Mutation_p.E85*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.E41*|RMDN1_ENST00000430676.2_Nonsense_Mutation_p.E85*	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	85						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.E85*(1)									TCAAGTATTTCTTCAACTTCA	0.313																																					p.E85X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G253T	8						.						133.0	133.0	133.0					8																	87500863		2203	4299	6502	87569979	SO:0001587	stop_gained	51115	exon3			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.253G>T	8.37:g.87500863C>A	ENSP00000385927:p.Glu85*	Somatic		Capture	Illumina HiSeq	Phase_I	87569979	NM_016033	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Nonsense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.458804|6.458804	0.97585|0.97585	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045|ENST00000519789	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.101468|.	0.64402|.	D|.	0.000003|.	.|T	.|0.76579	.|0.4007	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74500	.|-0.3645	.|4	0.28530|.	T|.	0.3|.	-15.3822|-15.3822	19.8093|19.8093	0.96541|0.96541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	85;41;85;85;41|30	.|.	ENSP00000385927:E85X|.	E|R	-|-	1|2	0|0	FAM82B|FAM82B	87569979|87569979	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	6.865000|6.865000	0.75500|0.75500	2.688000|2.688000	0.91661|0.91661	0.460000|0.460000	0.39030|0.39030	GAA|AGA		0.313	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	
CNGB3	54714	broad.mit.edu	37	8	87641172	87641172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:87641172A>C	ENST00000320005.5	-	12	1502	c.1455T>G	c.(1453-1455)taT>taG	p.Y485*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	485					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y485*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTCCCATGTATATTCATACC	0.413																																					p.Y485X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1455G	8						.						203.0	190.0	194.0					8																	87641172		2203	4300	6503	87710288	SO:0001587	stop_gained	54714	exon12			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1455T>G	8.37:g.87641172A>C	ENSP00000316605:p.Tyr485*	Somatic		Capture	Illumina HiSeq	Phase_I	87710288	NM_019098	C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	37	6.070718	0.97256	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.92	-6.16	0.02098	.	0.134884	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0919	0.93229	0.3481:0.0:0.6519:0.0	.	.	.	.	X	485	.	ENSP00000316605:Y485X	Y	-	3	2	CNGB3	87710288	1.000000	0.71417	0.642000	0.29436	0.972000	0.66771	0.868000	0.27982	-1.052000	0.03222	-0.451000	0.05528	TAT		0.413	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CNGB3	54714	broad.mit.edu	37	8	87679219	87679219	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:87679219G>A	ENST00000320005.5	-	6	833	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	262					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.I262I(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAGGTAGATGATATCACATA	0.428																																					p.I262I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786T	8						.						122.0	109.0	114.0					8																	87679219		2203	4300	6503	87748335	SO:0001819	synonymous_variant	54714	exon6			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.786C>T	8.37:g.87679219G>A		Somatic		Capture	Illumina HiSeq	Phase_I	87748335	NM_019098	C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	CCDS6244.1																																																																																				0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
DCAF4L2	138009	broad.mit.edu	37	8	88885982	88885982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:88885982C>T	ENST00000319675.3	-	1	314	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	73								p.R73Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCGGTTAAATCGGTCGCTTGC	0.532																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	8						.						146.0	135.0	138.0					8																	88885982		2203	4300	6503	88955098	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.218G>A	8.37:g.88885982C>T	ENSP00000316496:p.Arg73Gln	Somatic		Capture	Illumina HiSeq	Phase_I	88955098	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705294	0.30232	.	.	ENSG00000176566	ENST00000319675	T	0.70399	-0.48	1.92	-2.31	0.06765	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.409038	0.27473	N	0.019212	T	0.57873	0.2083	L	0.60455	1.87	0.09310	N	1	B	0.17465	0.022	B	0.12156	0.007	T	0.47761	-0.9092	10	0.49607	T	0.09	.	5.2529	0.15532	0.0:0.326:0.0:0.674	.	73	Q8NA75	DC4L2_HUMAN	Q	73	ENSP00000316496:R73Q	ENSP00000316496:R73Q	R	-	2	0	DCAF4L2	88955098	0.999000	0.42202	0.004000	0.12327	0.021000	0.10359	1.057000	0.30492	-0.623000	0.05618	-0.373000	0.07131	CGA		0.532	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
TMEM55A	55529	broad.mit.edu	37	8	92008946	92008946	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:92008946C>T	ENST00000285419.3	-	6	880	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	189						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R189Q(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GCAGCGTCTTCGTGGAAGTGC	0.358																																					p.R189Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G566A	8						.						69.0	61.0	64.0					8																	92008946		2203	4300	6503	92078122	SO:0001583	missense	55529	exon6			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.566G>A	8.37:g.92008946C>T	ENSP00000285419:p.Arg189Gln	Somatic		Capture	Illumina HiSeq	Phase_I	92078122	NM_018710	B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	36	5.896146	0.97081	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.75639	-0.3248	9	0.62326	D	0.03	-21.4811	20.4008	0.98991	0.0:1.0:0.0:0.0	.	189	Q8N4L2	TM55A_HUMAN	Q	189;195	.	ENSP00000285419:R189Q	R	-	2	0	TMEM55A	92078122	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	CGA		0.358	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	
PDP1	54704	broad.mit.edu	37	8	94934764	94934764	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:94934764C>A	ENST00000297598.4	+	2	746	c.477C>A	c.(475-477)ctC>ctA	p.L159L	PDP1_ENST00000396200.3_Silent_p.L184L|PDP1_ENST00000520728.1_Silent_p.L159L|PDP1_ENST00000517764.1_Silent_p.L159L	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	159					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.L159L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GTGAAAGACTCTTTTATTATA	0.502																																					p.L184L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552A	8						.						42.0	43.0	43.0					8																	94934764		2203	4300	6503	95003940	SO:0001819	synonymous_variant	54704	exon3			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.477C>A	8.37:g.94934764C>A		Somatic		Capture	Illumina HiSeq	Phase_I	95003940	NM_001161779	B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	CCDS6259.1																																																																																				0.502	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444	
GEM	2669	broad.mit.edu	37	8	95272671	95272671	+	Missense_Mutation	SNP	G	G	A	rs140549853		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:95272671G>A	ENST00000297596.2	-	2	325	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	GEM_ENST00000396194.2_Missense_Mutation_p.R21C	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	21					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.R21C(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGCTCCAGCGCTGCTGCTGT	0.592																																					p.R21C	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C61T	8						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	58.0	54.0	55.0		61,61	4.5	1.0	8	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GEM	NM_005261.3,NM_181702.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	21/297,21/297	95272671	1,13005	2203	4300	6503	95341847	SO:0001583	missense	2669	exon2				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.61C>T	8.37:g.95272671G>A	ENSP00000297596:p.Arg21Cys	Somatic		Capture	Illumina HiSeq	Phase_I	95341847	NM_181702	B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068913	0.93950	0.0	1.16E-4	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	T;T;T	0.69175	-0.38;-0.38;1.02	5.38	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	P	0.54706	0.759	T	0.79962	-0.1582	10	0.87932	D	0	.	15.4467	0.75235	0.0:0.0:0.8606:0.1393	.	21	P55040	GEM_HUMAN	C	21	ENSP00000379497:R21C;ENSP00000297596:R21C;ENSP00000428258:R21C	ENSP00000297596:R21C	R	-	1	0	GEM	95341847	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.048000	0.76606	2.519000	0.84933	0.655000	0.94253	CGC		0.592	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
RAD54B	25788	broad.mit.edu	37	8	95399231	95399231	+	Missense_Mutation	SNP	C	C	T	rs375934106	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:95399231C>T	ENST00000336148.5	-	11	2090	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	656	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.E656K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGTCGAAGTTCGTGGATAACC	0.388								Direct reversal of damage;Homologous recombination					C|||	2	0.000399361	0.0	0.0	5008	,	,		16087	0.002		0.0	False		,,,				2504	0.0				p.E656K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1966A	8						.						102.0	92.0	95.0					8																	95399231		2203	4300	6503	95468407	SO:0001583	missense	25788	exon11			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1966G>A	8.37:g.95399231C>T	ENSP00000336606:p.Glu656Lys	Somatic		Capture	Illumina HiSeq	Phase_I	95468407	NM_012415	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131014	0.37630	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.89270	-2.49	5.72	3.9	0.45041	Helicase, C-terminal (1);	0.317156	0.37761	N	0.001957	T	0.69672	0.3137	N	0.10645	0.015	0.80722	D	1	P	0.37352	0.591	B	0.24701	0.055	T	0.66384	-0.5937	10	0.09843	T	0.71	-5.6574	9.011	0.36142	0.0:0.7739:0.1483:0.0778	.	656	Q9Y620	RA54B_HUMAN	K	656;328	ENSP00000336606:E656K	ENSP00000336606:E656K	E	-	1	0	RAD54B	95468407	0.978000	0.34361	0.270000	0.24601	0.791000	0.44710	2.229000	0.42990	0.754000	0.32968	0.591000	0.81541	GAA		0.388	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
TP53INP1	94241	broad.mit.edu	37	8	95942802	95942802	+	Missense_Mutation	SNP	G	G	A	rs527728622		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:95942802G>A	ENST00000342697.4	-	4	1035	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	TP53INP1_ENST00000378776.4_Intron|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	210					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.R210C(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TTTTGGCGACGAAGGCTATTT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19407	0.0		0.001	False		,,,				2504	0.0				p.R210C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	8						.						233.0	238.0	237.0					8																	95942802		2203	4300	6503	96011978	SO:0001583	missense	94241	exon4			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.628C>T	8.37:g.95942802G>A	ENSP00000344215:p.Arg210Cys	Somatic		Capture	Illumina HiSeq	Phase_I	96011978	NM_033285	B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323424	0.81580	.	.	ENSG00000164938	ENST00000342697	T	0.51817	0.69	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.63428	1.95	0.80722	D	1	P	0.36048	0.534	B	0.28991	0.097	T	0.51403	-0.8710	10	0.87932	D	0	-1.7125	15.5979	0.76602	0.0659:0.0:0.9341:0.0	.	210	Q96A56	T53I1_HUMAN	C	210	ENSP00000344215:R210C	ENSP00000344215:R210C	R	-	1	0	TP53INP1	96011978	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.162000	0.89657	1.578000	0.49821	0.655000	0.94253	CGT		0.478	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1		
PLEKHF2	79666	broad.mit.edu	37	8	96166441	96166441	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:96166441T>G	ENST00000315367.3	+	2	410	c.169T>G	c.(169-171)Ttg>Gtg	p.L57V	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.L57V	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)	p.L57V(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCAGTTTTTCTTGTTTAATGA	0.353																																					p.L57V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T169G	8						.						84.0	84.0	84.0					8																	96166441		2203	4300	6503	96235617	SO:0001583	missense	79666	exon2			AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.169T>G	8.37:g.96166441T>G	ENSP00000322373:p.Leu57Val	Somatic		Capture	Illumina HiSeq	Phase_I	96235617	NM_024613		Missense_Mutation	SNP	ENST00000315367.3	37	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215418	0.58452	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.77229	-1.08;-1.08	6.16	3.82	0.43975	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88794	0.3280	10	0.87932	D	0	-10.6177	6.0359	0.19708	0.0:0.3774:0.0:0.6226	.	57	Q9H8W4	PKHF2_HUMAN	V	57	ENSP00000322373:L57V;ENSP00000427792:L57V	ENSP00000322373:L57V	L	+	1	2	PLEKHF2	96235617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.340000	0.33896	1.140000	0.42260	0.528000	0.53228	TTG		0.353	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613	
ZNF16	7564	broad.mit.edu	37	8	146156743	146156743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr8:146156743C>T	ENST00000276816.4	-	4	1616	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF16_ENST00000394909.2_Missense_Mutation_p.R477Q	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	477	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R477Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGGTGCTTTCGGAGCACTGA	0.522																																					p.R477Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1430A	8						.						102.0	97.0	99.0					8																	146156743		2203	4300	6503	146127547	SO:0001583	missense	7564	exon3			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1430G>A	8.37:g.146156743C>T	ENSP00000276816:p.Arg477Gln	Somatic		Capture	Illumina HiSeq	Phase_I	146127547	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	8.180	0.793636	0.16327	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.04275	3.66;3.66	3.91	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08935	0.0221	L	0.31120	0.905	0.09310	N	1	D	0.89917	1.0	D	0.65010	0.931	T	0.35375	-0.9791	9	0.25751	T	0.34	.	7.6921	0.28573	0.0:0.7946:0.0:0.2054	.	477	P17020	ZNF16_HUMAN	Q	477	ENSP00000276816:R477Q;ENSP00000378369:R477Q	ENSP00000276816:R477Q	R	-	2	0	ZNF16	146127547	0.000000	0.05858	0.863000	0.33907	0.084000	0.17831	-0.759000	0.04761	2.006000	0.58801	0.462000	0.41574	CGA		0.522	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958	
LHX3	8022	broad.mit.edu	37	9	139089532	139089533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:139089532_139089533insC	ENST00000371748.5	-	6	928_929	c.832_833insG	c.(832-834)gaafs	p.E278fs	LHX3_ENST00000371746.3_Frame_Shift_Ins_p.E283fs	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	278					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E283fs*92(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGGGTGGGTTCCCCCAAGCTC	0.673																																					p.E278fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.833_834insG	9						.																																			138229354	SO:0001589	frameshift_variant	8022	exon6			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.833dupG	9.37:g.139089537_139089537dupC	ENSP00000360813:p.Glu278fs	Somatic		Capture	Illumina HiSeq	Phase_I	138229353	NM_178138	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Frame_Shift_Ins	INS	ENST00000371748.5	37	CCDS6994.1																																																																																				0.673	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		
NR4A3	8013	broad.mit.edu	37	9	102626067	102626067	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:102626067G>A	ENST00000395097.2	+	8	2528	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	NR4A3_ENST00000330847.1_Missense_Mutation_p.R611H	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	600					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.R611H(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGCCTCCAGCGCATCTTCTAC	0.557			T	EWSR1	extraskeletal myxoid chondrosarcoma																																p.R600H			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1799A	9						.						80.0	67.0	72.0					9																	102626067		2203	4300	6503	101665888	SO:0001583	missense	8013	exon8			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1799G>A	9.37:g.102626067G>A	ENSP00000378531:p.Arg600His	Somatic		Capture	Illumina HiSeq	Phase_I	101665888	NM_006981	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341355	0.81911	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.50277	0.75;0.75	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.52924	-0.8510	10	0.18276	T	0.48	.	20.3325	0.98724	0.0:0.0:1.0:0.0	.	611;600	Q92570-3;Q92570	.;NR4A3_HUMAN	H	600;611	ENSP00000378531:R600H;ENSP00000333122:R611H	ENSP00000333122:R611H	R	+	2	0	NR4A3	101665888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGC		0.557	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1		
TEX10	54881	broad.mit.edu	37	9	103109538	103109538	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:103109538C>A	ENST00000374902.4	-	3	507	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	TEX10_ENST00000535814.1_Missense_Mutation_p.D114Y|TEX10_ENST00000537512.1_Missense_Mutation_p.D46Y	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	111						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.D111Y(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ACATTAGCATCTTTATCTGTA	0.373																																					p.D111Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331T	9						.						144.0	151.0	149.0					9																	103109538		2203	4300	6503	102149359	SO:0001583	missense	54881	exon3			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.331G>T	9.37:g.103109538C>A	ENSP00000364037:p.Asp111Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	102149359	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884601	0.72410	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.68181	-0.31;-0.31;-0.31	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.089403	0.85682	D	0.000000	D	0.85358	0.5678	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.987;0.987;0.969	D	0.87593	0.2492	10	0.72032	D	0.01	-11.3728	19.4714	0.94965	0.0:1.0:0.0:0.0	.	46;114;111	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	Y	114;111;46	ENSP00000444555:D114Y;ENSP00000364037:D111Y;ENSP00000438120:D46Y	ENSP00000364037:D111Y	D	-	1	0	TEX10	102149359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.588000	0.87417	0.591000	0.81541	GAT		0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
GRIN3A	116443	broad.mit.edu	37	9	104432909	104432909	+	Silent	SNP	G	G	A	rs369210508		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:104432909G>A	ENST00000361820.3	-	3	2385	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	595					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.F595F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TATAGAGGTCGAAGTCAAAGT	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22281	0.0		0.0	False		,,,				2504	0.0				p.F595F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1785T	9						.	G		0,4406		0,0,2203	101.0	85.0	90.0		1785	4.6	1.0	9		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		595/1116	104432909	1,13005	2203	4300	6503	103472730	SO:0001819	synonymous_variant	116443	exon3				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1785C>T	9.37:g.104432909G>A		Somatic		Capture	Illumina HiSeq	Phase_I	103472730	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.453	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
CYLC2	1539	broad.mit.edu	37	9	105757676	105757676	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:105757676G>T	ENST00000374798.3	+	1	84	c.14G>T	c.(13-15)aGa>aTa	p.R5I	CYLC2_ENST00000487798.1_Missense_Mutation_p.R5I	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	5					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R5I(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TCTCTCCCAAGATTGTAAGTC	0.308																																					p.R5I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G14T	9						.						105.0	106.0	106.0					9																	105757676		2203	4299	6502	104797497	SO:0001583	missense	1539	exon1			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.14G>T	9.37:g.105757676G>T	ENSP00000420256:p.Arg5Ile	Somatic		Capture	Illumina HiSeq	Phase_I	104797497	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471388	0.63737	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.21361	2.01;2.01	4.18	4.18	0.49190	.	.	.	.	.	T	0.40956	0.1138	M	0.61703	1.905	0.46874	D	0.999235	D	0.71674	0.998	D	0.71656	0.974	T	0.19745	-1.0296	9	0.72032	D	0.01	-0.5776	12.2997	0.54868	0.0:0.0:1.0:0.0	.	5	Q14093	CYLC2_HUMAN	I	5	ENSP00000420256:R5I;ENSP00000417674:R5I	ENSP00000420256:R5I	R	+	2	0	CYLC2	104797497	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.616000	0.54174	2.615000	0.88500	0.555000	0.69702	AGA		0.308	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
CYLC2	1539	broad.mit.edu	37	9	105767872	105767872	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:105767872A>C	ENST00000374798.3	+	5	1029	c.959A>C	c.(958-960)aAg>aCg	p.K320T	CYLC2_ENST00000487798.1_Missense_Mutation_p.K320T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	320	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.K320T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aaggatgcaaagaaaaatgct	0.403																																					p.K320T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A959C	9						.						48.0	48.0	48.0					9																	105767872		2203	4300	6503	104807693	SO:0001583	missense	1539	exon5			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.959A>C	9.37:g.105767872A>C	ENSP00000420256:p.Lys320Thr	Somatic		Capture	Illumina HiSeq	Phase_I	104807693	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	9.599	1.128209	0.21041	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16897	2.31;2.31	4.23	3.06	0.35304	.	0.350509	0.21259	N	0.077508	T	0.21347	0.0514	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.60541	0.876	T	0.05022	-1.0911	10	0.33141	T	0.24	.	7.7961	0.29148	0.7875:0.2125:0.0:0.0	.	320	Q14093	CYLC2_HUMAN	T	320	ENSP00000420256:K320T;ENSP00000417674:K320T	ENSP00000420256:K320T	K	+	2	0	CYLC2	104807693	0.560000	0.26570	0.072000	0.20136	0.041000	0.13682	0.960000	0.29253	0.751000	0.32900	0.397000	0.26171	AAG		0.403	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
OR13C3	138803	broad.mit.edu	37	9	107298956	107298956	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:107298956G>T	ENST00000374781.2	-	1	181	c.139C>A	c.(139-141)Ctt>Att	p.L47I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47I(1)|p.L47F(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TATCCAGAAAGACCCAGAAGA	0.363																																					p.L47I	GBM(86;1248 1274 14222 15028 46219)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C139A	9						.						74.0	72.0	73.0					9																	107298956		2203	4300	6503	106338777	SO:0001583	missense	138803	exon1				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.139C>A	9.37:g.107298956G>T	ENSP00000363913:p.Leu47Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106338777	NM_001001961	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	8.012	0.757725	0.15846	.	.	ENSG00000204246	ENST00000374781	T	0.00335	8.06	4.81	0.834	0.18880	.	0.174346	0.27522	N	0.018984	T	0.00241	0.0007	L	0.55481	1.735	0.09310	N	1	B	0.31752	0.338	B	0.33620	0.167	T	0.41574	-0.9501	10	0.54805	T	0.06	.	5.2514	0.15524	0.1603:0.0:0.5545:0.2853	.	47	Q8NGS6	O13C3_HUMAN	I	47	ENSP00000363913:L47I	ENSP00000363913:L47I	L	-	1	0	OR13C3	106338777	0.004000	0.15560	0.060000	0.19600	0.441000	0.31987	0.175000	0.16762	0.055000	0.16094	0.655000	0.94253	CTT		0.363	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
OR13C3	138803	broad.mit.edu	37	9	107299062	107299062	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:107299062G>T	ENST00000374781.2	-	1	75	c.33C>A	c.(31-33)ttC>ttA	p.F11L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F11L(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTACTGCCAAGAAACAAACAG	0.348																																					p.F11L	GBM(86;1248 1274 14222 15028 46219)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C33A	9						.						64.0	62.0	62.0					9																	107299062		2203	4300	6503	106338883	SO:0001583	missense	138803	exon1				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.33C>A	9.37:g.107299062G>T	ENSP00000363913:p.Phe11Leu	Somatic		Capture	Illumina HiSeq	Phase_I	106338883	NM_001001961	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	7.791	0.711599	0.15306	.	.	ENSG00000204246	ENST00000374781	T	0.08102	3.13	5.31	-2.06	0.07298	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.42258	-0.9462	9	0.36615	T	0.2	.	5.9215	0.19084	0.2939:0.2378:0.4683:0.0	.	11	Q8NGS6	O13C3_HUMAN	L	11	ENSP00000363913:F11L	ENSP00000363913:F11L	F	-	3	2	OR13C3	106338883	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.143000	0.16115	-0.639000	0.05502	-0.176000	0.13171	TTC		0.348	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
OR13C9	286362	broad.mit.edu	37	9	107379805	107379805	+	Missense_Mutation	SNP	C	C	A	rs75722756		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:107379805C>A	ENST00000259362.1	-	1	680	c.681G>T	c.(679-681)aaG>aaT	p.K227N		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K227N(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGGAGTGAATCTTGAGGATGC	0.428																																					p.K227N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G681T	9						.						77.0	74.0	75.0					9																	107379805		2202	4300	6502	106419626	SO:0001583	missense	286362	exon1				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.681G>T	9.37:g.107379805C>A	ENSP00000259362:p.Lys227Asn	Somatic		Capture	Illumina HiSeq	Phase_I	106419626	NM_001001956	Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.623137	0.28889	.	.	ENSG00000136839	ENST00000259362	T	0.00183	8.6	4.46	-0.944	0.10392	GPCR, rhodopsin-like superfamily (1);	0.261191	0.26574	N	0.023617	T	0.00210	0.0006	M	0.72353	2.195	0.21184	N	0.999765	B	0.15719	0.014	B	0.23852	0.049	T	0.46233	-0.9206	10	0.72032	D	0.01	.	5.2278	0.15404	0.0:0.4589:0.2764:0.2647	.	227	Q8NGT0	O13C9_HUMAN	N	227	ENSP00000259362:K227N	ENSP00000259362:K227N	K	-	3	2	OR13C9	106419626	0.000000	0.05858	0.006000	0.13384	0.911000	0.54048	-2.121000	0.01322	-0.414000	0.07495	0.643000	0.83706	AAG		0.428	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1		
OR13D1	286365	broad.mit.edu	37	9	107457551	107457551	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:107457551C>A	ENST00000318763.5	+	1	892	c.849C>A	c.(847-849)ttC>ttA	p.F283L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F283L(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCATCTTATTCTACGGTTCAG	0.408																																					p.F283L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C849A	9						.						161.0	158.0	159.0					9																	107457551		2203	4300	6503	106497372	SO:0001583	missense	286365	exon1				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.849C>A	9.37:g.107457551C>A	ENSP00000317357:p.Phe283Leu	Somatic		Capture	Illumina HiSeq	Phase_I	106497372	NM_001004484	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907882	0.52333	.	.	ENSG00000179055	ENST00000318763	T	0.00285	8.3	3.87	0.891	0.19224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000220	T	0.00524	0.0017	M	0.84326	2.69	0.28362	N	0.920402	D	0.65815	0.995	D	0.68039	0.955	T	0.38286	-0.9668	10	0.87932	D	0	.	6.2892	0.21051	0.0:0.5428:0.0:0.4572	.	283	Q8NGV5	O13D1_HUMAN	L	283	ENSP00000317357:F283L	ENSP00000317357:F283L	F	+	3	2	OR13D1	106497372	0.709000	0.27886	0.855000	0.33649	0.734000	0.41952	0.488000	0.22371	0.302000	0.22762	0.511000	0.50034	TTC		0.408	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1		
ABCA1	19	broad.mit.edu	37	9	107645370	107645370	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:107645370T>C	ENST00000374736.3	-	5	765	c.371A>G	c.(370-372)gAc>gGc	p.D124G	ABCA1_ENST00000374733.1_Missense_Mutation_p.D64G|ABCA1_ENST00000423487.2_Missense_Mutation_p.D124G	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	124					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.D124G(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTTGCGCATGTCCTTCATGCT	0.443																																					p.D124G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A371G	9						.						164.0	154.0	158.0					9																	107645370		2203	4300	6503	106685191	SO:0001583	missense	19	exon5			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.371A>G	9.37:g.107645370T>C	ENSP00000363868:p.Asp124Gly	Somatic		Capture	Illumina HiSeq	Phase_I	106685191	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.684142	0.29872	.	.	ENSG00000165029	ENST00000374736;ENST00000423487;ENST00000374733	D;D;D	0.96522	-4.04;-4.04;-4.04	5.49	5.49	0.81192	.	0.093898	0.64402	D	0.000001	D	0.87208	0.6120	N	0.01352	-0.895	0.48341	D	0.999638	B;B	0.15473	0.013;0.0	B;B	0.19946	0.027;0.001	D	0.84327	0.0519	10	0.09338	T	0.73	.	15.8766	0.79170	0.0:0.0:0.0:1.0	.	64;124	B1AMI1;O95477	.;ABCA1_HUMAN	G	124;124;64	ENSP00000363868:D124G;ENSP00000416623:D124G;ENSP00000363865:D64G	ENSP00000363865:D64G	D	-	2	0	ABCA1	106685191	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.454000	0.66651	2.208000	0.71279	0.533000	0.62120	GAC		0.443	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
EPB41L4B	54566	broad.mit.edu	37	9	111965990	111965990	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:111965990C>T	ENST00000374566.3	-	19	2416	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	633					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.P633P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATTTACAAACGGTGATTCCT	0.368																																					p.P633P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1899A	9						.						206.0	192.0	197.0					9																	111965990		1905	4105	6010	111005811	SO:0001819	synonymous_variant	54566	exon19			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1899G>A	9.37:g.111965990C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111005811	NM_019114	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																				0.368	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
SVEP1	79987	broad.mit.edu	37	9	113166814	113166814	+	Silent	SNP	C	C	T	rs563655189		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:113166814C>T	ENST00000401783.2	-	39	9795	c.9459G>A	c.(9457-9459)acG>acA	p.T3153T	SVEP1_ENST00000374469.1_Silent_p.T3130T|SVEP1_ENST00000297826.5_Silent_p.T1079T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3153	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.T3156T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGTATCCATCGTATAACCTT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20952	0.0		0.0	False		,,,				2504	0.001				p.T3153T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9459A	9						.						219.0	210.0	213.0					9																	113166814		1889	4115	6004	112206635	SO:0001819	synonymous_variant	79987	exon39			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9459G>A	9.37:g.113166814C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112206635	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113192599	113192599	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:113192599A>G	ENST00000401783.2	-	33	5821	c.5485T>C	c.(5485-5487)Tgt>Cgt	p.C1829R	SVEP1_ENST00000374469.1_Missense_Mutation_p.C1806R|SVEP1_ENST00000297826.5_5'Flank	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1829	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.C1832R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACTCCAAACATGTGATTTTG	0.393																																					p.C1829R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5485C	9						.						87.0	80.0	82.0					9																	113192599		1882	4116	5998	112232420	SO:0001583	missense	79987	exon33			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5485T>C	9.37:g.113192599A>G	ENSP00000384917:p.Cys1829Arg	Somatic		Capture	Illumina HiSeq	Phase_I	112232420	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796985	0.70567	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.92647	-3.08;-3.08	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.089367	0.85682	D	0.000000	D	0.97663	0.9234	H	0.99312	4.51	0.80722	D	1	D	0.58970	0.984	P	0.62184	0.899	D	0.99278	1.0895	10	0.87932	D	0	.	15.3726	0.74577	1.0:0.0:0.0:0.0	.	1829	Q4LDE5	SVEP1_HUMAN	R	1829;1806	ENSP00000384917:C1829R;ENSP00000363593:C1806R	ENSP00000363593:C1806R	C	-	1	0	SVEP1	112232420	1.000000	0.71417	0.811000	0.32455	0.780000	0.44128	7.550000	0.82173	2.209000	0.71365	0.533000	0.62120	TGT		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113194221	113194221	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:113194221T>C	ENST00000401783.2	-	32	5663	c.5327A>G	c.(5326-5328)tAc>tGc	p.Y1776C	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1753C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1776	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.Y1779C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCTCCTGTGTACGGTGGGAC	0.373																																					p.Y1776C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5327G	9						.						144.0	135.0	138.0					9																	113194221		1930	4152	6082	112234042	SO:0001583	missense	79987	exon32			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5327A>G	9.37:g.113194221T>C	ENSP00000384917:p.Tyr1776Cys	Somatic		Capture	Illumina HiSeq	Phase_I	112234042	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991260	0.54041	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.95656	-3.77;-3.77	5.62	5.62	0.85841	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.058449	0.64402	D	0.000001	D	0.98676	0.9556	H	0.98407	4.225	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.99616	1.0982	10	0.66056	D	0.02	.	15.8276	0.78727	0.0:0.0:0.0:1.0	.	1776	Q4LDE5	SVEP1_HUMAN	C	1776;1753	ENSP00000384917:Y1776C;ENSP00000363593:Y1753C	ENSP00000363593:Y1753C	Y	-	2	0	SVEP1	112234042	1.000000	0.71417	0.999000	0.59377	0.062000	0.15995	7.473000	0.81007	2.122000	0.65172	0.533000	0.62120	TAC		0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
KIAA0368	23392	broad.mit.edu	37	9	114155095	114155095	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114155095T>G	ENST00000338205.5	-	27	3264	c.3045A>C	c.(3043-3045)caA>caC	p.Q1015H	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.Q1193H			Q5VYK3	ECM29_HUMAN	KIAA0368	1021					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.Q1193H(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCAATTCCTGTTGATCTTGTT	0.388																																					p.Q1193H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3579C	9						.						136.0	131.0	132.0					9																	114155095		1847	4097	5944	113194916	SO:0001583	missense	23392	exon29			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3045A>C	9.37:g.114155095T>G	ENSP00000339889:p.Gln1015His	Somatic		Capture	Illumina HiSeq	Phase_I	113194916	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	T	18.40	3.614707	0.66672	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.49720	0.77	5.4	0.413	0.16401	.	0.059392	0.64402	D	0.000002	T	0.61515	0.2353	M	0.74881	2.28	0.80722	D	1	D	0.64830	0.994	D	0.65987	0.94	T	0.62115	-0.6922	10	0.72032	D	0.01	.	9.5926	0.39554	0.0:0.4146:0.0:0.5854	.	490	B3KXF2	.	H	1015;1193;490	ENSP00000259335:Q1193H	ENSP00000259335:Q1193H	Q	-	3	2	KIAA0368	113194916	0.901000	0.30685	1.000000	0.80357	0.979000	0.70002	-0.014000	0.12656	0.124000	0.18369	-0.478000	0.04885	CAA		0.388	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
KIAA0368	23392	broad.mit.edu	37	9	114184240	114184240	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114184240T>C	ENST00000338205.5	-	14	1635	c.1416A>G	c.(1414-1416)cgA>cgG	p.R472R	KIAA0368_ENST00000259335.4_Silent_p.R650R			Q5VYK3	ECM29_HUMAN	KIAA0368	478			T -> S (in dbSNP:rs16916091).		ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R650R(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCATGAGAGTTCGCTGTGCCC	0.408																																					p.R650R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1950G	9						.						72.0	68.0	69.0					9																	114184240		1894	4121	6015	113224061	SO:0001819	synonymous_variant	23392	exon16			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1416A>G	9.37:g.114184240T>C		Somatic		Capture	Illumina HiSeq	Phase_I	113224061	NM_001080398	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																					0.408	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
KIAA0368	23392	broad.mit.edu	37	9	114246997	114246997	+	Missense_Mutation	SNP	T	T	C	rs568575975	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114246997T>C	ENST00000259335.4	-	1	28	c.29A>G	c.(28-30)aAa>aGa	p.K10R	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.K10R(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATTTTAACTTTCTGCCTTCG	0.373																																					p.K10R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A29G	9						.						267.0	252.0	257.0					9																	114246997		1865	4102	5967	113286818	SO:0001583	missense	23392	exon1			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.29A>G	9.37:g.114246997T>C	ENSP00000259335:p.Lys10Arg	Somatic		Capture	Illumina HiSeq	Phase_I	113286818	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000259335.4	37	CCDS48006.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.334191	0.41297	.	.	ENSG00000136813	ENST00000259335	T	0.50001	0.76	4.22	1.75	0.24633	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.21290	N	0.999736	.	.	.	.	.	.	T	0.40646	-0.9552	6	0.87932	D	0	.	4.8876	0.13710	0.1872:0.0:0.1952:0.6176	.	.	.	.	R	10	ENSP00000259335:K10R	ENSP00000259335:K10R	K	-	2	0	KIAA0368	113286818	0.013000	0.17824	0.211000	0.23655	0.012000	0.07955	0.184000	0.16939	0.238000	0.21222	0.533000	0.62120	AAA		0.373	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686	
ZNF483	158399	broad.mit.edu	37	9	114305011	114305011	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114305011G>T	ENST00000309235.5	+	6	1954	c.1796G>T	c.(1795-1797)aGa>aTa	p.R599I	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R599I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CGGCATCAGAGAATTCACACT	0.388																																					p.R599I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1796T	9						.						57.0	61.0	60.0					9																	114305011		2203	4300	6503	113344832	SO:0001583	missense	158399	exon6			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1796G>T	9.37:g.114305011G>T	ENSP00000311679:p.Arg599Ile	Somatic		Capture	Illumina HiSeq	Phase_I	113344832	NM_133464	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872802	0.72180	.	.	ENSG00000173258	ENST00000309235	T	0.24908	1.83	3.84	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129636	0.35615	N	0.003096	T	0.44180	0.1281	M	0.79693	2.465	0.80722	D	1	D	0.53745	0.962	P	0.58780	0.845	T	0.43940	-0.9360	10	0.62326	D	0.03	-21.0646	8.921	0.35612	0.1158:0.0:0.8842:0.0	.	599	Q8TF39	ZN483_HUMAN	I	599	ENSP00000311679:R599I	ENSP00000311679:R599I	R	+	2	0	ZNF483	113344832	0.008000	0.16893	0.997000	0.53966	0.997000	0.91878	1.620000	0.36976	1.168000	0.42723	0.655000	0.94253	AGA		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
UGCG	7357	broad.mit.edu	37	9	114694549	114694549	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114694549C>T	ENST00000374279.3	+	8	1374	c.924C>T	c.(922-924)caC>caT	p.H308H	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	308					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.H308H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GGGCAGCCCACCATGTGTTCA	0.408																																					p.H308H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	9						.						183.0	174.0	177.0					9																	114694549		2203	4300	6503	113734370	SO:0001819	synonymous_variant	7357	exon8			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.924C>T	9.37:g.114694549C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113734370	NM_003358	Q5T258	Silent	SNP	ENST00000374279.3	37	CCDS6782.1																																																																																				0.408	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358	
SUSD1	64420	broad.mit.edu	37	9	114873965	114873965	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114873965C>T	ENST00000374270.3	-	8	1312	c.1140G>A	c.(1138-1140)tcG>tcA	p.S380S	SUSD1_ENST00000374264.2_Silent_p.S380S|SUSD1_ENST00000374263.3_Silent_p.S380S	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	380						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S380S(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CGGCTGGCATCGAGCGCCTGG	0.547																																					p.S380S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1140A	9						.						158.0	140.0	147.0					9																	114873965		2203	4300	6503	113913786	SO:0001819	synonymous_variant	64420	exon8			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1140G>A	9.37:g.114873965C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113913786	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.524|8.524	0.869397|0.869397	0.17322|0.17322	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000415074	.|.	.|.	.|.	5.6|5.6	-11.2|-11.2	0.00127|0.00127	.|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999994|0.999994	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51896|0.51896	-0.8647|-0.8647	4|4	.|.	.|.	.|.	-13.4555|-13.4555	6.4475|6.4475	0.21885|0.21885	0.1797:0.2187:0.5024:0.0992|0.1797:0.2187:0.5024:0.0992	.|.	.|.	.|.	.|.	N|Q	364|194	.|.	.|.	D|R	-|-	1|2	0|0	SUSD1|SUSD1	113913786|113913786	0.000000|0.000000	0.05858|0.05858	0.360000|0.360000	0.25837|0.25837	0.802000|0.802000	0.45316|0.45316	-2.387000|-2.387000	0.01060|0.01060	-1.983000|-1.983000	0.00987|0.00987	-1.089000|-1.089000	0.02181|0.02181	GAT|CGA		0.547	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
PTBP3	9991	broad.mit.edu	37	9	114986418	114986418	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:114986418G>T	ENST00000374255.2	-	14	1668	c.1521C>A	c.(1519-1521)ttC>ttA	p.F507L	PTBP3_ENST00000458258.1_Missense_Mutation_p.F513L|PTBP3_ENST00000334318.6_Missense_Mutation_p.F510L|PTBP3_ENST00000343327.2_Missense_Mutation_p.F412L|PTBP3_ENST00000374257.1_Missense_Mutation_p.F479L			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	507	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F507L(1)									CTTACTGAAAGAATTTAAAAG	0.358																																					p.F510L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1530A	9						.						67.0	72.0	70.0					9																	114986418		2203	4300	6503	114026239	SO:0001583	missense	9991	exon14			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1521C>A	9.37:g.114986418G>T	ENSP00000363373:p.Phe507Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114026239	NM_001163790	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248123	0.59103	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.8	2.88	0.33553	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048523	0.85682	N	0.000000	T	0.17662	0.0424	L	0.61036	1.89	0.58432	D	0.999997	D;D;D;D;P;D	0.89917	0.971;1.0;0.971;0.992;0.933;0.966	D;D;D;D;D;P	0.91635	0.924;0.999;0.924;0.927;0.929;0.899	T	0.00444	-1.1735	10	0.48119	T	0.1	-5.5734	7.675	0.28480	0.4368:0.0:0.5632:0.0	.	479;479;412;510;507;513	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	L	479;510;513;507;412	ENSP00000363375:F479L;ENSP00000334499:F510L;ENSP00000414921:F513L;ENSP00000363373:F507L;ENSP00000340705:F412L	ENSP00000334499:F510L	F	-	3	2	ROD1	114026239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.213000	0.32407	0.731000	0.32448	0.563000	0.77884	TTC		0.358	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		
TNC	3371	broad.mit.edu	37	9	117848389	117848389	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:117848389G>A	ENST00000350763.4	-	3	2032	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	TNC_ENST00000535648.1_Missense_Mutation_p.R541C|TNC_ENST00000423613.2_Missense_Mutation_p.R541C|TNC_ENST00000542877.1_Missense_Mutation_p.R541C|TNC_ENST00000537320.1_Missense_Mutation_p.R541C|TNC_ENST00000340094.3_Missense_Mutation_p.R541C|TNC_ENST00000345230.3_Missense_Mutation_p.R541C|TNC_ENST00000346706.3_Missense_Mutation_p.R541C|TNC_ENST00000341037.4_Missense_Mutation_p.R541C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	541	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R541C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCACACAGCGACCCTGGCCA	0.592																																					p.R541C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1621T	9						.						87.0	66.0	73.0					9																	117848389		2203	4300	6503	116888210	SO:0001583	missense	3371	exon3				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1621C>T	9.37:g.117848389G>A	ENSP00000265131:p.Arg541Cys	Somatic		Capture	Illumina HiSeq	Phase_I	116888210	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218307	0.39201	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89;3.89;3.89;3.89;3.89	5.95	5.05	0.67936	EGF, extracellular (1);Epidermal growth factor-like (1);	0.254052	0.47852	D	0.000212	T	0.20414	0.0491	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.75020	0.985;0.88	T	0.01045	-1.1470	10	0.87932	D	0	.	12.8622	0.57920	0.0:0.1248:0.7454:0.1298	.	541;541	E9PC84;P24821	.;TENA_HUMAN	C	541	ENSP00000344400:R541C;ENSP00000438152:R541C;ENSP00000344555:R541C;ENSP00000345861:R541C;ENSP00000265131:R541C;ENSP00000339553:R541C;ENSP00000411406:R541C;ENSP00000443478:R541C;ENSP00000442242:R541C	ENSP00000344400:R541C	R	-	1	0	TNC	116888210	1.000000	0.71417	0.930000	0.37139	0.079000	0.17450	7.968000	0.87980	1.512000	0.48834	0.563000	0.77884	CGC		0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
CDK5RAP2	55755	broad.mit.edu	37	9	123205940	123205940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:123205940C>T	ENST00000349780.4	-	23	3285	c.3106G>A	c.(3106-3108)Gac>Aac	p.D1036N	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D1004N|CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1036N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1036	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.D1036N(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTTCCTTGTCTCTCCAGACA	0.502																																					p.D1036N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3106A	9						.						247.0	217.0	227.0					9																	123205940		2203	4300	6503	122245761	SO:0001583	missense	55755	exon23			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3106G>A	9.37:g.123205940C>T	ENSP00000343818:p.Asp1036Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122245761	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163030	0.78226	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.19394	3.81;3.84;3.75;2.15	4.41	1.38	0.22167	.	0.588761	0.15071	N	0.282184	T	0.25269	0.0614	L	0.29908	0.895	0.09310	N	0.999999	P;P;D;B;D	0.71674	0.557;0.557;0.997;0.421;0.998	B;B;D;B;D	0.71414	0.203;0.203;0.926;0.1;0.973	T	0.11299	-1.0593	10	0.25751	T	0.34	.	5.0111	0.14313	0.0:0.611:0.1784:0.2106	.	805;1004;1036;1036;430	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	N	1004;1036;1036;430;808	ENSP00000354065:D1004N;ENSP00000343818:D1036N;ENSP00000353317:D1036N;ENSP00000400395:D430N	ENSP00000341695:D808N	D	-	1	0	CDK5RAP2	122245761	0.267000	0.24122	0.237000	0.24090	0.751000	0.42716	0.510000	0.22723	0.389000	0.25086	0.462000	0.41574	GAC		0.502	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
PHF19	26147	broad.mit.edu	37	9	123631996	123631996	+	Intron	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:123631996C>T	ENST00000373896.3	-	5	718				PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000312189.6_Missense_Mutation_p.A198T|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19						chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.A198T(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						gtggcagaggcgctatctgtc	0.567																																					p.A198T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592A	9						.						35.0	26.0	29.0					9																	123631996		2181	4282	6463	122671817	SO:0001627	intron_variant	26147	exon5			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.465+126G>A	9.37:g.123631996C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122671817	NM_001009936	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	9.423	1.083626	0.20309	.	.	ENSG00000119403	ENST00000312189	T	0.30981	1.51	3.48	-4.96	0.03038	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.31530	-0.9940	8	0.87932	D	0	.	5.0166	0.14339	0.0:0.3337:0.2742:0.392	.	198	Q5T6S3-2	.	T	198	ENSP00000310372:A198T	ENSP00000310372:A198T	A	-	1	0	PHF19	122671817	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-2.764000	0.00784	-1.135000	0.02895	-0.657000	0.03884	GCC		0.567	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	
TTLL11	158135	broad.mit.edu	37	9	124794080	124794080	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:124794080C>T	ENST00000373776.3	-	3	1072	c.885G>A	c.(883-885)caG>caA	p.Q295Q	TTLL11_ENST00000321582.5_Silent_p.Q295Q|TTLL11_ENST00000474723.1_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.Q295Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GAAAGAGATTCTGCATGGTTC	0.507																																					p.Q295Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G885A	9						.						143.0	127.0	133.0					9																	124794080		2203	4300	6503	123833901	SO:0001819	synonymous_variant	158135	exon3			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.885G>A	9.37:g.124794080C>T		Somatic		Capture	Illumina HiSeq	Phase_I	123833901	NM_001139442		Silent	SNP	ENST00000373776.3	37	CCDS6834.2																																																																																				0.507	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
OR1J4	26219	broad.mit.edu	37	9	125282134	125282134	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125282134T>C	ENST00000340750.1	+	1	715	c.715T>C	c.(715-717)Tcc>Ccc	p.S239P		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S239P(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CAAAGCTTTGTCCACCTGTGG	0.468																																					p.S239P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T715C	9						.						157.0	146.0	150.0					9																	125282134		2203	4300	6503	124321955	SO:0001583	missense	26219	exon1			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.715T>C	9.37:g.125282134T>C	ENSP00000343521:p.Ser239Pro	Somatic		Capture	Illumina HiSeq	Phase_I	124321955	NM_001004452	A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224739	0.39300	.	.	ENSG00000239590	ENST00000340750	T	0.00309	8.16	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34777	U	0.003699	T	0.00967	0.0032	H	0.97806	4.08	0.27745	N	0.944332	P	0.49961	0.93	P	0.53988	0.739	T	0.05903	-1.0857	10	0.87932	D	0	.	14.8569	0.70344	0.0:0.0:0.0:1.0	.	239	Q8NGS1	OR1J4_HUMAN	P	239	ENSP00000343521:S239P	ENSP00000343521:S239P	S	+	1	0	OR1J4	124321955	0.000000	0.05858	1.000000	0.80357	0.120000	0.20174	0.824000	0.27379	2.340000	0.79590	0.529000	0.55759	TCC		0.468	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1		
OR1N1	138883	broad.mit.edu	37	9	125289159	125289159	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125289159G>T	ENST00000304880.2	-	1	413	c.414C>A	c.(412-414)gtC>gtA	p.V138V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V138V(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGGGCACAGACTTGGGGCC	0.547																																					p.V138V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414A	9						.						103.0	86.0	92.0					9																	125289159		2203	4300	6503	124328980	SO:0001819	synonymous_variant	138883	exon1			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.414C>A	9.37:g.125289159G>T		Somatic		Capture	Illumina HiSeq	Phase_I	124328980	NM_012363	A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	CCDS6844.1																																																																																				0.547	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1		
OR1N2	138882	broad.mit.edu	37	9	125316274	125316274	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125316274T>C	ENST00000373688.2	+	1	884	c.826T>C	c.(826-828)Tat>Cat	p.Y276H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y276H(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TATGGGTGTGTATTTACTTCC	0.453																																					p.Y276H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T826C	9						.						203.0	207.0	206.0					9																	125316274		2203	4300	6503	124356095	SO:0001583	missense	138882	exon1				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.826T>C	9.37:g.125316274T>C	ENSP00000362792:p.Tyr276His	Somatic		Capture	Illumina HiSeq	Phase_I	124356095	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929438	0.52759	.	.	ENSG00000171501	ENST00000373688	T	0.00291	8.27	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000605	T	0.00724	0.0024	M	0.85041	2.73	0.20975	N	0.999814	D	0.76494	0.999	D	0.72625	0.978	T	0.35968	-0.9767	10	0.66056	D	0.02	.	13.1813	0.59655	0.0:0.0:0.0:1.0	.	276	Q8NGR9	OR1N2_HUMAN	H	276	ENSP00000362792:Y276H	ENSP00000362792:Y276H	Y	+	1	0	OR1N2	124356095	0.997000	0.39634	0.992000	0.48379	0.710000	0.40934	4.866000	0.63005	1.933000	0.56026	0.524000	0.50904	TAT		0.453	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2		
OR1L6	392390	broad.mit.edu	37	9	125512323	125512323	+	Missense_Mutation	SNP	A	A	G	rs146011125		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125512323A>G	ENST00000373684.1	+	1	305	c.305A>G	c.(304-306)aAc>aGc	p.N102S	OR1L6_ENST00000304720.2_Missense_Mutation_p.N66S			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N102S(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TTTCTCAGCAACTTGTCTTTC	0.488																																					p.N66S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A197G	9						.	A	SER/ASN	0,4406		0,0,2203	94.0	89.0	91.0		197	3.2	1.0	9	dbSNP_134	91	1,8593		0,1,4296	no	missense	OR1L6	NM_001004453.2	46	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	66/312	125512323	1,12999	2203	4297	6500	124552144	SO:0001583	missense	392390	exon1				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.305A>G	9.37:g.125512323A>G	ENSP00000362788:p.Asn102Ser	Somatic		Capture	Illumina HiSeq	Phase_I	124552144	NM_001004453	Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37		.	.	.	.	.	.	.	.	.	.	.	14.43	2.533598	0.45073	0.0	1.16E-4	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01963	4.53;4.53	4.35	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.108803	0.40302	N	0.001139	T	0.02888	0.0086	L	0.50993	1.605	0.32040	N	0.598332	P	0.48503	0.911	B	0.40134	0.32	T	0.24297	-1.0164	10	0.72032	D	0.01	-22.1104	9.2165	0.37351	0.9103:0.0:0.0897:0.0	.	102	Q8NGR2	OR1L6_HUMAN	S	102;66	ENSP00000362788:N102S;ENSP00000304235:N66S	ENSP00000304235:N66S	N	+	2	0	OR1L6	124552144	0.000000	0.05858	0.952000	0.39060	0.988000	0.76386	0.453000	0.21811	0.801000	0.34066	-0.290000	0.09829	AAC		0.488	OR1L6-201	KNOWN	basic	protein_coding	protein_coding			
OR1K1	392392	broad.mit.edu	37	9	125562518	125562518	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125562518C>T	ENST00000277309.2	+	1	149	c.117C>T	c.(115-117)agC>agT	p.S39S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S39S(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATGTGGCCAGCCTCCTGGGTA	0.537																																					p.S39S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	9						.						116.0	95.0	102.0					9																	125562518		2203	4300	6503	124602339	SO:0001819	synonymous_variant	392392	exon1			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.117C>T	9.37:g.125562518C>T		Somatic		Capture	Illumina HiSeq	Phase_I	124602339	NM_080859	B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	CCDS35132.1																																																																																				0.537	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1		
GPR21	2844	broad.mit.edu	37	9	125797492	125797492	+	Missense_Mutation	SNP	G	G	A	rs200334416		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125797492G>A	ENST00000373642.1	+	1	687	c.647G>A	c.(646-648)cGc>cAc	p.R216H	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	216					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R216H(2)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AACATCTTCCGCATCTGCCAA	0.537																																					p.R216H												.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.G647A	9						.	G	HIS/ARG,	0,4406		0,0,2203	129.0	121.0	124.0		647,	5.7	1.0	9		124	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron	GPR21,RABGAP1	NM_005294.1,NM_012197.3	29,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,	216/350,	125797492	2,13004	2203	4300	6503	124837313	SO:0001583	missense	2844	exon1			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.647G>A	9.37:g.125797492G>A	ENSP00000362746:p.Arg216His	Somatic		Capture	Illumina HiSeq	Phase_I	124837313	NM_005294	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262875	0.39995	0.0	2.33E-4	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.39592	1.07	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.087691	0.44902	U	0.000404	T	0.37571	0.1008	L	0.45137	1.4	0.80722	D	1	P	0.40602	0.723	B	0.34093	0.175	T	0.23297	-1.0192	10	0.45353	T	0.12	-10.9871	19.7725	0.96373	0.0:0.0:1.0:0.0	.	216	Q99679	GPR21_HUMAN	H	216	ENSP00000362746:R216H	ENSP00000362746:R216H	R	+	2	0	GPR21	124837313	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.998000	0.70653	2.673000	0.90976	0.467000	0.42956	CGC		0.537	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294	
STRBP	55342	broad.mit.edu	37	9	125941341	125941341	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:125941341T>G	ENST00000348403.5	-	4	598	c.169A>C	c.(169-171)Aaa>Caa	p.K57Q	STRBP_ENST00000360998.3_Missense_Mutation_p.K43Q|STRBP_ENST00000447404.2_Missense_Mutation_p.K57Q	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	57	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.K57Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CCCTCTGTTTTTGTGCCTTTA	0.448																																					p.K43Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127C	9						.						214.0	198.0	203.0					9																	125941341		2203	4300	6503	124981162	SO:0001583	missense	55342	exon4			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.169A>C	9.37:g.125941341T>G	ENSP00000321347:p.Lys57Gln	Somatic		Capture	Illumina HiSeq	Phase_I	124981162	NM_001171137	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380961	0.24944	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998;ENST00000479114	T;T;T;T	0.32515	2.38;2.38;2.12;1.45	5.77	5.77	0.91146	.	0.288557	0.39615	N	0.001301	T	0.27765	0.0683	L	0.50333	1.59	0.30996	N	0.720863	B	0.10296	0.003	B	0.06405	0.002	T	0.19614	-1.0300	10	0.19147	T	0.46	-13.7951	12.5972	0.56476	0.0:0.0:0.1383:0.8617	.	57	Q96SI9	STRBP_HUMAN	Q	57;57;43;57	ENSP00000415968:K57Q;ENSP00000321347:K57Q;ENSP00000354271:K43Q;ENSP00000431531:K57Q	ENSP00000321347:K57Q	K	-	1	0	STRBP	124981162	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.693000	0.54735	2.197000	0.70478	0.455000	0.32223	AAA		0.448	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
OLFML2A	169611	broad.mit.edu	37	9	127563821	127563821	+	Silent	SNP	C	C	T	rs147191015	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:127563821C>T	ENST00000373580.3	+	5	798	c.798C>T	c.(796-798)agC>agT	p.S266S	OLFML2A_ENST00000288815.5_Silent_p.S52S	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	266					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.S266S(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAAAGGAGAGCGGCAAGGGCA	0.597													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18343	0.0		0.0	False		,,,				2504	0.0				p.S266S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C798T	9						.	C		4,4402	9.9+/-24.2	0,4,2199	70.0	69.0	69.0		798	-1.1	0.0	9	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OLFML2A	NM_182487.2		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		266/653	127563821	5,13001	2203	4300	6503	126603642	SO:0001819	synonymous_variant	169611	exon5			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.798C>T	9.37:g.127563821C>T		Somatic		Capture	Illumina HiSeq	Phase_I	126603642	NM_182487	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	CCDS6857.2																																																																																				0.597	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	
WDR38	401551	broad.mit.edu	37	9	127617985	127617985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:127617985G>A	ENST00000373574.1	+	3	319	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	88					hematopoietic progenitor cell differentiation (GO:0002244)			p.R88H(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACTGTCCGCCTGTGGGAT	0.642											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	9						.						79.0	85.0	83.0					9																	127617985		2141	4243	6384	126657806	SO:0001583	missense	401551	exon3				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.263G>A	9.37:g.127617985G>A	ENSP00000362677:p.Arg88His	Somatic	1558	Capture	Illumina HiSeq	Phase_I	126657806	NM_001045476	A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528885	0.64860	.	.	ENSG00000136918	ENST00000373574	T	0.67523	-0.27	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000004	T	0.78786	0.4338	M	0.62209	1.925	0.39997	D	0.975112	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.81263	-0.1012	10	0.59425	D	0.04	.	14.4419	0.67323	0.0:0.0:1.0:0.0	.	88;77;88	B7ZW23;B7ZW24;Q5JTN6	.;.;WDR38_HUMAN	H	88	ENSP00000362677:R88H	ENSP00000362677:R88H	R	+	2	0	WDR38	126657806	0.998000	0.40836	1.000000	0.80357	0.131000	0.20780	3.325000	0.52030	2.255000	0.74692	0.462000	0.41574	CGC		0.642	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476	
RABEPK	10244	broad.mit.edu	37	9	127982924	127982924	+	Silent	SNP	C	C	T	rs1045383		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:127982924C>T	ENST00000373538.3	+	5	781	c.471C>T	c.(469-471)ggC>ggT	p.G157G	RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000259460.8_Silent_p.G106G|RABEPK_ENST00000394125.4_Silent_p.G157G|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	157					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.G157G(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TCTTTGGGGGCGGAGAGAGAG	0.597																																					p.G157G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	9						.						97.0	84.0	88.0					9																	127982924		2203	4300	6503	127022745	SO:0001819	synonymous_variant	10244	exon5			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.471C>T	9.37:g.127982924C>T		Somatic		Capture	Illumina HiSeq	Phase_I	127022745	NM_005833	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	ENST00000373538.3	37	CCDS6862.1																																																																																				0.597	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833	
MVB12B	89853	broad.mit.edu	37	9	129148859	129148859	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:129148859T>C	ENST00000361171.3	+	4	412	c.331T>C	c.(331-333)Tta>Cta	p.L111L	MVB12B_ENST00000545391.1_Silent_p.L111L|MVB12B_ENST00000436593.3_Silent_p.L96L|MVB12B_ENST00000535766.1_Silent_p.L104L	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	111	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.L111L(1)									GGGGAACGTGTTAGTAGATAT	0.453																																					p.L111L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T331C	9						.						116.0	92.0	100.0					9																	129148859		2203	4300	6503	128188680	SO:0001819	synonymous_variant	89853	exon4			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.331T>C	9.37:g.129148859T>C		Somatic		Capture	Illumina HiSeq	Phase_I	128188680	NM_001011703	Q8N6S7	Silent	SNP	ENST00000361171.3	37	CCDS35142.1																																																																																				0.453	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525	
LRSAM1	90678	broad.mit.edu	37	9	130263314	130263314	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:130263314C>T	ENST00000323301.4	+	24	2542	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Silent_p.V646V|LRSAM1_ENST00000373322.1_Silent_p.V646V|LRSAM1_ENST00000373324.4_Silent_p.V619V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	646					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V646V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGGGTGAGGTCGTCACCCCTA	0.647																																					p.V646V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1938T	9						.						72.0	73.0	73.0					9																	130263314		2203	4300	6503	129303135	SO:0001819	synonymous_variant	90678	exon25			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1938C>T	9.37:g.130263314C>T		Somatic		Capture	Illumina HiSeq	Phase_I	129303135	NM_001005373	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																				0.647	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361	
NAIF1	203245	broad.mit.edu	37	9	130828906	130828906	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:130828906C>T	ENST00000373078.4	-	1	694	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	159					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A159T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTGCGGTGGCCGAGGGTCCG	0.657																																					p.A159T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	9						.						31.0	32.0	31.0					9																	130828906		2200	4295	6495	129868727	SO:0001583	missense	203245	exon1			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.475G>A	9.37:g.130828906C>T	ENSP00000362170:p.Ala159Thr	Somatic		Capture	Illumina HiSeq	Phase_I	129868727	NM_197956	B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014427	0.54468	.	.	ENSG00000171169	ENST00000373078	.	.	.	4.91	4.91	0.64330	.	0.582793	0.18492	N	0.139611	T	0.29190	0.0726	N	0.14661	0.345	0.36044	D	0.840293	P	0.39480	0.675	B	0.34093	0.175	T	0.31668	-0.9935	9	0.20519	T	0.43	-11.498	15.6414	0.77006	0.0:1.0:0.0:0.0	.	159	Q69YI7	NAIF1_HUMAN	T	159	.	ENSP00000362170:A159T	A	-	1	0	NAIF1	129868727	0.990000	0.36364	0.989000	0.46669	0.992000	0.81027	1.630000	0.37081	2.557000	0.86248	0.561000	0.74099	GCC		0.657	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956	
DNM1	1759	broad.mit.edu	37	9	130982522	130982522	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:130982522G>A	ENST00000372923.3	+	6	843	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	DNM1_ENST00000393594.3_Missense_Mutation_p.A251T|DNM1_ENST00000341179.7_Missense_Mutation_p.A251T|DNM1_ENST00000486160.1_Missense_Mutation_p.A251T|DNM1_ENST00000475805.1_Missense_Mutation_p.A251T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	251	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.A251T(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CATTACCGCCGCCTTGGCTGC	0.542																																					p.A251T	GBM(113;146 1575 2722 28670 29921)											.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G751A	9						.						188.0	172.0	178.0					9																	130982522		2203	4300	6503	130022343	SO:0001583	missense	1759	exon6			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.751G>A	9.37:g.130982522G>A	ENSP00000362014:p.Ala251Thr	Somatic		Capture	Illumina HiSeq	Phase_I	130022343	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502424	0.85176	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.71	5.71	0.89125	Dynamin central domain (1);	0.099589	0.64402	D	0.000001	D	0.90854	0.7127	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.92020	0.5625	10	0.87932	D	0	-14.6002	19.8432	0.96699	0.0:0.0:1.0:0.0	.	251;251;251	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	T	251;251;251;246;251;251	ENSP00000419225:A251T;ENSP00000345680:A251T;ENSP00000362014:A251T;ENSP00000377219:A251T;ENSP00000420045:A251T	ENSP00000345680:A251T	A	+	1	0	DNM1	130022343	1.000000	0.71417	0.956000	0.39512	0.194000	0.23727	9.835000	0.99442	2.700000	0.92200	0.462000	0.41574	GCC		0.542	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
SWI5	375757	broad.mit.edu	37	9	131038453	131038453	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:131038453G>T	ENST00000320188.5	+	1	29	c.29G>T	c.(28-30)tGg>tTg	p.W10L	GOLGA2_ENST00000421699.2_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000495313.1_Intron|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	10					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.W10L(1)									AGGGACCTGTGGCGTCACAAC	0.642																																					p.W10L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G29T	9						.						40.0	48.0	46.0					9																	131038453		2031	4133	6164	130078274	SO:0001583	missense	375757	exon1			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.29G>T	9.37:g.131038453G>T	ENSP00000316609:p.Trp10Leu	Somatic		Capture	Illumina HiSeq	Phase_I	130078274	NM_001040011	Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513039	0.44660	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.3	2.34	0.29019	.	.	.	.	.	T	0.21103	0.0508	N	0.19112	0.55	0.09310	N	1	P	0.35011	0.48	B	0.30943	0.122	T	0.14282	-1.0478	8	0.87932	D	0	.	6.9625	0.24605	0.0994:0.1749:0.7257:0.0	.	10	Q1ZZU3	SWI5_HUMAN	L	10	.	ENSP00000316609:W10L	W	+	2	0	SWI5	130078274	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.018000	0.12568	1.011000	0.39340	0.557000	0.71058	TGG		0.642	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011	
TRUB2	26995	broad.mit.edu	37	9	131072119	131072119	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:131072119G>A	ENST00000372890.4	-	8	1039	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	TRUB2_ENST00000546104.1_Missense_Mutation_p.R180W|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	236					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.R236W(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ACCAACTTCCGCAGCTCTTTC	0.562																																					p.R236W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706T	9						.						117.0	93.0	101.0					9																	131072119		2203	4300	6503	130111940	SO:0001583	missense	26995	exon8			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.706C>T	9.37:g.131072119G>A	ENSP00000361982:p.Arg236Trp	Somatic		Capture	Illumina HiSeq	Phase_I	130111940	NM_015679	B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578927	0.46006	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.35605	1.3;1.3	5.56	2.6	0.31112	Pseudouridine synthase, catalytic domain (1);	0.054176	0.85682	D	0.000000	T	0.68201	0.2975	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76465	-0.2949	10	0.87932	D	0	-15.5783	14.5569	0.68106	0.0:0.0:0.6172:0.3828	.	236	O95900	TRUB2_HUMAN	W	236;180	ENSP00000361982:R236W;ENSP00000438084:R180W	ENSP00000361982:R236W	R	-	1	2	TRUB2	130111940	1.000000	0.71417	0.756000	0.31282	0.062000	0.15995	2.997000	0.49457	0.248000	0.21435	-0.314000	0.08810	CGG		0.562	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679	
FNBP1	23048	broad.mit.edu	37	9	132687349	132687349	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:132687349G>A	ENST00000446176.2	-	9	1063	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	FNBP1_ENST00000420781.1_Missense_Mutation_p.R293C|FNBP1_ENST00000355681.3_Missense_Mutation_p.R293C|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R293C(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GACACAGTGCGCTTCATTGGC	0.423			T	MLL	AML																																p.R293C			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877T	9						.						147.0	137.0	140.0					9																	132687349		1882	4120	6002	131727170	SO:0001583	missense	23048	exon9			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.877C>T	9.37:g.132687349G>A	ENSP00000413625:p.Arg293Cys	Somatic		Capture	Illumina HiSeq	Phase_I	131727170	NM_015033	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752514	0.49362	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.51071	0.73;0.72;0.78	5.34	5.34	0.76211	.	0.101754	0.64402	D	0.000004	T	0.68366	0.2993	M	0.76574	2.34	0.80722	D	1	P;D;P;D;D;P;D	0.89917	0.796;1.0;0.943;0.967;1.0;0.5;1.0	B;D;B;P;D;B;D	0.91635	0.139;0.999;0.225;0.584;0.999;0.066;0.972	T	0.70916	-0.4742	10	0.66056	D	0.02	-25.4201	14.8855	0.70564	0.0:0.0:0.8563:0.1437	.	293;293;293;293;254;293;293	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	C	293	ENSP00000413625:R293C;ENSP00000407548:R293C;ENSP00000347907:R293C	ENSP00000347907:R293C	R	-	1	0	FNBP1	131727170	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.818000	0.55678	2.655000	0.90218	0.462000	0.41574	CGC		0.423	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		
FNBP1	23048	broad.mit.edu	37	9	132740854	132740854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:132740854C>T	ENST00000446176.2	-	4	421	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FNBP1_ENST00000420781.1_Missense_Mutation_p.E79K|FNBP1_ENST00000355681.3_Missense_Mutation_p.E79K	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	79	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E79K(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCATTCATTTCGTTCAGGTTG	0.433			T	MLL	AML																																p.E79K			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	9						.						128.0	121.0	123.0					9																	132740854		1991	4179	6170	131780675	SO:0001583	missense	23048	exon4			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.235G>A	9.37:g.132740854C>T	ENSP00000413625:p.Glu79Lys	Somatic		Capture	Illumina HiSeq	Phase_I	131780675	NM_015033	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918968	0.92249	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.21361	2.01;2.01;2.01	5.87	5.87	0.94306	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.74348	0.983;0.962;0.983;0.982;0.983	T	0.63902	-0.6532	10	0.87932	D	0	-38.2741	19.267	0.93990	0.0:1.0:0.0:0.0	.	79;79;79;79;79	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.;.;.;.;FNBP1_HUMAN	K	79	ENSP00000413625:E79K;ENSP00000407548:E79K;ENSP00000347907:E79K	ENSP00000347907:E79K	E	-	1	0	FNBP1	131780675	1.000000	0.71417	0.142000	0.22268	0.509000	0.34042	7.020000	0.76419	2.788000	0.95919	0.650000	0.86243	GAA		0.433	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		
FAM78A	286336	broad.mit.edu	37	9	134151558	134151558	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:134151558A>G	ENST00000372271.3	-	1	376	c.9T>C	c.(7-9)ggT>ggC	p.G3G		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	3								p.G3G(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACAGAAAAAACCAGGCATTG	0.527																																					p.G3G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9C	9						.						41.0	41.0	41.0					9																	134151558		2202	4300	6502	133141379	SO:0001819	synonymous_variant	286336	exon1			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.9T>C	9.37:g.134151558A>G		Somatic		Capture	Illumina HiSeq	Phase_I	133141379	NM_033387	Q86VQ9|Q9H7P4	Silent	SNP	ENST00000372271.3	37	CCDS6941.2																																																																																				0.527	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387	
POMT1	10585	broad.mit.edu	37	9	134394819	134394819	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:134394819G>A	ENST00000372228.3	+	16	1775	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	POMT1_ENST00000354713.4_Silent_p.A480A|POMT1_ENST00000341012.7_Silent_p.A456A|POMT1_ENST00000541219.1_Silent_p.A288A|POMT1_ENST00000404875.2_Silent_p.A393A|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Silent_p.A510A|POMT1_ENST00000419118.2_Silent_p.A358A|POMT1_ENST00000402686.3_Silent_p.A510A|RP11-334J6.6_ENST00000415423.1_RNA	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	532					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.A532A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACTCACCTGCGCAGGTGGACG	0.597																																					p.A532A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1596A	9						.						49.0	40.0	43.0					9																	134394819		2128	4152	6280	133384640	SO:0001819	synonymous_variant	10585	exon16			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1596G>A	9.37:g.134394819G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133384640	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	CCDS6943.1																																																																																				0.597	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	
MED27	9442	broad.mit.edu	37	9	134769350	134769350	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:134769350G>A	ENST00000292035.5	-	5	666	c.603C>T	c.(601-603)atC>atT	p.I201I	MED27_ENST00000357028.2_Intron	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	201					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.I201I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GCATGACGACGATCACTTTCA	0.453																																					p.I201I	Colon(41;784 923 6932 42329 52483)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	9						.						192.0	140.0	158.0					9																	134769350		2203	4300	6503	133759171	SO:0001819	synonymous_variant	9442	exon5			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.603C>T	9.37:g.134769350G>A		Somatic		Capture	Illumina HiSeq	Phase_I	133759171	NM_004269	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	CCDS6945.1																																																																																				0.453	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269	
SETX	23064	broad.mit.edu	37	9	135152522	135152522	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:135152522C>T	ENST00000224140.5	-	22	7042	c.6860G>A	c.(6859-6861)cGa>cAa	p.R2287Q	SETX_ENST00000477049.1_5'Flank|SETX_ENST00000372169.2_Missense_Mutation_p.R2287Q|SETX_ENST00000393220.1_Missense_Mutation_p.R2287Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2287					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R2287Q(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGATGAACATCGAATGGCTTC	0.358																																					p.R2287Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G6860A	9						.						132.0	114.0	120.0					9																	135152522		2203	4300	6503	134142343	SO:0001583	missense	23064	exon22			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6860G>A	9.37:g.135152522C>T	ENSP00000224140:p.Arg2287Gln	Somatic		Capture	Illumina HiSeq	Phase_I	134142343	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317030	0.95682	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.96137	0.8741	M	0.75264	2.295	0.51012	D	0.999903	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.87578	0.956;0.997;0.998	D	0.95608	0.8669	10	0.66056	D	0.02	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	2287;2287;2287	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	2287;529;2287;2287	ENSP00000224140:R2287Q;ENSP00000409143:R529Q;ENSP00000361242:R2287Q;ENSP00000376913:R2287Q	ENSP00000224140:R2287Q	R	-	2	0	SETX	134142343	0.997000	0.39634	0.618000	0.29105	0.016000	0.09150	5.994000	0.70623	2.941000	0.99782	0.655000	0.94253	CGA		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
TTF1	7270	broad.mit.edu	37	9	135251365	135251365	+	Silent	SNP	C	C	T	rs111275070|rs574795684	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:135251365C>T	ENST00000334270.2	-	11	2694	c.2655G>A	c.(2653-2655)gcG>gcA	p.A885A	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	885			A -> V (in dbSNP:rs1752676).		chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A885A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ccatgcatggcgcctggccTT	0.512													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.0				p.A885A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2655A	9						.		,	1,4405	2.1+/-5.4	0,1,2202	67.0	65.0	66.0		1110,2655	-0.0	0.0	9	dbSNP_132	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TTF1	NM_001205296.1,NM_007344.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	370/391,885/906	135251365	1,13005	2203	4300	6503	134241186	SO:0001819	synonymous_variant	7270	exon11			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2655G>A	9.37:g.135251365C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134241186	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	CCDS6948.1																																																																																				0.512	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344	
AK8	158067	broad.mit.edu	37	9	135702409	135702409	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:135702409C>T	ENST00000298545.3	-	8	1110	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	197	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E197K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATTTCAGATTCGGGTGGCCAG	0.542																																					p.E197K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G589A	9						.						166.0	160.0	162.0					9																	135702409		2203	4300	6503	134692230	SO:0001583	missense	158067	exon8			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.589G>A	9.37:g.135702409C>T	ENSP00000298545:p.Glu197Lys	Somatic		Capture	Illumina HiSeq	Phase_I	134692230	NM_152572	A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059349	0.55325	.	.	ENSG00000165695	ENST00000298545	T	0.66815	-0.23	5.34	5.34	0.76211	Adenylate kinase, active site lid domain (1);	0.161652	0.52532	D	0.000070	T	0.66177	0.2763	M	0.62266	1.93	0.35699	D	0.815498	P	0.47841	0.901	B	0.41894	0.369	T	0.73104	-0.4088	10	0.30078	T	0.28	-26.0053	18.0257	0.89268	0.0:1.0:0.0:0.0	.	197	Q96MA6	KAD8_HUMAN	K	197	ENSP00000298545:E197K	ENSP00000298545:E197K	E	-	1	0	AK8	134692230	0.952000	0.32445	0.050000	0.19076	0.735000	0.41995	2.319000	0.43788	2.497000	0.84241	0.455000	0.32223	GAA		0.542	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	
SURF6	6838	broad.mit.edu	37	9	136200594	136200594	+	Missense_Mutation	SNP	C	C	T	rs151083423	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:136200594C>T	ENST00000372022.4	-	3	618	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SURF6_ENST00000468290.1_5'Flank	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	118					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R118Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CAGTCGCTGTCGCAGAACATC	0.637													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18269	0.0		0.0	False		,,,				2504	0.0				p.R118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	9						.	C	GLN/ARG	48,4358	50.2+/-85.5	0,48,2155	56.0	51.0	53.0		353	3.7	0.5	9	dbSNP_134	53	0,8600		0,0,4300	yes	missense	SURF6	NM_006753.4	43	0,48,6455	TT,TC,CC		0.0,1.0894,0.3691	probably-damaging	118/362	136200594	48,12958	2203	4300	6503	135190415	SO:0001583	missense	6838	exon3			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.353G>A	9.37:g.136200594C>T	ENSP00000361092:p.Arg118Gln	Somatic		Capture	Illumina HiSeq	Phase_I	135190415	NM_006753	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	CCDS6962.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	26.6	4.748664	0.89753	0.010894	0.0	ENSG00000148296	ENST00000372022	T	0.24538	1.85	4.62	3.71	0.42584	.	0.059729	0.64402	D	0.000004	T	0.35128	0.0921	M	0.77103	2.36	0.53688	D	0.999972	D	0.69078	0.997	P	0.56916	0.809	T	0.35525	-0.9785	10	0.45353	T	0.12	-7.337	12.176	0.54186	0.0:0.9143:0.0:0.0857	.	118	O75683	SURF6_HUMAN	Q	118	ENSP00000361092:R118Q	ENSP00000361092:R118Q	R	-	2	0	SURF6	135190415	0.999000	0.42202	0.502000	0.27614	0.816000	0.46133	6.504000	0.73704	2.107000	0.64212	0.655000	0.94253	CGA		0.637	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753	
SURF4	6836	broad.mit.edu	37	9	136234204	136234204	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:136234204C>T	ENST00000371989.3	-	2	295	c.166G>A	c.(166-168)Gac>Aac	p.D56N	SURF4_ENST00000485435.2_Missense_Mutation_p.D56N|SURF4_ENST00000371991.3_Missense_Mutation_p.D56N|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Missense_Mutation_p.D56N	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	56					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D56N(1)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CAGGTGGTGTCGATGTAGTCG	0.612																																					p.D56N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166A	9						.						117.0	92.0	101.0					9																	136234204		2203	4300	6503	135224025	SO:0001583	missense	6836	exon2				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.166G>A	9.37:g.136234204C>T	ENSP00000361057:p.Asp56Asn	Somatic		Capture	Illumina HiSeq	Phase_I	135224025	NM_033161	B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139768	0.56936	.	.	ENSG00000148248	ENST00000371989;ENST00000485435;ENST00000545297;ENST00000541390;ENST00000371991	.	.	.	4.73	4.73	0.59995	.	0.053414	0.64402	D	0.000001	T	0.36690	0.0976	N	0.11818	0.18	0.52501	D	0.999954	B;B;B;B	0.14012	0.009;0.001;0.003;0.0	B;B;B;B	0.15052	0.012;0.005;0.006;0.003	T	0.19031	-1.0318	9	0.27082	T	0.32	-15.1948	10.3669	0.44030	0.0:0.9106:0.0:0.0894	.	56;47;56;56	B7Z6A4;B7Z7A8;O15260-2;O15260	.;.;.;SURF4_HUMAN	N	56;56;56;47;56	.	ENSP00000361057:D56N	D	-	1	0	SURF4	135224025	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	3.917000	0.56424	2.172000	0.68678	0.655000	0.94253	GAC		0.612	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161	
RXRA	6256	broad.mit.edu	37	9	137328399	137328399	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:137328399G>A	ENST00000481739.1	+	10	1380	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	RXRA_ENST00000540193.1_Missense_Mutation_p.G346E|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	443	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.G443E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	AAGCTCATCGGGGACACACCC	0.592																																					p.G443E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1328A	9						.						144.0	125.0	132.0					9																	137328399		2203	4300	6503	136468220	SO:0001583	missense	6256	exon10			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1328G>A	9.37:g.137328399G>A	ENSP00000419692:p.Gly443Glu	Somatic		Capture	Illumina HiSeq	Phase_I	136468220	NM_002957	B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004669	0.93287	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.56776	0.44;0.44	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.98048	4.135	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.90149	0.4219	10	0.87932	D	0	.	17.7817	0.88526	0.0:0.0:1.0:0.0	.	443	P19793	RXRA_HUMAN	E	443;346	ENSP00000419692:G443E;ENSP00000442123:G346E	ENSP00000419692:G443E	G	+	2	0	RXRA	136468220	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	9.494000	0.97962	2.193000	0.70182	0.591000	0.81541	GGG		0.592	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957	
FCN2	2220	broad.mit.edu	37	9	137777091	137777091	+	Missense_Mutation	SNP	G	G	A	rs372229544		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:137777091G>A	ENST00000291744.6	+	5	318	c.308G>A	c.(307-309)cGt>cAt	p.R103H	FCN2_ENST00000350339.2_Missense_Mutation_p.R65H	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	103	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.R103H(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCAGGCCCGCGTACCTGCAAG	0.662																																					p.R103H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	9						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	59.0	57.0	57.0		308,194	0.6	0.0	9		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCN2	NM_004108.2,NM_015837.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	103/314,65/276	137777091	1,13005	2203	4300	6503	136916912	SO:0001583	missense	2220	exon5			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.308G>A	9.37:g.137777091G>A	ENSP00000291744:p.Arg103His	Somatic		Capture	Illumina HiSeq	Phase_I	136916912	NM_004108	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	4.420	0.077609	0.08485	0.0	1.16E-4	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.79454	-1.27;-1.27	3.59	0.622	0.17648	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.411062	0.16875	U	0.195959	T	0.75583	0.3869	M	0.86740	2.835	0.09310	N	1	B;B	0.25521	0.128;0.096	B;B	0.21151	0.026;0.033	T	0.68420	-0.5413	10	0.66056	D	0.02	.	5.8404	0.18630	0.4914:0.0:0.5086:0.0	.	65;103	Q15485-2;Q15485	.;FCN2_HUMAN	H	65;103	ENSP00000291741:R65H;ENSP00000291744:R103H	ENSP00000291744:R103H	R	+	2	0	FCN2	136916912	0.005000	0.15991	0.018000	0.16275	0.002000	0.02628	0.173000	0.16724	0.061000	0.16311	-0.368000	0.07277	CGT		0.662	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108	
PMPCA	23203	broad.mit.edu	37	9	139306970	139306970	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:139306970A>C	ENST00000371717.3	+	3	312	c.303A>C	c.(301-303)gaA>gaC	p.E101D	SDCCAG3_ENST00000357365.3_5'Flank|PMPCA_ENST00000399219.3_Missense_Mutation_p.K2T|SDCCAG3_ENST00000371725.3_5'Flank|SDCCAG3_ENST00000298537.7_5'Flank|PMPCA_ENST00000371720.1_Missense_Mutation_p.E101D	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	101					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E101D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CGAGATATGAAGCGAAATACC	0.299																																					p.E101D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A303C	9						.						86.0	85.0	86.0					9																	139306970		2202	4297	6499	138426791	SO:0001583	missense	23203	exon3			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.303A>C	9.37:g.139306970A>C	ENSP00000360782:p.Glu101Asp	Somatic		Capture	Illumina HiSeq	Phase_I	138426791	NM_015160	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	CCDS35180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486453|4.486453	0.84854|0.84854	.|.	.|.	ENSG00000165688|ENSG00000165688	ENST00000371720;ENST00000371717|ENST00000399219	T;T|T	0.24908|0.14022	1.83;1.83|2.54	4.96|4.96	4.96|4.96	0.65561|0.65561	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.31765|0.31765	0.0807|0.0807	M|M	0.87269|0.87269	2.87|2.87	0.25586|0.25586	N|N	0.986742|0.986742	D;D|D	0.89917|0.63880	1.0;1.0|0.993	D;D|P	0.97110|0.53266	0.999;1.0|0.722	T|T	0.33317|0.33317	-0.9873|-0.9873	10|9	0.87932|0.62326	D|D	0|0.03	.|.	8.7661|8.7661	0.34704|0.34704	0.9148:0.0:0.0852:0.0|0.9148:0.0:0.0852:0.0	.|.	101;101|2	B4DRK5;Q10713|B4DKL3	.;MPPA_HUMAN|.	D|T	101|2	ENSP00000360785:E101D;ENSP00000360782:E101D|ENSP00000416702:K2T	ENSP00000360782:E101D|ENSP00000416702:K2T	E|K	+|+	3|2	2|0	PMPCA|PMPCA	138426791|138426791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	4.287000|4.287000	0.59001|0.59001	1.966000|1.966000	0.57179|0.57179	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.299	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160	
SEC16A	9919	broad.mit.edu	37	9	139350197	139350197	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:139350197G>A	ENST00000371706.3	-	18	5212	c.5179C>T	c.(5179-5181)Cct>Tct	p.P1727S	SEC16A_ENST00000431893.2_Missense_Mutation_p.P1727S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1727S|SEC16A_ENST00000313050.7_Missense_Mutation_p.P1905S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1727					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.P1905S(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGAGTGCCAGGACACTGCTGC	0.657																																					p.P1905S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5713T	9						.						22.0	28.0	26.0					9																	139350197		2123	4214	6337	138470018	SO:0001583	missense	9919	exon20			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5179C>T	9.37:g.139350197G>A	ENSP00000360771:p.Pro1727Ser	Somatic		Capture	Illumina HiSeq	Phase_I	138470018	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	4.003	-0.002242	0.07819	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.39997	2.04;1.05;1.64;2.04;2.04;2.04	4.9	3.99	0.46301	.	0.329483	0.31784	N	0.007075	T	0.43545	0.1252	M	0.68952	2.095	0.18873	N	0.999988	B;P;B;P	0.40875	0.267;0.726;0.296;0.731	B;B;B;B	0.42827	0.115;0.399;0.125;0.225	T	0.30149	-0.9988	10	0.18710	T	0.47	-8.9942	13.0611	0.59008	0.0:0.3069:0.693:0.0	.	1905;1727;1727;1295	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	S	1905;299;627;1727;1727;1727;1295	ENSP00000325827:P1905S;ENSP00000277537:P299S;ENSP00000403525:P627S;ENSP00000360771:P1727S;ENSP00000290037:P1727S;ENSP00000387583:P1727S	ENSP00000277537:P299S	P	-	1	0	SEC16A	138470018	0.931000	0.31567	0.008000	0.14137	0.032000	0.12392	1.686000	0.37669	1.136000	0.42199	0.591000	0.81541	CCT		0.657	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
DOCK8	81704	broad.mit.edu	37	9	414884	414884	+	Silent	SNP	C	C	T	rs372601035		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:414884C>T	ENST00000453981.1	+	29	3745	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I	DOCK8_ENST00000469391.1_Silent_p.I1111I|DOCK8_ENST00000432829.2_Silent_p.I1143I|DOCK8_ENST00000382329.1_Silent_p.I678I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1211					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I1143I(3)|p.I1211I(2)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGGTCAAAATCGCCGCCCTTT	0.468																																					p.I1111I												.	.	5	Substitution - coding silent(5)	prostate(2)|skin(2)|large_intestine(1)	c.C3333T	9						.	C	,,	0,4406		0,0,2203	234.0	214.0	221.0		3333,3429,3633	-12.0	0.1	9		221	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	1111/2000,1143/2032,1211/2100	414884	2,13004	2203	4300	6503	404884	SO:0001819	synonymous_variant	81704	exon27			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3633C>T	9.37:g.414884C>T		Somatic		Capture	Illumina HiSeq	Phase_I	404884	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
DMRT3	58524	broad.mit.edu	37	9	990942	990942	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:990942C>T	ENST00000190165.2	+	2	1394	c.1356C>T	c.(1354-1356)acC>acT	p.T452T		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	452					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T452T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCATTTACACCGAGGACGACT	0.532																																					p.T452T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1356T	9						.						95.0	94.0	94.0					9																	990942		2203	4300	6503	980942	SO:0001819	synonymous_variant	58524	exon2			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1356C>T	9.37:g.990942C>T		Somatic		Capture	Illumina HiSeq	Phase_I	980942	NM_021240	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	CCDS6443.1																																																																																				0.532	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
KIAA2026	158358	broad.mit.edu	37	9	5968511	5968511	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:5968511G>A	ENST00000399933.3	-	3	1719	c.1720C>T	c.(1720-1722)Cgc>Tgc	p.R574C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R574C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	574								p.R574C(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAAGGCCTGCGAATTCTAATT	0.368																																					p.R574C												.	.	1	Substitution - Missense(1)	endometrium(1)	c.C1720T	9						.						89.0	83.0	85.0					9																	5968511		1820	4077	5897	5958511	SO:0001583	missense	158358	exon3			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1720C>T	9.37:g.5968511G>A	ENSP00000382815:p.Arg574Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5958511	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	7.526	0.657668	0.14645	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.91124	-2.79;-2.79;-2.79	5.86	3.06	0.35304	.	1.199980	0.06471	N	0.731082	T	0.82047	0.4952	N	0.08118	0	0.22610	N	0.998935	B	0.10296	0.003	B	0.04013	0.001	T	0.68401	-0.5418	10	0.46703	T	0.11	.	10.2771	0.43517	0.2794:0.0:0.7206:0.0	.	574	Q5HYC2	K2026_HUMAN	C	574;574;507	ENSP00000382815:R574C;ENSP00000370870:R574C;ENSP00000444993:R507C	ENSP00000370870:R574C	R	-	1	0	KIAA2026	5958511	0.614000	0.27017	0.951000	0.38953	0.915000	0.54546	1.667000	0.37471	0.401000	0.25424	0.591000	0.81541	CGC		0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
PTPRD	5789	broad.mit.edu	37	9	8492898	8492898	+	Missense_Mutation	SNP	G	G	A	rs377557345		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:8492898G>A	ENST00000381196.4	-	24	2974	c.2431C>T	c.(2431-2433)Cgc>Tgc	p.R811C	PTPRD_ENST00000540109.1_Missense_Mutation_p.R811C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R789C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R811C|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R798C|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	811	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R811C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCTTGCTGCGAGCACCATCT	0.458										TSP Lung(15;0.13)																											p.R811C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2431T	9						.	G	,,CYS/ARG,,,	0,4406		0,0,2203	233.0	188.0	203.0		,,2431,,,	5.4	1.0	9		203	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron,intron,intron	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,180,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,probably-damaging,,,	,,811/1913,,,	8492898	1,13005	2203	4300	6503	8482898	SO:0001583	missense	5789	exon27			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2431C>T	9.37:g.8492898G>A	ENSP00000370593:p.Arg811Cys	Somatic		Capture	Illumina HiSeq	Phase_I	8482898	NM_002839	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082958	0.94050	0.0	1.16E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.54479	0.57;0.57;0.57;2.28;0.57	5.42	5.42	0.78866	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.87342	0.2332	9	.	.	.	.	19.1975	0.93695	0.0:0.0:1.0:0.0	.	798;811;811	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	C	811;811;798;789;811	ENSP00000370593:R811C;ENSP00000348812:R811C;ENSP00000353187:R798C;ENSP00000351293:R789C;ENSP00000438164:R811C	.	R	-	1	0	PTPRD	8482898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.542000	0.85734	0.484000	0.47621	CGC		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPRD	5789	broad.mit.edu	37	9	8636706	8636706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:8636706C>A	ENST00000381196.4	-	10	746	c.203G>T	c.(202-204)aGa>aTa	p.R68I	PTPRD_ENST00000540109.1_Missense_Mutation_p.R68I|PTPRD_ENST00000358503.5_Missense_Mutation_p.R68I|PTPRD_ENST00000356435.5_Missense_Mutation_p.R68I|PTPRD_ENST00000397606.3_Missense_Mutation_p.R68I|PTPRD_ENST00000463477.1_Missense_Mutation_p.R68I|PTPRD_ENST00000397611.3_Missense_Mutation_p.R68I|PTPRD_ENST00000537002.1_Missense_Mutation_p.R68I|PTPRD_ENST00000360074.4_Missense_Mutation_p.R68I|PTPRD_ENST00000355233.5_Missense_Mutation_p.R68I|PTPRD_ENST00000486161.1_Missense_Mutation_p.R68I|PTPRD_ENST00000397617.3_Missense_Mutation_p.R68I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	68	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R68I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TACCTCAAATCTCTGATTGCT	0.438										TSP Lung(15;0.13)																											p.R68I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203T	9						.						145.0	131.0	136.0					9																	8636706		2203	4300	6503	8626706	SO:0001583	missense	5789	exon2			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.203G>T	9.37:g.8636706C>A	ENSP00000370593:p.Arg68Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8626706	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066208	0.93898	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.57	5.57	0.84162	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;P;D;D;D;D	0.89917	0.999;0.994;0.999;1.0;1.0;0.94;0.999;0.999;0.996;0.989	D;D;D;D;D;P;D;D;D;D	0.91635	0.998;0.955;0.999;0.999;0.999;0.625;0.999;0.988;0.994;0.964	D	0.87062	0.2154	9	.	.	.	.	19.5464	0.95299	0.0:1.0:0.0:0.0	.	68;68;68;68;68;68;68;68;68;68	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	68	ENSP00000370593:R68I;ENSP00000348812:R68I;ENSP00000353187:R68I;ENSP00000351293:R68I;ENSP00000347373:R68I;ENSP00000380741:R68I;ENSP00000380735:R68I;ENSP00000440515:R68I;ENSP00000438164:R68I;ENSP00000417093:R68I;ENSP00000380731:R68I;ENSP00000417661:R68I;ENSP00000417890:R68I	.	R	-	2	0	PTPRD	8626706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.615000	0.88500	0.557000	0.71058	AGA		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
FREM1	158326	broad.mit.edu	37	9	14740164	14740164	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:14740164C>T	ENST00000380880.3	-	36	7106	c.6323G>A	c.(6322-6324)aGa>aAa	p.R2108K	FREM1_ENST00000422223.2_Missense_Mutation_p.R2108K|FREM1_ENST00000380894.1_Missense_Mutation_p.R644K|FREM1_ENST00000380881.4_Missense_Mutation_p.R2109K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2108	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R2109K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAGGACTTTCTCCCACCAAT	0.502																																					p.R2108K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6323A	9						.						108.0	109.0	109.0					9																	14740164		2012	4176	6188	14730164	SO:0001583	missense	158326	exon37			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6323G>A	9.37:g.14740164C>T	ENSP00000370262:p.Arg2108Lys	Somatic		Capture	Illumina HiSeq	Phase_I	14730164	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060654	0.76074	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.83	4.94	0.65067	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.042467	0.85682	D	0.000000	T	0.18509	0.0444	L	0.33792	1.035	0.44092	D	0.996852	P;P	0.49447	0.924;0.924	P;P	0.49887	0.52;0.625	T	0.04078	-1.0979	10	0.16420	T	0.52	-13.21	12.6877	0.56956	0.0:0.864:0.0:0.136	.	2108;644	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	K	2109;2108;644;2108	ENSP00000370263:R2109K;ENSP00000412940:R2108K;ENSP00000370278:R644K;ENSP00000370262:R2108K	ENSP00000370262:R2108K	R	-	2	0	FREM1	14730164	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.156000	0.64905	1.480000	0.48289	0.655000	0.94253	AGA		0.502	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14747388	14747388	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:14747388A>C	ENST00000380880.3	-	33	6666	c.5883T>G	c.(5881-5883)agT>agG	p.S1961R	FREM1_ENST00000422223.2_Missense_Mutation_p.S1961R|FREM1_ENST00000380894.1_Missense_Mutation_p.S497R|FREM1_ENST00000380881.4_Missense_Mutation_p.S1962R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1961					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.S1962R(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTTGGGAAACTGTCATCCT	0.393																																					p.S1961R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5883G	9						.						148.0	132.0	137.0					9																	14747388		1923	4138	6061	14737388	SO:0001583	missense	158326	exon34			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5883T>G	9.37:g.14747388A>C	ENSP00000370262:p.Ser1961Arg	Somatic		Capture	Illumina HiSeq	Phase_I	14737388	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	a	6.200	0.405003	0.11754	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.12984	2.89;2.89;2.63;2.89	5.64	-8.98	0.00754	.	0.570672	0.19445	N	0.114089	T	0.04543	0.0124	N	0.16478	0.41	0.09310	N	0.999997	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.30937	-0.9961	10	0.16420	T	0.52	-2.6986	5.9181	0.19065	0.136:0.1032:0.5271:0.2337	.	1961;497	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	R	1962;1961;497;1961	ENSP00000370263:S1962R;ENSP00000412940:S1961R;ENSP00000370278:S497R;ENSP00000370262:S1961R	ENSP00000370262:S1961R	S	-	3	2	FREM1	14737388	0.936000	0.31750	0.008000	0.14137	0.056000	0.15407	0.043000	0.13971	-1.171000	0.02765	-0.253000	0.11424	AGT		0.393	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14784562	14784562	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:14784562C>T	ENST00000380880.3	-	24	5031	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T	FREM1_ENST00000422223.2_Silent_p.T1416T|FREM1_ENST00000380881.4_Silent_p.T1417T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1416					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.T1417T(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCCAGGAGCGTGGTGGTTG	0.468																																					p.T1416T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4248A	9						.						84.0	84.0	84.0					9																	14784562		2007	4167	6174	14774562	SO:0001819	synonymous_variant	158326	exon25			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4248G>A	9.37:g.14784562C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14774562	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
BNC2	54796	broad.mit.edu	37	9	16436658	16436658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:16436658G>A	ENST00000380672.4	-	6	1591	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	BNC2_ENST00000545497.1_Missense_Mutation_p.R417W|BNC2_ENST00000380666.2_Missense_Mutation_p.R512W|BNC2_ENST00000380667.2_Missense_Mutation_p.R445W	NM_017637.5	NP_060107.3			basonuclin 2									p.R512W(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAGGTGGCCCGAATTAAATCT	0.522																																					p.R512W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1534T	9						.						80.0	83.0	82.0					9																	16436658		2203	4300	6503	16426658	SO:0001583	missense	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1534C>T	9.37:g.16436658G>A	ENSP00000370047:p.Arg512Trp	Somatic		Capture	Illumina HiSeq	Phase_I	16426658	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789847	0.70337	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.34472	1.36;1.36;1.37;1.37;1.36	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.967;0.996;0.996;0.977;0.998;0.985;0.996;0.998;0.996	T	0.55541	-0.8125	10	0.72032	D	0.01	-13.2241	20.2422	0.98381	0.0:0.0:1.0:0.0	.	417;445;512;338;512;469;512;417;277	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	W	512;469;445;417;338;512;512	ENSP00000370047:R512W;ENSP00000408370:R469W;ENSP00000370042:R445W;ENSP00000444640:R417W;ENSP00000370041:R512W	ENSP00000370041:R512W	R	-	1	2	BNC2	16426658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.495000	0.73665	2.782000	0.95742	0.655000	0.94253	CGG		0.522	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
ADAMTSL1	92949	broad.mit.edu	37	9	18474288	18474288	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:18474288C>T	ENST00000380548.4	+	1	397	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L20F|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.L20F|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.L20F|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L20F|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L20F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	20						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L20F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCTTTCCTGCTCCTGGTAAA	0.498																																					p.L20F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C58T	9						.						199.0	164.0	176.0					9																	18474288		2203	4300	6503	18464288	SO:0001583	missense	92949	exon1			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.58C>T	9.37:g.18474288C>T	ENSP00000369921:p.Leu20Phe	Somatic		Capture	Illumina HiSeq	Phase_I	18464288	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006615	0.35415	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.67865	-0.07;-0.06;-0.22;-0.29;-0.11;-0.1	5.84	4.89	0.63831	.	.	.	.	.	T	0.59891	0.2227	N	0.14661	0.345	0.80722	D	1	P;P	0.46706	0.883;0.527	P;B	0.49752	0.621;0.166	T	0.61695	-0.7010	9	0.40728	T	0.16	.	16.3032	0.82832	0.0:0.7636:0.2364:0.0	.	20;20	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	F	20	ENSP00000369921:L20F;ENSP00000327887:L20F;ENSP00000401157:L20F;ENSP00000369944:L20F;ENSP00000369940:L20F;ENSP00000276935:L20F	ENSP00000276935:L20F	L	+	1	0	ADAMTSL1	18464288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.626000	0.24492	2.751000	0.94390	0.655000	0.94253	CTC		0.498	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
ADAMTSL1	92949	broad.mit.edu	37	9	18753454	18753454	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:18753454C>T	ENST00000380548.4	+	16	2504	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	722	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A722V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACGGTGCAAGCTTGTAACCGC	0.527																																					p.A722V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2165T	9						.						41.0	42.0	42.0					9																	18753454		2052	4207	6259	18743454	SO:0001583	missense	92949	exon16			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2165C>T	9.37:g.18753454C>T	ENSP00000369921:p.Ala722Val	Somatic		Capture	Illumina HiSeq	Phase_I	18743454	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637221	0.67130	.	.	ENSG00000178031	ENST00000380548	T	0.60920	0.15	5.6	4.7	0.59300	.	0.379473	0.08080	U	1.000000	T	0.50939	0.1645	L	0.28458	0.855	0.80722	D	1	B	0.14012	0.009	B	0.20384	0.029	T	0.17349	-1.0372	10	0.41790	T	0.15	.	14.2564	0.66055	0.0:0.9286:0.0:0.0714	.	722	Q8N6G6	ATL1_HUMAN	V	722	ENSP00000369921:A722V	ENSP00000369921:A722V	A	+	2	0	ADAMTSL1	18743454	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.245000	0.65405	1.372000	0.46190	0.561000	0.74099	GCT		0.527	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
HAUS6	54801	broad.mit.edu	37	9	19058123	19058123	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:19058123A>G	ENST00000380502.3	-	16	3109	c.2642T>C	c.(2641-2643)tTt>tCt	p.F881S	HAUS6_ENST00000380496.1_Missense_Mutation_p.F745S	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	881					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.F881S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTGTCCAAAAAGTTAAGCGT	0.413																																					p.F881S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2642C	9						.						206.0	198.0	201.0					9																	19058123		2203	4300	6503	19048123	SO:0001583	missense	54801	exon16			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2642T>C	9.37:g.19058123A>G	ENSP00000369871:p.Phe881Ser	Somatic		Capture	Illumina HiSeq	Phase_I	19048123	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	6.857	0.527372	0.13066	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.21543	2.01;2.0	5.8	2.3	0.28687	.	0.659488	0.14945	N	0.289260	T	0.18299	0.0439	M	0.65975	2.015	0.09310	N	1	B;B;B	0.28850	0.112;0.225;0.112	B;B;B	0.20955	0.032;0.032;0.032	T	0.18524	-1.0334	10	0.16420	T	0.52	-3.1972	7.995	0.30263	0.7088:0.0:0.2912:0.0	.	846;745;881	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	S	881;745	ENSP00000369871:F881S;ENSP00000369865:F745S	ENSP00000369865:F745S	F	-	2	0	HAUS6	19048123	0.813000	0.29090	0.048000	0.18961	0.081000	0.17604	2.615000	0.46368	1.034000	0.39945	0.383000	0.25322	TTT		0.413	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
SLC24A2	25769	broad.mit.edu	37	9	19786611	19786611	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:19786611C>A	ENST00000341998.2	-	1	315	c.254G>T	c.(253-255)aGa>aTa	p.R85I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R85I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	85					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.R85I(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAAGAGAGTTCTCTGATGGTA	0.458																																					p.R85I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G254T	9						.						97.0	101.0	100.0					9																	19786611		2203	4300	6503	19776611	SO:0001583	missense	25769	exon2			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.254G>T	9.37:g.19786611C>A	ENSP00000344801:p.Arg85Ile	Somatic		Capture	Illumina HiSeq	Phase_I	19776611	NM_020344	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359768	0.61403	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.76839	-1.05;-1.05	5.76	5.76	0.90799	.	0.091907	0.47093	D	0.000260	T	0.77336	0.4115	L	0.58510	1.815	0.80722	D	1	B;B	0.33512	0.415;0.291	B;B	0.35240	0.198;0.111	T	0.73579	-0.3938	9	.	.	.	.	19.967	0.97274	0.0:1.0:0.0:0.0	.	85;85	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	85	ENSP00000344801:R85I;ENSP00000286344:R85I	.	R	-	2	0	SLC24A2	19776611	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	2.858000	0.48356	2.714000	0.92807	0.655000	0.94253	AGA		0.458	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	
KLHL9	55958	broad.mit.edu	37	9	21333610	21333610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:21333610C>A	ENST00000359039.4	-	1	1769	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*	KLHL9_ENST00000537938.1_Nonsense_Mutation_p.E349*			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	417					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.E417*(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTGTAACATTCTACTGTGGCC	0.433																																					p.E417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1249T	9						.						125.0	114.0	117.0					9																	21333610		2203	4300	6503	21323610	SO:0001587	stop_gained	55958	exon1			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1249G>T	9.37:g.21333610C>A	ENSP00000351933:p.Glu417*	Somatic		Capture	Illumina HiSeq	Phase_I	21323610	NM_018847	Q8TCQ2	Nonsense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	37	6.376719	0.97515	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5281	0.84336	0.0:1.0:0.0:0.0	.	.	.	.	X	417;349	.	ENSP00000351933:E417X	E	-	1	0	KLHL9	21323610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.037000	0.70956	2.585000	0.87301	0.655000	0.94253	GAA		0.433	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
IFNA6	3443	broad.mit.edu	37	9	21350876	21350876	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:21350876G>T	ENST00000380210.1	-	1	501	c.11C>A	c.(10-12)cCt>cAt	p.P4H		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	4					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.P4H(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TAAAGCAAAAGGCAAAGCCAT	0.512																																					p.P4H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11A	9						.						79.0	78.0	78.0					9																	21350876		2203	4300	6503	21340876	SO:0001583	missense	3443	exon1				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.11C>A	9.37:g.21350876G>T	ENSP00000369558:p.Pro4His	Somatic		Capture	Illumina HiSeq	Phase_I	21340876	NM_021002	Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901666	0.33535	.	.	ENSG00000120235	ENST00000380210	T	0.03094	4.05	3.78	-2.86	0.05717	.	1.391060	0.04490	N	0.379425	T	0.10723	0.0262	M	0.64170	1.965	0.09310	N	1	D	0.57899	0.981	P	0.59171	0.853	T	0.31024	-0.9958	10	0.62326	D	0.03	.	5.8379	0.18617	0.282:0.3424:0.3755:0.0	.	4	P05013	IFNA6_HUMAN	H	4	ENSP00000369558:P4H	ENSP00000369558:P4H	P	-	2	0	IFNA6	21340876	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.446000	0.02398	-0.450000	0.07107	-0.282000	0.10007	CCT		0.512	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002	
IFNA8	3445	broad.mit.edu	37	9	21409499	21409499	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:21409499C>A	ENST00000380205.1	+	1	354	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	108					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.F108L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TAGATGAATTCTACATCGAAC	0.507																																					p.F108L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C324A	9						.						106.0	101.0	103.0					9																	21409499		2203	4300	6503	21399499	SO:0001583	missense	3445	exon1				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.324C>A	9.37:g.21409499C>A	ENSP00000369553:p.Phe108Leu	Somatic		Capture	Illumina HiSeq	Phase_I	21399499	NM_002170	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	C	2.038	-0.420728	0.04734	.	.	ENSG00000120242	ENST00000380205	T	0.03745	3.82	3.48	-0.15	0.13416	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.518369	0.21700	N	0.070437	T	0.02929	0.0087	N	0.17800	0.525	0.09310	N	1	B	0.19935	0.04	B	0.35770	0.21	T	0.49624	-0.8920	10	0.10902	T	0.67	.	8.897	0.35470	0.1475:0.251:0.6014:0.0	.	108	P32881	IFNA8_HUMAN	L	108	ENSP00000369553:F108L	ENSP00000369553:F108L	F	+	3	2	IFNA8	21399499	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.187000	0.03067	-0.042000	0.13535	0.491000	0.48974	TTC		0.507	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170	
ELAVL2	1993	broad.mit.edu	37	9	23731022	23731022	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:23731022T>G	ENST00000397312.2	-	3	605	c.331A>C	c.(331-333)Aaa>Caa	p.K111Q	ELAVL2_ENST00000544538.1_Missense_Mutation_p.K111Q|ELAVL2_ENST00000380110.4_Missense_Mutation_p.K140Q|ELAVL2_ENST00000223951.6_Missense_Mutation_p.K111Q|ELAVL2_ENST00000380117.1_Missense_Mutation_p.K111Q	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	111	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K111Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAACATACTTTTATTGTTTTG	0.348																																					p.K111Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A331C	9						.						95.0	85.0	89.0					9																	23731022		2203	4299	6502	23721022	SO:0001583	missense	1993	exon3			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.331A>C	9.37:g.23731022T>G	ENSP00000380479:p.Lys111Gln	Somatic		Capture	Illumina HiSeq	Phase_I	23721022	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635773	0.67130	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.75938	2.23;-0.98;-0.98;-0.98;2.23	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.040712	0.85682	D	0.000000	T	0.80618	0.4657	M	0.85710	2.77	0.80722	D	1	B;B	0.30114	0.269;0.005	B;B	0.37267	0.245;0.008	T	0.79806	-0.1648	10	0.45353	T	0.12	.	16.2377	0.82389	0.0:0.0:0.0:1.0	.	111;111	Q12926;Q12926-2	ELAV2_HUMAN;.	Q	111;111;111;111;111;139;111	ENSP00000223951:K111Q;ENSP00000380479:K111Q;ENSP00000440998:K111Q;ENSP00000369460:K111Q;ENSP00000412602:K111Q	ENSP00000223951:K111Q	K	-	1	0	ELAVL2	23721022	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.452000	0.80683	2.371000	0.80710	0.533000	0.62120	AAA		0.348	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
TOPORS	10210	broad.mit.edu	37	9	32544014	32544014	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:32544014G>T	ENST00000360538.2	-	3	625	c.509C>A	c.(508-510)tCt>tAt	p.S170Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.S105Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	170	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S170Y(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGTGACAAAAGAACCATTATA	0.443																																					p.S105Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314A	9						.						166.0	139.0	148.0					9																	32544014		2203	4300	6503	32534014	SO:0001583	missense	10210	exon2			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.509C>A	9.37:g.32544014G>T	ENSP00000353735:p.Ser170Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	32534014	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533659	0.64972	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18338	2.22;2.22	4.78	4.78	0.61160	.	0.000000	0.42821	D	0.000655	T	0.38692	0.1050	L	0.56769	1.78	0.48632	D	0.999682	D	0.89917	1.0	D	0.70716	0.97	T	0.18650	-1.0330	10	0.72032	D	0.01	-9.5518	16.9825	0.86332	0.0:0.0:1.0:0.0	.	170	Q9NS56	TOPRS_HUMAN	Y	170;105	ENSP00000353735:S170Y;ENSP00000369187:S105Y	ENSP00000353735:S170Y	S	-	2	0	TOPORS	32534014	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.920000	0.70017	2.385000	0.81259	0.655000	0.94253	TCT		0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
NFX1	4799	broad.mit.edu	37	9	33294462	33294462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:33294462G>T	ENST00000379540.3	+	2	132	c.70G>T	c.(70-72)Gag>Tag	p.E24*	NFX1_ENST00000318524.6_Nonsense_Mutation_p.E24*|NFX1_ENST00000379521.4_Nonsense_Mutation_p.E24*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	24	Interaction with PABPC1 and PABC4.				inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E24*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CATTCCTCAGGAGAAAAAAAA	0.363																																					p.E24X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G70T	9						.						85.0	97.0	93.0					9																	33294462		2203	4300	6503	33284462	SO:0001587	stop_gained	4799	exon2			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.70G>T	9.37:g.33294462G>T	ENSP00000368856:p.Glu24*	Somatic		Capture	Illumina HiSeq	Phase_I	33284462	NM_147134	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Nonsense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714609	0.89112	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	.	.	.	5.42	5.42	0.78866	.	0.151669	0.44688	D	0.000424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.7231	0.85415	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000317695:E24X	E	+	1	0	NFX1	33284462	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.698000	0.74608	2.528000	0.85240	0.544000	0.68410	GAG		0.363	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
NOL6	65083	broad.mit.edu	37	9	33464941	33464941	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:33464941G>T	ENST00000379471.2	-	21	2802	c.2715C>A	c.(2713-2715)ttC>ttA	p.F905L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.F853L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	905					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F905L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGATACCAAGAAAAGGAATC	0.493																																					p.F905L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2715A	9						.						82.0	87.0	85.0					9																	33464941		2203	4300	6503	33454941	SO:0001583	missense	65083	exon21			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2715C>A	9.37:g.33464941G>T	ENSP00000368784:p.Phe905Leu	Somatic		Capture	Illumina HiSeq	Phase_I	33454941	NM_022917	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	G	2.081	-0.410680	0.04799	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.39406	1.08;1.08;1.08	5.45	-2.01	0.07410	.	1.153980	0.06112	N	0.667329	T	0.20333	0.0489	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15719	0.014;0.012;0.013;0.007	B;B;B;B	0.24006	0.05;0.03;0.019;0.036	T	0.22103	-1.0226	10	0.10902	T	0.67	.	2.1838	0.03881	0.2025:0.1066:0.472:0.2189	.	853;902;905;905	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	L	905;905;461;905;853	ENSP00000297990:F905L;ENSP00000368784:F905L;ENSP00000395915:F853L	ENSP00000297990:F905L	F	-	3	2	NOL6	33454941	0.004000	0.15560	0.006000	0.13384	0.094000	0.18550	0.773000	0.26661	-0.058000	0.13177	-0.182000	0.12963	TTC		0.493	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
NOL6	65083	broad.mit.edu	37	9	33467240	33467240	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:33467240G>T	ENST00000379471.2	-	14	1833	c.1746C>A	c.(1744-1746)ttC>ttA	p.F582L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.F530L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	582					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F582L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGGATCCCCAGAACTGGCGGA	0.612											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F582L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1746A	9						.						39.0	46.0	44.0					9																	33467240		2203	4300	6503	33457240	SO:0001583	missense	65083	exon14			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1746C>A	9.37:g.33467240G>T	ENSP00000368784:p.Phe582Leu	Somatic	840	Capture	Illumina HiSeq	Phase_I	33457240	NM_022917	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.097188	0.76870	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.71	1.71	0.24356	.	0.221993	0.47455	N	0.000223	T	0.60077	0.2241	L	0.60904	1.88	0.51767	D	0.999935	P;P;P;P;P	0.43352	0.735;0.69;0.798;0.804;0.735	P;P;P;P;P	0.54060	0.657;0.624;0.624;0.526;0.741	T	0.53975	-0.8362	10	0.36615	T	0.2	.	5.8159	0.18492	0.3394:0.1247:0.5359:0.0	.	530;579;582;582;582	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	L	582;582;582;138;582;530	ENSP00000313978:F582L;ENSP00000297990:F582L;ENSP00000368784:F582L;ENSP00000395915:F530L	ENSP00000297990:F582L	F	-	3	2	NOL6	33457240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.854000	0.27791	0.331000	0.23511	0.655000	0.94253	TTC		0.612	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
PRSS3	5646	broad.mit.edu	37	9	33795594	33795594	+	Intron	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:33795594C>T	ENST00000361005.5	+	2	211				PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000342836.4_Intron|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.A8V	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A8V(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTGATCCTTGCCTTTGTGGGA	0.567																																					p.A8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	9						.						173.0	125.0	141.0					9																	33795594		2203	4300	6503	33785594	SO:0001627	intron_variant	5646	exon1				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1047C>T	9.37:g.33795594C>T		Somatic		Capture	Illumina HiSeq	Phase_I	33785594	NM_002771	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781875	0.02929	.	.	ENSG00000010438	ENST00000379405	D	0.88509	-2.39	3.85	2.93	0.34026	.	.	.	.	.	T	0.73938	0.3651	N	0.13098	0.295	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.60915	-0.7168	9	0.06891	T	0.86	.	6.3643	0.21445	0.0:0.7628:0.0:0.2372	.	8	P35030-3	.	V	8	ENSP00000368715:A8V	ENSP00000368715:A8V	A	+	2	0	PRSS3	33785594	0.920000	0.31207	0.908000	0.35775	0.048000	0.14542	2.838000	0.48199	0.748000	0.32831	0.306000	0.20318	GCC		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
UBE2R2	54926	broad.mit.edu	37	9	33900191	33900191	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:33900191C>T	ENST00000263228.3	+	3	475	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	95					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.S95L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GTATGCATTTCGATTCTTCAT	0.403																																					p.S95L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284T	9						.						146.0	139.0	141.0					9																	33900191		2203	4300	6503	33890191	SO:0001583	missense	54926	exon3			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.284C>T	9.37:g.33900191C>T	ENSP00000263228:p.Ser95Leu	Somatic		Capture	Illumina HiSeq	Phase_I	33890191	NM_017811	D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278189	0.95459	.	.	ENSG00000107341	ENST00000263228	T	0.41400	1.0	5.61	5.61	0.85477	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.83427	0.0036	10	0.87932	D	0	-0.3118	19.217	0.93782	0.0:1.0:0.0:0.0	.	95	Q712K3	UB2R2_HUMAN	L	95	ENSP00000263228:S95L	ENSP00000263228:S95L	S	+	2	0	UBE2R2	33890191	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	7.359000	0.79477	2.634000	0.89283	0.557000	0.71058	TCG		0.403	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811	
CCL27	10850	broad.mit.edu	37	9	34661979	34661979	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:34661979G>T	ENST00000259631.4	-	3	359	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	101					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.P101T(1)		kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCAGCTTGGGCAGAGTCCCA	0.488																																					p.P101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301A	9						.						101.0	109.0	107.0					9																	34661979		2203	4300	6503	34651979	SO:0001583	missense	10850	exon3			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.301C>A	9.37:g.34661979G>T	ENSP00000259631:p.Pro101Thr	Somatic		Capture	Illumina HiSeq	Phase_I	34651979	NM_006664		Missense_Mutation	SNP	ENST00000259631.4	37	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	8.009	0.757092	0.15846	.	.	ENSG00000213927	ENST00000259631	T	0.33438	1.41	4.11	3.17	0.36434	Chemokine interleukin-8-like domain (1);	0.285507	0.25366	N	0.031194	T	0.18676	0.0448	L	0.27053	0.805	0.09310	N	1	P	0.42993	0.797	B	0.36092	0.217	T	0.12553	-1.0543	10	0.87932	D	0	-13.337	8.9638	0.35863	0.0:0.0:0.779:0.221	.	101	Q9Y4X3	CCL27_HUMAN	T	101	ENSP00000259631:P101T	ENSP00000259631:P101T	P	-	1	0	CCL27	34651979	0.090000	0.21635	0.016000	0.15963	0.075000	0.17131	0.925000	0.28791	1.256000	0.44068	0.655000	0.94253	CCC		0.488	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664	
HINT2	84681	broad.mit.edu	37	9	35813656	35813656	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:35813656G>T	ENST00000259667.5	-	2	248	c.207C>A	c.(205-207)ctC>ctA	p.L69L	SPAG8_ENST00000484764.1_5'Flank|HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000396638.2_5'Flank|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000479751.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	69	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)	p.L69L(1)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCCTCATAGAGAATGTCAG	0.562											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L69L	GBM(185;1694 2122 5473 25431 37228)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207A	9						.						73.0	70.0	71.0					9																	35813656		2203	4300	6503	35803656	SO:0001819	synonymous_variant	84681	exon2			AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.207C>A	9.37:g.35813656G>T		Somatic	858	Capture	Illumina HiSeq	Phase_I	35803656	NM_032593	Q5TCW3	Missense_Mutation	SNP	ENST00000259667.5	37	CCDS6594.1																																																																																				0.562	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593	
ZNF658	26149	broad.mit.edu	37	9	40774525	40774525	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:40774525T>G	ENST00000602553.1	-	5	1044	c.750A>C	c.(748-750)aaA>aaC	p.K250N	ZNF658_ENST00000441795.1_Missense_Mutation_p.K248N|ZNF658_ENST00000377626.3_Missense_Mutation_p.K250N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K250N(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATCAAAGTTTTTTCTAAATT	0.358																																					p.K250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A750C	9						.						118.0	119.0	118.0					9																	40774525		2203	4300	6503	40764525	SO:0001583	missense	26149	exon5			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.750A>C	9.37:g.40774525T>G	ENSP00000473484:p.Lys250Asn	Somatic		Capture	Illumina HiSeq	Phase_I	40764525	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	16.23	3.064833	0.55432	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.07567	3.42;3.18	1.81	1.81	0.25067	.	.	.	.	.	T	0.14700	0.0355	L	0.57130	1.785	0.28648	N	0.906834	D;P	0.55385	0.971;0.767	P;B	0.52343	0.696;0.42	T	0.06716	-1.0811	9	0.56958	D	0.05	.	7.6478	0.28331	0.0:0.0:0.0:1.0	.	250;250	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	N	248;250	ENSP00000408462:K248N;ENSP00000366853:K250N	ENSP00000366853:K250N	K	-	3	2	ZNF658	40764525	0.001000	0.12720	0.007000	0.13788	0.326000	0.28443	0.315000	0.19451	1.116000	0.41820	0.321000	0.21382	AAA		0.358	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
TRPM3	80036	broad.mit.edu	37	9	73230985	73230985	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:73230985G>T	ENST00000377111.2	-	17	2572	c.2329C>A	c.(2329-2331)Ctg>Atg	p.L777M	TRPM3_ENST00000396285.1_Missense_Mutation_p.L624M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L804M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L639M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L626M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L649M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L777M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L636M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L639M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L636M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L649M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L781M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	802					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.L649M(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGAATTCCCAGAATTACCTAA	0.378																																					p.L777M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2329A	9						.						50.0	47.0	48.0					9																	73230985		2202	4300	6502	72420805	SO:0001583	missense	80036	exon17			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2329C>A	9.37:g.73230985G>T	ENSP00000366315:p.Leu777Met	Somatic		Capture	Illumina HiSeq	Phase_I	72420805	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.21|12.21	1.870491|1.870491	0.33069|0.33069	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.76186|.	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.167658|.	0.40640|.	N|.	0.001052|.	T|T	0.67505|0.67505	0.2900|0.2900	L|L	0.41710|0.41710	1.295|1.295	0.39826|0.39826	D|D	0.972909|0.972909	B;B;B;B;B;B;B;B|.	0.34226|.	0.133;0.443;0.031;0.037;0.16;0.056;0.121;0.232|.	B;B;B;B;B;B;B;B|.	0.36845|.	0.135;0.234;0.055;0.06;0.08;0.026;0.139;0.026|.	T|T	0.62709|0.62709	-0.6797|-0.6797	10|5	0.32370|.	T|.	0.25|.	-12.8353|-12.8353	19.6745|19.6745	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	777;777;767;781;639;636;749;624|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|Y	777;777;649;639;636;781;636;624;649;639;804|625	ENSP00000366315:L777M;ENSP00000366314:L777M;ENSP00000366310:L649M;ENSP00000354066:L639M;ENSP00000366309:L636M;ENSP00000350140:L781M;ENSP00000386127:L636M;ENSP00000379581:L624M;ENSP00000379587:L649M;ENSP00000350791:L639M;ENSP00000389542:L804M|.	ENSP00000350140:L781M|.	L|S	-|-	1|2	2|0	TRPM3|TRPM3	72420805|72420805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.803000|2.803000	0.47924|0.47924	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.378	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TMC1	117531	broad.mit.edu	37	9	75315496	75315496	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:75315496G>T	ENST00000297784.5	+	8	839	c.299G>T	c.(298-300)aGa>aTa	p.R100I	TMC1_ENST00000340019.3_Missense_Mutation_p.R100I|TMC1_ENST00000396237.3_Missense_Mutation_p.R100I	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	100	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.R100I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGAGAAAAGACAAATAATT	0.323																																					p.R100I	Pancreas(75;173 1345 14232 34245 43413)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299T	9						.						103.0	109.0	107.0					9																	75315496		2203	4298	6501	74505316	SO:0001583	missense	117531	exon8			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.299G>T	9.37:g.75315496G>T	ENSP00000297784:p.Arg100Ile	Somatic		Capture	Illumina HiSeq	Phase_I	74505316	NM_138691	A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672434	0.47781	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000542143;ENST00000396237	T;T;T	0.55234	0.53;0.53;0.53	5.56	3.7	0.42460	.	0.059335	0.64402	D	0.000004	T	0.30198	0.0757	N	0.22421	0.69	0.48135	D	0.999598	P	0.37864	0.61	B	0.26517	0.07	T	0.21177	-1.0253	10	0.72032	D	0.01	-11.022	6.5841	0.22610	0.3149:0.0:0.6851:0.0	.	100	Q8TDI8	TMC1_HUMAN	I	100;100;94;100	ENSP00000297784:R100I;ENSP00000341433:R100I;ENSP00000379538:R100I	ENSP00000297784:R100I	R	+	2	0	TMC1	74505316	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	1.902000	0.39848	1.481000	0.48307	0.563000	0.77884	AGA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
ALDH1A1	216	broad.mit.edu	37	9	75516194	75516194	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:75516194C>A	ENST00000297785.3	-	13	1490	c.1436G>T	c.(1435-1437)gGa>gTa	p.G479V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	479					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.G479V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ACCGTACTCTCCCCTAGAGAG	0.378																																					p.G479V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436T	9						.						117.0	108.0	111.0					9																	75516194		2203	4300	6503	74706014	SO:0001583	missense	216	exon13			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1436G>T	9.37:g.75516194C>A	ENSP00000297785:p.Gly479Val	Somatic		Capture	Illumina HiSeq	Phase_I	74706014	NM_000689	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309739	0.81247	.	.	ENSG00000165092	ENST00000297785	T	0.25579	1.79	5.49	5.49	0.81192	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.61489	0.2351	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69764	-0.5057	10	0.87932	D	0	.	19.3616	0.94442	0.0:1.0:0.0:0.0	.	479	P00352	AL1A1_HUMAN	V	479	ENSP00000297785:G479V	ENSP00000297785:G479V	G	-	2	0	ALDH1A1	74706014	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.237000	0.78164	2.569000	0.86673	0.650000	0.86243	GGA		0.378	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1		
RORB	6096	broad.mit.edu	37	9	77249626	77249626	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:77249626A>G	ENST00000396204.2	+	3	206	c.206A>G	c.(205-207)aAc>aGc	p.N69S	RORB_ENST00000376896.3_Missense_Mutation_p.N58S			Q92753	RORB_HUMAN	RAR-related orphan receptor B	69					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.N58S(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GACAGAACGAACAGAAACCGT	0.453																																					p.N58S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173G	9						.						81.0	75.0	77.0					9																	77249626		2203	4300	6503	76439446	SO:0001583	missense	6096	exon3			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.206A>G	9.37:g.77249626A>G	ENSP00000379507:p.Asn69Ser	Somatic		Capture	Illumina HiSeq	Phase_I	76439446	NM_006914	Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	A	12.80	2.045683	0.36085	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97186	-4.28;-4.28	5.82	5.82	0.92795	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.94656	0.8277	L	0.33485	1.01	0.80722	D	1	B;B	0.27559	0.034;0.181	B;B	0.35278	0.138;0.199	D	0.92750	0.6215	10	0.16896	T	0.51	.	16.1839	0.81934	1.0:0.0:0.0:0.0	.	69;58	Q92753;Q58EY0	RORB_HUMAN;.	S	58;69	ENSP00000366093:N58S;ENSP00000379507:N69S	ENSP00000366093:N58S	N	+	2	0	RORB	76439446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.231000	0.65327	2.222000	0.72286	0.533000	0.62120	AAC		0.453	RORB-201	KNOWN	basic	protein_coding	protein_coding			
TRPM6	140803	broad.mit.edu	37	9	77390923	77390923	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:77390923C>A	ENST00000360774.1	-	24	3516	c.3279G>T	c.(3277-3279)atG>atT	p.M1093I	TRPM6_ENST00000361255.3_Missense_Mutation_p.M1088I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.M1093I|TRPM6_ENST00000451710.3_Missense_Mutation_p.M1093I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.M1088I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1093					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.M1093I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CGTGGTAGGTCATGATGTAGC	0.517																																					p.M1088I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3264T	9						.						116.0	125.0	122.0					9																	77390923		2203	4300	6503	76580743	SO:0001583	missense	140803	exon24			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3279G>T	9.37:g.77390923C>A	ENSP00000354006:p.Met1093Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76580743	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778145	0.90195	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.58652	0.4;0.4;0.4;0.4;0.32	5.61	5.61	0.85477	.	0.035761	0.85682	D	0.000000	T	0.70055	0.3180	M	0.78285	2.405	0.58432	D	0.999999	P;P;P	0.50943	0.81;0.935;0.94	B;P;P	0.49528	0.291;0.614;0.565	T	0.74881	-0.3513	10	0.87932	D	0	.	19.6316	0.95708	0.0:1.0:0.0:0.0	.	1093;1088;1088	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1093;1093;1088;1088;1093;756;756	ENSP00000354006:M1093I;ENSP00000407341:M1093I;ENSP00000396672:M1088I;ENSP00000354962:M1088I;ENSP00000366060:M1093I	ENSP00000309693:M756I	M	-	3	0	TRPM6	76580743	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.645000	0.83430	2.656000	0.90262	0.591000	0.81541	ATG		0.517	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77502749	77502749	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:77502749C>T	ENST00000360774.1	-	1	261	c.24G>A	c.(22-24)gaG>gaA	p.E8E	TRPM6_ENST00000359047.2_Silent_p.E8E|TRPM6_ENST00000361255.3_5'Flank|TRPM6_ENST00000376871.3_Silent_p.E8E|TRPM6_ENST00000376864.4_Silent_p.E8E|TRPM6_ENST00000376872.3_Silent_p.E8E|TRPM6_ENST00000449912.2_5'Flank|TRPM6_ENST00000451710.3_Silent_p.E8E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	8					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E8E(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTGCAAGCGCTCCAAGACAG	0.567																																					p.E8E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G24A	9						.						152.0	139.0	143.0					9																	77502749		2203	4300	6503	76692569	SO:0001819	synonymous_variant	140803	exon1			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.24G>A	9.37:g.77502749C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76692569	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																				0.567	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
C9orf41	138199	broad.mit.edu	37	9	77613555	77613555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:77613555G>T	ENST00000376834.3	-	5	1021	c.869C>A	c.(868-870)tCt>tAt	p.S290Y	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	290								p.S290Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TGCTGTCATAGAAAAGTTAGA	0.388																																					p.S290Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869A	9						.						61.0	66.0	64.0					9																	77613555		2203	4300	6503	76803375	SO:0001583	missense	138199	exon5			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.869C>A	9.37:g.77613555G>T	ENSP00000366030:p.Ser290Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	76803375	NM_152420	Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085246	0.94100	.	.	ENSG00000156017	ENST00000376834;ENST00000451153	T	0.04234	3.67	5.98	5.98	0.97165	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33111	-0.9881	10	0.62326	D	0.03	-14.752	20.452	0.99131	0.0:0.0:1.0:0.0	.	290	Q8N4J0	CI041_HUMAN	Y	290;229	ENSP00000366030:S290Y	ENSP00000366030:S290Y	S	-	2	0	C9orf41	76803375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.838000	0.97847	0.591000	0.81541	TCT		0.388	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	
PRUNE2	158471	broad.mit.edu	37	9	79469111	79469111	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:79469111C>T	ENST00000376718.3	-	2	173	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PRUNE2_ENST00000376713.3_Missense_Mutation_p.R17H|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	17					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R17H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCAAGCGTTTGCTTCG	0.343																																					p.R17H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G50A	9						.						100.0	88.0	92.0					9																	79469111		2203	4300	6503	78658931	SO:0001583	missense	158471	exon2			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.50G>A	9.37:g.79469111C>T	ENSP00000365908:p.Arg17His	Somatic		Capture	Illumina HiSeq	Phase_I	78658931	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304904	0.23736	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.14766	2.48;2.48	5.57	4.66	0.58398	.	0.708385	0.13763	N	0.364453	T	0.11281	0.0275	L	0.51422	1.61	0.80722	D	1	P;B	0.37997	0.614;0.004	B;B	0.26864	0.074;0.002	T	0.08126	-1.0737	10	0.42905	T	0.14	.	8.3604	0.32355	0.0:0.7058:0.0:0.2942	.	17;17	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	H	17;16;17	ENSP00000365908:R17H;ENSP00000365903:R17H	ENSP00000365903:R17H	R	-	2	0	PRUNE2	78658931	0.800000	0.28916	0.995000	0.50966	0.920000	0.55202	0.606000	0.24194	1.321000	0.45227	0.655000	0.94253	CGC		0.343	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	broad.mit.edu	37	9	79996924	79996924	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:79996924G>A	ENST00000360280.3	+	68	9370	c.9110G>A	c.(9109-9111)cGa>cAa	p.R3037Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.R2998Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R3037Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R3037Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3037					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R3037Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGAGTCTGCGACCTCCTCGG	0.343																																					p.R2998Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8993A	9						.						52.0	52.0	52.0					9																	79996924		2203	4300	6503	79186744	SO:0001583	missense	23230	exon67			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9110G>A	9.37:g.79996924G>A	ENSP00000353422:p.Arg3037Gln	Somatic		Capture	Illumina HiSeq	Phase_I	79186744	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663562	0.88251	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.72282	-0.51;-0.64;-0.55;-0.01	5.33	5.33	0.75918	.	0.201597	0.44483	D	0.000456	T	0.82130	0.4970	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.997	D;P;D;P	0.80764	0.994;0.756;0.933;0.894	T	0.82592	-0.0381	9	.	.	.	.	12.0555	0.53533	0.0841:0.0:0.9159:0.0	.	2998;3037;3037;3037	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	3037;2998;3037;3037	ENSP00000365821:R3037Q;ENSP00000365823:R2998Q;ENSP00000353422:R3037Q;ENSP00000349985:R3037Q	.	R	+	2	0	VPS13A	79186744	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.943000	0.87716	2.494000	0.84150	0.585000	0.79938	CGA		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
TLE4	7091	broad.mit.edu	37	9	82335192	82335192	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:82335192A>T	ENST00000376552.2	+	16	2840	c.1822A>T	c.(1822-1824)Aac>Tac	p.N608Y	TLE4_ENST00000376520.4_Missense_Mutation_p.N640Y|TLE4_ENST00000376534.4_Missense_Mutation_p.N245Y|TLE4_ENST00000265284.6_Missense_Mutation_p.N583Y|TLE4_ENST00000376544.3_Missense_Mutation_p.N539Y|TLE4_ENST00000376537.4_Missense_Mutation_p.N640Y	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	608					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.N608Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGATCTGCACAACCAGACCTT	0.542																																					p.N608Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1822T	9						.						53.0	55.0	54.0					9																	82335192		2203	4300	6503	81525012	SO:0001583	missense	7091	exon16			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1822A>T	9.37:g.82335192A>T	ENSP00000365735:p.Asn608Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	81525012	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537250	0.85812	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79784	0.991;0.972;0.989;0.993	T	0.07731	-1.0757	10	0.62326	D	0.03	-33.0415	15.9839	0.80133	1.0:0.0:0.0:0.0	.	583;539;640;608	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	Y	608;539;640;640;245;583	ENSP00000365735:N608Y;ENSP00000365727:N539Y;ENSP00000365703:N640Y;ENSP00000365720:N640Y;ENSP00000365717:N245Y;ENSP00000265284:N583Y	ENSP00000265284:N583Y	N	+	1	0	TLE4	81525012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.171000	0.68590	0.482000	0.46254	AAC		0.542	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
SPATA31D1	389763	broad.mit.edu	37	9	84608680	84608680	+	Missense_Mutation	SNP	G	G	A	rs569655832		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:84608680G>A	ENST00000344803.2	+	4	3342	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1099					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E1099K(1)									CATCGTAGACGAAGTCAGTCA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		18195	0.0		0.001	False		,,,				2504	0.0				p.E1099K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3295A	9						.						52.0	53.0	52.0					9																	84608680		1943	4147	6090	83798500	SO:0001583	missense	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3295G>A	9.37:g.84608680G>A	ENSP00000341988:p.Glu1099Lys	Somatic		Capture	Illumina HiSeq	Phase_I	83798500	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.586044	0.00872	.	.	ENSG00000214929	ENST00000344803	T	0.03689	3.84	2.31	-0.211	0.13172	.	.	.	.	.	T	0.01287	0.0042	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.46884	-0.9159	9	0.05959	T	0.93	-2.9419	2.6817	0.05095	0.5547:0.2774:0.1678:0.0	.	1099	Q6ZQQ2	F75D1_HUMAN	K	1099	ENSP00000341988:E1099K	ENSP00000341988:E1099K	E	+	1	0	FAM75D1	83798500	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.030000	0.30153	-0.037000	0.13646	-0.331000	0.08364	GAA		0.498	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
NTRK2	4915	broad.mit.edu	37	9	87359925	87359925	+	Silent	SNP	G	G	A	rs141562338		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:87359925G>A	ENST00000323115.4	+	10	1586	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	NTRK2_ENST00000304053.6_Silent_p.T411T|NTRK2_ENST00000359847.3_Silent_p.T411T|NTRK2_ENST00000376213.1_Silent_p.T411T|NTRK2_ENST00000395882.1_Silent_p.T411T|NTRK2_ENST00000395866.2_Silent_p.T255T|NTRK2_ENST00000376214.1_Silent_p.T411T|NTRK2_ENST00000277120.3_Silent_p.T411T|NTRK2_ENST00000376208.1_Silent_p.T411T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	411					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.T411T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGGACACCACGAACAGAAGTA	0.458										TSP Lung(25;0.17)																											p.T411T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1233A	9						.	G	,,,,	0,4406		0,0,2203	196.0	183.0	188.0		1233,1233,1233,1233,1233	-12.3	0.0	9	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	411/478,411/823,411/554,411/538,411/839	87359925	1,13005	2203	4300	6503	86549745	SO:0001819	synonymous_variant	4915	exon11			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1233G>A	9.37:g.87359925G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86549745	NM_001018066	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	CCDS35050.1																																																																																				0.458	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
AGTPBP1	23287	broad.mit.edu	37	9	88204552	88204552	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:88204552G>T	ENST00000357081.3	-	20	2757	c.2613C>A	c.(2611-2613)atC>atA	p.I871I	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.I883I|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.I831I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	871					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.I831I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TCCGAAAATAGATTTGCTGAG	0.333																																					p.I831I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2493A	9						.						101.0	95.0	97.0					9																	88204552		2203	4299	6502	87394372	SO:0001819	synonymous_variant	23287	exon20			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2613C>A	9.37:g.88204552G>T		Somatic		Capture	Illumina HiSeq	Phase_I	87394372	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																					0.333	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
NAA35	60560	broad.mit.edu	37	9	88573478	88573478	+	Missense_Mutation	SNP	C	C	A	rs186312968		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:88573478C>A	ENST00000361671.5	+	4	383	c.250C>A	c.(250-252)Ctc>Atc	p.L84I	NAA35_ENST00000376040.1_Missense_Mutation_p.L84I	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	84					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.L84I(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCGAAAAGTTCTCAATTTTGA	0.338																																					p.L84I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250A	9						.						122.0	115.0	117.0					9																	88573478		2203	4300	6503	87763298	SO:0001583	missense	60560	exon4			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.250C>A	9.37:g.88573478C>A	ENSP00000354972:p.Leu84Ile	Somatic		Capture	Illumina HiSeq	Phase_I	87763298	NM_024635	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931816	0.52866	.	.	ENSG00000135040	ENST00000361671;ENST00000416045;ENST00000376040	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	L	0.31476	0.935	0.80722	D	1	B;P	0.37423	0.047;0.594	B;B	0.43052	0.038;0.406	T	0.43750	-0.9372	9	0.19590	T	0.45	-3.3584	19.6734	0.95921	0.0:1.0:0.0:0.0	.	84;84	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	I	84	.	ENSP00000354972:L84I	L	+	1	0	NAA35	87763298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.906000	0.69900	2.645000	0.89757	0.655000	0.94253	CTC		0.338	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
DAPK1	1612	broad.mit.edu	37	9	90254306	90254306	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:90254306A>C	ENST00000408954.3	+	5	796	c.461A>C	c.(460-462)aAa>aCa	p.K154T	DAPK1_ENST00000469640.2_Missense_Mutation_p.K154T|DAPK1_ENST00000358077.5_Missense_Mutation_p.K154T|DAPK1_ENST00000472284.1_Missense_Mutation_p.K154T|DAPK1_ENST00000491893.1_Missense_Mutation_p.K154T	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K154T(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AATGTCCCCAAACCTCGGATC	0.363									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.K154T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A461C	9						.						97.0	92.0	94.0					9																	90254306		1809	4074	5883	89444126	SO:0001583	missense	1612	exon5	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.461A>C	9.37:g.90254306A>C	ENSP00000386135:p.Lys154Thr	Somatic		Capture	Illumina HiSeq	Phase_I	89444126	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768218	0.49680	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102584	0.40469	N	0.001091	T	0.31734	0.0806	N	0.16037	0.36	0.47819	D	0.999526	B;B;B	0.26876	0.162;0.005;0.051	B;B;B	0.32724	0.151;0.009;0.059	T	0.14783	-1.0460	10	0.44086	T	0.13	.	15.6246	0.76845	1.0:0.0:0.0:0.0	.	154;154;154	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	T	154	ENSP00000350785:K154T;ENSP00000417076:K154T;ENSP00000418885:K154T;ENSP00000386135:K154T;ENSP00000419026:K154T	ENSP00000350785:K154T	K	+	2	0	DAPK1	89444126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.174000	0.71943	2.272000	0.75746	0.460000	0.39030	AAA		0.363	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
DIRAS2	54769	broad.mit.edu	37	9	93375578	93375578	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:93375578T>C	ENST00000375765.3	-	2	920	c.532A>G	c.(532-534)Atc>Gtc	p.I178V		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	178					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.I178V(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTCCCGTCGATCTGGAGACTC	0.542																																					p.I178V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A532G	9						.						164.0	147.0	152.0					9																	93375578		2203	4300	6503	92415398	SO:0001583	missense	54769	exon2			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.532A>G	9.37:g.93375578T>C	ENSP00000364919:p.Ile178Val	Somatic		Capture	Illumina HiSeq	Phase_I	92415398	NM_017594	B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	T	5.392	0.257572	0.10239	.	.	ENSG00000165023	ENST00000375765	T	0.68331	-0.32	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	N	0.08118	0	0.54753	D	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.38779	-0.9645	10	0.22109	T	0.4	.	14.7364	0.69419	0.0:0.0:0.0:1.0	.	178	Q96HU8	DIRA2_HUMAN	V	178	ENSP00000364919:I178V	ENSP00000364919:I178V	I	-	1	0	DIRAS2	92415398	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.954000	0.70298	2.326000	0.78906	0.533000	0.62120	ATC		0.542	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1		
AUH	549	broad.mit.edu	37	9	93983251	93983251	+	Missense_Mutation	SNP	C	C	T	rs141700491		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:93983251C>T	ENST00000375731.4	-	7	702	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	AUH_ENST00000303617.5_Missense_Mutation_p.A198T	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	227					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)	p.A227T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ATTCCAATGGCGCGTGGCAAT	0.493													.|||	1	0.000199681	0.0	0.0	5008	,	,		18018	0.001		0.0	False		,,,				2504	0.0				p.A227T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	9						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	84.0	85.0		679	3.9	0.8	9	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	AUH	NM_001698.2	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	227/340	93983251	2,13004	2203	4300	6503	93023072	SO:0001583	missense	549	exon7			X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.679G>A	9.37:g.93983251C>T	ENSP00000364883:p.Ala227Thr	Somatic		Capture	Illumina HiSeq	Phase_I	93023072	NM_001698	B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956524	0.34565	2.27E-4	1.16E-4	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.77098	-1.07;-1.07	4.77	3.87	0.44632	Crotonase, core (1);	0.406531	0.29059	N	0.013270	T	0.67711	0.2922	L	0.42744	1.35	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.14023	0.004;0.01	T	0.61098	-0.7131	10	0.25106	T	0.35	.	10.1459	0.42762	0.0:0.7861:0.0:0.2139	.	198;227	Q13825-2;Q13825	.;AUHM_HUMAN	T	227;198	ENSP00000364883:A227T;ENSP00000307334:A198T	ENSP00000307334:A198T	A	-	1	0	AUH	93023072	0.069000	0.21087	0.846000	0.33378	0.869000	0.49853	0.116000	0.15561	1.231000	0.43661	0.555000	0.69702	GCC		0.493	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1		
IARS	3376	broad.mit.edu	37	9	95043084	95043084	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:95043084A>C	ENST00000375643.3	-	7	955	c.689T>G	c.(688-690)cTa>cGa	p.L230R	IARS_ENST00000443024.2_Missense_Mutation_p.L230R|IARS_ENST00000447699.2_Missense_Mutation_p.L120R|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	230					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.L230R(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTTACTAGGTAGAGTCCAGGG	0.363																																					p.L230R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T689G	9						.						116.0	108.0	110.0					9																	95043084		2203	4300	6503	94082905	SO:0001583	missense	3376	exon7			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.689T>G	9.37:g.95043084A>C	ENSP00000364794:p.Leu230Arg	Somatic		Capture	Illumina HiSeq	Phase_I	94082905	NM_013417	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600397	0.87055	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.55	5.55	0.83447	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.64402	D	0.000001	D	0.96417	0.8831	H	0.99887	4.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98281	1.0508	10	0.87932	D	0	-9.9556	14.9706	0.71232	1.0:0.0:0.0:0.0	.	230;75	P41252;Q6P0M4	SYIC_HUMAN;.	R	230;230;120;230;230	ENSP00000364794:L230R;ENSP00000406448:L230R;ENSP00000415020:L120R;ENSP00000378922:L230R	ENSP00000364794:L230R	L	-	2	0	IARS	94082905	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.062000	0.93920	2.238000	0.73509	0.533000	0.62120	CTA		0.363	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
OMD	4958	broad.mit.edu	37	9	95178991	95178991	+	Nonsense_Mutation	SNP	C	C	A	rs376470384		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:95178991C>A	ENST00000375550.4	-	2	1125	c.850G>T	c.(850-852)Gaa>Taa	p.E284*	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	284					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.E284*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ACACTGAGTTCTACAATGTTG	0.313			T	USP6	aneurysmal bone cysts																																p.E284X			Dom	yes		9	9q22.31	4958	osteomodulin		M	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G850T	9						.						69.0	73.0	71.0					9																	95178991		2200	4296	6496	94218812	SO:0001587	stop_gained	4958	exon2			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.850G>T	9.37:g.95178991C>A	ENSP00000364700:p.Glu284*	Somatic		Capture	Illumina HiSeq	Phase_I	94218812	NM_005014	Q5TBF4	Nonsense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	c	37	6.266120	0.97426	.	.	ENSG00000127083	ENST00000375550	.	.	.	5.46	4.55	0.56014	.	0.074119	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.6623	16.4013	0.83641	0.0:0.8605:0.1395:0.0	.	.	.	.	X	284	.	ENSP00000364700:E284X	E	-	1	0	OMD	94218812	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	5.765000	0.68834	1.435000	0.47434	0.650000	0.86243	GAA		0.313	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014	
OMD	4958	broad.mit.edu	37	9	95179159	95179159	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:95179159G>A	ENST00000375550.4	-	2	957	c.682C>T	c.(682-684)Cct>Tct	p.P228S	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	228					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P228S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAACCAGGAGGCATTGATTCT	0.328			T	USP6	aneurysmal bone cysts																																p.P228S			Dom	yes		9	9q22.31	4958	osteomodulin		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682T	9						.						105.0	106.0	106.0					9																	95179159		2203	4300	6503	94218980	SO:0001583	missense	4958	exon2			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.682C>T	9.37:g.95179159G>A	ENSP00000364700:p.Pro228Ser	Somatic		Capture	Illumina HiSeq	Phase_I	94218980	NM_005014	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.563042	0.86335	.	.	ENSG00000127083	ENST00000375550	T	0.07688	3.17	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.32734	0.0839	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00950	-1.1503	10	0.87932	D	0	-19.4219	20.2148	0.98293	0.0:0.0:1.0:0.0	.	228	Q99983	OMD_HUMAN	S	228	ENSP00000364700:P228S	ENSP00000364700:P228S	P	-	1	0	OMD	94218980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.850000	0.98022	0.650000	0.86243	CCT		0.328	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014	
FAM120A	23196	broad.mit.edu	37	9	96259804	96259804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:96259804G>A	ENST00000277165.6	+	4	1050	c.856G>A	c.(856-858)Gtt>Att	p.V286I	FAM120A_ENST00000340893.4_Missense_Mutation_p.V286I|FAM120A_ENST00000333936.5_Missense_Mutation_p.V286I|FAM120A_ENST00000375389.3_Missense_Mutation_p.V286I	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	286						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V286F(1)|p.V286I(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATCAAAGCCGTTGCTGACTA	0.463																																					p.V286I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G856A	9						.						153.0	129.0	137.0					9																	96259804		2203	4300	6503	95299625	SO:0001583	missense	23196	exon4			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.856G>A	9.37:g.96259804G>A	ENSP00000277165:p.Val286Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95299625	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033404	0.93575	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.84	4.84	0.62591	.	0.000000	0.56097	D	0.000023	T	0.68329	0.2989	L	0.54323	1.7	0.58432	D	0.999996	D;D;D;D	0.89917	0.972;0.998;0.999;1.0	P;D;D;D	0.83275	0.66;0.981;0.987;0.996	T	0.65582	-0.6133	10	0.34782	T	0.22	-12.1742	18.1399	0.89636	0.0:0.0:1.0:0.0	.	286;286;286;286	Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;F120A_HUMAN;.	I	286	ENSP00000364538:V286I;ENSP00000277165:V286I;ENSP00000334918:V286I;ENSP00000344698:V286I	ENSP00000277165:V286I	V	+	1	0	FAM120A	95299625	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	9.506000	0.97992	2.509000	0.84616	0.563000	0.77884	GTT		0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
PHF2	5253	broad.mit.edu	37	9	96429455	96429455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:96429455G>A	ENST00000359246.4	+	17	2648	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	761					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.A761T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGGAGCTCGGCAGCTGGCAT	0.647																																					p.A761T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2281A	9						.						44.0	43.0	43.0					9																	96429455		2203	4300	6503	95469276	SO:0001583	missense	5253	exon17			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2281G>A	9.37:g.96429455G>A	ENSP00000352185:p.Ala761Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95469276	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	g	16.26	3.072367	0.55646	.	.	ENSG00000197724	ENST00000359246	T	0.19532	2.14	4.99	4.99	0.66335	.	0.132901	0.52532	D	0.000078	T	0.30947	0.0781	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.984	T	0.19910	-1.0291	10	0.37606	T	0.19	-21.4364	18.2858	0.90113	0.0:0.0:1.0:0.0	.	180;761	Q8N359;O75151	.;PHF2_HUMAN	T	761	ENSP00000352185:A761T	ENSP00000352185:A761T	A	+	1	0	PHF2	95469276	0.999000	0.42202	0.086000	0.20670	0.506000	0.33950	6.146000	0.71777	2.307000	0.77673	0.298000	0.19748	GCA		0.647	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
PTPDC1	138639	broad.mit.edu	37	9	96847538	96847538	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:96847538T>C	ENST00000375360.3	+	3	428	c.88T>C	c.(88-90)Tta>Cta	p.L30L	PTPDC1_ENST00000288976.3_Silent_p.L82L	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	30					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L30L(1)|p.L82L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTAGGAAATTTAGAACGTCC	0.413																																					p.L82L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T244C	9						.						77.0	70.0	73.0					9																	96847538		2203	4300	6503	95887359	SO:0001819	synonymous_variant	138639	exon2			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.88T>C	9.37:g.96847538T>C		Somatic		Capture	Illumina HiSeq	Phase_I	95887359	NM_152422	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	CCDS6707.1																																																																																				0.413	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
NUTM2F	54754	broad.mit.edu	37	9	97080940	97080940	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:97080940G>T	ENST00000253262.4	-	7	2098	c.2078C>A	c.(2077-2079)gCc>gAc	p.A693D	NUTM2F_ENST00000341207.4_Missense_Mutation_p.A678D|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	693								p.A559D(1)									GGACTTGCTGGCAGGAGAAGG	0.612																																					p.A693D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2078A	9						.						16.0	15.0	15.0					9																	97080940		1837	4061	5898	96120761	SO:0001583	missense	54754	exon7				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2078C>A	9.37:g.97080940G>T	ENSP00000253262:p.Ala693Asp	Somatic		Capture	Illumina HiSeq	Phase_I	96120761	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	G	7.637	0.680081	0.14907	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	T;T	0.12984	2.64;2.63	1.52	0.59	0.17458	Nuclear Testis protein, C-terminal (1);	1.867580	0.02359	N	0.076671	T	0.18718	0.0449	L	0.48642	1.525	0.09310	N	1	P	0.43542	0.81	P	0.46629	0.522	T	0.15838	-1.0423	10	0.72032	D	0.01	.	4.6062	0.12378	0.2131:0.0:0.7869:0.0	.	693	A1L443	FA22F_HUMAN	D	693;678;527	ENSP00000253262:A693D;ENSP00000343865:A678D	ENSP00000253262:A693D	A	-	2	0	FAM22F	96120761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.570000	0.05895	0.196000	0.20367	-0.680000	0.03767	GCC		0.612	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
FBP2	8789	broad.mit.edu	37	9	97355995	97355995	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:97355995C>T	ENST00000375337.3	-	1	80	c.14G>A	c.(13-15)aGc>aAc	p.S5N		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	5	Important for interaction with ALDOA.				carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)	p.S5N(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TTCGAAGGGGCTTCTGTCCGT	0.557																																					p.S5N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14A	9						.						132.0	117.0	122.0					9																	97355995		2203	4300	6503	96395816	SO:0001583	missense	8789	exon1			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.14G>A	9.37:g.97355995C>T	ENSP00000364486:p.Ser5Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96395816	NM_003837	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526903	0.27299	.	.	ENSG00000130957	ENST00000375337	T	0.72505	-0.66	5.85	2.93	0.34026	.	0.257379	0.44688	D	0.000429	T	0.57975	0.2090	L	0.34521	1.04	0.43043	D	0.994632	B	0.27068	0.167	B	0.28465	0.09	T	0.48647	-0.9017	10	0.27785	T	0.31	-3.8261	11.7309	0.51737	0.0:0.592:0.3446:0.0634	.	5	O00757	F16P2_HUMAN	N	5	ENSP00000364486:S5N	ENSP00000364486:S5N	S	-	2	0	FBP2	96395816	1.000000	0.71417	0.999000	0.59377	0.544000	0.35116	2.039000	0.41193	0.349000	0.23975	-0.136000	0.14681	AGC		0.557	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837	
PTCH1	5727	broad.mit.edu	37	9	98229462	98229462	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:98229462G>T	ENST00000331920.6	-	15	2795	c.2496C>A	c.(2494-2496)gtC>gtA	p.V832V	PTCH1_ENST00000375274.2_Silent_p.V831V|PTCH1_ENST00000421141.1_Silent_p.V681V|PTCH1_ENST00000430669.2_Silent_p.V766V|PTCH1_ENST00000437951.1_Silent_p.V766V|PTCH1_ENST00000429896.2_Silent_p.V681V|PTCH1_ENST00000418258.1_Silent_p.V681V	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	832					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V832V(2)|p.V831V(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTCCAACATGACATACTTCA	0.463																																					p.V681V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2043A	9						.						162.0	147.0	152.0					9																	98229462		2203	4300	6503	97269283	SO:0001819	synonymous_variant	5727	exon15			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2496C>A	9.37:g.98229462G>T		Somatic		Capture	Illumina HiSeq	Phase_I	97269283	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.463	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ERCC6L2	375748	broad.mit.edu	37	9	98684611	98684611	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:98684611A>C	ENST00000288985.7	+	8	1662	c.1357A>C	c.(1357-1359)Aaa>Caa	p.K453Q	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.K264Q	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	453					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.K453Q(1)									TGAAACAGTGAAAACCTTGTA	0.398																																					p.K453Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1357C	9						.						95.0	84.0	88.0					9																	98684611		2203	4300	6503	97724432	SO:0001583	missense	375748	exon8			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1357A>C	9.37:g.98684611A>C	ENSP00000288985:p.Lys453Gln	Somatic		Capture	Illumina HiSeq	Phase_I	97724432	NM_001010895	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.268053	0.23136	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	T;T	0.78707	-1.2;-1.2	5.29	4.13	0.48395	SNF2-related (1);	0.310487	0.26130	N	0.026178	T	0.67896	0.2942	L	0.39566	1.225	0.80722	D	1	B;B;B	0.25904	0.012;0.137;0.095	B;B;B	0.30029	0.017;0.11;0.04	T	0.57871	-0.7736	10	0.12430	T	0.62	-10.325	11.6827	0.51468	0.7191:0.2809:0.0:0.0	.	264;135;453	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	Q	135;453;264	ENSP00000288985:K453Q;ENSP00000416286:K264Q	ENSP00000288985:K453Q	K	+	1	0	C9orf102	97724432	1.000000	0.71417	0.990000	0.47175	0.933000	0.57130	3.672000	0.54583	0.818000	0.34468	0.477000	0.44152	AAA		0.398	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
CDC14B	8555	broad.mit.edu	37	9	99285633	99285633	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:99285633T>C	ENST00000375241.1	-	11	1606	c.1155A>G	c.(1153-1155)caA>caG	p.Q385Q	CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000463569.1_Silent_p.Q385Q|CDC14B_ENST00000375242.3_Silent_p.Q348Q|CDC14B_ENST00000375240.3_Silent_p.Q385Q|CDC14B_ENST00000375236.1_Silent_p.Q385Q|CDC14B_ENST00000265659.2_Silent_p.Q385Q	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	385					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q385Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTGCTCTGTGTTGTCCATTCT	0.453																																					p.Q348Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1044G	9						.						114.0	118.0	117.0					9																	99285633		2203	4300	6503	98325454	SO:0001819	synonymous_variant	8555	exon11			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1155A>G	9.37:g.99285633T>C		Somatic		Capture	Illumina HiSeq	Phase_I	98325454	NM_001077181	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	ENST00000375241.1	37	CCDS6722.1																																																																																				0.453	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	
ZNF510	22869	broad.mit.edu	37	9	99521253	99521253	+	Missense_Mutation	SNP	C	C	A	rs374007286		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:99521253C>A	ENST00000375231.1	-	6	2509	c.1859G>T	c.(1858-1860)aGa>aTa	p.R620I	ZNF510_ENST00000223428.4_Missense_Mutation_p.R620I			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	620					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.R620I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTGTGAATTCTCTGATGATC	0.408																																					p.R620I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1859T	9						.	C	ILE/ARG	0,4406		0,0,2203	79.0	85.0	83.0		1859	3.0	1.0	9		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF510	NM_014930.1	97	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	620/684	99521253	1,13005	2203	4300	6503	98561074	SO:0001583	missense	22869	exon6			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1859G>T	9.37:g.99521253C>A	ENSP00000364379:p.Arg620Ile	Somatic		Capture	Illumina HiSeq	Phase_I	98561074	NM_014930	Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991918	0.74703	0.0	1.16E-4	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.24908	1.83;1.83	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46521	0.1397	M	0.66439	2.03	0.39552	D	0.968984	D	0.89917	1.0	D	0.76575	0.988	T	0.53034	-0.8495	9	0.72032	D	0.01	.	12.2932	0.54831	0.0:1.0:0.0:0.0	.	620	Q9Y2H8	ZN510_HUMAN	I	620	ENSP00000364379:R620I;ENSP00000223428:R620I	ENSP00000223428:R620I	R	-	2	0	ZNF510	98561074	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.044000	0.13992	1.980000	0.57719	0.655000	0.94253	AGA		0.408	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930	
CCDC180	100499483	broad.mit.edu	37	9	100116895	100116895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:100116895C>A	ENST00000357054.1	+	34	4027	c.3092C>A	c.(3091-3093)tCa>tAa	p.S1031*	CCDC180_ENST00000375202.2_Nonsense_Mutation_p.S1060*|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.S1060*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1031						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S1031*(1)									GAAATCAATTCACTGTGTTCC	0.423																																					p.S1060X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3179A	9						.						70.0	73.0	72.0					9																	100116895		2203	4300	6503	99156716	SO:0001587	stop_gained	57653	exon23			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3092C>A	9.37:g.100116895C>A	ENSP00000349562:p.Ser1031*	Somatic		Capture	Illumina HiSeq	Phase_I	99156716	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	C	46	12.895174	0.99704	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	.	.	.	5.0	-0.271	0.12922	.	0.737754	0.12939	N	0.426799	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.0146	3.8229	0.08843	0.1743:0.341:0.0:0.4847	.	.	.	.	X	1031;1060;1060	.	ENSP00000349562:S1031X	S	+	2	0	C9orf174	99156716	0.000000	0.05858	0.005000	0.12908	0.080000	0.17528	-0.075000	0.11431	0.038000	0.15604	0.655000	0.94253	TCA		0.423	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
CORO2A	7464	broad.mit.edu	37	9	100888861	100888861	+	Silent	SNP	G	G	A	rs267602332		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:100888861G>A	ENST00000343933.5	-	11	1673	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	CORO2A_ENST00000375077.4_Silent_p.F472F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	472					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.F472F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGGGGCATTCGAAAACGTCAA	0.572																																					p.F472F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T	9						.						120.0	124.0	123.0					9																	100888861		2203	4300	6503	99928682	SO:0001819	synonymous_variant	7464	exon11			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1416C>T	9.37:g.100888861G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99928682	NM_003389	Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	CCDS6735.1																																																																																				0.572	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389	
UAP1L1	91373	broad.mit.edu	37	9	139974521	139974521	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chr9:139974521A>G	ENST00000409858.3	+	6	1137	c.1105A>G	c.(1105-1107)Aat>Gat	p.N369D	UAP1L1_ENST00000360271.3_Missense_Mutation_p.N246D	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	369							uridylyltransferase activity (GO:0070569)	p.N246D(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGAGGAGGGGAATCTGGTAAA	0.488																																					p.N369D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1105G	9						.						228.0	201.0	210.0					9																	139974521		2203	4300	6503	139094342	SO:0001583	missense	91373	exon6			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1105A>G	9.37:g.139974521A>G	ENSP00000386935:p.Asn369Asp	Somatic		Capture	Illumina HiSeq	Phase_I	139094342	NM_207309	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	A	8.209	0.799821	0.16397	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17054	2.3;2.3	4.8	3.66	0.41972	.	0.096049	0.64402	D	0.000002	T	0.26195	0.0639	L	0.39397	1.21	0.34528	D	0.708869	B;D	0.67145	0.056;0.996	B;D	0.63793	0.056;0.918	T	0.25813	-1.0121	10	0.34782	T	0.22	.	9.2102	0.37313	0.9138:0.0:0.0862:0.0	.	369;246	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	D	369;246	ENSP00000386935:N369D;ENSP00000353409:N246D	ENSP00000353409:N246D	N	+	1	0	UAP1L1	139094342	0.007000	0.16637	0.062000	0.19696	0.342000	0.28953	1.815000	0.38981	0.685000	0.31468	0.482000	0.46254	AAT		0.488	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063	
TMEM35	59353	broad.mit.edu	37	X	100349881	100349881	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:100349881G>A	ENST00000372930.4	+	2	723	c.440G>A	c.(439-441)gGg>gAg	p.G147E	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	147						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.G147E(1)		NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CCTTTGCCAGGGAATGCTGAG	0.547													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14852	0.0		0.0	False		,,,				2504	0.0				p.G147E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440A	X						.						74.0	66.0	69.0					X																	100349881		2203	4300	6503	100236537	SO:0001583	missense	59353	exon2			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.440G>A	X.37:g.100349881G>A	ENSP00000362021:p.Gly147Glu	Somatic		Capture	Illumina HiSeq	Phase_I	100236537	NM_021637	Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570033	0.00133	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	0.745	0.18359	.	0.419104	0.26272	N	0.025323	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34204	-0.9838	9	0.02654	T	1	-24.517	7.3517	0.26695	0.0994:0.0:0.5261:0.3745	.	147	Q53FP2	TMM35_HUMAN	E	147;106	.	ENSP00000362021:G147E	G	+	2	0	TMEM35	100236537	0.723000	0.28027	0.001000	0.08648	0.069000	0.16628	0.661000	0.25023	0.014000	0.14944	-0.245000	0.11935	GGG		0.547	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637	
BTK	695	broad.mit.edu	37	X	100611131	100611131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:100611131C>T	ENST00000308731.7	-	15	1638	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.R492H(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTCTGGAAGCGGTGGCGCAT	0.552									Agammaglobulinemia, X-linked																												p.R492H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1475A	X						.						111.0	90.0	97.0					X																	100611131		2203	4300	6503	100497787	SO:0001583	missense	695	exon15	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1475G>A	X.37:g.100611131C>T	ENSP00000308176:p.Arg492His	Somatic		Capture	Illumina HiSeq	Phase_I	100497787	NM_000061	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344599	0.24339	.	.	ENSG00000010671	ENST00000443591;ENST00000308731	D	0.82984	-1.67	5.49	2.52	0.30459	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.205070	0.52532	N	0.000064	T	0.72953	0.3525	L	0.43923	1.385	0.40858	D	0.983817	B;B;B;B	0.16802	0.005;0.004;0.004;0.019	B;B;B;B	0.12156	0.004;0.007;0.007;0.006	T	0.61058	-0.7139	10	0.33141	T	0.24	.	6.5457	0.22404	0.0:0.5663:0.263:0.1708	.	163;163;492;492	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	H	163;492	ENSP00000308176:R492H	ENSP00000308176:R492H	R	-	2	0	BTK	100497787	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	1.546000	0.36179	0.074000	0.16767	0.600000	0.82982	CGC		0.552	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
GPRASP1	9737	broad.mit.edu	37	X	101911923	101911923	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:101911923T>C	ENST00000361600.5	+	5	3883	c.3082T>C	c.(3082-3084)Tcc>Ccc	p.S1028P	GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1028P|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1028P|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1028P|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1028	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S1028P(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATTTGCAGGTCCACGTGTTC	0.557																																					p.S1028P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3082C	X						.						137.0	121.0	127.0					X																	101911923		2203	4300	6503	101798579	SO:0001583	missense	9737	exon3			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3082T>C	X.37:g.101911923T>C	ENSP00000355146:p.Ser1028Pro	Somatic		Capture	Illumina HiSeq	Phase_I	101798579	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.429143	0.01117	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	2.84	0.442	0.16582	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.46219	-0.9207	9	0.25751	T	0.34	0.5231	4.3719	0.11251	0.0:0.3127:0.0:0.6873	.	1028	Q5JY77	GASP1_HUMAN	P	1028	ENSP00000393691:S1028P;ENSP00000409420:S1028P;ENSP00000355146:S1028P;ENSP00000445683:S1028P	ENSP00000355146:S1028P	S	+	1	0	GPRASP1	101798579	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.062000	0.14389	0.005000	0.14708	0.235000	0.17854	TCC		0.557	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
GPRASP2	114928	broad.mit.edu	37	X	101971595	101971595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:101971595G>T	ENST00000535209.1	+	4	2629	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E600*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E600*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	600						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.E600*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAGTTTGAAGAATTCCTTTT	0.393																																					p.E600X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1798T	X						.						74.0	72.0	73.0					X																	101971595		2203	4300	6503	101858251	SO:0001587	stop_gained	114928	exon5			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1798G>T	X.37:g.101971595G>T	ENSP00000437394:p.Glu600*	Somatic		Capture	Illumina HiSeq	Phase_I	101858251	NM_001004051	D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	40	8.070506	0.98638	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.33	4.33	0.51752	.	0.000000	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2029	0.48751	0.0:0.0:1.0:0.0	.	.	.	.	X	600	.	ENSP00000339057:E600X	E	+	1	0	GPRASP2	101858251	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.660000	0.54496	2.413000	0.81919	0.600000	0.82982	GAA		0.393	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
TMEM31	203562	broad.mit.edu	37	X	102968541	102968541	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:102968541G>A	ENST00000319560.6	+	3	313	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	GLRA4_ENST00000372617.4_Silent_p.F330F	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	41						integral component of membrane (GO:0016021)		p.R41Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GCAAGGCAGCGAACACAAAGA	0.478																																					p.R41Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122A	X						.						161.0	122.0	135.0					X																	102968541		2203	4300	6503	102855197	SO:0001583	missense	203562	exon3			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.122G>A	X.37:g.102968541G>A	ENSP00000316940:p.Arg41Gln	Somatic		Capture	Illumina HiSeq	Phase_I	102855197	NM_182541	Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400412	0.25291	.	.	ENSG00000179363	ENST00000319560	.	.	.	5.5	-7.28	0.01456	.	.	.	.	.	T	0.38321	0.1036	.	.	.	0.19300	N	0.999971	B	0.19073	0.033	B	0.12837	0.008	T	0.20907	-1.0261	7	0.87932	D	0	0.0062	17.1778	0.86845	0.7163:0.0:0.2837:0.0	.	41	Q5JXX7	TMM31_HUMAN	Q	41	.	ENSP00000316940:R41Q	R	+	2	0	TMEM31	102855197	0.007000	0.16637	0.002000	0.10522	0.941000	0.58515	-0.814000	0.04486	-2.093000	0.00856	-0.305000	0.09177	CGA		0.478	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541	
NRK	203447	broad.mit.edu	37	X	105178364	105178364	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:105178364T>G	ENST00000243300.9	+	20	3730	c.3427T>G	c.(3427-3429)Ttt>Gtt	p.F1143V	NRK_ENST00000428173.2_Missense_Mutation_p.F1144V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1143					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.F1144V(1)|p.F1143V(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACAATCAGATTTTTCTGCCAA	0.433										HNSCC(51;0.14)																											p.F1143V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3427G	X						.						162.0	150.0	154.0					X																	105178364		1979	4155	6134	105065020	SO:0001583	missense	203447	exon20			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3427T>G	X.37:g.105178364T>G	ENSP00000434830:p.Phe1143Val	Somatic		Capture	Illumina HiSeq	Phase_I	105065020	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	T	12.90	2.075651	0.36662	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76709	-1.03;-1.04	5.08	5.08	0.68730	.	0.137132	0.34268	N	0.004111	T	0.74831	0.3768	L	0.29908	0.895	0.58432	D	0.999999	D;P	0.56035	0.974;0.58	P;B	0.56751	0.805;0.196	T	0.70208	-0.4935	10	0.16896	T	0.51	.	10.5224	0.44927	0.0:0.0:0.0:1.0	.	811;1143	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	V	1143;1144	ENSP00000434830:F1143V;ENSP00000438378:F1144V	ENSP00000434830:F1143V	F	+	1	0	NRK	105065020	0.719000	0.27986	0.083000	0.20561	0.041000	0.13682	1.169000	0.31871	1.948000	0.56530	0.486000	0.48141	TTT		0.433	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
TBC1D8B	54885	broad.mit.edu	37	X	106069425	106069425	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:106069425C>T	ENST00000357242.5	+	6	1167	c.993C>T	c.(991-993)agC>agT	p.S331S	TBC1D8B_ENST00000276175.3_Silent_p.S331S|TBC1D8B_ENST00000481617.2_Silent_p.S331S|TBC1D8B_ENST00000310452.2_Silent_p.S331S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	331	GRAM 2.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.S331S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTTTGCTAGCCAAGATGGCA	0.353																																					p.S331S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C993T	X						.						102.0	97.0	99.0					X																	106069425		2203	4300	6503	105956081	SO:0001819	synonymous_variant	54885	exon6			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.993C>T	X.37:g.106069425C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105956081	NM_198881	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	CCDS14522.1																																																																																				0.353	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
VSIG1	340547	broad.mit.edu	37	X	107301290	107301290	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:107301290G>T	ENST00000217957.5	+	2	189	c.72G>T	c.(70-72)gtG>gtT	p.V24V	VSIG1_ENST00000415430.3_Silent_p.V24V	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	24	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.V24V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TGGTGCAAGTGACCATCCCAG	0.423																																					p.V24V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G72T	X						.						225.0	164.0	184.0					X																	107301290		2203	4300	6503	107187946	SO:0001819	synonymous_variant	340547	exon2			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.72G>T	X.37:g.107301290G>T		Somatic		Capture	Illumina HiSeq	Phase_I	107187946	NM_182607	C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	CCDS14535.1																																																																																				0.423	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
COL4A5	1287	broad.mit.edu	37	X	107829917	107829917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:107829917G>T	ENST00000361603.2	+	19	1349	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	COL4A5_ENST00000328300.6_Nonsense_Mutation_p.E369*	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	369	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.E369*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTTGCCTGGAGAAAAAGGAGA	0.423									Alport syndrome with Diffuse Leiomyomatosis																												p.E369X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1105T	X						.						116.0	114.0	115.0					X																	107829917		2203	4300	6503	107716573	SO:0001587	stop_gained	1287	exon19	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1105G>T	X.37:g.107829917G>T	ENSP00000354505:p.Glu369*	Somatic		Capture	Illumina HiSeq	Phase_I	107716573	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	37	6.573703	0.97676	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	5.2	5.2	0.72013	.	0.528179	0.19041	N	0.124281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.5555	0.61757	0.0:0.1518:0.8482:0.0	.	.	.	.	X	369	.	ENSP00000331902:E369X	E	+	1	0	COL4A5	107716573	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	1.593000	0.36686	2.152000	0.67230	0.284000	0.19432	GAA		0.423	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
IRS4	8471	broad.mit.edu	37	X	107976399	107976399	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:107976399G>T	ENST00000372129.2	-	1	3252	c.3176C>A	c.(3175-3177)tCt>tAt	p.S1059Y	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1059					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.S1059Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGGGGAGAGAGAAATATCCAT	0.512																																					p.S1059Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3176A	X						.						80.0	79.0	79.0					X																	107976399		2203	4300	6503	107863055	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3176C>A	X.37:g.107976399G>T	ENSP00000361202:p.Ser1059Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	107863055	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029027	0.54790	.	.	ENSG00000133124	ENST00000372129	T	0.48522	0.81	5.38	4.52	0.55395	.	0.295873	0.32190	N	0.006442	T	0.39627	0.1085	L	0.27053	0.805	0.30740	N	0.746265	P	0.49635	0.926	P	0.47744	0.556	T	0.43589	-0.9382	10	0.49607	T	0.09	-8.8182	9.0072	0.36120	0.2367:0.0:0.7632:0.0	.	1059	O14654	IRS4_HUMAN	Y	1059	ENSP00000361202:S1059Y	ENSP00000361202:S1059Y	S	-	2	0	IRS4	107863055	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	3.210000	0.51129	1.248000	0.43934	-0.191000	0.12829	TCT		0.512	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
IRS4	8471	broad.mit.edu	37	X	107976789	107976789	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:107976789C>A	ENST00000372129.2	-	1	2862	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	929					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R929I(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATTGCTCTCTCTTTTAGTGAA	0.433																																					p.R929I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2786T	X						.						277.0	251.0	260.0					X																	107976789		2203	4300	6503	107863445	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2786G>T	X.37:g.107976789C>A	ENSP00000361202:p.Arg929Ile	Somatic		Capture	Illumina HiSeq	Phase_I	107863445	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766250	0.31228	.	.	ENSG00000133124	ENST00000372129	T	0.36878	1.23	5.33	3.37	0.38596	.	0.504623	0.20809	N	0.085295	T	0.28034	0.0691	L	0.57536	1.79	0.09310	N	0.999995	B	0.17465	0.022	B	0.11329	0.006	T	0.21348	-1.0248	10	0.38643	T	0.18	-4.1903	1.7984	0.03066	0.3123:0.4057:0.0:0.2821	.	929	O14654	IRS4_HUMAN	I	929	ENSP00000361202:R929I	ENSP00000361202:R929I	R	-	2	0	IRS4	107863445	1.000000	0.71417	0.015000	0.15790	0.007000	0.05969	2.193000	0.42658	1.175000	0.42826	0.600000	0.82982	AGA		0.433	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
GUCY2F	2986	broad.mit.edu	37	X	108636218	108636218	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:108636218A>T	ENST00000218006.2	-	13	2782	c.2491T>A	c.(2491-2493)Tat>Aat	p.Y831N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	831					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.Y831N(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTGCTAGAATATTGCTCCAAC	0.368																																					p.Y831N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2491A	X						.						176.0	158.0	164.0					X																	108636218		2203	4300	6503	108522874	SO:0001583	missense	2986	exon13			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2491T>A	X.37:g.108636218A>T	ENSP00000218006:p.Tyr831Asn	Somatic		Capture	Illumina HiSeq	Phase_I	108522874	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897718	0.72639	.	.	ENSG00000101890	ENST00000218006	D	0.87571	-2.27	4.39	4.39	0.52855	Haem NO binding associated (1);Protein kinase-like domain (1);	0.061993	0.64402	D	0.000003	D	0.95373	0.8498	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95973	0.8971	10	0.87932	D	0	.	10.8804	0.46935	1.0:0.0:0.0:0.0	.	831	P51841	GUC2F_HUMAN	N	831	ENSP00000218006:Y831N	ENSP00000218006:Y831N	Y	-	1	0	GUCY2F	108522874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.993000	0.93524	1.932000	0.55993	0.417000	0.27973	TAT		0.368	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
GUCY2F	2986	broad.mit.edu	37	X	108697037	108697037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:108697037C>T	ENST00000218006.2	-	4	1375	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	362					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTATTCATGGCTTGTGCGATA	0.418																																					p.A362T												.	.	0			c.G1084A	X						.						38.0	33.0	35.0					X																	108697037		2203	4300	6503	108583693	SO:0001583	missense	2986	exon4			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1084G>A	X.37:g.108697037C>T	ENSP00000218006:p.Ala362Thr	None		Capture	Illumina HiSeq	Phase_I	108583693	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508111	0.64410	.	.	ENSG00000101890	ENST00000218006	D	0.86366	-2.11	4.25	3.36	0.38483	Extracellular ligand-binding receptor (1);	0.112408	0.64402	D	0.000012	D	0.90521	0.7030	M	0.68952	2.095	0.48511	D	0.99966	D	0.65815	0.995	D	0.63283	0.913	D	0.90092	0.4178	10	0.59425	D	0.04	.	10.3381	0.43862	0.1975:0.8025:0.0:0.0	.	362	P51841	GUC2F_HUMAN	T	362	ENSP00000218006:A362T	ENSP00000218006:A362T	A	-	1	0	GUCY2F	108583693	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.986000	0.40677	1.086000	0.41228	0.513000	0.50165	GCC		0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
ACSL4	2182	broad.mit.edu	37	X	108902601	108902601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:108902601G>A	ENST00000469796.2	-	15	2356	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ACSL4_ENST00000340800.2_Nonsense_Mutation_p.R654*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R613*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	654					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R654*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GCAGCTTCTCGAATTTCTTTC	0.383																																					p.R613X	Pancreas(188;358 2127 38547 41466 45492)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1837T	X						.						141.0	131.0	135.0					X																	108902601		2203	4300	6503	108789257	SO:0001587	stop_gained	2182	exon15			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1960C>T	X.37:g.108902601G>A	ENSP00000419171:p.Arg654*	Somatic		Capture	Illumina HiSeq	Phase_I	108789257	NM_004458	D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	45	11.544292	0.99574	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.35	0.721	0.18219	.	0.113252	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-13.7252	8.8662	0.35286	0.1028:0.0:0.4928:0.4044	.	.	.	.	X	613;654;654	.	ENSP00000339787:R654X	R	-	1	2	ACSL4	108789257	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	4.435000	0.59941	-0.156000	0.11079	-0.215000	0.12644	CGA		0.383	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458	
TMEM164	84187	broad.mit.edu	37	X	109310616	109310616	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:109310616C>T	ENST00000372073.1	+	3	768	c.432C>T	c.(430-432)gtC>gtT	p.V144V	TMEM164_ENST00000372072.3_5'UTR|TMEM164_ENST00000372068.2_Silent_p.V144V|TMEM164_ENST00000288381.4_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	144						integral component of membrane (GO:0016021)		p.V144V(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GAGCTATCGTCGTCTTCAAGT	0.423																																					p.V144V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C432T	X						.						200.0	168.0	179.0					X																	109310616		2203	4300	6503	109197272	SO:0001819	synonymous_variant	84187	exon3			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.432C>T	X.37:g.109310616C>T		Somatic		Capture	Illumina HiSeq	Phase_I	109197272	NM_032227	B3KSQ8|F5H2P2	Silent	SNP	ENST00000372073.1	37	CCDS14550.2																																																																																				0.423	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227	
AMMECR1	9949	broad.mit.edu	37	X	109445740	109445740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:109445740C>A	ENST00000262844.5	-	4	891	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	AMMECR1_ENST00000372057.1_Nonsense_Mutation_p.E119*|AMMECR1_ENST00000372059.2_Nonsense_Mutation_p.E205*	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	242	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.E242*(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						TTGATGAATTCTATTCTAATG	0.368																																					p.E119X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G355T	X						.						122.0	97.0	105.0					X																	109445740		2203	4300	6503	109332396	SO:0001587	stop_gained	9949	exon6			AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.724G>T	X.37:g.109445740C>A	ENSP00000262844:p.Glu242*	Somatic		Capture	Illumina HiSeq	Phase_I	109332396	NM_001171689	Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Nonsense_Mutation	SNP	ENST00000262844.5	37	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	C	38	7.077033	0.98048	.	.	ENSG00000101935	ENST00000262844;ENST00000372059;ENST00000372057	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.6865	19.4377	0.94804	0.0:1.0:0.0:0.0	.	.	.	.	X	242;205;119	.	ENSP00000262844:E242X	E	-	1	0	AMMECR1	109332396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.744000	0.68664	2.544000	0.85801	0.594000	0.82650	GAA		0.368	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1		
PAK3	5063	broad.mit.edu	37	X	110406218	110406218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:110406218G>T	ENST00000372010.1	+	10	1031	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	PAK3_ENST00000417227.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.E218*|PAK3_ENST00000360648.4_Nonsense_Mutation_p.E218*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000519681.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000372007.5_Nonsense_Mutation_p.E182*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.E197*			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagaagaagatgaaAA	0.408										TSP Lung(19;0.15)																											p.E182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G544T	X						.						155.0	135.0	142.0					X																	110406218		2203	4300	6503	110292874	SO:0001587	stop_gained	5063	exon7			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.589G>T	X.37:g.110406218G>T	ENSP00000361080:p.Glu197*	Somatic		Capture	Illumina HiSeq	Phase_I	110292874	NM_001128166	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Nonsense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	42	9.339266	0.99142	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	.	.	.	5.95	5.95	0.96441	.	0.063753	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	17.909	0.88928	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;197;203;182;218;218;203;197	.	ENSP00000262836:E197X	E	+	1	0	PAK3	110292874	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.414000	0.90238	2.504000	0.84457	0.600000	0.82982	GAA		0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
DCX	1641	broad.mit.edu	37	X	110544917	110544917	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:110544917A>G	ENST00000338081.3	-	7	1495	c.1324T>C	c.(1324-1326)Taa>Caa	p.*442Q	DCX_ENST00000356220.3_Nonstop_Mutation_p.*366Q|DCX_ENST00000356915.2_Nonstop_Mutation_p.*366Q|DCX_ENST00000371993.2_Nonstop_Mutation_p.*361Q|DCX_ENST00000488120.1_Nonstop_Mutation_p.*361Q	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	0					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.*442Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCCCTCCTTTACATGGAATCA	0.453																																					p.X361Q												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T1081C	X						.						176.0	148.0	158.0					X																	110544917		2203	4300	6503	110431573	SO:0001578	stop_lost	1641	exon7			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1324T>C	X.37:g.110544917A>G	ENSP00000337697:p.*442Gluext*48	Somatic		Capture	Illumina HiSeq	Phase_I	110431573	NM_178153	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Nonstop_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	A	5.799	0.331739	0.10956	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4033	0.55424	1.0:0.0:0.0:0.0	.	.	.	.	Q	366;361;442;366;361	.	.	X	-	1	0	DCX	110431573	1.000000	0.71417	0.998000	0.56505	0.300000	0.27592	7.148000	0.77389	1.707000	0.51288	0.483000	0.47432	TAA		0.453	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
ALG13	79868	broad.mit.edu	37	X	110931224	110931224	+	Intron	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:110931224A>C	ENST00000394780.3	+	3	395				ALG13_ENST00000371979.3_Missense_Mutation_p.K165Q|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.K165Q(1)		endometrium(2)|lung(10)|skin(1)	13						TGGATTACAAAAATAAACACT	0.303																																					p.K165Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A493C	X						.						36.0	31.0	33.0					X																	110931224		2188	4284	6472	110817880	SO:0001627	intron_variant	79868	exon4			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.383+2893A>C	X.37:g.110931224A>C		Somatic		Capture	Illumina HiSeq	Phase_I	110817880	NM_018466	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698382	0.68386	.	.	ENSG00000101901	ENST00000371979	T	0.78003	-1.14	5.84	5.84	0.93424	.	.	.	.	.	T	0.76572	0.4006	.	.	.	0.80722	D	1	P	0.47302	0.893	P	0.47981	0.563	T	0.78534	-0.2167	8	0.62326	D	0.03	.	6.5999	0.22695	0.8514:0.0:0.1486:0.0	.	165	Q9NP73-2	.	Q	165	ENSP00000361047:K165Q	ENSP00000361047:K165Q	K	+	1	0	ALG13	110817880	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.384000	0.34396	1.964000	0.57103	0.441000	0.28932	AAA		0.303	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	
TRPC5	7224	broad.mit.edu	37	X	111090573	111090573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:111090573G>A	ENST00000262839.2	-	6	2387	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	490					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S490L(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGACGCAACGAACTTAAAAT	0.463																																					p.S490L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1469T	X						.						147.0	123.0	131.0					X																	111090573		2203	4300	6503	110977229	SO:0001583	missense	7224	exon6			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1469C>T	X.37:g.111090573G>A	ENSP00000262839:p.Ser490Leu	Somatic		Capture	Illumina HiSeq	Phase_I	110977229	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081694	0.94050	.	.	ENSG00000072315	ENST00000262839	D	0.98090	-4.71	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	M	0.80982	2.52	0.80722	D	1	P;D	0.62365	0.882;0.991	B;P	0.56612	0.393;0.802	D	0.98192	1.0463	10	0.33940	T	0.23	0.0239	18.5562	0.91085	0.0:0.0:1.0:0.0	.	491;490	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	490	ENSP00000262839:S490L	ENSP00000262839:S490L	S	-	2	0	TRPC5	110977229	1.000000	0.71417	0.936000	0.37596	0.988000	0.76386	9.814000	0.99346	2.325000	0.78763	0.529000	0.55759	TCG		0.463	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	
HTR2C	3358	broad.mit.edu	37	X	114082716	114082716	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408																																					p.S167L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500T	X						.						126.0	106.0	113.0					X																	114082716		2203	4300	6503	113988972	SO:0001583	missense	3358	exon5				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.500C>T	X.37:g.114082716C>T	ENSP00000276198:p.Ser167Leu	Somatic		Capture	Illumina HiSeq	Phase_I	113988972	NM_000868	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713163	0.89112	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.41400	1.0;1.0	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69369	0.3103	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77112	-0.2708	10	0.87932	D	0	.	13.3413	0.60547	0.0:1.0:0.0:0.0	.	167	P28335	5HT2C_HUMAN	L	167	ENSP00000276198:S167L;ENSP00000361019:S167L	ENSP00000276198:S167L	S	+	2	0	HTR2C	113988972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	1.704000	0.51252	0.544000	0.68410	TCG		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
KLHL13	90293	broad.mit.edu	37	X	117043788	117043788	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:117043788T>C	ENST00000262820.3	-	5	1751	c.842A>G	c.(841-843)aAc>aGc	p.N281S	KLHL13_ENST00000539496.1_Missense_Mutation_p.N284S|KLHL13_ENST00000540167.1_Missense_Mutation_p.N265S|KLHL13_ENST00000371882.1_Missense_Mutation_p.N230S|KLHL13_ENST00000545703.1_Missense_Mutation_p.N239S|KLHL13_ENST00000541812.1_Missense_Mutation_p.N265S|KLHL13_ENST00000371876.1_Missense_Mutation_p.N230S|KLHL13_ENST00000371878.1_Missense_Mutation_p.N230S|KLHL13_ENST00000469946.1_Missense_Mutation_p.N230S	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	281	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.N281S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAATCGTATGTTCTTCATTAA	0.433																																					p.N275S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A824G	X						.						108.0	93.0	98.0					X																	117043788		2203	4300	6503	116927816	SO:0001583	missense	90293	exon5			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.842A>G	X.37:g.117043788T>C	ENSP00000262820:p.Asn281Ser	Somatic		Capture	Illumina HiSeq	Phase_I	116927816	NM_001168300	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023303	0.54683	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.88	4.88	0.63580	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.66439	2.03	0.58432	D	0.999993	B;P;P;B	0.40660	0.257;0.726;0.591;0.157	B;B;B;B	0.42827	0.103;0.399;0.352;0.166	T	0.70472	-0.4862	10	0.46703	T	0.11	.	13.6157	0.62105	0.0:0.0:0.0:1.0	.	265;284;275;281	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	S	230;230;230;230;265;265;284;281;239;230	ENSP00000360949:N230S;ENSP00000360943:N230S;ENSP00000360945:N230S;ENSP00000412640:N230S;ENSP00000444450:N265S;ENSP00000441029:N265S;ENSP00000443191:N284S;ENSP00000262820:N281S;ENSP00000440707:N239S;ENSP00000419803:N230S	ENSP00000262820:N281S	N	-	2	0	KLHL13	116927816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.819000	0.69243	1.787000	0.52448	0.481000	0.45027	AAC		0.433	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
WDR44	54521	broad.mit.edu	37	X	117544906	117544906	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:117544906C>T	ENST00000254029.3	+	12	2116	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	WDR44_ENST00000371822.5_Missense_Mutation_p.S549L|WDR44_ENST00000371825.3_Missense_Mutation_p.S574L	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	574						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.S574L(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCATCAAAATCGGATACAGAT	0.338																																					p.S549L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1646T	X						.						196.0	166.0	176.0					X																	117544906		2203	4300	6503	117428934	SO:0001583	missense	54521	exon11			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1721C>T	X.37:g.117544906C>T	ENSP00000254029:p.Ser574Leu	Somatic		Capture	Illumina HiSeq	Phase_I	117428934	NM_001184966	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939319	0.92526	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.75821	-0.97;-0.37;-0.26	5.02	5.02	0.67125	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.968;1.0;1.0;0.999	P;D;D;D	0.70227	0.636;0.929;0.968;0.936	D	0.85414	0.1139	10	0.54805	T	0.06	-17.9274	17.7979	0.88578	0.0:1.0:0.0:0.0	.	549;574;574;574	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	L	549;574;574	ENSP00000360887:S549L;ENSP00000254029:S574L;ENSP00000360890:S574L	ENSP00000254029:S574L	S	+	2	0	WDR44	117428934	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.359000	0.79477	2.221000	0.72209	0.600000	0.82982	TCG		0.338	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	
DOCK11	139818	broad.mit.edu	37	X	117744375	117744375	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:117744375C>T	ENST00000276202.7	+	28	3153	c.3090C>T	c.(3088-3090)ttC>ttT	p.F1030F	DOCK11_ENST00000276204.6_Silent_p.F1030F	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1030					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1030F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGCTAGCTTCCTGAAGGTGA	0.428																																					p.F1030F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3090T	X						.						91.0	79.0	83.0					X																	117744375		2203	4300	6503	117628403	SO:0001819	synonymous_variant	139818	exon28			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3090C>T	X.37:g.117744375C>T		Somatic		Capture	Illumina HiSeq	Phase_I	117628403	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																				0.428	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
ATP1B4	23439	broad.mit.edu	37	X	119513481	119513481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:119513481G>T	ENST00000218008.3	+	8	1123	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	ATP1B4_ENST00000539306.1_Nonsense_Mutation_p.E313*|ATP1B4_ENST00000361319.3_Nonsense_Mutation_p.E352*	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	356					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.E352*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CCTGAACATAGAAACTTAAGA	0.428																																					p.E356X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1066T	X						.						87.0	76.0	80.0					X																	119513481		2203	4300	6503	119397509	SO:0001587	stop_gained	23439	exon8			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.1066G>T	X.37:g.119513481G>T	ENSP00000218008:p.Glu356*	Somatic		Capture	Illumina HiSeq	Phase_I	119397509	NM_001142447	Q17RR0|Q9UN41	Nonsense_Mutation	SNP	ENST00000218008.3	37	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096070	0.76870	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	.	.	.	5.03	5.03	0.67393	.	0.159060	0.56097	D	0.000025	.	.	.	.	.	.	0.27601	N	0.948975	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-27.0925	16.6157	0.84915	0.0:0.0:1.0:0.0	.	.	.	.	X	356;352;313	.	ENSP00000218008:E356X	E	+	1	0	ATP1B4	119397509	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.736000	0.91554	2.213000	0.71641	0.600000	0.82982	GAA		0.428	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447	
CUL4B	8450	broad.mit.edu	37	X	119666282	119666282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:119666282C>A	ENST00000404115.3	-	20	2889	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	CUL4B_ENST00000371322.5_Nonsense_Mutation_p.E812*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.E817*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	830					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E830*(2)|p.E812*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATACCGTTTCTTTCATCTGG	0.299																																					p.E812X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G2434T	X						.						92.0	82.0	85.0					X																	119666282		2203	4300	6503	119550310	SO:0001587	stop_gained	8450	exon18			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2488G>T	X.37:g.119666282C>A	ENSP00000384109:p.Glu830*	Somatic		Capture	Illumina HiSeq	Phase_I	119550310	NM_001079872	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	39	7.651120	0.98412	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.6261	16.8778	0.86056	0.0:1.0:0.0:0.0	.	.	.	.	X	812;817;830	.	.	E	-	1	0	CUL4B	119550310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.191000	0.70037	0.513000	0.50165	GAA		0.299	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	
GRIA3	2892	broad.mit.edu	37	X	122387197	122387197	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:122387197C>A	ENST00000371251.1	+	3	364	c.312C>A	c.(310-312)ttC>ttA	p.F104L	GRIA3_ENST00000542149.1_Missense_Mutation_p.F104L|GRIA3_ENST00000371256.5_Missense_Mutation_p.F104L|GRIA3_ENST00000264357.5_Missense_Mutation_p.F104L|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.F88L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	104					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.F104L(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TCTTTGGATTCTATGACCAGA	0.488																																					p.F104L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C312A	X						.						178.0	135.0	150.0					X																	122387197		2203	4300	6503	122214878	SO:0001583	missense	2892	exon3			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.312C>A	X.37:g.122387197C>A	ENSP00000360297:p.Phe104Leu	Somatic		Capture	Illumina HiSeq	Phase_I	122214878	NM_007325	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660073	0.29515	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.63	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.14661	0.345	0.80722	D	1	B;D;D	0.63880	0.057;0.993;0.992	B;D;D	0.74348	0.031;0.983;0.971	T	0.04400	-1.0954	10	0.02654	T	1	.	12.9661	0.58485	0.0:0.9204:0.0:0.0796	.	88;104;104	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	L	104;104;104;104;88	ENSP00000264357:F104L;ENSP00000446146:F104L;ENSP00000360302:F104L;ENSP00000360297:F104L;ENSP00000446440:F88L	ENSP00000264357:F104L	F	+	3	2	GRIA3	122214878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.037000	0.57311	1.263000	0.44181	0.513000	0.50165	TTC		0.488	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
DCAF12L2	340578	broad.mit.edu	37	X	125299408	125299408	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:125299408C>T	ENST00000360028.2	-	1	526	c.500G>A	c.(499-501)gGc>gAc	p.G167D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G167D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	167								p.G167D(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTTTCGCCGCCGGTGGCCAG	0.677																																					p.G167D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	X						.						64.0	71.0	69.0					X																	125299408		2203	4300	6503	125127089	SO:0001583	missense	340578	exon1			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.500G>A	X.37:g.125299408C>T	ENSP00000353128:p.Gly167Asp	Somatic		Capture	Illumina HiSeq	Phase_I	125127089	NM_001013628	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359701	0.41801	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.72167	-0.63;-0.63	4.09	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.33792	N	0.004553	D	0.83151	0.5192	M	0.82716	2.605	0.49582	D	0.999803	D	0.89917	1.0	D	0.91635	0.999	D	0.85128	0.0973	10	0.87932	D	0	.	10.6807	0.45813	0.0:1.0:0.0:0.0	.	167	Q5VW00	DC122_HUMAN	D	167	ENSP00000441489:G167D;ENSP00000353128:G167D	ENSP00000353128:G167D	G	-	2	0	DCAF12L2	125127089	1.000000	0.71417	0.088000	0.20740	0.005000	0.04900	5.074000	0.64401	2.283000	0.76528	0.544000	0.68410	GGC		0.677	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
ACTRT1	139741	broad.mit.edu	37	X	127185068	127185068	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:127185068C>A	ENST00000371124.3	-	1	1314	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R373I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AAAGCACCTTCTTTGAACCAC	0.473																																					p.R373I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118T	X						.						165.0	156.0	159.0					X																	127185068		2203	4300	6503	127012749	SO:0001583	missense	139741	exon1			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1118G>T	X.37:g.127185068C>A	ENSP00000360165:p.Arg373Ile	Somatic		Capture	Illumina HiSeq	Phase_I	127012749	NM_138289	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249919	0.39797	.	.	ENSG00000123165	ENST00000371124	D	0.95272	-3.66	4.23	3.37	0.38596	.	0.195940	0.35838	N	0.002946	D	0.97161	0.9072	M	0.90369	3.11	0.51482	D	0.999927	D	0.89917	1.0	D	0.81914	0.995	D	0.96802	0.9590	10	0.87932	D	0	.	9.8411	0.40999	0.0:0.8917:0.0:0.1083	.	373	Q8TDG2	ACTT1_HUMAN	I	373	ENSP00000360165:R373I	ENSP00000360165:R373I	R	-	2	0	ACTRT1	127012749	0.464000	0.25807	0.302000	0.25058	0.005000	0.04900	4.374000	0.59543	0.887000	0.36136	-0.176000	0.13171	AGA		0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
SMARCA1	6594	broad.mit.edu	37	X	128624085	128624085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:128624085C>A	ENST00000371122.4	-	15	2029	c.1900G>T	c.(1900-1902)Gaa>Taa	p.E634*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E622*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E622*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	634	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E634*(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCAGCTCTTTCTACAATCCTC	0.358																																					p.E634X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1900T	X						.						129.0	108.0	115.0					X																	128624085		2203	4300	6503	128451766	SO:0001587	stop_gained	6594	exon15			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1900G>T	X.37:g.128624085C>A	ENSP00000360163:p.Glu634*	Somatic		Capture	Illumina HiSeq	Phase_I	128451766	NM_003069	Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	41	8.746142	0.98937	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.0747	18.1631	0.89716	0.0:1.0:0.0:0.0	.	.	.	.	X	622;622;634;613	.	ENSP00000360162:E622X	E	-	1	0	SMARCA1	128451766	1.000000	0.71417	0.959000	0.39883	0.934000	0.57294	7.776000	0.85560	2.313000	0.78055	0.523000	0.50628	GAA		0.358	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
SMARCA1	6594	broad.mit.edu	37	X	128650350	128650350	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:128650350C>T	ENST00000371122.4	-	3	515	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R129Q|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R129Q|SMARCA1_ENST00000478420.1_Intron	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	129					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R129Q(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTCTTTATTCGGGGACGTCC	0.413																																					p.R129Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G386A	X						.						140.0	138.0	139.0					X																	128650350		2203	4300	6503	128478031	SO:0001583	missense	6594	exon3			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.386G>A	X.37:g.128650350C>T	ENSP00000360163:p.Arg129Gln	Somatic		Capture	Illumina HiSeq	Phase_I	128478031	NM_003069	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126769	0.77549	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.8	5.37	5.37	0.77165	.	0.000000	0.49916	D	0.000127	D	0.86464	0.5939	L	0.47716	1.5	0.58432	D	0.999999	P;P;P;P	0.46220	0.693;0.801;0.874;0.801	B;B;B;B	0.36289	0.148;0.11;0.221;0.148	D	0.85632	0.1271	10	0.25751	T	0.34	-6.9522	18.1668	0.89731	0.0:1.0:0.0:0.0	.	108;129;129;129	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	Q	129;129;129;108	ENSP00000360162:R129Q;ENSP00000360164:R129Q;ENSP00000360163:R129Q;ENSP00000404275:R108Q	ENSP00000360162:R129Q	R	-	2	0	SMARCA1	128478031	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.896000	0.63222	2.226000	0.72624	0.600000	0.82982	CGA		0.413	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
IGSF1	3547	broad.mit.edu	37	X	130409517	130409517	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:130409517T>C	ENST00000361420.3	-	16	3198	c.3119A>G	c.(3118-3120)tAc>tGc	p.Y1040C	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y1045C|IGSF1_ENST00000370910.1_Missense_Mutation_p.Y1031C|IGSF1_ENST00000370904.1_Missense_Mutation_p.Y1031C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1040	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Y1040C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCAGGGTGGTAGCAGCAGCT	0.527																																					p.Y1031C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3092G	X						.						161.0	134.0	143.0					X																	130409517		2203	4300	6503	130237198	SO:0001583	missense	3547	exon15			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3119A>G	X.37:g.130409517T>C	ENSP00000355010:p.Tyr1040Cys	Somatic		Capture	Illumina HiSeq	Phase_I	130237198	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052426	0.55218	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.32	5.32	0.75619	Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000713	T	0.40423	0.1116	M	0.86740	2.835	0.47374	D	0.999404	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.988;1.0;0.998	T	0.35724	-0.9777	10	0.46703	T	0.11	.	10.9266	0.47195	0.0:0.0:0.0:1.0	.	1031;484;1040	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1031;1040;1031;1045	ENSP00000359947:Y1031C;ENSP00000355010:Y1040C;ENSP00000359941:Y1031C;ENSP00000359940:Y1045C	ENSP00000355010:Y1040C	Y	-	2	0	IGSF1	130237198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.834000	0.55798	2.045000	0.60652	0.486000	0.48141	TAC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
SAGE1	55511	broad.mit.edu	37	X	134992711	134992711	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:134992711C>A	ENST00000370709.3	+	15	2002	c.2002C>A	c.(2002-2004)Ctg>Atg	p.L668M	SAGE1_ENST00000537770.1_Missense_Mutation_p.L292M|SAGE1_ENST00000324447.3_Missense_Mutation_p.L668M|SAGE1_ENST00000535938.1_Missense_Mutation_p.L668M			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	668						nucleus (GO:0005634)		p.L668M(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TACCAGGGATCTGTGTATGTC	0.423																																					p.L668M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2002A	X						.						144.0	122.0	130.0					X																	134992711		2203	4300	6503	134820377	SO:0001583	missense	55511	exon16			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2002C>A	X.37:g.134992711C>A	ENSP00000359743:p.Leu668Met	Somatic		Capture	Illumina HiSeq	Phase_I	134820377	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303401	0.23736	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.37752	1.18;1.18;1.23;1.18	0.494	0.494	0.16884	.	0.106822	0.64402	N	0.000012	T	0.38134	0.1029	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.997;1.0	T	0.13602	-1.0503	9	0.37606	T	0.19	.	.	.	.	.	292;668	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	M	668;668;292;668	ENSP00000323191:L668M;ENSP00000445959:L668M;ENSP00000438276:L292M;ENSP00000359743:L668M	ENSP00000323191:L668M	L	+	1	2	SAGE1	134820377	0.011000	0.17503	0.056000	0.19401	0.121000	0.20230	1.049000	0.30392	0.497000	0.27926	0.287000	0.19450	CTG		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
GPR112	139378	broad.mit.edu	37	X	135429782	135429782	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:135429782A>C	ENST00000394143.1	+	6	4208	c.3917A>C	c.(3916-3918)aAa>aCa	p.K1306T	GPR112_ENST00000287534.4_Missense_Mutation_p.K1243T|GPR112_ENST00000412101.1_Missense_Mutation_p.K1101T|GPR112_ENST00000394141.1_Missense_Mutation_p.K1101T|GPR112_ENST00000370652.1_Missense_Mutation_p.K1306T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1306					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K1306T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGACCACAAAAATTTCCAGT	0.438																																					p.K1306T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3917C	X						.						66.0	60.0	62.0					X																	135429782		2203	4300	6503	135257448	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3917A>C	X.37:g.135429782A>C	ENSP00000377699:p.Lys1306Thr	Somatic		Capture	Illumina HiSeq	Phase_I	135257448	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.424773	0.00186	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33438	1.44;1.44;1.41;1.54;1.41	2.92	-0.948	0.10379	.	.	.	.	.	T	0.10423	0.0255	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.10450	0.003;0.005;0.002	T	0.28996	-1.0026	9	0.20046	T	0.44	.	0.9791	0.01432	0.4918:0.198:0.1319:0.1783	.	1243;1101;1306	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1306;1306;1101;1243;1101	ENSP00000377699:K1306T;ENSP00000359686:K1306T;ENSP00000416526:K1101T;ENSP00000287534:K1243T;ENSP00000377697:K1101T	ENSP00000287534:K1243T	K	+	2	0	GPR112	135257448	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	0.180000	0.16860	-0.583000	0.05921	-2.202000	0.00303	AAA		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135470009	135470009	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:135470009C>A	ENST00000394143.1	+	16	8178	c.7887C>A	c.(7885-7887)ttC>ttA	p.F2629L	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.F2424L|GPR112_ENST00000394141.1_Missense_Mutation_p.F2424L|GPR112_ENST00000370652.1_Missense_Mutation_p.F2629L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2629					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F2629L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTTTAATTTCTTTGGCCAAA	0.388																																					p.F2629L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7887A	X						.						147.0	144.0	145.0					X																	135470009		2203	4300	6503	135297675	SO:0001583	missense	139378	exon16			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7887C>A	X.37:g.135470009C>A	ENSP00000377699:p.Phe2629Leu	Somatic		Capture	Illumina HiSeq	Phase_I	135297675	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850802	0.71719	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.29142	1.61;1.61;1.58;1.58	5.5	1.18	0.20946	.	.	.	.	.	T	0.46210	0.1381	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.993	T	0.24404	-1.0161	9	0.59425	D	0.04	.	8.4735	0.32999	0.0:0.6044:0.0:0.3956	.	2424;2629	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2629;2629;2424;2424	ENSP00000377699:F2629L;ENSP00000359686:F2629L;ENSP00000416526:F2424L;ENSP00000377697:F2424L	ENSP00000359686:F2629L	F	+	3	2	GPR112	135297675	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.656000	0.24948	-0.118000	0.11851	0.600000	0.82982	TTC		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135496371	135496371	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:135496371G>T	ENST00000394143.1	+	25	9381	c.9090G>T	c.(9088-9090)aaG>aaT	p.K3030N	GPR112_ENST00000287534.4_Missense_Mutation_p.K2749N|GPR112_ENST00000412101.1_Missense_Mutation_p.K2825N|GPR112_ENST00000394141.1_Missense_Mutation_p.K2825N|GPR112_ENST00000370652.1_Missense_Mutation_p.K3030N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3030					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K3030N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGGACTAAAGAAAATCTTTG	0.393																																					p.K3030N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9090T	X						.						121.0	123.0	122.0					X																	135496371		2203	4300	6503	135324037	SO:0001583	missense	139378	exon25			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9090G>T	X.37:g.135496371G>T	ENSP00000377699:p.Lys3030Asn	Somatic		Capture	Illumina HiSeq	Phase_I	135324037	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850791	0.17034	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33438	1.45;1.45;1.41;1.66;1.41	5.27	3.2	0.36748	.	.	.	.	.	T	0.38957	0.1060	L	0.43152	1.355	0.09310	N	1	D;P	0.67145	0.996;0.956	P;P	0.62184	0.899;0.63	T	0.14282	-1.0478	9	0.72032	D	0.01	.	4.6746	0.12706	0.1135:0.0:0.616:0.2705	.	2825;3030	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	N	3030;3030;2825;2749;2825	ENSP00000377699:K3030N;ENSP00000359686:K3030N;ENSP00000416526:K2825N;ENSP00000287534:K2749N;ENSP00000377697:K2825N	ENSP00000287534:K2749N	K	+	3	2	GPR112	135324037	0.845000	0.29573	0.653000	0.29593	0.024000	0.10985	0.377000	0.20552	1.108000	0.41662	0.506000	0.49869	AAG		0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
CD40LG	959	broad.mit.edu	37	X	135730455	135730455	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:135730455A>G	ENST00000370629.2	+	1	104	c.48A>G	c.(46-48)ggA>ggG	p.G16G	CD40LG_ENST00000370628.2_Silent_p.G16G	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	16					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.G16G(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CGGCCACTGGACTGCCCATCA	0.428									Immune Deficiency with Hyper-IgM																												p.G16G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A48G	X						.						157.0	147.0	151.0					X																	135730455		2203	4300	6503	135558121	SO:0001819	synonymous_variant	959	exon1	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.48A>G	X.37:g.135730455A>G		Somatic		Capture	Illumina HiSeq	Phase_I	135558121	NM_000074		Silent	SNP	ENST00000370629.2	37	CCDS14659.1																																																																																				0.428	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
CD40LG	959	broad.mit.edu	37	X	135741202	135741202	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:135741202A>G	ENST00000370629.2	+	5	470	c.414A>G	c.(412-414)ttA>ttG	p.L138L	CD40LG_ENST00000370628.2_Silent_p.L117L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	138					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.L138L(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TAACAGTGTTACAGTGGGCTG	0.388									Immune Deficiency with Hyper-IgM																												p.L138L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A414G	X						.						236.0	238.0	237.0					X																	135741202		2203	4299	6502	135568868	SO:0001819	synonymous_variant	959	exon5	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.414A>G	X.37:g.135741202A>G		Somatic		Capture	Illumina HiSeq	Phase_I	135568868	NM_000074		Silent	SNP	ENST00000370629.2	37	CCDS14659.1																																																																																				0.388	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
ARHGEF6	9459	broad.mit.edu	37	X	135795499	135795499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:135795499C>A	ENST00000250617.6	-	7	1968	c.763G>T	c.(763-765)Gaa>Taa	p.E255*	ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E128*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E101*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E101*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	255	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E255*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATATTCTTTTTCAGTG	0.328																																					p.E255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G763T	X						.						133.0	117.0	123.0					X																	135795499		2203	4300	6503	135623165	SO:0001587	stop_gained	9459	exon7			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.763G>T	X.37:g.135795499C>A	ENSP00000250617:p.Glu255*	Somatic		Capture	Illumina HiSeq	Phase_I	135623165	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Nonsense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	40	8.411686	0.98799	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	.	.	.	5.85	5.85	0.93711	.	0.229594	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.2928	0.49261	0.0:0.9139:0.0:0.0861	.	.	.	.	X	255;101;101;101;128	.	ENSP00000250617:E255X	E	-	1	0	ARHGEF6	135623165	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.223000	0.65283	2.464000	0.83262	0.513000	0.50165	GAA		0.328	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
GPR101	83550	broad.mit.edu	37	X	136112475	136112475	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:136112475G>T	ENST00000298110.1	-	1	1358	c.1359C>A	c.(1357-1359)gtC>gtA	p.V453V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	453						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V453V(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGTAGCCATAGACATAGGGGT	0.512																																					p.V453V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1359A	X						.						120.0	102.0	108.0					X																	136112475		2203	4300	6503	135940141	SO:0001819	synonymous_variant	83550	exon1			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1359C>A	X.37:g.136112475G>T		Somatic		Capture	Illumina HiSeq	Phase_I	135940141	NM_054021	Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	CCDS14662.1																																																																																				0.512	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
F9	2158	broad.mit.edu	37	X	138644029	138644029	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:138644029C>A	ENST00000218099.2	+	8	1192	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	F9_ENST00000394090.2_Missense_Mutation_p.F357L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	395	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		F -> I (in HEMB). {ECO:0000269|PubMed:12588353}.|F -> L (in HEMB). {ECO:0000269|PubMed:12604421}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.F395L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	ACAACATGTTCTGTGCTGGCT	0.443																																					p.F395L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1185A	X	GRCh37	CM032222	F9	M		.						119.0	110.0	113.0					X																	138644029		2203	4300	6503	138471695	SO:0001583	missense	2158	exon8			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1185C>A	X.37:g.138644029C>A	ENSP00000218099:p.Phe395Leu	Somatic		Capture	Illumina HiSeq	Phase_I	138471695	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179230	0.94846	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.86694	-2.16;-2.16	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	N	0.05031	-0.125	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.959	D	0.90114	0.4194	10	0.59425	D	0.04	.	17.5372	0.87835	0.0:1.0:0.0:0.0	.	357;395	Q5FBE1;P00740	.;FA9_HUMAN	L	395;357	ENSP00000218099:F395L;ENSP00000377650:F357L	ENSP00000218099:F395L	F	+	3	2	F9	138471695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.766000	0.38491	2.356000	0.79943	0.600000	0.82982	TTC		0.443	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
MCF2	4168	broad.mit.edu	37	X	138698447	138698447	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:138698447C>A	ENST00000370576.4	-	9	1394	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	MCF2_ENST00000414978.1_Missense_Mutation_p.E455D|MCF2_ENST00000338585.6_Missense_Mutation_p.E395D|MCF2_ENST00000536274.1_Missense_Mutation_p.E356D|MCF2_ENST00000519895.1_Missense_Mutation_p.E455D|MCF2_ENST00000370573.4_Missense_Mutation_p.E395D|MCF2_ENST00000370578.4_Missense_Mutation_p.E540D|MCF2_ENST00000520602.1_Missense_Mutation_p.E455D|MCF2_ENST00000483690.1_5'Flank	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	395					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E455D(1)|p.E395D(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTACCTTAAGCTCAGGAGATA	0.313																																					p.E455D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1365T	X						.						21.0	20.0	20.0					X																	138698447		2200	4273	6473	138526113	SO:0001583	missense	4168	exon12				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1185G>T	X.37:g.138698447C>A	ENSP00000359608:p.Glu395Asp	Somatic		Capture	Illumina HiSeq	Phase_I	138526113	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	8.451	0.853055	0.17106	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.42513	1.16;1.05;0.97;1.15;1.16;1.19;1.07;1.08	5.68	0.151	0.14888	.	0.093395	0.64402	D	0.000001	T	0.41373	0.1156	L	0.33093	0.98	0.26129	N	0.980445	B;D;B;B;B;B;D;B	0.59767	0.017;0.976;0.029;0.068;0.146;0.017;0.986;0.09	B;P;B;B;B;B;P;B	0.59424	0.103;0.724;0.209;0.147;0.174;0.103;0.857;0.103	T	0.40720	-0.9548	10	0.19590	T	0.45	.	10.2285	0.43241	0.0:0.363:0.0:0.637	.	455;540;356;395;395;540;395;395	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	D	455;395;356;540;455;455;395;395	ENSP00000427745:E455D;ENSP00000359608:E395D;ENSP00000438155:E356D;ENSP00000359610:E540D;ENSP00000397055:E455D;ENSP00000430276:E455D;ENSP00000359605:E395D;ENSP00000342204:E395D	ENSP00000342204:E395D	E	-	3	2	MCF2	138526113	0.992000	0.36948	0.997000	0.53966	0.674000	0.39518	0.179000	0.16840	-0.200000	0.10300	-0.480000	0.04831	GAG		0.313	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
ATP11C	286410	broad.mit.edu	37	X	138880436	138880436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:138880436C>A	ENST00000327569.3	-	10	960	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E288*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E288*|ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E288*|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.E285*	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	288					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E288*(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTAACTTTTCAACAGCAGAA	0.313																																					p.E288X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G862T	X						.						108.0	92.0	97.0					X																	138880436		2203	4299	6502	138708102	SO:0001587	stop_gained	286410	exon10			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.862G>T	X.37:g.138880436C>A	ENSP00000332756:p.Glu288*	Somatic		Capture	Illumina HiSeq	Phase_I	138708102	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	40	8.423698	0.98806	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.68	5.68	0.88126	.	0.050848	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6348	0.88119	0.0:1.0:0.0:0.0	.	.	.	.	X	285;288;288;288;288	.	ENSP00000332756:E288X	E	-	1	0	ATP11C	138708102	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.381000	0.81170	0.523000	0.50628	GAA		0.313	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
MAGEC1	9947	broad.mit.edu	37	X	140994645	140994645	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:140994645C>A	ENST00000285879.4	+	4	1741	c.1455C>A	c.(1453-1455)tcC>tcA	p.S485S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	485								p.S485S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCTCCTCCTCCTCCTCCT	0.478										HNSCC(15;0.026)																											p.S485S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455A	X						.						117.0	129.0	125.0					X																	140994645		2203	4300	6503	140822311	SO:0001819	synonymous_variant	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1455C>A	X.37:g.140994645C>A		Somatic		Capture	Illumina HiSeq	Phase_I	140822311	NM_005462	A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140995237	140995237	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:140995237C>T	ENST00000285879.4	+	4	2333	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	683								p.P683S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTGCTCCTGAGGGGGA	0.572										HNSCC(15;0.026)																											p.P683S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2047T	X						.						66.0	69.0	68.0					X																	140995237		2203	4300	6503	140822903	SO:0001583	missense	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2047C>T	X.37:g.140995237C>T	ENSP00000285879:p.Pro683Ser	Somatic		Capture	Illumina HiSeq	Phase_I	140822903	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	10.77	1.445006	0.25987	.	.	ENSG00000155495	ENST00000285879	T	0.03301	3.98	0.92	0.92	0.19397	.	.	.	.	.	T	0.03095	0.0091	N	0.19112	0.55	0.80722	D	1	P	0.51933	0.949	P	0.45998	0.5	T	0.61382	-0.7074	9	0.30854	T	0.27	.	7.6329	0.28249	0.0:0.9999:0.0:1.0E-4	.	683	O60732	MAGC1_HUMAN	S	683	ENSP00000285879:P683S	ENSP00000285879:P683S	P	+	1	0	MAGEC1	140822903	0.002000	0.14202	0.027000	0.17364	0.027000	0.11550	0.200000	0.17257	0.179000	0.19938	0.181000	0.17075	CCT		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
SPANXN2	494119	broad.mit.edu	37	X	142795192	142795192	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:142795192C>A	ENST00000370498.1	-	2	1239	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	162								p.Q162H(1)|p.P8H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCGTCCTCCTGTGAAGATC	0.493																																					p.Q162H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G486T	X						.						323.0	294.0	304.0					X																	142795192		2203	4300	6503	142622858	SO:0001583	missense	494119	exon2				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.486G>T	X.37:g.142795192C>A	ENSP00000359529:p.Gln162His	Somatic		Capture	Illumina HiSeq	Phase_I	142622858	NM_001009615	Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	6.757	0.508539	0.12883	.	.	ENSG00000203924	ENST00000370498	T	0.08193	3.12	0.562	0.562	0.17290	.	.	.	.	.	T	0.08891	0.0220	L	0.35854	1.095	0.09310	N	1	P	0.50156	0.932	P	0.46208	0.507	T	0.28459	-1.0043	8	0.72032	D	0.01	.	.	.	.	.	162	Q5MJ10	SPXN2_HUMAN	H	162	ENSP00000359529:Q162H	ENSP00000359529:Q162H	Q	-	3	2	SPANXN2	142622858	0.057000	0.20700	0.004000	0.12327	0.063000	0.16089	-0.068000	0.11561	0.535000	0.28714	0.151000	0.16131	CAG		0.493	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615	
UBE2NL	389898	broad.mit.edu	37	X	142967459	142967459	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:142967459G>T	ENST00000370494.1	+	1	287	c.257G>T	c.(256-258)aGa>aTa	p.R86I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	86						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R86I(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGGAAAGAATAAGTTTA	0.403																																					p.R86I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G257T	X						.						83.0	77.0	79.0					X																	142967459		2203	4300	6503	142795125	SO:0001583	missense	389898	exon1					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.257G>T	X.37:g.142967459G>T	ENSP00000359525:p.Arg86Ile	Somatic		Capture	Illumina HiSeq	Phase_I	142795125	NM_001012989	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	g	6.782	0.513231	0.12944	.	.	ENSG00000102069	ENST00000370494	T	0.39592	1.07	1.06	-1.02	0.10135	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.113720	0.31685	N	0.007227	T	0.69504	0.3118	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.63659	-0.6587	10	0.87932	D	0	-0.0347	3.2831	0.06922	0.1844:0.0:0.5664:0.2492	.	86	Q5JXB2	UE2NL_HUMAN	I	86	ENSP00000359525:R86I	ENSP00000359525:R86I	R	+	2	0	UBE2NL	142795125	1.000000	0.71417	0.907000	0.35723	0.000000	0.00434	4.953000	0.63624	-0.433000	0.07286	-3.074000	0.00066	AGA		0.403	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
SLITRK2	84631	broad.mit.edu	37	X	144904947	144904947	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:144904947C>A	ENST00000370490.1	+	1	5259	c.1004C>A	c.(1003-1005)cCt>cAt	p.P335H	SLITRK2_ENST00000413937.2_Missense_Mutation_p.P335H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P335H|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P335H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P335H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	335	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P335H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAGTCTCCTGTGCCTCTC	0.502																																					p.P335H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1004A	X						.						74.0	67.0	69.0					X																	144904947		2203	4300	6503	144712639	SO:0001583	missense	84631	exon3			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1004C>A	X.37:g.144904947C>A	ENSP00000359521:p.Pro335His	Somatic		Capture	Illumina HiSeq	Phase_I	144712639	NM_001144006	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037435	0.75617	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.58210	0.42;0.35;0.35;0.35;0.35;0.35	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75079	-0.3444	10	0.51188	T	0.08	-6.4612	15.945	0.79787	0.0:1.0:0.0:0.0	.	335	Q9H156	SLIK2_HUMAN	H	335	ENSP00000334374:P335H;ENSP00000411681:P335H;ENSP00000359521:P335H;ENSP00000397015:P335H;ENSP00000407347:P335H;ENSP00000412010:P335H	ENSP00000334374:P335H	P	+	2	0	SLITRK2	144712639	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.365000	0.80145	0.600000	0.82982	CCT		0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
FMR1NB	158521	broad.mit.edu	37	X	147088297	147088297	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:147088297G>T	ENST00000370467.3	+	3	547	c.473G>T	c.(472-474)aGa>aTa	p.R158I	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	158	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.R158I(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAATGTTTGAGACACAAATGC	0.353																																					p.R158I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473T	X						.						191.0	170.0	177.0					X																	147088297		2203	4300	6503	146895989	SO:0001583	missense	158521	exon3				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.473G>T	X.37:g.147088297G>T	ENSP00000359498:p.Arg158Ile	Somatic		Capture	Illumina HiSeq	Phase_I	146895989	NM_152578	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583723	0.28268	.	.	ENSG00000176988	ENST00000370467	T	0.35973	1.28	5.32	-5.0	0.03001	P-type trefoil (1);	1.477260	0.04262	N	0.340446	T	0.21962	0.0529	N	0.14661	0.345	0.09310	N	1	P	0.39624	0.681	B	0.39419	0.299	T	0.25012	-1.0144	10	0.40728	T	0.16	-1.262	8.8116	0.34971	0.6149:0.1129:0.2722:0.0	.	158	Q8N0W7	FMR1N_HUMAN	I	158	ENSP00000359498:R158I	ENSP00000359498:R158I	R	+	2	0	FMR1NB	146895989	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.187000	0.01250	-1.205000	0.02645	0.550000	0.68814	AGA		0.353	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578	
AFF2	2334	broad.mit.edu	37	X	148062285	148062285	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:148062285C>T	ENST00000370460.2	+	19	4067	c.3588C>T	c.(3586-3588)gtC>gtT	p.V1196V	AFF2_ENST00000286437.5_Silent_p.V837V|AFF2_ENST00000342251.3_Silent_p.V1163V|AFF2_ENST00000370457.5_Silent_p.V1161V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1196					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.V1196V(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAAAAGTCGCACAGATAC	0.348																																					p.V1196V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3588T	X						.						84.0	84.0	84.0					X																	148062285		2203	4300	6503	147869969	SO:0001819	synonymous_variant	2334	exon19			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3588C>T	X.37:g.148062285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	147869969	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MTMR1	8776	broad.mit.edu	37	X	149924281	149924281	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:149924281C>A	ENST00000370390.3	+	14	1934	c.1777C>A	c.(1777-1779)Cat>Aat	p.H593N	MTMR1_ENST00000541925.1_Missense_Mutation_p.H499N|MTMR1_ENST00000445323.2_Missense_Mutation_p.H601N|MTMR1_ENST00000544228.1_Missense_Mutation_p.H593N|MTMR1_ENST00000538506.1_3'UTR	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	593	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.H593N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCTGAGTCATTTGGAATT	0.363																																					p.H593N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1777A	X						.						171.0	150.0	157.0					X																	149924281		2203	4300	6503	149674939	SO:0001583	missense	8776	exon14			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1777C>A	X.37:g.149924281C>A	ENSP00000359417:p.His593Asn	Somatic		Capture	Illumina HiSeq	Phase_I	149674939	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205591	0.58234	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.64	5.64	0.86602	Myotubularin phosphatase domain (1);	0.092812	0.85682	D	0.000000	D	0.82692	0.5092	N	0.26042	0.785	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.14023	0.007;0.01	T	0.77587	-0.2532	10	0.12430	T	0.62	.	18.6614	0.91473	0.0:1.0:0.0:0.0	.	593;601	Q13613;F8WA39	MTMR1_HUMAN;.	N	499;593;601;593	ENSP00000441879:H499N;ENSP00000359417:H593N;ENSP00000414178:H601N;ENSP00000440534:H593N	ENSP00000359417:H593N	H	+	1	0	MTMR1	149674939	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	5.656000	0.67988	2.352000	0.79861	0.600000	0.82982	CAT		0.363	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
GABRE	2564	broad.mit.edu	37	X	151129803	151129803	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:151129803G>A	ENST00000370328.3	-	5	651	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	GABRE_ENST00000370325.1_Missense_Mutation_p.L200F|GABRE_ENST00000393914.3_Intron|MIR224_ENST00000384889.1_RNA|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	200					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L87F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAAATCTGAGCATGTGGAGT	0.517																																					p.L200F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C598T	X						.						136.0	123.0	127.0					X																	151129803		2203	4300	6503	150880459	SO:0001583	missense	2564	exon5			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.598C>T	X.37:g.151129803G>A	ENSP00000359353:p.Leu200Phe	Somatic		Capture	Illumina HiSeq	Phase_I	150880459	NM_004961	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	7.581	0.668693	0.14776	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79352	-1.26;-1.26	5.6	2.79	0.32731	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	1.185220	0.06372	N	0.713693	D	0.83367	0.5239	L	0.50333	1.59	0.80722	D	1	D	0.62365	0.991	P	0.62740	0.906	T	0.69289	-0.5184	10	0.54805	T	0.06	.	8.6069	0.33778	0.0843:0.3396:0.5761:0.0	.	200	P78334	GBRE_HUMAN	F	200	ENSP00000359353:L200F;ENSP00000359350:L200F	ENSP00000359350:L200F	L	-	1	0	GABRE	150880459	0.982000	0.34865	0.982000	0.44146	0.446000	0.32137	0.071000	0.14594	0.116000	0.18110	-1.028000	0.02416	CTC		0.517	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
PNMA5	114824	broad.mit.edu	37	X	152159025	152159025	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:152159025G>T	ENST00000439251.1	-	2	1556	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	PNMA5_ENST00000361887.5_Missense_Mutation_p.S373Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.S373Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.S373Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	373					positive regulation of apoptotic process (GO:0043065)			p.S373Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGCTAAAAGACCTTGCCTG	0.587																																					p.S373Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118A	X						.						88.0	77.0	81.0					X																	152159025		2203	4300	6503	151909681	SO:0001583	missense	114824	exon2			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1118C>A	X.37:g.152159025G>T	ENSP00000388850:p.Ser373Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	151909681	NM_001103150	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	0.830	-0.745473	0.03065	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	3.13	-1.17	0.09648	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40590	-0.9555	9	0.54805	T	0.06	-5.9776	2.5962	0.04855	0.2651:0.0:0.3254:0.4096	.	373	Q96PV4	PNMA5_HUMAN	Y	373	ENSP00000354834:S373Y;ENSP00000445775:S373Y;ENSP00000388850:S373Y;ENSP00000392342:S373Y	ENSP00000354834:S373Y	S	-	2	0	PNMA5	151909681	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.253000	0.02877	-0.406000	0.07588	0.287000	0.19450	TCT		0.587	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926	
DKC1	1736	broad.mit.edu	37	X	153996699	153996699	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:153996699A>G	ENST00000369550.5	+	8	973	c.763A>G	c.(763-765)Agt>Ggt	p.S255G	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	255					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.S255G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGTCATGAGTGAAAAGGT	0.493									Congenital Dyskeratosis																												p.S255G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A763G	X						.						264.0	222.0	236.0					X																	153996699		2203	4300	6503	153649893	SO:0001583	missense	1736	exon8	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.763A>G	X.37:g.153996699A>G	ENSP00000358563:p.Ser255Gly	Somatic		Capture	Illumina HiSeq	Phase_I	153649893	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101242	0.37048	.	.	ENSG00000130826	ENST00000369550	D	0.87809	-2.3	5.88	4.75	0.60458	Pseudouridine synthase, catalytic domain (1);	0.088845	0.85682	D	0.000000	T	0.74183	0.3683	L	0.31065	0.9	0.41965	D	0.990725	B;B	0.19706	0.017;0.038	B;B	0.14578	0.007;0.011	T	0.64922	-0.6293	10	0.13108	T	0.6	-15.4046	3.5144	0.07719	0.6691:0.0:0.3309:0.0	.	255;255	A8MUT5;O60832	.;DKC1_HUMAN	G	255	ENSP00000358563:S255G	ENSP00000358563:S255G	S	+	1	0	DKC1	153649893	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.395000	0.79876	1.979000	0.57680	0.486000	0.48141	AGT		0.493	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
DKC1	1736	broad.mit.edu	37	X	154004516	154004516	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:154004516T>C	ENST00000369550.5	+	14	1603	c.1393T>C	c.(1393-1395)Ttg>Ctg	p.L465L	SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	465	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.L465L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTCCTCAGTTGATCaagaa	0.498									Congenital Dyskeratosis																												p.L465L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1393C	X						.						64.0	57.0	60.0					X																	154004516		2203	4300	6503	153657710	SO:0001819	synonymous_variant	1736	exon14	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1393T>C	X.37:g.154004516T>C		Somatic		Capture	Illumina HiSeq	Phase_I	153657710	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	CCDS14761.1																																																																																				0.498	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
F8	2157	broad.mit.edu	37	X	154159275	154159275	+	Silent	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:154159275A>C	ENST00000360256.4	-	14	2990	c.2790T>G	c.(2788-2790)gtT>gtG	p.V930V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	930	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.V930V(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATCATAATGAACTGGCATAC	0.378																																					p.V930V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2790G	X						.						67.0	66.0	67.0					X																	154159275		2203	4299	6502	153812469	SO:0001819	synonymous_variant	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2790T>G	X.37:g.154159275A>C		Somatic		Capture	Illumina HiSeq	Phase_I	153812469	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154159882	154159882	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:154159882G>T	ENST00000360256.4	-	14	2383	c.2183C>A	c.(2182-2184)tCt>tAt	p.S728Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	728	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S728Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCACAACTAGAAACCTTCAG	0.428																																					p.S728Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2183A	X						.						97.0	86.0	90.0					X																	154159882		2202	4300	6502	153813076	SO:0001583	missense	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2183C>A	X.37:g.154159882G>T	ENSP00000353393:p.Ser728Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	153813076	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	4.209	0.037500	0.08148	.	.	ENSG00000185010	ENST00000360256	D	0.98044	-4.68	5.37	2.52	0.30459	Cupredoxin (2);	0.835296	0.11401	N	0.567874	D	0.92277	0.7550	N	0.20483	0.58	0.09310	N	1	B	0.34372	0.451	B	0.28139	0.086	D	0.85012	0.0906	10	0.28530	T	0.3	-0.1859	6.2852	0.21029	0.0902:0.0:0.5649:0.3449	.	728	P00451	FA8_HUMAN	Y	728	ENSP00000353393:S728Y	ENSP00000353393:S728Y	S	-	2	0	F8	153813076	0.941000	0.31946	0.071000	0.20095	0.972000	0.66771	1.835000	0.39181	0.088000	0.17205	0.422000	0.28245	TCT		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
ARSE	415	broad.mit.edu	37	X	2861135	2861135	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:2861135T>C	ENST00000381134.3	-	8	1163	c.1097A>G	c.(1096-1098)cAg>cGg	p.Q366R	ARSE_ENST00000545496.1_Missense_Mutation_p.Q391R|ARSE_ENST00000540563.1_Missense_Mutation_p.Q321R	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	366					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.Q366R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCACCATACTGGGTGTTTCC	0.463																																					p.Q366R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1097G	X						.						103.0	98.0	100.0					X																	2861135		2203	4300	6503	2871135	SO:0001583	missense	415	exon8			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1097A>G	X.37:g.2861135T>C	ENSP00000370526:p.Gln366Arg	Somatic		Capture	Illumina HiSeq	Phase_I	2871135	NM_000047	Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	T	8.704	0.910528	0.17833	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93547	-3.24;-3.24;-3.24	3.66	2.48	0.30137	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.139368	0.48767	D	0.000168	D	0.90027	0.6886	L	0.58969	1.84	0.20821	N	0.999846	B;B;B	0.18461	0.022;0.01;0.028	B;B;B	0.27796	0.049;0.083;0.082	T	0.79526	-0.1767	10	0.33940	T	0.23	.	7.5264	0.27658	0.0:0.111:0.0:0.889	.	321;391;366	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	R	321;391;366	ENSP00000438198:Q321R;ENSP00000441417:Q391R;ENSP00000370526:Q366R	ENSP00000370526:Q366R	Q	-	2	0	ARSE	2871135	1.000000	0.71417	0.002000	0.10522	0.007000	0.05969	4.157000	0.58144	0.326000	0.23384	0.486000	0.48141	CAG		0.463	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047	
MXRA5	25878	broad.mit.edu	37	X	3229335	3229335	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:3229335G>T	ENST00000217939.6	-	7	7063	c.6909C>A	c.(6907-6909)gtC>gtA	p.V2303V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2303	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)		p.V2303V(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTGTTGAAGACGACATAGC	0.542																																					p.V2303V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6909A	X						.						162.0	124.0	137.0					X																	3229335		2203	4300	6503	3239335	SO:0001819	synonymous_variant	25878	exon7			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6909C>A	X.37:g.3229335G>T		Somatic		Capture	Illumina HiSeq	Phase_I	3239335	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.542	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
FAM9B	171483	broad.mit.edu	37	X	9000469	9000469	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:9000469C>A	ENST00000327220.5	-	3	426	c.62G>T	c.(61-63)aGa>aTa	p.R21I	FAM9B_ENST00000428477.1_Missense_Mutation_p.R21I|FAM9B_ENST00000362066.3_Missense_Mutation_p.R66I			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	21						nucleus (GO:0005634)		p.R21I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				AAAACGGTTTCTTTCCTCACA	0.403																																					p.R21I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62T	X						.						230.0	190.0	203.0					X																	9000469		2203	4300	6503	8960469	SO:0001583	missense	171483	exon2				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.62G>T	X.37:g.9000469C>A	ENSP00000318716:p.Arg21Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8960469	NM_205849	Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927789	0.92389	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	T	0.35913	0.0948	L	0.32530	0.975	0.09310	N	0.999998	D;D	0.55605	0.972;0.972	P;P	0.55011	0.766;0.766	T	0.18808	-1.0325	7	0.41790	T	0.15	.	.	.	.	.	21;66	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	I	66;21;21	.	ENSP00000318716:R21I	R	-	2	0	FAM9B	8960469	0.005000	0.15991	0.209000	0.23619	0.208000	0.24298	-0.178000	0.09782	0.288000	0.22398	0.292000	0.19580	AGA		0.403	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849	
ACE2	59272	broad.mit.edu	37	X	15599404	15599404	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:15599404C>T	ENST00000252519.3	-	8	1112	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	ACE2_ENST00000427411.1_Missense_Mutation_p.G337E			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	337					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G337E(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CTGAACATTTCCTGGGTCCGT	0.473																																					p.G337E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010A	X						.						144.0	125.0	132.0					X																	15599404		2203	4300	6503	15509325	SO:0001583	missense	59272	exon9			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1010G>A	X.37:g.15599404C>T	ENSP00000252519:p.Gly337Glu	Somatic		Capture	Illumina HiSeq	Phase_I	15509325	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.500066	0.01001	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.37235	1.21;1.21	5.34	-3.41	0.04839	.	2.127130	0.01541	N	0.019221	T	0.30634	0.0771	L	0.49640	1.575	0.09310	N	1	B	0.18310	0.027	B	0.16289	0.015	T	0.13202	-1.0518	10	0.18276	T	0.48	0.1993	8.0407	0.30519	0.0:0.1633:0.3151:0.5216	.	337	Q9BYF1	ACE2_HUMAN	E	337	ENSP00000252519:G337E;ENSP00000389326:G337E	ENSP00000252519:G337E	G	-	2	0	ACE2	15509325	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.245000	0.08890	-0.675000	0.05246	-0.351000	0.07748	GGA		0.473	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
TXLNG	55787	broad.mit.edu	37	X	16857990	16857990	+	Missense_Mutation	SNP	G	G	A	rs182737478		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:16857990G>A	ENST00000380122.5	+	9	1260	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H	TXLNG_ENST00000485153.1_3'UTR|TXLNG_ENST00000398155.4_Missense_Mutation_p.R268H	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	400					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.R400H(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ATAATTTGGCGTACCAAATGG	0.368													G|||	3	0.000794702	0.0	0.0	3775	,	,		14993	0.003		0.0	False		,,,				2504	0.0				p.R400H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	X						.						112.0	103.0	106.0					X																	16857990		2203	4300	6503	16767911	SO:0001583	missense	55787	exon9			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1199G>A	X.37:g.16857990G>A	ENSP00000369465:p.Arg400His	Somatic		Capture	Illumina HiSeq	Phase_I	16767911	NM_018360	Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	CCDS14178.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.473826	0.96291	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.33654	1.4;1.4	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.74348	0.983;0.782	T	0.66488	-0.5911	10	0.62326	D	0.03	-0.1479	18.8131	0.92065	0.0:0.0:1.0:0.0	.	268;400	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	H	400;268	ENSP00000369465:R400H;ENSP00000381222:R268H	ENSP00000369465:R400H	R	+	2	0	TXLNG	16767911	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.781000	0.99029	2.390000	0.81377	0.538000	0.68166	CGT		0.368	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360	
PPEF1	5475	broad.mit.edu	37	X	18822154	18822154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:18822154G>T	ENST00000361511.4	+	14	1704	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	PPEF1_ENST00000359763.6_Nonsense_Mutation_p.E351*|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.E339*|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	404	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.E404*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAGGTCTCATGAATGTAAGCC	0.418																																					p.E404X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1210T	X						.						113.0	103.0	106.0					X																	18822154		2203	4300	6503	18732075	SO:0001587	stop_gained	5475	exon14			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1210G>T	X.37:g.18822154G>T	ENSP00000354871:p.Glu404*	Somatic		Capture	Illumina HiSeq	Phase_I	18732075	NM_006240	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Nonsense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.693558	0.98438	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.5868	18.2534	0.90011	0.0:0.0:1.0:0.0	.	.	.	.	X	404;351;339	.	ENSP00000352806:E351X	E	+	1	0	PPEF1	18732075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.248000	0.74166	0.594000	0.82650	GAA		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
SH3KBP1	30011	broad.mit.edu	37	X	19554564	19554564	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:19554564C>T	ENST00000397821.3	-	18	2259	c.1969G>A	c.(1969-1971)Gac>Aac	p.D657N	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.D419N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D620N|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.D396N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	657					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D657N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTCTTTATGTCGTTCACTTCC	0.363																																					p.D620N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1858A	X						.						78.0	70.0	72.0					X																	19554564		2197	4300	6497	19464485	SO:0001583	missense	30011	exon17			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1969G>A	X.37:g.19554564C>T	ENSP00000380921:p.Asp657Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19464485	NM_001024666	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240410	0.39598	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.06	5.06	0.68205	.	0.080623	0.51477	D	0.000096	T	0.25344	0.0616	N	0.22421	0.69	0.36770	D	0.883755	P;B;P	0.42161	0.483;0.305;0.772	B;B;B	0.32583	0.098;0.09;0.148	T	0.34428	-0.9829	10	0.62326	D	0.03	-7.4239	17.6286	0.88100	0.0:1.0:0.0:0.0	.	419;657;620	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	N	642;657;419;620;396;637	ENSP00000380921:D657N;ENSP00000369039:D419N;ENSP00000369020:D620N;ENSP00000442499:D396N;ENSP00000369049:D637N	ENSP00000369020:D620N	D	-	1	0	SH3KBP1	19464485	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	3.536000	0.53582	2.092000	0.63282	0.468000	0.43344	GAC		0.363	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
MAP7D2	256714	broad.mit.edu	37	X	20034397	20034397	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:20034397G>A	ENST00000379651.3	-	10	1354	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R394C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R487C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R331C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R401C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	446					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R446C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcttctaggcgaagcctttcc	0.468																																					p.R487C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1459T	X						.						68.0	63.0	65.0					X																	20034397		2203	4300	6503	19944318	SO:0001583	missense	256714	exon11			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1336C>T	X.37:g.20034397G>A	ENSP00000368972:p.Arg446Cys	Somatic		Capture	Illumina HiSeq	Phase_I	19944318	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716266	0.30413	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.19	3.37	0.38596	.	0.685242	0.14464	N	0.318001	T	0.35799	0.0944	M	0.86502	2.82	0.21652	N	0.99961	B;B;B;B;B	0.24675	0.109;0.012;0.089;0.109;0.022	B;B;B;B;B	0.16289	0.015;0.006;0.009;0.015;0.005	T	0.42632	-0.9440	10	0.87932	D	0	1.1329	5.5388	0.17026	0.1026:0.0:0.7017:0.1957	.	401;394;487;446;331	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	C	446;487;331;401;129;394	ENSP00000368972:R446C;ENSP00000368964:R487C;ENSP00000440691:R331C;ENSP00000388239:R401C;ENSP00000413301:R394C	ENSP00000368964:R487C	R	-	1	0	MAP7D2	19944318	0.977000	0.34250	0.027000	0.17364	0.733000	0.41908	2.150000	0.42254	0.646000	0.30693	0.540000	0.68198	CGC		0.468	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
MBTPS2	51360	broad.mit.edu	37	X	21900627	21900627	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:21900627C>T	ENST00000379484.5	+	11	1513	c.1414C>T	c.(1414-1416)Cta>Tta	p.L472L		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	472					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L472L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ACAATGGATTCTAAACTCTTT	0.428																																					p.L472L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1414T	X						.						242.0	218.0	226.0					X																	21900627		2203	4300	6503	21810548	SO:0001819	synonymous_variant	51360	exon11			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1414C>T	X.37:g.21900627C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21810548	NM_015884	Q9UM70|Q9UMD3	Silent	SNP	ENST00000379484.5	37	CCDS14201.1																																																																																				0.428	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1		
ZNF645	158506	broad.mit.edu	37	X	22291390	22291390	+	Silent	SNP	G	G	A	rs148712606		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:22291390G>A	ENST00000323684.1	+	1	326	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	94					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P94P(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAGTATGTCCGCGCTGTCGTT	0.403																																					p.P94P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G282A	X						.	A		0,3835		0,0,1632,571	76.0	65.0	69.0		282	0.9	0.0	X	dbSNP_134	69	2,6726		0,2,2426,1872	no	coding-synonymous	ZNF645	NM_152577.3		0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189		94/426	22291390	2,10561	2203	4300	6503	22201311	SO:0001819	synonymous_variant	158506	exon1			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.282G>A	X.37:g.22291390G>A		Somatic		Capture	Illumina HiSeq	Phase_I	22201311	NM_152577	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	CCDS14205.1																																																																																				0.403	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577	
DCAF8L1	139425	broad.mit.edu	37	X	27997865	27997865	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:27997865C>T	ENST00000441525.1	-	1	1701	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	529								p.K529K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCGCTCCTGCTTGTTCTTCT	0.493																																					p.K529K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1587A	X						.						162.0	122.0	136.0					X																	27997865		2202	4300	6502	27907786	SO:0001819	synonymous_variant	139425	exon1				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1587G>A	X.37:g.27997865C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27907786	NM_001017930	B3KXX1	Silent	SNP	ENST00000441525.1	37	CCDS35222.1																																																																																				0.493	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
IL1RAPL1	11141	broad.mit.edu	37	X	29973687	29973687	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:29973687C>T	ENST00000378993.1	+	11	2514	c.1841C>T	c.(1840-1842)aCg>aTg	p.T614M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T614M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	614	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.T614M(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTCACAACACGTACCATTCA	0.542																																					p.T614M												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C1841T	X						.						86.0	41.0	56.0					X																	29973687		2202	4299	6501	29883608	SO:0001583	missense	11141	exon11			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1841C>T	X.37:g.29973687C>T	ENSP00000368278:p.Thr614Met	Somatic		Capture	Illumina HiSeq	Phase_I	29883608	NM_014271	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984247	0.53827	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03951	3.75;3.75	5.12	5.12	0.69794	.	0.204977	0.51477	D	0.000088	T	0.11024	0.0269	L	0.43152	1.355	0.43073	D	0.994713	D	0.76494	0.999	P	0.53146	0.719	T	0.11916	-1.0568	9	.	.	.	.	17.7418	0.88409	0.0:1.0:0.0:0.0	.	614	Q9NZN1	IRPL1_HUMAN	M	614	ENSP00000368278:T614M;ENSP00000305200:T614M	.	T	+	2	0	IL1RAPL1	29883608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.524000	0.60552	2.121000	0.65114	0.529000	0.55759	ACG		0.542	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
GK	2710	broad.mit.edu	37	X	30712588	30712588	+	Silent	SNP	A	A	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:30712588A>G	ENST00000378943.3	+	6	665	c.486A>G	c.(484-486)agA>agG	p.R162R	GK_ENST00000378945.3_Silent_p.R162R|GK_ENST00000378946.3_Silent_p.R162R|GK_ENST00000427190.1_5'UTR	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	162					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.R162R(1)		central_nervous_system(1)|large_intestine(3)	4						ACAATGTGAGAAAAGTTCAAA	0.378																																					p.R162R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A486G	X						.						64.0	60.0	61.0					X																	30712588		2202	4298	6500	30622509	SO:0001819	synonymous_variant	2710	exon6			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.486A>G	X.37:g.30712588A>G		Somatic		Capture	Illumina HiSeq	Phase_I	30622509	NM_001128127	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378943.3	37	CCDS48090.1																																																																																				0.378	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	
DMD	1756	broad.mit.edu	37	X	32398654	32398654	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:32398654A>C	ENST00000357033.4	-	34	5024	c.4818T>G	c.(4816-4818)aaT>aaG	p.N1606K	DMD_ENST00000378677.2_Missense_Mutation_p.N1602K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1606	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.N1601K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGAATCCAAATTACTAGGCA	0.378																																					p.N265K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T795G	X						.						145.0	129.0	135.0					X																	32398654		2202	4300	6502	32308575	SO:0001583	missense	1756	exon6			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4818T>G	X.37:g.32398654A>C	ENSP00000354923:p.Asn1606Lys	Somatic		Capture	Illumina HiSeq	Phase_I	32308575	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	a	17.70	3.453820	0.63290	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49139	0.79;0.79	5.21	2.85	0.33270	.	0.000000	0.35585	U	0.003119	T	0.54046	0.1834	L	0.51422	1.61	0.80722	D	1	P;D;P;P;P	0.67145	0.557;0.996;0.611;0.611;0.611	B;D;B;B;B	0.64042	0.234;0.921;0.346;0.346;0.346	T	0.49103	-0.8974	10	0.40728	T	0.16	.	7.1229	0.25454	0.746:0.0:0.254:0.0	.	1598;1606;1602;265;262	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1598;265;262;1602;1606;1606;1483	ENSP00000367948:N1602K;ENSP00000354923:N1606K	ENSP00000354923:N1606K	N	-	3	2	DMD	32308575	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.825000	0.39081	0.643000	0.30638	0.433000	0.28618	AAT		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
CHDC2	286464	broad.mit.edu	37	X	36090062	36090062	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:36090062A>C	ENST00000313548.4	+	3	350	c.164A>C	c.(163-165)gAa>gCa	p.E55A		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	55						integral component of membrane (GO:0016021)		p.E55A(1)									AATGATGCTGAACCTGCAAAG	0.363																																					p.E55A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164C	X						.						69.0	60.0	63.0					X																	36090062		2202	4300	6502	35999983	SO:0001583	missense	286464	exon3			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.164A>C	X.37:g.36090062A>C	ENSP00000324767:p.Glu55Ala	Somatic		Capture	Illumina HiSeq	Phase_I	35999983	NM_173695		Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	A	9.719	1.159214	0.21454	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	3.79	1.31	0.21738	.	0.972570	0.08357	N	0.958250	T	0.19327	0.0464	N	0.14661	0.345	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.25710	-1.0124	9	0.51188	T	0.08	-0.6322	2.6792	0.05089	0.6456:0.0:0.127:0.2273	.	55	Q8N9S7	CX059_HUMAN	A	55	.	ENSP00000324767:E55A	E	+	2	0	CXorf59	35999983	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.600000	0.24104	0.147000	0.19030	-0.396000	0.06452	GAA		0.363	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
CYBB	1536	broad.mit.edu	37	X	37655332	37655332	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:37655332C>A	ENST00000378588.4	+	6	679	c.612C>A	c.(610-612)gtC>gtA	p.V204V	CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Silent_p.V172V	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	204	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.V204V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ACTTTGAAGTCTTTTGGTACA	0.443																																					p.V204V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612A	X						.						244.0	179.0	201.0					X																	37655332		2202	4300	6502	37540272	SO:0001819	synonymous_variant	1536	exon6			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.612C>A	X.37:g.37655332C>A		Somatic		Capture	Illumina HiSeq	Phase_I	37540272	NM_000397	A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	CCDS14242.1																																																																																				0.443	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
SYTL5	94122	broad.mit.edu	37	X	37893202	37893202	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:37893202G>T	ENST00000357972.5	+	2	606	c.60G>T	c.(58-60)atG>atT	p.M20I	SYTL5_ENST00000456733.2_Missense_Mutation_p.M20I|SYTL5_ENST00000297875.2_Missense_Mutation_p.M20I|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	20	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.M20I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AGAAGGAAATGATCCTGGGCG	0.368																																					p.M20I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G60T	X						.						77.0	69.0	72.0					X																	37893202		2202	4300	6502	37778146	SO:0001583	missense	94122	exon2				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.60G>T	X.37:g.37893202G>T	ENSP00000350657:p.Met20Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37778146	NM_138780	A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515407	0.44763	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.74842	-0.88;-0.88;-0.88	5.97	5.1	0.69264	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.225081	0.51477	D	0.000092	T	0.57080	0.2029	L	0.31926	0.97	0.26519	N	0.974467	P;B	0.41041	0.736;0.129	B;B	0.33196	0.159;0.045	T	0.49194	-0.8965	10	0.17369	T	0.5	-10.4006	10.1096	0.42555	0.0:0.1446:0.7022:0.1532	.	20;20	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	I	20	ENSP00000297875:M20I;ENSP00000350657:M20I;ENSP00000395220:M20I	ENSP00000297875:M20I	M	+	3	0	SYTL5	37778146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.259000	0.43259	1.252000	0.44001	0.600000	0.82982	ATG		0.368	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
RPGR	6103	broad.mit.edu	37	X	38178171	38178171	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:38178171C>A	ENST00000339363.3	-	5	547	c.380G>T	c.(379-381)aGa>aTa	p.R127I	RPGR_ENST00000318842.7_Missense_Mutation_p.R127I|RPGR_ENST00000309513.3_Missense_Mutation_p.R127I|RPGR_ENST00000338898.3_Missense_Mutation_p.R127I|RPGR_ENST00000378505.2_Missense_Mutation_p.R127I|RPGR_ENST00000342811.3_Missense_Mutation_p.R127I|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	127			R -> G (in RP3). {ECO:0000269|PubMed:10937588, ECO:0000269|PubMed:11992260}.		cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.R127I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AAAAGTGTTTCTTTCTTCGGT	0.413																																					p.R127I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380T	X						.						135.0	114.0	121.0					X																	38178171		2202	4300	6502	38063115	SO:0001583	missense	6103	exon5			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.380G>T	X.37:g.38178171C>A	ENSP00000343671:p.Arg127Ile	Somatic		Capture	Illumina HiSeq	Phase_I	38063115	NM_000328	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.196171	0.38806	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.08	5.08	0.68730	.	0.055607	0.64402	U	0.000001	D	0.90442	0.7007	M	0.67397	2.05	0.58432	D	0.999997	D;P	0.63046	0.992;0.705	P;B	0.61275	0.886;0.402	D	0.90182	0.4243	10	0.41790	T	0.15	.	17.5957	0.88011	0.0:1.0:0.0:0.0	.	127;127	E9PE28;Q92834-2	.;.	I	127	ENSP00000343671:R127I;ENSP00000308783:R127I;ENSP00000340208:R127I;ENSP00000322219:R127I;ENSP00000339531:R127I;ENSP00000367766:R127I	ENSP00000308783:R127I	R	-	2	0	RPGR	38063115	1.000000	0.71417	0.031000	0.17742	0.004000	0.04260	2.437000	0.44828	2.082000	0.62665	0.594000	0.82650	AGA		0.413	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328	
OTC	5009	broad.mit.edu	37	X	38240639	38240639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:38240639G>A	ENST00000039007.4	+	4	495	c.343G>A	c.(343-345)Gat>Aat	p.D115N	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	115					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.D115N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TACCACACAAGATATTCATTT	0.348																																					p.D115N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	X						.						82.0	77.0	79.0					X																	38240639		2202	4300	6502	38125583	SO:0001583	missense	5009	exon4			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.343G>A	X.37:g.38240639G>A	ENSP00000039007:p.Asp115Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38125583	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927156	0.92389	.	.	ENSG00000036473	ENST00000039007	D	0.98437	-4.93	5.8	5.8	0.92144	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99880	1.1111	10	0.72032	D	0.01	20.744	17.6825	0.88248	0.0:0.0:1.0:0.0	.	115	P00480	OTC_HUMAN	N	115	ENSP00000039007:D115N	ENSP00000039007:D115N	D	+	1	0	OTC	38125583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.848000	0.75409	2.448000	0.82819	0.600000	0.82982	GAT		0.348	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
EFHC2	80258	broad.mit.edu	37	X	44101534	44101534	+	Splice_Site	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:44101534C>A	ENST00000420999.1	-	8	1196	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	371							calcium ion binding (GO:0005509)	p.E371D(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AGGTAAAGTTCTCTAGAACAA	0.368																																					p.E371D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1113T	X						.						47.0	40.0	43.0					X																	44101534		1837	4087	5924	43986478	SO:0001630	splice_region_variant	80258	exon8			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1112-1G>T	X.37:g.44101534C>A		Somatic		Capture	Illumina HiSeq	Phase_I	43986478	NM_025184	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.433|9.433	1.085999|1.085999	0.20390|0.20390	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.68903|.	-0.35;-0.36|.	5.9|5.9	3.05|3.05	0.35203|0.35203	.|.	0.216085|0.216085	0.47455|0.47455	N|D	0.000235|0.000235	T|.	0.39253|.	0.1071|.	N|N	0.25485|0.25485	0.75|0.75	0.43426|0.43426	D|D	0.995588|0.995588	B|.	0.09022|.	0.002|.	B|.	0.11329|.	0.006|.	T|.	0.07462|.	-1.0771|.	10|.	0.16896|0.21014	T|T	0.51|0.42	.|.	6.8644|6.8644	0.24084|0.24084	0.1344:0.6735:0.1216:0.0706|0.1344:0.6735:0.1216:0.0706	.|.	371|.	Q5JST6|.	EFHC2_HUMAN|.	D|X	371;399;175|352	ENSP00000333823:E371D;ENSP00000404232:E399D|.	ENSP00000333823:E371D|ENSP00000397513:E352X	E|E	-|-	3|1	2|0	EFHC2|EFHC2	43986478|43986478	1.000000|1.000000	0.71417|0.71417	0.509000|0.509000	0.27700|0.27700	0.958000|0.958000	0.62258|0.62258	2.678000|2.678000	0.46900|0.46900	0.195000|0.195000	0.20347|0.20347	0.600000|0.600000	0.82982|0.82982	GAG|GAA		0.368	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184	Missense_Mutation
ZNF182	7569	broad.mit.edu	37	X	47835880	47835880	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:47835880G>T	ENST00000396965.1	-	7	1956	c.1606C>A	c.(1606-1608)Cat>Aat	p.H536N	ZNF182_ENST00000376943.3_Missense_Mutation_p.H517N|ZNF182_ENST00000305127.6_Missense_Mutation_p.H536N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H536N(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCTCCTGTATGAATTCTCTGA	0.383																																					p.H536N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1606A	X						.						81.0	74.0	76.0					X																	47835880		2203	4300	6503	47720824	SO:0001583	missense	7569	exon7			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1606C>A	X.37:g.47835880G>T	ENSP00000380165:p.His536Asn	Somatic		Capture	Illumina HiSeq	Phase_I	47720824	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184251	0.57800	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.67345	-0.26;-0.26;-0.26	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85643	0.5744	M	0.93150	3.385	0.40964	D	0.984644	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.991	D	0.89760	0.3946	9	0.87932	D	0	.	14.3022	0.66359	0.0:0.0:1.0:0.0	.	516;517;536	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	N	517;536;536	ENSP00000366142:H517N;ENSP00000380165:H536N;ENSP00000306351:H536N	ENSP00000306351:H536N	H	-	1	0	ZNF182	47720824	1.000000	0.71417	0.554000	0.28268	0.795000	0.44927	9.330000	0.96422	2.343000	0.79666	0.544000	0.68410	CAT		0.383	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
TBC1D25	4943	broad.mit.edu	37	X	48399814	48399814	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:48399814G>A	ENST00000376771.4	+	2	558	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000476141.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	73					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.A73T(2)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CCTCATCCGAGCCTTTGATTT	0.547																																					p.A73T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G217A	X						.						152.0	130.0	137.0					X																	48399814		2203	4300	6503	48284758	SO:0001583	missense	4943	exon2			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.217G>A	X.37:g.48399814G>A	ENSP00000365962:p.Ala73Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48284758	NM_002536	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	g	31	5.065853	0.93898	.	.	ENSG00000068354	ENST00000376771;ENST00000427713;ENST00000418627	T	0.29917	1.55	4.94	4.94	0.65067	.	0.141256	0.46442	D	0.000299	T	0.55289	0.1911	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.60850	-0.7181	10	0.87932	D	0	-6.1784	12.6409	0.56709	0.0:0.0:1.0:0.0	.	77;73	B4DF03;Q3MII6	.;TBC25_HUMAN	T	73;73;89	ENSP00000365962:A73T	ENSP00000365962:A73T	A	+	1	0	TBC1D25	48284758	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.365000	0.90108	2.035000	0.60131	0.452000	0.29995	GCC		0.547	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536	
PQBP1	10084	broad.mit.edu	37	X	48759297	48759297	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:48759297G>T	ENST00000376563.1	+	4	470	c.270G>T	c.(268-270)aaG>aaT	p.K90N	PQBP1_ENST00000396763.1_Missense_Mutation_p.K90N|PQBP1_ENST00000247140.4_Missense_Mutation_p.K90N|PQBP1_ENST00000447146.2_Missense_Mutation_p.K90N|PQBP1_ENST00000218224.4_Missense_Mutation_p.K90N|PQBP1_ENST00000376566.4_Missense_Mutation_p.K90N|PQBP1_ENST00000473764.1_3'UTR	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	90					alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)	p.K90N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						AATCGGCCAAGAAGCTCAGAA	0.537																																					p.K90N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	X						.						109.0	84.0	93.0					X																	48759297		2203	4300	6503	48644241	SO:0001583	missense	10084	exon3			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.270G>T	X.37:g.48759297G>T	ENSP00000365747:p.Lys90Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48644241	NM_005710	Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	ENST00000376563.1	37	CCDS14309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.88|16.88	3.244834|3.244834	0.59103|0.59103	.|.	.|.	ENSG00000102103|ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648|ENST00000456306	T;T;T;T;T;T;T|.	0.78364|.	-1.13;-1.17;-1.13;-1.17;-1.13;-1.13;-1.14|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68174|0.68174	0.2972|0.2972	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D;B;D;D|.	0.76494|.	0.999;0.999;0.714;0.999;0.435;0.999;0.998|.	D;D;B;D;B;D;D|.	0.80764|.	0.963;0.961;0.267;0.994;0.037;0.96;0.987|.	T|T	0.65405|0.65405	-0.6176|-0.6176	10|5	0.20046|.	T|.	0.44|.	-32.4621|-32.4621	15.6755|15.6755	0.77316|0.77316	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	90;90;90;90;90;90;90|.	O60828-6;O60828-2;C9JQA1;O60828-7;O60828-4;O60828-3;O60828|.	.;.;.;.;.;.;PQBP1_HUMAN|.	N|I	90|79	ENSP00000365747:K90N;ENSP00000365750:K90N;ENSP00000391759:K90N;ENSP00000247140:K90N;ENSP00000218224:K90N;ENSP00000379985:K90N;ENSP00000414861:K90N|.	ENSP00000218224:K90N|.	K|R	+|+	3|2	2|0	PQBP1|PQBP1	48644241|48644241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.620000|4.620000	0.61226|0.61226	2.413000|2.413000	0.81919|0.81919	0.600000|0.600000	0.82982|0.82982	AAG|AGA		0.537	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1	
KCND1	3750	broad.mit.edu	37	X	48826248	48826248	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:48826248G>A	ENST00000218176.3	-	1	1728	c.431C>T	c.(430-432)gCc>gTc	p.A144V	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	144					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.A144V(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CAGGCGCTCGGCATTCTCCTT	0.657																																					p.A144V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C431T	X						.						23.0	19.0	21.0					X																	48826248		2203	4300	6503	48711192	SO:0001583	missense	3750	exon1			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.431C>T	X.37:g.48826248G>A	ENSP00000218176:p.Ala144Val	Somatic		Capture	Illumina HiSeq	Phase_I	48711192	NM_004979	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892951	0.33442	.	.	ENSG00000102057	ENST00000218176	T	0.44083	0.93	4.8	4.8	0.61643	BTB/POZ fold (2);	0.227324	0.38217	N	0.001771	T	0.33673	0.0871	L	0.49350	1.555	0.36886	D	0.889631	B	0.19331	0.035	B	0.14578	0.011	T	0.27739	-1.0065	10	0.20046	T	0.44	.	9.5038	0.39033	0.1002:0.0:0.8998:0.0	.	144	Q9NSA2	KCND1_HUMAN	V	144	ENSP00000218176:A144V	ENSP00000218176:A144V	A	-	2	0	KCND1	48711192	0.928000	0.31464	0.953000	0.39169	0.892000	0.51952	3.343000	0.52167	2.222000	0.72286	0.513000	0.50165	GCC		0.657	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
SYP	6855	broad.mit.edu	37	X	49054200	49054200	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:49054200G>A	ENST00000263233.4	-	3	273	c.201C>T	c.(199-201)atC>atT	p.I67I	SYP_ENST00000538567.1_Intron|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000479808.1_Silent_p.I67I	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	67	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)	p.I67I(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACTCGACCTCGATGCTGAGGT	0.607																																					p.I67I												.	.	4	Substitution - coding silent(4)	large_intestine(2)|pancreas(2)	c.C201T	X						.						80.0	44.0	56.0					X																	49054200		2203	4300	6503	48941144	SO:0001819	synonymous_variant	6855	exon3			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.201C>T	X.37:g.49054200G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48941144	NM_003179	B2R7L6|B7Z359|Q6P2F7	Silent	SNP	ENST00000263233.4	37	CCDS14321.1																																																																																				0.607	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179	
CACNA1F	778	broad.mit.edu	37	X	49088171	49088171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:49088171G>A	ENST00000376265.2	-	2	305	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R82*|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	82					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R82*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGACCGTCGCAGAGGATTG	0.597																																					p.R82X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C244T	X	GRCh37	CM010174	CACNA1F	M		.						97.0	75.0	83.0					X																	49088171		2203	4300	6503	48975115	SO:0001587	stop_gained	778	exon2			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.244C>T	X.37:g.49088171G>A	ENSP00000365441:p.Arg82*	Somatic		Capture	Illumina HiSeq	Phase_I	48975115	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350852	0.95830	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	.	.	.	5.15	3.11	0.35812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6815	0.56924	0.0:0.0:0.658:0.342	.	.	.	.	X	82	.	.	R	-	1	2	CACNA1F	48975115	1.000000	0.71417	0.511000	0.27724	0.705000	0.40729	3.651000	0.54431	0.920000	0.36970	0.436000	0.28706	CGA		0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
GPR173	54328	broad.mit.edu	37	X	53106637	53106637	+	Silent	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:53106637C>A	ENST00000332582.4	+	2	1325	c.834C>A	c.(832-834)gtC>gtA	p.V278V		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	278					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.V278V(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						TGGACGAGGTCAAGGGTGAAA	0.622																																					p.V278V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C834A	X						.						97.0	63.0	74.0					X																	53106637		2203	4298	6501	53123362	SO:0001819	synonymous_variant	54328	exon2			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.834C>A	X.37:g.53106637C>A		Somatic		Capture	Illumina HiSeq	Phase_I	53123362	NM_018969	B1B0A5	Silent	SNP	ENST00000332582.4	37	CCDS14349.1																																																																																				0.622	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
KDM5C	8242	broad.mit.edu	37	X	53245277	53245277	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:53245277C>A	ENST00000375401.3	-	6	1292	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	KDM5C_ENST00000375379.3_Missense_Mutation_p.D254Y|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Missense_Mutation_p.D253Y|KDM5C_ENST00000452825.3_Missense_Mutation_p.D187Y|KDM5C_ENST00000375383.3_Missense_Mutation_p.D213Y	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	254					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)	p.D254Y(1)		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						AGAGTCTTGTCTTTGGCCATG	0.542			"""N, F, S"""		clear cell renal carcinoma																																p.D254Y			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760T	X						.						125.0	111.0	116.0					X																	53245277		2203	4300	6503	53262002	SO:0001583	missense	8242	exon6			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.760G>T	X.37:g.53245277C>A	ENSP00000364550:p.Asp254Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	53262002	NM_004187	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790259	0.31685	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87103	-2.21;-1.87;-1.87;-1.87;-2.05	5.25	5.25	0.73442	.	0.268675	0.39083	N	0.001464	D	0.85805	0.5782	M	0.71581	2.175	0.45139	D	0.998159	B;B;B	0.20671	0.044;0.005;0.047	B;B;B	0.27262	0.078;0.015;0.052	D	0.83890	0.0284	10	0.72032	D	0.01	-14.3639	8.9801	0.35959	0.0:0.8968:0.0:0.1032	.	187;253;254	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Y	187;254;253;254;213	ENSP00000445176:D187Y;ENSP00000364550:D254Y;ENSP00000385394:D253Y;ENSP00000364528:D254Y;ENSP00000364532:D213Y	ENSP00000364528:D254Y	D	-	1	0	KDM5C	53262002	0.999000	0.42202	1.000000	0.80357	0.846000	0.48090	3.148000	0.50647	2.182000	0.69389	0.529000	0.55759	GAC		0.542	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
SMC1A	8243	broad.mit.edu	37	X	53407071	53407071	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:53407071C>T	ENST00000322213.4	-	25	3782	c.3655G>A	c.(3655-3657)Gac>Aac	p.D1219N	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1219					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.D1219N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGGTGAGGTCGAAGGTCAGG	0.502																																					p.D1219N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3655A	X						.						164.0	151.0	155.0					X																	53407071		2203	4300	6503	53423796	SO:0001583	missense	8243	exon25			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3655G>A	X.37:g.53407071C>T	ENSP00000323421:p.Asp1219Asn	Somatic		Capture	Illumina HiSeq	Phase_I	53423796	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039791	0.93630	.	.	ENSG00000072501	ENST00000322213	T	0.81415	-1.49	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87882	0.2678	10	0.87932	D	0	.	16.9966	0.86369	0.0:1.0:0.0:0.0	.	1219	Q14683	SMC1A_HUMAN	N	1219	ENSP00000323421:D1219N	ENSP00000323421:D1219N	D	-	1	0	SMC1A	53423796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.363000	0.80096	0.600000	0.82982	GAC		0.502	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
USP51	158880	broad.mit.edu	37	X	55513875	55513875	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:55513875C>T	ENST00000500968.3	-	2	1580	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	500	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A500T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CTATGGCAGGCTTGACATGTG	0.507																																					p.A500T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1498A	X						.						115.0	85.0	95.0					X																	55513875		2203	4300	6503	55530600	SO:0001583	missense	158880	exon2			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1498G>A	X.37:g.55513875C>T	ENSP00000423333:p.Ala500Thr	Somatic		Capture	Illumina HiSeq	Phase_I	55530600	NM_201286	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	4.416	0.076882	0.08485	.	.	ENSG00000247746	ENST00000500968	T	0.29655	1.56	3.04	0.252	0.15545	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.277526	0.33753	N	0.004582	T	0.13457	0.0326	N	0.11313	0.125	0.24389	N	0.994759	B	0.19583	0.037	B	0.27608	0.081	T	0.30794	-0.9966	10	0.16420	T	0.52	.	6.8233	0.23868	0.0:0.6287:0.0:0.3713	.	500	Q70EK9	UBP51_HUMAN	T	500	ENSP00000423333:A500T	ENSP00000423333:A500T	A	-	1	0	USP51	55530600	1.000000	0.71417	0.858000	0.33744	0.921000	0.55340	2.412000	0.44609	-0.063000	0.13065	-0.312000	0.09012	GCC		0.507	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
USP51	158880	broad.mit.edu	37	X	55514578	55514578	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:55514578T>C	ENST00000500968.3	-	2	877	c.795A>G	c.(793-795)aaA>aaG	p.K265K	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	265					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K265K(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTTCTGCATGTTTGTGAATAT	0.393																																					p.K265K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A795G	X						.						134.0	119.0	124.0					X																	55514578		2203	4300	6503	55531303	SO:0001819	synonymous_variant	158880	exon2			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.795A>G	X.37:g.55514578T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55531303	NM_201286	Q8IWJ8	Silent	SNP	ENST00000500968.3	37	CCDS14370.1																																																																																				0.393	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
AMER1	139285	broad.mit.edu	37	X	63410597	63410597	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:63410597C>T	ENST00000330258.3	-	2	2842	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	857					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.R857Q(1)									TTGGTAGAATCGACTATGGTA	0.547																																					p.R857Q												.	.	68	Whole gene deletion(67)|Substitution - Missense(1)	kidney(65)|large_intestine(2)|ovary(1)	c.G2570A	X						.						41.0	43.0	42.0					X																	63410597		2114	4215	6329	63327322	SO:0001583	missense	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2570G>A	X.37:g.63410597C>T	ENSP00000329117:p.Arg857Gln	Somatic		Capture	Illumina HiSeq	Phase_I	63327322	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248838	0.22880	.	.	ENSG00000184675	ENST00000330258	T	0.51574	0.7	4.79	3.92	0.45320	.	.	.	.	.	T	0.21227	0.0511	N	0.08118	0	0.80722	D	1	B	0.29037	0.231	B	0.14023	0.01	T	0.05683	-1.0870	8	.	.	.	-5.5696	6.5324	0.22334	0.1787:0.7254:0.0:0.096	.	857	Q5JTC6	F123B_HUMAN	Q	857	ENSP00000329117:R857Q	.	R	-	2	0	FAM123B	63327322	1.000000	0.71417	0.879000	0.34478	0.433000	0.31745	1.797000	0.38804	1.151000	0.42436	0.529000	0.55759	CGA		0.547	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
AR	367	broad.mit.edu	37	X	66765853	66765853	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:66765853G>A	ENST00000374690.3	+	1	1389	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	AR_ENST00000396044.3_Missense_Mutation_p.E289K|AR_ENST00000504326.1_Missense_Mutation_p.E289K|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	287	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E289K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CCCATTGGCCGAATGCAAAGG	0.562									Androgen Insensitivity Syndrome				g|||	1	0.000264901	0.0008	0.0	3775	,	,		14585	0.0		0.0	False		,,,				2504	0.0				p.E289K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	X	GRCh37	CM035613	AR	M		.						80.0	66.0	71.0					X																	66765853		2203	4300	6503	66682578	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.865G>A	X.37:g.66765853G>A	ENSP00000363822:p.Glu289Lys	Somatic		Capture	Illumina HiSeq	Phase_I	66682578	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	17.48	3.399654	0.62177	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.88	4.88	0.63580	.	0.457119	0.21281	N	0.077160	D	0.97911	0.9313	M	0.91354	3.2	0.32021	N	0.600731	D;D;D	0.76494	0.995;0.975;0.999	P;P;D	0.78314	0.908;0.806;0.991	D	0.98047	1.0385	10	0.72032	D	0.01	.	12.1635	0.54117	0.0:0.0:1.0:0.0	.	289;289;287	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	K	99;289;289;289;281	ENSP00000363822:E289K;ENSP00000421155:E289K;ENSP00000379359:E289K	ENSP00000363822:E289K	E	+	1	0	AR	66682578	1.000000	0.71417	0.878000	0.34440	0.646000	0.38490	4.385000	0.59613	2.260000	0.74910	0.509000	0.49947	GAA		0.562	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
EDA	1896	broad.mit.edu	37	X	69253250	69253250	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:69253250C>A	ENST00000374552.4	+	7	1038	c.796C>A	c.(796-798)Ctt>Att	p.L266I	EDA_ENST00000374553.2_Missense_Mutation_p.L266I|EDA_ENST00000524573.1_Intron	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	266			L -> R (in XHED). {ECO:0000269|PubMed:20979233}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L266I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ATACTGAGATCTTTCAGGTGG	0.507											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L266I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C796A	X						.						166.0	152.0	156.0					X																	69253250		2203	4300	6503	69169975	SO:0001583	missense	1896	exon7			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.796C>A	X.37:g.69253250C>A	ENSP00000363680:p.Leu266Ile	Somatic	1113	Capture	Illumina HiSeq	Phase_I	69169975	NM_001005609	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374964	0.82573	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000503592	D;D;D	0.99470	-5.96;-5.96;-3.24	5.48	5.48	0.80851	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.000000	0.64402	D	0.000001	D	0.99381	0.9782	M	0.61703	1.905	0.80722	D	1	P;P	0.52577	0.923;0.954	D;D	0.75020	0.967;0.985	D	0.99123	1.0850	10	0.87932	D	0	-11.0245	17.227	0.86973	0.0:1.0:0.0:0.0	.	266;266	Q92838;Q92838-3	EDA_HUMAN;.	I	266;266;134	ENSP00000363680:L266I;ENSP00000363681:L266I;ENSP00000423037:L134I	ENSP00000363680:L266I	L	+	1	0	EDA	69169975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.535000	0.67173	2.279000	0.76181	0.600000	0.82982	CTT		0.507	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
DGAT2L6	347516	broad.mit.edu	37	X	69424950	69424950	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:69424950T>C	ENST00000333026.3	+	7	1108	c.1008T>C	c.(1006-1008)atT>atC	p.I336I		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	336					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.I336I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGCTGACAATTACATAACAGG	0.483																																					p.I336I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1008C	X						.						75.0	58.0	64.0					X																	69424950		2203	4300	6503	69341675	SO:0001819	synonymous_variant	347516	exon7			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.1008T>C	X.37:g.69424950T>C		Somatic		Capture	Illumina HiSeq	Phase_I	69341675	NM_198512	Q6IEE2	Silent	SNP	ENST00000333026.3	37	CCDS14397.1																																																																																				0.483	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512	
SLC7A3	84889	broad.mit.edu	37	X	70146411	70146411	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70146411C>A	ENST00000374299.3	-	10	1730	c.1586G>T	c.(1585-1587)aGa>aTa	p.R529I	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R529I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	529					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.R529I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTGGCTGTCTCCAGATGAC	0.498																																					p.R529I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1586T	X						.						48.0	39.0	42.0					X																	70146411		2202	4297	6499	70063136	SO:0001583	missense	84889	exon10			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1586G>T	X.37:g.70146411C>A	ENSP00000363417:p.Arg529Ile	Somatic		Capture	Illumina HiSeq	Phase_I	70063136	NM_032803	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844985	0.71603	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90069	-2.61;-2.61	5.01	4.14	0.48551	.	0.039926	0.85682	D	0.000000	D	0.90215	0.6941	M	0.89968	3.075	0.80722	D	1	B	0.34372	0.451	B	0.34346	0.18	D	0.90173	0.4237	10	0.87932	D	0	.	11.3864	0.49787	0.0:0.9089:0.0:0.0911	.	529	Q8WY07	CTR3_HUMAN	I	529	ENSP00000363417:R529I;ENSP00000298085:R529I	ENSP00000298085:R529I	R	-	2	0	SLC7A3	70063136	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.301000	0.43628	1.218000	0.43458	0.529000	0.55759	AGA		0.498	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
MED12	9968	broad.mit.edu	37	X	70339253	70339253	+	Missense_Mutation	SNP	G	G	T	rs199469676|rs199469692|rs199469688|rs199469689|rs199469669|rs199469677|rs199469678|rs199469680|rs199469681|rs199469691|rs199469690|rs199469684|rs199469685|rs199469686|rs199469687		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70339253G>T	ENST00000374080.3	+	2	162	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	MED12_ENST00000333646.6_Missense_Mutation_p.G44C|MED12_ENST00000374102.1_Missense_Mutation_p.G44C			Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G44S(37)|p.G44R(34)|p.G44C(21)|p.?(6)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTAAAACAAGGTTTCAATAA	0.527			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.G44C			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	123	Substitution - Missense(92)|Deletion - In frame(21)|Unknown(6)|Complex - deletion inframe(4)	soft_tissue(121)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G130T	X						.						39.0	34.0	36.0					X																	70339253		1899	4108	6007	70255978	SO:0001583	missense	9968	exon2			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.130G>T	X.37:g.70339253G>T	ENSP00000363193:p.Gly44Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70255978	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.6|22.6	4.314077|4.314077	0.81358|0.81358	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072|ENST00000429213	D;D;D;D|.	0.87491|.	-2.26;-2.22;-2.23;-1.87|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73040|0.73040	0.3536|0.3536	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.73594|0.73594	-0.3933|-0.3933	10|5	0.87932|.	D|.	0|.	-13.5074|-13.5074	16.9324|16.9324	0.86193|0.86193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;44;44|.	F5H3Y1;Q93074-3;Q93074|.	.;.;MED12_HUMAN|.	C|N	44;44;44;44;12|28	ENSP00000333125:G44C;ENSP00000363215:G44C;ENSP00000363193:G44C;ENSP00000414203:G12C|.	ENSP00000333125:G44C|.	G|K	+|+	1|3	0|2	MED12|MED12	70255978|70255978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.325000|9.325000	0.96381|0.96381	2.385000|2.385000	0.81259|0.81259	0.513000|0.513000	0.50165|0.50165	GGT|AAG		0.527	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
MED12	9968	broad.mit.edu	37	X	70341594	70341594	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70341594G>A	ENST00000374080.3	+	7	1061	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	MED12_ENST00000333646.6_Silent_p.S343S|MED12_ENST00000374102.1_Silent_p.S343S			Q93074	MED12_HUMAN	mediator complex subunit 12	343					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S343S(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCACACCCTCGACTCCCTTTA	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.S343S			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	X						.						89.0	91.0	90.0					X																	70341594		2094	4201	6295	70258319	SO:0001819	synonymous_variant	9968	exon7			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1029G>A	X.37:g.70341594G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70258319	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1																																																																																				0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
NLGN3	54413	broad.mit.edu	37	X	70387254	70387254	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70387254T>G	ENST00000358741.3	+	7	1610	c.1307T>G	c.(1306-1308)tTt>tGt	p.F436C	NLGN3_ENST00000374051.3_Missense_Mutation_p.F416C|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.F396C	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	436					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.F416C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTCTCCAATTTTGTGGACAAT	0.527																																					p.F396C	Esophageal Squamous(103;760 1488 16849 22250 40351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1187G	X						.						139.0	104.0	116.0					X																	70387254		2203	4300	6503	70303979	SO:0001583	missense	54413	exon5			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1307T>G	X.37:g.70387254T>G	ENSP00000351591:p.Phe436Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70303979	NM_001166660	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.02|17.02	3.281357|3.281357	0.59758|0.59758	.|.	.|.	ENSG00000196338|ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741|ENST00000542063	T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Carboxylesterase, type B (1);|.	0.097389|.	0.64402|.	D|.	0.000001|.	T|T	0.75140|0.75140	0.3809|0.3809	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.81914|.	0.989;0.988;0.995|.	T|T	0.76865|0.76865	-0.2801|-0.2801	10|5	0.87932|.	D|.	0|.	.|.	14.1479|14.1479	0.65362|0.65362	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	396;436;416|.	D3DVV1;Q9NZ94;Q9NZ94-2|.	.;NLGN3_HUMAN;.|.	C|V	396;416;396;436|299	ENSP00000445298:F396C;ENSP00000363163:F416C;ENSP00000379196:F396C;ENSP00000351591:F436C|.	ENSP00000351591:F436C|.	F|L	+|+	2|1	0|2	NLGN3|NLGN3	70303979|70303979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.868000|7.868000	0.87116|0.87116	1.916000|1.916000	0.55485|0.55485	0.352000|0.352000	0.21897|0.21897	TTT|TTG		0.527	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
ZMYM3	9203	broad.mit.edu	37	X	70463819	70463819	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70463819G>A	ENST00000353904.2	-	21	3479	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098C|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1086C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1098					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1098C(1)|p.R1098fs*22(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTTGATACGCATGGGTTTG	0.478																																					p.R1086C												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|central_nervous_system(1)	c.C3256T	X						.						139.0	94.0	109.0					X																	70463819		2203	4300	6503	70380544	SO:0001583	missense	9203	exon21			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3292C>T	X.37:g.70463819G>A	ENSP00000343909:p.Arg1098Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70380544	NM_001171162	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	18.34	3.602914	0.66445	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.48522	1.4;0.81;1.4;1.36;1.4	5.04	4.14	0.48551	.	0.081933	0.49916	D	0.000124	T	0.59128	0.2171	L	0.46157	1.445	0.44807	D	0.997811	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.927	T	0.62704	-0.6798	10	0.87932	D	0	-9.5507	13.2187	0.59875	0.0:0.0:0.7368:0.2632	.	1086;1098	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1098;1086;1098;1093;1100	ENSP00000322845:R1098C;ENSP00000363110:R1086C;ENSP00000343909:R1098C;ENSP00000363096:R1093C;ENSP00000363100:R1100C	ENSP00000322845:R1098C	R	-	1	0	ZMYM3	70380544	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.336000	0.33850	2.339000	0.79563	0.529000	0.55759	CGT		0.478	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
TAF1	6872	broad.mit.edu	37	X	70598178	70598178	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70598178C>T	ENST00000373790.4	+	7	1075	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	TAF1_ENST00000449580.1_Missense_Mutation_p.R342C|TAF1_ENST00000423759.1_Missense_Mutation_p.R363C|TAF1_ENST00000276072.3_Missense_Mutation_p.R363C	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	342	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R342C(2)|p.R363C(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGCTGAGTGGCGTTATGGGCC	0.473																																					p.R342C												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C1024T	X						.						172.0	138.0	149.0					X																	70598178		2203	4298	6501	70514903	SO:0001583	missense	6872	exon7				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1024C>T	X.37:g.70598178C>T	ENSP00000362895:p.Arg342Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70514903	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.297600	0.81025	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84767	0.0765	10	0.87932	D	0	.	17.7539	0.88444	0.0:1.0:0.0:0.0	.	342;363	P21675;P21675-2	TAF1_HUMAN;.	C	342;342;363;363	ENSP00000362895:R342C;ENSP00000389000:R342C;ENSP00000406549:R363C;ENSP00000276072:R363C	ENSP00000276072:R363C	R	+	1	0	TAF1	70514903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.575000	0.53870	2.210000	0.71456	0.513000	0.50165	CGT		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
OGT	8473	broad.mit.edu	37	X	70793483	70793483	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:70793483C>T	ENST00000373719.3	+	22	3197	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	OGT_ENST00000373701.3_Missense_Mutation_p.R984C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	994	Required for phosphatidylinositol 3,4,5- triphosphate binding.				apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R994C(1)|p.R984C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAAGAAAGTTCGTGGCAAAGT	0.418																																					p.R984C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2950T	X						.						97.0	83.0	87.0					X																	70793483		2203	4300	6503	70710208	SO:0001583	missense	8473	exon22			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2980C>T	X.37:g.70793483C>T	ENSP00000362824:p.Arg994Cys	Somatic		Capture	Illumina HiSeq	Phase_I	70710208	NM_181673	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183122	0.57800	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.80033	-1.33;-1.33	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.94051	0.7318	10	0.87932	D	0	-15.8655	17.3903	0.87428	0.0:1.0:0.0:0.0	.	868;984;994	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	994;984	ENSP00000362824:R994C;ENSP00000362805:R984C	ENSP00000362805:R984C	R	+	1	0	OGT	70710208	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.683000	0.61679	2.376000	0.81061	0.600000	0.82982	CGT		0.418	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
RGAG4	340526	broad.mit.edu	37	X	71350532	71350532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:71350532C>A	ENST00000545866.1	-	1	1226	c.859G>T	c.(859-861)Gag>Tag	p.E287*	RGAG4_ENST00000609883.1_Nonsense_Mutation_p.E287*|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	287								p.E360*(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATAAGAGCTCTTTGCGGAAG	0.502																																					p.E287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T	X						.						110.0	105.0	107.0					X																	71350532		1888	4106	5994	71267257	SO:0001587	stop_gained	340526	exon1			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.859G>T	X.37:g.71350532C>A	ENSP00000441366:p.Glu287*	Somatic		Capture	Illumina HiSeq	Phase_I	71267257	NM_001024455	A7E2W7|Q8NCM4|Q9NPX1	Nonsense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	38	7.123503	0.98077	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.6685	10.3876	0.44150	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	.	E	-	1	0	RGAG4	71267257	0.986000	0.35501	1.000000	0.80357	0.771000	0.43674	2.923000	0.48868	2.209000	0.71365	0.600000	0.82982	GAG		0.502	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455	
NHSL2	340527	broad.mit.edu	37	X	71358769	71358769	+	Silent	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:71358769C>T	ENST00000373677.1	+	2	1535	c.273C>T	c.(271-273)taC>taT	p.Y91Y	NHSL2_ENST00000510661.1_Silent_p.Y226Y|NHSL2_ENST00000540800.1_Silent_p.Y457Y|NHSL2_ENST00000535692.1_Silent_p.Y91Y			Q5HYW2	NHSL2_HUMAN	NHS-like 2	91								p.Y457Y(1)|p.Y88Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGCTGGCTACCCTGAGCGCC	0.592																																					p.Y457Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1371T	X						.						36.0	30.0	32.0					X																	71358769		2203	4300	6503	71275494	SO:0001819	synonymous_variant	340527	exon6					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.273C>T	X.37:g.71358769C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71275494	NM_001013627	B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.592	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
PHKA1	5255	broad.mit.edu	37	X	71800894	71800894	+	Silent	SNP	G	G	A	rs372291401		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:71800894G>A	ENST00000373542.4	-	32	3789	c.3630C>T	c.(3628-3630)taC>taT	p.Y1210Y	PHKA1_ENST00000541944.1_Silent_p.Y1138Y|PHKA1_ENST00000339490.3_Silent_p.Y1197Y|PHKA1_ENST00000373539.3_Silent_p.Y1227Y|PHKA1_ENST00000373545.3_Silent_p.Y1168Y	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1210					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.Y1210Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACTCCTGCACGTAGGTGGCGG	0.572																																					p.Y1138Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3414T	X						.	G	,,	1,3834		0,1,1631,571	81.0	61.0	68.0		3591,3414,3630	0.0	0.9	X		68	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	PHKA1	NM_001122670.1,NM_001172436.1,NM_002637.3	,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,	1197/1211,1138/1152,1210/1224	71800894	1,10562	2203	4300	6503	71717619	SO:0001819	synonymous_variant	5255	exon30				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3630C>T	X.37:g.71800894G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71717619	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	CCDS14421.1																																																																																				0.572	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
NAP1L2	4674	broad.mit.edu	37	X	72433267	72433267	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:72433267G>T	ENST00000373517.3	-	1	1417	c.1062C>A	c.(1060-1062)atC>atA	p.I354I	NAP1L2_ENST00000536638.1_Silent_p.I212I	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	354					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.I354I(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTGTTCCCCAGATCCGATGTT	0.403																																					p.I354I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062A	X						.						75.0	65.0	68.0					X																	72433267		2203	4300	6503	72349992	SO:0001819	synonymous_variant	4674	exon1			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1062C>A	X.37:g.72433267G>T		Somatic		Capture	Illumina HiSeq	Phase_I	72349992	NM_021963	B2RE61|B4E161|Q8TAN6	Silent	SNP	ENST00000373517.3	37	CCDS14423.1																																																																																				0.403	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
KIAA2022	340533	broad.mit.edu	37	X	73961056	73961056	+	Silent	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:73961056G>T	ENST00000055682.6	-	3	3947	c.3336C>A	c.(3334-3336)atC>atA	p.I1112I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1112			I -> T (in dbSNP:rs12851763).		base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.I1112I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTCCCACTTGATTTTTTCCA	0.433																																					p.I1112I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3336A	X						.						77.0	72.0	74.0					X																	73961056		2203	4300	6503	73877781	SO:0001819	synonymous_variant	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3336C>A	X.37:g.73961056G>T		Somatic		Capture	Illumina HiSeq	Phase_I	73877781	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	CCDS35337.1																																																																																				0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
KIAA2022	340533	broad.mit.edu	37	X	73963606	73963606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:73963606C>A	ENST00000055682.6	-	3	1397	c.786G>T	c.(784-786)gaG>gaT	p.E262D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E262D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAATAAAAGTCTCGAAGTAAC	0.388																																					p.E262D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G786T	X						.						119.0	110.0	113.0					X																	73963606		2203	4300	6503	73880331	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.786G>T	X.37:g.73963606C>A	ENSP00000055682:p.Glu262Asp	Somatic		Capture	Illumina HiSeq	Phase_I	73880331	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108364	0.37242	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.52754	0.65;0.65	5.97	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.50333	1.59	0.49299	D	0.999778	D	0.89917	1.0	D	0.83275	0.996	T	0.55108	-0.8192	10	0.87932	D	0	-14.9731	7.7645	0.28972	0.0:0.4675:0.0:0.5325	.	262	Q5QGS0	K2022_HUMAN	D	262	ENSP00000362567:E262D;ENSP00000055682:E262D	ENSP00000055682:E262D	E	-	3	2	KIAA2022	73880331	0.997000	0.39634	1.000000	0.80357	0.802000	0.45316	0.477000	0.22196	0.273000	0.22049	-0.994000	0.02522	GAG		0.388	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ATRX	546	broad.mit.edu	37	X	76890145	76890145	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:76890145C>A	ENST00000373344.5	-	17	4963	c.4749G>T	c.(4747-4749)aaG>aaT	p.K1583N	ATRX_ENST00000395603.3_Missense_Mutation_p.K1545N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1583	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K1583N(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGGAGATTTCTTTGTTTTTT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.K1583N			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.G4749T	X						.						175.0	171.0	172.0					X																	76890145		2203	4296	6499	76776801	SO:0001583	missense	546	exon17			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4749G>T	X.37:g.76890145C>A	ENSP00000362441:p.Lys1583Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76776801	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936315	0.52972	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.20463	2.07;2.07	5.77	4.91	0.64330	DEAD-like helicase (2);SNF2-related (1);	0.256784	0.33753	N	0.004596	T	0.23370	0.0565	L	0.31120	0.905	0.80722	D	1	D;P	0.56521	0.976;0.716	P;B	0.51701	0.677;0.289	T	0.01541	-1.1329	10	0.62326	D	0.03	-8.3204	10.1218	0.42625	0.0:0.8441:0.0:0.1559	.	1545;1583	P46100-4;P46100	.;ATRX_HUMAN	N	1583;1545	ENSP00000362441:K1583N;ENSP00000378967:K1545N	ENSP00000362441:K1583N	K	-	3	2	ATRX	76776801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.031000	0.49728	1.186000	0.42985	0.600000	0.82982	AAG		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
ATRX	546	broad.mit.edu	37	X	76938995	76938995	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:76938995C>T	ENST00000373344.5	-	9	1967	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	ATRX_ENST00000395603.3_Missense_Mutation_p.E547K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	585					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E585K(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATATAATTCTTTTGTTACT	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.E585K			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.G1753A	X						.						170.0	199.0	189.0					X																	76938995		2203	4294	6497	76825651	SO:0001583	missense	546	exon9			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1753G>A	X.37:g.76938995C>T	ENSP00000362441:p.Glu585Lys	Somatic		Capture	Illumina HiSeq	Phase_I	76825651	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.046034	0.36085	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92099	-2.96;-2.97	5.22	5.22	0.72569	.	0.124522	0.53938	D	0.000042	D	0.93442	0.7908	L	0.41079	1.255	0.80722	D	1	P;D	0.69078	0.607;0.997	B;D	0.73380	0.187;0.98	D	0.91865	0.5502	10	0.24483	T	0.36	-13.5631	16.1397	0.81513	0.0:1.0:0.0:0.0	.	547;585	P46100-4;P46100	.;ATRX_HUMAN	K	585;547	ENSP00000362441:E585K;ENSP00000378967:E547K	ENSP00000362441:E585K	E	-	1	0	ATRX	76825651	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.823000	0.55715	2.177000	0.69029	0.509000	0.49947	GAA		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
ATRX	546	broad.mit.edu	37	X	76939208	76939208	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:76939208C>A	ENST00000373344.5	-	9	1754	c.1540G>T	c.(1540-1542)Gac>Tac	p.D514Y	ATRX_ENST00000395603.3_Missense_Mutation_p.D476Y|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	514					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D514Y(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATATCCATGTCTAAATCTTCA	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.D514Y			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.G1540T	X						.						216.0	216.0	216.0					X																	76939208		2203	4296	6499	76825864	SO:0001583	missense	546	exon9			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1540G>T	X.37:g.76939208C>A	ENSP00000362441:p.Asp514Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	76825864	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.820907	0.32237	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.97994	-4.57;-4.65	5.02	5.02	0.67125	.	0.000000	0.85682	U	0.000000	D	0.98504	0.9501	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	D	0.99880	1.1111	10	0.87932	D	0	-9.7872	17.6011	0.88025	0.0:1.0:0.0:0.0	.	514;475;476;514	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Y	514;476;470	ENSP00000362441:D514Y;ENSP00000378967:D476Y	ENSP00000362441:D514Y	D	-	1	0	ATRX	76825864	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.455000	0.73497	2.085000	0.62840	0.496000	0.49642	GAC		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
ATRX	546	broad.mit.edu	37	X	76939586	76939586	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:76939586T>G	ENST00000373344.5	-	9	1376	c.1162A>C	c.(1162-1164)Aaa>Caa	p.K388Q	ATRX_ENST00000395603.3_Missense_Mutation_p.K350Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	388					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K388Q(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGACGTAATTTTGTAGCAGAA	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.K388Q			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.A1162C	X						.						188.0	195.0	193.0					X																	76939586		2203	4296	6499	76826242	SO:0001583	missense	546	exon9			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1162A>C	X.37:g.76939586T>G	ENSP00000362441:p.Lys388Gln	Somatic		Capture	Illumina HiSeq	Phase_I	76826242	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	t	10.30	1.313091	0.23908	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92699	-3.09;-3.08	4.74	4.74	0.60224	.	0.123578	0.53938	D	0.000051	D	0.92593	0.7647	L	0.41027	1.25	0.80722	D	1	D;P;D;D	0.89917	0.999;0.947;1.0;0.999	D;P;D;D	0.83275	0.991;0.701;0.996;0.991	D	0.89894	0.4039	10	0.21540	T	0.41	-10.3521	10.0953	0.42471	0.0:0.0:0.2349:0.7651	.	388;349;350;388	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	388;350;344	ENSP00000362441:K388Q;ENSP00000378967:K350Q	ENSP00000362441:K388Q	K	-	1	0	ATRX	76826242	1.000000	0.71417	0.896000	0.35187	0.927000	0.56198	5.091000	0.64505	1.562000	0.49601	0.409000	0.27619	AAA		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
MAGT1	84061	broad.mit.edu	37	X	77130933	77130933	+	Silent	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:77130933G>A	ENST00000373336.3	-	2	293	c.264C>T	c.(262-264)gtC>gtT	p.V88V	MAGT1_ENST00000358075.6_Silent_p.V120V			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	88	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.V88V(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTGCAAACGACACACTGTC	0.428																																					p.V120V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360T	X						.						213.0	200.0	204.0					X																	77130933		2203	4296	6499	77017589	SO:0001819	synonymous_variant	84061	exon2				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.264C>T	X.37:g.77130933G>A		Somatic		Capture	Illumina HiSeq	Phase_I	77017589	NM_032121	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000373336.3	37																																																																																					0.428	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121	
P2RY10	27334	broad.mit.edu	37	X	78216897	78216897	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:78216897G>A	ENST00000171757.2	+	4	1160	c.880G>A	c.(880-882)Gca>Aca	p.A294T	P2RY10_ENST00000544091.1_Missense_Mutation_p.A294T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A294T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCTGTGCCTTGCAAGTCTCTG	0.448																																					p.A294T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	X						.						227.0	210.0	216.0					X																	78216897		2203	4300	6503	78103553	SO:0001583	missense	27334	exon2			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.880G>A	X.37:g.78216897G>A	ENSP00000171757:p.Ala294Thr	Somatic		Capture	Illumina HiSeq	Phase_I	78103553	NM_198333	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523312	0.85600	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.39229	1.09;1.09	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63756	-0.6565	10	0.48119	T	0.1	.	15.8594	0.79009	0.0:0.0:1.0:0.0	.	294	O00398	P2Y10_HUMAN	T	294	ENSP00000443138:A294T;ENSP00000171757:A294T	ENSP00000171757:A294T	A	+	1	0	P2RY10	78103553	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.569000	0.82380	2.311000	0.77944	0.597000	0.82753	GCA		0.448	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
TBX22	50945	broad.mit.edu	37	X	79282760	79282760	+	Silent	SNP	G	G	A	rs150811689	byFrequency	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:79282760G>A	ENST00000373294.5	+	6	832	c.804G>A	c.(802-804)acG>acA	p.T268T	TBX22_ENST00000373291.1_Silent_p.T148T|TBX22_ENST00000373296.3_Silent_p.T268T|TBX22_ENST00000442340.1_Silent_p.T148T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	268					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T268T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATAGATTACGAAACTAAAAA	0.348													G|||	8	0.00211921	0.0053	0.0	3775	,	,		12521	0.0		0.001	False		,,,				2504	0.0				p.T268T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G804A	X						.	G	,,	24,3809		0,21,3,1610,568	36.0	35.0	36.0		804,444,804	-1.7	1.0	X	dbSNP_134	36	2,6724		0,1,1,2427,1869	no	coding-synonymous,coding-synonymous,coding-synonymous	TBX22	NM_001109878.1,NM_001109879.1,NM_016954.2	,,	0,22,4,4037,2437	AA,AG,A,GG,G		0.0297,0.6261,0.2462	,,	268/521,148/401,268/521	79282760	26,10533	2202	4298	6500	79169416	SO:0001819	synonymous_variant	50945	exon7			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.804G>A	X.37:g.79282760G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79169416	NM_001109878	Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	CCDS14445.1																																																																																				0.348	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
DACH2	117154	broad.mit.edu	37	X	86069719	86069719	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:86069719G>T	ENST00000373125.4	+	10	1566	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	DACH2_ENST00000373131.1_Missense_Mutation_p.E509D|DACH2_ENST00000510272.1_Missense_Mutation_p.E303D|DACH2_ENST00000508860.1_Missense_Mutation_p.E355D	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	522	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E509D(1)|p.E522D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGAAGAAGGAGAAAAAAACCA	0.428																																					p.E522D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1566T	X						.						59.0	55.0	56.0					X																	86069719		2203	4300	6503	85956375	SO:0001583	missense	117154	exon10			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1566G>T	X.37:g.86069719G>T	ENSP00000362217:p.Glu522Asp	Somatic		Capture	Illumina HiSeq	Phase_I	85956375	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691919	0.68271	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.90563	-2.64;-2.69	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000004	D	0.93592	0.7954	M	0.71871	2.18	0.53005	D	0.999969	D;D;P;P	0.65815	0.995;0.985;0.911;0.948	D;P;P;B	0.63381	0.914;0.859;0.513;0.389	D	0.93469	0.6817	10	0.49607	T	0.09	.	12.5545	0.56246	0.0863:0.0:0.9137:0.0	.	388;522;509;522	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	D	522;509;522;355;303;355;187	ENSP00000362223:E509D;ENSP00000362217:E522D	ENSP00000345134:E522D	E	+	3	2	DACH2	85956375	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	3.001000	0.49488	1.932000	0.55993	0.415000	0.27848	GAG		0.428	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
PCDH11X	27328	broad.mit.edu	37	X	91133214	91133214	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:91133214G>A	ENST00000373094.1	+	2	2820	c.1975G>A	c.(1975-1977)Gta>Ata	p.V659I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.V659I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V659I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V659I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V659I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V659I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V659I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V659I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V659I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V659I(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTGCCAAAGTAACCATAAA	0.388																																					p.V659I	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1975A	X						.						74.0	67.0	69.0					X																	91133214		2203	4297	6500	91019870	SO:0001583	missense	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1975G>A	X.37:g.91133214G>A	ENSP00000362186:p.Val659Ile	Somatic		Capture	Illumina HiSeq	Phase_I	91019870	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189127	0.38707	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.35	4.48	0.54585	Cadherin (5);Cadherin-like (1);	0.060566	0.64402	N	0.000004	T	0.50939	0.1645	L	0.43757	1.38	0.44570	D	0.997531	B;B;B;B;B;P;B;B	0.34934	0.145;0.258;0.421;0.421;0.421;0.476;0.084;0.084	B;B;B;B;B;B;B;B	0.37508	0.071;0.163;0.163;0.163;0.163;0.252;0.071;0.071	T	0.48479	-0.9032	10	0.41790	T	0.15	.	12.0948	0.53748	0.0849:0.0:0.9151:0.0	.	659;659;659;659;659;659;659;659	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	659	ENSP00000378746:V659I;ENSP00000362186:V659I;ENSP00000362189:V659I;ENSP00000355040:V659I;ENSP00000362180:V659I;ENSP00000423762:V659I;ENSP00000355105:V659I;ENSP00000384758:V659I;ENSP00000298274:V659I	ENSP00000298274:V659I	V	+	1	0	PCDH11X	91019870	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.683000	0.84093	1.020000	0.39573	0.415000	0.27848	GTA		0.388	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91456440	91456440	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:91456440C>A	ENST00000373094.1	+	3	3945	c.3100C>A	c.(3100-3102)Cat>Aat	p.H1034N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1034N|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1034N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.H1034N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1034N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1034					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1034N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATCTGGATTCATCCCCAACC	0.393																																					p.H1034N	NSCLC(38;925 1092 2571 38200 45895)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3100A	X						.						77.0	68.0	71.0					X																	91456440		2203	4300	6503	91343096	SO:0001583	missense	27328	exon3			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3100C>A	X.37:g.91456440C>A	ENSP00000362186:p.His1034Asn	Somatic		Capture	Illumina HiSeq	Phase_I	91343096	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.713985	0.15306	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934	T;T;T;T;T	0.50548	0.75;0.77;0.74;0.75;0.77	3.68	3.68	0.42216	.	0.493623	0.15443	U	0.262107	T	0.35158	0.0922	L	0.29908	0.895	0.80722	D	1	P;P;P;P;B	0.46912	0.531;0.886;0.886;0.512;0.378	B;B;B;B;B	0.40506	0.204;0.331;0.331;0.137;0.065	T	0.26677	-1.0096	10	0.62326	D	0.03	.	10.0754	0.42358	0.0:1.0:0.0:0.0	.	1034;1034;1034;1034;1034	Q9BZA7-6;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1034	ENSP00000362186:H1034N;ENSP00000362189:H1034N;ENSP00000423762:H1034N;ENSP00000355105:H1034N;ENSP00000384758:H1034N	ENSP00000349408:H1034N	H	+	1	0	PCDH11X	91343096	1.000000	0.71417	0.998000	0.56505	0.403000	0.30841	3.058000	0.49939	1.830000	0.53286	0.513000	0.50165	CAT		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91873864	91873864	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:91873864G>T	ENST00000373094.1	+	7	4814	c.3969G>T	c.(3967-3969)ttG>ttT	p.L1323F	PCDH11X_ENST00000406881.1_Missense_Mutation_p.L1315F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L1286F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L1286F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L1313F|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L1305F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1323					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1323F(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCATTCCTTTGACAACCTTCA	0.428																																					p.L1323F	NSCLC(38;925 1092 2571 38200 45895)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3969T	X						.						158.0	146.0	150.0					X																	91873864		2203	4300	6503	91760520	SO:0001583	missense	27328	exon7			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3969G>T	X.37:g.91873864G>T	ENSP00000362186:p.Leu1323Phe	Somatic		Capture	Illumina HiSeq	Phase_I	91760520	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720381	0.30503	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.62498	0.09;0.1;0.02;0.05;0.07;0.02	4.57	3.68	0.42216	.	.	.	.	.	T	0.59555	0.2202	N	0.24115	0.695	0.20873	N	0.999833	P;P;P;P;P	0.41131	0.739;0.739;0.739;0.739;0.622	P;P;P;P;B	0.50082	0.63;0.63;0.63;0.63;0.426	T	0.53767	-0.8392	9	0.72032	D	0.01	.	12.0758	0.53643	0.0:0.0:0.8267:0.1733	.	1286;1305;1315;1313;1323	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	F	1323;1313;1286;1305;1315;1323;1286	ENSP00000362186:L1323F;ENSP00000362189:L1313F;ENSP00000362180:L1286F;ENSP00000355105:L1305F;ENSP00000384758:L1315F;ENSP00000298274:L1286F	ENSP00000298274:L1286F	L	+	3	2	PCDH11X	91760520	1.000000	0.71417	0.013000	0.15412	0.393000	0.30537	2.204000	0.42761	0.676000	0.31285	0.459000	0.35465	TTG		0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
FAM133A	286499	broad.mit.edu	37	X	92964800	92964800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:92964800G>T	ENST00000355813.5	+	4	908	c.382G>T	c.(382-384)Gga>Tga	p.G128*	FAM133A_ENST00000538690.1_Nonsense_Mutation_p.G128*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.G128*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.G128*	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	128	Lys-rich.|Ser-rich.							p.G128*(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGAAACAAGGAAAAAGGAG	0.368																																					p.G128X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G382T	X						.						20.0	18.0	18.0					X																	92964800		2195	4286	6481	92851456	SO:0001587	stop_gained	286499	exon5			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.382G>T	X.37:g.92964800G>T	ENSP00000348067:p.Gly128*	Somatic		Capture	Illumina HiSeq	Phase_I	92851456	NM_001171110		Nonsense_Mutation	SNP	ENST00000355813.5	37	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	37	6.467709	0.97590	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	.	.	.	3.0	1.2	0.21068	.	0.475657	0.23426	N	0.048302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-2.7748	4.6329	0.12511	0.3228:0.0:0.6772:0.0	.	.	.	.	X	128	.	ENSP00000318974:G128X	G	+	1	0	FAM133A	92851456	0.993000	0.37304	0.650000	0.29550	0.860000	0.49131	1.831000	0.39141	0.190000	0.20209	-0.195000	0.12781	GGA		0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698	
RPA4	29935	broad.mit.edu	37	X	96139902	96139902	+	Missense_Mutation	SNP	G	G	A	rs199631132		TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:96139902G>A	ENST00000373040.3	+	1	996	c.593G>A	c.(592-594)cGc>cAc	p.R198H	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	198					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.R198H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GAGAGTCACCGCAATTTCATC	0.512								Other identified genes with known or suspected DNA repair function																													p.R198H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	X						.						161.0	120.0	134.0					X																	96139902		2203	4300	6503	96026558	SO:0001583	missense	29935	exon1			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.593G>A	X.37:g.96139902G>A	ENSP00000362131:p.Arg198His	Somatic		Capture	Illumina HiSeq	Phase_I	96026558	NM_013347	Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056884	0.08339	.	.	ENSG00000204086	ENST00000373040	T	0.44083	0.93	3.33	-2.21	0.06973	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	B	0.42593	0.392	T	0.14504	-1.0470	9	0.72032	D	0.01	-8.2168	4.0861	0.09948	0.0:0.2452:0.3895:0.3653	.	198	Q13156	RFA4_HUMAN	H	198	ENSP00000362131:R198H	ENSP00000362131:R198H	R	+	2	0	RPA4	96026558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.019000	0.12546	-0.627000	0.05589	-0.490000	0.04691	CGC		0.512	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347	
DIAPH2	1730	broad.mit.edu	37	X	96502787	96502787	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:96502787G>T	ENST00000324765.8	+	23	3140	c.2793G>T	c.(2791-2793)aaG>aaT	p.K931N	DIAPH2_ENST00000373061.3_Missense_Mutation_p.K931N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K927N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K931N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K931N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	931	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.K931N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTGACATCAAGAAATTCCCCC	0.353																																					p.K931N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2793T	X						.						149.0	127.0	134.0					X																	96502787		2203	4300	6503	96389443	SO:0001583	missense	1730	exon23			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2793G>T	X.37:g.96502787G>T	ENSP00000321348:p.Lys931Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96389443	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458762	0.43634	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.66	4.79	0.61399	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.123700	0.52532	D	0.000066	T	0.21631	0.0521	L	0.48362	1.52	0.46849	D	0.99922	P;P	0.36354	0.549;0.493	B;B	0.37780	0.258;0.167	T	0.02167	-1.1202	10	0.30854	T	0.27	.	14.5867	0.68331	0.0757:0.0:0.9243:0.0	.	931;931	O60879;O60879-2	DIAP2_HUMAN;.	N	931;927;931;931;931;938	ENSP00000362152:K931N;ENSP00000362145:K927N;ENSP00000348082:K931N;ENSP00000362140:K931N;ENSP00000321348:K931N	ENSP00000321348:K931N	K	+	3	2	DIAPH2	96389443	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	4.092000	0.57707	2.523000	0.85059	0.594000	0.82650	AAG		0.353	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
TNMD	64102	broad.mit.edu	37	X	99849322	99849322	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:99849322T>G	ENST00000373031.4	+	4	603	c.386T>G	c.(385-387)aTt>aGt	p.I129S	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	129	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.I129S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ATTAAAGTGATTCCTGAATTT	0.353																																					p.I129S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T386G	X						.						89.0	79.0	82.0					X																	99849322		2203	4300	6503	99735978	SO:0001583	missense	64102	exon4			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.386T>G	X.37:g.99849322T>G	ENSP00000362122:p.Ile129Ser	Somatic		Capture	Illumina HiSeq	Phase_I	99735978	NM_022144	Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354195	0.82243	.	.	ENSG00000000005	ENST00000373031	T	0.81163	-1.46	5.87	5.87	0.94306	BRICHOS (2);	0.061338	0.64402	D	0.000003	D	0.87204	0.6119	M	0.63843	1.955	0.51767	D	0.99993	D	0.71674	0.998	D	0.63113	0.911	D	0.88504	0.3084	10	0.87932	D	0	-25.8763	15.1894	0.73032	0.0:0.0:0.0:1.0	.	129	Q9H2S6	TNMD_HUMAN	S	129	ENSP00000362122:I129S	ENSP00000362122:I129S	I	+	2	0	TNMD	99735978	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.047000	0.64232	1.970000	0.57323	0.481000	0.45027	ATT		0.353	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144	
F8	2157	broad.mit.edu	37	X	154213062	154213062	+	Silent	SNP	T	T	C			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrX:154213062T>C	ENST00000360256.4	-	6	887	c.687A>G	c.(685-687)tcA>tcG	p.S229S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	229	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S229S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTTGTTTCTGAGTGCCAAC	0.498																																					p.S229S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A687G	X						.						150.0	118.0	129.0					X																	154213062		2203	4300	6503	153866256	SO:0001819	synonymous_variant	2157	exon6			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.687A>G	X.37:g.154213062T>C		Somatic		Capture	Illumina HiSeq	Phase_I	153866256	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.498	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
PCDH11Y	83259	broad.mit.edu	37	Y	4966401	4966401	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrY:4966401G>A	ENST00000333703.4	+	5	1262	c.749G>A	c.(748-750)aGa>aAa	p.R250K	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R261K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R261K	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	261	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R250K(2)|p.R261K(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTCCTCAAAGATCCAGTACT	0.393																																					p.R250K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G749A	Y						.																																			5026401	SO:0001583	missense	83259	exon5			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.749G>A	Y.37:g.4966401G>A	ENSP00000330552:p.Arg250Lys	Somatic		Capture	Illumina HiSeq	Phase_I	5026401	NM_032971	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.393	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
PCDH11Y	83259	broad.mit.edu	37	Y	4966985	4966985	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrY:4966985C>A	ENST00000333703.4	+	5	1846	c.1333C>A	c.(1333-1335)Ctt>Att	p.L445I	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.L456I|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.L456I	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	456	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L445I(2)|p.L456I(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGCAGCATATCTTGACTATGA	0.418																																					p.L445I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1333A	Y						.																																			5026985	SO:0001583	missense	83259	exon5			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1333C>A	Y.37:g.4966985C>A	ENSP00000330552:p.Leu445Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5026985	NM_032971	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.418	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
UTY	7404	broad.mit.edu	37	Y	15417990	15417990	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina			Illumina GAIIx	TCGA-AA-3977-01A-01W-0995-10	TCGA-AA-3977-10A-01W-0999-10	g.chrY:15417990G>T	ENST00000331397.4	-	21	4060	c.3053C>A	c.(3052-3054)tCt>tAt	p.S1018Y	UTY_ENST00000382896.4_Missense_Mutation_p.S1063Y|UTY_ENST00000537580.1_Missense_Mutation_p.S939Y|AC010877.1_ENST00000595988.1_5'Flank|UTY_ENST00000362096.4_Missense_Mutation_p.S1018Y	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1018					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)	p.S1018Y(2)		kidney(1)|lung(6)	7						TCTCCTTCCAGAACTTAAAAA	0.358																																					p.S1018Y	Colon(103;1740 2135 40732 45171)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3053A	Y						.						144.0	156.0	153.0					Y																	15417990		600	1949	2549	13927384	SO:0001583	missense	7404	exon21			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.3053C>A	Y.37:g.15417990G>T	ENSP00000328939:p.Ser1018Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	13927384	NM_007125	A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	CCDS14783.1																																																																																				0.358	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	
